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 isArtifactMode oxoGCut pox pox_cutoff qox t_alt_count t_ref_count validation_alt_allele validation_tumor_sample MIB2 142678 broad.mit.edu 37 1 1551937 1551937 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:1551937C>T uc001agg.2 + 2 180 c.53C>T c.(52-54)TCA>TTA p.S18L MIB2_uc001agh.2_Missense_Mutation_p.S18L|MIB2_uc001agi.2_Missense_Mutation_p.S18L|MIB2_uc001agj.2_5'UTR|MIB2_uc001agk.2_Missense_Mutation_p.S18L|MIB2_uc001agl.1_5'UTR|MIB2_uc001agm.2_5'UTR|MIB2_uc010nyq.1_5'UTR NM_080875 NP_543151 Q96AX9 MIB2_HUMAN mindbomb homolog 2 18 Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade endosome actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc 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;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)|Lung SC(97;0.217) Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) TTCCAGGCATCAGGGCTGCAG 0.652 NaN 0 0 0 1 0 13 27 KIAA1751 85452 broad.mit.edu 37 1 1903481 1903481 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:1903481C>T uc001aim.1 - 9 982 c.826G>A c.(826-828)GAG>AAG p.E276K KIAA1751_uc009vkz.1_Missense_Mutation_p.E276K NM_001080484 NP_001073953 Q9C0B2 K1751_HUMAN hypothetical protein LOC85452 276 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) CTCATGTACTCGTGGCACTCC 0.502 NaN 0 0 0 1 0 46 106 PRDM16 63976 broad.mit.edu 37 1 3348546 3348546 + Nonsense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:3348546G>T uc001akf.2 + 16 3618 c.3538G>T c.(3538-3540)GAA>TAA p.E1180* PRDM16_uc001akc.2_Nonsense_Mutation_p.E1179*|PRDM16_uc001akd.2_Nonsense_Mutation_p.E1179*|PRDM16_uc001ake.2_Nonsense_Mutation_p.E1180*|PRDM16_uc009vlh.2_Nonsense_Mutation_p.E880* NM_022114 NP_071397 Q9HAZ2 PRD16_HUMAN PR domain containing 16 isoform 1 1180 Mediates interaction with SKI and regulation of TGF-beta signaling. brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 7 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) TGAGGACCACGAAGGCGGTCT 0.592 NaN T EVI1 MDS|AML 1 0 4.96729e-08 1 5.15295e-08 16 69 CCDC27 148870 broad.mit.edu 37 1 3679963 3679963 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:3679963G>C uc001akv.2 + 7 1327 c.1246G>C c.(1246-1248)GAG>CAG p.E416Q NM_152492 NP_689705 Q2M243 CCD27_HUMAN coiled-coil domain containing 27 416 Glu-rich. skin(1) 1 all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218) all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127) Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203) GGCCCAGCTGGAGGAGTACGA 0.522 NaN 0 0 0 1 0 30 71 DNAJC11 55735 broad.mit.edu 37 1 6727843 6727843 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:6727843C>T uc001aof.2 - 4 410 c.304G>A c.(304-306)GAA>AAA p.E102K DNAJC11_uc010nzt.1_Missense_Mutation_p.E64K|DNAJC11_uc001aog.2_Missense_Mutation_p.E102K|DNAJC11_uc010nzu.1_Missense_Mutation_p.E12K NM_018198 NP_060668 Q9NVH1 DJC11_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 11 102 protein folding heat shock protein binding|unfolded protein binding ovary(1)|skin(1) 2 Ovarian(185;0.0265)|all_lung(157;0.154) all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649) TCTCGAATTTCAGCAGGGGTT 0.522 NaN 0 0 0 1 0 17 45 SLC45A1 50651 broad.mit.edu 37 1 8399747 8399747 + Nonsense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:8399747C>T uc001apb.2 + 7 1969 c.1969C>T c.(1969-1971)CAG>TAG p.Q657* SLC45A1_uc001apc.2_Nonsense_Mutation_p.Q355* NM_001080397 NP_001073866 Q9Y2W3 S45A1_HUMAN DNB5 657 carbohydrate transport integral to membrane symporter activity central_nervous_system(2)|pancreas(1)|skin(1) 4 Ovarian(185;0.0661)|all_lung(157;0.127) all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649) CGATTACTATCAGAGTAAGAA 0.463 NaN 0 0 0 1 0 44 148 PGD 5226 broad.mit.edu 37 1 10479590 10479590 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:10479590C>T uc001arc.2 + 12 1416 c.1326C>T c.(1324-1326)CTC>CTT p.L442L PGD_uc001ard.2_Silent_p.L362L|PGD_uc010oak.1_Silent_p.L420L|PGD_uc010oal.1_Silent_p.L429L NM_002631 NP_002622 P52209 6PGD_HUMAN phosphogluconate dehydrogenase 442 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) CAGCCAGCCTCATCCAGGTAA 0.592 NaN 0 0 0 1 0 36 141 C1orf187 374946 broad.mit.edu 37 1 11772015 11772015 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:11772015G>C uc001asr.1 + 4 890 c.750G>C c.(748-750)AAG>AAC p.K250N NM_198545 NP_940947 Q8NBI3 DRAXI_HUMAN chromosome 1 open reading frame 187 precursor 250 axon guidance|commissural neuron differentiation in spinal cord|dorsal spinal cord development|forebrain development|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway extracellular region 0 Ovarian(185;0.249) Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.48e-06)|COAD - Colon adenocarcinoma(227;0.000283)|BRCA - Breast invasive adenocarcinoma(304;0.000316)|Kidney(185;0.000841)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|STAD - Stomach adenocarcinoma(313;0.00754)|READ - Rectum adenocarcinoma(331;0.0651) CCTCTGCAAAGAAGAAAGGTA 0.582 NaN 0 0 0 1 0 7 16 VPS13D 55187 broad.mit.edu 37 1 12343399 12343399 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:12343399G>A uc001atv.2 + 21 5381 c.5240G>A c.(5239-5241)CGG>CAG p.R1747Q VPS13D_uc001atw.2_Missense_Mutation_p.R1747Q|VPS13D_uc001atx.2_Missense_Mutation_p.R935Q NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13D isoform 1 1747 protein localization ovary(4)|pancreas(1) 5 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) TCTGCGTCCCGGAAAAAGCAA 0.478 NaN 0 0 0 1 0 14 44 VPS13D 55187 broad.mit.edu 37 1 12516150 12516150 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:12516150G>A uc001atv.2 + 66 12571 c.12430G>A c.(12430-12432)GAA>AAA p.E4144K VPS13D_uc001atw.2_Missense_Mutation_p.E4119K|VPS13D_uc001atx.2_Missense_Mutation_p.E3331K|VPS13D_uc009vnl.2_Intron|VPS13D_uc010obd.1_Missense_Mutation_p.E142K NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13D isoform 1 4143 protein localization ovary(4)|pancreas(1) 5 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) CACAAGTGGTGAACACCTTGT 0.527 NaN 0 0 0 1 0 18 77 PRDM2 7799 broad.mit.edu 37 1 14107448 14107448 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:14107448C>T uc001avi.2 + 8 4014 c.3158C>T c.(3157-3159)TCT>TTT p.S1053F PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.S1053F|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Missense_Mutation_p.S852F|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron NM_012231 NP_036363 Q13029 PRDM2_HUMAN retinoblastoma protein-binding zinc finger 1053 Poly-Ser. Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) ACACTttcttcttcctcctct 0.388 NaN 0 0 0 1 0 21 68 PRDM2 7799 broad.mit.edu 37 1 14107484 14107484 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:14107484C>G uc001avi.2 + 8 4050 c.3194C>G c.(3193-3195)TCT>TGT p.S1065C PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.S1065C|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Missense_Mutation_p.S864C|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron NM_012231 NP_036363 Q13029 PRDM2_HUMAN retinoblastoma protein-binding zinc finger 1065 Poly-Ser. Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) tcttcgttttcttcttcatct 0.368 NaN 0 0 0 1 0 21 48 CASP9 842 broad.mit.edu 37 1 15844829 15844829 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:15844829C>T uc001awn.2 - 2 289 c.194G>A c.(193-195)CGA>CAA p.R65Q CASP9_uc001awm.1_Missense_Mutation_p.R65Q|CASP9_uc001awo.2_Missense_Mutation_p.R65Q|CASP9_uc001awp.2_5'UTR|CASP9_uc009voi.2_5'UTR|CASP9_uc010obm.1_5'UTR|CASP9_uc001awq.2_5'UTR NM_001229 NP_001220 P55211 CASP9_HUMAN caspase 9 isoform alpha preproprotein 65 CARD. activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling cytosol cysteine-type endopeptidase activity|enzyme activator activity|protein binding central_nervous_system(1)|kidney(1) 2 Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655) CTGACTCCCTCGAGTCTCCAG 0.527 NaN 0 0 0 1 0 25 80 TMEM82 388595 broad.mit.edu 37 1 16073402 16073402 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:16073402G>A uc001axc.2 + 5 936 c.798G>A c.(796-798)CAG>CAA p.Q266Q NM_001013641 NP_001013663 A0PJX8 TMM82_HUMAN transmembrane protein 82 266 Leu-rich.|Helical; (Potential). integral to membrane breast(1)|central_nervous_system(1) 2 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GCCAGGTGCAGACGGTGCTGG 0.682 NaN 0 0 0 1 0 6 24 CLCNKB 1188 broad.mit.edu 37 1 16382217 16382217 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:16382217G>A uc001axw.3 + 18 1973 c.1893G>A c.(1891-1893)GTG>GTA p.V631V FAM131C_uc010obz.1_Intron|CLCNKB_uc001axx.3_Silent_p.V631V|CLCNKB_uc001axy.3_Silent_p.V461V NM_000085 NP_000076 P51801 CLCKB_HUMAN chloride channel Kb isoform 1 631 CBS 2. excretion chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity skin(1) 1 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) CAGAACCAGTGACCCTGAAGC 0.617 NaN 0 0 0 1 0 19 100 ARHGEF19 128272 broad.mit.edu 37 1 16534235 16534235 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:16534235C>T uc001ayc.1 - 4 869 c.732G>A c.(730-732)ATG>ATA p.M244I ARHGEF19_uc009voo.1_5'Flank|ARHGEF19_uc001ayb.1_5'Flank NM_153213 NP_694945 Q8IW93 ARHGJ_HUMAN Rho guanine nucleotide exchange factor (GEF) 19 244 regulation of actin cytoskeleton organization intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity skin(2)|ovary(1) 3 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649) GGTCCCCGCTCATCTCTACAC 0.672 NaN 0 0 0 1 0 21 77 ATP13A2 23400 broad.mit.edu 37 1 17328531 17328531 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:17328531C>T uc001baa.2 - 8 893 c.703G>A c.(703-705)GAG>AAG p.E235K ATP13A2_uc001bab.2_Missense_Mutation_p.E230K|ATP13A2_uc001bac.2_Missense_Mutation_p.E230K|ATP13A2_uc009vpa.1_5'Flank|ATP13A2_uc001bad.1_5'Flank NM_022089 NP_071372 Q9NQ11 AT132_HUMAN ATPase type 13A2 isoform 1 235 Helical; (Potential). ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding skin(2)|ovary(1)|central_nervous_system(1) 4 Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) AGCCCTACCTCGTCCACCAGC 0.383 NaN 0 0 0 1 0 11 24 IGSF21 84966 broad.mit.edu 37 1 18661423 18661423 + Nonsense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:18661423G>T uc001bau.1 + 4 726 c.343G>T c.(343-345)GAG>TAG p.E115* NM_032880 NP_116269 Q96ID5 IGS21_HUMAN immunoglobin superfamily, member 21 precursor 115 Ig-like 1. extracellular region ovary(2)|large_intestine(1)|skin(1) 4 Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157) TGGTCCCTATGAGTGCCATGT 0.622 NaN 1 0 1.40151e-16 1 1.48112e-16 22 52 NBPF3 84224 broad.mit.edu 37 1 21795329 21795329 + Silent SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:21795329C>G uc001ber.2 + 3 632 c.282C>G c.(280-282)CTC>CTG p.L94L NBPF3_uc001bes.2_Silent_p.L38L|NBPF3_uc009vqb.2_Silent_p.L94L|NBPF3_uc010odm.1_Intron NM_032264 NP_115640 Q9H094 NBPF3_HUMAN neuroblastoma breakpoint family, member 3 94 cytoplasm upper_aerodigestive_tract(1)|ovary(1) 2 all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) TCAGAAACCTCAAACAGAAAT 0.473 NaN OREG0013205 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 1 0 36 128 HSPG2 3339 broad.mit.edu 37 1 22203044 22203044 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:22203044G>A uc001bfj.2 - 22 2827 c.2787C>T c.(2785-2787)GTC>GTT p.V929V HSPG2_uc009vqd.2_Silent_p.V930V NM_005529 NP_005520 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 precursor 929 Laminin EGF-like 5; first part. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1) 9 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) AGTGGCGACTGACACCCATGC 0.622 NaN 0 0 0 1 0 19 52 ZBTB40 9923 broad.mit.edu 37 1 22832611 22832611 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:22832611G>A uc001bft.2 + 7 1748 c.1237G>A c.(1237-1239)GAA>AAA p.E413K ZBTB40_uc001bfu.2_Missense_Mutation_p.E413K|ZBTB40_uc009vqi.1_Missense_Mutation_p.E301K|ZBTB40_uc001bfv.1_Missense_Mutation_p.E42K NM_001083621 NP_001077090 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 413 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) CAGAATGACTGAAGAGAAGAC 0.483 NaN 0 0 0 1 0 7 51 CNR2 1269 broad.mit.edu 37 1 24201626 24201626 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:24201626G>A uc001bif.2 - 2 609 c.482C>T c.(481-483)TCA>TTA p.S161L NM_001841 NP_001832 P34972 CNR2_HUMAN cannabinoid receptor 2 (macrophage) 161 Helical; Name=4; (Potential). behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response dendrite|integral to plasma membrane|perikaryon cannabinoid receptor activity skin(2)|central_nervous_system(1) 3 Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146) Nabilone(DB00486) GACTAGTGCTGAGAGGACCCA 0.587 NaN 0 0 0 1 0 23 64 MAP3K6 9064 broad.mit.edu 37 1 27683551 27683551 + Missense_Mutation SNP C C A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:27683551C>A uc001bny.1 - 24 3562 c.3313G>T c.(3313-3315)GAC>TAC p.D1105Y MAP3K6_uc009vsw.1_Missense_Mutation_p.D1097Y NM_004672 NP_004663 O95382 M3K6_HUMAN mitogen-activated protein kinase kinase kinase 1105 activation of JUN kinase activity ATP binding|magnesium ion binding|MAP kinase kinase kinase activity breast(4)|lung(3)|ovary(1)|central_nervous_system(1) 9 all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) AGCAGTGAGTCCAGAACGAAC 0.652 NaN 1 0 1.67942e-08 1 1.74647e-08 15 49 OPRD1 4985 broad.mit.edu 37 1 29189416 29189416 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:29189416C>T uc001brf.1 + 3 982 c.740C>T c.(739-741)TCG>TTG p.S247L NM_000911 NP_000902 P41143 OPRD_HUMAN opioid receptor, delta 1 247 Cytoplasmic (Potential). immune response|protein import into nucleus, translocation integral to plasma membrane delta-opioid receptor activity|protein binding ovary(1)|central_nervous_system(1) 2 Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147) Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647) CGCCTGCTGTCGGGCTCCAAG 0.632 NaN 0 0 0 1 0 14 34 LAPTM5 7805 broad.mit.edu 37 1 31210457 31210457 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:31210457G>C uc001bsc.2 - 6 691 c.600C>G c.(598-600)ATC>ATG p.I200M NM_006762 NP_006753 Q13571 LAPM5_HUMAN lysosomal protein transmembrane 5 200 Helical; (Potential). transport integral to plasma membrane|lysosomal membrane 0 Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192) STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649) TCACCTTGAAGATAAGGACAG 0.542 NaN 0 0 0 1 0 26 57 KHDRBS1 10657 broad.mit.edu 37 1 32508200 32508200 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:32508200G>C uc001bub.2 + 9 1413 c.1307G>C c.(1306-1308)AGA>ACA p.R436T KHDRBS1_uc001bua.1_Missense_Mutation_p.R397T|KHDRBS1_uc001buc.1_RNA NM_006559 NP_006550 Q07666 KHDR1_HUMAN KH domain containing, RNA binding, signal 436 cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent membrane|nucleus DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity ovary(1) 1 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) GGAGCATACAGAGAGCACCCA 0.468 NaN 0 0 0 1 0 15 33 IQCC 55721 broad.mit.edu 37 1 32671825 32671825 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:32671825G>A uc001bum.2 + 2 160 c.113G>A c.(112-114)CGA>CAA p.R38Q IQCC_uc009vua.2_Missense_Mutation_p.R118Q|IQCC_uc010ogz.1_5'UTR|DCDC2B_uc001bun.2_5'Flank NM_018134 NP_060604 Q4KMZ1 IQCC_HUMAN IQ motif containing C isoform 2 38 p.R38G(1) ovary(4) 4 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) GCGATTGTACGAGAGGTCGAG 0.612 NaN 0 0 0 1 0 35 108 IQCC 55721 broad.mit.edu 37 1 32673000 32673000 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:32673000G>C uc001bum.2 + 5 765 c.718G>C c.(718-720)GAG>CAG p.E240Q IQCC_uc009vua.2_Missense_Mutation_p.E320Q|IQCC_uc010ogz.1_Missense_Mutation_p.E140Q|DCDC2B_uc001bun.2_5'Flank NM_018134 NP_060604 Q4KMZ1 IQCC_HUMAN IQ motif containing C isoform 2 240 ovary(4) 4 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) GACCACTGGAGAGCTAGAACA 0.547 NaN 0 0 0 1 0 22 49 TSSK3 81629 broad.mit.edu 37 1 32828367 32828367 + Nonsense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:32828367C>G uc001bvf.2 + 1 506 c.65C>G c.(64-66)TCA>TGA p.S22* uc001bve.1_RNA NM_052841 NP_443073 Q96PN8 TSSK3_HUMAN testis-specific serine kinase 3 22 ATP (By similarity).|Protein kinase. cell differentiation|multicellular organismal development|spermatogenesis ATP binding|magnesium ion binding|protein serine/threonine kinase activity stomach(1) 1 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.17)|Breast(348;0.212) GGGACCTACTCAAAAGTCAAA 0.507 NaN 0 0 0 1 0 52 162 RBBP4 5928 broad.mit.edu 37 1 33138099 33138099 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:33138099G>A uc001bvr.2 + 9 1174 c.1015G>A c.(1015-1017)GAT>AAT p.D339N RBBP4_uc001bvs.2_Missense_Mutation_p.D338N|RBBP4_uc010ohj.1_Missense_Mutation_p.D87N|RBBP4_uc010ohk.1_Missense_Mutation_p.D304N NM_005610 NP_005601 Q09028 RBBP4_HUMAN retinoblastoma binding protein 4 isoform a 339 WD 5. cell cycle|CenH3-containing nucleosome assembly at centromere|DNA replication|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent CAF-1 complex|ESC/E(Z) complex|NuRD complex|NURF complex|Sin3 complex histone binding|histone deacetylase binding ovary(1) 1 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837) CAGTGGTACTGATCGCAGACT 0.358 NaN 0 0 0 1 0 16 22 DLGAP3 58512 broad.mit.edu 37 1 35370141 35370141 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:35370141C>T uc001byc.2 - 1 844 c.844G>A c.(844-846)GAG>AAG p.E282K NM_001080418 NP_001073887 O95886 DLGP3_HUMAN discs, large (Drosophila) homolog-associated 282 cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane ovary(3) 3 Myeloproliferative disorder(586;0.0393) CCACCAGGCTCCCCAGGGGGC 0.677 NaN 0 0 0 1 0 33 146 EIF2C3 192669 broad.mit.edu 37 1 36475127 36475127 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:36475127C>G uc001bzp.2 + 9 1337 c.1081C>G c.(1081-1083)CAG>GAG p.Q361E EIF2C3_uc001bzq.2_Missense_Mutation_p.Q127E NM_024852 NP_079128 Q9H9G7 AGO3_HUMAN eukaryotic translation initiation factor 2C, 3 361 mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|cytosol protein binding|RNA binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) AACAGACAATCAGACTTCCAC 0.343 NaN 0 0 0 1 0 13 40 MAP7D1 55700 broad.mit.edu 37 1 36641826 36641826 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:36641826G>C uc001bzz.2 + 7 1093 c.877G>C c.(877-879)GAG>CAG p.E293Q MAP7D1_uc001caa.2_Missense_Mutation_p.E293Q|MAP7D1_uc001cab.2_Missense_Mutation_p.E256Q|MAP7D1_uc001cac.2_5'UTR|MAP7D1_uc001cad.2_5'Flank NM_018067 NP_060537 Q3KQU3 MA7D1_HUMAN MAP7 domain containing 1 293 cytoplasm|spindle ovary(3)|breast(2) 5 Myeloproliferative disorder(586;0.0393) GAGCGCATGGGAGAGCAGCAT 0.667 NaN 0 0 0 1 0 9 53 CSF3R 1441 broad.mit.edu 37 1 36933742 36933742 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:36933742C>T uc001caw.1 - 13 1835 c.1657G>A c.(1657-1659)GAG>AAG p.E553K CSF3R_uc001cat.1_Missense_Mutation_p.E116K|CSF3R_uc009vvc.1_Missense_Mutation_p.E82K|CSF3R_uc001cau.1_5'UTR|CSF3R_uc001cav.1_Missense_Mutation_p.E553K|CSF3R_uc001cax.1_Missense_Mutation_p.E553K|CSF3R_uc001cay.1_Missense_Mutation_p.E553K NM_000760 NP_000751 Q99062 CSF3R_HUMAN colony stimulating factor 3 receptor isoform a 553 Fibronectin type-III 5.|Extracellular (Potential). cell adhesion|defense response extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(2)|ovary(1) 3 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) Filgrastim(DB00099)|Pegfilgrastim(DB00019) TTCCCCAGCTCAGGGGGCTCA 0.592 NaN 0 0 0 1 0 30 81 TRIT1 54802 broad.mit.edu 37 1 40313303 40313303 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:40313303G>A uc010oiz.1 - 7 859 c.845C>T c.(844-846)TCA>TTA p.S282L TRIT1_uc001cec.3_RNA|TRIT1_uc001ced.3_Intron|TRIT1_uc001cee.3_RNA|TRIT1_uc001cef.3_RNA|TRIT1_uc001ceg.3_Missense_Mutation_p.S36L|TRIT1_uc001ceh.3_Missense_Mutation_p.S36L|TRIT1_uc009vvv.2_Missense_Mutation_p.S141L|TRIT1_uc001cei.3_Missense_Mutation_p.S36L|TRIT1_uc001ceq.2_Intron|TRIT1_uc001cek.2_Intron|TRIT1_uc009vvx.2_Intron|TRIT1_uc001cel.2_Intron|TRIT1_uc001cem.2_Missense_Mutation_p.S200L|TRIT1_uc001cen.2_Missense_Mutation_p.S36L|TRIT1_uc001ceo.2_Missense_Mutation_p.S36L|TRIT1_uc001cep.2_Missense_Mutation_p.S36L NM_017646 NP_060116 Q9H3H1 MOD5_HUMAN tRNA isopentenyltransferase 1 precursor 282 Interaction with substrate tRNA (By similarity). tRNA processing mitochondrion ATP binding|metal ion binding|tRNA dimethylallyltransferase activity ovary(1) 1 all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) GAAGCCAATTGATTGGAAGAT 0.378 NaN 0 0 0 1 0 43 111 ZNF684 127396 broad.mit.edu 37 1 41006357 41006357 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:41006357G>A uc001cft.1 + 3 366 c.115G>A c.(115-117)GAG>AAG p.E39K NM_152373 NP_689586 Q5T5D7 ZN684_HUMAN zinc finger protein 684 39 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;5.42e-18) TGTGATGTTGGAGAACTATAG 0.433 NaN 0 0 0 1 0 34 117 ERMAP 114625 broad.mit.edu 37 1 43308331 43308331 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:43308331G>C uc001cic.1 + 12 1126 c.856G>C c.(856-858)GAG>CAG p.E286Q ERMAP_uc001cid.1_RNA|ERMAP_uc001cie.1_Missense_Mutation_p.E286Q|ERMAP_uc001cif.1_Missense_Mutation_p.E196Q NM_001017922 NP_001017922 Q96PL5 ERMAP_HUMAN erythroblast membrane-associated protein 286 Cytoplasmic (Potential).|B30.2/SPRY. Missing (in Sc-3 allele). integral to membrane|plasma membrane ovary(1) 1 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) CCTAGGCTCTGAGTACTTCAC 0.507 NaN 0 0 0 1 0 27 124 TOE1 114034 broad.mit.edu 37 1 45809319 45809319 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:45809319C>T uc009vxq.2 + 8 2061 c.1478C>T c.(1477-1479)TCT>TTT p.S493F TOE1_uc001cnq.3_RNA|TOE1_uc010olm.1_Missense_Mutation_p.S413F|TOE1_uc001cnr.3_RNA NM_025077 NP_079353 Q96GM8 TOE1_HUMAN target of EGR1, member 1 (nuclear) 493 nuclear speck|nucleolus nucleic acid binding|zinc ion binding central_nervous_system(1) 1 Acute lymphoblastic leukemia(166;0.155) AGCCAGTTCTCTCGTTCCTCC 0.532 NaN 0 0 0 1 0 28 90 TESK2 10420 broad.mit.edu 37 1 45811142 45811142 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:45811142G>C uc001cns.1 - 11 1489 c.1086C>G c.(1084-1086)ATC>ATG p.I362M TESK2_uc009vxr.1_Missense_Mutation_p.I333M|TESK2_uc010olo.1_Missense_Mutation_p.I279M|TESK2_uc009vxs.1_Missense_Mutation_p.I154M NM_007170 NP_009101 Q96S53 TESK2_HUMAN testis-specific protein kinase 2 362 actin cytoskeleton organization|focal adhesion assembly|spermatogenesis nucleus ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(2)|breast(2)|pancreas(1) 5 Acute lymphoblastic leukemia(166;0.155) GAGACAGCCAGATGGTACGTC 0.537 NaN 0 0 0 1 0 15 57 TESK2 10420 broad.mit.edu 37 1 45811226 45811226 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:45811226G>A uc001cns.1 - 11 1405 c.1002C>T c.(1000-1002)CTC>CTT p.L334L TESK2_uc009vxr.1_Silent_p.L305L|TESK2_uc010olo.1_Silent_p.L251L|TESK2_uc009vxs.1_Silent_p.L126L NM_007170 NP_009101 Q96S53 TESK2_HUMAN testis-specific protein kinase 2 334 actin cytoskeleton organization|focal adhesion assembly|spermatogenesis nucleus ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(2)|breast(2)|pancreas(1) 5 Acute lymphoblastic leukemia(166;0.155) CTTTCTCCAAGAGTCCTGAAG 0.438 NaN 0 0 0 1 0 12 50 RAD54L 8438 broad.mit.edu 37 1 46715746 46715746 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:46715746G>C uc009vye.2 + 4 279 c.165G>C c.(163-165)TTG>TTC p.L55F RAD54L_uc001cpl.2_Missense_Mutation_p.L55F NM_001142548 NP_001136020 Q92698 RAD54_HUMAN RAD54-like protein 55 meiosis nucleus ATP binding|DNA binding|helicase activity ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(166;0.155) Breast(1374;0.0634) KIRC - Kidney renal clear cell carcinoma(1967;0.000896) GGAAACCTTTGAGTCAGCTAA 0.498 NaN Direct_reversal_of_damage|Homologous_recombination 0 0 0 1 0 32 97 DMRTA2 63950 broad.mit.edu 37 1 50884475 50884475 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:50884475G>A uc010ona.1 - 2 1587 c.1491C>T c.(1489-1491)TTC>TTT p.F497F DMRTA2_uc010onb.1_Silent_p.F497F NM_032110 NP_115486 Q96SC8 DMTA2_HUMAN DMRT-like family A2 497 Ala-rich. sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity 0 TGGGTGGGCGGAAGCCGAGCG 0.726 NaN 0 0 0 1 0 8 17 NRD1 4898 broad.mit.edu 37 1 52258060 52258060 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:52258060C>G uc001ctc.3 - 27 3338 c.3016G>C c.(3016-3018)GAG>CAG p.E1006Q NRD1_uc009vzb.2_Missense_Mutation_p.E701Q|NRD1_uc001ctd.3_Missense_Mutation_p.E938Q|NRD1_uc001cte.2_Missense_Mutation_p.E874Q|NRD1_uc001ctf.2_Missense_Mutation_p.E938Q NM_002525 NP_002516 O43847 NRDC_HUMAN nardilysin isoform a 937 cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity cell surface|cytosol epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding 0 ACAAGCAGCTCCATAAGCGTA 0.488 NaN 0 0 0 1 0 12 63 ZCCHC11 23318 broad.mit.edu 37 1 52941198 52941198 + Missense_Mutation SNP G G A rs143625963 byFrequency TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:52941198G>A uc001ctx.2 - 13 2267 c.2033C>T c.(2032-2034)TCA>TTA p.S678L ZCCHC11_uc001cty.2_Missense_Mutation_p.S678L|ZCCHC11_uc001ctz.2_Missense_Mutation_p.S678L|ZCCHC11_uc009vze.1_Missense_Mutation_p.S678L|ZCCHC11_uc009vzf.1_Missense_Mutation_p.S437L|ZCCHC11_uc001cub.2_Missense_Mutation_p.S678L NM_015269 NP_056084 Q5TAX3 TUT4_HUMAN zinc finger, CCHC domain containing 11 isoform 678 PAP-associated 1. miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance cytoplasm|nucleolus nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding ovary(2)|skin(1) 3 CCTCTTGACTGAAAATGGATC 0.393 NaN 0 0 0 1 0 8 22 PODN 127435 broad.mit.edu 37 1 53540288 53540288 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:53540288G>C uc001cuv.2 + 4 568 c.561G>C c.(559-561)GAG>GAC p.E187D PODN_uc001cuw.2_Missense_Mutation_p.E168D|PODN_uc010onr.1_Missense_Mutation_p.E168D|PODN_uc010ons.1_Intron NM_153703 NP_714914 Q7Z5L7 PODN_HUMAN podocan 139 LRR 2. negative regulation of cell migration|negative regulation of cell proliferation cytoplasm|extracellular space|proteinaceous extracellular matrix collagen binding ovary(1)|pancreas(1) 2 GGCTCCCAGAGAAGGCGTTTG 0.607 NaN 0 0 0 1 0 62 212 SLC1A7 6512 broad.mit.edu 37 1 53580452 53580452 + Missense_Mutation SNP C C G rs149844615 byFrequency TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:53580452C>G uc001cuy.2 - 3 577 c.409G>C c.(409-411)GAT>CAT p.D137H SLC1A7_uc001cuz.3_Missense_Mutation_p.D137H|uc001cva.1_RNA NM_006671 NP_006662 O00341 EAA5_HUMAN solute carrier family 1 (glutamate transporter), 137 Extracellular (Potential). integral to membrane|plasma membrane high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity ovary(2)|large_intestine(1) 3 Colorectal(1306;0.234) L-Glutamic Acid(DB00142) AACAGGGCATCGGCTGAGCTC 0.642 NaN 0 0 0 1 0 14 42 TACSTD2 4070 broad.mit.edu 37 1 59042364 59042364 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:59042364G>A uc001cyz.3 - 1 803 c.465C>T c.(463-465)CTC>CTT p.L155L NM_002353 NP_002344 P09758 TACD2_HUMAN tumor-associated calcium signal transducer 2 155 Extracellular (Potential). cell proliferation|cell surface receptor linked signaling pathway|visual perception cytosol|integral to plasma membrane receptor activity 0 all_cancers(7;6.54e-05) GCAGGTCAATGAGGATGTGGT 0.692 NaN 0 0 0 1 0 7 22 FGGY 55277 broad.mit.edu 37 1 59844459 59844459 + Missense_Mutation SNP C C A rs146728237 byFrequency TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:59844459C>A uc001czi.3 + 5 716 c.504C>A c.(502-504)TTC>TTA p.F168L FGGY_uc001czg.2_Missense_Mutation_p.F56L|FGGY_uc001czh.2_RNA|FGGY_uc009wac.2_Missense_Mutation_p.F168L|FGGY_uc001czj.3_Missense_Mutation_p.F168L|FGGY_uc001czk.3_Missense_Mutation_p.F56L|FGGY_uc001czl.3_Missense_Mutation_p.F80L NM_018291 NP_060761 Q96C11 FGGY_HUMAN FGGY carbohydrate kinase domain containing 168 carbohydrate metabolic process|cell death|neuron homeostasis kinase activity|phosphotransferase activity, alcohol group as acceptor ovary(1) 1 all_cancers(7;7.36e-05) CGGGACATTTCTTTGATCTCC 0.403 NaN 1 0 2.61681e-11 1 2.73642e-11 13 57 INADL 10207 broad.mit.edu 37 1 62483543 62483543 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:62483543C>T uc001dab.2 + 29 3997 c.3883C>T c.(3883-3885)CTG>TTG p.L1295L INADL_uc009waf.1_Silent_p.L1295L|INADL_uc001daa.2_Silent_p.L1295L|INADL_uc001dad.3_Silent_p.L992L|INADL_uc001dac.2_RNA|INADL_uc010oot.1_Silent_p.L79L|INADL_uc009wag.2_Silent_p.L79L|INADL_uc010oou.1_Intron NM_176877 NP_795352 Q8NI35 INADL_HUMAN InaD-like 1295 PDZ 7. intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding ovary(3)|skin(1) 4 CAATCAGATTCTGTATGGAAG 0.338 NaN 0 0 0 1 0 25 53 FAM73A 374986 broad.mit.edu 37 1 78269066 78269066 + Nonsense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:78269066C>G uc001dhx.2 + 4 517 c.485C>G c.(484-486)TCA>TGA p.S162* FAM73A_uc010ork.1_Nonsense_Mutation_p.S162*|FAM73A_uc010orl.1_Nonsense_Mutation_p.S124*|FAM73A_uc001dhy.1_5'UTR NM_198549 NP_940951 Q8NAN2 FA73A_HUMAN hypothetical protein LOC374986 162 integral to membrane ovary(1) 1 Colorectal(170;0.226) AGTAAATATTCAGGTTCTGCA 0.303 NaN 0 0 0 1 0 10 36 CLCA1 1179 broad.mit.edu 37 1 86952367 86952367 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:86952367C>T uc001dlt.2 + 7 1242 c.1113C>T c.(1111-1113)CTC>CTT p.L371L CLCA1_uc001dls.1_Silent_p.L310L NM_001285 NP_001276 A8K7I4 CLCA1_HUMAN chloride channel accessory 1 precursor 371 VWFA. calcium ion transport extracellular space|integral to plasma membrane chloride channel activity ovary(1) 1 Lung NSC(277;0.239) all cancers(265;0.0249)|Epithelial(280;0.0476) GGGACACACTCGCCAAAAGAT 0.488 NaN 0 0 0 1 0 31 82 TGFBR3 7049 broad.mit.edu 37 1 92177859 92177859 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:92177859G>C uc001doh.2 - 13 2573 c.2107C>G c.(2107-2109)CTA>GTA p.L703V TGFBR3_uc009wde.2_Intron|TGFBR3_uc010osy.1_Missense_Mutation_p.L661V|TGFBR3_uc001doi.2_Missense_Mutation_p.L702V|TGFBR3_uc001doj.2_Missense_Mutation_p.L702V NM_003243 NP_003234 Q03167 TGBR3_HUMAN transforming growth factor, beta receptor III 703 ZP.|Extracellular (Potential). BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding ovary(3) 3 all_lung(203;0.00719)|Lung NSC(277;0.0268) all cancers(265;0.0108)|Epithelial(280;0.0825) TCACACTGTAGAAAGAGCAGT 0.488 NaN 0 0 0 1 0 16 53 GLMN 11146 broad.mit.edu 37 1 92752071 92752071 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:92752071G>A uc001dor.2 - 7 826 c.711C>T c.(709-711)TTC>TTT p.F237F GLMN_uc009wdg.2_RNA|GLMN_uc001dos.2_Silent_p.F237F NM_053274 NP_444504 Q92990 GLMN_HUMAN glomulin 237 muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis intracellular hepatocyte growth factor receptor binding skin(1) 1 all_lung(203;0.00827)|Lung NSC(277;0.0295) all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989) CAAAATACCTGAAAGGATCAT 0.333 NaN Multiple_Glomus_Tumors_(of_the_Skin)_Familial 0 0 0 1 0 16 38 GLMN 11146 broad.mit.edu 37 1 92752143 92752143 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:92752143G>A uc001dor.2 - 7 754 c.639C>T c.(637-639)TTC>TTT p.F213F GLMN_uc009wdg.2_RNA|GLMN_uc001dos.2_Silent_p.F213F NM_053274 NP_444504 Q92990 GLMN_HUMAN glomulin 213 muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis intracellular hepatocyte growth factor receptor binding skin(1) 1 all_lung(203;0.00827)|Lung NSC(277;0.0295) all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989) TCAAGCTTTTGAAACAACTAA 0.318 NaN Multiple_Glomus_Tumors_(of_the_Skin)_Familial 0 0 0 1 0 14 40 EVI5 7813 broad.mit.edu 37 1 92979392 92979392 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:92979392C>T uc001dox.2 - 18 2264 c.2254G>A c.(2254-2256)GAA>AAA p.E752K EVI5_uc010otf.1_Missense_Mutation_p.E763K NM_005665 NP_005656 O60447 EVI5_HUMAN ecotropic viral integration site 5 752 Targeting to the centrosomes.|Interaction with AURKB and INCENP. cell cycle|cell division|cell proliferation|multicellular organismal development microtubule organizing center|nucleus|spindle protein binding|Rab GTPase activator activity ovary(1)|breast(1) 2 all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203) Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211) ACACCAGTTTCCTGTAAGGAA 0.428 NaN 0 0 0 1 0 17 81 ARHGAP29 9411 broad.mit.edu 37 1 94668138 94668138 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:94668138C>G uc001dqj.3 - 11 1474 c.1105G>C c.(1105-1107)GAA>CAA p.E369Q ARHGAP29_uc009wdq.1_RNA|ARHGAP29_uc001dql.2_Missense_Mutation_p.E369Q NM_004815 NP_004806 Q52LW3 RHG29_HUMAN PTPL1-associated RhoGAP 1 369 Potential. Rho protein signal transduction cytosol metal ion binding|Rho GTPase activator activity breast(4)|skin(3)|lung(2)|upper_aerodigestive_tract(1)|ovary(1) 11 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) CGCTTTTTTTCTAGTTGCTTG 0.393 NaN 0 0 0 1 0 29 89 DPYD 1806 broad.mit.edu 37 1 97915689 97915689 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:97915689C>T uc001drv.2 - 14 1968 c.1831G>A c.(1831-1833)GAG>AAG p.E611K NM_000110 NP_000101 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase isoform 1 611 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity ovary(3)|skin(3)|breast(2) 8 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) CTGATGAGCTCAATATTCAGA 0.448 NaN 0 0 0 1 0 19 81 AGL 178 broad.mit.edu 37 1 100357997 100357997 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:100357997G>C uc001dsi.1 + 24 3493 c.3093G>C c.(3091-3093)CAG>CAC p.Q1031H AGL_uc001dsj.1_Missense_Mutation_p.Q1031H|AGL_uc001dsk.1_Missense_Mutation_p.Q1031H|AGL_uc001dsl.1_Missense_Mutation_p.Q1031H|AGL_uc001dsm.1_Missense_Mutation_p.Q1015H|AGL_uc001dsn.1_Missense_Mutation_p.Q1014H NM_000642 NP_000633 P35573 GDE_HUMAN amylo-1,6-glucosidase, 1031 4-alpha-glucanotransferase. glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|isoamylase complex|nucleus 4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131) Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237) GCTTTGTTCAGAATGGTTCAA 0.348 NaN 0 0 0 1 0 9 47 SLC35A3 23443 broad.mit.edu 37 1 100464840 100464840 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:100464840C>G uc001dsp.1 + 3 408 c.211C>G c.(211-213)CGA>GGA p.R71G SLC35A3_uc001dsq.1_Missense_Mutation_p.R71G|SLC35A3_uc009wdy.1_Missense_Mutation_p.R71G|SLC35A3_uc001dsr.1_Missense_Mutation_p.R113G|SLC35A3_uc001dss.1_Translation_Start_Site NM_012243 NP_036375 Q9Y2D2 S35A3_HUMAN solute carrier family 35 member 3A 71 UDP-N-acetylglucosamine metabolic process Golgi membrane|integral to membrane sugar:hydrogen symporter activity|UDP-N-acetylglucosamine transmembrane transporter activity 0 all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155) Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199) AGCACTGAATCGAGTACTACA 0.239 NaN 0 0 0 1 0 14 25 GPR88 54112 broad.mit.edu 37 1 101004970 101004970 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:101004970C>G uc001dth.2 + 2 852 c.448C>G c.(448-450)CAG>GAG p.Q150E NM_022049 NP_071332 Q9GZN0 GPR88_HUMAN G-protein coupled receptor 88 150 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity 0 all_epithelial(167;1.19e-05)|all_lung(203;0.00159)|Lung NSC(277;0.00171) Epithelial(280;0.0372)|all cancers(265;0.0558)|COAD - Colon adenocarcinoma(174;0.141)|Colorectal(144;0.156)|Lung(183;0.189) CGCCACCTACCAGGCGCTGTA 0.741 NaN 0 0 0 1 0 3 17 WDR47 22911 broad.mit.edu 37 1 109517317 109517317 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:109517317C>T uc001dwj.2 - 14 2834 c.2458G>A c.(2458-2460)GAA>AAA p.E820K WDR47_uc001dwl.2_Missense_Mutation_p.E828K|WDR47_uc001dwi.2_Missense_Mutation_p.E821K|WDR47_uc010ovf.1_Missense_Mutation_p.E745K NM_001142551 NP_001136023 O94967 WDR47_HUMAN WD repeat domain 47 isoform 3 820 WD 5. ovary(1) 1 all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822) Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244) CTAGAATCTTCTTGACCTGTG 0.438 NaN 0 0 0 1 0 7 19 CELSR2 1952 broad.mit.edu 37 1 109794764 109794764 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:109794764C>T uc001dxa.3 + 1 2124 c.2063C>T c.(2062-2064)TCC>TTC p.S688F NM_001408 NP_001399 Q9HCU4 CELR2_HUMAN cadherin EGF LAG seven-pass G-type receptor 2 688 Cadherin 5.|Extracellular (Potential). dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(4)|lung(3)|skin(1) 8 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) GTTACCGCCTCCGATGGCACT 0.557 NaN 0 0 0 1 0 40 65 SORT1 6272 broad.mit.edu 37 1 109865577 109865577 + Silent SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:109865577G>C uc001dxm.1 - 15 2050 c.2001C>G c.(1999-2001)CTC>CTG p.L667L SORT1_uc010ovi.1_Silent_p.L530L NM_002959 NP_002950 Q99523 SORT_HUMAN sortilin 1 preproprotein 667 Interactions with LRPAP1 and NGFB.|Extracellular (Potential). endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled ovary(1) 1 all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184) CCAGGGAACAGAGGCAGATGG 0.488 NaN 0 0 0 1 0 11 43 C1orf103 55791 broad.mit.edu 37 1 111492647 111492647 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:111492647C>T uc001eaa.2 - 3 1951 c.1695G>A c.(1693-1695)AAG>AAA p.K565K C1orf103_uc001dzz.2_Silent_p.K29K|C1orf103_uc001eab.2_Silent_p.K29K|C1orf103_uc001eac.1_Silent_p.K29K NM_018372 NP_060842 Q5T3J3 LRIF1_HUMAN receptor-interacting factor 1 isoform 1 565 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix protein binding 0 all_cancers(81;1.02e-05)|all_epithelial(167;1.87e-05)|all_lung(203;0.000234)|Lung NSC(277;0.000451) Lung(183;0.0155)|Colorectal(144;0.0314)|all cancers(265;0.082)|LUSC - Lung squamous cell carcinoma(189;0.0826)|Epithelial(280;0.0891)|COAD - Colon adenocarcinoma(174;0.134) CAGCATCACTCTTCAGATGTA 0.383 NaN 0 0 0 1 0 16 61 DENND2D 79961 broad.mit.edu 37 1 111734819 111734819 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:111734819G>A uc001eak.1 - 8 1115 c.915C>T c.(913-915)TTC>TTT p.F305F DENND2D_uc001eal.1_Silent_p.F302F NM_024901 NP_079177 Q9H6A0 DEN2D_HUMAN DENN/MADD domain containing 2D 305 DENN. ovary(1) 1 all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499) Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14) CTCCAACCATGAAGGGGGTGG 0.473 NaN 0 0 0 1 0 17 52 MOV10 4343 broad.mit.edu 37 1 113241408 113241408 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:113241408G>C uc001eck.2 + 17 2850 c.2580G>C c.(2578-2580)TTG>TTC p.L860F MOV10_uc001ecl.2_Intron|MOV10_uc001ecn.2_Missense_Mutation_p.L860F|MOV10_uc001ecm.2_Missense_Mutation_p.L800F NM_001130079 NP_001123551 Q9HCE1 MOV10_HUMAN Mov10, Moloney leukemia virus 10, homolog 860 mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body ATP binding|helicase activity|protein binding|RNA binding ovary(4)|skin(1) 5 Lung SC(450;0.246) all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114) OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24) TCAAGGACTTGAAGGTGACAT 0.557 NaN 0 0 0 1 0 52 166 MOV10 4343 broad.mit.edu 37 1 113242322 113242322 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:113242322G>A uc001eck.2 + 18 2869 c.2599G>A c.(2599-2601)GAA>AAA p.E867K MOV10_uc001ecl.2_Intron|MOV10_uc001ecn.2_Missense_Mutation_p.E867K|MOV10_uc001ecm.2_Missense_Mutation_p.E807K NM_001130079 NP_001123551 Q9HCE1 MOV10_HUMAN Mov10, Moloney leukemia virus 10, homolog 867 mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body ATP binding|helicase activity|protein binding|RNA binding ovary(4)|skin(1) 5 Lung SC(450;0.246) all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114) OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24) TTCAGTAGAAGAATTCCAAGG 0.453 NaN 0 0 0 1 0 36 142 MOV10 4343 broad.mit.edu 37 1 113242368 113242368 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:113242368G>A uc001eck.2 + 18 2915 c.2645G>A c.(2644-2646)CGA>CAA p.R882Q MOV10_uc001ecl.2_Intron|MOV10_uc001ecn.2_Missense_Mutation_p.R882Q|MOV10_uc001ecm.2_Missense_Mutation_p.R822Q NM_001130079 NP_001123551 Q9HCE1 MOV10_HUMAN Mov10, Moloney leukemia virus 10, homolog 882 mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body ATP binding|helicase activity|protein binding|RNA binding ovary(4)|skin(1) 5 Lung SC(450;0.246) all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114) OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24) TCCACCGTGCGAAGCAGCCAG 0.552 NaN 0 0 0 1 0 54 171 MAGI3 260425 broad.mit.edu 37 1 114189165 114189165 + Nonsense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:114189165C>T uc001edk.2 + 12 2237 c.2056C>T c.(2056-2058)CAG>TAG p.Q686* MAGI3_uc001edh.3_Nonsense_Mutation_p.Q711*|MAGI3_uc001edi.3_Nonsense_Mutation_p.Q686*|MAGI3_uc010owm.1_Nonsense_Mutation_p.Q711*|MAGI3_uc001edj.2_Nonsense_Mutation_p.Q407* NM_001142782 NP_001136254 Q5TCQ9 MAGI3_HUMAN membrane-associated guanylate kinase-related 3 711 apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding lung(3)|ovary(2)|central_nervous_system(1) 6 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-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) GCCTATTCCTCAGCCTATGCC 0.383 NaN 0 0 0 1 0 8 45 MAGI3 260425 broad.mit.edu 37 1 114226163 114226163 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:114226163G>A uc001edk.2 + 21 4154 c.3973G>A c.(3973-3975)GAG>AAG p.E1325K MAGI3_uc001edi.3_3'UTR|MAGI3_uc010owm.1_3'UTR|MAGI3_uc001edj.2_3'UTR|MAGI3_uc009wgo.2_RNA NM_001142782 NP_001136254 Q5TCQ9 MAGI3_HUMAN membrane-associated guanylate kinase-related 3 1350 apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding lung(3)|ovary(2)|central_nervous_system(1) 6 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-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) CAGTAATGCTGAGCAGATCCC 0.423 NaN 0 0 0 1 0 18 52 TRIM33 51592 broad.mit.edu 37 1 114976330 114976330 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:114976330G>C uc001eew.2 - 5 1033 c.949C>G c.(949-951)CAA>GAA p.Q317E TRIM33_uc010ows.1_5'UTR|TRIM33_uc001eex.2_Missense_Mutation_p.Q317E NM_015906 NP_056990 Q9UPN9 TRI33_HUMAN tripartite motif-containing 33 protein isoform 317 Necessary for oligomerization.|Potential. negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent nucleus co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding lung(4)|central_nervous_system(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1) 11 all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184) all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TTCTGATTTTGAAAAGCTTCT 0.313 NaN T RET papillary thyroid 0 0 0 1 0 11 26 CD58 965 broad.mit.edu 37 1 117078795 117078795 + Silent SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:117078795G>C uc001egm.2 - 3 541 c.420C>G c.(418-420)GTC>GTG p.V140V CD58_uc001egn.2_RNA|CD58_uc010owy.1_Silent_p.V140V|CD58_uc001ego.1_Intron|CD58_uc001egp.3_Silent_p.V140V NM_001779 NP_001770 P19256 LFA3_HUMAN CD58 molecule isoform 1 140 Extracellular (Potential).|Ig-like C2-type. blood coagulation|cell-cell adhesion|leukocyte migration anchored to membrane|integral to plasma membrane protein binding 0 Lung SC(450;0.225) all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577) Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121) TCATGCATTGGACTTCAATGC 0.358 NaN 0 0 0 1 0 11 29 IGSF3 3321 broad.mit.edu 37 1 117142914 117142914 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:117142914C>T uc001egr.1 - 7 2383 c.1678G>A c.(1678-1680)GAC>AAC p.D560N IGSF3_uc001egq.1_Missense_Mutation_p.D580N|IGSF3_uc001egs.1_Missense_Mutation_p.D233N NM_001007237 NP_001007238 O75054 IGSF3_HUMAN immunoglobulin superfamily, member 3 isoform 2 560 Ig-like C2-type 5.|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) TCAAAGGAGTCGCTGTAGGTC 0.587 NaN 0 0 0 1 0 16 38 PTGFRN 5738 broad.mit.edu 37 1 117509931 117509931 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:117509931G>C uc001egv.1 + 6 2175 c.2038G>C c.(2038-2040)GAG>CAG p.E680Q NM_020440 NP_065173 Q9P2B2 FPRP_HUMAN prostaglandin F2 receptor negative regulator 680 Extracellular (Potential). endoplasmic reticulum membrane|Golgi apparatus|integral to membrane protein binding liver(1) 1 Lung SC(450;0.225) all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446) Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248) CAATCCTATTGAGATAGACTT 0.522 NaN 0 0 0 1 0 21 69 SPAG17 200162 broad.mit.edu 37 1 118535110 118535110 + Silent SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:118535110C>G uc001ehk.2 - 36 5408 c.5340G>C c.(5338-5340)CTG>CTC p.L1780L NM_206996 NP_996879 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1780 cilium|flagellar axoneme|microtubule upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1) 6 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) CCTGCAGCCTCAGTTTCACCT 0.463 NaN 0 0 0 1 0 24 69 ADAM30 11085 broad.mit.edu 37 1 120436660 120436660 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:120436660C>T uc001eij.2 - 1 2454 c.2300G>A c.(2299-2301)GGA>GAA p.G767E NM_021794 NP_068566 Q9UKF2 ADA30_HUMAN ADAM metallopeptidase domain 30 preproprotein 767 4.|Cytoplasmic (Potential).|5 X 9 AA approximate repeats. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding ovary(2)|lung(1) 3 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138) Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117) TTCTTCCTGTCCAGTTTTTGC 0.358 NaN 0 0 0 1 0 54 190 PDE4DIP 9659 broad.mit.edu 37 1 144876029 144876029 + Splice_Site SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:144876029C>G uc001elw.3 - 29 4943 c.4652_splice c.e29-1 p.K1551_splice NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Splice_Site_p.K1507_splice|PDE4DIP_uc001elv.3_Splice_Site_p.K558_splice NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TTATGATCCTCTGTAAACCAA 0.458 NaN T PDGFRB MPD 0 0 0 1 0 37 288 NOTCH2NL 388677 broad.mit.edu 37 1 145273377 145273377 + Silent SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:145273377G>C uc001emn.3 + 3 601 c.231G>C c.(229-231)CTG>CTC p.L77L NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_5'UTR|NOTCH2NL_uc001emm.3_Silent_p.L77L|NOTCH2NL_uc001emo.2_Silent_p.L77L|NOTCH2NL_uc010oyh.1_RNA NM_203458 NP_982283 Q7Z3S9 NT2NL_HUMAN Notch homolog 2 N-terminal like protein 77 EGF-like 3. cell differentiation|multicellular organismal development|Notch signaling pathway cytoplasm|extracellular region calcium ion binding ovary(1) 1 GACCTTGCCTGAATGGCGGCA 0.532 NaN 0 0 0 1 0 40 574 BCL9 607 broad.mit.edu 37 1 147091378 147091378 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:147091378C>T uc001epq.2 + 8 2157 c.1417C>T c.(1417-1419)CTG>TTG p.L473L BCL9_uc010ozr.1_Silent_p.L399L NM_004326 NP_004317 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 473 Pro-rich. Wnt receptor signaling pathway nucleus protein binding ovary(2)|large_intestine(2)|breast(1)|skin(1) 6 all_hematologic(923;0.115) GATAGCGTGGCTGAAACTGCA 0.517 NaN T IGH@|IGL@ B-ALL 0 0 0 1 0 34 84 BCL9 607 broad.mit.edu 37 1 147091483 147091483 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:147091483C>T uc001epq.2 + 8 2262 c.1522C>T c.(1522-1524)CGG>TGG p.R508W BCL9_uc010ozr.1_Missense_Mutation_p.R434W NM_004326 NP_004317 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 508 Pro-rich. Wnt receptor signaling pathway nucleus protein binding ovary(2)|large_intestine(2)|breast(1)|skin(1) 6 all_hematologic(923;0.115) GCACGGGCCTCGGGGAGTGGT 0.567 NaN T IGH@|IGL@ B-ALL 0 0 0 1 0 36 152 HORMAD1 84072 broad.mit.edu 37 1 150679155 150679155 + Silent SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:150679155C>G uc001evk.1 - 10 784 c.678G>C c.(676-678)GTG>GTC p.V226V HORMAD1_uc001evl.1_Silent_p.V219V|HORMAD1_uc001evm.1_Silent_p.V146V NM_032132 NP_115508 Q86X24 HORM1_HUMAN HORMA domain containing 1 226 HORMA. blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly chromosome|nucleus ovary(2)|central_nervous_system(1) 3 all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171) TCTCAGTGGTCACTTTTACTT 0.348 NaN 0 0 0 1 0 19 82 ANXA9 8416 broad.mit.edu 37 1 150956496 150956496 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:150956496G>C uc001ewa.2 + 5 688 c.218G>C c.(217-219)AGA>ACA p.R73T NM_003568 NP_003559 O76027 ANXA9_HUMAN annexin A9 73 Annexin 1. cell-cell adhesion cell surface|cytosol acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity 0 all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) AACCGGAGCAGAGAGCAAAGG 0.587 NaN 0 0 0 1 0 4 27 SEMA6C 10500 broad.mit.edu 37 1 151107335 151107335 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:151107335G>C uc001ewu.2 - 16 1897 c.1597C>G c.(1597-1599)CAG>GAG p.Q533E SEMA6C_uc001ewv.2_Missense_Mutation_p.Q533E|SEMA6C_uc001eww.2_Missense_Mutation_p.Q493E|SEMA6C_uc010pcq.1_Missense_Mutation_p.Q533E NM_030913 NP_112175 Q9H3T2 SEM6C_HUMAN semaphorin Y precursor 533 Extracellular (Potential). integral to membrane receptor activity ovary(1)|skin(1) 2 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) TATGGGTCCTGAGAAGCCAAA 0.522 NaN 0 0 0 1 0 18 65 SEMA6C 10500 broad.mit.edu 37 1 151108595 151108595 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:151108595G>A uc001ewu.2 - 13 1451 c.1151C>T c.(1150-1152)TCT>TTT p.S384F SEMA6C_uc001ewv.2_Missense_Mutation_p.S384F|SEMA6C_uc001eww.2_Missense_Mutation_p.S344F|SEMA6C_uc010pcq.1_Missense_Mutation_p.S384F NM_030913 NP_112175 Q9H3T2 SEM6C_HUMAN semaphorin Y precursor 384 Extracellular (Potential).|Sema. integral to membrane receptor activity ovary(1)|skin(1) 2 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) GTCTCGGGAAGAGGAGAACAA 0.592 NaN 0 0 0 1 0 13 77 SEMA6C 10500 broad.mit.edu 37 1 151108598 151108598 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:151108598G>A uc001ewu.2 - 13 1448 c.1148C>T c.(1147-1149)TCC>TTC p.S383F SEMA6C_uc001ewv.2_Missense_Mutation_p.S383F|SEMA6C_uc001eww.2_Missense_Mutation_p.S343F|SEMA6C_uc010pcq.1_Missense_Mutation_p.S383F NM_030913 NP_112175 Q9H3T2 SEM6C_HUMAN semaphorin Y precursor 383 Extracellular (Potential).|Sema. integral to membrane receptor activity ovary(1)|skin(1) 2 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) TCGGGAAGAGGAGAACAAGGC 0.592 NaN 0 0 0 1 0 11 77 POGZ 23126 broad.mit.edu 37 1 151378586 151378586 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:151378586C>T uc001eyd.1 - 19 3231 c.2925G>A c.(2923-2925)GTG>GTA p.V975V POGZ_uc001eye.1_Silent_p.V922V|POGZ_uc010pdb.1_Silent_p.V966V|POGZ_uc001eyf.1_Silent_p.V931V|POGZ_uc010pdc.1_Silent_p.V913V|POGZ_uc009wmv.1_Silent_p.V880V|POGZ_uc010pdd.1_Silent_p.V466V NM_015100 NP_055915 Q7Z3K3 POGZ_HUMAN pogo transposable element with ZNF domain 975 cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent cytoplasm|nuclear chromatin DNA binding|protein binding|zinc ion binding ovary(3) 3 Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) GAAGCTTCTTCACAGACAGCT 0.517 NaN 0 0 0 1 0 35 112 CGN 57530 broad.mit.edu 37 1 151492649 151492649 + Nonsense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:151492649C>G uc009wmw.2 + 3 1025 c.881C>G c.(880-882)TCA>TGA p.S294* NM_020770 NP_065821 Q9P2M7 CING_HUMAN cingulin 288 Interacts with ZO-2.|Head. myosin complex|tight junction actin binding|motor activity ovary(2)|pancreas(1) 3 Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) CAGTTCAAATCAACTCCAGAC 0.438 NaN 0 0 0 1 0 9 41 TCHH 7062 broad.mit.edu 37 1 152085023 152085023 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:152085023C>T uc001ezp.2 - 2 670 c.670G>A c.(670-672)GAG>AAG p.E224K TCHH_uc009wne.1_Missense_Mutation_p.E224K NM_007113 NP_009044 Q07283 TRHY_HUMAN trichohyalin 224 keratinization cytoskeleton calcium ion binding ovary(3)|kidney(1)|central_nervous_system(1) 5 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGTTTCTCCTCGCGGCCCTTC 0.572 NaN 0 0 0 1 0 68 229 RPTN 126638 broad.mit.edu 37 1 152128074 152128074 + Nonsense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:152128074G>A uc001ezs.1 - 3 1566 c.1501C>T c.(1501-1503)CAG>TAG p.Q501* NM_001122965 NP_001116437 Q6XPR3 RPTN_HUMAN repetin 501 Gln-rich. proteinaceous extracellular matrix calcium ion binding 0 CCGTCTGGCTGACCATAATGA 0.507 NaN 0 0 0 1 0 204 672 HRNR 388697 broad.mit.edu 37 1 152187713 152187713 + Missense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:152187713G>T uc001ezt.1 - 3 6468 c.6392C>A c.(6391-6393)TCT>TAT p.S2131Y NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 2131 keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCCGTAGCCAGAGGAGTGACC 0.567 NaN 1 0 1.36615e-20 1 1.45282e-20 19 531 FLG 2312 broad.mit.edu 37 1 152283449 152283449 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:152283449C>T uc001ezu.1 - 3 3949 c.3913G>A c.(3913-3915)GGC>AGC p.G1305S uc001ezv.2_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1305 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) tgtctggagccatctcttgac 0.378 NaN Ichthyosis 0 0 0 1 0 82 258 FLAD1 80308 broad.mit.edu 37 1 154956263 154956263 + Silent SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:154956263C>G uc001fgf.1 + 1 447 c.93C>G c.(91-93)CTC>CTG p.L31L FLAD1_uc001fgc.2_Intron|FLAD1_uc001fgd.1_Silent_p.L31L|FLAD1_uc001fge.1_Intron|FLAD1_uc001fgg.1_Intron NM_025207 NP_079483 Q8NFF5 FAD1_HUMAN flavin adenine dinucleotide synthetase isoform 31 FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol ATP binding|FMN adenylyltransferase activity ovary(2)|skin(1) 3 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) GGGTCTTCCTCGAAGGAAGCA 0.552 NaN 0 0 0 1 0 36 101 DCST2 127579 broad.mit.edu 37 1 155001832 155001832 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:155001832G>A uc001fgm.2 - 8 1299 c.1219C>T c.(1219-1221)CTG>TTG p.L407L DCST2_uc009wpb.2_RNA NM_144622 NP_653223 Q5T1A1 DCST2_HUMAN DC-STAMP domain containing 2 407 Cytoplasmic (Potential). integral to membrane ovary(2)|central_nervous_system(1) 3 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) AAGGTCTCCAGAATGTAAAAA 0.547 NaN 0 0 0 1 0 35 102 ASH1L 55870 broad.mit.edu 37 1 155319120 155319120 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:155319120C>T uc009wqq.2 - 19 8047 c.7567G>A c.(7567-7569)GAG>AAG p.E2523K RAG1AP1_uc010pey.1_Intron|ASH1L_uc001fkt.2_Missense_Mutation_p.E2518K|MIR555_hsa-mir-555|MI0003561_5'Flank NM_018489 NP_060959 Q9NR48 ASH1L_HUMAN absent, small, or homeotic 1-like 2523 Bromo. cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 11 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) AAAAATACCTCAGCATTCCGA 0.378 NaN 0 0 0 1 0 15 44 SEMA4A 64218 broad.mit.edu 37 1 156146338 156146338 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:156146338G>A uc001fnl.2 + 15 1940 c.1836G>A c.(1834-1836)CTG>CTA p.L612L SEMA4A_uc009wrq.2_Silent_p.L612L|SEMA4A_uc001fnm.2_Silent_p.L612L|SEMA4A_uc001fnn.2_Silent_p.L480L|SEMA4A_uc001fno.2_Silent_p.L612L NM_022367 NP_071762 Q9H3S1 SEM4A_HUMAN semaphorin B precursor 612 Extracellular (Potential).|Ig-like C2-type. axon guidance integral to membrane|plasma membrane receptor activity ovary(1)|skin(1) 2 Hepatocellular(266;0.158) CCCTCTTGCTGATAGTGCAGG 0.557 NaN 0 0 0 1 0 30 76 SEMA4A 64218 broad.mit.edu 37 1 156146608 156146608 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:156146608C>T uc001fnl.2 + 15 2210 c.2106C>T c.(2104-2106)CTC>CTT p.L702L SEMA4A_uc009wrq.2_Silent_p.L702L|SEMA4A_uc001fnm.2_Silent_p.L702L|SEMA4A_uc001fnn.2_Silent_p.L570L|SEMA4A_uc001fno.2_Silent_p.L702L NM_022367 NP_071762 Q9H3S1 SEM4A_HUMAN semaphorin B precursor 702 Helical; (Potential). axon guidance integral to membrane|plasma membrane receptor activity ovary(1)|skin(1) 2 Hepatocellular(266;0.158) TCATCATCCTCGTGGCCTCCC 0.632 NaN 0 0 0 1 0 19 87 SMG5 23381 broad.mit.edu 37 1 156247731 156247731 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:156247731G>A uc001foc.3 - 3 431 c.282C>T c.(280-282)ATC>ATT p.I94I NM_015327 NP_056142 Q9UPR3 SMG5_HUMAN SMG5 homolog nonsense mediated mRNA decay 94 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|nucleus protein phosphatase 2A binding ovary(2)|skin(2)|pancreas(1) 5 Hepatocellular(266;0.158) TGTTAGTCTTGATAAGCTGGA 0.478 NaN 0 0 0 1 0 65 223 C1orf182 128229 broad.mit.edu 37 1 156316677 156316677 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:156316677G>A uc001foo.2 + 4 644 c.282G>A c.(280-282)GTG>GTA p.V94V C1orf182_uc009wry.2_Silent_p.V94V|C1orf182_uc001fop.3_Silent_p.V94V NM_144627 NP_653228 Q96A04 CA182_HUMAN SSTK-interacting protein 94 0 Hepatocellular(266;0.158) AGGCATCTGTGACACAACTGG 0.468 NaN 0 0 0 1 0 32 102 APOA1BP 128240 broad.mit.edu 37 1 156562243 156562243 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:156562243C>T uc001fph.2 + 3 417 c.378C>T c.(376-378)GTC>GTT p.V126V APOA1BP_uc001fpg.2_Silent_p.V126V|APOA1BP_uc001fpi.2_Silent_p.V126V|APOA1BP_uc001fpj.2_Silent_p.V43V|APOA1BP_uc001fpk.2_Silent_p.V23V|APOA1BP_uc010php.1_Silent_p.V23V NM_144772 NP_658985 Q8NCW5 AIBP_HUMAN apolipoprotein A-I binding protein precursor 126 YjeF N-terminal. extracellular region protein binding central_nervous_system(1) 1 all_hematologic(923;0.088)|Hepatocellular(266;0.158) ATGGTCTGGTCTGTGCTCGAC 0.582 NaN 0 0 0 1 0 34 122 APOA1BP 128240 broad.mit.edu 37 1 156562250 156562250 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:156562250C>G uc001fph.2 + 3 424 c.385C>G c.(385-387)CGA>GGA p.R129G APOA1BP_uc001fpg.2_Missense_Mutation_p.R129G|APOA1BP_uc001fpi.2_Missense_Mutation_p.R129G|APOA1BP_uc001fpj.2_Missense_Mutation_p.R46G|APOA1BP_uc001fpk.2_Missense_Mutation_p.R26G|APOA1BP_uc010php.1_Missense_Mutation_p.R26G NM_144772 NP_658985 Q8NCW5 AIBP_HUMAN apolipoprotein A-I binding protein precursor 129 YjeF N-terminal. extracellular region protein binding central_nervous_system(1) 1 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GGTCTGTGCTCGACACCTCAA 0.587 NaN 0 0 0 1 0 30 126 FCRL1 115350 broad.mit.edu 37 1 157776905 157776905 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:157776905G>A uc001frg.2 - 2 152 c.39C>T c.(37-39)CTC>CTT p.L13L FCRL1_uc001frh.2_Silent_p.L13L|FCRL1_uc001fri.2_Silent_p.L13L|FCRL1_uc001frj.2_RNA NM_052938 NP_443170 Q96LA6 FCRL1_HUMAN Fc receptor-like 1 isoform 1 precursor 13 integral to membrane|plasma membrane receptor activity skin(4)|ovary(3) 7 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) CAGGTTCACAGAGTGGAGCTG 0.478 NaN 0 0 0 1 0 15 45 KIRREL 55243 broad.mit.edu 37 1 158061274 158061274 + Nonsense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:158061274C>T uc001frn.3 + 11 1803 c.1399C>T c.(1399-1401)CAG>TAG p.Q467* KIRREL_uc010pib.1_Nonsense_Mutation_p.Q367*|KIRREL_uc009wsq.2_Nonsense_Mutation_p.Q303*|KIRREL_uc001fro.3_Nonsense_Mutation_p.Q281* NM_018240 NP_060710 Q96J84 KIRR1_HUMAN kin of IRRE like precursor 467 Ig-like C2-type 5.|Extracellular (Potential). integral to membrane ovary(1) 1 all_hematologic(112;0.0378) GGCCGACTTTCAGACTCACTA 0.592 NaN 0 0 0 1 0 39 113 SPTA1 6708 broad.mit.edu 37 1 158582706 158582706 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:158582706G>C uc001fst.1 - 51 7234 c.7035C>G c.(7033-7035)GAC>GAG p.D2345E NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 2345 EF-hand 2. 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) CTGACTCCTTGTCAATCAGGA 0.478 NaN 0 0 0 1 0 10 44 NCSTN 23385 broad.mit.edu 37 1 160323984 160323984 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:160323984C>T uc001fvx.2 + 11 1380 c.1256C>T c.(1255-1257)TCC>TTC p.S419F NCSTN_uc001fvy.2_Missense_Mutation_p.S399F|NCSTN_uc010pjf.1_Missense_Mutation_p.S281F|NCSTN_uc001fvz.2_Missense_Mutation_p.S199F|NCSTN_uc010pjg.1_Missense_Mutation_p.S161F NM_015331 NP_056146 Q92542 NICA_HUMAN nicastrin precursor 419 Extracellular (Potential). amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome protein binding ovary(1)|lung(1) 2 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CCAAATCAGTCCCAGCCTCTC 0.552 NaN 0 0 0 1 0 26 95 PFDN2 5202 broad.mit.edu 37 1 161071873 161071873 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:161071873C>G uc001fxu.2 - 3 303 c.253G>C c.(253-255)GAG>CAG p.E85Q NM_012394 NP_036526 Q9UHV9 PFD2_HUMAN prefoldin subunit 2 85 'de novo' posttranslational protein folding prefoldin complex unfolded protein binding 0 all_cancers(52;1.84e-19)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) GGCAGCACCTCTTTGACAGTT 0.403 NaN 0 0 0 1 0 19 49 PPOX 5498 broad.mit.edu 37 1 161137269 161137269 + Missense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:161137269G>T uc001fyj.2 + 4 621 c.331G>T c.(331-333)GGC>TGC p.G111C PPOX_uc001fyn.2_Intron|PPOX_uc001fyg.2_Missense_Mutation_p.G111C|PPOX_uc001fyl.2_Missense_Mutation_p.G77C|PPOX_uc001fym.2_RNA|PPOX_uc001fyk.2_5'UTR|PPOX_uc001fyh.2_5'UTR|PPOX_uc010pkg.1_5'UTR|PPOX_uc009wuc.1_5'UTR|PPOX_uc010pkh.1_Intron|PPOX_uc001fyi.2_5'UTR NM_001122764 NP_001116236 P50336 PPOX_HUMAN protoporphyrinogen oxidase 111 heme biosynthetic process intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity ovary(1) 1 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) CCTACCCACTGGCCTCAGGTA 0.502 NaN Porphyria_Variegata 1 0 0.000157383 1 0.000159646 8 44 ATF6 22926 broad.mit.edu 37 1 161753803 161753803 + Nonsense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:161753803C>T uc001gbr.2 + 4 338 c.271C>T c.(271-273)CAG>TAG p.Q91* ATF6_uc001gbq.1_Nonsense_Mutation_p.Q91* NM_007348 NP_031374 P18850 ATF6A_HUMAN activating transcription factor 6 91 Cytoplasmic (Potential).|Transcription activation. positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(2)|skin(1) 3 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.00953) GGCAGAACCTCAGCCACTTTC 0.398 NaN 0 0 0 1 0 24 110 NOS1AP 9722 broad.mit.edu 37 1 162337072 162337072 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:162337072G>C uc001gbv.2 + 10 1723 c.1336G>C c.(1336-1338)GAG>CAG p.E446Q NOS1AP_uc010pks.1_RNA|NOS1AP_uc001gbw.2_Missense_Mutation_p.E441Q|NOS1AP_uc009wut.1_Missense_Mutation_p.E151Q NM_014697 NP_055512 O75052 CAPON_HUMAN nitric oxide synthase 1 (neuronal) adaptor 446 regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity nitric-oxide synthase binding|PDZ domain binding lung(2)|upper_aerodigestive_tract(1) 3 all_hematologic(112;0.203) BRCA - Breast invasive adenocarcinoma(70;0.0537) AGCGCAGGGCGAGGCGCTCCT 0.667 NaN 0 0 0 1 0 17 56 UHMK1 127933 broad.mit.edu 37 1 162482610 162482610 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:162482610G>A uc001gcc.1 + 6 1157 c.1021G>A c.(1021-1023)GAA>AAA p.E341K UHMK1_uc001gcb.1_Missense_Mutation_p.E267K|UHMK1_uc009wuu.1_Missense_Mutation_p.E341K NM_175866 NP_787062 Q8TAS1 UHMK1_HUMAN kinase interacting stathmin 341 RRM. cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus axon|dendrite cytoplasm|neuronal RNA granule|nucleus protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding|RNA binding 0 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.126) AGAGGAATATGAAGGTTAGTG 0.328 NaN 0 0 0 1 0 35 81 PBX1 5087 broad.mit.edu 37 1 164769035 164769035 + Missense_Mutation SNP A A C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:164769035A>C uc001gct.2 + 4 868 c.610A>C c.(610-612)ATC>CTC p.I204L PBX1_uc010pku.1_Missense_Mutation_p.I204L|PBX1_uc010pkv.1_Missense_Mutation_p.I121L|PBX1_uc001gcs.2_Missense_Mutation_p.I204L|PBX1_uc010pkw.1_Missense_Mutation_p.I94L NM_002585 NP_002576 P40424 PBX1_HUMAN pre-B-cell leukemia homeobox 1 204 negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription factor binding EWSR1/PBX1(3) soft_tissue(3)|lung(1)|skin(1) 5 GGTCAGCATCATCCACCGCAA 0.587 NaN T TCF3|EWSR1 pre B-ALL|myoepithelioma 0 0 0 1 0 15 52 CD247 919 broad.mit.edu 37 1 167409970 167409970 + Silent SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:167409970G>T uc001gei.3 - 2 238 c.93C>A c.(91-93)CTC>CTA p.L31L CD247_uc001gej.3_Silent_p.L31L|CD247_uc001gek.2_Silent_p.L31L NM_198053 NP_932170 P20963 CD3Z_HUMAN T-cell receptor zeta chain isoform 1 precursor 31 Helical; (Potential). interspecies interaction between organisms|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytoplasm|integral to membrane protein homodimerization activity|transmembrane receptor activity 0 LUSC - Lung squamous cell carcinoma(543;0.236) GCAGGTAGCAGAGTTTGGGAT 0.547 NaN 1 0 1 1 1 8 31 F5 2153 broad.mit.edu 37 1 169528466 169528466 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:169528466C>G uc001ggg.1 - 5 800 c.655G>C c.(655-657)GAT>CAT p.D219H F5_uc010plr.1_RNA NM_000130 NP_000121 P12259 FA5_HUMAN coagulation factor V precursor 219 F5/8 type A 1.|Plastocyanin-like 2. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) TTGCTTTCATCAAACACAGCA 0.453 NaN 0 0 0 1 0 20 74 C1orf9 51430 broad.mit.edu 37 1 172560143 172560143 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:172560143G>C uc001giq.3 + 19 3161 c.2845G>C c.(2845-2847)GAA>CAA p.E949Q C1orf9_uc010pmm.1_Missense_Mutation_p.E949Q|C1orf9_uc009wwd.2_Missense_Mutation_p.E905Q|C1orf9_uc010pmn.1_Missense_Mutation_p.E578Q|C1orf9_uc010pmo.1_RNA NM_014283 NP_055098 Q9UBS9 OSPT_HUMAN chromosome 1 open reading frame 9 protein 949 Potential. multicellular organismal development|ossification integral to membrane|rough endoplasmic reticulum membrane ovary(2) 2 Breast(1374;0.212) Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544) ACAAATGGAAGAAATGCAAAA 0.318 NaN 0 0 0 1 0 13 48 ASTN1 460 broad.mit.edu 37 1 176998854 176998854 + Nonsense_Mutation SNP C C A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:176998854C>A uc001glc.2 - 5 1248 c.1036G>T c.(1036-1038)GAA>TAA p.E346* ASTN1_uc001glb.1_Nonsense_Mutation_p.E346*|ASTN1_uc001gld.1_Nonsense_Mutation_p.E346*|ASTN1_uc009wwx.1_Nonsense_Mutation_p.E346*|ASTN1_uc001gle.3_RNA|MIR488_hsa-mir-488|MI0003123_5'Flank NM_004319 NP_004310 O14525 ASTN1_HUMAN astrotactin isoform 1 346 cell migration|neuron cell-cell adhesion integral to membrane ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1) 15 GAATCCCCTTCAGGGTTCAAG 0.493 NaN 1 0 0.00829132 1 0.00836045 11 19 NPHS2 7827 broad.mit.edu 37 1 179526245 179526245 + Nonsense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:179526245G>A uc001gmq.3 - 5 740 c.655C>T c.(655-657)CAA>TAA p.Q219* NPHS2_uc009wxi.2_Intron NM_014625 NP_055440 Q9NP85 PODO_HUMAN podocin 219 Cytoplasmic (Potential). excretion integral to plasma membrane protein binding 0 ATAGTGGTTTGCACAAGGAAT 0.423 NaN 0 0 0 1 0 8 41 NPHS2 7827 broad.mit.edu 37 1 179526363 179526363 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:179526363G>A uc001gmq.3 - 5 622 c.537C>T c.(535-537)ATC>ATT p.I179I NPHS2_uc009wxi.2_Intron NM_014625 NP_055440 Q9NP85 PODO_HUMAN podocin 179 Cytoplasmic (Potential). excretion integral to plasma membrane protein binding 0 CTTTGGTCACGATCTAGGCAG 0.413 NaN 0 0 0 1 0 12 39 C1orf26 54823 broad.mit.edu 37 1 185143554 185143554 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:185143554C>T uc001grg.3 + 5 389 c.275C>T c.(274-276)TCA>TTA p.S92L C1orf26_uc001grh.3_Missense_Mutation_p.S92L NM_001105518 NP_001098988 Q5T5J6 SWT1_HUMAN hypothetical protein LOC54823 92 0 ATCGGTTCTTCATCCCAAAGA 0.313 NaN 0 0 0 1 0 3 17 TPR 7175 broad.mit.edu 37 1 186320521 186320521 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:186320521G>C uc001grv.2 - 20 2848 c.2551C>G c.(2551-2553)CTA>GTA p.L851V NM_003292 NP_003283 P12270 TPR_HUMAN nuclear pore complex-associated protein TPR 851 Potential. carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1) 7 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) TTCTTCTTTAGATGAGAGATC 0.378 NaN T NTRK1 papillary thyroid 0 0 0 1 0 13 48 ZNF281 23528 broad.mit.edu 37 1 200377314 200377314 + Nonsense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:200377314G>C uc001gve.2 - 2 1627 c.1520C>G c.(1519-1521)TCA>TGA p.S507* ZNF281_uc001gvf.1_Nonsense_Mutation_p.S507*|ZNF281_uc001gvg.1_Nonsense_Mutation_p.S471* NM_012482 NP_036614 Q9Y2X9 ZN281_HUMAN zinc finger protein 281 507 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(1)|breast(1) 2 ACTATTATTTGATACTATGCC 0.373 NaN 0 0 0 1 0 26 44 C1orf106 55765 broad.mit.edu 37 1 200880791 200880791 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:200880791C>T uc001gvo.2 + 9 1455 c.1425C>T c.(1423-1425)CCC>CCT p.P475P C1orf106_uc010ppm.1_Silent_p.P390P NM_018265 NP_060735 Q3KP66 CA106_HUMAN hypothetical protein LOC55765 isoform 1 475 skin(2)|ovary(1) 3 GCAGCAGCCCCGACATCTCCT 0.692 NaN 0 0 0 1 0 76 180 CACNA1S 779 broad.mit.edu 37 1 201017798 201017798 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:201017798C>T uc001gvv.2 - 36 4580 c.4353G>A c.(4351-4353)ATG>ATA p.M1451I NM_000069 NP_000060 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, 1451 Cytoplasmic (Potential). axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity ovary(3)|central_nervous_system(1)|skin(1) 5 Magnesium Sulfate(DB00653)|Verapamil(DB00661) GGGGCATGTTCATGCCCACCA 0.617 NaN 0 0 0 1 0 10 34 CACNA1S 779 broad.mit.edu 37 1 201019552 201019552 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:201019552G>C uc001gvv.2 - 34 4433 c.4206C>G c.(4204-4206)TTC>TTG p.F1402L NM_000069 NP_000060 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, 1402 Dihydropyridine binding (By similarity).|Cytoplasmic (Potential). axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity ovary(3)|central_nervous_system(1)|skin(1) 5 Magnesium Sulfate(DB00653)|Verapamil(DB00661) AGATGGCCTTGAACTCATCCA 0.547 NaN 0 0 0 1 0 25 52 CACNA1S 779 broad.mit.edu 37 1 201079390 201079390 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:201079390C>G uc001gvv.2 - 2 387 c.160G>C c.(160-162)GAG>CAG p.E54Q NM_000069 NP_000060 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, 54 I.|Helical; Name=S1 of repeat I; (Potential). axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity ovary(3)|central_nervous_system(1)|skin(1) 5 Magnesium Sulfate(DB00653)|Verapamil(DB00661) ATGATCGTCTCGAAGGGCCTG 0.577 NaN 0 0 0 1 0 26 70 GPR37L1 9283 broad.mit.edu 37 1 202092471 202092471 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:202092471C>G uc001gxj.2 + 1 443 c.380C>G c.(379-381)TCC>TGC p.S127C NM_004767 NP_004758 O60883 ETBR2_HUMAN G-protein coupled receptor 37 like 1 precursor 127 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding ovary(1)|central_nervous_system(1) 2 ACCGAGAGCTCCTACAGTGCC 0.597 NaN 0 0 0 1 0 22 67 BTG2 7832 broad.mit.edu 37 1 203274737 203274737 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 G A G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:203274737G>A uc001gzq.2 + 1 74 c.3G>A c.(1-3)ATG>ATA p.M1I FMOD_uc010pqi.1_Intron|uc009xao.1_5'Flank|uc001gzp.1_5'Flank|BTG2_uc009xap.1_RNA NM_006763 NP_006754 P78543 BTG2_HUMAN B-cell translocation gene 2 1 DNA repair|neuron projection development|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding p.M1I(1) ovary(1)|kidney(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(75;0.203) CGCGCGACATGAGCCACGGGA 0.697 NaN 0 0 0 1 0 3 10 ATP2B4 493 broad.mit.edu 37 1 203667470 203667470 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:203667470G>A uc001gzw.2 + 3 1263 c.379G>A c.(379-381)GAA>AAA p.E127K ATP2B4_uc001gzv.2_Missense_Mutation_p.E127K|ATP2B4_uc009xaq.2_Missense_Mutation_p.E127K NM_001684 NP_001675 P23634 AT2B4_HUMAN plasma membrane calcium ATPase 4 isoform 4b 127 Extracellular (Potential). ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding ovary(2)|skin(1) 3 all_cancers(21;0.071)|all_epithelial(62;0.228) BRCA - Breast invasive adenocarcinoma(75;0.109) CCCTGCTGGTGAAGAAAATGA 0.488 NaN 0 0 0 1 0 27 76 NUAK2 81788 broad.mit.edu 37 1 205280856 205280856 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:205280856G>A uc001hce.2 - 2 456 c.329C>T c.(328-330)CCT>CTT p.P110L NUAK2_uc009xbj.1_5'Flank NM_030952 NP_112214 Q9H093 NUAK2_HUMAN NUAK family, SNF1-like kinase, 2 110 Protein kinase. actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(3)|stomach(1)|breast(1) 5 Breast(84;0.186) BRCA - Breast invasive adenocarcinoma(75;0.117) AATGATGTGAGGGTGGTTGAG 0.473 NaN 0 0 0 1 0 12 49 MAPKAPK2 9261 broad.mit.edu 37 1 206904055 206904055 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:206904055G>A uc001hem.1 + 6 1000 c.714G>A c.(712-714)GAG>GAA p.E238E MAPKAPK2_uc001hel.1_Silent_p.E238E NM_032960 NP_116584 P49137 MAPK2_HUMAN mitogen-activated protein kinase-activated 238 Protein kinase. activation of MAPK activity|hormone biosynthetic process|innate immune response|leukotriene biosynthetic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|prostanoid metabolic process|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity 0 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.211) TGGGTCCAGAGAAGTATGACA 0.572 NaN 0 0 0 1 0 30 80 IL10 3586 broad.mit.edu 37 1 206944333 206944333 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:206944333C>T uc001hen.1 - 3 356 c.297G>A c.(295-297)GAG>GAA p.E99E NM_000572 NP_000563 P22301 IL10_HUMAN interleukin 10 precursor 99 anti-apoptosis|B cell differentiation|B cell proliferation|cytoplasmic sequestering of NF-kappaB|inflammatory response|leukocyte chemotaxis|negative regulation of B cell proliferation|negative regulation of cytokine secretion involved in immune response|negative regulation of interferon-alpha biosynthetic process|negative regulation of interleukin-6 production|negative regulation of membrane protein ectodomain proteolysis|negative regulation of MHC class II biosynthetic process|negative regulation of T cell proliferation|positive regulation of B cell apoptosis|positive regulation of cytokine secretion|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|receptor biosynthetic process|regulation of isotype switching|response to glucocorticoid stimulus|type 2 immune response extracellular space cytokine activity|growth factor activity|interleukin-10 receptor binding 0 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.211) GGTCTTGGTTCTCAGCTTGGG 0.547 NaN 0 0 0 1 0 39 110 CR2 1380 broad.mit.edu 37 1 207651346 207651346 + Nonsense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:207651346G>T uc001hfw.2 + 15 2936 c.2842G>T c.(2842-2844)GAA>TAA p.E948* CR2_uc001hfv.2_Nonsense_Mutation_p.E1007*|CR2_uc009xch.2_Nonsense_Mutation_p.E886* NM_001877 NP_001868 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) 948 Sushi 15.|Extracellular (Potential). complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1) 8 GTATATGCTGGAAGGCAGTCC 0.522 NaN 1 0 9.70103e-10 1 1.01257e-09 11 39 CR2 1380 broad.mit.edu 37 1 207651410 207651410 + Missense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:207651410G>T uc001hfw.2 + 15 3000 c.2906G>T c.(2905-2907)AGA>ATA p.R969I CR2_uc001hfv.2_Missense_Mutation_p.R1028I|CR2_uc009xch.2_Missense_Mutation_p.R907I NM_001877 NP_001868 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) 969 Sushi 15.|Extracellular (Potential). complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1) 8 GCGGTTTGCAGATCCCGTAAG 0.532 NaN 1 0 0.000157383 1 0.000159646 5 31 CD34 947 broad.mit.edu 37 1 208062850 208062850 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:208062850C>T uc001hgw.1 - 5 972 c.714G>A c.(712-714)GTG>GTA p.V238V CD34_uc001hgv.1_Silent_p.V80V|CD34_uc001hgx.1_Silent_p.V238V|CD34_uc010psj.1_Silent_p.V103V NM_001025109 NP_001020280 P28906 CD34_HUMAN CD34 antigen isoform a 238 Extracellular (Potential). cell-cell adhesion|leukocyte migration|regulation of immune response integral to membrane carbohydrate binding ovary(1) 1 ACTGAGGCCTCACCTCAGACT 0.612 NaN 0 0 0 1 0 11 37 LAMB3 3914 broad.mit.edu 37 1 209805953 209805953 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:209805953G>A uc001hhg.2 - 7 1187 c.797C>T c.(796-798)TCT>TTT p.S266F LAMB3_uc009xco.2_Missense_Mutation_p.S266F|LAMB3_uc001hhh.2_Missense_Mutation_p.S266F|LAMB3_uc010psl.1_RNA|LAMB3_uc009xcp.1_Missense_Mutation_p.S202F NM_001017402 NP_001017402 Q13751 LAMB3_HUMAN laminin, beta 3 precursor 266 Laminin EGF-like 1. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1) 6 OV - Ovarian serous cystadenocarcinoma(81;0.0519) GGGGCCTGCAGAGGCCCCAGG 0.652 NaN 0 0 0 1 0 24 53 SYT14 255928 broad.mit.edu 37 1 210273593 210273593 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:210273593G>C uc009xcv.2 + 6 1023 c.951G>C c.(949-951)CAG>CAC p.Q317H SYT14_uc001hhs.3_Missense_Mutation_p.Q362H|SYT14_uc001hht.3_Missense_Mutation_p.Q317H|SYT14_uc001hhu.3_Intron|SYT14_uc010psn.1_Missense_Mutation_p.Q362H|SYT14_uc010pso.1_Missense_Mutation_p.Q279H NM_153262 NP_694994 Q8NB59 SYT14_HUMAN synaptotagmin XIV isoform 4 317 Cytoplasmic (Potential).|C2 1. integral to membrane ovary(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.085) CCAGCATCCAGAGAGGACCAT 0.403 NaN 0 0 0 1 0 14 38 INTS7 25896 broad.mit.edu 37 1 212180677 212180677 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:212180677G>C uc001hiw.1 - 6 776 c.671C>G c.(670-672)TCC>TGC p.S224C INTS7_uc009xdb.1_Missense_Mutation_p.S224C|INTS7_uc001hix.1_Missense_Mutation_p.S100C|INTS7_uc001hiy.1_Missense_Mutation_p.S224C|INTS7_uc010pta.1_Missense_Mutation_p.S175C NM_015434 NP_056249 Q9NVH2 INT7_HUMAN integrator complex subunit 7 224 snRNA processing integrator complex protein binding 0 OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852) GGACGGATAGGATGTGACCAG 0.433 NaN 0 0 0 1 0 14 45 DTL 51514 broad.mit.edu 37 1 212274365 212274365 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:212274365G>A uc009xdc.2 + 14 2347 c.2033G>A c.(2032-2034)CGA>CAA p.R678Q DTL_uc010ptb.1_Missense_Mutation_p.R636Q|DTL_uc001hiz.3_Missense_Mutation_p.R407Q NM_016448 NP_057532 Q9NZJ0 DTL_HUMAN denticleless homolog 678 DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane protein binding 0 OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102) CCATCTCCACGAAGTCCGTCA 0.488 NaN 0 0 0 1 0 13 53 RPS6KC1 26750 broad.mit.edu 37 1 213414278 213414278 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:213414278G>A uc010ptr.1 + 11 1618 c.1459G>A c.(1459-1461)GAA>AAA p.E487K RPS6KC1_uc001hkd.2_Missense_Mutation_p.E475K|RPS6KC1_uc010pts.1_Missense_Mutation_p.E275K|RPS6KC1_uc010ptt.1_Missense_Mutation_p.E275K|RPS6KC1_uc010ptu.1_Missense_Mutation_p.E306K|RPS6KC1_uc010ptv.1_Missense_Mutation_p.E22K|RPS6KC1_uc001hke.2_Missense_Mutation_p.E306K NM_012424 NP_036556 Q96S38 KS6C1_HUMAN ribosomal protein S6 kinase, 52kDa, polypeptide 487 cell communication|signal transduction early endosome|membrane ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity lung(4)|ovary(3)|breast(1) 8 OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145) CAGCAACCAGGAAGATGATGG 0.413 NaN 0 0 0 1 0 20 71 GPATCH2 55105 broad.mit.edu 37 1 217784238 217784238 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:217784238G>A uc001hlf.1 - 4 1107 c.1011C>T c.(1009-1011)AGC>AGT p.S337S GPATCH2_uc001hlg.3_Silent_p.S337S NM_018040 NP_060510 Q9NW75 GPTC2_HUMAN G patch domain containing 2 337 intracellular nucleic acid binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872) GACCTCTTCTGCTTGGGTGTG 0.413 NaN 0 0 0 1 0 14 41 SLC30A10 55532 broad.mit.edu 37 1 220101335 220101335 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:220101335G>A uc001hlw.2 - 1 659 c.448C>T c.(448-450)CGC>TGC p.R150C SLC30A10_uc001hlu.1_Intron|SLC30A10_uc001hlx.2_5'UTR NM_018713 NP_061183 Q6XR72 ZNT10_HUMAN solute carrier family 30 (zinc transporter), 150 Cytoplasmic (Potential). zinc ion transport integral to membrane|plasma membrane cation transmembrane transporter activity 0 GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209) TGCAGGCGGCGACTGCGTCCC 0.746 NaN 0 0 0 1 0 4 5 MARK1 4139 broad.mit.edu 37 1 220752866 220752866 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:220752866C>T uc001hmn.3 + 2 819 c.222C>T c.(220-222)GTC>GTT p.V74V MARK1_uc001hml.2_Silent_p.V74V|MARK1_uc009xdw.2_Silent_p.V74V|MARK1_uc010pun.1_Silent_p.V74V|MARK1_uc001hmm.3_Silent_p.V74V NM_018650 NP_061120 Q9P0L2 MARK1_HUMAN MAP/microtubule affinity-regulating kinase 1 74 ATP (By similarity).|Protein kinase. intracellular protein kinase cascade cytoplasm|microtubule cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(4)|central_nervous_system(2)|skin(2)|stomach(1)|lung(1) 10 GBM - Glioblastoma multiforme(131;0.0407) TTGCCAAAGTCAAATTGGCAA 0.413 NaN 0 0 0 1 0 9 58 DISP1 84976 broad.mit.edu 37 1 223163986 223163986 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:223163986G>A uc001hnu.1 + 4 706 c.559G>A c.(559-561)GAC>AAC p.D187N NM_032890 NP_116279 Q96F81 DISP1_HUMAN dispatched A 187 diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity 0 GBM - Glioblastoma multiforme(131;0.102) CCTGATAGCCGACTGGCCGGT 0.498 NaN 0 0 0 1 0 40 110 SUSD4 55061 broad.mit.edu 37 1 223536710 223536710 + Nonsense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:223536710G>A uc001hnx.2 - 1 692 c.58C>T c.(58-60)CAG>TAG p.Q20* SUSD4_uc001hny.3_Nonsense_Mutation_p.Q20*|SUSD4_uc010puw.1_5'UTR|SUSD4_uc001hnz.2_Nonsense_Mutation_p.Q20*|SUSD4_uc010pux.1_Nonsense_Mutation_p.Q20* NM_017982 NP_060452 Q5VX71 SUSD4_HUMAN sushi domain containing 4 isoform a 20 integral to membrane 0 GBM - Glioblastoma multiforme(131;0.0611) GGTtgctgctgctgctgctgc 0.502 NaN 0 0 0 1 0 4 17 FBXO28 23219 broad.mit.edu 37 1 224345239 224345239 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:224345239G>C uc001hoh.2 + 5 939 c.898G>C c.(898-900)GAC>CAC p.D300H FBXO28_uc009xef.2_3'UTR|FBXO28_uc010pvc.1_Missense_Mutation_p.D95H NM_015176 NP_055991 Q9NVF7 FBX28_HUMAN F-box protein 28 isoform a 300 ovary(2)|kidney(2)|lung(1) 5 Breast(184;0.206) GBM - Glioblastoma multiforme(131;0.0363) TCAAGACCAGGACCAGAAACT 0.473 NaN 0 0 0 1 0 32 158 FBXO28 23219 broad.mit.edu 37 1 224345339 224345339 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:224345339G>C uc001hoh.2 + 5 1039 c.998G>C c.(997-999)GGA>GCA p.G333A FBXO28_uc009xef.2_3'UTR|FBXO28_uc010pvc.1_Missense_Mutation_p.G128A NM_015176 NP_055991 Q9NVF7 FBX28_HUMAN F-box protein 28 isoform a 333 ovary(2)|kidney(2)|lung(1) 5 Breast(184;0.206) GBM - Glioblastoma multiforme(131;0.0363) AGTGCTGTAGGAAATTCCTCA 0.478 NaN 0 0 0 1 0 28 113 CDC42BPA 8476 broad.mit.edu 37 1 227204633 227204633 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:227204633C>G uc001hqr.2 - 32 5572 c.4629G>C c.(4627-4629)CAG>CAC p.Q1543H CDC42BPA_uc001hqq.2_Missense_Mutation_p.Q842H|CDC42BPA_uc001hqs.2_Missense_Mutation_p.Q1462H|CDC42BPA_uc009xes.2_Missense_Mutation_p.Q1515H|CDC42BPA_uc010pvs.1_Missense_Mutation_p.Q1523H|CDC42BPA_uc001hqp.2_Missense_Mutation_p.Q699H|CDC42BPA_uc001hqt.2_Missense_Mutation_p.Q421H NM_003607 NP_003598 Q5VT25 MRCKA_HUMAN CDC42-binding protein kinase alpha isoform B 1556 actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1) 11 all_cancers(173;0.156)|Prostate(94;0.0792) TCTACCTCCTCTGCTGCATCC 0.398 NaN 0 0 0 1 0 15 48 OBSCN 84033 broad.mit.edu 37 1 228475825 228475825 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:228475825C>T uc009xez.1 + 37 9919 c.9875C>T c.(9874-9876)ACG>ATG p.T3292M OBSCN_uc001hsn.2_Missense_Mutation_p.T3292M|OBSCN_uc001hsq.1_Missense_Mutation_p.T548M NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 3292 Ig-like 33. 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) GCCACGGCCACGCTGCGGTGT 0.612 NaN 0 0 0 1 0 51 112 ACTA1 58 broad.mit.edu 37 1 229567842 229567842 + Missense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:229567842G>T uc001htm.2 - 5 812 c.707C>A c.(706-708)TCC>TAC p.S236Y NM_001100 NP_001091 P68133 ACTS_HUMAN actin, alpha 1, skeletal muscle 236 muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly actin filament|cytosol|stress fiber|striated muscle thin filament ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton 0 Breast(184;0.0858)|Ovarian(103;0.103) Prostate(94;0.167) Dornase Alfa(DB00003) TTCCAGGGAGGAGGAGGAGGC 0.642 NaN 1 0 1.3612e-06 1 1.40263e-06 14 42 URB2 9816 broad.mit.edu 37 1 229779297 229779297 + Nonsense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:229779297C>T uc001hts.1 + 5 3788 c.3652C>T c.(3652-3654)CAG>TAG p.Q1218* URB2_uc009xfd.1_Nonsense_Mutation_p.Q1218* NM_014777 NP_055592 Q14146 URB2_HUMAN URB2 ribosome biogenesis 2 homolog 1218 nucleolus central_nervous_system(2)|ovary(1) 3 AATTCCTGTTCAGGTCACTCA 0.448 NaN 0 0 0 1 0 19 72 GALNT2 2590 broad.mit.edu 37 1 230314024 230314024 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:230314024G>C uc010pwa.1 + 2 259 c.187G>C c.(187-189)GAG>CAG p.E63Q GALNT2_uc010pvy.1_Missense_Mutation_p.E25Q|GALNT2_uc010pvz.1_Intron NM_004481 NP_004472 Q10471 GALT2_HUMAN polypeptide N-acetylgalactosaminyltransferase 2 63 Lumenal (Potential). immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2) 2 Breast(184;0.193)|Ovarian(103;0.249) all_cancers(173;0.156)|Prostate(94;0.179) CAATGGAGAAGAGAAAGCACA 0.493 NaN 0 0 0 1 0 9 53 PCNXL2 80003 broad.mit.edu 37 1 233344284 233344284 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:233344284G>A uc001hvl.2 - 13 3078 c.2843C>T c.(2842-2844)TCA>TTA p.S948L PCNXL2_uc009xfu.2_RNA|PCNXL2_uc001hvp.1_RNA|PCNXL2_uc009xfv.1_RNA|PCNXL2_uc001hvq.1_Missense_Mutation_p.S247L NM_014801 NP_055616 A6NKB5 PCX2_HUMAN pecanex-like 2 948 integral to membrane central_nervous_system(1)|pancreas(1) 2 all_cancers(173;0.0347)|Prostate(94;0.137) GTCCCTAGCTGATTGTAGAAA 0.468 NaN 0 0 0 1 0 15 41 TOMM20 9804 broad.mit.edu 37 1 235277211 235277211 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:235277211C>T uc001hwl.2 - 4 491 c.265G>A c.(265-267)GGC>AGC p.G89S TOMM20_uc009xfx.1_Intron NM_014765 NP_055580 Q15388 TOM20_HUMAN translocase of outer mitochondrial membrane 20 89 Cytoplasmic (Potential). protein targeting to mitochondrion integral to membrane|mitochondrial outer membrane translocase complex P-P-bond-hydrolysis-driven protein transmembrane transporter activity|unfolded protein binding 0 Ovarian(103;0.0398) all_cancers(173;0.177)|Prostate(94;0.0166) OV - Ovarian serous cystadenocarcinoma(106;6.33e-05)|Epithelial(3;8.26e-05) TGGTCTACGCCCTTCTCATAT 0.418 NaN 0 0 0 1 0 24 55 RYR2 6262 broad.mit.edu 37 1 237619914 237619914 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:237619914C>T uc001hyl.1 + 16 1611 c.1491C>T c.(1489-1491)CTC>CTT p.L497L NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 497 Cytoplasmic (By similarity). cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TGATCAACCTCGTGCTTGAGT 0.413 NaN 0 0 0 1 0 12 57 RYR2 6262 broad.mit.edu 37 1 237872347 237872347 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:237872347G>A uc001hyl.1 + 69 10211 c.10091G>A c.(10090-10092)AGA>AAA p.R3364K RYR2_uc010pxz.1_Missense_Mutation_p.R319K NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 3364 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) ACACTGGCCAGAGATCTCTAT 0.463 NaN 0 0 0 1 0 10 22 SDCCAG8 10806 broad.mit.edu 37 1 243433447 243433447 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:243433447G>A uc001hzw.2 + 2 264 c.108G>A c.(106-108)CTG>CTA p.L36L SDCCAG8_uc010pyk.1_Intron|SDCCAG8_uc010pyl.1_Intron NM_006642 NP_006633 Q86SQ7 SDCG8_HUMAN serologically defined colon cancer antigen 8 36 establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation cell-cell junction|centriole|cytosol protein binding 0 all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218) all_cancers(173;0.00395) all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392) COAD - Colon adenocarcinoma(196;0.145) CATGTGCCCTGAAAGAAGGCG 0.493 NaN 0 0 0 1 0 8 35 AKT3 10000 broad.mit.edu 37 1 243727132 243727132 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:243727132C>G uc001iab.1 - 9 919 c.838G>C c.(838-840)GAC>CAC p.D280H AKT3_uc001hzz.1_Missense_Mutation_p.D280H NM_005465 NP_005456 Q9Y243 AKT3_HUMAN AKT3 kinase isoform 1 280 Protein kinase. signal transduction Golgi apparatus|nucleus|plasma membrane ATP binding|protein binding|protein serine/threonine kinase activity stomach(1)|lung(1)|breast(1)|central_nervous_system(1) 4 all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168) all_cancers(173;0.0274) all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196) CCATCTTTGTCCAGCATTAGA 0.348 NaN 0 0 0 1 0 16 51 KIF26B 55083 broad.mit.edu 37 1 245765916 245765916 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:245765916G>C uc001ibf.1 + 6 1828 c.1388G>C c.(1387-1389)CGA>CCA p.R463P KIF26B_uc010pyq.1_Missense_Mutation_p.R463P|KIF26B_uc001ibg.1_Missense_Mutation_p.R81P NM_018012 NP_060482 Q2KJY2 KI26B_HUMAN kinesin family member 26B 463 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(3) 3 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) ACCTTGGCTCGAGATACTTCA 0.488 NaN 0 0 0 1 0 10 25 OR2T8 343172 broad.mit.edu 37 1 248085113 248085113 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:248085113C>G uc010pzc.1 + 1 794 c.794C>G c.(793-795)TCC>TGC p.S265C NM_001005522 NP_001005522 A6NH00 OR2T8_HUMAN olfactory receptor, family 2, subfamily T, 265 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0211) OV - Ovarian serous cystadenocarcinoma(106;0.0319) TCCCACAGGTCCACTAACCAC 0.493 NaN 0 0 0 1 0 22 64 SH3BP5L 80851 broad.mit.edu 37 1 249106497 249106497 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:249106497G>A uc001iew.1 - 7 1336 c.784C>T c.(784-786)CGT>TGT p.R262C SH3BP5L_uc010pzp.1_Missense_Mutation_p.R155C|SH3BP5L_uc010pzq.1_Missense_Mutation_p.R230C|SH3BP5L_uc001iev.1_Missense_Mutation_p.R143C NM_030645 NP_085148 Q7L8J4 3BP5L_HUMAN SH3-binding domain protein 5-like 262 Potential. 0 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.19) OV - Ovarian serous cystadenocarcinoma(106;0.00805) TCCAGGTTACGAAGGGCCACG 0.682 NaN 0 0 0 1 0 15 55 LARP4B 23185 broad.mit.edu 37 10 860896 860896 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:860896G>A uc001ifs.1 - 15 1851 c.1810C>T c.(1810-1812)CAT>TAT p.H604Y NM_015155 NP_055970 Q92615 LAR4B_HUMAN La ribonucleoprotein domain family, member 4B 604 nucleotide binding|RNA binding ovary(2)|central_nervous_system(1) 3 TCGGGTAAATGAGCTGGGGAG 0.532 NaN 0 0 0 1 0 20 66 PITRM1 10531 broad.mit.edu 37 10 3206032 3206032 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:3206032G>A uc010qah.1 - 6 612 c.580C>T c.(580-582)CTT>TTT p.L194F PITRM1_uc001igr.1_Missense_Mutation_p.L226F|PITRM1_uc001igt.1_Missense_Mutation_p.L226F|PITRM1_uc001igu.1_Missense_Mutation_p.L218F|PITRM1_uc010qai.1_Missense_Mutation_p.L197F|PITRM1_uc001igw.1_Missense_Mutation_p.L226F|uc001igx.1_5'Flank E7ES23 E7ES23_HUMAN SubName: Full=cDNA FLJ54065, moderately similar to Mus musculus pitrilysin metallepetidase 1 (Pitrm1), mRNA; 194 proteolysis metalloendopeptidase activity|zinc ion binding pancreas(1) 1 TGGTCAGGAAGAAGTCTGTTC 0.438 NaN 0 0 0 1 0 25 70 NET1 10276 broad.mit.edu 37 10 5498204 5498204 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:5498204C>G uc001iia.2 + 11 1490 c.1352C>G c.(1351-1353)TCC>TGC p.S451C NET1_uc010qar.1_Missense_Mutation_p.S270C|NET1_uc001iib.2_Missense_Mutation_p.S397C|NET1_uc010qas.1_Missense_Mutation_p.S270C NM_001047160 NP_001040625 Q7Z628 ARHG8_HUMAN neuroepithelial cell transforming gene 1 isoform 451 PH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|nucleus Rho guanyl-nucleotide exchange factor activity breast(1) 1 ATGGGAGGCTCCTTTCGAGGA 0.458 NaN 0 0 0 1 0 13 47 C10orf18 54906 broad.mit.edu 37 10 5772507 5772507 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:5772507C>G uc001iij.2 + 11 1170 c.545C>G c.(544-546)TCT>TGT p.S182C C10orf18_uc001iik.2_5'Flank NM_017782 NP_060252 Q5VWN6 CJ018_HUMAN hypothetical protein LOC54906 182 ovary(1)|central_nervous_system(1) 2 CCTATTTTATCTACCCTTAAT 0.333 NaN 0 0 0 1 0 15 43 UPF2 26019 broad.mit.edu 37 10 12043687 12043687 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:12043687G>C uc001ila.2 - 5 2116 c.1642C>G c.(1642-1644)CTT>GTT p.L548V UPF2_uc001ilb.2_Missense_Mutation_p.L548V|UPF2_uc001ilc.2_Missense_Mutation_p.L548V|UPF2_uc009xiz.1_Missense_Mutation_p.L548V NM_080599 NP_542166 Q9HAU5 RENT2_HUMAN UPF2 regulator of nonsense transcripts homolog 548 Potential. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay exon-exon junction complex|perinuclear region of cytoplasm identical protein binding|RNA binding central_nervous_system(2)|ovary(1) 3 Renal(717;0.228) TGTTCATCAAGAAGTTTCTTT 0.333 NaN 0 0 0 1 0 3 26 BEND7 222389 broad.mit.edu 37 10 13494604 13494604 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:13494604C>G uc001imm.2 - 7 1259 c.962G>C c.(961-963)AGA>ACA p.R321T BEND7_uc001iml.2_RNA|BEND7_uc001imn.2_Missense_Mutation_p.R82T|BEND7_uc001imo.3_Missense_Mutation_p.R334T NM_152751 NP_689964 Q8N7W2 BEND7_HUMAN BEN domain containing 7 isoform 1 373 BEN. protein binding ovary(1)|breast(1) 2 TACCCAATCTCTTGGGCCAGG 0.363 NaN 0 0 0 1 0 21 70 VIM 7431 broad.mit.edu 37 10 17271570 17271570 + Missense_Mutation SNP G G A rs11545553 TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:17271570G>A uc001iou.2 + 2 562 c.149G>A c.(148-150)CGC>CAC p.R50H uc001iot.1_RNA|VIM_uc001iov.1_Missense_Mutation_p.R50H|VIM_uc001iow.1_RNA|VIM_uc001iox.1_Missense_Mutation_p.R50H|VIM_uc001ioy.1_Missense_Mutation_p.R50H|VIM_uc001ioz.1_RNA|VIM_uc001ipb.1_RNA|VIM_uc009xjv.1_Missense_Mutation_p.R50H|VIM_uc001ipc.1_Missense_Mutation_p.R50H NM_003380 NP_003371 P08670 VIME_HUMAN vimentin 50 Head. Missing (in Ref. 5; BAB71275). cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding cytosol|intermediate filament protein C-terminus binding|structural constituent of cytoskeleton large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 AGCACCAGCCGCAGCCTCTAC 0.756 NaN 0 0 0 1 0 9 22 ANKRD26 22852 broad.mit.edu 37 10 27294520 27294520 + Nonstop_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:27294520C>G uc001ith.2 - 34 5301 c.5129G>C c.(5128-5130)TGA>TCA p.*1710S ANKRD26_uc001itg.2_Nonstop_Mutation_p.*1397S|ANKRD26_uc009xku.1_Nonstop_Mutation_p.*1711S NM_014915 NP_055730 Q9UPS8 ANR26_HUMAN ankyrin repeat domain 26 1710 centrosome large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1) 4 TCTTATCTTTCAGATCATATA 0.279 NaN 0 0 0 1 0 17 55 YME1L1 10730 broad.mit.edu 37 10 27403470 27403470 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:27403470C>G uc001iti.2 - 19 2340 c.2158G>C c.(2158-2160)GAA>CAA p.E720Q YME1L1_uc001itj.2_Missense_Mutation_p.E663Q|YME1L1_uc010qdl.1_Missense_Mutation_p.E630Q|YME1L1_uc009xkv.2_RNA NM_139312 NP_647473 Q96TA2 YMEL1_HUMAN YME1-like 1 isoform 1 720 protein catabolic process|proteolysis membrane|mitochondrion ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity ovary(1) 1 ATTCTTATTTCTTGTTCGATG 0.328 NaN 0 0 0 1 0 10 39 MASTL 84930 broad.mit.edu 37 10 27458964 27458964 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:27458964G>A uc001itm.2 + 8 1715 c.1076G>A c.(1075-1077)GGT>GAT p.G359D MASTL_uc001itl.2_Missense_Mutation_p.G359D|MASTL_uc009xkw.1_Missense_Mutation_p.G359D|MASTL_uc009xkx.1_RNA NM_032844 NP_116233 Q96GX5 GWL_HUMAN microtubule associated serine/threonine 359 Protein kinase. cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus centrosome|cleavage furrow|nucleus ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity stomach(1)|ovary(1)|lung(1) 3 GAGACGAAAGGTTTCAATAAA 0.433 NaN 0 0 0 1 0 18 73 MKX 283078 broad.mit.edu 37 10 28032180 28032180 + Silent SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:28032180G>C uc001ity.3 - 2 390 c.165C>G c.(163-165)CTC>CTG p.L55L MKX_uc001itx.3_Silent_p.L55L NM_173576 NP_775847 Q8IYA7 MKX_HUMAN mohawk homeobox 55 muscle organ development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 GTCTCAGGCCGAGGTTGTCCT 0.746 NaN 0 0 0 1 0 4 22 SVIL 6840 broad.mit.edu 37 10 29754631 29754631 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:29754631G>A uc001iut.1 - 34 6779 c.6026C>T c.(6025-6027)TCC>TTC p.S2009F LOC387647_uc001iuo.1_Intron|LOC387647_uc001iup.2_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Missense_Mutation_p.S923F|SVIL_uc001iuu.1_Missense_Mutation_p.S1583F NM_021738 NP_068506 O95425 SVIL_HUMAN supervillin isoform 2 2009 cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding ovary(5)|upper_aerodigestive_tract(1) 6 Breast(68;0.103) ATCCCCAGAGGAGCTGCTGAG 0.483 NaN 0 0 0 1 0 6 44 EPC1 80314 broad.mit.edu 37 10 32575725 32575725 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:32575725C>T uc001iwg.1 - 9 1558 c.1288G>A c.(1288-1290)GAT>AAT p.D430N EPC1_uc001iwi.3_Missense_Mutation_p.D380N|EPC1_uc009xlt.2_Missense_Mutation_p.D380N|EPC1_uc001iwh.1_Missense_Mutation_p.D430N NM_025209 NP_079485 Q9H2F5 EPC1_HUMAN enhancer of polycomb 1 430 histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex ovary(3)|central_nervous_system(1) 4 Prostate(175;0.0199) AATCCTCCATCTTTAGGACTA 0.418 NaN 0 0 0 1 0 9 37 RET 5979 broad.mit.edu 37 10 43615571 43615571 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:43615571G>A uc001jal.2 + 15 2840 c.2650G>A c.(2650-2652)GAG>AAG p.E884K RET_uc001jak.1_Missense_Mutation_p.E884K|RET_uc010qez.1_Missense_Mutation_p.E630K NM_020975 NP_066124 P07949 RET_HUMAN ret proto-oncogene isoform a 884 Protein kinase.|Cytoplasmic (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 p.E884K(1) 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) CCTGGTAGCTGAGGGGCGGAA 0.562 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 0 0 0 1 0 12 35 C10orf128 170371 broad.mit.edu 37 10 50374939 50374939 + Silent SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:50374939C>G uc001jhn.3 - 3 239 c.213G>C c.(211-213)CTG>CTC p.L71L C10orf128_uc001jhl.3_RNA|C10orf128_uc001jhm.3_Silent_p.L71L|C10orf128_uc010qgo.1_Silent_p.L71L|C10orf128_uc001jho.3_Silent_p.L71L NM_001010863 NP_001010863 Q5T292 CJ128_HUMAN hypothetical protein LOC170371 precursor 71 Cytoplasmic (Potential). integral to membrane lung(1) 1 GCGTGCTTTTCAGGTCGGAAG 0.612 NaN 0 0 0 1 0 28 80 ERCC6 2074 broad.mit.edu 37 10 50678885 50678885 + Nonsense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:50678885G>A uc001jhs.3 - 18 3275 c.3121C>T c.(3121-3123)CAA>TAA p.Q1041* ERCC6_uc009xod.2_Nonsense_Mutation_p.Q201*|ERCC6_uc010qgr.1_Nonsense_Mutation_p.Q411*|ERCC6_uc001jhr.3_Nonsense_Mutation_p.Q409* NM_000124 NP_000115 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent 1041 Nuclear localization signal (Potential). base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1) 16 AAGGCTGGTTGAATCCTTCTT 0.393 NaN Direct_reversal_of_damage|NER 0 0 0 1 0 24 89 CHAT 1103 broad.mit.edu 37 10 50857645 50857645 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:50857645C>G uc001jhz.2 + 10 1627 c.1474C>G c.(1474-1476)CAA>GAA p.Q492E CHAT_uc001jhv.1_Missense_Mutation_p.Q374E|CHAT_uc001jhx.1_Missense_Mutation_p.Q374E|CHAT_uc001jhy.1_Missense_Mutation_p.Q374E|CHAT_uc001jia.2_Missense_Mutation_p.Q374E|CHAT_uc010qgs.1_Missense_Mutation_p.Q374E NM_020549 NP_065574 P28329 CLAT_HUMAN choline acetyltransferase isoform 2 492 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity central_nervous_system(3) 3 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) CCCGGAAATTCAAGGCCACTT 0.617 NaN 0 0 0 1 0 22 98 AGAP6 414189 broad.mit.edu 37 10 51768909 51768909 + Nonsense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:51768909G>T uc001jix.3 + 8 1422 c.1024G>T c.(1024-1026)GGA>TGA p.G342* NM_001077665 NP_001071133 Q5VW22 AGAP6_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH 342 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding skin(1) 1 CAAAGTCCCAGGAAAGTGGCC 0.463 NaN 1 0 7.57603e-17 1 8.02642e-17 35 141 AGAP6 414189 broad.mit.edu 37 10 51769497 51769497 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:51769497G>A uc001jix.3 + 8 2010 c.1612G>A c.(1612-1614)GAC>AAC p.D538N NM_001077665 NP_001071133 Q5VW22 AGAP6_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH 538 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding skin(1) 1 TATTGTCAATGACCTAGCCAA 0.537 NaN 0 0 0 1 0 63 192 CSTF2T 23283 broad.mit.edu 37 10 53459127 53459127 + Missense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:53459127G>T uc001jjp.2 - 1 229 c.183C>A c.(181-183)TTC>TTA p.F61L PRKG1_uc001jjm.2_Intron|PRKG1_uc001jjn.2_Intron|PRKG1_uc001jjo.2_Intron NM_015235 NP_056050 Q9H0L4 CSTFT_HUMAN cleavage stimulation factor, 3' pre-RNA, subunit 61 RRM. mRNA processing nucleus nucleotide binding|RNA binding ovary(1) 1 COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122) GGTATTCGCAGAAGCCATAGC 0.547 NaN 1 0 6.23363e-37 1 6.6668e-37 51 189 ANK3 288 broad.mit.edu 37 10 61815494 61815494 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:61815494C>T uc001jky.2 - 42 13179 c.12987G>A c.(12985-12987)ATG>ATA p.M4329I ANK3_uc001jkw.2_Missense_Mutation_p.M953I|ANK3_uc009xpa.2_Missense_Mutation_p.M953I|ANK3_uc001jkx.2_Missense_Mutation_p.M997I|ANK3_uc010qih.1_Missense_Mutation_p.M1820I|ANK3_uc001jkz.3_Missense_Mutation_p.M1813I|ANK3_uc001jkv.2_Missense_Mutation_p.M352I NM_020987 NP_066267 Q12955 ANK3_HUMAN ankyrin 3 isoform 1 4329 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2) 19 AAGTCCTACTCATCTTTTTCA 0.473 NaN 0 0 0 1 0 79 216 JMJD1C 221037 broad.mit.edu 37 10 64952854 64952854 + Nonsense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:64952854G>A uc001jmn.2 - 16 6220 c.5920C>T c.(5920-5922)CAG>TAG p.Q1974* JMJD1C_uc001jml.2_Nonsense_Mutation_p.Q1737*|JMJD1C_uc001jmm.2_Nonsense_Mutation_p.Q1686*|JMJD1C_uc010qiq.1_Nonsense_Mutation_p.Q1792*|JMJD1C_uc009xpi.2_Nonsense_Mutation_p.Q1792*|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc001jmo.2_5'Flank|JMJD1C_uc009xpk.1_Nonsense_Mutation_p.Q872* NM_032776 NP_116165 Q15652 JHD2C_HUMAN jumonji domain containing 1C isoform a 1974 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding ovary(4)|breast(1)|central_nervous_system(1) 6 Prostate(12;0.0119)|all_hematologic(501;0.191) TTTTGCTGCTGAGACTCAGGC 0.393 NaN 0 0 0 1 0 19 59 MYPN 84665 broad.mit.edu 37 10 69902716 69902716 + Nonsense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:69902716G>T uc001jnm.3 + 4 1107 c.922G>T c.(922-924)GAG>TAG p.E308* MYPN_uc001jnl.1_Nonsense_Mutation_p.E308*|MYPN_uc001jnn.3_Nonsense_Mutation_p.E33*|MYPN_uc001jno.3_Nonsense_Mutation_p.E308*|MYPN_uc001jnp.1_Nonsense_Mutation_p.E308*|MYPN_uc009xps.2_Nonsense_Mutation_p.E308*|MYPN_uc009xpt.2_Nonsense_Mutation_p.E308*|MYPN_uc010qit.1_Nonsense_Mutation_p.E14*|MYPN_uc010qiu.1_RNA NM_032578 NP_115967 Q86TC9 MYPN_HUMAN myopalladin 308 Interaction with CARP.|Ig-like 1. nucleus|sarcomere actin binding ovary(3)|skin(2) 5 TGAAGGCAAGGAGCTTGAAAA 0.453 NaN 1 0 2.23348e-06 1 2.29586e-06 14 60 ATOH7 220202 broad.mit.edu 37 10 69991290 69991290 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:69991290C>T uc001jnq.2 - 1 566 c.145G>A c.(145-147)GAG>AAG p.E49K NM_145178 NP_660161 Q8N100 ATOH7_HUMAN atonal homolog 7 49 Basic motif. cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding 0 CGGCGGCGCTCGCGCGCGTTG 0.736 NaN 0 0 0 1 0 7 22 HKDC1 80201 broad.mit.edu 37 10 71008329 71008329 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:71008329G>A uc001jpf.3 + 10 1548 c.1415G>A c.(1414-1416)AGG>AAG p.R472K HKDC1_uc010qje.1_Missense_Mutation_p.R335K NM_025130 NP_079406 Q2TB90 HKDC1_HUMAN hexokinase domain containing 1 472 glycolysis mitochondrion|nucleus ATP binding|hexokinase activity ovary(4)|skin(1) 5 CAGATCGACAGGGTGCTGGCT 0.652 NaN 0 0 0 1 0 23 52 CDH23 64072 broad.mit.edu 37 10 73437306 73437306 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:73437306G>A uc001jrx.3 + 15 1985 c.1608G>A c.(1606-1608)CGG>CGA p.R536R CDH23_uc001jry.2_Silent_p.R152R|CDH23_uc001jrz.2_Silent_p.R152R NM_022124 NP_071407 Q9H251 CAD23_HUMAN cadherin-like 23 isoform 1 precursor 536 Cadherin 5.|Extracellular (Potential). calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding central_nervous_system(5)|large_intestine(4)|ovary(2) 11 TCATTGCCCGGGACGGGGGCG 0.602 NaN 0 0 0 1 0 8 18 NDST2 8509 broad.mit.edu 37 10 75567556 75567556 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:75567556G>A uc001jvk.2 - 3 1395 c.591C>T c.(589-591)CTC>CTT p.L197L NDST2_uc010qks.1_5'Flank|NDST2_uc010qkt.1_Silent_p.L74L|NDST2_uc009xro.2_5'Flank|NDST2_uc010qku.1_Silent_p.L74L NM_003635 NP_003626 P52849 NDST2_HUMAN heparan glucosaminyl 197 Lumenal (Potential).|Heparan sulfate N-deacetylase 2. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity ovary(1) 1 Prostate(51;0.0112) GGTAGTCCCGGAGCCCCAAGT 0.577 NaN 0 0 0 1 0 17 63 ZNF503 84858 broad.mit.edu 37 10 77158843 77158843 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:77158843C>T uc001jxg.2 - 2 1941 c.1605G>A c.(1603-1605)CTG>CTA p.L535L C10orf41_uc010qlf.1_5'Flank NM_032772 NP_116161 Q96F45 ZN503_HUMAN zinc finger protein 503 535 C2H2-type. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding ovary(1) 1 all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088) AGTGGCTCAGCAGCTCTTCGG 0.652 NaN 0 0 0 1 0 17 53 MMRN2 79812 broad.mit.edu 37 10 88704122 88704122 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:88704122G>A uc001kea.2 - 5 679 c.552C>T c.(550-552)CTC>CTT p.L184L MMRN2_uc010qmn.1_Intron|MMRN2_uc009xtb.2_Silent_p.L141L NM_024756 NP_079032 Q9H8L6 MMRN2_HUMAN multimerin 2 precursor 184 Potential. extracellular space large_intestine(1) 1 CATCATTCTGGAGATCTCCCA 0.532 NaN 0 0 0 1 0 52 136 GLUD1 2746 broad.mit.edu 37 10 88822464 88822464 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:88822464C>T uc001keh.2 - 6 967 c.870G>A c.(868-870)ATG>ATA p.M290I GLUD1_uc001keg.2_Missense_Mutation_p.M123I|GLUD1_uc010qmp.1_Missense_Mutation_p.M157I NM_005271 NP_005262 P00367 DHE3_HUMAN glutamate dehydrogenase 1 precursor 290 glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion mitochondrial matrix ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding 0 L-Glutamic Acid(DB00142)|NADH(DB00157) CTAAAATGCTCATGTAAGAAG 0.388 NaN 0 0 0 1 0 13 27 GLUD1 2746 broad.mit.edu 37 10 88822583 88822583 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:88822583C>T uc001keh.2 - 6 848 c.751G>A c.(751-753)GCA>ACA p.A251T GLUD1_uc001keg.2_Missense_Mutation_p.A84T|GLUD1_uc010qmp.1_Missense_Mutation_p.A118T NM_005271 NP_005262 P00367 DHE3_HUMAN glutamate dehydrogenase 1 precursor 251 glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion mitochondrial matrix ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding 0 L-Glutamic Acid(DB00142)|NADH(DB00157) CAGGCGTGTGCATTAATATCC 0.418 NaN 0 0 0 1 0 7 25 PTEN 5728 broad.mit.edu 37 10 89725197 89725197 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 G A G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:89725197G>A uc001kfb.2 + 10 2211 c.1180G>A c.(1180-1182)GAA>AAA p.E394K NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 394 activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.R55fs*1(4)|p.Y27fs*1(2)|p.N212fs*1(2)|p.G165_*404del(1) endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1) 2334 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) ACCTTTTGATGAAGATCAGCA 0.328 31 D|Mis|N|F|S glioma| prostate|endometrial harmartoma|glioma| prostate|endometrial Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 0 0 0 1 0 10 19 KIF20B 9585 broad.mit.edu 37 10 91528126 91528126 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:91528126C>T uc001kgs.1 + 30 5141 c.5069C>T c.(5068-5070)TCT>TTT p.S1690F KIF20B_uc001kgr.1_Missense_Mutation_p.S1650F|KIF20B_uc001kgt.1_Missense_Mutation_p.S901F|KIF20B_uc009xtw.1_RNA NM_016195 NP_057279 Q96Q89 KI20B_HUMAN M-phase phosphoprotein 1 1690 Interaction with PIN1. cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis centrosome|microtubule|nucleolus|nucleoplasm|spindle ATP binding|ATPase activity|microtubule motor activity|WW domain binding ovary(1)|pancreas(1)|skin(1) 3 GATAGAAATTCTTCTGTCAAA 0.294 NaN 0 0 0 1 0 15 30 CC2D2B 387707 broad.mit.edu 37 10 97769626 97769626 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:97769626G>C uc001kll.2 + 3 265 c.66G>C c.(64-66)AAG>AAC p.K22N uc001klg.1_Intron|uc001klj.1_Intron|CC2D2B_uc001klk.2_RNA|CC2D2B_uc010qop.1_Missense_Mutation_p.K22N NM_001001732 NP_001001732 Q6DHV5 C2D2B_HUMAN coiled-coil and C2 domain containing 2B isoform 22 ovary(1) 1 Colorectal(252;0.158) Epithelial(162;7.08e-08)|all cancers(201;2.71e-06) ATATAAGAAAGAATTGGCTTG 0.338 NaN 0 0 0 1 0 11 36 DNTT 1791 broad.mit.edu 37 10 98087257 98087257 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:98087257G>A uc001kmf.2 + 7 1077 c.907G>A c.(907-909)GTG>ATG p.V303M DNTT_uc001kmg.2_Missense_Mutation_p.V303M NM_004088 NP_004079 P04053 TDT_HUMAN terminal deoxynucleotidyltransferase isoform 1 303 Mediates interaction with DNTTIP2. DNA modification nucleus DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding ovary(1) 1 Colorectal(252;0.0815)|all_hematologic(284;0.224) Epithelial(162;7.97e-08)|all cancers(201;1.89e-06) TGTCAGCTGTGTGACCAGGGC 0.517 NaN 0 0 0 1 0 73 188 TLL2 7093 broad.mit.edu 37 10 98145844 98145844 + Nonsense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:98145844G>A uc001kml.1 - 15 2207 c.1981C>T c.(1981-1983)CAG>TAG p.Q661* NM_012465 NP_036597 Q9Y6L7 TLL2_HUMAN tolloid-like 2 precursor 661 CUB 3. cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) ACTTCAAACTGAAGGGAGATC 0.522 NaN 0 0 0 1 0 23 73 C10orf12 26148 broad.mit.edu 37 10 98744637 98744637 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:98744637G>C uc001kmv.2 + 1 3597 c.3490G>C c.(3490-3492)GAA>CAA p.E1164Q NM_015652 NP_056467 Q8N655 CJ012_HUMAN hypothetical protein LOC26148 1164 skin(2) 2 Colorectal(252;0.172) Epithelial(162;6.35e-09)|all cancers(201;3.21e-07) CTCCAGGAAAGAAAAAGAGAA 0.493 NaN 0 0 0 1 0 23 58 RRP12 23223 broad.mit.edu 37 10 99123623 99123623 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:99123623C>T uc001knf.2 - 30 3694 c.3555G>A c.(3553-3555)GTG>GTA p.V1185V RRP12_uc001kne.2_Silent_p.V200V|RRP12_uc009xvl.2_Silent_p.V302V|RRP12_uc009xvm.2_Silent_p.V903V|RRP12_uc010qou.1_Silent_p.V1124V|RRP12_uc009xvn.2_Silent_p.V1085V NM_015179 NP_055994 Q5JTH9 RRP12_HUMAN ribosomal RNA processing 12 homolog isoform 1 1185 integral to membrane|nuclear membrane|nucleolus protein binding ovary(2)|central_nervous_system(1) 3 Colorectal(252;0.162) Epithelial(162;2.72e-09)|all cancers(201;1.76e-07) TCCTGATGATCACATCTTCCA 0.542 NaN 0 0 0 1 0 44 173 C10orf28 27291 broad.mit.edu 37 10 99994257 99994257 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:99994257C>G uc001kow.3 + 6 2311 c.2016C>G c.(2014-2016)TTC>TTG p.F672L C10orf28_uc001kox.3_Missense_Mutation_p.F686L|C10orf28_uc001koy.3_Missense_Mutation_p.F672L|C10orf28_uc009xvx.2_Missense_Mutation_p.F672L|C10orf28_uc009xvy.2_Missense_Mutation_p.F78L|C10orf28_uc001koz.3_RNA NM_014472 NP_055287 Q4KMY3 Q4KMY3_HUMAN growth inhibition and differentiation related 672 nucleotide binding large_intestine(1)|skin(1) 2 Colorectal(252;0.234) Epithelial(162;7.18e-11)|all cancers(201;8.75e-09) TAGGAGTATTCTCCAGTCCAA 0.323 NaN 0 0 0 1 0 15 44 DNMBP 23268 broad.mit.edu 37 10 101639649 101639649 + Silent SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:101639649G>T uc001kqj.2 - 16 4559 c.4467C>A c.(4465-4467)CTC>CTA p.L1489L DNMBP_uc010qpl.1_Silent_p.L425L|DNMBP_uc001kqg.2_Silent_p.L777L|DNMBP_uc001kqh.2_Silent_p.L1121L NM_015221 NP_056036 Q6XZF7 DNMBP_HUMAN dynamin binding protein 1489 intracellular signal transduction|regulation of Rho protein signal transduction cell junction|cytoskeleton|Golgi stack|synapse protein binding|Rho guanyl-nucleotide exchange factor activity ovary(5)|skin(1) 6 Colorectal(252;0.234) Epithelial(162;2.94e-10)|all cancers(201;3.15e-08) ATCCTTTGACGAGGTCTTGAC 0.547 NaN 1 0 1.08312e-15 1 1.14393e-15 32 101 FBXW4 6468 broad.mit.edu 37 10 103372196 103372196 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:103372196G>A uc001kto.2 - 7 1221 c.875C>T c.(874-876)CCA>CTA p.P292L NM_022039 NP_071322 P57775 FBXW4_HUMAN F-box and WD repeat domain containing 4 292 WD 3. ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway ubiquitin ligase complex skin(1) 1 Colorectal(252;0.123) Epithelial(162;4.35e-08)|all cancers(201;1.92e-06) CCCAGCCCCTGGGGGAAAGTC 0.582 NaN 0 0 0 1 0 33 127 C10orf76 79591 broad.mit.edu 37 10 103607320 103607320 + Nonsense_Mutation SNP C C A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:103607320C>A uc009xwy.1 - 26 2137 c.2035G>T c.(2035-2037)GAA>TAA p.E679* C10orf76_uc009xwx.1_RNA NM_024541 NP_078817 Q5T2E6 CJ076_HUMAN hypothetical protein LOC79591 679 integral to membrane 0 Colorectal(252;0.123) Epithelial(162;2.41e-08)|all cancers(201;6.41e-07) AGCAGGACTTCTTGGCTGAGT 0.592 NaN 1 0 1.06801e-11 1 1.11821e-11 25 83 INA 9118 broad.mit.edu 37 10 105037875 105037875 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:105037875G>A uc001kws.2 + 1 956 c.907G>A c.(907-909)GAG>AAG p.E303K uc001kwr.2_5'Flank|INA_uc009xxj.2_Missense_Mutation_p.E303K NM_032727 NP_116116 Q16352 AINX_HUMAN internexin neuronal intermediate filament 303 Coil 2.|Rod. cell differentiation|nervous system development neurofilament structural constituent of cytoskeleton ovary(1)|breast(1) 2 Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198) GCGCAGCACCGAGGCCATCCG 0.657 NaN 0 0 0 1 0 17 48 SLK 9748 broad.mit.edu 37 10 105762646 105762646 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:105762646G>C uc001kxo.1 + 9 1744 c.1710G>C c.(1708-1710)CAG>CAC p.Q570H SLK_uc001kxp.1_Missense_Mutation_p.Q570H NM_014720 NP_055535 Q9H2G2 SLK_HUMAN serine/threonine kinase 2 570 Glu-rich. apoptosis|nucleotide-excision repair cytoplasm|plasma membrane ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity ovary(2)|stomach(2)|skin(2)|lung(1)|kidney(1) 8 Colorectal(252;0.178) Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) AGGATACGCAGAGTAATGATG 0.443 NaN 0 0 0 1 0 11 48 C10orf79 80217 broad.mit.edu 37 10 105948061 105948061 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:105948061C>T uc001kxw.2 - 13 1770 c.1654G>A c.(1654-1656)GAG>AAG p.E552K C10orf79_uc009xxq.2_5'Flank|C10orf79_uc001kxx.3_Missense_Mutation_p.E553K NM_025145 NP_079421 Q8NDM7 WDR96_HUMAN hypothetical protein LOC80217 552 0 Colorectal(252;0.178) Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194) GTGAACATCTCCAACCTGCTT 0.438 NaN 0 0 0 1 0 18 48 SORCS1 114815 broad.mit.edu 37 10 108378015 108378015 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:108378015C>T uc001kym.2 - 21 2820 c.2812G>A c.(2812-2814)GAG>AAG p.E938K SORCS1_uc001kyl.2_Missense_Mutation_p.E938K|SORCS1_uc009xxs.2_Missense_Mutation_p.E938K|SORCS1_uc001kyn.1_Missense_Mutation_p.E938K|SORCS1_uc001kyo.2_Missense_Mutation_p.E938K NM_052918 NP_443150 Q8WY21 SORC1_HUMAN SORCS receptor 1 isoform a 938 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) ATGCTTCCCTCCAAGGTGATC 0.463 NaN 0 0 0 1 0 15 51 SMC3 9126 broad.mit.edu 37 10 112361525 112361525 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:112361525G>A uc001kze.2 + 24 2901 c.2775G>A c.(2773-2775)ATG>ATA p.M925I NM_005445 NP_005436 Q9UQE7 SMC3_HUMAN structural maintenance of chromosomes 3 925 cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(234;0.0848)|Lung NSC(174;0.238) Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127) TGGAAAAGATGACAAATCGGC 0.378 NaN 0 0 0 1 0 24 60 PNLIPRP1 5407 broad.mit.edu 37 10 118354358 118354358 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:118354358G>C uc001lco.1 + 5 465 c.447G>C c.(445-447)CAG>CAC p.Q149H PNLIPRP1_uc001lcp.2_Missense_Mutation_p.Q149H|PNLIPRP1_uc009xys.1_RNA NM_006229 NP_006220 P54315 LIPR1_HUMAN pancreatic lipase-related protein 1 precursor 149 lipid metabolic process calcium ion binding|triglyceride lipase activity ovary(1)|breast(1) 2 all cancers(201;0.0161) AGGTGGCCCAGATGCTCGACA 0.587 NaN 0 0 0 1 0 11 49 KIAA1598 57698 broad.mit.edu 37 10 118704476 118704476 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:118704476C>T uc009xyw.2 - 8 1168 c.670G>A c.(670-672)GAG>AAG p.E224K KIAA1598_uc001lcz.3_Missense_Mutation_p.E224K|KIAA1598_uc010qso.1_Missense_Mutation_p.E164K|KIAA1598_uc010qsp.1_Missense_Mutation_p.E224K|KIAA1598_uc010qsq.1_Missense_Mutation_p.E164K|KIAA1598_uc001lcy.3_Missense_Mutation_p.E194K NM_001127211 NP_001120683 A0MZ66 SHOT1_HUMAN shootin1 isoform a 224 Potential. axon guidance axon 0 all cancers(201;0.00494) AGGTCCTTCTCCAGCTCCAGG 0.318 NaN 0 0 0 1 0 51 199 PDZD8 118987 broad.mit.edu 37 10 119044215 119044215 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:119044215G>C uc001lde.1 - 5 2228 c.2029C>G c.(2029-2031)CAA>GAA p.Q677E NM_173791 NP_776152 Q8NEN9 PDZD8_HUMAN PDZ domain containing 8 677 intracellular signal transduction metal ion binding 0 Colorectal(252;0.19) all cancers(201;0.0121) TCCCATGTTTGACGGTCGTCC 0.433 NaN 0 0 0 1 0 14 63 C10orf88 80007 broad.mit.edu 37 10 124697599 124697599 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:124697599G>A uc001lgw.2 - 5 950 c.725C>T c.(724-726)TCC>TTC p.S242F C10orf88_uc001lgx.2_Missense_Mutation_p.S144F NM_024942 NP_079218 Q9H8K7 CJ088_HUMAN hypothetical protein LOC80007 242 0 all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205) Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735) GGTAGATGAGGATTGTAGTCC 0.403 NaN 0 0 0 1 0 32 102 ZRANB1 54764 broad.mit.edu 37 10 126631753 126631753 + Nonsense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:126631753C>T uc001lic.2 + 1 1062 c.691C>T c.(691-693)CAG>TAG p.Q231* ZRANB1_uc010qug.1_Nonsense_Mutation_p.Q257* NM_017580 NP_060050 Q9UGI0 ZRAN1_HUMAN zinc finger, RAN-binding domain containing 1 231 positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway aggresome|centrosome|intermediate filament cytoskeleton|nucleolus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding ovary(1)|kidney(1) 2 all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172) Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119) AATGGATTTTCAGAGGATTGA 0.433 NaN 0 0 0 1 0 22 54 MKI67 4288 broad.mit.edu 37 10 129904353 129904353 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:129904353G>A uc001lke.2 - 13 5946 c.5751C>T c.(5749-5751)ATC>ATT p.I1917I MKI67_uc001lkf.2_Silent_p.I1557I|MKI67_uc009yav.1_Silent_p.I1492I|MKI67_uc009yaw.1_Silent_p.I1067I NM_002417 NP_002408 P46013 KI67_HUMAN antigen identified by monoclonal antibody Ki-67 1917 16 X 122 AA approximate repeats.|8. cell proliferation nucleolus ATP binding|protein C-terminus binding ovary(4)|central_nervous_system(2)|skin(1) 7 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) CAAATGTGTTGATGTCTTTCT 0.478 NaN 0 0 0 1 0 64 200 GLRX3 10539 broad.mit.edu 37 10 131969878 131969878 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:131969878C>G uc001lkm.1 + 8 824 c.802C>G c.(802-804)CTG>GTG p.L268V GLRX3_uc001lkn.1_Missense_Mutation_p.L268V|GLRX3_uc001lko.2_RNA NM_006541 NP_006532 O76003 GLRX3_HUMAN glutaredoxin 3 268 Glutaredoxin 2. cell redox homeostasis|negative regulation of cardiac muscle hypertrophy|regulation of the force of heart contraction cell cortex electron carrier activity|iron-sulfur cluster binding|metal ion binding|protein disulfide oxidoreductase activity 0 all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222) OV - Ovarian serous cystadenocarcinoma(35;0.00218) CAAACAAATTCTGGAAATACT 0.254 NaN 0 0 0 1 0 19 68 JAKMIP3 282973 broad.mit.edu 37 10 133918366 133918366 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:133918366C>T uc001lkx.3 + 1 54 c.54C>T c.(52-54)CTC>CTT p.L18L NM_001105521 NP_001098991 Janus kinase and microtubule interacting protein breast(1) 1 all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224) CAGAGGCCCTCGCGGCGCTGC 0.667 NaN 0 0 0 1 0 3 6 PWWP2B 170394 broad.mit.edu 37 10 134219649 134219649 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:134219649G>A uc001lll.3 + 2 1674 c.1645G>A c.(1645-1647)GAA>AAA p.E549K PWWP2B_uc009ybe.2_Intron NM_138499 NP_612508 Q6NUJ5 PWP2B_HUMAN PWWP domain containing 2 isoform 1 549 PWWP. 0 all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224) OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186) CCCTTTCTCTGAATTTTTCAA 0.488 NaN 0 0 0 1 0 32 84 KNDC1 85442 broad.mit.edu 37 10 134999708 134999708 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:134999708G>A uc001llz.1 + 6 857 c.856G>A c.(856-858)GAG>AAG p.E286K KNDC1_uc001lma.1_Missense_Mutation_p.E221K NM_152643 NP_689856 Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) 286 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) CCTGGATGCCGAGCGCACCCT 0.701 NaN 0 0 0 1 0 5 17 CDHR5 53841 broad.mit.edu 37 11 624652 624652 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:624652C>T uc001lqj.2 - 2 271 c.166G>A c.(166-168)GAG>AAG p.E56K CDHR5_uc001lqk.2_Missense_Mutation_p.E56K|CDHR5_uc009ycc.2_5'UTR|CDHR5_uc009ycd.2_Missense_Mutation_p.E56K|CDHR5_uc001lql.2_Missense_Mutation_p.E56K|CDHR5_uc001lqm.2_5'UTR|CDHR5_uc009yce.1_Missense_Mutation_p.E56K|CDHR5_uc001lqn.1_Missense_Mutation_p.E56K NM_021924 NP_068743 Q9HBB8 CDHR5_HUMAN mucin and cadherin-like isoform 1 56 Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 TCCTGGCCCTCCGGGACGTGG 0.552 NaN 0 0 0 1 0 36 127 AP2A2 161 broad.mit.edu 37 11 1008107 1008107 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:1008107G>A uc001lss.2 + 18 2573 c.2392G>A c.(2392-2394)GAG>AAG p.E798K NM_012305 NP_036437 O94973 AP2A2_HUMAN adaptor-related protein complex 2, alpha 2 798 axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction AP-2 adaptor complex|cytosol lipid binding|protein transporter activity 0 all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082) CGACTTCACGGAGGCGCCAGT 0.657 NaN 0 0 0 1 0 9 19 MUC2 4583 broad.mit.edu 37 11 1088741 1088741 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:1088741G>A uc001lsx.1 + 26 3553 c.3526G>A c.(3526-3528)GAG>AAG p.E1176K NM_002457 NP_002448 Q02817 MUC2_HUMAN mucin 2 precursor 1176 inner mucus layer|outer mucus layer protein binding lung(1)|breast(1) 2 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) CATCTATGAGGAGGATCTGAA 0.612 NaN 0 0 0 1 0 4 22 SLC22A18 5002 broad.mit.edu 37 11 2929501 2929501 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:2929501C>T uc001lwx.2 + 3 401 c.183C>T c.(181-183)TTC>TTT p.F61F SLC22A18_uc001lwy.2_Silent_p.F61F|SLC22A18_uc001lwz.2_Silent_p.F61F NM_183233 NP_899056 Q96BI1 S22AI_HUMAN tumor suppressing subtransferable candidate 5 61 Helical; (Potential). excretion|organic cation transport apical plasma membrane|cytoplasmic part|integral to membrane|nuclear envelope drug:hydrogen antiporter activity|symporter activity|ubiquitin protein ligase binding central_nervous_system(2)|ovary(1) 3 all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198) BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192) CCATTGCCTTCGGCTACCTGC 0.617 NaN 0 0 0 1 0 25 48 SLC22A18 5002 broad.mit.edu 37 11 2946264 2946264 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:2946264C>T uc001lwx.2 + 11 1330 c.1112C>T c.(1111-1113)TCT>TTT p.S371F SLC22A18_uc001lwy.2_Missense_Mutation_p.S371F|SLC22A18_uc001lwz.2_Missense_Mutation_p.S273F NM_183233 NP_899056 Q96BI1 S22AI_HUMAN tumor suppressing subtransferable candidate 5 371 excretion|organic cation transport apical plasma membrane|cytoplasmic part|integral to membrane|nuclear envelope drug:hydrogen antiporter activity|symporter activity|ubiquitin protein ligase binding central_nervous_system(2)|ovary(1) 3 all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198) BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192) CTCTGCGCCTCTGTACAACCA 0.652 NaN 0 0 0 1 0 35 103 OR51D1 390038 broad.mit.edu 37 11 4661773 4661773 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:4661773C>G uc010qyk.1 + 1 753 c.753C>G c.(751-753)TTC>TTG p.F251L NM_001004751 NP_001004751 Q8NGF3 O51D1_HUMAN olfactory receptor, family 51, subfamily D, 251 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19) TCAAGGCTTTCAACACCTGCA 0.557 NaN 0 0 0 1 0 33 94 OR52A4 390053 broad.mit.edu 37 11 5142389 5142389 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:5142389G>A uc001lzz.1 - 1 420 c.420C>T c.(418-420)TTC>TTT p.F140F OR52A4_uc001maa.2_RNA NM_001005222 NP_001005222 olfactory receptor, family 52, subfamily A, ovary(2) 2 Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675) Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2) GCTGTCGAGTGAATACTATAG 0.458 NaN 0 0 0 1 0 12 39 OR52D1 390066 broad.mit.edu 37 11 5510634 5510634 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:5510634C>T uc010qzg.1 + 1 698 c.698C>T c.(697-699)TCT>TTT p.S233F HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001005163 NP_001005163 Q9H346 O52D1_HUMAN olfactory receptor, family 52, subfamily D, 233 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CATCTTCCATCTCATGATGCC 0.512 NaN 0 0 0 1 0 35 161 UBQLN3 50613 broad.mit.edu 37 11 5530516 5530516 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:5530516G>A uc001may.1 - 2 359 c.273C>T c.(271-273)ATC>ATT p.I91I HBG2_uc001mak.1_Intron NM_017481 NP_059509 Q9H347 UBQL3_HUMAN ubiquilin 3 91 Ubiquitin-like. ovary(3) 3 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCTGCCTCTTGATGACCAGGT 0.567 NaN 0 0 0 1 0 21 75 OR56A3 390083 broad.mit.edu 37 11 5968681 5968681 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:5968681C>T uc010qzt.1 + 1 105 c.105C>T c.(103-105)CTC>CTT p.L35L NM_001003443 NP_001003443 Q8NH54 O56A3_HUMAN olfactory receptor, family 56, subfamily A, 35 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCCTGCCCCTCAGCCTCCTTT 0.582 NaN 0 0 0 1 0 41 96 DCHS1 8642 broad.mit.edu 37 11 6661080 6661080 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:6661080C>T uc001mem.1 - 2 2175 c.1765G>A c.(1765-1767)GAG>AAG p.E589K NM_003737 NP_003728 Q96JQ0 PCD16_HUMAN dachsous 1 precursor 589 Cadherin 6.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|large_intestine(1)|pancreas(1) 5 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGGGTGCCCTCAGGCAGTGAG 0.567 NaN 0 0 0 1 0 11 65 RBMXL2 27288 broad.mit.edu 37 11 7110619 7110619 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:7110619G>A uc001mfc.2 + 1 455 c.268G>A c.(268-270)GAG>AAG p.E90K NM_014469 NP_055284 O75526 HNRGT_HUMAN testes-specific heterogenous nuclear 90 nucleus|ribonucleoprotein complex nucleotide binding|RNA binding 0 Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) ACCGGCGTTCGAGAGCAGCCG 0.602 NaN 0 0 0 1 0 6 22 ASCL3 56676 broad.mit.edu 37 11 8959695 8959695 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:8959695C>T uc001mhd.1 - 2 74 c.14G>A c.(13-15)AGA>AAA p.R5K NM_020646 NP_065697 Q9NQ33 ASCL3_HUMAN ASCL3 4 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleolus DNA binding 0 Epithelial(150;1.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0228) AGAGTTGCCTCTGTTGTCCAT 0.443 NaN 0 0 0 1 0 80 227 SCUBE2 57758 broad.mit.edu 37 11 9111371 9111371 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:9111371C>G uc001mhh.1 - 2 219 c.139G>C c.(139-141)GAT>CAT p.D47H SCUBE2_uc001mhi.1_Missense_Mutation_p.D47H|SCUBE2_uc001mhj.1_Missense_Mutation_p.D47H NM_020974 NP_066025 Q9NQ36 SCUB2_HUMAN CEGP1 protein precursor 47 EGF-like 1; calcium-binding (Potential). extracellular region calcium ion binding ovary(1)|skin(1) 2 all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116) GCACACTCATCTACATCTGCA 0.443 NaN 0 0 0 1 0 27 106 AMPD3 272 broad.mit.edu 37 11 10483090 10483090 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:10483090G>A uc001mio.1 + 2 359 c.24G>A c.(22-24)CTG>CTA p.L8L AMPD3_uc010rbz.1_5'UTR|AMPD3_uc001min.1_Silent_p.L17L|AMPD3_uc009yfw.1_RNA|AMPD3_uc009yfx.1_Silent_p.L8L|AMPD3_uc009yfz.2_RNA|AMPD3_uc001mip.1_Silent_p.L15L|AMPD3_uc009yfy.2_Silent_p.L8L NM_001025389 NP_001020560 Q01432 AMPD3_HUMAN adenosine monophosphate deaminase 3 isoform 1B 8 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) TTCCCAAGCTGAACATCTCTG 0.537 NaN 0 0 0 1 0 49 166 MICAL2 9645 broad.mit.edu 37 11 12245000 12245000 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:12245000C>T uc001mjz.2 + 12 1780 c.1492C>T c.(1492-1494)CTC>TTC p.L498F MICAL2_uc010rch.1_Missense_Mutation_p.L498F|MICAL2_uc001mka.2_Missense_Mutation_p.L498F|MICAL2_uc010rci.1_Missense_Mutation_p.L498F|MICAL2_uc001mkb.2_Missense_Mutation_p.L498F|MICAL2_uc001mkc.2_Missense_Mutation_p.L498F|MICAL2_uc001mkd.2_Missense_Mutation_p.L327F|MICAL2_uc010rcj.1_5'UTR NM_014632 NP_055447 O94851 MICA2_HUMAN microtubule associated monoxygenase, calponin 498 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding upper_aerodigestive_tract(2) 2 Epithelial(150;0.00552) GCACTACCCTCTCGAGAGACT 0.562 NaN 0 0 0 1 0 28 121 BTBD10 84280 broad.mit.edu 37 11 13427306 13427306 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:13427306C>G uc001mkz.2 - 7 1163 c.906G>C c.(904-906)CAG>CAC p.Q302H BTBD10_uc010rcl.1_Missense_Mutation_p.Q310H|BTBD10_uc001mla.2_Missense_Mutation_p.Q286H|BTBD10_uc009ygn.2_RNA|BTBD10_uc010rcm.1_Missense_Mutation_p.Q254H|BTBD10_uc010rcn.1_Missense_Mutation_p.Q271H|BTBD10_uc009ygo.2_Missense_Mutation_p.Q254H NM_032320 NP_115696 Q9BSF8 BTBDA_HUMAN K+ channel tetramerization protein 302 nucleus 0 Epithelial(150;0.0214) GTTCCCCACTCTGGGCACTAG 0.428 NaN 0 0 0 1 0 44 117 RPS13 6207 broad.mit.edu 37 11 17099182 17099182 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:17099182G>A uc001mmp.2 - 1 39 c.7C>T c.(7-9)CGC>TGC p.R3C NM_001017 NP_001008 P62277 RS13_HUMAN ribosomal protein S13 3 endocrine pancreas development|negative regulation of RNA splicing|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleolus mRNA binding|protein binding|structural constituent of ribosome 0 GCATGCATGCGACCCATGATG 0.652 NaN 0 0 0 1 0 14 50 NAV2 89797 broad.mit.edu 37 11 20078127 20078127 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:20078127C>T uc010rdm.1 + 21 5313 c.4952C>T c.(4951-4953)TCA>TTA p.S1651L NAV2_uc001mpp.2_Intron|NAV2_uc001mpr.3_Intron|NAV2_uc001mpt.2_Intron|NAV2_uc009yhx.2_Intron|NAV2_uc009yhy.1_Intron|NAV2_uc009yhz.2_Intron|NAV2_uc001mpu.2_Intron NM_145117 NP_660093 Q8IVL1 NAV2_HUMAN neuron navigator 2 isoform 2 1651 Ser-rich. nucleus ATP binding|helicase activity skin(4)|ovary(1)|pancreas(1) 6 CTTCACAGCTCACTTCATTTC 0.408 NaN 0 0 0 1 0 9 43 ANO5 203859 broad.mit.edu 37 11 22297645 22297645 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:22297645G>C uc001mqi.2 + 21 2737 c.2420G>C c.(2419-2421)AGA>ACA p.R807T ANO5_uc001mqj.2_Missense_Mutation_p.R806T NM_213599 NP_998764 Q75V66 ANO5_HUMAN anoctamin 5 isoform a 807 Extracellular (Potential). chloride channel complex|endoplasmic reticulum membrane chloride channel activity central_nervous_system(3)|ovary(1) 4 TTCAGGTACAGAGATTACAGA 0.323 NaN 0 0 0 1 0 11 29 MUC15 143662 broad.mit.edu 37 11 26586972 26586972 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:26586972G>C uc001mqx.2 - 2 700 c.434C>G c.(433-435)TCT>TGT p.S145C ANO3_uc010rdr.1_Intron|ANO3_uc001mqt.3_Intron|ANO3_uc010rds.1_Intron|ANO3_uc010rdt.1_Intron|MUC15_uc001mqw.2_Missense_Mutation_p.S172C|MUC15_uc001mqy.2_Missense_Mutation_p.S172C NM_145650 NP_663625 Q8N387 MUC15_HUMAN mucin 15 isoform b 145 Extracellular (Potential). extracellular region|integral to membrane|plasma membrane ovary(1)|central_nervous_system(1)|pancreas(1) 3 GTTTTCTGAAGACAGAGCAGG 0.428 NaN 0 0 0 1 0 35 122 ELP4 26610 broad.mit.edu 37 11 31648699 31648699 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:31648699G>A uc001mtb.2 + 6 731 c.696G>A c.(694-696)CAG>CAA p.Q232Q ELP4_uc001mta.1_RNA|ELP4_uc001mtc.2_Silent_p.Q232Q|ELP4_uc010rdz.1_Silent_p.Q233Q NM_019040 NP_061913 Q96EB1 ELP4_HUMAN elongation protein 4 homolog 232 histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding upper_aerodigestive_tract(1)|ovary(1)|prostate(1) 3 Lung SC(675;0.225) AGTTTATCCAGAACATCATTT 0.318 NaN 0 0 0 1 0 14 44 FBXO3 26273 broad.mit.edu 37 11 33772145 33772145 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:33772145G>A uc001muz.2 - 8 900 c.872C>T c.(871-873)TCG>TTG p.S291L FBXO3_uc010rej.1_5'UTR|FBXO3_uc001muy.2_Missense_Mutation_p.S178L|FBXO3_uc009ykb.2_RNA|FBXO3_uc001mva.1_Missense_Mutation_p.S291L|FBXO3_uc001mvb.1_Missense_Mutation_p.S286L|FBXO3_uc010rek.1_RNA NM_012175 NP_036307 Q9UK99 FBX3_HUMAN F-box only protein 3 isoform 1 291 ApaG. proteolysis nucleus ubiquitin-protein ligase activity pancreas(1) 1 Lung NSC(402;0.0804) BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008) TGGCAGAAACGATGTGGAAAC 0.373 NaN 0 0 0 1 0 10 34 RAG2 5897 broad.mit.edu 37 11 36614675 36614675 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:36614675C>G uc001mwv.3 - 2 1232 c.1044G>C c.(1042-1044)TTG>TTC p.L348F RAG1_uc001mwt.2_RNA|C11orf74_uc010rfd.1_5'Flank|C11orf74_uc001mww.1_5'Flank|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank NM_000536 NP_000527 P55895 RAG2_HUMAN recombination activating gene 2 348 chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination nucleus chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding skin(3)|ovary(1)|pancreas(1) 5 all_lung(20;0.226) all_hematologic(20;0.00756) CAGCACATTTCAACATATAGA 0.383 NaN Familial_Hemophagocytic_Lymphohistiocytosis 0 0 0 1 0 32 93 AMBRA1 55626 broad.mit.edu 37 11 46419000 46419000 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:46419000C>T uc010rgu.1 - 18 4257 c.3897G>A c.(3895-3897)TAG>TAA p.*1299* AMBRA1_uc010rgt.1_3'UTR|AMBRA1_uc009ylc.1_Silent_p.*1270*|AMBRA1_uc001ncu.1_Silent_p.*1209*|AMBRA1_uc001ncv.2_Silent_p.*1302*|AMBRA1_uc001ncw.2_Silent_p.*1180*|AMBRA1_uc001ncx.2_Silent_p.*1239* NM_017749 NP_060219 Q9C0C7 AMRA1_HUMAN activating molecule in beclin-1-regulated 1299 autophagy|cell differentiation|nervous system development autophagic vacuole|cytoplasmic vesicle large_intestine(1)|ovary(1)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182) ACGTTTGTCTCTACCTGTTCC 0.592 NaN 0 0 0 1 0 31 95 CKAP5 9793 broad.mit.edu 37 11 46801788 46801788 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:46801788C>T uc001ndi.1 - 20 2499 c.2389G>A c.(2389-2391)GAG>AAG p.E797K CKAP5_uc009ylg.1_Missense_Mutation_p.E683K|CKAP5_uc001ndj.1_Missense_Mutation_p.E797K NM_001008938 NP_001008938 Q14008 CKAP5_HUMAN colonic and hepatic tumor over-expressed protein 797 cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization centrosome|cytosol protein binding|protein binding ovary(1)|skin(1) 2 GCAGGCTTCTCATCCTCAAAG 0.443 NaN 0 0 0 1 0 12 55 LRP4 4038 broad.mit.edu 37 11 46907941 46907941 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:46907941C>T uc001ndn.3 - 17 2505 c.2359G>A c.(2359-2361)GTG>ATG p.V787M NM_002334 NP_002325 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 787 Extracellular (Potential).|LDL-receptor class B 6. 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) GTCCAGTACACGTGGTCATCC 0.577 NaN 0 0 0 1 0 7 19 C11orf49 79096 broad.mit.edu 37 11 47073976 47073976 + Nonsense_Mutation SNP C C T rs14051 TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:47073976C>T uc001ndp.2 + 3 293 c.187C>T c.(187-189)CGA>TGA p.R63* C11orf49_uc001nds.2_Nonsense_Mutation_p.R63*|C11orf49_uc001ndq.2_Nonsense_Mutation_p.R63*|C11orf49_uc001ndr.2_Nonsense_Mutation_p.R63*|C11orf49_uc010rgx.1_5'UTR|C11orf49_uc010rgy.1_Nonsense_Mutation_p.R54*|C11orf49_uc010rgz.1_Intron NM_024113 NP_077018 Q9H6J7 CK049_HUMAN hypothetical protein LOC79096 isoform 3 63 0 CATTCTCTTTCGAGAATTCAG 0.453 NaN 0 0 0 1 0 50 134 DDB2 1643 broad.mit.edu 37 11 47259519 47259519 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:47259519G>A uc001neb.2 + 8 1350 c.1155G>A c.(1153-1155)CAG>CAA p.Q385Q DDB2_uc001nec.2_RNA|DDB2_uc009yli.1_Silent_p.Q321Q|DDB2_uc001ned.2_RNA|DDB2_uc001nee.2_Silent_p.Q196Q|DDB2_uc001nef.2_Silent_p.Q182Q|DDB2_uc001neg.2_Silent_p.Q244Q|DDB2_uc001neh.2_RNA NM_000107 NP_000098 Q92466 DDB2_HUMAN damage-specific DNA binding protein 2 385 nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV nucleoplasm|protein complex damaged DNA binding|protein binding kidney(2)|ovary(1) 3 TGATGTGTCAGCTCTATGACC 0.463 NaN Mis|N skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum 0 0 0 1 0 18 70 DDB2 1643 broad.mit.edu 37 11 47259526 47259526 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:47259526G>A uc001neb.2 + 8 1357 c.1162G>A c.(1162-1164)GAC>AAC p.D388N DDB2_uc001nec.2_RNA|DDB2_uc009yli.1_Missense_Mutation_p.D324N|DDB2_uc001ned.2_RNA|DDB2_uc001nee.2_Missense_Mutation_p.D199N|DDB2_uc001nef.2_Missense_Mutation_p.D185N|DDB2_uc001neg.2_Missense_Mutation_p.D247N|DDB2_uc001neh.2_RNA NM_000107 NP_000098 Q92466 DDB2_HUMAN damage-specific DNA binding protein 2 388 nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV nucleoplasm|protein complex damaged DNA binding|protein binding kidney(2)|ovary(1) 3 TCAGCTCTATGACCCAGAATC 0.463 NaN Mis|N skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum 0 0 0 1 0 17 63 MYBPC3 4607 broad.mit.edu 37 11 47372904 47372904 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:47372904C>T uc001nfa.3 - 2 233 c.178G>A c.(178-180)GAG>AAG p.E60K NM_000256 NP_000247 Q14896 MYPC3_HUMAN myosin binding protein C, cardiac 60 cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis C zone|cytosol|striated muscle myosin thick filament actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding ovary(2)|central_nervous_system(1) 3 Lung(87;0.176) CGTGTGCCCTCTGTGGCCAGG 0.632 NaN 0 0 0 1 0 3 21 PTPRJ 5795 broad.mit.edu 37 11 48161324 48161324 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:48161324C>T uc001ngp.3 + 11 2794 c.2439C>T c.(2437-2439)ATC>ATT p.I813I PTPRJ_uc010rhr.1_Silent_p.I258I NM_002843 NP_002834 Q12913 PTPRJ_HUMAN protein tyrosine phosphatase, receptor type, J 813 Extracellular (Potential). contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity breast(3)|kidney(3)|ovary(1)|skin(1) 8 CTACTGGCATCACAGGTGGGC 0.542 NaN 0 0 0 1 0 10 27 TRIM48 79097 broad.mit.edu 37 11 55032749 55032749 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:55032749C>T uc010rid.1 + 2 504 c.418C>T c.(418-420)CAC>TAC p.H140Y NM_024114 NP_077019 Q8IWZ4 TRI48_HUMAN tripartite motif-containing 48 124 B box-type. intracellular zinc ion binding 0 GCACCGGTATCACAGACACTG 0.507 NaN 0 0 0 1 0 25 34 OR4C15 81309 broad.mit.edu 37 11 55321997 55321997 + Missense_Mutation SNP A A T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:55321997A>T uc010rig.1 + 1 215 c.215A>T c.(214-216)AAT>ATT p.N72I NM_001001920 NP_001001920 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, 18 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 CTTTCACAGAATCCAAATGTT 0.398 NaN HNSCC(20;0.049) 0 0 0 1 0 35 96 OR4C16 219428 broad.mit.edu 37 11 55340229 55340229 + Missense_Mutation SNP A A C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:55340229A>C uc010rih.1 + 1 626 c.626A>C c.(625-627)TAT>TCT p.Y209S NM_001004701 NP_001004701 Q8NGL9 OR4CG_HUMAN olfactory receptor, family 4, subfamily C, 209 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_epithelial(135;0.0748) GCAGTGAGTTATGTCATGCTA 0.433 NaN 0 0 0 1 0 17 45 OR8I2 120586 broad.mit.edu 37 11 55861684 55861684 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:55861684C>G uc010rix.1 + 1 901 c.901C>G c.(901-903)CTG>GTG p.L301V NM_001003750 NP_001003750 Q8N0Y5 OR8I2_HUMAN olfactory receptor, family 8, subfamily I, 301 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1) 1 Esophageal squamous(21;0.00693) AAATGCTCTTCTGAGAGTCAT 0.388 NaN 0 0 0 1 0 7 21 OR8H3 390152 broad.mit.edu 37 11 55890712 55890712 + Silent SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:55890712C>G uc001nii.1 + 1 864 c.864C>G c.(862-864)CTC>CTG p.L288L NM_001005201 NP_001005201 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, 288 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00693) TGAATCCACTCATTTATAGTC 0.363 NaN 0 0 0 1 0 17 54 OR8K3 219473 broad.mit.edu 37 11 56086160 56086160 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:56086160C>T uc010rjf.1 + 1 378 c.378C>T c.(376-378)ATC>ATT p.I126I NM_001005202 NP_001005202 Q8NH51 OR8K3_HUMAN olfactory receptor, family 8, subfamily K, 126 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Esophageal squamous(21;0.00448) ATGTGGCCATCTGTAACCCTC 0.413 NaN 0 0 0 1 0 20 62 APLNR 187 broad.mit.edu 37 11 57004286 57004286 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:57004286C>T uc001njo.2 - 1 642 c.193G>A c.(193-195)GAT>AAT p.D65N APLNR_uc001njn.3_RNA NM_005161 NP_005152 P35414 APJ_HUMAN apelin receptor 65 Cytoplasmic (Potential). integral to plasma membrane G-protein coupled receptor activity lung(5)|ovary(1) 6 ATGAAGATATCAGCTGAGCGC 0.612 NaN 0 0 0 1 0 20 59 SMTNL1 219537 broad.mit.edu 37 11 57310770 57310770 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:57310770G>A uc009ymh.1 + 2 709 c.709G>A c.(709-711)GAT>AAT p.D237N NM_001105565 NP_001099035 E9PPJ3 E9PPJ3_HUMAN smoothelin-like 1 219 ovary(1) 1 CAAGGAGCCCGATGGGAAAGA 0.557 NaN 0 0 0 1 0 23 45 SMTNL1 219537 broad.mit.edu 37 11 57310839 57310839 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:57310839G>A uc009ymh.1 + 2 778 c.778G>A c.(778-780)GAG>AAG p.E260K NM_001105565 NP_001099035 E9PPJ3 E9PPJ3_HUMAN smoothelin-like 1 242 ovary(1) 1 GGAGGATGCAGAGGAGGCAGT 0.567 NaN 0 0 0 1 0 13 55 SERPING1 710 broad.mit.edu 37 11 57373936 57373936 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:57373936C>T uc001nkp.1 + 6 1136 c.945C>T c.(943-945)TTC>TTT p.F315F SERPING1_uc001nkq.1_Silent_p.F315F|SERPING1_uc010rju.1_Silent_p.F263F|SERPING1_uc010rjv.1_Silent_p.F320F|SERPING1_uc001nkr.1_Silent_p.F315F|SERPING1_uc009ymi.1_Silent_p.F324F|SERPING1_uc009ymj.1_Silent_p.F315F|SERPING1_uc001nks.1_Silent_p.F6F NM_000062 NP_000053 P05155 IC1_HUMAN serpin peptidase inhibitor, clade G, member 1 315 HFKNSVI -> QLQKLSY (in Ref. 19; AA sequence). blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation extracellular space|platelet alpha granule lumen protein binding|serine-type endopeptidase inhibitor activity central_nervous_system(1) 1 CCTTTCACTTCAAAAACTCAG 0.423 NaN Hereditary_Angioedema 0 0 0 1 0 29 97 GLYAT 10249 broad.mit.edu 37 11 58477493 58477493 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:58477493C>T uc001nnb.2 - 6 792 c.637G>A c.(637-639)GAG>AAG p.E213K NM_201648 NP_964011 Q6IB77 GLYAT_HUMAN glycine-N-acyltransferase isoform a 213 acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process mitochondrial matrix glycine N-acyltransferase activity|glycine N-benzoyltransferase activity 0 Breast(21;0.0044)|all_epithelial(135;0.0157) Glycine(DB00145) GGGGTCCCCTCAGGCCCCAGG 0.537 NaN 0 0 0 1 0 19 82 TMEM132A 54972 broad.mit.edu 37 11 60699265 60699265 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:60699265C>G uc001nqj.2 + 6 1314 c.1121C>G c.(1120-1122)CCA>CGA p.P374R TMEM132A_uc001nqi.2_Missense_Mutation_p.P375R|TMEM132A_uc001nqk.2_Missense_Mutation_p.P387R|TMEM132A_uc001nql.1_Missense_Mutation_p.P387R|TMEM132A_uc001nqm.2_5'Flank NM_178031 NP_821174 Q24JP5 T132A_HUMAN transmembrane protein 132A isoform b 374 Extracellular (Potential). endoplasmic reticulum membrane|Golgi membrane|integral to membrane skin(1) 1 CTGGAGTACCCAGGCCAGGCC 0.577 NaN 0 0 0 1 0 36 114 VWCE 220001 broad.mit.edu 37 11 61058812 61058812 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:61058812G>A uc001nra.2 - 3 498 c.219C>T c.(217-219)TTC>TTT p.F73F VWCE_uc001nrb.2_RNA NM_152718 NP_689931 Q96DN2 VWCE_HUMAN von Willebrand factor C and EGF domains 73 EGF-like 1. extracellular region calcium ion binding ovary(1) 1 TCCCACAGCCGAAGGAGCAGA 0.642 NaN 0 0 0 1 0 3 26 RAB3IL1 5866 broad.mit.edu 37 11 61672247 61672247 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:61672247G>A uc001nso.2 - 6 923 c.765C>T c.(763-765)TGC>TGT p.C255C RAB3IL1_uc001nsp.2_Silent_p.C229C NM_013401 NP_037533 Q8TBN0 R3GEF_HUMAN RAB3A interacting protein (rabin3)-like 1 255 protein binding skin(2)|central_nervous_system(1) 3 TGAAGTCCAGGCAGGGGCCCA 0.662 NaN 0 0 0 1 0 3 23 AHNAK 79026 broad.mit.edu 37 11 62293224 62293224 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:62293224C>G uc001ntl.2 - 5 8965 c.8665G>C c.(8665-8667)GAC>CAC p.D2889H AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 2889 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) AGGTGCCAGTCTGGACCCTGA 0.517 NaN 0 0 0 1 0 82 258 AHNAK 79026 broad.mit.edu 37 11 62293417 62293417 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:62293417C>G uc001ntl.2 - 5 8772 c.8472G>C c.(8470-8472)AAG>AAC p.K2824N AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 2824 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) TCTCTGGCATCTTAAACTTTG 0.428 NaN 0 0 0 1 0 37 128 AHNAK 79026 broad.mit.edu 37 11 62294428 62294428 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:62294428C>T uc001ntl.2 - 5 7761 c.7461G>A c.(7459-7461)ATG>ATA p.M2487I AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 2487 nervous system development nucleus protein binding p.M2487V(1) ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) CCCTGATGTTCATATCTGGTA 0.478 NaN 0 0 0 1 0 75 165 GANAB 23193 broad.mit.edu 37 11 62397394 62397394 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:62397394C>T uc001nub.2 - 14 1662 c.1629G>A c.(1627-1629)ATG>ATA p.M543I GANAB_uc001ntz.2_5'Flank|GANAB_uc001nua.2_Missense_Mutation_p.M565I|GANAB_uc001nuc.2_Missense_Mutation_p.M446I|GANAB_uc010rma.1_Missense_Mutation_p.M451I|GANAB_uc010rmb.1_Missense_Mutation_p.M429I NM_198334 NP_938148 Q14697 GANAB_HUMAN neutral alpha-glucosidase AB isoform 2 543 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|Golgi apparatus|melanosome carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding ovary(3)|central_nervous_system(1)|skin(1) 5 ATGGTTCGTTCATGTCATTCC 0.537 NaN 0 0 0 1 0 20 85 INTS5 80789 broad.mit.edu 37 11 62416061 62416061 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:62416061G>A uc001nud.2 - 2 1544 c.1491C>T c.(1489-1491)CTC>CTT p.L497L GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank NM_030628 NP_085131 Q6P9B9 INT5_HUMAN integrator complex subunit 5 497 snRNA processing integral to membrane|integrator complex protein binding ovary(2) 2 GGTGCTGCCAGAGGAAGCGCT 0.602 NaN 0 0 0 1 0 52 167 C11orf83 790955 broad.mit.edu 37 11 62439326 62439326 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:62439326G>A uc001nui.3 + 1 201 c.109G>A c.(109-111)GAA>AAA p.E37K C11orf48_uc001nue.2_5'Flank|C11orf48_uc001nuf.2_5'Flank|C11orf48_uc010rmd.1_5'Flank NM_001085372 NP_001078841 Q6UW78 CK083_HUMAN hypothetical protein LOC790955 precursor 37 extracellular region 0 GCGGAAGCAGGAAATGCTAAA 0.632 NaN 0 0 0 1 0 21 62 HNRNPUL2 221092 broad.mit.edu 37 11 62483065 62483065 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:62483065G>A uc001nuw.2 - 13 2263 c.2070C>T c.(2068-2070)TTC>TTT p.F690F HNRNPUL2_uc001nuu.1_RNA NM_001079559 NP_001073027 Q1KMD3 HNRL2_HUMAN heterogeneous nuclear ribonucleoprotein U-like 690 Tyr-rich. cell killing nucleus ATP binding|nucleic acid binding 0 ATCGATCATAGAAATTACGGT 0.423 NaN 0 0 0 1 0 27 95 NXF1 10482 broad.mit.edu 37 11 62563952 62563952 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:62563952G>A uc001nvf.1 - 14 1402 c.1266C>T c.(1264-1266)TTC>TTT p.F422F NXF1_uc001nvg.1_3'UTR|NXF1_uc009yog.1_Silent_p.F465F NM_006362 NP_006353 Q9UBU9 NXF1_HUMAN nuclear RNA export factor 1 isoform 1 422 NTF2. gene expression|interspecies interaction between organisms cytosol|nuclear speck nucleotide binding|protein binding skin(3) 3 TCTGAGGAATGAAAGGAATGC 0.547 NaN 0 0 0 1 0 31 135 SLC22A25 387601 broad.mit.edu 37 11 62985102 62985102 + Missense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:62985102G>T uc001nwr.1 - 3 612 c.612C>A c.(610-612)TTC>TTA p.F204L SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_RNA|SLC22A25_uc001nws.1_Intron|SLC22A25_uc001nwt.1_Missense_Mutation_p.F204L NM_199352 NP_955384 Q6T423 S22AP_HUMAN putative UST1-like organic anion transporter 204 Extracellular (Potential). transmembrane transport integral to membrane ovary(3)|skin(1) 4 CCCCAGCCAAGAAGCGCAGGG 0.473 NaN 1 0 1.58986e-06 1 1.63725e-06 10 46 RTN3 10313 broad.mit.edu 37 11 63520033 63520033 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:63520033G>A uc001nxq.2 + 5 2980 c.2793G>A c.(2791-2793)ATG>ATA p.M931I RTN3_uc001nxo.2_Missense_Mutation_p.M135I|RTN3_uc001nxm.2_Missense_Mutation_p.M154I|RTN3_uc001nxn.2_Missense_Mutation_p.M912I|RTN3_uc001nxp.2_Missense_Mutation_p.M135I|RTN3_uc009yov.2_Missense_Mutation_p.M819I|RTN3_uc010rmt.1_Intron|RTN3_uc010rmu.1_Intron NM_201428 NP_958831 O95197 RTN3_HUMAN reticulon 3 isoform b 931 Reticulon. apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane ovary(1) 1 ATAATTACATGAATGCTGCCA 0.423 NaN 0 0 0 1 0 39 117 FERMT3 83706 broad.mit.edu 37 11 63978565 63978565 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:63978565G>A uc001nyl.2 + 4 585 c.436G>A c.(436-438)GAG>AAG p.E146K FERMT3_uc001nym.2_Missense_Mutation_p.E146K NM_178443 NP_848537 Q86UX7 URP2_HUMAN fermitin family homolog 3 long form 146 integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin cell junction|cell projection|podosome integrin binding ovary(1) 1 CCGGGCTCCTGagaagaagga 0.552 NaN 0 0 0 1 0 5 12 PYGM 5837 broad.mit.edu 37 11 64514790 64514790 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:64514790G>A uc001oax.3 - 18 3035 c.2218C>T c.(2218-2220)CGG>TGG p.R740W RASGRP2_uc009ypv.2_5'Flank|RASGRP2_uc009ypw.2_5'Flank|RASGRP2_uc001oaw.1_5'Flank|PYGM_uc001oay.3_Missense_Mutation_p.R652W NM_005609 NP_005600 P11217 PYGM_HUMAN muscle glycogen phosphorylase isoform 1 740 glucose metabolic process|glycogen catabolic process cytosol glycogen phosphorylase activity|protein binding ovary(2) 2 Pyridoxal Phosphate(DB00114) ATGACCTGCCGAAGCTCAGGA 0.567 NaN 0 0 0 1 0 30 63 NAALADL1 10004 broad.mit.edu 37 11 64821987 64821987 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:64821987G>A uc001ocn.2 - 5 843 c.827C>T c.(826-828)TCC>TTC p.S276F NAALADL1_uc010rnw.1_5'UTR NM_005468 NP_005459 Q9UQQ1 NALDL_HUMAN N-acetylated alpha-linked acidic 276 NAALADase.|Extracellular (Potential). proteolysis apical plasma membrane|integral to membrane carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity 0 GGGAAATCCGGAGACATTGGC 0.597 NaN 0 0 0 1 0 10 35 SLC22A20 440044 broad.mit.edu 37 11 64985056 64985056 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:64985056C>T uc010roc.1 + 3 533 c.530C>T c.(529-531)TCG>TTG p.S177L SLC22A20_uc010rob.1_Missense_Mutation_p.S177L NM_001004326 NP_001004326 A6NK97 S22AK_HUMAN solute carrier family 22, member 20 177 Helical; (Potential). ion transport integral to membrane transmembrane transporter activity central_nervous_system(1) 1 CTGGCAGCTTCGGGGGCCGCC 0.602 NaN 0 0 0 1 0 13 27 SNX32 254122 broad.mit.edu 37 11 65618826 65618826 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:65618826C>T uc001ofr.2 + 8 864 c.737C>T c.(736-738)TCA>TTA p.S246L NM_152760 NP_689973 Q86XE0 SNX32_HUMAN sorting nexin 6B 246 cell communication|protein transport phosphatidylinositol binding 0 READ - Rectum adenocarcinoma(159;0.171) ATCCCTATCTCAGCTGCGCTG 0.562 NaN OREG0021087 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 1 0 14 40 CATSPER1 117144 broad.mit.edu 37 11 65793777 65793777 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:65793777G>C uc001ogt.2 - 1 212 c.74C>G c.(73-75)TCT>TGT p.S25C NM_053054 NP_444282 Q8NEC5 CTSR1_HUMAN sperm-associated cation channel 1 25 Cytoplasmic (Potential). cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane protein binding ovary(2) 2 TGATGAGTGAGAGCGAAAGAA 0.542 NaN 0 0 0 1 0 33 132 LRFN4 78999 broad.mit.edu 37 11 66627266 66627266 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:66627266C>G uc001ojr.2 + 2 1848 c.1508C>G c.(1507-1509)TCG>TGG p.S503W PC_uc001ojo.1_Intron|PC_uc001ojp.1_Intron|PC_uc001ojn.1_Intron|LRFN4_uc001ojs.2_Intron NM_024036 NP_076941 Q6PJG9 LRFN4_HUMAN leucine rich repeat and fibronectin type III 503 Extracellular (Potential). integral to membrane 0 CTGCCGGCCTCGCCCCTGTGC 0.701 NaN 0 0 0 1 0 4 26 NDUFV1 4723 broad.mit.edu 37 11 67379873 67379873 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:67379873G>A uc001omj.2 + 10 1492 c.1339G>A c.(1339-1341)GAG>AAG p.E447K NDUFV1_uc010rpv.1_Missense_Mutation_p.E346K|NDUFV1_uc001oml.2_Missense_Mutation_p.E440K|NDUFV1_uc001omk.3_Missense_Mutation_p.E438K|NDUFV1_uc010rpw.1_Missense_Mutation_p.E156K NM_007103 NP_009034 P49821 NDUV1_HUMAN NADH dehydrogenase ubiquinone flavoprotein 1 447 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I 4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity skin(1) 1 NADH(DB00157) GCCGGAGCTCGAGGAGCGGAT 0.632 NaN 0 0 0 1 0 12 47 TBX10 347853 broad.mit.edu 37 11 67402490 67402490 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:67402490C>T uc001omp.2 - 2 340 c.252G>A c.(250-252)GAG>GAA p.E84E NM_005995 NP_005986 O75333 TBX10_HUMAN T-box 10 84 T-box. anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity 0 TGACGATCATCTCAGTGCCCA 0.647 NaN 0 0 0 1 0 26 45 PDE2A 5138 broad.mit.edu 37 11 72294523 72294523 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:72294523G>A uc010rrc.1 - 20 1930 c.1687C>T c.(1687-1689)CGC>TGC p.R563C PDE2A_uc001oso.2_Missense_Mutation_p.R542C|PDE2A_uc010rra.1_Missense_Mutation_p.R556C|PDE2A_uc001osn.2_Missense_Mutation_p.R307C|PDE2A_uc010rrb.1_Missense_Mutation_p.R554C|PDE2A_uc010rrd.1_Missense_Mutation_p.R448C NM_002599 NP_002590 O00408 PDE2A_HUMAN phosphodiesterase 2A isoform 1 563 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding ovary(2)|breast(1)|skin(1) 4 BRCA - Breast invasive adenocarcinoma(5;3.55e-05) Sildenafil(DB00203)|Sulindac(DB00605) AGGTGGCTGCGATACTGAGCC 0.537 NaN 0 0 0 1 0 31 80 ARAP1 116985 broad.mit.edu 37 11 72418254 72418254 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:72418254G>C uc001osu.2 - 12 1878 c.1689C>G c.(1687-1689)ATC>ATG p.I563M ARAP1_uc001osv.2_Missense_Mutation_p.I563M|ARAP1_uc001osr.2_Missense_Mutation_p.I323M|ARAP1_uc001oss.2_Missense_Mutation_p.I318M|ARAP1_uc009yth.2_Missense_Mutation_p.I318M|ARAP1_uc010rre.1_Missense_Mutation_p.I318M NM_001040118 NP_001035207 Q96P48 ARAP1_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH 563 C4-type.|Arf-GAP. actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction cytosol|Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding skin(1) 1 CACAGAGGTTGATGGAGGCCC 0.647 NaN 0 0 0 1 0 5 22 PRKRIR 5612 broad.mit.edu 37 11 76063335 76063335 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:76063335G>C uc001oxh.1 - 5 859 c.859C>G c.(859-861)CAT>GAT p.H287D PRKRIR_uc010rrz.1_Missense_Mutation_p.H112D NM_004705 NP_004696 O43422 P52K_HUMAN protein-kinase, interferon-inducible double 287 negative regulation of cell proliferation|response to stress|signal transduction DNA binding|metal ion binding|protein dimerization activity ovary(2)|pancreas(1) 3 CTTAGGTTATGAGATTCATCA 0.423 NaN 0 0 0 1 0 7 34 PRKRIR 5612 broad.mit.edu 37 11 76063340 76063340 + Missense_Mutation SNP T T C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:76063340T>C uc001oxh.1 - 5 854 c.854A>G c.(853-855)GAA>GGA p.E285G PRKRIR_uc010rrz.1_Missense_Mutation_p.E110G NM_004705 NP_004696 O43422 P52K_HUMAN protein-kinase, interferon-inducible double 285 negative regulation of cell proliferation|response to stress|signal transduction DNA binding|metal ion binding|protein dimerization activity ovary(2)|pancreas(1) 3 GTTATGAGATTCATCAACAAA 0.428 NaN 0 0 0 1 0 6 32 PRKRIR 5612 broad.mit.edu 37 11 76063502 76063502 + Nonsense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:76063502G>C uc001oxh.1 - 5 692 c.692C>G c.(691-693)TCA>TGA p.S231* PRKRIR_uc010rrz.1_Nonsense_Mutation_p.S56* NM_004705 NP_004696 O43422 P52K_HUMAN protein-kinase, interferon-inducible double 231 negative regulation of cell proliferation|response to stress|signal transduction DNA binding|metal ion binding|protein dimerization activity ovary(2)|pancreas(1) 3 CTGTGTTTTTGAACAAAACAA 0.438 NaN 0 0 0 1 0 11 32 NARS2 79731 broad.mit.edu 37 11 78177018 78177018 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:78177018C>T uc001ozi.2 - 11 1444 c.1068G>A c.(1066-1068)GTG>GTA p.V356V NARS2_uc010rsq.1_Silent_p.V129V NM_024678 NP_078954 Q96I59 SYNM_HUMAN asparaginyl-tRNA synthetase 2, mitochondrial 356 asparaginyl-tRNA aminoacylation mitochondrial matrix asparagine-tRNA ligase activity|ATP binding|nucleic acid binding ovary(2) 2 all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19) L-Asparagine(DB00174) CACAGTGCTTCACCAGGTACT 0.418 NaN 0 0 0 1 0 19 47 C11orf82 220042 broad.mit.edu 37 11 82644076 82644076 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:82644076G>A uc001ozt.2 + 6 1940 c.1696G>A c.(1696-1698)GAG>AAG p.E566K C11orf82_uc010rsr.1_Missense_Mutation_p.E265K|C11orf82_uc010rss.1_Missense_Mutation_p.E265K|C11orf82_uc009yvd.2_Intron NM_145018 NP_659455 Q8IXT1 NOXIN_HUMAN nitric oxide-inducible gene protein 566 apoptosis|cell cycle arrest cytoplasm|nucleus ovary(2) 2 ACCACACAGGGAGAGTGACCA 0.338 NaN 0 0 0 1 0 13 19 DLG2 1740 broad.mit.edu 37 11 83173066 83173066 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:83173066C>T uc001paj.2 - 22 2788 c.2485G>A c.(2485-2487)GAA>AAA p.E829K DLG2_uc001pai.2_Missense_Mutation_p.E708K|DLG2_uc010rsy.1_Missense_Mutation_p.E778K|DLG2_uc010rsz.1_Missense_Mutation_p.E825K|DLG2_uc010rta.1_Missense_Mutation_p.E811K|DLG2_uc001pak.2_Missense_Mutation_p.E934K|DLG2_uc010rtb.1_Missense_Mutation_p.E796K|DLG2_uc010rsw.1_Missense_Mutation_p.E293K|DLG2_uc010rsx.1_Missense_Mutation_p.E306K NM_001364 NP_001355 Q15700 DLG2_HUMAN chapsyn-110 isoform 2 829 Guanylate kinase-like. 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) TCTCCAAATTCTTGTTCTAGC 0.408 NaN 0 0 0 1 0 9 35 DLG2 1740 broad.mit.edu 37 11 83195218 83195218 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:83195218G>C uc001paj.2 - 17 2235 c.1932C>G c.(1930-1932)TTC>TTG p.F644L DLG2_uc001pai.2_Intron|DLG2_uc010rsy.1_Intron|DLG2_uc010rsz.1_Intron|DLG2_uc010rta.1_Intron|DLG2_uc001pak.2_Missense_Mutation_p.F749L|DLG2_uc010rtb.1_Missense_Mutation_p.F611L|DLG2_uc010rsw.1_Intron|DLG2_uc010rsx.1_Intron NM_001364 NP_001355 Q15700 DLG2_HUMAN chapsyn-110 isoform 2 644 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) TGTTCTTGTAGAATGGGAATT 0.393 NaN 0 0 0 1 0 20 85 CCDC89 220388 broad.mit.edu 37 11 85396921 85396921 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:85396921C>G uc001pau.1 - 1 400 c.253G>C c.(253-255)GAT>CAT p.D85H NM_152723 NP_689936 Q8N998 CCD89_HUMAN coiled-coil domain containing 89 85 Potential. cytoplasm|nucleus 0 Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572) AGGGCCTCATCTGACCTCCGC 0.592 NaN 0 0 0 1 0 22 59 CCDC67 159989 broad.mit.edu 37 11 93118581 93118581 + Silent SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:93118581C>G uc001pdq.2 + 8 907 c.807C>G c.(805-807)CTC>CTG p.L269L CCDC67_uc001pdo.1_Silent_p.L269L|CCDC67_uc001pdp.2_Silent_p.L269L NM_181645 NP_857596 Q05D60 CCD67_HUMAN coiled-coil domain containing 67 269 Potential. ovary(1) 1 Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824) AAGCAGGTCTCTCAGAGGTAA 0.313 NaN 0 0 0 1 0 8 36 MTMR2 8898 broad.mit.edu 37 11 95590723 95590723 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:95590723C>T uc001pfu.2 - 7 900 c.647G>A c.(646-648)AGA>AAA p.R216K MTMR2_uc001pfv.2_Missense_Mutation_p.R144K|MTMR2_uc001pfs.2_Missense_Mutation_p.R144K|MTMR2_uc001pft.2_Missense_Mutation_p.R144K|MTMR2_uc010ruj.1_Missense_Mutation_p.R199K NM_016156 NP_057240 Q13614 MTMR2_HUMAN myotubularin-related protein 2 isoform 1 216 Myotubularin phosphatase. nucleus inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity pancreas(1) 1 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) TACCTGCCTTCTATACTCTAA 0.338 NaN 0 0 0 1 0 5 24 MAML2 84441 broad.mit.edu 37 11 95826490 95826490 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:95826490C>G uc001pfw.1 - 2 1990 c.705G>C c.(703-705)ATG>ATC p.M235I NM_032427 NP_115803 Q8IZL2 MAML2_HUMAN mastermind-like 2 235 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity CRTC1/MAML2(516)|CRTC3/MAML2(26) salivary_gland(500)|lung(36)|thyroid(4)|breast(3)|skin(2)|ovary(1) 546 Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837) GTGCTTGGCTCATAGGCAAGG 0.468 NaN T MECT1|CRTC3 salivary gland mucoepidermoid 0 0 0 1 0 15 56 PGR 5241 broad.mit.edu 37 11 100998975 100998975 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:100998975G>A uc001pgh.2 - 1 1570 c.827C>T c.(826-828)TCA>TTA p.S276L PGR_uc001pgi.2_Missense_Mutation_p.S276L|PGR_uc009yww.1_RNA|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA|uc010rum.1_5'Flank NM_000926 NP_000917 P06401 PRGR_HUMAN progesterone receptor 276 Modulating, Pro-Rich. cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding lung(1)|liver(1)|central_nervous_system(1)|pancreas(1) 4 Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014) LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164) Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396) CCTGGGCGCTGAGAAGCGGGA 0.731 NaN 0 0 0 1 0 7 18 TMEM123 114908 broad.mit.edu 37 11 102272716 102272716 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:102272716G>C uc001pha.2 - 3 800 c.379C>G c.(379-381)CAG>GAG p.Q127E TMEM123_uc009yxc.2_Missense_Mutation_p.Q108E NM_052932 NP_443164 Q8N131 PORIM_HUMAN transmembrane protein 123 precursor 127 Thr-rich.|Extracellular (Potential). oncosis external side of plasma membrane|integral to membrane receptor activity breast(2) 2 all_cancers(8;0.00027)|all_epithelial(12;0.0021)|Lung NSC(15;0.227) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033) Epithelial(9;0.0314)|Lung(13;0.109)|all cancers(10;0.12)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0149) GTTGATATCTGAGATGTGTTC 0.388 NaN 0 0 0 1 0 39 100 MMP12 4321 broad.mit.edu 37 11 102742592 102742592 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:102742592C>G uc001phk.2 - 3 486 c.441G>C c.(439-441)TTG>TTC p.L147F NM_002426 NP_002417 P39900 MMP12_HUMAN matrix metalloproteinase 12 preproprotein 147 positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding 0 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) TGCTGAATTTCAAGGGGGTAA 0.418 NaN 0 0 0 1 0 9 19 KIAA1826 84437 broad.mit.edu 37 11 105880615 105880615 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:105880615C>T uc001piy.2 - 3 858 c.685G>A c.(685-687)GAA>AAA p.E229K KIAA1826_uc001piz.2_Missense_Mutation_p.E229K NM_032424 NP_115800 Q8NCY6 K1826_HUMAN hypothetical protein LOC84437 229 Potential. nucleus breast(1) 1 Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321) BRCA - Breast invasive adenocarcinoma(274;5.56e-05)|Epithelial(105;0.00432)|all cancers(92;0.0309) CGTTCCTTTTCTACCTGCAGC 0.463 NaN 0 0 0 1 0 17 85 GUCY1A2 2977 broad.mit.edu 37 11 106888480 106888480 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:106888480G>A uc001pjg.1 - 1 692 c.302C>T c.(301-303)TCG>TTG p.S101L GUCY1A2_uc010rvo.1_Missense_Mutation_p.S101L|GUCY1A2_uc009yxn.1_Missense_Mutation_p.S101L NM_000855 NP_000846 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 101 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding large_intestine(3)|lung(2)|pancreas(2)|ovary(1) 8 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) CCCGCTCACCGAGGGCGCCGT 0.662 NaN 0 0 0 1 0 6 11 ATM 472 broad.mit.edu 37 11 108192065 108192065 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 G C G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:108192065G>C uc001pkb.1 + 45 6875 c.6490G>C c.(6490-6492)GAG>CAG p.E2164Q ATM_uc009yxr.1_Missense_Mutation_p.E2164Q|C11orf65_uc010rvx.1_Intron|ATM_uc001pke.1_Missense_Mutation_p.E816Q|ATM_uc001pkg.1_Missense_Mutation_p.E521Q NM_000051 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated isoform 1 2164 FAT. E -> K (in T-prolymphocytic leukemia). cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding p.E2164K(1) haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1) 240 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) GCGCAGCCTTGAGTCTGTGTA 0.413 NaN D|Mis|N|F|S T-PLL leukemia|lymphoma|medulloblastoma|glioma Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Ataxia_Telangiectasia TSP Lung(14;0.12) 0 0 0 1 0 29 119 ATM 472 broad.mit.edu 37 11 108196791 108196791 + Nonsense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 G T G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:108196791G>T uc001pkb.1 + 47 7199 c.6814G>T c.(6814-6816)GAA>TAA p.E2272* ATM_uc009yxr.1_Nonsense_Mutation_p.E2272*|C11orf65_uc010rvx.1_Intron|ATM_uc001pke.1_Nonsense_Mutation_p.E924*|ATM_uc001pkg.1_Nonsense_Mutation_p.E629* NM_000051 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated isoform 1 2272 FAT. cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1) 240 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) TCAGCTCCCTGAAAGGGCAAT 0.338 NaN D|Mis|N|F|S T-PLL leukemia|lymphoma|medulloblastoma|glioma Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Ataxia_Telangiectasia TSP Lung(14;0.12) 1 0 0.00621372 1 0.00626926 8 34 EXPH5 23086 broad.mit.edu 37 11 108382527 108382527 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:108382527G>A uc001pkk.2 - 6 3818 c.3707C>T c.(3706-3708)TCT>TTT p.S1236F EXPH5_uc010rvy.1_Missense_Mutation_p.S1048F|EXPH5_uc010rvz.1_Missense_Mutation_p.S1080F|EXPH5_uc010rwa.1_Missense_Mutation_p.S1160F NM_015065 NP_055880 Q8NEV8 EXPH5_HUMAN exophilin 5 isoform a 1236 intracellular protein transport Rab GTPase binding skin(3)|ovary(2) 5 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) ACCAGAAACAGAAAACGTACT 0.373 NaN 0 0 0 1 0 19 61 DDX10 1662 broad.mit.edu 37 11 108547945 108547945 + Nonsense_Mutation SNP C C A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:108547945C>A uc001pkm.2 + 4 577 c.512C>A c.(511-513)TCA>TAA p.S171* DDX10_uc001pkl.1_Nonsense_Mutation_p.S171* NM_004398 NP_004389 Q13206 DDX10_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 171 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity breast(2)|lung(1)|prostate(1) 4 all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729) BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133) CATGACTTCTCAGCTGGTCTC 0.468 NaN T NUP98 AML* 1 0 1.06801e-11 1 1.11821e-11 29 111 DDX10 1662 broad.mit.edu 37 11 108811112 108811112 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:108811112G>A uc001pkm.2 + 18 2655 c.2590G>A c.(2590-2592)GAA>AAA p.E864K NM_004398 NP_004389 Q13206 DDX10_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 864 ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity breast(2)|lung(1)|prostate(1) 4 all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729) BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133) AGCAGAGGATGAAGAGCTGGT 0.478 NaN T NUP98 AML* 0 0 0 1 0 7 56 C11orf1 64776 broad.mit.edu 37 11 111754506 111754506 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:111754506G>A uc001pmd.2 + 4 692 c.355G>A c.(355-357)GAG>AAG p.E119K C11orf1_uc001pme.2_Missense_Mutation_p.E159K NM_022761 NP_073598 Q9H5F2 CK001_HUMAN hypothetical protein LOC64776 119 nucleus 0 all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|Medulloblastoma(222;0.0228)|all_neural(223;0.0281) all cancers(92;6.28e-09)|Epithelial(105;4.11e-08)|OV - Ovarian serous cystadenocarcinoma(223;1.52e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06) ATTTAAGCGAGAGCCTCACTG 0.393 NaN 0 0 0 1 0 17 49 DIXDC1 85458 broad.mit.edu 37 11 111888513 111888513 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:111888513G>A uc001pml.2 + 20 2172 c.1875G>A c.(1873-1875)GTG>GTA p.V625V DIXDC1_uc001pmm.2_Silent_p.V414V|DIXDC1_uc001pmn.2_Silent_p.V331V|DIXDC1_uc010rwq.1_Silent_p.V290V NM_001037954 NP_001033043 Q155Q3 DIXC1_HUMAN DIX domain containing 1 isoform a 625 DIX. multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytosol|focal adhesion actin binding|gamma-tubulin binding|signal transducer activity ovary(1) 1 all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548) TGGAGGAGGTGACGTTAAAGG 0.433 NaN 0 0 0 1 0 3 15 ZW10 9183 broad.mit.edu 37 11 113631013 113631013 + Silent SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:113631013G>C uc001poe.2 - 5 535 c.498C>G c.(496-498)CTC>CTG p.L166L ZW10_uc009yyv.2_RNA NM_004724 NP_004715 O43264 ZW10_HUMAN centromere/kinetochore protein zw10 166 Interaction with RINT1. cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole centromeric DNA binding|protein binding central_nervous_system(1)|skin(1) 2 all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786) TCTGTATTGTGAGCTCCATGC 0.393 NaN 0 0 0 1 0 11 41 NNMT 4837 broad.mit.edu 37 11 114168699 114168699 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:114168699G>A uc001por.1 + 4 445 c.181G>A c.(181-183)GAC>AAC p.D61N NNMT_uc001pos.1_Missense_Mutation_p.D61N NM_006169 NP_006160 P40261 NNMT_HUMAN nicotinamide N-methyltransferase 61 xenobiotic metabolic process cytosol nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity ovary(1) 1 all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906) BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128) Niacin(DB00627) CCTGCTGATTGACATCGGCTC 0.507 NaN 0 0 0 1 0 15 85 CEP164 22897 broad.mit.edu 37 11 117244524 117244524 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:117244524G>A uc001prc.2 + 10 1357 c.1210G>A c.(1210-1212)GAC>AAC p.D404N CEP164_uc001prb.2_Missense_Mutation_p.D404N|CEP164_uc010rxk.1_Missense_Mutation_p.D378N|CEP164_uc001prf.2_RNA|CEP164_uc009yzp.1_RNA NM_014956 NP_055771 Q9UPV0 CE164_HUMAN centrosomal protein 164kDa 404 cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis centriole|cytosol|nucleus ovary(1)|central_nervous_system(1) 2 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008) CATAGCTTCTGACCCCAAGTC 0.343 NaN 0 0 0 1 0 24 54 DSCAML1 57453 broad.mit.edu 37 11 117308767 117308767 + Missense_Mutation SNP C C G rs140883925 TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:117308767C>G uc001prh.1 - 25 4458 c.4456G>C c.(4456-4458)GAG>CAG p.E1486Q NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1426 Fibronectin type-III 5.|Extracellular (Potential). axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) TTCCACTCCTCGCTGTTGTCC 0.602 NaN 0 0 0 1 0 17 43 TMPRSS4 56649 broad.mit.edu 37 11 117988106 117988106 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:117988106G>A uc010rxo.1 + 12 1530 c.1239G>A c.(1237-1239)CCG>CCA p.P413P TMPRSS4_uc010rxp.1_Silent_p.P408P|TMPRSS4_uc010rxq.1_Silent_p.P266P|TMPRSS4_uc010rxr.1_Silent_p.P388P|TMPRSS4_uc010rxs.1_Silent_p.P373P|TMPRSS4_uc009yzu.2_RNA|TMPRSS4_uc010rxt.1_Silent_p.P388P NM_019894 NP_063947 Q9NRS4 TMPS4_HUMAN transmembrane protease, serine 4 isoform 1 413 Extracellular (Potential).|Peptidase S1. proteolysis integral to membrane scavenger receptor activity|serine-type endopeptidase activity large_intestine(1)|central_nervous_system(1) 2 all_hematologic(175;0.0487) Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238) BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204) GCGGGGGCCCGAGCACCCCAG 0.572 NaN 0 0 0 1 0 48 163 ZNF202 7753 broad.mit.edu 37 11 123597521 123597521 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:123597521C>T uc001pzd.1 - 9 1531 c.1131G>A c.(1129-1131)GTG>GTA p.V377V ZNF202_uc001pzc.1_Silent_p.V153V|ZNF202_uc001pze.1_Silent_p.V377V|ZNF202_uc001pzf.1_Silent_p.V377V NM_003455 NP_003446 O95125 ZN202_HUMAN zinc finger protein 202 377 lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03) CAAAACTATTCACTTGAGAAA 0.433 NaN 0 0 0 1 0 21 107 ROBO4 54538 broad.mit.edu 37 11 124766975 124766975 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:124766975C>G uc001qbg.2 - 2 393 c.253G>C c.(253-255)GAT>CAT p.D85H ROBO4_uc010sas.1_Intron|ROBO4_uc001qbh.2_Intron|ROBO4_uc010sat.1_5'Flank NM_019055 NP_061928 Q8WZ75 ROBO4_HUMAN roundabout homolog 4, magic roundabout 85 Ig-like C2-type 1. angiogenesis|cell differentiation integral to membrane receptor activity ovary(1)|skin(1) 2 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) AGGGTCCCATCAGGCAGGAGG 0.657 NaN 0 0 0 1 0 7 31 SRPR 6734 broad.mit.edu 37 11 126137185 126137185 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:126137185C>G uc001qdh.2 - 4 462 c.411G>C c.(409-411)AAG>AAC p.K137N SRPR_uc010sbm.1_Missense_Mutation_p.K109N|FOXRED1_uc001qdi.2_5'Flank|FOXRED1_uc010sbn.1_5'Flank|FOXRED1_uc010sbo.1_5'Flank|FOXRED1_uc010sbp.1_5'Flank|FOXRED1_uc010sbq.1_5'Flank|FOXRED1_uc001qdj.2_5'Flank|FOXRED1_uc010sbr.1_5'Flank NM_003139 NP_003130 P08240 SRPR_HUMAN signal recognition particle receptor 137 SRP-dependent cotranslational protein targeting to membrane integral to membrane|signal recognition particle receptor complex GTP binding|GTPase activity|receptor activity|signal recognition particle binding 0 all_hematologic(175;0.145) BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736) CTTCAAATTTCTTCATGGTAG 0.418 NaN 0 0 0 1 0 47 125 FOXRED1 55572 broad.mit.edu 37 11 126142911 126142911 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:126142911G>A uc001qdi.2 + 3 401 c.354G>A c.(352-354)CAG>CAA p.Q118Q FOXRED1_uc010sbn.1_5'UTR|FOXRED1_uc010sbo.1_RNA|FOXRED1_uc010sbp.1_5'UTR|FOXRED1_uc010sbq.1_5'UTR|FOXRED1_uc001qdj.2_5'UTR|FOXRED1_uc010sbr.1_Silent_p.Q104Q|FOXRED1_uc001qdk.2_5'UTR NM_017547 NP_060017 Q96CU9 FXRD1_HUMAN FAD-dependent oxidoreductase domain containing 118 integral to membrane|mitochondrion oxidoreductase activity|protein binding 0 all_hematologic(175;0.145) Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729) TTTGTCAGCAGTTCTCATTGC 0.483 NaN 0 0 0 1 0 25 76 NFRKB 4798 broad.mit.edu 37 11 129744722 129744722 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:129744722G>A uc001qfi.2 - 19 2145 c.1944C>T c.(1942-1944)ATC>ATT p.I648I NFRKB_uc001qfg.2_Silent_p.I673I|NFRKB_uc001qfh.2_Silent_p.I671I|NFRKB_uc010sbw.1_Silent_p.I658I|NFRKB_uc009zcr.2_5'UTR NM_001143835 NP_001137307 Q6P4R8 NFRKB_HUMAN nuclear factor related to kappaB binding protein 648 DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Ino80 complex DNA binding|protease binding ovary(3) 3 all_hematologic(175;0.0537) Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184) GATGCAGGTAGATCCACAGCT 0.488 NaN 0 0 0 1 0 45 147 B3GAT1 27087 broad.mit.edu 37 11 134252640 134252640 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:134252640G>A uc001qhq.2 - 5 1143 c.882C>T c.(880-882)CTC>CTT p.L294L B3GAT1_uc001qhr.2_Silent_p.L294L|B3GAT1_uc010scv.1_Silent_p.L307L NM_018644 NP_061114 Q9P2W7 B3GA1_HUMAN beta-1,3-glucuronyltransferase 1 294 Lumenal (Potential). carbohydrate metabolic process Golgi membrane|integral to membrane galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding ovary(1) 1 all_hematologic(175;0.127) all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559) Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864) CCAGGTCGTTGAGGGTGACAA 0.572 NaN 0 0 0 1 0 15 64 CCDC77 84318 broad.mit.edu 37 12 549890 549890 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:549890G>A uc001qig.2 + 11 1329 c.1149G>A c.(1147-1149)ATG>ATA p.M383I CCDC77_uc009zdk.2_Missense_Mutation_p.M351I|CCDC77_uc010sdp.1_Missense_Mutation_p.M351I|CCDC77_uc010sdq.1_Missense_Mutation_p.M351I NM_032358 NP_115734 Q9BR77 CCD77_HUMAN coiled-coil domain containing 77 isoform a 383 Potential. centrosome ovary(1) 1 all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156) OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033) AAGAGGGAATGAGGAGAGAGA 0.438 NaN 0 0 0 1 0 12 45 WNK1 65125 broad.mit.edu 37 12 1005785 1005785 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:1005785G>C uc001qio.3 + 24 6639 c.6132G>C c.(6130-6132)CAG>CAC p.Q2044H WNK1_uc001qip.3_Missense_Mutation_p.Q1796H|WNK1_uc001qir.3_Missense_Mutation_p.Q1217H NM_018979 NP_061852 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 2044 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1) 23 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) TTCCTAGCCAGAATCTAAGTC 0.463 NaN 0 0 0 1 0 12 41 DCP1B 196513 broad.mit.edu 37 12 2113469 2113469 + Missense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:2113469G>T uc001qjx.1 - 1 209 c.129C>A c.(127-129)TTC>TTA p.F43L DCP1B_uc010sdy.1_5'UTR|DCP1B_uc010sdz.1_Missense_Mutation_p.F43L NM_152640 NP_689853 Q8IZD4 DCP1B_HUMAN decapping enzyme Dcp1b 43 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|nucleus hydrolase activity|protein binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(31;0.00193) CCCGATGGCCGAAGGTGTACA 0.682 NaN 1 0 4.68919e-08 1 4.86744e-08 11 43 CACNA1C 775 broad.mit.edu 37 12 2224703 2224703 + Silent SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:2224703C>G uc009zdu.1 + 2 676 c.363C>G c.(361-363)GTC>GTG p.V121V CACNA1C_uc009zdv.1_Silent_p.V121V|CACNA1C_uc001qkb.2_Silent_p.V121V|CACNA1C_uc001qkc.2_Silent_p.V121V|CACNA1C_uc001qke.2_Silent_p.V121V|CACNA1C_uc001qkf.2_Silent_p.V121V|CACNA1C_uc001qjz.2_Silent_p.V121V|CACNA1C_uc001qkd.2_Silent_p.V121V|CACNA1C_uc001qkg.2_Silent_p.V121V|CACNA1C_uc009zdw.1_Silent_p.V121V|CACNA1C_uc001qkh.2_Silent_p.V121V|CACNA1C_uc001qkl.2_Silent_p.V121V|CACNA1C_uc001qkn.2_Silent_p.V121V|CACNA1C_uc001qko.2_Silent_p.V121V|CACNA1C_uc001qkp.2_Silent_p.V121V|CACNA1C_uc001qkr.2_Silent_p.V121V|CACNA1C_uc001qku.2_Silent_p.V121V|CACNA1C_uc001qkq.2_Silent_p.V121V|CACNA1C_uc001qks.2_Silent_p.V121V|CACNA1C_uc001qkt.2_Silent_p.V121V NM_199460 NP_955630 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, 121 Cytoplasmic (Potential).|I. axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity ovary(10)|central_nervous_system(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) TCAGCATTGTCGAATGGAAAT 0.647 NaN 0 0 0 1 0 20 77 GPR162 27239 broad.mit.edu 37 12 6933172 6933172 + Silent SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:6933172C>G uc001qqw.1 + 2 643 c.108C>G c.(106-108)CTC>CTG p.L36L GPR162_uc010sfn.1_Silent_p.L36L|GPR162_uc001qqx.1_Intron|GPR162_uc009zfd.1_Intron|GPR162_uc001qqy.1_5'Flank NM_019858 NP_062832 Q16538 GP162_HUMAN G protein-coupled receptor 162 isoform 2 36 Helical; Name=1; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 GGATCATCCTCAGCATCTCGG 0.657 NaN 0 0 0 1 0 15 34 TAS2R43 259289 broad.mit.edu 37 12 11244734 11244734 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:11244734G>A uc001qzq.1 - 1 179 c.95C>T c.(94-96)TCC>TTC p.S32F PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron NM_176884 NP_795365 P59537 T2R43_HUMAN taste receptor, type 2, member 43 32 Cytoplasmic (Potential). detection of chemical stimulus involved in sensory perception of bitter taste cilium membrane|motile cilium bitter taste receptor activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(49;0.0344) BRCA - Breast invasive adenocarcinoma(232;0.196) CCACTCAATGGAATTTACCAG 0.388 NaN 0 0 0 1 0 12 52 ETV6 2120 broad.mit.edu 37 12 12022357 12022357 + Splice_Site SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:12022357G>T uc001qzz.2 + 5 738 c.464_splice c.e5-1 p.D155_splice ETV6_uc001raa.1_5'Flank NM_001987 NP_001978 P41212 ETV6_HUMAN ets variant 6 cytoplasm|nucleolus protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ETV6/NTRK3(234)|ETV6/JAK2(11) soft_tissue(85)|kidney(66)|breast(55)|salivary_gland(26)|haematopoietic_and_lymphoid_tissue(13)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)|pancreas(1) 250 all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36) CTGCTCCACAGATAACTGTGT 0.552 NaN T NTRK3|RUNX1|PDGFRB|ABL1|MN1|ABL2|FACL6|CHIC2|ARNT|JAK2|EVI1|CDX2|STL|HLXB9|MDS2|PER1|SYK|TTL|FGFR3|PAX5 congenital fibrosarcoma|multiple leukemia and lymphoma| secretory breast|MDS|ALL 1 0 4.14481e-20 1 4.40223e-20 38 130 GRIN2B 2904 broad.mit.edu 37 12 13769390 13769390 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:13769390C>T uc001rbt.2 - 5 1506 c.1327G>A c.(1327-1329)GAG>AAG p.E443K NM_000834 NP_000825 Q13224 NMDE2_HUMAN N-methyl-D-aspartate receptor subunit 2B 443 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding central_nervous_system(4)|ovary(3)|skin(3)|lung(2) 12 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) ATGCCATACTCAGTGACTATG 0.527 NaN 0 0 0 1 0 16 50 ERP27 121506 broad.mit.edu 37 12 15068615 15068615 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:15068615G>A uc001rco.2 - 6 603 c.582C>T c.(580-582)CTC>CTT p.L194L NM_152321 NP_689534 Q96DN0 ERP27_HUMAN endoplasmic reticulum protein 27 kDa precursor 194 endoplasmic reticulum lumen breast(1) 1 CCAGAATAAAGAGAATCTGCA 0.403 NaN 0 0 0 1 0 11 41 C12orf11 55726 broad.mit.edu 37 12 27066474 27066474 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:27066474C>T uc001rhk.3 - 14 2258 c.1721G>A c.(1720-1722)GGA>GAA p.G574E C12orf11_uc001rhj.3_Missense_Mutation_p.G142E|C12orf11_uc010sjk.1_Missense_Mutation_p.G473E NM_018164 NP_060634 Q9NVM9 M89BB_HUMAN hypothetical protein LOC55726 574 Potential. cell division|mitosis|regulation of mitotic cell cycle protein binding large_intestine(1)|ovary(1)|central_nervous_system(1) 3 Colorectal(261;0.0847) CCTCTTTCTTCCTCGTTTCTT 0.448 NaN 0 0 0 1 0 67 234 ARNTL2 56938 broad.mit.edu 37 12 27543128 27543128 + Missense_Mutation SNP C C A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:27543128C>A uc001rht.1 + 9 893 c.875C>A c.(874-876)TCT>TAT p.S292Y ARNTL2_uc001rhw.2_Missense_Mutation_p.S255Y|ARNTL2_uc010sjp.1_Missense_Mutation_p.S255Y|ARNTL2_uc001rhu.1_Missense_Mutation_p.S278Y|ARNTL2_uc009zji.1_Missense_Mutation_p.S258Y|ARNTL2_uc001rhv.1_Missense_Mutation_p.S244Y|uc001rhx.2_Intron NM_020183 NP_064568 Q8WYA1 BMAL2_HUMAN aryl hydrocarbon receptor nuclear 292 circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(1)|skin(1) 2 Colorectal(261;0.0847)|Lung SC(9;0.184) TGTAAAATCTCTGTCAAAGAA 0.393 NaN 1 0 3.99206e-14 1 4.2057e-14 19 64 ARNTL2 56938 broad.mit.edu 37 12 27553558 27553558 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:27553558G>A uc001rht.1 + 10 1029 c.1011G>A c.(1009-1011)AAG>AAA p.K337K ARNTL2_uc001rhw.2_Silent_p.K300K|ARNTL2_uc010sjp.1_Silent_p.K300K|ARNTL2_uc001rhu.1_Silent_p.K323K|ARNTL2_uc009zji.1_Silent_p.K303K|ARNTL2_uc001rhv.1_Silent_p.K289K|uc001rhx.2_Intron NM_020183 NP_064568 Q8WYA1 BMAL2_HUMAN aryl hydrocarbon receptor nuclear 337 circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(1)|skin(1) 2 Colorectal(261;0.0847)|Lung SC(9;0.184) GGAACAGTAAGAAAGACAACA 0.378 NaN 0 0 0 1 0 23 50 C12orf40 283461 broad.mit.edu 37 12 40037702 40037702 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:40037702G>C uc001rmc.2 + 3 352 c.185G>C c.(184-186)TGC>TCC p.C62S C12orf40_uc009zjv.1_Intron NM_001031748 NP_001026918 Q86WS4 CL040_HUMAN hypothetical protein LOC283461 62 ovary(6) 6 CAGATATCTTGCAAGAAGAAA 0.294 NaN 0 0 0 1 0 7 38 ADAMTS20 80070 broad.mit.edu 37 12 43826205 43826205 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:43826205G>A uc010skx.1 - 21 2998 c.2998C>T c.(2998-3000)CGT>TGT p.R1000C ADAMTS20_uc001rno.1_Missense_Mutation_p.R154C|ADAMTS20_uc001rnp.1_Missense_Mutation_p.R154C NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 1000 TSP type-1 4. proteinaceous extracellular matrix zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1) 19 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) TCAGCAAGACGATGGCCAAAG 0.433 NaN 0 0 0 1 0 18 70 LALBA 3906 broad.mit.edu 37 12 48962944 48962944 + Silent SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:48962944G>C uc001rrt.2 - 2 239 c.213C>G c.(211-213)CTC>CTG p.L71L NM_002289 NP_002280 P00709 LALBA_HUMAN lactalbumin, alpha- precursor 71 cell-cell signaling|defense response to bacterium|induction of apoptosis|lactose biosynthetic process|signal transduction extracellular space calcium ion binding|lactose synthase activity 0 TGATCTGGAAGAGTCCATATT 0.453 NaN 0 0 0 1 0 18 65 CCNT1 904 broad.mit.edu 37 12 49087241 49087241 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:49087241C>G uc001rse.1 - 9 2079 c.1756G>C c.(1756-1758)GAT>CAT p.D586H LOC144438_uc001rsd.3_5'Flank|CCNT1_uc009zkz.1_Missense_Mutation_p.D301H NM_001240 NP_001231 O60563 CCNT1_HUMAN cyclin T1 586 Ser-rich. cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm DNA binding|protein kinase binding ovary(3)|lung(1)|breast(1)|skin(1) 6 GCTGGATGATCAAACACAGCC 0.453 NaN 0 0 0 1 0 21 61 ADCY6 112 broad.mit.edu 37 12 49164698 49164698 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:49164698G>A uc001rsh.3 - 19 3767 c.3107C>T c.(3106-3108)ACC>ATC p.T1036I ADCY6_uc001rsj.3_Missense_Mutation_p.T1036I|ADCY6_uc001rsi.3_Missense_Mutation_p.T983I|ADCY6_uc010slw.1_3'UTR NM_015270 NP_056085 O43306 ADCY6_HUMAN adenylate cyclase 6 isoform a 1036 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane ATP binding|metal ion binding 0 AGCCATGTAGGTGCTACCAAT 0.582 NaN 0 0 0 1 0 30 74 ARF3 377 broad.mit.edu 37 12 49334843 49334843 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:49334843C>T uc001rsr.2 - 2 289 c.36G>A c.(34-36)CTG>CTA p.L12L ARF3_uc010smc.1_Silent_p.L12L NM_001659 NP_001650 P61204 ARF3_HUMAN ADP-ribosylation factor 3 12 protein transport|small GTPase mediated signal transduction|vesicle-mediated transport Golgi apparatus|perinuclear region of cytoplasm GTP binding|GTPase activity 0 TCTTCCCAATCAGGCTCTTGA 0.547 NaN 0 0 0 1 0 53 191 PRKAG1 5571 broad.mit.edu 37 12 49406883 49406883 + Nonsense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:49406883G>C uc001rsy.2 - 2 89 c.20C>G c.(19-21)TCA>TGA p.S7* uc001rsw.2_Intron|PRKAG1_uc010smd.1_5'UTR|PRKAG1_uc001rsx.2_5'UTR|PRKAG1_uc001rsz.2_Nonsense_Mutation_p.S7*|PRKAG1_uc009zlb.2_5'UTR|PRKAG1_uc010sme.1_Nonsense_Mutation_p.S7* NM_002733 NP_002724 P54619 AAKG1_HUMAN AMP-activated protein kinase, noncatalytic 7 cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|positive regulation of protein kinase activity|regulation of fatty acid oxidation|regulation of glycolysis|spermatogenesis cytosol cAMP-dependent protein kinase activity|cAMP-dependent protein kinase regulator activity|protein kinase binding kidney(1) 1 GGAGCTATCTGAAGAAATGAC 0.423 NaN 0 0 0 1 0 10 48 MLL2 8085 broad.mit.edu 37 12 49427438 49427438 + Nonsense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 G A G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:49427438G>A uc001rta.3 - 39 11050 c.11050C>T c.(11050-11052)CAA>TAA p.Q3684* NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 3684 Gln-rich. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 CCAGAATGTTGCTGTTGCTGC 0.597 NaN N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 0 0 0 1 0 33 112 DHH 50846 broad.mit.edu 37 12 49485101 49485101 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:49485101C>T uc001rtf.2 - 2 682 c.375G>A c.(373-375)GTG>GTA p.V125V NM_021044 NP_066382 O43323 DHH_HUMAN desert hedgehog preproprotein 125 cell-cell signaling|proteolysis extracellular space|plasma membrane calcium ion binding|peptidase activity|zinc ion binding lung(1)|breast(1) 2 AGCCCTCAGTCACTCGTAGGC 0.597 NaN 0 0 0 1 0 32 76 PRPH 5630 broad.mit.edu 37 12 49689307 49689307 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:49689307C>T uc001rtu.2 + 1 399 c.324C>T c.(322-324)TTC>TTT p.F108F NM_006262 NP_006253 P41219 PERI_HUMAN peripherin 108 Coil 1A.|Rod. structural molecule activity 0 ACGACCGCTTCGCCAACTTCA 0.682 NaN 0 0 0 1 0 8 13 MCRS1 10445 broad.mit.edu 37 12 49952459 49952459 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:49952459G>C uc001ruk.1 - 15 1547 c.1356C>G c.(1354-1356)ATC>ATG p.I452M MCRS1_uc001rui.1_Missense_Mutation_p.I465M|MCRS1_uc001ruj.1_Missense_Mutation_p.I439M|MCRS1_uc001rul.1_Missense_Mutation_p.I452M|MCRS1_uc009zlj.1_Missense_Mutation_p.I261M|MCRS1_uc001rum.1_Missense_Mutation_p.I439M NM_006337 NP_006328 Q96EZ8 MCRS1_HUMAN microspherule protein 1 isoform 1 452 DNA recombination|DNA repair|protein modification process|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|Ino80 complex|MLL1 complex|nucleolus protein binding large_intestine(1) 1 CCTCAGCCCTGATGAGGGCAA 0.607 NaN 0 0 0 1 0 18 71 PRPF40B 25766 broad.mit.edu 37 12 50035705 50035705 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:50035705C>T uc001rur.1 + 18 1780 c.1716C>T c.(1714-1716)TGC>TGT p.C572C FMNL3_uc001ruv.1_3'UTR|FMNL3_uc001ruw.1_3'UTR|PRPF40B_uc001rup.1_Silent_p.C594C|PRPF40B_uc001ruq.1_Intron|PRPF40B_uc001rus.1_Silent_p.C515C|FMNL3_uc001rut.1_3'UTR|FMNL3_uc001ruu.1_3'UTR NM_001031698 NP_001026868 Q6NWY9 PR40B_HUMAN Huntingtin interacting protein C isoform 1 572 mRNA processing|RNA splicing nuclear speck skin(2)|ovary(1)|pancreas(1)|kidney(1) 5 GGGGCTTCTGCGTGGAGGTGA 0.577 NaN 0 0 0 1 0 19 79 ACCN2 41 broad.mit.edu 37 12 50453669 50453669 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:50453669G>A uc001rvw.2 + 3 719 c.490G>A c.(490-492)GAC>AAC p.D164N ACCN2_uc001rvv.2_Missense_Mutation_p.D164N|ACCN2_uc009zln.2_5'UTR|ACCN2_uc009zlo.2_Missense_Mutation_p.D164N NM_001095 NP_001086 P78348 ACCN2_HUMAN amiloride-sensitive cation channel 2, neuronal 164 Extracellular (By similarity). calcium ion transport|response to pH|signal transduction integral to plasma membrane ligand-gated sodium channel activity|protein binding ovary(1) 1 Amiloride(DB00594) AGCTGGGCACGACATTCGAGA 0.567 NaN 0 0 0 1 0 10 40 GALNT6 11226 broad.mit.edu 37 12 51773340 51773340 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:51773340G>C uc001ryk.2 - 2 451 c.226C>G c.(226-228)CCA>GCA p.P76A GALNT6_uc009zma.1_RNA|GALNT6_uc001ryl.1_Missense_Mutation_p.P76A|GALNT6_uc010snh.1_Missense_Mutation_p.P76A NM_007210 NP_009141 Q8NCL4 GALT6_HUMAN polypeptide N-acetylgalactosaminyltransferase 6 76 Lumenal (Potential). protein O-linked glycosylation Golgi membrane|integral to membrane|perinuclear region of cytoplasm polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2) 2 TGGGCTTCTGGAGCCCTGATT 0.562 NaN 0 0 0 1 0 42 91 KRT6C 286887 broad.mit.edu 37 12 52865855 52865855 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:52865855C>T uc001sal.3 - 2 798 c.750G>A c.(748-750)AAG>AAA p.K250K NM_173086 NP_775109 P48668 K2C6C_HUMAN keratin 6C 250 Coil 1B.|Rod. cytoskeleton organization keratin filament structural molecule activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(357;0.0828) CTCACTTGTTCTTGAGGTCCT 0.547 NaN 0 0 0 1 0 28 97 PCBP2 5094 broad.mit.edu 37 12 53858606 53858606 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:53858606C>T uc001sdl.3 + 9 1004 c.654C>T c.(652-654)CTC>CTT p.L218L PCBP2_uc001sdc.3_Silent_p.L218L|PCBP2_uc001sdb.3_Silent_p.L214L|PCBP2_uc001sde.3_Silent_p.L214L|PCBP2_uc001sdi.3_Intron|PCBP2_uc001sdd.3_Intron|PCBP2_uc001sdf.3_Intron|PCBP2_uc009zna.2_Silent_p.L175L|PCBP2_uc010soi.1_Intron|PCBP2_uc001sdj.3_Intron|PCBP2_uc010soj.1_Intron|PCBP2_uc001sdk.3_Silent_p.L3L|PCBP2_uc010soh.1_Silent_p.L214L NM_001128911 NP_001122383 Q15366 PCBP2_HUMAN poly(rC) binding protein 2 isoform d 218 innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus cytosol|nucleoplasm|ribonucleoprotein complex DNA binding|RNA binding|ubiquitin protein ligase binding 0 ccatgtgcctcaaccctgacc 0 NaN 0 0 0 1 0 20 60 GPR84 53831 broad.mit.edu 37 12 54756722 54756722 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:54756722C>T uc001sfu.2 - 2 1004 c.914G>A c.(913-915)AGA>AAA p.R305K NM_020370 NP_065103 Q9NQS5 GPR84_HUMAN G protein-coupled receptor 84 305 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity breast(2) 2 CGGAGCTCTTCTGGCTCCTTT 0.507 NaN 0 0 0 1 0 50 147 OR6C74 254783 broad.mit.edu 37 12 55641610 55641610 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:55641610C>G uc010spg.1 + 1 539 c.539C>G c.(538-540)TCT>TGT p.S180C NM_001005490 NP_001005490 A6NCV1 O6C74_HUMAN olfactory receptor, family 6, subfamily C, 180 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 TGTGATGTTTCTCCTATACTG 0.433 NaN 0 0 0 1 0 20 79 SILV 6490 broad.mit.edu 37 12 56349424 56349424 + Nonsense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:56349424G>C uc001sip.2 - 9 1617 c.1586C>G c.(1585-1587)TCA>TGA p.S529* SILV_uc001siq.2_Nonsense_Mutation_p.S529*|SILV_uc010spx.1_Nonsense_Mutation_p.S443*|SILV_uc001sir.2_Nonsense_Mutation_p.S529* NM_006928 NP_008859 P40967 PMEL_HUMAN silver homolog 529 Lumenal (Potential). melanin biosynthetic process|melanosome organization endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane protein binding 0 CCCTGGCGATGAGATCTCCAT 0.597 NaN 0 0 0 1 0 16 86 SILV 6490 broad.mit.edu 37 12 56349603 56349603 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:56349603C>T uc001sip.2 - 8 1547 c.1516G>A c.(1516-1518)GAG>AAG p.E506K SILV_uc001siq.2_Missense_Mutation_p.E506K|SILV_uc010spx.1_Missense_Mutation_p.E420K|SILV_uc001sir.2_Missense_Mutation_p.E506K NM_006928 NP_008859 P40967 PMEL_HUMAN silver homolog 506 Lumenal (Potential). melanin biosynthetic process|melanosome organization endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane protein binding 0 GCATCCCCCTCACCGGACGGC 0.537 NaN OREG0021914 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 1 0 19 71 PAN2 9924 broad.mit.edu 37 12 56722102 56722102 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:56722102C>T uc001skx.2 - 4 866 c.493G>A c.(493-495)GAC>AAC p.D165N PAN2_uc001skz.2_Missense_Mutation_p.D165N|PAN2_uc001sky.2_Missense_Mutation_p.D165N NM_001127460 NP_001120932 Q504Q3 PAN2_HUMAN PAN2 polyA specific ribonuclease subunit homolog 165 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process cytosol|nucleus nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity ovary(2)|skin(2)|large_intestine(1)|breast(1) 6 GTGCTGCTGTCAGTCAGTAGG 0.512 NaN 0 0 0 1 0 50 130 HSD17B6 8630 broad.mit.edu 37 12 57181045 57181045 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:57181045C>T uc001smg.1 + 5 983 c.873C>T c.(871-873)TTC>TTT p.F291F NM_003725 NP_003716 O14756 H17B6_HUMAN hydroxysteroid (17-beta) dehydrogenase 6 291 androgen biosynthetic process|androgen catabolic process early endosome membrane|endoplasmic reticulum|microsome binding|electron carrier activity|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity upper_aerodigestive_tract(1)|pancreas(1) 2 Succinic acid(DB00139) AATTTTTCTTCATCCCTCTAT 0.473 NaN 0 0 0 1 0 11 46 HELB 92797 broad.mit.edu 37 12 66718772 66718772 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:66718772G>A uc001sti.2 + 11 2564 c.2536G>A c.(2536-2538)GAT>AAT p.D846N HELB_uc010ssz.1_RNA|HELB_uc009zqt.1_RNA NM_033647 NP_387467 Q8NG08 HELB_HUMAN helicase (DNA) B 846 DNA replication, synthesis of RNA primer ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity central_nervous_system(1)|pancreas(1) 2 GBM - Glioblastoma multiforme(2;0.000142) GBM - Glioblastoma multiforme(28;0.0265) GGATGTAACTGATGTAACTTT 0.328 NaN 0 0 0 1 0 18 56 NAV3 89795 broad.mit.edu 37 12 78569172 78569172 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:78569172G>C uc001syp.2 + 25 5241 c.5068G>C c.(5068-5070)GAT>CAT p.D1690H NAV3_uc001syo.2_Missense_Mutation_p.D1690H|NAV3_uc010sub.1_Missense_Mutation_p.D1176H|NAV3_uc009zsf.2_Missense_Mutation_p.D521H NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 1690 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 CAGTGGTAATGATGCCGACTC 0.398 NaN HNSCC(70;0.22) 0 0 0 1 0 6 46 MGAT4C 25834 broad.mit.edu 37 12 86373294 86373294 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:86373294C>G uc001tai.3 - 8 2460 c.1210G>C c.(1210-1212)GAT>CAT p.D404H MGAT4C_uc001tal.3_Missense_Mutation_p.D404H|MGAT4C_uc001taj.3_Missense_Mutation_p.D404H|MGAT4C_uc001tak.3_Missense_Mutation_p.D404H|MGAT4C_uc010sum.1_Missense_Mutation_p.D428H|MGAT4C_uc001tah.3_Missense_Mutation_p.D404H NM_013244 NP_037376 Q9UBM8 MGT4C_HUMAN alpha-1,3-mannosyl-glycoprotein 404 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding ovary(3) 3 TGCAAAATATCATTTTGCCGA 0.328 NaN 0 0 0 1 0 14 28 C12orf63 374467 broad.mit.edu 37 12 97157951 97157951 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:97157951C>T uc001tet.1 + 26 3416 c.3338C>T c.(3337-3339)TCT>TTT p.S1113F NM_198520 NP_940922 Q6ZTY8 CL063_HUMAN hypothetical protein LOC374467 1113 skin(6)|ovary(1) 7 AGAAGTAGTTCTGTTAAAGAA 0.328 NaN 0 0 0 1 0 4 22 ACTR6 64431 broad.mit.edu 37 12 100612202 100612202 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:100612202G>A uc001thb.1 + 9 816 c.760G>A c.(760-762)GAG>AAG p.E254K ACTR6_uc001thc.1_Missense_Mutation_p.E146K|ACTR6_uc001thd.1_Missense_Mutation_p.E254K|ACTR6_uc009ztu.1_Missense_Mutation_p.E59K|ACTR6_uc001the.1_Missense_Mutation_p.E172K|ACTR6_uc001thf.1_Missense_Mutation_p.E172K|uc001thg.1_Intron NM_022496 NP_071941 Q9GZN1 ARP6_HUMAN ARP6 actin-related protein 6 homolog 254 cytoplasm|cytoskeleton ovary(1) 1 GCCAAGGGAAGAGATGGTGTT 0.294 NaN 0 0 0 1 0 7 55 UTP20 27340 broad.mit.edu 37 12 101684562 101684562 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:101684562C>G uc001tia.1 + 8 943 c.787C>G c.(787-789)CAA>GAA p.Q263E UTP20_uc009ztz.1_Missense_Mutation_p.Q263E NM_014503 NP_055318 O75691 UTP20_HUMAN down-regulated in metastasis 263 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding ovary(2)|breast(2) 4 AACAGAAACTCAACTACCATG 0.343 NaN 0 0 0 1 0 17 58 TDG 6996 broad.mit.edu 37 12 104377149 104377149 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:104377149G>C uc001tkg.2 + 7 997 c.774G>C c.(772-774)AAG>AAC p.K258N TDG_uc009zuk.2_Missense_Mutation_p.K254N|TDG_uc010swi.1_Missense_Mutation_p.K115N|TDG_uc010swj.1_Missense_Mutation_p.K46N NM_003211 NP_003202 Q13569 TDG_HUMAN thymine-DNA glycosylase 258 depyrimidination|mismatch repair nucleoplasm damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity ovary(3)|lung(3) 6 BRCA - Breast invasive adenocarcinoma(302;0.00114) AGCCCCATAAGATTCCAGACA 0.289 NaN BER_DNA_glycosylases 0 0 0 1 0 7 49 TXNRD1 7296 broad.mit.edu 37 12 104719163 104719163 + Nonsense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:104719163C>T uc010swk.1 + 11 1286 c.1264C>T c.(1264-1266)CAG>TAG p.Q422* TXNRD1_uc010swl.1_Nonsense_Mutation_p.Q272*|TXNRD1_uc010swm.1_Nonsense_Mutation_p.Q324*|TXNRD1_uc010swn.1_Nonsense_Mutation_p.Q272*|TXNRD1_uc010swo.1_Nonsense_Mutation_p.Q272*|TXNRD1_uc010swp.1_Nonsense_Mutation_p.Q234*|TXNRD1_uc010swq.1_Nonsense_Mutation_p.Q322*|TXNRD1_uc001tku.2_RNA|TXNRD1_uc009zun.2_Nonsense_Mutation_p.Q338* NM_001093771 NP_001087240 Q16881 TRXR1_HUMAN thioredoxin reductase 1 isoform 3 422 cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport cytosol|nucleolus electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity 0 AGTAGTAGCTCAGTCCACCAA 0.383 NaN 0 0 0 1 0 4 16 TCP11L2 255394 broad.mit.edu 37 12 106729964 106729964 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:106729964C>G uc001tln.2 + 8 1289 c.1115C>G c.(1114-1116)GCT>GGT p.A372G NM_152772 NP_689985 Q8N4U5 T11L2_HUMAN t-complex 11 (mouse) like 2 372 ovary(3) 3 AGGATTTCAGCTGTTCTACTT 0.433 NaN 0 0 0 1 0 14 46 POLR3B 55703 broad.mit.edu 37 12 106770206 106770206 + Silent SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:106770206G>C uc001tlp.2 + 7 696 c.474G>C c.(472-474)CTG>CTC p.L158L POLR3B_uc001tlq.2_Silent_p.L100L NM_018082 NP_060552 Q9NW08 RPC2_HUMAN DNA-directed RNA polymerase III B isoform 1 158 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding ovary(1)|central_nervous_system(1) 2 TTGCCAAACTGAACGAATGTC 0.368 NaN 0 0 0 1 0 15 59 VPS29 51699 broad.mit.edu 37 12 110933819 110933819 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:110933819C>T uc001tqy.2 - 2 253 c.193G>A c.(193-195)GAG>AAG p.E65K VPS29_uc001tqw.2_RNA|VPS29_uc001tqx.2_Missense_Mutation_p.E69K|VPS29_uc001tqz.2_RNA NM_016226 NP_057310 Q9UBQ0 VPS29_HUMAN vacuolar protein sorting 29 isoform 1 65 protein transport endosome membrane metal ion binding|phosphoserine phosphatase activity 0 TACATCACCTCATCGAAGTCT 0.403 NaN 0 0 0 1 0 24 50 FAM109A 144717 broad.mit.edu 37 12 111801049 111801049 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:111801049G>C uc001tsd.3 - 3 574 c.183C>G c.(181-183)ATC>ATG p.I61M FAM109A_uc009zvu.2_Nonsense_Mutation_p.S42*|FAM109A_uc001tsc.2_Missense_Mutation_p.I84M NM_144671 NP_653272 Q8N4B1 SESQ1_HUMAN hypothetical protein LOC144717 61 PH. endosome organization|receptor recycling|retrograde transport, endosome to Golgi clathrin-coated vesicle|early endosome|recycling endosome|trans-Golgi network protein homodimerization activity 0 CCTCCAGGATGATGACGCCCA 0.701 NaN 0 0 0 1 0 13 49 RPH3A 22895 broad.mit.edu 37 12 113304639 113304639 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:113304639G>A uc010syl.1 + 7 800 c.438G>A c.(436-438)CAG>CAA p.Q146Q RPH3A_uc001ttz.2_Silent_p.Q146Q|RPH3A_uc001tty.2_Silent_p.Q142Q|RPH3A_uc009zwe.1_Silent_p.Q142Q|RPH3A_uc010sym.1_Silent_p.Q97Q|RPH3A_uc001tua.2_5'Flank NM_001143854 NP_001137326 Q9Y2J0 RP3A_HUMAN rabphilin 3A homolog isoform 1 146 RabBD.|FYVE-type. intracellular protein transport cell junction|synaptic vesicle Rab GTPase binding|transporter activity|zinc ion binding ovary(3)|central_nervous_system(2)|skin(2) 7 BRCA - Breast invasive adenocarcinoma(302;0.00453) GCATTGAGCAGAGGGAGGTGA 0.537 NaN 0 0 0 1 0 9 17 DDX54 79039 broad.mit.edu 37 12 113599704 113599704 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:113599704C>T uc001tup.2 - 18 2322 c.2294G>A c.(2293-2295)CGA>CAA p.R765Q DDX54_uc001tuq.3_Missense_Mutation_p.R765Q NM_024072 NP_076977 Q8TDD1 DDX54_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 54 765 estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent nucleolus ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity skin(2)|central_nervous_system(1) 3 ATACAGGTCTCGCTTGTAGGA 0.517 NaN 0 0 0 1 0 41 183 GCN1L1 10985 broad.mit.edu 37 12 120575013 120575013 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:120575013C>T uc001txo.2 - 50 6787 c.6774G>A c.(6772-6774)AAG>AAA p.K2258K NM_006836 NP_006827 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 2258 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding ovary(4) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GGCTTACCTTCTTCGGGAGGC 0.607 NaN 0 0 0 1 0 32 104 SFRS9 8683 broad.mit.edu 37 12 120907289 120907289 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:120907289C>T uc001tyi.2 - 1 270 c.124G>A c.(124-126)GAG>AAG p.E42K SFRS9_uc009zwy.2_Missense_Mutation_p.E42K|DYNLL1_uc001tyj.2_5'Flank NM_003769 NP_003760 Q13242 SRSF9_HUMAN splicing factor, arginine/serine-rich 9 42 RRM 1. mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription nucleoplasm nucleotide binding|RNA binding 0 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) AGCTCGATCTCGCGGATGCGG 0.493 NaN 0 0 0 1 0 18 57 RNF10 9921 broad.mit.edu 37 12 121002980 121002980 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:121002980G>C uc001typ.3 + 11 2254 c.1771G>C c.(1771-1773)GAG>CAG p.E591Q RNF10_uc010szk.1_RNA|RNF10_uc001tyq.3_Missense_Mutation_p.E502Q NM_014868 NP_055683 Q8N5U6 RNF10_HUMAN ring finger protein 10 591 negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus protein binding|transcription regulatory region DNA binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GGAAACCCTAGAGATGTTCTC 0.428 NaN 0 0 0 1 0 31 84 CABP1 9478 broad.mit.edu 37 12 121098025 121098025 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:121098025G>C uc001tyu.2 + 3 779 c.712G>C c.(712-714)GAC>CAC p.D238H CABP1_uc001tyv.2_Missense_Mutation_p.D95H|CABP1_uc001tyw.2_Missense_Mutation_p.D35H|CABP1_uc001tyx.2_Missense_Mutation_p.D80H NM_001033677 NP_001028849 Q9NZU7 CABP1_HUMAN calcium binding protein 1 isoform 3 238 1.|EF-hand 1. Magnesium. D->A: Loss of magnesium-binding. Loss of binding to ITPRs; when associated with A- 240; A-315; A-317; A-352 and A-354. cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding central_nervous_system(1) 1 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) CAGAGAATTCGACAAGGACAA 0.582 NaN 0 0 0 1 0 27 76 MLEC 9761 broad.mit.edu 37 12 121132759 121132759 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:121132759G>A uc001tyy.1 + 3 698 c.547G>A c.(547-549)GAG>AAG p.E183K NM_014730 NP_055545 Q14165 MLEC_HUMAN malectin precursor 183 Lumenal (Potential). post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane carbohydrate binding ovary(1) 1 TGTCCAGGGGGAGGTGTCCAC 0.478 NaN 0 0 0 1 0 47 121 OASL 8638 broad.mit.edu 37 12 121465473 121465473 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:121465473C>T uc001tzj.1 - 4 811 c.805G>A c.(805-807)GAG>AAG p.E269K OASL_uc001tzk.1_Intron NM_003733 NP_003724 Q15646 OASL_HUMAN 2'-5'-oligoadenylate synthetase-like isoform a 269 interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway cytoplasm|nucleolus ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity skin(1) 1 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) ACTTCATACTCCAGGAGCAGG 0.438 NaN 0 0 0 1 0 34 63 ANAPC5 51433 broad.mit.edu 37 12 121757561 121757561 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:121757561G>A uc001uag.2 - 13 1698 c.1576C>T c.(1576-1578)CAT>TAT p.H526Y ANAPC5_uc010szu.1_Missense_Mutation_p.H192Y|ANAPC5_uc001uae.2_Missense_Mutation_p.H90Y|ANAPC5_uc010szv.1_Missense_Mutation_p.H128Y|ANAPC5_uc001uaf.2_RNA|ANAPC5_uc001uah.2_Missense_Mutation_p.H414Y|ANAPC5_uc001uai.1_Missense_Mutation_p.H128Y NM_016237 NP_057321 Q9UJX4 APC5_HUMAN anaphase-promoting complex subunit 5 isoform a 526 TPR 2. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm protein phosphatase binding|ubiquitin-protein ligase activity skin(3)|breast(2)|kidney(1) 6 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) TCAGCCAAATGATATTTGCCA 0.333 NaN 0 0 0 1 0 9 16 WDR66 144406 broad.mit.edu 37 12 122441644 122441644 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:122441644G>A uc009zxk.2 + 22 3566 c.3424G>A c.(3424-3426)GAA>AAA p.E1142K NM_144668 NP_653269 Q8TBY9 WDR66_HUMAN WD repeat domain 66 1142 calcium ion binding ovary(1)|skin(1) 2 all_neural(191;0.0496)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248) AACCATTTCAGAAGATTCCGG 0.433 NaN 0 0 0 1 0 16 58 ZCCHC8 55596 broad.mit.edu 37 12 122983381 122983381 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:122983381G>C uc001ucn.2 - 2 366 c.235C>G c.(235-237)CGA>GGA p.R79G ZCCHC8_uc009zxp.2_5'UTR|ZCCHC8_uc009zxq.2_5'UTR NM_017612 NP_060082 Q6NZY4 ZCHC8_HUMAN zinc finger, CCHC domain containing 8 79 Potential. catalytic step 2 spliceosome nucleic acid binding|protein binding|zinc ion binding 0 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202) TACCTCGGTCGAGTCAGAATG 0.294 NaN 0 0 0 1 0 5 14 ABCB9 23457 broad.mit.edu 37 12 123424766 123424766 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:123424766C>T uc001udm.3 - 9 1945 c.1635G>A c.(1633-1635)AAG>AAA p.K545K ABCB9_uc010tai.1_Silent_p.K152K|ABCB9_uc009zxr.2_Intron|ABCB9_uc001udo.3_Silent_p.K502K|ABCB9_uc010taj.1_Silent_p.K482K|ABCB9_uc001udp.2_Silent_p.K545K|ABCB9_uc001udq.2_Silent_p.K264K|ABCB9_uc001udr.2_Silent_p.K545K NM_019625 NP_062571 Q9NP78 ABCB9_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), 545 ABC transporter.|ATP (Potential). positive regulation of T cell mediated cytotoxicity|protein transport lysosomal membrane|plasma membrane|TAP complex ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding 0 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111) CACAGGAGCTCTTCCCACTGC 0.627 NaN 0 0 0 1 0 11 48 SBNO1 55206 broad.mit.edu 37 12 123821011 123821011 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:123821011C>T uc010tap.1 - 5 679 c.679G>A c.(679-681)GAA>AAA p.E227K SBNO1_uc010tao.1_Missense_Mutation_p.E226K|SBNO1_uc010taq.1_Intron|SBNO1_uc001uet.2_Missense_Mutation_p.E227K|SBNO1_uc001ueu.2_Missense_Mutation_p.E226K|SBNO1_uc001uev.2_Missense_Mutation_p.E225K|SBNO1_uc009zxy.1_Missense_Mutation_p.E192K NM_018183 NP_060653 A3KN83 SBNO1_HUMAN sno, strawberry notch homolog 1 227 ATP binding|DNA binding|hydrolase activity breast(5)|skin(2)|ovary(1)|kidney(1) 9 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) tcctctggttcatcatcttct 0.343 NaN 0 0 0 1 0 5 28 SETD8 387893 broad.mit.edu 37 12 123889520 123889520 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:123889520C>T uc001uew.2 + 7 789 c.747C>T c.(745-747)CTC>CTT p.L249L SETD8_uc001uex.2_Silent_p.L184L NM_020382 NP_065115 Q9NQR1 SETD8_HUMAN SET domain-containing 8 290 SET. cell division|mitosis|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent chromosome|nucleus histone-lysine N-methyltransferase activity|p53 binding|transcription corepressor activity 0 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425) ACGGGGACCTCATCGAGATCA 0.537 NaN 0 0 0 1 0 17 65 DNAH10 196385 broad.mit.edu 37 12 124293452 124293452 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:124293452C>T uc001uft.3 + 18 2767 c.2742C>T c.(2740-2742)ATC>ATT p.I914I DNAH10_uc010tav.1_Silent_p.I456I|DNAH10_uc010taw.1_Silent_p.I399I NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 914 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) CAAATGAGATCGACAAGATGT 0.468 NaN 0 0 0 1 0 78 266 EP400 57634 broad.mit.edu 37 12 132502203 132502203 + Silent SNP G G A rs141645142 TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:132502203G>A uc001ujn.2 + 19 4082 c.4047G>A c.(4045-4047)GCG>GCA p.A1349A EP400_uc001ujl.2_Silent_p.A1348A|EP400_uc001ujm.2_Silent_p.A1349A NM_015409 NP_056224 Q96L91 EP400_HUMAN E1A binding protein p400 1385 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity central_nervous_system(4)|ovary(3)|breast(3)|skin(2) 12 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) CCTACGTGGCGGGGCCACTGG 0.582 NaN 0 0 0 1 0 22 77 TUBA3C 7278 broad.mit.edu 37 13 19748188 19748188 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr13:19748188G>A uc009zzj.2 - 5 1217 c.1168C>T c.(1168-1170)CGC>TGC p.R390C NM_006001 NP_005992 Q13748 TBA3C_HUMAN tubulin, alpha 3c 390 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity ovary(3)|skin(2) 5 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) TGGTCCAGGCGAGCCCAGGCC 0.647 NaN 0 0 0 1 0 44 175 ZMYM5 9205 broad.mit.edu 37 13 20413042 20413042 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr13:20413042G>A uc010tcn.1 - 5 935 c.670C>T c.(670-672)CGT>TGT p.R224C ZMYM5_uc001umm.1_Missense_Mutation_p.R48C|ZMYM5_uc001umn.2_Missense_Mutation_p.R224C|ZMYM5_uc001umo.2_Intron NM_001142684 NP_001136156 Q9UJ78 ZMYM5_HUMAN zinc finger protein 237 isoform 3 224 nucleus zinc ion binding 0 all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431) TTCTGCTTACGAAGTAAGGCC 0.423 NaN 0 0 0 1 0 48 123 N6AMT2 221143 broad.mit.edu 37 13 21331662 21331662 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr13:21331662C>G uc001uno.1 - 2 157 c.76G>C c.(76-78)GAG>CAG p.E26Q N6AMT2_uc009zzr.1_Missense_Mutation_p.E26Q|N6AMT2_uc001unp.2_RNA NM_174928 NP_777588 Q8WVE0 N6MT2_HUMAN N-6 adenine-specific DNA methyltransferase 2 26 methyltransferase activity|nucleic acid binding 0 all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367) all cancers(112;0.000234)|Epithelial(112;0.000471)|OV - Ovarian serous cystadenocarcinoma(117;0.0111)|Lung(94;0.0161)|LUSC - Lung squamous cell carcinoma(192;0.0431) TGCTTTTGCTCAGCATAAAAT 0.408 NaN 0 0 0 1 0 21 59 SACS 26278 broad.mit.edu 37 13 23913064 23913064 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr13:23913064G>C uc001uon.2 - 10 5540 c.4951C>G c.(4951-4953)CAA>GAA p.Q1651E SACS_uc001uoo.2_Missense_Mutation_p.Q1504E|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 1651 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) GCTTCCTGTTGAGTTCTAAAG 0.388 NaN 0 0 0 1 0 13 50 GSX1 219409 broad.mit.edu 37 13 28367224 28367224 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr13:28367224C>T uc001urr.1 + 1 445 c.397C>T c.(397-399)CAC>TAC p.H133Y NM_145657 NP_663632 Q9H4S2 GSX1_HUMAN GS homeobox 1 133 positive regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Lung SC(185;0.0161) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197) CAGGCAGTTCCACTGCATCTC 0.697 NaN 0 0 0 1 0 6 23 CSNK1A1L 122011 broad.mit.edu 37 13 37678589 37678589 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr13:37678589C>G uc001uwm.1 - 1 1213 c.805G>C c.(805-807)GAG>CAG p.E269Q NM_145203 NP_660204 Q8N752 KC1AL_HUMAN casein kinase 1, alpha 1-like 269 Protein kinase. Wnt receptor signaling pathway cytoplasm ATP binding|protein serine/threonine kinase activity large_intestine(1) 1 Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109) all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407) GGGACTTCCTCAAAGCGCAGC 0.443 NaN 0 0 0 1 0 38 112 KIAA0564 23078 broad.mit.edu 37 13 42335283 42335283 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr13:42335283C>G uc001uyj.2 - 21 2477 c.2407G>C c.(2407-2409)GAA>CAA p.E803Q KIAA0564_uc001uyk.2_Missense_Mutation_p.E803Q NM_015058 NP_055873 A3KMH1 K0564_HUMAN hypothetical protein LOC23078 isoform a 803 extracellular region ATP binding|ATPase activity ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1) 6 Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969) TGAATATATTCTCGGGGTCTG 0.348 NaN 0 0 0 1 0 17 84 TPT1 7178 broad.mit.edu 37 13 45912831 45912831 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr13:45912831C>T uc001uzy.1 - 5 573 c.480G>A c.(478-480)ATG>ATA p.M160I TPT1_uc001uzz.1_Missense_Mutation_p.M126I|SNORA31_uc001vaa.1_5'Flank|LOC100190939_uc010tfr.1_5'Flank|LOC100190939_uc001vac.2_5'Flank NM_003295 NP_003286 P13693 TCTP_HUMAN tumor protein, translationally-controlled 1 160 anti-apoptosis|response to virus extracellular space|multivesicular body calcium ion binding|protein binding 0 Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000232) TAAAGAAAATCATATATGGGG 0.338 NaN 0 0 0 1 0 15 42 TPT1 7178 broad.mit.edu 37 13 45914250 45914250 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr13:45914250C>G uc001uzy.1 - 3 265 c.172G>C c.(172-174)GAG>CAG p.E58Q TPT1_uc001uzz.1_Missense_Mutation_p.E24Q|SNORA31_uc001vaa.1_5'Flank|TPT1_uc010tfp.1_3'UTR|LOC100190939_uc010tfr.1_5'Flank|LOC100190939_uc001vac.2_5'Flank NM_003295 NP_003286 P13693 TCTP_HUMAN tumor protein, translationally-controlled 1 58 anti-apoptosis|response to virus extracellular space|multivesicular body calcium ion binding|protein binding 0 Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000232) CCTTCGCCCTCGGGGCCTTCA 0.448 NaN 0 0 0 1 0 22 81 CPB2 1361 broad.mit.edu 37 13 46658451 46658451 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr13:46658451C>T uc001vaw.2 - 3 245 c.178G>A c.(178-180)GAC>AAC p.D60N uc001vau.1_Intron|uc001vav.1_Intron|CPB2_uc001vax.2_Missense_Mutation_p.D60N NM_001872 NP_001863 Q96IY4 CBPB2_HUMAN plasma carboxypeptidase B2 isoform a 60 blood coagulation|fibrinolysis|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding ovary(1)|skin(1) 2 Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.44e-05) ACAATAAGGTCAGCTGTTACC 0.378 NaN 0 0 0 1 0 24 53 ESD 2098 broad.mit.edu 37 13 47356852 47356852 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr13:47356852C>T uc001vbn.2 - 6 514 c.331G>A c.(331-333)GAA>AAA p.E111K ESD_uc001vbo.2_Missense_Mutation_p.E111K|ESD_uc001vbp.1_5'Flank NM_001984 NP_001975 P10768 ESTD_HUMAN esterase D/formylglutathione hydrolase 111 cytoplasmic membrane-bounded vesicle carboxylesterase activity|S-formylglutathione hydrolase activity ovary(1) 1 all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556) GBM - Glioblastoma multiforme(144;2.66e-05) Glutathione(DB00143) CAAGGATCTTCAGTGGCATCA 0.378 NaN 0 0 0 1 0 18 75 FNDC3A 22862 broad.mit.edu 37 13 49710506 49710506 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr13:49710506G>C uc001vcm.2 + 6 834 c.529G>C c.(529-531)GAA>CAA p.E177Q FNDC3A_uc001vcl.1_Missense_Mutation_p.E177Q|FNDC3A_uc001vcn.2_Missense_Mutation_p.E177Q|FNDC3A_uc001vco.2_RNA|FNDC3A_uc001vcp.1_Missense_Mutation_p.E121Q|FNDC3A_uc001vcq.2_Missense_Mutation_p.E121Q NM_001079673 NP_001073141 Q9Y2H6 FND3A_HUMAN fibronectin type III domain containing 3A 177 Golgi membrane|integral to membrane lung(2) 2 all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;2.94e-09) CTTTAGAGATGAACGATCTAG 0.378 NaN 0 0 0 1 0 12 40 KCNRG 283518 broad.mit.edu 37 13 50590174 50590174 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr13:50590174C>G uc001vdu.2 + 1 785 c.545C>G c.(544-546)TCT>TGT p.S182C DLEU2_uc001vdn.1_Intron|DLEU2_uc001vdo.1_Intron|KCNRG_uc001vdt.2_Missense_Mutation_p.S182C|TRIM13_uc001vdp.1_3'UTR|TRIM13_uc001vdq.1_3'UTR|TRIM13_uc001vdr.1_3'UTR|TRIM13_uc001vds.1_3'UTR NM_173605 NP_775876 Q8N5I3 KCNRG_HUMAN potassium channel regulator isoform 1 182 voltage-gated potassium channel complex identical protein binding|voltage-gated potassium channel activity 0 Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204) CAGTGTGGTTCTGACAGCACT 0.428 NaN 0 0 0 1 0 14 47 PCDH17 27253 broad.mit.edu 37 13 58207697 58207697 + Silent SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr13:58207697C>G uc001vhq.1 + 1 1909 c.1017C>G c.(1015-1017)GTC>GTG p.V339V PCDH17_uc010aec.1_Silent_p.V339V NM_001040429 NP_001035519 O14917 PCD17_HUMAN protocadherin 17 precursor 339 Extracellular (Potential).|Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 7 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) AAGTCACGGTCAAGCTCATCG 0.642 NaN 0 0 0 1 0 42 108 DIAPH3 81624 broad.mit.edu 37 13 60584692 60584692 + Missense_Mutation SNP C C A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr13:60584692C>A uc001vht.2 - 8 1102 c.883G>T c.(883-885)GTA>TTA p.V295L DIAPH3_uc001vhu.2_Missense_Mutation_p.V32L|DIAPH3_uc001vhw.1_Missense_Mutation_p.V284L|DIAPH3_uc010aed.1_Missense_Mutation_p.V249L|DIAPH3_uc010aee.1_Missense_Mutation_p.V225L|uc001vhx.2_5'Flank|uc001vhy.2_5'Flank NM_001042517 NP_001035982 Q9NSV4 DIAP3_HUMAN diaphanous homolog 3 isoform a 295 GBD/FH3. actin cytoskeleton organization actin binding|Rho GTPase binding ovary(2) 2 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;2.77e-05) ACAATGCATACCGCAGAGAGA 0.368 NaN 1 0 0.150653 1 0.15101 4 16 KLHL1 57626 broad.mit.edu 37 13 70681477 70681477 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr13:70681477G>A uc001vip.2 - 1 1149 c.355C>T c.(355-357)CTC>TTC p.L119F KLHL1_uc010thm.1_Missense_Mutation_p.L119F|ATXN8OS_uc010aej.1_RNA NM_020866 NP_065917 Q9NR64 KLHL1_HUMAN kelch-like 1 protein 119 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding 0 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) ACGTAGAAGAGAGTCCTGGCT 0.562 NaN 0 0 0 1 0 29 75 C13orf34 79866 broad.mit.edu 37 13 73321094 73321094 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr13:73321094G>C uc001viv.1 + 10 1446 c.1327G>C c.(1327-1329)GAT>CAT p.D443H C13orf34_uc010thq.1_Missense_Mutation_p.D218H|C13orf34_uc010aen.1_Missense_Mutation_p.D518H|C13orf34_uc010thr.1_Missense_Mutation_p.D373H|C13orf34_uc001viw.1_Missense_Mutation_p.D392H NM_024808 NP_079084 Q6PGQ7 BORA_HUMAN aurora borealis 443 cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization protein kinase binding 0 Breast(118;0.0735) GBM - Glioblastoma multiforme(99;0.000227) AGAGATAGCAGATGAGACCAC 0.413 NaN 0 0 0 1 0 24 87 LMO7 4008 broad.mit.edu 37 13 76408454 76408454 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr13:76408454G>A uc001vjv.2 + 14 3218 c.2458G>A c.(2458-2460)GAG>AAG p.E820K LMO7_uc010thv.1_Missense_Mutation_p.E771K|LMO7_uc001vjt.1_Missense_Mutation_p.E719K|LMO7_uc010thw.1_Missense_Mutation_p.E670K|LMO7_uc001vjw.1_Missense_Mutation_p.E726K NM_015842 NP_056667 Q8WWI1 LMO7_HUMAN LIM domain only 7 isoform 2 1105 PDZ. cytoplasm|nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding large_intestine(2)|ovary(1)|prostate(1)|skin(1) 5 Breast(118;0.0992) GBM - Glioblastoma multiforme(99;0.0109) AAAAGAGTGGGAGGAAGCCAT 0.418 NaN 0 0 0 1 0 29 71 MYCBP2 23077 broad.mit.edu 37 13 77736073 77736073 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr13:77736073C>G uc001vkf.2 - 45 6542 c.6451G>C c.(6451-6453)GAC>CAC p.D2151H MYCBP2_uc010aev.2_Missense_Mutation_p.D1555H NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 2151 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1) 14 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) ATTTCAAGGTCTTCTTCTAAT 0.294 NaN 0 0 0 1 0 11 60 FARP1 10160 broad.mit.edu 37 13 99037049 99037049 + Nonsense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr13:99037049C>T uc001vnj.2 + 7 898 c.562C>T c.(562-564)CAG>TAG p.Q188* FARP1_uc001vnh.2_Nonsense_Mutation_p.Q188* NM_005766 NP_005757 Q9Y4F1 FARP1_HUMAN FERM, RhoGEF, and pleckstrin domain protein 1 188 FERM. regulation of Rho protein signal transduction cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(2) 2 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) ATACATACCTCAGCAAGACGC 0.418 NaN 0 0 0 1 0 8 37 DOCK9 23348 broad.mit.edu 37 13 99520266 99520266 + Splice_Site SNP C C A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr13:99520266C>A uc001vnt.2 - 29 3149 c.3094_splice c.e29-1 p.R1032_splice DOCK9_uc001vnw.2_Splice_Site_p.R1031_splice|DOCK9_uc001vnv.1_Splice_Site|DOCK9_uc010tir.1_Splice_Site_p.R1032_splice|DOCK9_uc010tis.1_Splice_Site_p.R1031_splice|DOCK9_uc010tit.1_Splice_Site_p.R1032_splice|DOCK9_uc010tiq.1_Splice_Site|DOCK9_uc010afu.1_Splice_Site_p.R878_splice NM_015296 NP_056111 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 isoform a blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity central_nervous_system(1) 1 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) TGAAACATCTCTGTGGAGGAA 0.408 NaN 1 0 0.0215528 1 0.0216679 4 19 TM9SF2 9375 broad.mit.edu 37 13 100181787 100181787 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr13:100181787G>A uc001voj.1 + 4 533 c.400G>A c.(400-402)GAA>AAA p.E134K TM9SF2_uc010afz.1_Intron NM_004800 NP_004791 Q99805 TM9S2_HUMAN transmembrane 9 superfamily member 2 precursor 134 Lumenal (Potential). transport endosome membrane|integral to plasma membrane ovary(1) 1 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218) AGAGAAAGCTGAAGACAAACA 0.313 NaN 0 0 0 1 0 22 31 NALCN 259232 broad.mit.edu 37 13 101997647 101997647 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr13:101997647C>G uc001vox.1 - 7 958 c.769G>C c.(769-771)GAG>CAG p.E257Q NALCN_uc001voy.2_Intron|NALCN_uc001voz.2_Missense_Mutation_p.E257Q|NALCN_uc001vpa.2_Missense_Mutation_p.E257Q NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 257 Extracellular (Potential). integral to membrane sodium channel activity|voltage-gated ion channel activity ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1) 16 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TAGCCCAGCTCTTGCCTGCTA 0.418 NaN 0 0 0 1 0 45 107 UPF3A 65110 broad.mit.edu 37 13 115047559 115047559 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr13:115047559C>T uc001vup.2 + 2 308 c.271C>T c.(271-273)CTG>TTG p.L91L UPF3A_uc010tkn.1_Silent_p.L91L|UPF3A_uc001vuq.2_Silent_p.L91L|UPF3A_uc001vus.2_RNA|UPF3A_uc001vur.2_RNA NM_023011 NP_075387 Q9H1J1 REN3A_HUMAN UPF3 regulator of nonsense transcripts homolog A 91 Required for interaction with UPF2. mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation cytoplasm|nucleus|plasma membrane nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding skin(1) 1 Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238) BRCA - Breast invasive adenocarcinoma(86;0.0886) OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2) GCTGCGCCCGCTGCCAGCACA 0.731 NaN 0 0 0 1 0 3 11 OR11H12 440153 broad.mit.edu 37 14 19378098 19378098 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:19378098C>T uc010tkp.1 + 1 505 c.505C>T c.(505-507)CTG>TTG p.L169L NM_001013354 NP_001013372 B2RN74 O11HC_HUMAN olfactory receptor, family 11, subfamily H, 169 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TTGTGGATTTCTGTGGTTCCT 0.483 NaN 0 0 0 1 0 11 274 OR4K2 390431 broad.mit.edu 37 14 20344666 20344666 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:20344666G>C uc001vwh.1 + 1 240 c.240G>C c.(238-240)AAG>AAC p.K80N NM_001005501 NP_001005501 Q8NGD2 OR4K2_HUMAN olfactory receptor, family 4, subfamily K, 80 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(2) 4 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CCACCCCAAAGATGATTACAG 0.413 NaN 0 0 0 1 0 37 417 OR4K2 390431 broad.mit.edu 37 14 20345153 20345153 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:20345153C>T uc001vwh.1 + 1 727 c.727C>T c.(727-729)CAT>TAT p.H243Y NM_001005501 NP_001005501 Q8NGD2 OR4K2_HUMAN olfactory receptor, family 4, subfamily K, 243 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(2) 4 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TTGTACAGCTCATTTCATTGT 0.378 NaN 0 0 0 1 0 28 214 SUPT16H 11198 broad.mit.edu 37 14 21822578 21822578 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:21822578C>T uc001wao.2 - 23 3121 c.2782G>A c.(2782-2784)GAG>AAG p.E928K SUPT16H_uc001wan.2_Missense_Mutation_p.E72K NM_007192 NP_009123 Q9Y5B9 SP16H_HUMAN chromatin-specific transcription elongation 928 Glu-rich (acidic). DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|nucleoplasm GTP binding 0 all_cancers(95;0.00115) Epithelial(56;1.62e-06)|all cancers(55;1.49e-05) GBM - Glioblastoma multiforme(265;0.0159) ACCTCACCCTCAGGCTCCAGG 0.478 NaN 0 0 0 1 0 8 52 CDH24 64403 broad.mit.edu 37 14 23524350 23524350 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:23524350G>A uc001wil.2 - 3 674 c.414C>T c.(412-414)ATC>ATT p.I138I CDH24_uc010akf.2_Silent_p.I138I|CDH24_uc001win.3_Silent_p.I138I NM_022478 NP_071923 Q86UP0 CAD24_HUMAN cadherin-like 24 isoform 1 138 Cadherin 1.|Extracellular (Potential). adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion cell-cell junction|cell-cell junction|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding central_nervous_system(1) 1 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.00654) CTTGCACTTTGATGATGAACT 0.587 NaN OREG0022594 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 1 0 39 136 ACIN1 22985 broad.mit.edu 37 14 23548985 23548985 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:23548985G>C uc001wit.3 - 6 2061 c.1733C>G c.(1732-1734)TCT>TGT p.S578C ACIN1_uc001wis.3_Missense_Mutation_p.S260C|ACIN1_uc010akg.2_Missense_Mutation_p.S578C|ACIN1_uc010tnj.1_Missense_Mutation_p.S538C NM_014977 NP_055792 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 578 Ser-rich. apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding ovary(2)|large_intestine(1)|skin(1) 4 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) GGACCGGCTAGAGGATGAATC 0.498 NaN 0 0 0 1 0 26 131 ACIN1 22985 broad.mit.edu 37 14 23549444 23549444 + Missense_Mutation SNP G G C rs151153498 TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:23549444G>C uc001wit.3 - 6 1602 c.1274C>G c.(1273-1275)TCT>TGT p.S425C ACIN1_uc001wis.3_Missense_Mutation_p.S107C|ACIN1_uc010akg.2_Missense_Mutation_p.S425C|ACIN1_uc010tnj.1_Missense_Mutation_p.S385C NM_014977 NP_055792 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 425 Glu-rich. apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding ovary(2)|large_intestine(1)|skin(1) 4 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) AGGTGGTGGAGAAGATGCTTC 0.517 NaN 0 0 0 1 0 20 65 MYH6 4624 broad.mit.edu 37 14 23863393 23863393 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:23863393C>G uc001wjv.2 - 21 2636 c.2569G>C c.(2569-2571)GAG>CAG p.E857Q NM_002471 NP_002462 P13533 MYH6_HUMAN myosin heavy chain 6 857 Potential. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle pancreas(2)|ovary(1)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) CGCCCGAACTCTTCCTTCATG 0.567 NaN 0 0 0 1 0 40 125 MYH6 4624 broad.mit.edu 37 14 23865621 23865621 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:23865621G>A uc001wjv.2 - 20 2368 c.2301C>T c.(2299-2301)TTC>TTT p.F767F NM_002471 NP_002462 P13533 MYH6_HUMAN myosin heavy chain 6 767 Actin-binding.|Myosin head-like. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle pancreas(2)|ovary(1)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) GCCCTGCCTTGAAGAACACCT 0.637 NaN 0 0 0 1 0 22 50 MYH7 4625 broad.mit.edu 37 14 23899054 23899054 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:23899054G>A uc001wjx.2 - 12 1174 c.1068C>T c.(1066-1068)ATC>ATT p.I356I NM_000257 NP_000248 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 356 Myosin head-like. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(3)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) CAAAGTGCATGATGGCGCCTG 0.562 NaN 0 0 0 1 0 34 99 DHRS4 10901 broad.mit.edu 37 14 24424331 24424331 + Silent SNP G G A rs142533242 TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:24424331G>A uc001wla.2 + 2 249 c.216G>A c.(214-216)GCG>GCA p.A72A C14orf167_uc001wkz.2_5'Flank|C14orf167_uc001wky.2_5'Flank|C14orf167_uc001wkx.2_5'Flank|C14orf167_uc010akx.1_5'Flank|DHRS4_uc010aky.2_Silent_p.A72A|DHRS4_uc001wlb.2_Silent_p.A72A|DHRS4_uc010akz.2_Silent_p.A72A|DHRS4_uc001wlc.3_Silent_p.A72A|DHRS4L2_uc001wld.3_Silent_p.A72A|DHRS4L2_uc001wle.3_Silent_p.A72A NM_021004 NP_066284 Q9BTZ2 DHRS4_HUMAN peroxisomal short-chain alcohol dehydrogenase 72 mitochondrion|nuclear membrane|peroxisome binding|carbonyl reductase (NADPH) activity ovary(1) 1 GBM - Glioblastoma multiforme(265;0.00962) Vitamin A(DB00162) TGGACCAGGCGGTGGCCACGC 0.692 NaN 0 0 0 1 0 36 112 ADCY4 196883 broad.mit.edu 37 14 24800506 24800506 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:24800506C>G uc001wov.2 - 5 732 c.726G>C c.(724-726)GAG>GAC p.E242D ADCY4_uc001wow.2_Missense_Mutation_p.E242D|ADCY4_uc010toh.1_5'UTR|ADCY4_uc001wox.2_Missense_Mutation_p.E242D|ADCY4_uc001woy.2_Missense_Mutation_p.E242D NM_139247 NP_640340 Q8NFM4 ADCY4_HUMAN adenylate cyclase 4 242 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding|protein binding ovary(1)|lung(1)|pancreas(1) 3 GBM - Glioblastoma multiforme(265;0.0192) GTGCCATGATCTCTGCCTTCA 0.552 NaN 0 0 0 1 0 30 92 ADCY4 196883 broad.mit.edu 37 14 24801006 24801006 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:24801006C>T uc001wov.2 - 4 663 c.657G>A c.(655-657)GAG>GAA p.E219E ADCY4_uc001wow.2_Silent_p.E219E|ADCY4_uc010toh.1_5'UTR|ADCY4_uc001wox.2_Silent_p.E219E|ADCY4_uc001woy.2_Silent_p.E219E NM_139247 NP_640340 Q8NFM4 ADCY4_HUMAN adenylate cyclase 4 219 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding|protein binding ovary(1)|lung(1)|pancreas(1) 3 GBM - Glioblastoma multiforme(265;0.0192) GGTGCTTCTTCTCGGTGTCCA 0.458 NaN 0 0 0 1 0 11 27 NYNRIN 57523 broad.mit.edu 37 14 24880396 24880396 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:24880396G>A uc001wpf.3 + 5 2847 c.2529G>A c.(2527-2529)AAG>AAA p.K843K NM_025081 NP_079357 Q9P2P1 NYNRI_HUMAN hypothetical protein LOC57523 843 DNA integration integral to membrane DNA binding ovary(2)|central_nervous_system(1) 3 AGCTGAAGAAGAACCGGAGGG 0.592 NaN OREG0022626 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 1 0 40 144 HECTD1 25831 broad.mit.edu 37 14 31572252 31572252 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:31572252G>C uc001wrc.1 - 41 7909 c.7420C>G c.(7420-7422)CCA>GCA p.P2474A HECTD1_uc001wra.1_Missense_Mutation_p.P600A|HECTD1_uc001wrb.1_Missense_Mutation_p.P600A NM_015382 NP_056197 Q9ULT8 HECD1_HUMAN HECT domain containing 1 2474 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity ovary(3)|large_intestine(1)|lung(1) 5 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) TTCTCCATTGGAAAAACTTTA 0.358 NaN 0 0 0 1 0 15 47 HECTD1 25831 broad.mit.edu 37 14 31602831 31602831 + Missense_Mutation SNP C C A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:31602831C>A uc001wrc.1 - 23 4118 c.3629G>T c.(3628-3630)TGG>TTG p.W1210L HECTD1_uc001wrd.1_Missense_Mutation_p.W725L NM_015382 NP_056197 Q9ULT8 HECD1_HUMAN HECT domain containing 1 1210 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity ovary(3)|large_intestine(1)|lung(1) 5 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) CACATGTCTCCACCCTTGTTT 0.363 NaN 1 0 0.00307968 1 0.00310906 8 38 HECTD1 25831 broad.mit.edu 37 14 31602844 31602844 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:31602844C>G uc001wrc.1 - 23 4105 c.3616G>C c.(3616-3618)GAG>CAG p.E1206Q HECTD1_uc001wrd.1_Missense_Mutation_p.E721Q NM_015382 NP_056197 Q9ULT8 HECD1_HUMAN HECT domain containing 1 1206 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity ovary(3)|large_intestine(1)|lung(1) 5 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) CCTTGTTTCTCATCCTTTGGT 0.363 NaN 0 0 0 1 0 7 24 HEATR5A 25938 broad.mit.edu 37 14 31849763 31849763 + Missense_Mutation SNP C C A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:31849763C>A uc001wrf.3 - 5 816 c.739G>T c.(739-741)GAT>TAT p.D247Y HEATR5A_uc010ami.2_Missense_Mutation_p.D145Y|HEATR5A_uc001wrg.1_Missense_Mutation_p.D129Y|HEATR5A_uc010tpk.1_Missense_Mutation_p.D540Y NM_015473 NP_056288 Q86XA9 HTR5A_HUMAN HEAT repeat containing 5A 534 binding ovary(1) 1 Hepatocellular(127;0.0877)|Breast(36;0.137) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.0059) CACAGCAAATCCTCTGCTAAT 0.358 NaN 1 0 2.0095e-06 1 2.06813e-06 6 17 MIPOL1 145282 broad.mit.edu 37 14 37777576 37777576 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:37777576G>A uc001wuc.2 + 10 1183 c.680G>A c.(679-681)AGA>AAA p.R227K MIPOL1_uc010amr.2_Intron|MIPOL1_uc001wub.3_Missense_Mutation_p.R196K|MIPOL1_uc001wud.2_Missense_Mutation_p.R227K|MIPOL1_uc010ams.2_Missense_Mutation_p.R227K|MIPOL1_uc001wue.2_Missense_Mutation_p.R196K|MIPOL1_uc010amt.2_Missense_Mutation_p.R46K NM_138731 NP_620059 Q8TD10 MIPO1_HUMAN mirror-image polydactyly 1 227 ovary(1)|central_nervous_system(1) 2 Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196) GBM - Glioblastoma multiforme(112;0.0358) TTACTGAACAGAATAAACAAT 0.308 NaN 0 0 0 1 0 20 50 SSTR1 6751 broad.mit.edu 37 14 38679239 38679239 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:38679239C>T uc001wul.1 + 3 1262 c.645C>T c.(643-645)CCC>CCT p.P215P SSTR1_uc010amu.1_Intron NM_001049 NP_001040 P30872 SSR1_HUMAN somatostatin receptor 1 215 Extracellular (Potential). digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient integral to plasma membrane somatostatin receptor activity central_nervous_system(3)|ovary(1)|lung(1) 5 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00444) Octreotide(DB00104) TGCCAGAGCCCGCTCAACGCT 0.607 NaN 0 0 0 1 0 26 81 PPIL5 122769 broad.mit.edu 37 14 50074583 50074583 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:50074583G>A uc001wwn.2 + 3 1072 c.748G>A c.(748-750)GAA>AAA p.E250K SDCCAG1_uc010anj.1_Intron|PPIL5_uc001wwo.2_Intron|PPIL5_uc010ank.2_Missense_Mutation_p.E191K|PPIL5_uc001wwp.2_RNA NM_152329 NP_689542 Q96L50 LLR1_HUMAN peptidylprolyl isomerase (cyclophilin)-like 5 250 LRR 5. 0 all_epithelial(31;0.0021)|Breast(41;0.0124) CCAGCTCCAGGAACTTAAGAA 0.403 NaN 0 0 0 1 0 11 47 GCH1 2643 broad.mit.edu 37 14 55310749 55310749 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:55310749G>A uc001xbh.1 - 6 900 c.739C>T c.(739-741)CTC>TTC p.L247F GCH1_uc001xbi.1_Missense_Mutation_p.L247F|GCH1_uc001xbj.1_Intron|GCH1_uc001xbk.1_Intron|GCH1_uc010aol.1_Intron NM_001024024 NP_001019195 P30793 GCH1_HUMAN GTP cyclohydrolase 1 isoform 1 247 dopamine biosynthetic process|GTP catabolic process|neuromuscular process controlling posture|nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|protein homooligomerization|response to interferon-gamma|response to lipopolysaccharide|response to pain|response to tumor necrosis factor|tetrahydrobiopterin biosynthetic process|tetrahydrofolate biosynthetic process cytoplasmic vesicle|cytosol|nuclear membrane|protein complex GTP binding|GTP cyclohydrolase I activity|protein homodimerization activity|zinc ion binding skin(1) 1 CTCCTAATGAGAGTCAGGAAC 0.483 NaN 0 0 0 1 0 34 87 KIAA0831 22863 broad.mit.edu 37 14 55852644 55852644 + Nonsense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:55852644G>A uc001xbx.1 - 5 616 c.580C>T c.(580-582)CGA>TGA p.R194* FBXO34_uc001xbv.2_Intron|KIAA0831_uc001xbw.1_Nonsense_Mutation_p.R81* NM_014924 NP_055739 Q6ZNE5 BAKOR_HUMAN Barkor 194 autophagic vacuole assembly|positive regulation of autophagy autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane protein binding 0 TGGGATCGTCGAAGATTTGCC 0.408 NaN 0 0 0 1 0 8 30 RTN1 6252 broad.mit.edu 37 14 60193729 60193729 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:60193729G>A uc001xen.1 - 3 1882 c.1673C>T c.(1672-1674)TCG>TTG p.S558L RTN1_uc001xem.1_Missense_Mutation_p.S138L NM_021136 NP_066959 Q16799 RTN1_HUMAN reticulon 1 isoform A 558 neuron differentiation integral to endoplasmic reticulum membrane signal transducer activity ovary(2)|central_nervous_system(2) 4 OV - Ovarian serous cystadenocarcinoma(108;0.0968) GTTGGAACTCGAGTCTTCTTC 0.622 NaN 0 0 0 1 0 9 38 PPM1A 5494 broad.mit.edu 37 14 60750112 60750112 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:60750112G>A uc010apn.2 + 3 1093 c.691G>A c.(691-693)GAT>AAT p.D231N PPM1A_uc001xew.3_Missense_Mutation_p.D304N|PPM1A_uc001xex.3_Missense_Mutation_p.D231N|PPM1A_uc001xey.3_Missense_Mutation_p.D231N NM_021003 NP_066283 P35813 PPM1A_HUMAN protein phosphatase 1A isoform 1 231 cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway cytosol|nucleus|protein serine/threonine phosphatase complex magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity skin(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.046) TGAAGAAGATGATCAGTTCAT 0.413 NaN 0 0 0 1 0 43 96 SYT16 83851 broad.mit.edu 37 14 62463153 62463153 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:62463153C>G uc001xfu.1 + 1 613 c.416C>G c.(415-417)TCT>TGT p.S139C SYT16_uc010tsd.1_Missense_Mutation_p.S139C NM_031914 NP_114120 Q17RD7 SYT16_HUMAN synaptotagmin XIV-like 139 central_nervous_system(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118) GTGCTTTCTTCTATTGCGGAG 0.478 NaN 0 0 0 1 0 39 119 SYNE2 23224 broad.mit.edu 37 14 64529564 64529564 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:64529564C>T uc001xgm.2 + 50 10393 c.10163C>T c.(10162-10164)TCG>TTG p.S3388L SYNE2_uc001xgl.2_Missense_Mutation_p.S3388L|SYNE2_uc010apw.1_Missense_Mutation_p.S94L NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 3388 Cytoplasmic (Potential).|Potential. centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TCCATGTCCTCGTTGCCACTG 0.398 NaN 0 0 0 1 0 13 33 SYNE2 23224 broad.mit.edu 37 14 64542728 64542728 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:64542728C>G uc001xgm.2 + 54 11162 c.10932C>G c.(10930-10932)ATC>ATG p.I3644M SYNE2_uc001xgl.2_Missense_Mutation_p.I3644M|SYNE2_uc010apy.2_Missense_Mutation_p.I6M|SYNE2_uc010apw.1_Missense_Mutation_p.I350M|SYNE2_uc010apx.1_Missense_Mutation_p.I36M NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 3644 Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) AACTGCGAATCAAGTATTCCG 0.368 NaN 0 0 0 1 0 8 19 FNTB 2342 broad.mit.edu 37 14 65521359 65521359 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:65521359C>T uc001xia.2 + 11 1299 c.1134C>T c.(1132-1134)AGC>AGT p.S378S FNTB_uc010tsl.1_Silent_p.S412S|FNTB_uc010tsm.1_Silent_p.S332S|MAX_uc001xic.1_Intron|FNTB_uc001xid.2_Silent_p.S134S|FNTB_uc010tso.1_Silent_p.S293S NM_002028 NP_002019 P49356 FNTB_HUMAN farnesyltransferase, CAAX box, beta 378 protein farnesylation microtubule associated complex protein binding|protein farnesyltransferase activity ovary(1) 1 all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011) ACTTCGGCAGCGGAGCCATGT 0.612 NaN 0 0 0 1 0 8 28 RDH12 145226 broad.mit.edu 37 14 68196080 68196080 + Silent SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:68196080G>C uc001xjz.3 + 8 1155 c.831G>C c.(829-831)CTG>CTC p.L277L NM_152443 NP_689656 Q96NR8 RDH12_HUMAN retinol dehydrogenase 12 277 photoreceptor cell maintenance|response to stimulus|retinol metabolic process intracellular binding|retinol dehydrogenase activity ovary(1) 1 all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953) Vitamin A(DB00162) TGGAGCCCCTGAGTGGCAAGT 0.637 NaN 0 0 0 1 0 25 81 ZFYVE26 23503 broad.mit.edu 37 14 68217796 68217796 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:68217796G>C uc001xka.2 - 41 7528 c.7389C>G c.(7387-7389)ATC>ATG p.I2463M ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkb.2_Missense_Mutation_p.I309M NM_015346 NP_056161 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 2463 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) GTATTGCCTGGATCAGGCCCT 0.552 NaN 0 0 0 1 0 24 60 C14orf181 400223 broad.mit.edu 37 14 69262700 69262700 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:69262700G>A uc001xkj.1 - 1 491 c.312C>T c.(310-312)CTC>CTT p.L104L ZFP36L1_uc001xkh.1_5'Flank|ZFP36L1_uc001xki.1_5'Flank NM_207442 NP_997325 hypothetical protein LOC400223 0 all cancers(60;0.002)|BRCA - Breast invasive adenocarcinoma(234;0.00204)|OV - Ovarian serous cystadenocarcinoma(108;0.0399) AGGCCGAGGCGAGGCGTGCGT 0.761 NaN 0 0 0 1 0 4 24 ADAM20 8748 broad.mit.edu 37 14 70989717 70989717 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:70989717G>A uc001xme.2 - 2 2153 c.1908C>T c.(1906-1908)CTC>CTT p.L636L NM_003814 NP_003805 O43506 ADA20_HUMAN ADAM metallopeptidase domain 20 preproprotein 586 Cys-rich.|Extracellular (Potential). proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188) all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344) TGGTGTCATTGAGGTGAAACT 0.448 NaN 0 0 0 1 0 35 87 HEATR4 399671 broad.mit.edu 37 14 73987670 73987670 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:73987670C>T uc010tub.1 - 4 1277 c.955G>A c.(955-957)GAA>AAA p.E319K HEATR4_uc010tua.1_Missense_Mutation_p.E272K NM_203309 NP_976054 HEAT repeat containing 4 ovary(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719) CTCGTCTTTTCATGGATATCC 0.517 NaN 0 0 0 1 0 26 76 C14orf43 91748 broad.mit.edu 37 14 74203808 74203808 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:74203808C>G uc001xot.2 - 3 2425 c.1642G>C c.(1642-1644)GAT>CAT p.D548H C14orf43_uc001xou.2_Missense_Mutation_p.D548H|C14orf43_uc010tud.1_Missense_Mutation_p.D548H|C14orf43_uc010arw.2_RNA NM_194278 NP_919254 Q6PJG2 CN043_HUMAN hypothetical protein LOC91748 548 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(4)|central_nervous_system(1) 5 BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115) CCGTCCTCATCAAGACCTCCA 0.607 NaN 0 0 0 1 0 33 72 C14orf43 91748 broad.mit.edu 37 14 74203900 74203900 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:74203900C>T uc001xot.2 - 3 2333 c.1550G>A c.(1549-1551)CGA>CAA p.R517Q C14orf43_uc001xou.2_Missense_Mutation_p.R517Q|C14orf43_uc010tud.1_Missense_Mutation_p.R517Q|C14orf43_uc010arw.2_RNA NM_194278 NP_919254 Q6PJG2 CN043_HUMAN hypothetical protein LOC91748 517 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(4)|central_nervous_system(1) 5 BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115) ACTGTCTTCTCGTGCTCGCTT 0.552 NaN 0 0 0 1 0 15 52 COQ6 51004 broad.mit.edu 37 14 74428472 74428472 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:74428472G>C uc001xph.2 + 11 1323 c.1243G>C c.(1243-1245)GAA>CAA p.E415Q ENTPD5_uc001xpi.2_Intron|COQ6_uc001xpe.2_Missense_Mutation_p.E340Q|COQ6_uc001xpf.2_Missense_Mutation_p.E340Q|COQ6_uc010tuk.1_Missense_Mutation_p.E390Q|COQ6_uc001xpg.2_Intron NM_182476 NP_872282 Q9Y2Z9 COQ6_HUMAN coenzyme Q6 homolog isoform a 415 ubiquinone biosynthetic process mitochondrion flavin adenine dinucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen 0 BRCA - Breast invasive adenocarcinoma(234;0.00337) TTATGAAACAGAAAGACAGCG 0.483 NaN 0 0 0 1 0 56 160 C14orf115 55237 broad.mit.edu 37 14 74824374 74824374 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:74824374C>G uc001xpw.3 + 2 1079 c.888C>G c.(886-888)TTC>TTG p.F296L NM_018228 NP_060698 Q9H8Y1 VRTN_HUMAN hypothetical protein LOC55237 296 transposition, DNA-mediated DNA binding|transposase activity 0 BRCA - Breast invasive adenocarcinoma(234;0.00147) AAAGCACCTTCTACCGCTGGC 0.647 NaN 0 0 0 1 0 33 89 MLH3 27030 broad.mit.edu 37 14 75513113 75513113 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:75513113C>T uc001xrd.1 - 2 3462 c.3246G>A c.(3244-3246)CTG>CTA p.L1082L MLH3_uc001xre.1_Silent_p.L1082L|MLH3_uc010tuy.1_RNA NM_001040108 NP_001035197 Q9UHC1 MLH3_HUMAN mutL homolog 3 isoform 1 1082 mismatch repair|reciprocal meiotic recombination chiasma|MutLbeta complex|synaptonemal complex ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(234;0.00688) CCACAGTTGTCAGGTCTTTAG 0.438 NaN MMR 0 0 0 1 0 25 75 MLH3 27030 broad.mit.edu 37 14 75514904 75514904 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:75514904C>T uc001xrd.1 - 2 1671 c.1455G>A c.(1453-1455)GAG>GAA p.E485E MLH3_uc001xre.1_Silent_p.E485E|MLH3_uc010tuy.1_RNA NM_001040108 NP_001035197 Q9UHC1 MLH3_HUMAN mutL homolog 3 isoform 1 485 mismatch repair|reciprocal meiotic recombination chiasma|MutLbeta complex|synaptonemal complex ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(234;0.00688) TTTTATGTTTCTCATTTTCTC 0.363 NaN MMR 0 0 0 1 0 28 78 NEK9 91754 broad.mit.edu 37 14 75563842 75563842 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:75563842C>T uc001xrl.2 - 17 2288 c.2134G>A c.(2134-2136)GAC>AAC p.D712N NEK9_uc001xrk.2_Missense_Mutation_p.D212N NM_033116 NP_149107 Q8TD19 NEK9_HUMAN NIMA-related kinase 9 712 RCC1 6. cell division|mitosis mitochondrion|nucleus ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity lung(2)|stomach(2)|ovary(1) 5 BRCA - Breast invasive adenocarcinoma(234;0.00718) CAAGACAGGTCCGGGACATGA 0.522 NaN 0 0 0 1 0 12 45 FLVCR2 55640 broad.mit.edu 37 14 76045555 76045555 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:76045555G>A uc001xrs.2 + 1 616 c.240G>A c.(238-240)GTG>GTA p.V80V NM_017791 NP_060261 Q9UPI3 FLVC2_HUMAN feline leukemia virus subgroup C cellular 80 transmembrane transport integral to membrane|plasma membrane heme binding|heme transporter activity 0 BRCA - Breast invasive adenocarcinoma(234;0.029) TGATCAAGGTGAGCAGGCGCC 0.597 NaN 0 0 0 1 0 43 141 C14orf118 55668 broad.mit.edu 37 14 76638345 76638345 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:76638345C>G uc001xsh.2 + 4 973 c.887C>G c.(886-888)TCT>TGT p.S296C C14orf118_uc001xsi.2_Missense_Mutation_p.S296C|C14orf118_uc001xsj.1_Missense_Mutation_p.S296C|C14orf118_uc001xsk.1_Missense_Mutation_p.S296C|C14orf118_uc001xsl.2_RNA NM_017926 NP_060396 Q9NWQ4 CN118_HUMAN hypothetical protein LOC55668 isoform 1 296 ovary(2)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(234;0.0172) CTTTTACCTTCTCGGCCAGCT 0.443 NaN 0 0 0 1 0 22 57 C14orf4 64207 broad.mit.edu 37 14 77493965 77493965 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:77493965C>T uc001xsy.2 - 1 1070 c.171G>A c.(169-171)CTG>CTA p.L57L NM_024496 NP_078772 Q9H1B7 I2BPL_HUMAN chromosome 14 open reading frame 4 57 nucleus 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.00347)|KIRC - Kidney renal clear cell carcinoma(182;0.0878) GCGCCCGCTTCAGCTGGCGCG 0.502 NaN 0 0 0 1 0 9 18 TMEM63C 57156 broad.mit.edu 37 14 77706018 77706018 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:77706018C>T uc001xtf.2 + 12 1091 c.879C>T c.(877-879)ATC>ATT p.I293I TMEM63C_uc010asq.1_Silent_p.I293I NM_020431 NP_065164 Q9P1W3 TM63C_HUMAN transmembrane protein 63C 293 integral to membrane 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0342) TGATCAGGATCCACCCCTGTG 0.612 NaN 0 0 0 1 0 13 33 POMT2 29954 broad.mit.edu 37 14 77746776 77746776 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:77746776C>T uc001xti.2 - 16 1885 c.1684G>A c.(1684-1686)GAG>AAG p.E562K POMT2_uc001xth.1_Missense_Mutation_p.E260K NM_013382 NP_037514 Q9UKY4 POMT2_HUMAN protein-O-mannosyltransferase 2 562 protein O-linked glycosylation endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding ovary(1) 1 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0292) GACGTGAACTCATTGTCCTTG 0.532 NaN 0 0 0 1 0 30 64 SPTLC2 9517 broad.mit.edu 37 14 78063675 78063675 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:78063675C>T uc001xub.2 - 2 369 c.181G>A c.(181-183)GAA>AAA p.E61K NM_004863 NP_004854 O15270 SPTC2_HUMAN serine palmitoyltransferase, long chain base 61 EAFE -> TLAR (in Ref. 5; AAC50871). integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups upper_aerodigestive_tract(1)|ovary(1) 2 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0346) L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) TCAAAAGCTTCATTAAACGGT 0.383 NaN 0 0 0 1 0 8 46 PTPN21 11099 broad.mit.edu 37 14 88945337 88945337 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:88945337G>C uc001xwv.3 - 13 2769 c.2438C>G c.(2437-2439)TCT>TGT p.S813C PTPN21_uc010twc.1_Missense_Mutation_p.S609C NM_007039 NP_008970 Q16825 PTN21_HUMAN protein tyrosine phosphatase, non-receptor type 813 cytoplasm|cytoskeleton binding|protein tyrosine phosphatase activity ovary(3)|skin(1) 4 TTTCTTCAGAGAGTCCCTCCG 0.662 NaN 0 0 0 1 0 42 110 EML5 161436 broad.mit.edu 37 14 89131686 89131686 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:89131686G>A uc001xxg.2 - 23 3458 c.3272C>T c.(3271-3273)TCA>TTA p.S1091L EML5_uc001xxf.2_5'UTR|EML5_uc001xxh.1_Missense_Mutation_p.S230L NM_183387 NP_899243 Q05BV3 EMAL5_HUMAN echinoderm microtubule associated protein like 1091 WD 18. cytoplasm|microtubule ovary(3) 3 CTTACCAGGTGAAAATCGAAT 0.333 NaN 0 0 0 1 0 6 18 TTC7B 145567 broad.mit.edu 37 14 91282539 91282539 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:91282539G>A uc001xyp.2 - 1 223 c.101C>T c.(100-102)TCG>TTG p.S34L NM_001010854 NP_001010854 Q86TV6 TTC7B_HUMAN tetratricopeptide repeat domain 7B 34 binding ovary(2) 2 Melanoma(154;0.222) GAGCTTGGCCGACAGCTGCTT 0.418 NaN 0 0 0 1 0 10 39 RPS6KA5 9252 broad.mit.edu 37 14 91372534 91372534 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:91372534G>A uc001xys.2 - 8 1131 c.916C>T c.(916-918)CCA>TCA p.P306S RPS6KA5_uc010twi.1_Missense_Mutation_p.P227S|RPS6KA5_uc001xyt.2_Missense_Mutation_p.P306S|RPS6KA5_uc010att.1_RNA NM_004755 NP_004746 O75582 KS6A5_HUMAN ribosomal protein S6 kinase, polypeptide 5 306 Protein kinase 1. axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytoplasm|nucleoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity ovary(1) 1 all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146) Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201) GCATCACGTGGACCACATCCC 0.408 NaN 0 0 0 1 0 12 69 ATXN3 4287 broad.mit.edu 37 14 92560118 92560118 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:92560118C>G uc001yac.3 - 4 361 c.292G>C c.(292-294)GAG>CAG p.E98Q ATXN3_uc010aug.2_Missense_Mutation_p.E83Q|ATXN3_uc001yad.3_Missense_Mutation_p.E43Q|ATXN3_uc010auh.2_Intron|ATXN3_uc001yae.3_Intron|ATXN3_uc010twl.1_Intron NM_004993 NP_004984 P54252 ATX3_HUMAN ataxin 3 reference isoform 98 Josephin. cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent cytoplasm|nuclear matrix|nucleoplasm cysteine-type peptidase activity|protein binding 0 all_cancers(154;0.0768) COAD - Colon adenocarcinoma(157;0.224) CTCTGATACTCTGGACTGTTG 0.333 NaN 0 0 0 1 0 15 62 KIAA1409 57578 broad.mit.edu 37 14 94044269 94044269 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:94044269C>T uc001ybv.1 + 15 1845 c.1762C>T c.(1762-1764)CGG>TGG p.R588W KIAA1409_uc001ybs.1_Missense_Mutation_p.R588W NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 765 integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) GAGTCCGTTTCGGAGTCCTTT 0.448 NaN 0 0 0 1 0 37 168 EML1 2009 broad.mit.edu 37 14 100405533 100405533 + Splice_Site SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:100405533G>T uc001ygs.2 + 21 2261 c.2192_splice c.e21-1 p.G731_splice EML1_uc010tww.1_Splice_Site_p.G719_splice|EML1_uc001ygr.2_Splice_Site_p.G750_splice NM_004434 NP_004425 O00423 EMAL1_HUMAN echinoderm microtubule associated protein like 1 cytoplasm|microtubule|microtubule associated complex calcium ion binding|protein binding large_intestine(2)|pancreas(1)|ovary(1)|skin(1) 5 Melanoma(154;0.0879)|all_epithelial(191;0.216) CTTTGTTTTAGGAGTGTGGCC 0.572 NaN 1 0 1.02788e-11 1 1.07753e-11 16 77 EML1 2009 broad.mit.edu 37 14 100405640 100405640 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:100405640C>G uc001ygs.2 + 21 2367 c.2298C>G c.(2296-2298)TTC>TTG p.F766L EML1_uc010tww.1_Missense_Mutation_p.F754L|EML1_uc001ygr.2_Missense_Mutation_p.F785L NM_004434 NP_004425 O00423 EMAL1_HUMAN echinoderm microtubule associated protein like 1 766 WD 10. cytoplasm|microtubule|microtubule associated complex calcium ion binding|protein binding large_intestine(2)|pancreas(1)|ovary(1)|skin(1) 5 Melanoma(154;0.0879)|all_epithelial(191;0.216) TGCACCTCTTCTCATACCCCT 0.537 NaN 0 0 0 1 0 20 67 BEGAIN 57596 broad.mit.edu 37 14 101005143 101005143 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:101005143G>A uc010txa.1 - 6 1091 c.945C>T c.(943-945)GCC>GCT p.A315A BEGAIN_uc001yhp.2_Silent_p.A251A|BEGAIN_uc001yhq.2_Silent_p.A315A NM_001159531 NP_001153003 Q9BUH8 BEGIN_HUMAN brain-enriched guanylate kinase-associated 315 cytoplasm|membrane protein binding 0 Melanoma(154;0.212) TCAGCGTGCTGGCCTGCGCGT 0.672 NaN 0 0 0 1 0 9 17 BEGAIN 57596 broad.mit.edu 37 14 101005461 101005461 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:101005461G>A uc010txa.1 - 6 773 c.627C>T c.(625-627)TTC>TTT p.F209F BEGAIN_uc001yhp.2_Silent_p.F145F|BEGAIN_uc001yhq.2_Silent_p.F209F NM_001159531 NP_001153003 Q9BUH8 BEGIN_HUMAN brain-enriched guanylate kinase-associated 209 cytoplasm|membrane protein binding 0 Melanoma(154;0.212) CCCCGTCGCAGAAGGCCAGGT 0.692 NaN 0 0 0 1 0 10 29 PLD4 122618 broad.mit.edu 37 14 105397102 105397102 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:105397102C>T uc001ypu.1 + 7 882 c.741C>T c.(739-741)ATC>ATT p.I247I PLD4_uc010tyl.1_Silent_p.I254I NM_138790 NP_620145 Q96BZ4 PLD4_HUMAN phospholipase D4 247 lipid catabolic process integral to membrane NAPE-specific phospholipase D activity|phospholipase D activity central_nervous_system(1)|skin(1) 2 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116) Choline(DB00122) GCGCTGTCATCTATAACTGCA 0.617 NaN 0 0 0 1 0 39 119 AHNAK2 113146 broad.mit.edu 37 14 105410848 105410848 + Nonsense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:105410848G>T uc010axc.1 - 7 11060 c.10940C>A c.(10939-10941)TCA>TAA p.S3647* AHNAK2_uc001ypx.2_Nonsense_Mutation_p.S3547* NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3647 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TACCCTGAATGACGGCATCTT 0.587 NaN 1 0 1.07134e-49 1 1.14723e-49 85 307 AHNAK2 113146 broad.mit.edu 37 14 105415185 105415185 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:105415185G>A uc010axc.1 - 7 6723 c.6603C>T c.(6601-6603)CTC>CTT p.L2201L AHNAK2_uc001ypx.2_Silent_p.L2101L NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 2201 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GCTGAATGCTGAGGTCAGTGG 0.637 NaN 0 0 0 1 0 78 135 MAGEL2 54551 broad.mit.edu 37 15 23889330 23889330 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr15:23889330C>T uc001ywj.3 - 1 1846 c.1751G>A c.(1750-1752)CGA>CAA p.R584Q NM_019066 NP_061939 MAGE-like protein 2 0 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177) CAGGAATGCTCGAGGGCCCCA 0.512 NaN 0 0 0 1 0 23 51 APBA2 321 broad.mit.edu 37 15 29367150 29367150 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr15:29367150G>A uc001zck.2 + 4 1185 c.978G>A c.(976-978)AGG>AGA p.R326R APBA2_uc010azj.2_Silent_p.R326R|APBA2_uc010uat.1_Silent_p.R326R|APBA2_uc001zcl.2_Silent_p.R326R|APBA2_uc001zcm.1_Silent_p.R30R NM_005503 NP_005494 Q99767 APBA2_HUMAN amyloid beta A4 precursor protein-binding, 326 nervous system development|protein transport protein binding 0 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) AGCAGCCAAGGAAGCAGCAGC 0.418 NaN 0 0 0 1 0 13 28 CHRFAM7A 89832 broad.mit.edu 37 15 30659650 30659650 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr15:30659650C>T uc001zdt.1 - 9 1257 c.691G>A c.(691-693)GAC>AAC p.D231N DKFZP434L187_uc001zds.2_Intron|CHRFAM7A_uc001zdu.1_Missense_Mutation_p.D140N|CHRFAM7A_uc010azn.2_Missense_Mutation_p.D140N NM_139320 NP_647536 Q494W8 CRFM7_HUMAN CHRNA7-FAM7A fusion isoform 1 231 integral to membrane|postsynaptic membrane extracellular ligand-gated ion channel activity skin(1) 1 all_lung(180;3.42e-11)|Breast(32;0.000153) all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153) CCGTCGGGGTCGTGGTGGTGG 0.597 NaN 0 0 0 1 0 12 68 MTMR10 54893 broad.mit.edu 37 15 31239356 31239356 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr15:31239356G>A uc001zfh.1 - 14 1623 c.1525C>T c.(1525-1527)CAC>TAC p.H509Y MTMR10_uc010ubk.1_5'UTR|MTMR10_uc001zfg.1_Missense_Mutation_p.H90Y|MTMR10_uc010azx.1_Missense_Mutation_p.H261Y|MTMR10_uc001zfi.1_Missense_Mutation_p.H261Y|MTMR10_uc001zfj.2_Missense_Mutation_p.H427Y|MTMR10_uc001zfk.2_Missense_Mutation_p.H261Y NM_017762 NP_060232 Q9NXD2 MTMRA_HUMAN myotubularin related protein 10 509 Myotubularin phosphatase. phosphatase activity ovary(1) 1 all_lung(180;2.81e-11) all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174) ACTCGCTGGTGAGGGGAGTTG 0.473 NaN 0 0 0 1 0 31 109 TRPM1 4308 broad.mit.edu 37 15 31360134 31360134 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr15:31360134G>A uc001zfm.2 - 4 503 c.375C>T c.(373-375)ATC>ATT p.I125I TRPM1_uc010azy.2_Silent_p.I38I|TRPM1_uc001zfl.2_RNA|uc010ubm.1_5'Flank|MIR211_hsa-mir-211|MI0000287_5'Flank|uc010ubn.1_5'Flank NM_002420 NP_002411 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, 125 Extracellular (Potential). cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity ovary(2)|pancreas(1)|skin(1) 4 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) TAGCAGCCTTGATCAGGCCTT 0.547 NaN 0 0 0 1 0 38 131 RYR3 6263 broad.mit.edu 37 15 34061318 34061318 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr15:34061318G>A uc001zhi.2 + 62 8831 c.8761G>A c.(8761-8763)GAT>AAT p.D2921N RYR3_uc010bar.2_Missense_Mutation_p.D2921N NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 2921 Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TCCAGGTAGTGATTCTACTAC 0.438 NaN 0 0 0 1 0 24 67 C15orf54 400360 broad.mit.edu 37 15 39544555 39544555 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr15:39544555G>C uc001zkg.2 + 2 587 c.219G>C c.(217-219)ATG>ATC p.M73I NM_207445 NP_997328 Q8N8G6 CO054_HUMAN hypothetical protein LOC400360 73 0 all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198) GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706) TGTCAGAAATGACTTTCAGGG 0.423 NaN 0 0 0 1 0 66 144 DISP2 85455 broad.mit.edu 37 15 40655912 40655912 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr15:40655912C>T uc001zlk.1 + 2 295 c.206C>T c.(205-207)TCT>TTT p.S69F NM_033510 NP_277045 A7MBM2 DISP2_HUMAN dispatched B 69 smoothened signaling pathway integral to membrane ovary(2) 2 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247) CCTTCCAGCTCTTCAGGACCC 0.637 NaN 0 0 0 1 0 48 149 UBR1 197131 broad.mit.edu 37 15 43294805 43294805 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr15:43294805G>A uc001zqq.2 - 32 3673 c.3607C>T c.(3607-3609)CTG>TTG p.L1203L NM_174916 NP_777576 Q8IWV7 UBR1_HUMAN ubiquitin protein ligase E3 component n-recognin 1203 cellular response to leucine|negative regulation of TOR signaling cascade cytosol leucine binding|zinc ion binding lung(1) 1 all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214) GTATTGCACAGAGATTTGCAA 0.343 NaN 0 0 0 1 0 14 72 DUT 1854 broad.mit.edu 37 15 48623792 48623792 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr15:48623792G>C uc001zws.2 + 1 172 c.80G>C c.(79-81)CGA>CCA p.R27P DUT_uc001zwt.2_Intron|DUT_uc001zwu.2_RNA|DUT_uc001zwv.2_5'Flank|DUT_uc001zww.2_5'Flank|uc010ben.1_RNA NM_001025248 NP_001020419 P33316 DUT_HUMAN deoxyuridine triphosphatase isoform 1 precursor 27 DNA replication|dUTP metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process mitochondrion|nucleoplasm dUTP diphosphatase activity|protein binding 0 all_lung(180;0.00265) all cancers(107;2.66e-09)|GBM - Glioblastoma multiforme(94;6.76e-07) CAAAACGCGCGAGGCGCACGG 0.701 NaN Modulation_of_nucleotide_pools 0 0 0 1 0 3 12 USP8 9101 broad.mit.edu 37 15 50769684 50769684 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr15:50769684G>A uc001zym.3 + 11 1706 c.1206G>A c.(1204-1206)AAG>AAA p.K402K USP8_uc001zyk.1_Silent_p.K103K|USP8_uc001zyl.3_Silent_p.K402K|USP8_uc001zyn.3_Silent_p.K402K|USP8_uc010ufh.1_Silent_p.K325K|USP8_uc010bev.1_Silent_p.K31K NM_001128611 NP_001122083 P40818 UBP8_HUMAN ubiquitin specific peptidase 8 402 cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process cytosol|early endosome|extrinsic to plasma membrane|nucleus cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity lung(1)|central_nervous_system(1) 2 all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771) CTAGTATAAAGAATGTTCCAC 0.284 NaN 0 0 0 1 0 20 81 DMXL2 23312 broad.mit.edu 37 15 51783938 51783938 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr15:51783938G>C uc002abf.2 - 20 5015 c.4790C>G c.(4789-4791)TCT>TGT p.S1597C DMXL2_uc010ufy.1_Missense_Mutation_p.S1597C|DMXL2_uc010bfa.2_Missense_Mutation_p.S961C NM_015263 NP_056078 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 1597 cell junction|synaptic vesicle membrane Rab GTPase binding ovary(6)|skin(3) 9 all cancers(107;0.00494) ATGGCATGTAGAGACACCTAA 0.363 NaN 0 0 0 1 0 30 77 GNB5 10681 broad.mit.edu 37 15 52416714 52416714 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr15:52416714C>T uc002abt.1 - 12 1197 c.1132G>A c.(1132-1134)GAT>AAT p.D378N GNB5_uc002abr.1_Missense_Mutation_p.D336N|GNB5_uc002abs.1_Missense_Mutation_p.D266N NM_016194 NP_057278 O14775 GBB5_HUMAN guanine nucleotide-binding protein, beta-5 378 WD 7. heterotrimeric G-protein complex GTPase activity|signal transducer activity lung(1) 1 all cancers(107;0.0163) GCAGTCCCATCGGGGGAAACT 0.498 NaN 0 0 0 1 0 18 65 MYO1E 4643 broad.mit.edu 37 15 59466040 59466040 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr15:59466040C>G uc002aga.2 - 21 2611 c.2239G>C c.(2239-2241)GGG>CGG p.G747R MIR2116_hsa-mir-2116|MI0010635_5'Flank NM_004998 NP_004989 Q12965 MYO1E_HUMAN myosin IE 747 actin filament-based movement myosin complex actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity central_nervous_system(3) 3 all cancers(107;0.207) TCTTCCATCCCAATATAATCC 0.458 NaN 0 0 0 1 0 55 182 GCNT3 9245 broad.mit.edu 37 15 59910809 59910809 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr15:59910809G>A uc002age.2 + 3 821 c.372G>A c.(370-372)CTG>CTA p.L124L GCNT3_uc002agd.2_Silent_p.L124L NM_004751 NP_004742 O95395 GCNT3_HUMAN glucosaminyl (N-acetyl) transferase 3, mucin 124 Lumenal (Potential). protein O-linked glycosylation Golgi membrane|integral to membrane|membrane fraction beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity ovary(1)|central_nervous_system(1) 2 AGTTCCCACTGAGCAAAGAAG 0.473 NaN 0 0 0 1 0 20 58 GCNT3 9245 broad.mit.edu 37 15 59911184 59911184 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr15:59911184G>A uc002age.2 + 3 1196 c.747G>A c.(745-747)AGG>AGA p.R249R GCNT3_uc002agd.2_Silent_p.R249R NM_004751 NP_004742 O95395 GCNT3_HUMAN glucosaminyl (N-acetyl) transferase 3, mucin 249 Lumenal (Potential). protein O-linked glycosylation Golgi membrane|integral to membrane|membrane fraction beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity ovary(1)|central_nervous_system(1) 2 TGAATGGGAGGAATAGCATGG 0.458 NaN 0 0 0 1 0 58 139 RORA 6095 broad.mit.edu 37 15 60789729 60789729 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr15:60789729C>T uc002agv.2 - 12 1752 c.1596G>A c.(1594-1596)GTG>GTA p.V532V uc002ags.1_Intron|RORA_uc002agt.3_Silent_p.V444V|RORA_uc002agw.2_Silent_p.V524V|RORA_uc002agx.2_Silent_p.V499V NM_134260 NP_599022 P35398 RORA_HUMAN RAR-related orphan receptor A isoform b 532 Ligand-binding. positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding large_intestine(1)|ovary(1) 2 AATGAAGTCGCACAATGTCTG 0.378 NaN 0 0 0 1 0 10 44 HERC1 8925 broad.mit.edu 37 15 63916468 63916468 + Missense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr15:63916468G>T uc002amp.2 - 72 13482 c.13334C>A c.(13333-13335)CCT>CAT p.P4445H NM_003922 NP_003913 Q15751 HERC1_HUMAN hect domain and RCC1-like domain 1 4445 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity ovary(6)|breast(6)|lung(5)|central_nervous_system(2) 19 GGCTAACAAAGGCCGAAGTTG 0.453 NaN 1 0 5.60225e-13 1 5.88375e-13 31 75 CILP 8483 broad.mit.edu 37 15 65497670 65497670 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr15:65497670C>T uc002aon.2 - 5 740 c.559G>A c.(559-561)GAG>AAG p.E187K NM_003613 NP_003604 O75339 CILP1_HUMAN cartilage intermediate layer protein 187 TSP type-1. negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix ovary(4)|pancreas(2)|skin(1) 7 TCGCTGGCCTCACTGCACAGC 0.617 NaN 0 0 0 1 0 33 97 PTPLAD1 51495 broad.mit.edu 37 15 65847289 65847289 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr15:65847289G>A uc002apc.2 + 3 343 c.195G>A c.(193-195)GTG>GTA p.V65V PTPLAD1_uc002apb.1_RNA|PTPLAD1_uc010uiw.1_Silent_p.V65V NM_016395 NP_057479 Q9P035 HACD3_HUMAN protein tyrosine phosphatase-like A domain 65 CS.|Cytoplasmic (Potential). activation of JUN kinase activity|fatty acid biosynthetic process|I-kappaB kinase/NF-kappaB cascade|Rac protein signal transduction endoplasmic reticulum membrane|integral to membrane GTPase activator activity|lyase activity|protein binding 0 TAGACCTTGTGAAACCAGAGG 0.413 NaN 0 0 0 1 0 39 115 CLN6 54982 broad.mit.edu 37 15 68503654 68503654 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr15:68503654G>A uc002arf.2 - 5 647 c.489C>T c.(487-489)ATC>ATT p.I163I CLN6_uc010ujy.1_Intron|CLN6_uc010ujz.1_Silent_p.I195I NM_017882 NP_060352 Q9NWW5 CLN6_HUMAN CLN6 protein 163 cell death|cholesterol metabolic process|ganglioside metabolic process|glycosaminoglycan metabolic process|lysosomal lumen acidification|positive regulation of proteolysis|protein catabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane protein homodimerization activity 0 CAAAGGAGTCGATCTGAGGGA 0.602 NaN 0 0 0 1 0 28 99 ITGA11 22801 broad.mit.edu 37 15 68609618 68609618 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr15:68609618G>A uc002ari.2 - 21 2787 c.2700C>T c.(2698-2700)TTC>TTT p.F900F ITGA11_uc010bib.2_Silent_p.F900F NM_001004439 NP_001004439 Q9UKX5 ITA11_HUMAN integrin, alpha 11 precursor 900 Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development integrin complex collagen binding|receptor activity kidney(2)|pancreas(1) 3 Tirofiban(DB00775) CCTTGGCCCGGAAGAAGGGAT 0.602 NaN 0 0 0 1 0 26 112 PARP6 56965 broad.mit.edu 37 15 72558264 72558264 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr15:72558264G>C uc002auc.2 - 4 609 c.150C>G c.(148-150)ATC>ATG p.I50M PARP6_uc002aua.2_Translation_Start_Site|PARP6_uc002aub.2_RNA|PARP6_uc002aud.3_RNA|PARP6_uc002auf.1_Missense_Mutation_p.I50M NM_020214 NP_064599 Q2NL67 PARP6_HUMAN poly (ADP-ribose) polymerase family, member 6 50 NAD+ ADP-ribosyltransferase activity 0 TCTCACTGTAGATCTCCTTCA 0.498 NaN 0 0 0 1 0 15 56 HCN4 10021 broad.mit.edu 37 15 73624577 73624577 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr15:73624577G>A uc002avp.2 - 3 2260 c.1266C>T c.(1264-1266)ATC>ATT p.I422I NM_005477 NP_005468 Q9Y3Q4 HCN4_HUMAN hyperpolarization activated cyclic 422 Helical; Name=Segment S5; (Potential). blood circulation|muscle contraction integral to membrane cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity ovary(5)|liver(1) 6 COAD - Colon adenocarcinoma(1;0.142) GCATCATGCCGATGAGGTTCA 0.592 NaN 0 0 0 1 0 16 74 SIN3A 25942 broad.mit.edu 37 15 75715054 75715054 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr15:75715054C>G uc002bai.2 - 3 559 c.300G>C c.(298-300)CAG>CAC p.Q100H SIN3A_uc002baj.2_Missense_Mutation_p.Q100H|SIN3A_uc010uml.1_Missense_Mutation_p.Q100H|SIN3A_uc002bak.3_Missense_Mutation_p.Q100H NM_015477 NP_056292 Q96ST3 SIN3A_HUMAN transcriptional co-repressor Sin3A 100 blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|Sin3 complex protein binding skin(3)|ovary(1)|lung(1) 5 GAGCATGACTCTGGACCACCT 0.562 NaN 0 0 0 1 0 60 117 PTPN9 5780 broad.mit.edu 37 15 75798209 75798209 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr15:75798209C>T uc002bal.2 - 7 1283 c.775G>A c.(775-777)GAT>AAT p.D259N NM_002833 NP_002824 P43378 PTN9_HUMAN protein tyrosine phosphatase, non-receptor type 259 cytoplasmic part non-membrane spanning protein tyrosine phosphatase activity|protein binding lung(1)|skin(1) 2 TCGAAGGGATCTGGGTGGCCG 0.532 NaN 0 0 0 1 0 18 54 FBXO22 26263 broad.mit.edu 37 15 76196329 76196329 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr15:76196329G>A uc002bbk.2 + 1 130 c.25G>A c.(25-27)GAG>AAG p.E9K FBXO22_uc002bbj.1_Missense_Mutation_p.E9K|FBXO22_uc002bbl.2_5'UTR NM_147188 NP_671717 Q8NEZ5 FBX22_HUMAN F-box only protein 22 isoform a 9 VGCCGECR -> AGACGGP (in Ref. 5; AAF04523). ubiquitin-dependent protein catabolic process ubiquitin-protein ligase activity 0 CTGCTGCGGCGAGTGCCGCGG 0.677 NaN 0 0 0 1 0 5 7 SCAPER 49855 broad.mit.edu 37 15 76994204 76994204 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr15:76994204G>A uc002bby.2 - 19 2462 c.2403C>T c.(2401-2403)ATC>ATT p.I801I SCAPER_uc010bkr.2_Silent_p.I109I|SCAPER_uc002bbx.2_Silent_p.I555I|SCAPER_uc002bbz.1_Silent_p.I672I|SCAPER_uc002bca.1_Silent_p.I666I NM_020843 NP_065894 Q9BY12 SCAPE_HUMAN S-phase cyclin A-associated protein in the ER 800 C2H2-type. endoplasmic reticulum|nucleus zinc ion binding large_intestine(1)|lung(1)|ovary(1) 3 CCTCTGAAGAGATCTGAAAGC 0.378 NaN 0 0 0 1 0 8 31 CRABP1 1381 broad.mit.edu 37 15 78635840 78635840 + Splice_Site SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr15:78635840G>A uc002bdp.2 + 3 355 c.250_splice c.e3-1 p.S84_splice NM_004378 NP_004369 P29762 RABP1_HUMAN cellular retinoic acid binding protein 1 multicellular organismal development|signal transduction cytoplasm retinal binding|retinol binding|transporter activity 0 Alitretinoin(DB00523)|Etretinate(DB00926) CCCGCCTGCAGAGTTTAGCCA 0.493 NaN 0 0 0 1 0 8 46 KIAA1199 57214 broad.mit.edu 37 15 81199101 81199101 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr15:81199101G>A uc002bfw.1 + 12 1769 c.1509G>A c.(1507-1509)GAG>GAA p.E503E KIAA1199_uc010unn.1_Silent_p.E503E NM_018689 NP_061159 Q8WUJ3 K1199_HUMAN KIAA1199 precursor 503 upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 TGATGGGGGAGATGGAGGACA 0.527 NaN 0 0 0 1 0 19 62 TMC3 342125 broad.mit.edu 37 15 81660670 81660670 + Splice_Site SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr15:81660670C>T uc002bgo.1 - 3 237 c.237_splice c.e3-1 p.R79_splice TMC3_uc010blr.1_Splice_Site|TMC3_uc002bgp.2_Splice_Site_p.R79_splice NM_001080532 NP_001074001 Q7Z5M5 TMC3_HUMAN transmembrane channel-like 3 integral to membrane ovary(1)|liver(1) 2 CTTCGCTTGTCTAAGAGAAGA 0.423 NaN 0 0 0 1 0 58 195 ACAN 176 broad.mit.edu 37 15 89400090 89400090 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr15:89400090G>C uc010upo.1 + 12 4648 c.4274G>C c.(4273-4275)GGA>GCA p.G1425A ACAN_uc010upp.1_Missense_Mutation_p.G1425A|ACAN_uc002bna.2_RNA NM_013227 NP_037359 E7EX88 E7EX88_HUMAN aggrecan isoform 2 precursor 1425 cell adhesion hyaluronic acid binding|sugar binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) ACTGCCCCTGGAGTAGATGAG 0.532 NaN 0 0 0 1 0 73 202 ACAN 176 broad.mit.edu 37 15 89417171 89417171 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr15:89417171G>C uc010upo.1 + 17 7806 c.7432G>C c.(7432-7434)GAG>CAG p.E2478Q ACAN_uc010upp.1_Intron|ACAN_uc002bna.2_RNA NM_013227 NP_037359 E7EX88 E7EX88_HUMAN aggrecan isoform 2 precursor 2478 cell adhesion hyaluronic acid binding|sugar binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) CCAGTGCACAGAGGGGTTTGT 0.642 NaN 0 0 0 1 0 8 39 ACAN 176 broad.mit.edu 37 15 89417256 89417256 + Splice_Site SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr15:89417256G>T uc010upo.1 + 17 7890 c.7516_splice c.e17+1 p.P2506_splice ACAN_uc010upp.1_Intron|ACAN_uc002bna.2_Splice_Site NM_013227 NP_037359 E7EX88 E7EX88_HUMAN aggrecan isoform 2 precursor cell adhesion hyaluronic acid binding|sugar binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) TGCACAGACCGTGAGCATCAC 0.657 NaN 1 0 3.27435e-08 1 3.40091e-08 15 36 CHD2 1106 broad.mit.edu 37 15 93527668 93527668 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr15:93527668G>C uc002bsp.2 + 25 3750 c.3175G>C c.(3175-3177)GAG>CAG p.E1059Q CHD2_uc002bso.1_Missense_Mutation_p.E1059Q NM_001271 NP_001262 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 1059 Glu-rich. regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(1)|skin(1) 2 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) AGAGGAGGAAGAGCGGCAGAA 0.408 NaN 0 0 0 1 0 4 26 CEMP1 752014 broad.mit.edu 37 16 2581056 2581056 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:2581056C>T uc002cqr.2 - 1 375 c.19G>A c.(19-21)GAC>AAC p.D7N NM_001048212 NP_001041677 Q6PRD7 CEMP1_HUMAN cementum protein 1 7 cytoplasm skin(1) 1 TGCTGGCTGTCAGTGCTTGAT 0.617 NaN 0 0 0 1 0 16 73 CLDN6 9074 broad.mit.edu 37 16 3065463 3065463 + Nonsense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:3065463G>T uc002csu.3 - 2 620 c.560C>A c.(559-561)TCG>TAG p.S187* NM_021195 NP_067018 P56747 CLD6_HUMAN claudin 6 187 Cytoplasmic (Potential). calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity 0 GGACCCCCCCGAGGGGCAAGT 0.652 NaN 1 0 1.37285e-15 1 1.44903e-15 16 53 ZSCAN10 84891 broad.mit.edu 37 16 3139503 3139503 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:3139503G>A uc002ctv.1 - 5 1855 c.1767C>T c.(1765-1767)AGC>AGT p.S589S ZSCAN10_uc002cty.1_Silent_p.S250S|ZSCAN10_uc002ctw.1_Silent_p.S507S|ZSCAN10_uc002ctx.1_Silent_p.S517S NM_032805 NP_116194 Q96SZ4 ZSC10_HUMAN zinc finger and SCAN domain containing 10 589 C2H2-type 10. negative regulation of transcription, DNA-dependent|viral reproduction nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 GGGCGCTCTGGCTGAAGCCCT 0.697 NaN 0 0 0 1 0 10 43 C16orf90 646174 broad.mit.edu 37 16 3543964 3543964 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:3543964C>G uc002cvi.2 - 3 424 c.424G>C c.(424-426)GAC>CAC p.D142H NM_001080524 NP_001073993 A8MZG2 CP090_HUMAN hypothetical protein LOC646174 132 0 GCACCCTTGTCTGGGTCCATG 0.632 NaN 0 0 0 1 0 11 17 MGRN1 23295 broad.mit.edu 37 16 4674988 4674988 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:4674988C>G uc002cwz.2 + 1 163 c.27C>G c.(25-27)ATC>ATG p.I9M MGRN1_uc002cxa.2_Missense_Mutation_p.I9M|MGRN1_uc010btx.2_Missense_Mutation_p.I9M|MGRN1_uc010btw.2_Missense_Mutation_p.I9M|MGRN1_uc002cxb.2_Missense_Mutation_p.I9M|MGRN1_uc010uxo.1_Missense_Mutation_p.I9M|MGRN1_uc010uxp.1_Missense_Mutation_p.I9M|MGRN1_uc010uxq.1_RNA NM_001142290 NP_001135762 O60291 MGRN1_HUMAN mahogunin, ring finger 1 isoform 3 9 endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination cytosol|early endosome|nucleus|plasma membrane|plasma membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|skin(1) 2 GCCGCCGCATCGCGGGGGTGG 0.736 NaN 0 0 0 1 0 3 14 PPL 5493 broad.mit.edu 37 16 4945714 4945714 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:4945714G>A uc002cyd.1 - 10 1066 c.976C>T c.(976-978)CAC>TAC p.H326Y NM_002705 NP_002696 O60437 PEPL_HUMAN periplakin 326 Potential.|Spectrin 2. keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton ovary(4)|central_nervous_system(1)|skin(1) 6 ACGTCTTCGTGAAACTAGGGG 0.582 NaN 0 0 0 1 0 38 97 USP7 7874 broad.mit.edu 37 16 8997182 8997182 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:8997182G>C uc002czl.2 - 16 1981 c.1782C>G c.(1780-1782)TTC>TTG p.F594L USP7_uc010uyk.1_Missense_Mutation_p.F495L|USP7_uc002czj.2_RNA|USP7_uc010uyj.1_Missense_Mutation_p.F495L|USP7_uc002czk.2_Missense_Mutation_p.F578L|USP7_uc010uyl.1_RNA NM_003470 NP_003461 Q93009 UBP7_HUMAN ubiquitin specific peptidase 7 594 interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process cytoplasm|PML body cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(3) 3 TCAATACTTTGAACACAGTGT 0.473 NaN 0 0 0 1 0 14 57 RRN3 54700 broad.mit.edu 37 16 15157071 15157071 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:15157071G>C uc002dde.2 - 17 1844 c.1776C>G c.(1774-1776)TTC>TTG p.F592L PDXDC1_uc002ddc.2_Intron|RRN3_uc010uzp.1_Missense_Mutation_p.F460L|RRN3_uc010uzq.1_Missense_Mutation_p.F562L NM_018427 NP_060897 Q9NYV6 RRN3_HUMAN RRN3 RNA polymerase I transcription factor 592 Interaction with EIF3L.|Interaction with TWISTNB. regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase I promoter nucleolus|nucleoplasm ovary(1) 1 TGGGTTTCTTGAACTCCTGTA 0.403 NaN 0 0 0 1 0 33 115 KIAA0430 9665 broad.mit.edu 37 16 15718642 15718642 + Nonsense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:15718642G>A uc002ddr.2 - 10 2447 c.2254C>T c.(2254-2256)CAG>TAG p.Q752* KIAA0430_uc002ddq.2_Nonsense_Mutation_p.Q608*|KIAA0430_uc010uzv.1_Nonsense_Mutation_p.Q748*|KIAA0430_uc010uzw.1_Nonsense_Mutation_p.Q750* NM_014647 NP_055462 Q9Y4F3 LKAP_HUMAN limkain b1 751 peroxisome nucleotide binding|RNA binding 0 GACCAAGACTGAGATGCGAGC 0.393 NaN 0 0 0 1 0 28 97 MYH11 4629 broad.mit.edu 37 16 15835629 15835629 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:15835629C>T uc002ddy.2 - 21 2747 c.2640G>A c.(2638-2640)CAG>CAA p.Q880Q MYH11_uc002ddv.2_Silent_p.Q887Q|MYH11_uc002ddw.2_Silent_p.Q880Q|MYH11_uc002ddx.2_Silent_p.Q887Q|MYH11_uc010bvg.2_Silent_p.Q712Q NM_002474 NP_002465 P35749 MYH11_HUMAN smooth muscle myosin heavy chain 11 isoform 880 Potential. axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1) 15 GCGAGTGCTTCTGTTCCAGCT 0.612 NaN T CBFB AML 0 0 0 1 0 86 245 ABCC1 4363 broad.mit.edu 37 16 16184358 16184358 + Nonsense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:16184358C>T uc010bvi.2 + 19 2732 c.2557C>T c.(2557-2559)CAG>TAG p.Q853* ABCC1_uc010bvj.2_Nonsense_Mutation_p.Q794*|ABCC1_uc010bvk.2_Nonsense_Mutation_p.Q797*|ABCC1_uc010bvl.2_Nonsense_Mutation_p.Q853*|ABCC1_uc010bvm.2_Nonsense_Mutation_p.Q738*|ABCC1_uc002del.3_Nonsense_Mutation_p.Q737* NM_004996 NP_004987 P33527 MRP1_HUMAN ATP-binding cassette, sub-family C, member 1 853 ABC transporter 1.|Cytoplasmic. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4) 4 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) GGGCTCCTACCAGGAGCTGCT 0.607 NaN 0 0 0 1 0 8 37 XYLT1 64131 broad.mit.edu 37 16 17211612 17211612 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:17211612C>T uc002dfa.2 - 11 2533 c.2448G>A c.(2446-2448)CTG>CTA p.L816L NM_022166 NP_071449 Q86Y38 XYLT1_HUMAN xylosyltransferase I 816 Lumenal (Potential). glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity ovary(4) 4 CCCCAGGCCTCAGGGGCAAGT 0.552 NaN 0 0 0 1 0 13 77 ERN2 10595 broad.mit.edu 37 16 23703600 23703600 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:23703600G>C uc002dma.3 - 18 2466 c.2297C>G c.(2296-2298)TCT>TGT p.S766C ERN2_uc010bxp.2_Missense_Mutation_p.S714C NM_033266 NP_150296 Q76MJ5 ERN2_HUMAN endoplasmic reticulum to nucleus signalling 2 718 Protein kinase.|Cytoplasmic (Potential). apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) GCTGCCACCAGAAAGCACGTA 0.567 NaN 0 0 0 1 0 32 104 CHP2 63928 broad.mit.edu 37 16 23767007 23767007 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:23767007G>A uc002dmb.1 + 2 516 c.93G>A c.(91-93)CTG>CTA p.L31L NM_022097 NP_071380 O43745 CHP2_HUMAN hepatocellular carcinoma antigen gene 520 31 EF-hand 1. calcium ion binding central_nervous_system(1) 1 GBM - Glioblastoma multiforme(48;0.0144) TGCTCCGCCTGCACCACCGGT 0.637 NaN 0 0 0 1 0 22 87 GTF3C1 2975 broad.mit.edu 37 16 27544708 27544708 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:27544708C>T uc002dov.1 - 5 793 c.753G>A c.(751-753)AGG>AGA p.R251R GTF3C1_uc002dou.2_Silent_p.R251R NM_001520 NP_001511 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 251 transcription factor TFIIIC complex DNA binding|protein binding ovary(2)|pancreas(1)|breast(1)|skin(1) 5 ATTTGCTCCTCCTGCAAGAAA 0.448 NaN 0 0 0 1 0 21 57 XPO6 23214 broad.mit.edu 37 16 28167708 28167708 + Missense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:28167708G>T uc002dpa.1 - 7 1285 c.784C>A c.(784-786)CTG>ATG p.L262M XPO6_uc002dpb.1_Missense_Mutation_p.L248M|XPO6_uc010vcp.1_Missense_Mutation_p.L262M NM_015171 NP_055986 Q96QU8 XPO6_HUMAN exportin 6 262 protein export from nucleus protein binding|protein transporter activity ovary(1)|skin(1) 2 CTGGCAGACAGAGGAATCCAA 0.517 NaN 1 0 2.37509e-13 1 2.49598e-13 22 92 SULT1A2 6799 broad.mit.edu 37 16 28603660 28603660 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:28603660C>T uc002dqg.1 - 7 1050 c.699G>A c.(697-699)AAG>AAA p.K233K uc010vct.1_Intron|SULT1A2_uc002dqh.1_Silent_p.K233K NM_177528 NP_803564 P50226 ST1A2_HUMAN sulfotransferase family, cytosolic, 1A, 233 3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process cytosol aryl sulfotransferase activity|flavonol 3-sulfotransferase activity 0 TAGGGTTCTTCTTCATCTCCT 0.567 NaN 0 0 0 1 0 46 182 SH2B1 25970 broad.mit.edu 37 16 28883708 28883708 + Nonsense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:28883708C>T uc002dri.2 + 9 2150 c.1711C>T c.(1711-1713)CAG>TAG p.Q571* uc010vct.1_Intron|SH2B1_uc010vdc.1_Nonsense_Mutation_p.Q261*|SH2B1_uc002drj.2_Nonsense_Mutation_p.Q571*|SH2B1_uc002drk.2_Nonsense_Mutation_p.Q571*|SH2B1_uc002drl.2_Nonsense_Mutation_p.Q571*|SH2B1_uc010vdd.1_Nonsense_Mutation_p.Q235*|SH2B1_uc010vde.1_Nonsense_Mutation_p.Q571*|SH2B1_uc002drm.2_Nonsense_Mutation_p.Q571* NM_001145795 NP_001139267 Q9NRF2 SH2B1_HUMAN SH2B adaptor protein 1 isoform 1 571 SH2. blood coagulation|intracellular signal transduction cytosol|membrane|nucleus signal transducer activity ovary(2) 2 CTTCAACTTCCAGGGCAAGGC 0.617 NaN 0 0 0 1 0 20 60 SRCAP 10847 broad.mit.edu 37 16 30750601 30750601 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 G C G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:30750601G>C uc002dze.1 + 34 9625 c.9240G>C c.(9238-9240)AAG>AAC p.K3080N SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.K2875N NM_006662 NP_006653 Q6ZRS2 SRCAP_HUMAN Snf2-related CBP activator protein 3080 interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity ovary(3)|skin(1) 4 Colorectal(24;0.198) GAGGACGGAAGAGTGGAGGGT 0.587 NaN 0 0 0 1 0 16 48 ZNF646 9726 broad.mit.edu 37 16 31087769 31087769 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:31087769G>A uc002eap.2 + 2 413 c.124G>A c.(124-126)GAC>AAC p.D42N ZNF668_uc002eao.2_5'Flank NM_014699 NP_055514 O15015 ZN646_HUMAN zinc finger protein 646 42 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(2) 2 TGAGGAGGCTGACAGCATCCC 0.632 NaN 0 0 0 1 0 48 117 ITGAM 3684 broad.mit.edu 37 16 31283172 31283172 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:31283172C>G uc002ebq.2 + 7 661 c.563C>G c.(562-564)TCT>TGT p.S188C ITGAM_uc002ebr.2_Missense_Mutation_p.S188C NM_000632 NP_000623 P11215 ITAM_HUMAN integrin alpha M isoform 2 precursor 188 VWFA.|Extracellular (Potential). blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity kidney(1) 1 CCGCAGTTCTCTTTGATGCAG 0.517 NaN 0 0 0 1 0 16 46 VPS35 55737 broad.mit.edu 37 16 46694412 46694412 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:46694412C>T uc002eef.3 - 17 2462 c.2363G>A c.(2362-2364)GGG>GAG p.G788E VPS35_uc002eed.2_3'UTR|VPS35_uc002eee.2_Missense_Mutation_p.G749E NM_018206 NP_060676 Q96QK1 VPS35_HUMAN vacuolar protein sorting 35 788 protein transport|retrograde transport, endosome to Golgi cytosol|endosome|membrane protein binding 0 all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) ATAAATTGGCCCCTCGGATTC 0.438 NaN 0 0 0 1 0 20 84 ABCC12 94160 broad.mit.edu 37 16 48162609 48162609 + Nonsense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:48162609G>A uc002efc.1 - 9 1622 c.1276C>T c.(1276-1278)CAA>TAA p.Q426* ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA|ABCC12_uc002efe.1_Nonsense_Mutation_p.Q426* NM_033226 NP_150229 Q96J65 MRP9_HUMAN ATP-binding cassette protein C12 426 integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(2)|skin(1) 3 all_cancers(37;0.0474)|all_lung(18;0.047) TCTTCTGGTTGGGTGATGTAA 0.413 NaN 0 0 0 1 0 27 90 LONP2 83752 broad.mit.edu 37 16 48290643 48290643 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:48290643G>A uc002efi.1 + 3 680 c.591G>A c.(589-591)GAG>GAA p.E197E LONP2_uc010vgm.1_Intron|LONP2_uc002efj.1_Intron NM_031490 NP_113678 Q86WA8 LONP2_HUMAN peroxisomal LON protease-like 197 Lon. misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing nucleoid|peroxisomal matrix ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity 0 GCAACAAAGAGAAACTCCAGG 0.393 NaN 0 0 0 1 0 15 55 CHD9 80205 broad.mit.edu 37 16 53352146 53352146 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:53352146G>A uc002ehb.2 + 36 7771 c.7607G>A c.(7606-7608)AGA>AAA p.R2536K CHD9_uc002egy.2_Missense_Mutation_p.R2520K|CHD9_uc002ehc.2_Missense_Mutation_p.R2521K|CHD9_uc002ehf.2_Missense_Mutation_p.R1634K|CHD9_uc010cbw.2_Missense_Mutation_p.R602K NM_025134 NP_079410 Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 2536 cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1) 7 all_cancers(37;0.0212) CATGAGGGAAGACCCAAACAA 0.338 NaN 0 0 0 1 0 3 22 CAPNS2 84290 broad.mit.edu 37 16 55601337 55601337 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:55601337C>G uc002eid.1 + 1 754 c.669C>G c.(667-669)TTC>TTG p.F223L LPCAT2_uc002eie.3_Intron|LPCAT2_uc002eic.2_Intron NM_032330 NP_115706 Q96L46 CPNS2_HUMAN calpain small subunit 2 223 EF-hand 4. cytoplasm|plasma membrane calcium ion binding 0 TTCGTGCCTTCAAGTCTCTGG 0.443 NaN 0 0 0 1 0 58 153 OGFOD1 55239 broad.mit.edu 37 16 56485527 56485527 + Missense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:56485527G>T uc002ejb.2 + 1 104 c.3G>T c.(1-3)ATG>ATT p.M1I OGFOD1_uc002ejc.2_Intron|NUDT21_uc002eja.2_5'Flank NM_018233 NP_060703 Q8N543 OGFD1_HUMAN 2-oxoglutarate and iron-dependent oxygenase 1 iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen skin(1) 1 Vitamin C(DB00126) GGGAAGAGATGAATGGGAAGC 0.587 NaN 1 0 5.20006e-24 1 5.54389e-24 42 177 HERPUD1 9709 broad.mit.edu 37 16 56970630 56970630 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:56970630C>G uc002eke.1 + 4 741 c.332C>G c.(331-333)TCT>TGT p.S111C HERPUD1_uc010vhj.1_Missense_Mutation_p.S172C|HERPUD1_uc002ekf.1_Missense_Mutation_p.S110C|HERPUD1_uc002ekg.1_Missense_Mutation_p.S86C|HERPUD1_uc010cco.1_Missense_Mutation_p.S172C|HERPUD1_uc010ccp.1_Missense_Mutation_p.S171C|HERPUD1_uc002ekh.1_5'UTR NM_014685 NP_055500 Q15011 HERP1_HUMAN homocysteine-inducible, endoplasmic reticulum 111 Cytoplasmic (Potential). endoplasmic reticulum membrane|integral to membrane protein binding 0 CCTGCTGGTTCTAATCGGGGA 0.453 NaN T ERG prostate 0 0 0 1 0 14 53 GPR97 222487 broad.mit.edu 37 16 57710248 57710248 + Nonsense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:57710248C>T uc002emh.2 + 3 446 c.343C>T c.(343-345)CAG>TAG p.Q115* GPR97_uc010cdc.2_Nonsense_Mutation_p.Q115*|GPR97_uc010vhv.1_Intron|GPR97_uc010cdd.2_RNA NM_170776 NP_740746 Q86Y34 GPR97_HUMAN G protein-coupled receptor 97 precursor 115 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1) 1 GGAGCCCTCTCAGGTGAAGAG 0.473 NaN 0 0 0 1 0 23 67 RLTPR 146206 broad.mit.edu 37 16 67681650 67681650 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:67681650G>C uc002etn.2 + 12 1059 c.939G>C c.(937-939)CAG>CAC p.Q313H RLTPR_uc010cel.1_Missense_Mutation_p.Q313H|RLTPR_uc010vjr.1_Missense_Mutation_p.Q313H NM_001013838 NP_001013860 Q6F5E8 LR16C_HUMAN RGD motif, leucine rich repeats, tropomodulin 313 LRR 5. breast(1) 1 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232) GCCTGGCCCAGACAGGGTTGA 0.657 NaN 0 0 0 1 0 4 12 RLTPR 146206 broad.mit.edu 37 16 67683002 67683002 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:67683002C>G uc002etn.2 + 18 1735 c.1615C>G c.(1615-1617)CTG>GTG p.L539V RLTPR_uc010cel.1_Missense_Mutation_p.L532V|RLTPR_uc010vjr.1_Missense_Mutation_p.L503V NM_001013838 NP_001013860 Q6F5E8 LR16C_HUMAN RGD motif, leucine rich repeats, tropomodulin 539 LRR 11. breast(1) 1 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232) CATGGTGACTCTGGTGCTGGC 0.617 NaN 0 0 0 1 0 14 25 NUTF2 10204 broad.mit.edu 37 16 67899100 67899100 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:67899100G>C uc002eup.2 + 2 166 c.67G>C c.(67-69)GAT>CAT p.D23H NUTF2_uc010vkf.1_Missense_Mutation_p.D23H NM_005796 NP_005787 P61970 NTF2_HUMAN nuclear transport factor 2 23 NTF2. protein transport cytosol|nuclear pore protein binding|transporter activity 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00443)|Epithelial(162;0.0199)|all cancers(182;0.129) CCAGTTATTTGATAATGATAG 0.493 NaN 0 0 0 1 0 16 49 PRMT7 54496 broad.mit.edu 37 16 68386284 68386284 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:68386284C>T uc002evy.1 + 15 1823 c.1547C>T c.(1546-1548)TCG>TTG p.S516L PRMT7_uc002evx.1_Missense_Mutation_p.S442L|PRMT7_uc010vlg.1_Missense_Mutation_p.S466L|PRMT7_uc002evz.1_Missense_Mutation_p.S288L|PRMT7_uc010cfd.1_Missense_Mutation_p.S8L NM_019023 NP_061896 Q9NVM4 ANM7_HUMAN protein arginine methyltransferase 7 516 cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent cytosol|nucleus [myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding 0 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629) CAGGCAGCCTCGCTGCACGCT 0.617 NaN 0 0 0 1 0 27 81 CDH3 1001 broad.mit.edu 37 16 68721569 68721569 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:68721569C>T uc002ewf.2 + 12 2857 c.1725C>T c.(1723-1725)CAC>CAT p.H575H CDH3_uc010vli.1_Silent_p.H520H NM_001793 NP_001784 P22223 CADH3_HUMAN cadherin 3, type 1 preproprotein 575 Cadherin 5.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception integral to membrane calcium ion binding p.?(1) ovary(3)|breast(1)|skin(1) 5 Ovarian(137;0.0564) OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384) TGTCTCCCCACACCTCCCCTT 0.597 NaN 0 0 0 1 0 23 91 TMCO7 79613 broad.mit.edu 37 16 68961944 68961944 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:68961944G>C uc002ewi.3 + 13 2613 c.2601G>C c.(2599-2601)CAG>CAC p.Q867H NM_024562 NP_078838 Q9C0B7 TMCO7_HUMAN transmembrane and coiled-coil domains 7 867 integral to membrane binding 0 Ovarian(137;0.0568) OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198) GGATAGAGCAGAGAGAAGCAA 0.463 NaN 0 0 0 1 0 5 9 HYDIN 54768 broad.mit.edu 37 16 70975573 70975573 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:70975573C>T uc002ezr.2 - 43 6944 c.6816G>A c.(6814-6816)ATG>ATA p.M2272I NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN hydrocephalus inducing isoform a 2273 Potential. ovary(1)|skin(1) 2 Ovarian(137;0.0654) CCTGGGCCTTCATGGCTGCGT 0.527 NaN 0 0 0 1 0 30 119 TAT 6898 broad.mit.edu 37 16 71610277 71610277 + Silent SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:71610277G>C uc002fap.2 - 2 141 c.42C>G c.(40-42)CTC>CTG p.L14L TAT_uc002faq.2_Silent_p.L14L|TAT_uc002far.2_Silent_p.L14L NM_000353 NP_000344 P17735 ATTY_HUMAN tyrosine aminotransferase 14 2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process cytosol 1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding ovary(2) 2 Ovarian(137;0.125) Kidney(780;0.0157) L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114) GAATTGAGGGGAGGTTGCCTT 0.527 NaN 0 0 0 1 0 20 76 PHLPP2 23035 broad.mit.edu 37 16 71718466 71718466 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:71718466G>A uc002fax.2 - 4 654 c.648C>T c.(646-648)TTC>TTT p.F216F PHLPP2_uc002fav.2_5'Flank|PHLPP2_uc010cgf.2_Silent_p.F216F|PHLPP2_uc002fay.1_Silent_p.F216F NM_015020 NP_055835 Q6ZVD8 PHLP2_HUMAN PH domain and leucine rich repeat protein 216 PH. cytoplasm|membrane|nucleus metal ion binding|phosphoprotein phosphatase activity ovary(1)|central_nervous_system(1) 2 CTGCTGAGCTGAAAGCAAGGG 0.468 NaN 0 0 0 1 0 22 77 HP 3240 broad.mit.edu 37 16 72094738 72094738 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:72094738G>A uc002fbr.3 + 7 1214 c.1170G>A c.(1168-1170)GTG>GTA p.V390V TXNL4B_uc010cgl.2_Intron|HP_uc010cgm.2_Silent_p.V331V|HP_uc002fbt.3_Silent_p.V331V|HP_uc002fbu.1_Silent_p.V128V|HP_uc002fbv.3_Silent_p.V301V|HP_uc002fbw.3_Silent_p.V212V|HP_uc002fbx.3_Silent_p.V212V|HPR_uc002fby.2_5'Flank NM_005143 NP_005134 P00738 HPT_HUMAN haptoglobin isoform 1 preproprotein 390 Peptidase S1. cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide extracellular region|haptoglobin-hemoglobin complex hemoglobin binding|serine-type endopeptidase activity 0 Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114) BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529) GTGTGTATGTGAAGGTGACTT 0.522 NaN 0 0 0 1 0 37 131 ZFHX3 463 broad.mit.edu 37 16 72828402 72828402 + Nonsense_Mutation SNP C C A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:72828402C>A uc002fck.2 - 9 8852 c.8179G>T c.(8179-8181)GAG>TAG p.E2727* ZFHX3_uc002fcl.2_Nonsense_Mutation_p.E1813* NM_006885 NP_008816 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 isoform A 2727 C2H2-type 20. muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(2)|skin(2) 4 Ovarian(137;0.13) ATATGAGCCTCAAGAGCAGTC 0.562 NaN 1 0 9.90768e-06 1 1.01352e-05 26 87 CNTNAP4 85445 broad.mit.edu 37 16 76587302 76587302 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:76587302G>A uc002feu.1 + 24 3950 c.3565G>A c.(3565-3567)GAC>AAC p.D1189N CNTNAP4_uc002fev.1_Missense_Mutation_p.D1053N|CNTNAP4_uc010chb.1_Missense_Mutation_p.D1116N|CNTNAP4_uc002fex.1_Missense_Mutation_p.D1192N NM_033401 NP_207837 Q9C0A0 CNTP4_HUMAN cell recognition protein CASPR4 isoform 1 1189 Extracellular (Potential).|Laminin G-like 4. cell adhesion|signal transduction integral to membrane receptor binding ovary(1)|pancreas(1) 2 CAGCCACCCAGACCCTGTCAC 0.607 NaN 0 0 0 1 0 7 23 ADAMTS18 170692 broad.mit.edu 37 16 77353980 77353980 + Silent SNP C C T rs149346461 byFrequency TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:77353980C>T uc002ffc.3 - 16 2717 c.2298G>A c.(2296-2298)CCG>CCA p.P766P ADAMTS18_uc010chc.1_Silent_p.P354P|ADAMTS18_uc002ffe.1_Silent_p.P462P NM_199355 NP_955387 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 766 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1) 18 TGAGGACCACCGGATAATATT 0.473 NaN 0 0 0 1 0 6 67 MAF 4094 broad.mit.edu 37 16 79633490 79633490 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:79633490C>T uc002ffn.2 - 1 1133 c.310G>A c.(310-312)GAG>AAG p.E104K MAF_uc002ffm.2_Missense_Mutation_p.E104K NM_001031804 NP_001026974 O75444 MAF_HUMAN v-maf musculoaponeurotic fibrosarcoma oncogene 104 transcription from RNA polymerase II promoter chromatin|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity lung(1) 1 all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211) UCEC - Uterine corpus endometrioid carcinoma (2;0.0178) CCCAGCGCCTCGGGGTTCAGC 0.706 NaN T IGH@ MM 0 0 0 1 0 4 20 C16orf46 123775 broad.mit.edu 37 16 81095596 81095596 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:81095596C>T uc002fgc.3 - 4 617 c.358G>A c.(358-360)GAG>AAG p.E120K C16orf46_uc010chf.2_Missense_Mutation_p.E120K|C16orf46_uc010vno.1_5'UTR NM_152337 NP_689550 Q6P387 CP046_HUMAN chromosome 16 open reading frame 46 isoform 2 120 0 GGGCCCCCCTCAGTAGGAGGC 0.607 NaN 0 0 0 1 0 44 155 PKD1L2 114780 broad.mit.edu 37 16 81198281 81198281 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:81198281G>A uc002fgh.1 - 20 3313 c.3313C>T c.(3313-3315)CTG>TTG p.L1105L PKD1L2_uc002fgg.1_RNA NM_052892 NP_443124 Q7Z442 PK1L2_HUMAN polycystin 1-like 2 isoform a 1105 REJ.|Extracellular (Potential). neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 CCGCCCTCCAGAGAGCTGAGG 0.488 NaN 0 0 0 1 0 27 89 MBTPS1 8720 broad.mit.edu 37 16 84129320 84129320 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:84129320G>C uc002fhi.2 - 4 1014 c.512C>G c.(511-513)TCT>TGT p.S171C NM_003791 NP_003782 Q14703 MBTP1_HUMAN membrane-bound transcription factor site-1 171 cholesterol metabolic process|proteolysis endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane serine-type endopeptidase activity ovary(2) 2 CCAGAAGCCAGAGCCCAGGGA 0.617 NaN 0 0 0 1 0 32 128 TAF1C 9013 broad.mit.edu 37 16 84215615 84215615 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:84215615C>T uc002fhn.2 - 8 999 c.771G>A c.(769-771)GGG>GGA p.G257G TAF1C_uc002fhm.2_Silent_p.G190G|TAF1C_uc010vnx.1_Silent_p.G257G|TAF1C_uc010vny.1_5'UTR|TAF1C_uc010vnz.1_5'UTR|TAF1C_uc002fho.2_5'UTR|TAF1C_uc010voa.1_5'UTR|TAF1C_uc002fhp.1_RNA|TAF1C_uc010vob.1_Silent_p.G257G NM_005679 NP_005670 Q15572 TAF1C_HUMAN TBP-associated factor 1C isoform 1 257 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding ovary(1) 1 GTCCAGGTTTCCCAAGGAATT 0.547 NaN 0 0 0 1 0 39 119 CRISPLD2 83716 broad.mit.edu 37 16 84883009 84883009 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:84883009C>T uc010voh.1 + 4 605 c.378C>T c.(376-378)TTC>TTT p.F126F CRISPLD2_uc010vog.1_Intron|CRISPLD2_uc002fio.2_Silent_p.F126F|CRISPLD2_uc002fim.2_Silent_p.F126F|CRISPLD2_uc002fin.3_Silent_p.F126F NM_031476 NP_113664 Q9H0B8 CRLD2_HUMAN cysteine-rich secretory protein LCCL domain 126 extracellular region|transport vesicle 0 CTCCGGGGTTCCATGTGCAGT 0.637 NaN 0 0 0 1 0 13 59 ZC3H18 124245 broad.mit.edu 37 16 88694373 88694373 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:88694373G>C uc002fky.2 + 15 2515 c.2315G>C c.(2314-2316)AGG>ACG p.R772T ZC3H18_uc010voz.1_Missense_Mutation_p.R796T|ZC3H18_uc010chw.2_Intron|ZC3H18_uc002fkz.2_Missense_Mutation_p.R42T NM_144604 NP_653205 Q86VM9 ZCH18_HUMAN zinc finger CCCH-type containing 18 772 nucleus nucleic acid binding|zinc ion binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.0542) AAGCGGAAAAGGGATTCGTCC 0.547 NaN 0 0 0 1 0 35 96 TRAPPC2L 51693 broad.mit.edu 37 16 88926377 88926377 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:88926377C>G uc002fmc.2 + 4 424 c.371C>G c.(370-372)TCC>TGC p.S124C TRAPPC2L_uc010cie.2_RNA|TRAPPC2L_uc002fmd.3_Missense_Mutation_p.S124C|TRAPPC2L_uc002fme.3_Missense_Mutation_p.S94C|TRAPPC2L_uc002fmf.2_Missense_Mutation_p.S93C|uc002fmg.2_5'Flank NM_016209 NP_057293 Q9UL33 TPC2L_HUMAN trafficking protein particle complex 2-like 124 ER to Golgi vesicle-mediated transport endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm 0 BRCA - Breast invasive adenocarcinoma(80;0.0477) CGCATCCAGTCCAGGTGGGCC 0.502 NaN 0 0 0 1 0 36 79 C16orf7 9605 broad.mit.edu 37 16 89777028 89777028 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:89777028C>T uc002fom.1 - 10 1349 c.1224G>A c.(1222-1224)CTG>CTA p.L408L C16orf7_uc002fol.1_Silent_p.L338L|uc002fon.1_5'Flank NM_004913 NP_004904 Q9Y2B5 CP007_HUMAN chromosome 16 open reading frame 7 408 ATP synthesis coupled proton transport GTPase activator activity|transporter activity 0 Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256) BRCA - Breast invasive adenocarcinoma(80;0.0273) CCGCGGTCTTCAGCTGCTGCA 0.657 NaN 0 0 0 1 0 15 40 GAS8 2622 broad.mit.edu 37 16 90106743 90106743 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:90106743C>T uc002fqi.1 + 9 1169 c.1047C>T c.(1045-1047)TTC>TTT p.F349F GAS8_uc010vps.1_Silent_p.F324F|GAS8_uc002fqh.2_Silent_p.F266F|GAS8_uc010vpv.1_Silent_p.F320F|GAS8_uc010cjc.1_Silent_p.F266F|GAS8_uc010vpw.1_Silent_p.F266F|GAS8_uc002fqj.1_Silent_p.F157F|LOC100130015_uc002fql.2_3'UTR|uc002fqm.1_5'Flank NM_001481 NP_001472 O95995 GAS8_HUMAN growth arrest-specific 8 349 Potential. negative regulation of cell proliferation|sperm motility cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum protein binding ovary(1) 1 all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.029) ATCGGAAGTTCACCGCAGCCA 0.622 NaN 0 0 0 1 0 4 15 YWHAE 7531 broad.mit.edu 37 17 1257622 1257622 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:1257622C>G uc002fsj.2 - 5 750 c.598G>C c.(598-600)GAT>CAT p.D200H YWHAE_uc002fsk.2_Missense_Mutation_p.D178H|YWHAE_uc010vqh.1_RNA|YWHAE_uc010vqi.1_RNA NM_006761 NP_006752 P62258 1433E_HUMAN tyrosine 3/tryptophan 5 -monooxygenase 200 apoptosis|G2/M transition of mitotic cell cycle|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway cytosol|melanosome histone deacetylase binding|phosphoserine binding lung(2)|ovary(1) 3 OV - Ovarian serous cystadenocarcinoma(18;0.203) UCEC - Uterine corpus endometrioid carcinoma (25;0.0887) ATTGCATCATCAAAAGCTGCT 0.353 NaN 0 0 0 1 0 13 29 SLC43A2 124935 broad.mit.edu 37 17 1478943 1478943 + Silent SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:1478943G>C uc002fsv.2 - 14 1754 c.1665C>G c.(1663-1665)CTC>CTG p.L555L SLC43A2_uc002fsu.2_Silent_p.L559L NM_152346 NP_689559 Q8N370 LAT4_HUMAN solute carrier family 43, member 2 555 cellular nitrogen compound metabolic process|ion transport integral to membrane|plasma membrane 0 UCEC - Uterine corpus endometrioid carcinoma (25;0.0883) TTTTGAGGAAGAGTTTGTCAT 0.617 NaN 0 0 0 1 0 8 33 WDR81 124997 broad.mit.edu 37 17 1639411 1639411 + Missense_Mutation SNP G G A rs141513894 by1000genomes TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:1639411G>A uc002fti.2 + 9 1984 c.1723G>A c.(1723-1725)GTG>ATG p.V575M WDR81_uc002fth.2_Missense_Mutation_p.V751M|WDR81_uc010vqp.1_Missense_Mutation_p.V599M|WDR81_uc002ftj.2_Missense_Mutation_p.V1802M|WDR81_uc010vqq.1_Missense_Mutation_p.V433M NM_001163811 NP_001157283 Q562E7 WDR81_HUMAN WD repeat domain 81 isoform 4 575 skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) CCGTAGTGTCGTGGCCGGCTT 0.667 NaN 0 0 0 1 0 28 68 WDR81 124997 broad.mit.edu 37 17 1640893 1640893 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:1640893G>A uc002fti.2 + 10 2320 c.2059G>A c.(2059-2061)GGC>AGC p.G687S WDR81_uc002fth.2_Missense_Mutation_p.G863S|WDR81_uc010vqp.1_Missense_Mutation_p.G711S|WDR81_uc002ftj.2_Missense_Mutation_p.G1914S|WDR81_uc010vqq.1_Missense_Mutation_p.G545S NM_001163811 NP_001157283 Q562E7 WDR81_HUMAN WD repeat domain 81 isoform 4 687 skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) GAACTTCCGCGGCACGCTCAC 0.632 NaN 0 0 0 1 0 23 64 PAFAH1B1 5048 broad.mit.edu 37 17 2575996 2575996 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:2575996C>T uc002fuw.3 + 7 1184 c.616C>T c.(616-618)CAT>TAT p.H206Y PAFAH1B1_uc010ckb.1_RNA|PAFAH1B1_uc010vqz.1_Missense_Mutation_p.H35Y NM_000430 NP_000421 P43034 LIS1_HUMAN platelet-activating factor acetylhydrolase, 206 WD 3.|Interaction with dynein and dynactin. acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity skin(1) 1 CAATGGAGATCATATAGTGTC 0.353 NaN 0 0 0 1 0 17 50 ZZEF1 23140 broad.mit.edu 37 17 3926119 3926119 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:3926119G>A uc002fxe.2 - 44 7160 c.7096C>T c.(7096-7098)CAC>TAC p.H2366Y ZZEF1_uc002fxh.2_Missense_Mutation_p.H680Y|ZZEF1_uc002fxi.2_Missense_Mutation_p.H601Y NM_015113 NP_055928 O43149 ZZEF1_HUMAN zinc finger, ZZ type with EF hand domain 1 2366 calcium ion binding|zinc ion binding ovary(2)|central_nervous_system(1)|pancreas(1) 4 TCAAAACCGTGAGCCTGCCAA 0.423 NaN 0 0 0 1 0 13 53 ZZEF1 23140 broad.mit.edu 37 17 3945848 3945848 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:3945848C>G uc002fxe.2 - 39 6245 c.6181G>C c.(6181-6183)GAA>CAA p.E2061Q ZZEF1_uc002fxh.2_Missense_Mutation_p.E375Q|ZZEF1_uc002fxi.2_Missense_Mutation_p.E296Q|ZZEF1_uc002fxj.1_Missense_Mutation_p.E674Q NM_015113 NP_055928 O43149 ZZEF1_HUMAN zinc finger, ZZ type with EF hand domain 1 2061 calcium ion binding|zinc ion binding ovary(2)|central_nervous_system(1)|pancreas(1) 4 GATGACACTTCTGAATCTTCA 0.448 NaN 0 0 0 1 0 22 63 PELP1 27043 broad.mit.edu 37 17 4574817 4574817 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:4574817C>T uc002fyi.3 - 17 3536 c.3310G>A c.(3310-3312)GAC>AAC p.D1104N PELP1_uc010vsf.1_Missense_Mutation_p.D880N NM_014389 NP_055204 Q8IZL8 PELP1_HUMAN proline, glutamic acid and leucine rich protein 1104 transcription, DNA-dependent cytoplasm|MLL1 complex protein binding ovary(1)|central_nervous_system(1) 2 GCAGCTGTGTCATCCTGCTCC 0.512 NaN 0 0 0 1 0 7 33 INCA1 388324 broad.mit.edu 37 17 4891776 4891776 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:4891776G>A uc002gaj.2 - 8 1087 c.635C>T c.(634-636)TCG>TTG p.S212L CAMTA2_uc010cku.1_5'Flank|CAMTA2_uc002gag.1_5'Flank|CAMTA2_uc002gah.1_5'Flank|CAMTA2_uc002gai.1_5'Flank|CAMTA2_uc010vsu.1_5'Flank|INCA1_uc002gak.2_Missense_Mutation_p.S212L|INCA1_uc002gal.2_Missense_Mutation_p.S197L|INCA1_uc002gam.2_Missense_Mutation_p.S197L NM_213726 NP_998891 Q0VD86 INCA1_HUMAN inhibitor of CDK, cyclin A1 interacting protein 212 nucleus 0 AGTGCTGAACGAGGCCAGAGA 0.567 NaN 0 0 0 1 0 26 74 SLC13A5 284111 broad.mit.edu 37 17 6589554 6589554 + Nonsense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:6589554C>T uc002gdj.2 - 12 1767 c.1679G>A c.(1678-1680)TGG>TAG p.W560* SLC13A5_uc010vtf.1_Nonsense_Mutation_p.W514*|SLC13A5_uc010clq.2_Nonsense_Mutation_p.W517*|SLC13A5_uc002gdk.2_Nonsense_Mutation_p.W543* NM_177550 NP_808218 Q86YT5 S13A5_HUMAN solute carrier family 13, member 5 isoform a 560 integral to membrane citrate transmembrane transporter activity 0 CACATTAGCCCAGTCAGGGAA 0.473 NaN 0 0 0 1 0 36 126 FBXO39 162517 broad.mit.edu 37 17 6683407 6683407 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:6683407G>A uc010vtg.1 + 2 340 c.220G>A c.(220-222)GAA>AAA p.E74K NM_153230 NP_694962 Q8N4B4 FBX39_HUMAN F-box protein 39 74 ovary(1)|skin(1) 2 ACATGCATCTGAAGTTGAGTC 0.463 NaN 0 0 0 1 0 34 112 KCTD11 147040 broad.mit.edu 37 17 7256927 7256927 + Silent SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:7256927C>G uc002gge.3 + 1 1720 c.666C>G c.(664-666)CTC>CTG p.L222L TMEM95_uc002ggf.1_5'Flank|TMEM95_uc002ggg.1_5'Flank|TMEM95_uc002ggh.1_5'Flank NM_001002914 NP_001002914 Q693B1 KCD11_HUMAN potassium channel tetramerisation domain 222 cell cycle|regulation of growth voltage-gated potassium channel complex voltage-gated potassium channel activity 0 Prostate(122;0.157) AAGACCTGCTCAACTCCAGGT 0.602 NaN 0 0 0 1 0 19 44 KCTD11 147040 broad.mit.edu 37 17 7256940 7256940 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:7256940C>G uc002gge.3 + 1 1733 c.679C>G c.(679-681)CTG>GTG p.L227V TMEM95_uc002ggf.1_5'Flank|TMEM95_uc002ggg.1_5'Flank|TMEM95_uc002ggh.1_5'Flank NM_001002914 NP_001002914 Q693B1 KCD11_HUMAN potassium channel tetramerisation domain 227 cell cycle|regulation of growth voltage-gated potassium channel complex voltage-gated potassium channel activity 0 Prostate(122;0.157) CTCCAGGTCTCTGCGCTTTGT 0.592 NaN 0 0 0 1 0 18 42 TMEM95 339168 broad.mit.edu 37 17 7258907 7258907 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:7258907G>A uc002ggh.1 + 2 199 c.172G>A c.(172-174)GAG>AAG p.E58K TMEM95_uc002ggf.1_Missense_Mutation_p.E58K|TMEM95_uc002ggg.1_Missense_Mutation_p.E58K NM_198154 NP_937797 Q3KNT9 TMM95_HUMAN transmembrane protein 95 58 Extracellular (Potential). integral to membrane 0 Prostate(122;0.173) CTCCACAGATGAGGTGTCCAT 0.547 NaN 0 0 0 1 0 4 6 DNAH2 146754 broad.mit.edu 37 17 7700820 7700820 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:7700820C>T uc002giu.1 + 51 8066 c.8052C>T c.(8050-8052)CTC>CTT p.L2684L NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 2684 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(6)|skin(6)|central_nervous_system(1) 13 all_cancers(10;4.66e-07)|Prostate(122;0.081) TTCATCATCTCTGTCCCAGCA 0.532 NaN 0 0 0 1 0 47 183 DNAH2 146754 broad.mit.edu 37 17 7733673 7733673 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:7733673C>T uc002giu.1 + 77 11923 c.11909C>T c.(11908-11910)TCC>TTC p.S3970F DNAH2_uc010cnm.1_Missense_Mutation_p.S908F NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 3970 AAA 6 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(6)|skin(6)|central_nervous_system(1) 13 all_cancers(10;4.66e-07)|Prostate(122;0.081) CCACAGTTTTCCCGCTGCTCC 0.463 NaN 0 0 0 1 0 21 97 CYB5D1 124637 broad.mit.edu 37 17 7762898 7762898 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:7762898C>G uc002gjb.3 + 4 1044 c.655C>G c.(655-657)CTG>GTG p.L219V LSMD1_uc002giz.2_5'Flank|LSMD1_uc002gja.2_5'Flank|CYB5D1_uc010cnn.1_3'UTR NM_144607 NP_653208 Q6P9G0 CB5D1_HUMAN cytochrome b5 domain containing 1 219 heme binding skin(1) 1 all_cancers(10;0.11)|Prostate(122;0.219) TGCAATACTTCTGTACTTCAA 0.448 NaN 0 0 0 1 0 30 80 ARHGEF15 22899 broad.mit.edu 37 17 8222686 8222686 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:8222686C>T uc002glc.2 + 14 2364 c.2243C>T c.(2242-2244)TCC>TTC p.S748F ARHGEF15_uc002gld.2_Missense_Mutation_p.S748F|ARHGEF15_uc010vuw.1_Missense_Mutation_p.S637F NM_173728 NP_776089 O94989 ARHGF_HUMAN Rho guanine exchange factor 15 748 negative regulation of synapse maturation|regulation of Rho protein signal transduction dendrite|intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity ovary(2)|skin(1) 3 CTTCCCTGCTCCCCAGACACC 0.552 NaN 0 0 0 1 0 62 178 PIK3R5 23533 broad.mit.edu 37 17 8814740 8814740 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:8814740G>A uc002glt.2 - 2 139 c.72C>T c.(70-72)CTC>CTT p.L24L PIK3R5_uc010vuz.1_Silent_p.L24L|PIK3R5_uc002glu.3_5'UTR|PIK3R5_uc010coa.1_Silent_p.L24L|PIK3R5_uc010cob.1_Intron NM_014308 NP_055123 Q8WYR1 PI3R5_HUMAN phosphoinositide-3-kinase, regulatory subunit 5 24 platelet activation cytosol|membrane|nucleus breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 GGCTGAGGCTGAGTCCATGCA 0.672 NaN 0 0 0 1 0 20 67 NTN1 9423 broad.mit.edu 37 17 8926117 8926117 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:8926117G>A uc002glw.3 + 2 534 c.427G>A c.(427-429)GAA>AAA p.E143K NM_004822 NP_004813 O95631 NET1_HUMAN netrin 1 precursor 143 Laminin N-terminal. apoptosis|axon guidance protein binding 0 CAAGAAGTTCGAAGTGACCTA 0.607 NaN 0 0 0 1 0 7 30 MAP2K4 6416 broad.mit.edu 37 17 12032537 12032537 + Missense_Mutation SNP C C A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:12032537C>A uc002gnj.2 + 9 1042 c.973C>A c.(973-975)CCT>ACT p.P325T MAP2K4_uc002gnk.2_Missense_Mutation_p.P336T|MAP2K4_uc010vvi.1_Missense_Mutation_p.P207T|MAP2K4_uc010vvj.1_Missense_Mutation_p.P197T NM_003010 NP_003001 P45985 MP2K4_HUMAN mitogen-activated protein kinase kinase 4 325 Protein kinase. cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.?(1) large_intestine(14)|breast(12)|lung(8)|ovary(8)|pancreas(8)|stomach(2)|central_nervous_system(1)|biliary_tract(1)|testis(1)|endometrium(1)|urinary_tract(1)|skin(1) 58 all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163) Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681) GAAAGGAGATCCTCCGCAGCT 0.433 NaN D|Mis|N pancreatic|breast|colorectal 1 0 4.7546e-09 1 4.94748e-09 14 34 COX10 1352 broad.mit.edu 37 17 13980182 13980182 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:13980182C>T uc002gof.3 + 3 512 c.308C>T c.(307-309)TCA>TTA p.S103L COX10_uc010vvs.1_Intron|COX10_uc010vvt.1_5'UTR NM_001303 NP_001294 Q12887 COX10_HUMAN heme A:farnesyltransferase precursor 103 heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly integral to membrane|mitochondrial membrane protoheme IX farnesyltransferase activity 0 all_lung(20;0.06)|Lung SC(565;0.168) UCEC - Uterine corpus endometrioid carcinoma (92;0.106) AGACCTCTCTCACCGCCCAGC 0.428 NaN 0 0 0 1 0 11 61 CCDC144A 9720 broad.mit.edu 37 17 16612513 16612513 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:16612513C>T uc002gqk.1 + 5 1218 c.1142C>T c.(1141-1143)TCT>TTT p.S381F CCDC144A_uc002gql.1_Intron|LOC162632_uc010cpj.1_5'Flank NM_014695 NP_055510 A2RUR9 C144A_HUMAN coiled-coil domain containing 144A 381 0 CATCCATACTCTGGGTCCCAG 0.373 NaN 0 0 0 1 0 16 58 TOM1L2 146691 broad.mit.edu 37 17 17772713 17772713 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:17772713G>A uc002grz.3 - 8 1009 c.852C>T c.(850-852)GTC>GTT p.V284V TOM1L2_uc002gry.3_Silent_p.V234V|TOM1L2_uc010vwy.1_Silent_p.V231V|TOM1L2_uc010cpr.2_Silent_p.V239V|TOM1L2_uc010vwz.1_Silent_p.V136V|TOM1L2_uc010vxa.1_Silent_p.V186V|TOM1L2_uc010vxb.1_Silent_p.V234V|TOM1L2_uc002grv.3_Silent_p.V17V NM_001082968 NP_001076437 Q6ZVM7 TM1L2_HUMAN target of myb1-like 2 isoform 3 284 GAT. intracellular protein transport intracellular 0 all_neural(463;0.228) GCTCCTCGGTGACCTCCTCAT 0.527 NaN 0 0 0 1 0 20 70 SHMT1 6470 broad.mit.edu 37 17 18232688 18232688 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:18232688G>C uc002gta.2 - 11 1376 c.1186C>G c.(1186-1188)CTG>GTG p.L396V SHMT1_uc002gsz.2_Missense_Mutation_p.L171V|SHMT1_uc002gtb.2_Missense_Mutation_p.L357V|SHMT1_uc010cqb.2_Intron|SHMT1_uc010vxt.1_Missense_Mutation_p.L258V NM_004169 NP_004160 P34896 GLYC_HUMAN serine hydroxymethyltransferase 1 (soluble) 396 carnitine biosynthetic process|folic acid metabolic process|L-serine catabolic process|one-carbon metabolic process|purine base biosynthetic process cytosol|nucleus glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding ovary(1) 1 Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116) CTGGGCCGCAGAGCGCTTCTG 0.512 NaN 0 0 0 1 0 11 37 VTN 7448 broad.mit.edu 37 17 26697287 26697287 + Translation_Start_Site SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:26697287G>C uc002hbc.2 - 1 87 c.-62C>G c.(-64--60)ATCAG>ATGAG SARM1_uc010wah.1_Intron|SEBOX_uc010crk.1_5'Flank|SARM1_uc010waj.1_Intron|SARM1_uc010crl.1_5'Flank NM_000638 NP_000629 P04004 VTNC_HUMAN vitronectin precursor cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion alphav-beta3 integrin-vitronectin complex|extracellular space heparin binding|integrin binding|scavenger receptor activity ovary(1)|kidney(1) 2 all_lung(13;0.000533)|Lung NSC(42;0.00171) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) Urokinase(DB00013) TCTCCGCTCTGATGCCTGAGG 0.597 NaN 0 0 0 1 0 16 36 CRYBA1 1411 broad.mit.edu 37 17 27579109 27579109 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:27579109C>T uc002hdw.2 + 4 250 c.243C>T c.(241-243)TTC>TTT p.F81F NM_005208 NP_005199 P05813 CRBA1_HUMAN crystallin, beta A3 81 Beta/gamma crystallin 'Greek key' 2. visual perception soluble fraction structural constituent of eye lens 0 BRCA - Breast invasive adenocarcinoma(11;3.3e-05)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551) ATACCAGCTTCTGTGGGCAAC 0.502 NaN OREG0024293 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 1 0 28 95 EFCAB5 374786 broad.mit.edu 37 17 28380803 28380803 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:28380803G>C uc002het.2 + 10 2023 c.1831G>C c.(1831-1833)GAG>CAG p.E611Q EFCAB5_uc010wbi.1_Missense_Mutation_p.E354Q|EFCAB5_uc010wbj.1_Missense_Mutation_p.E555Q|EFCAB5_uc010wbk.1_Missense_Mutation_p.E268Q|EFCAB5_uc010csd.2_RNA|EFCAB5_uc010cse.2_Missense_Mutation_p.E490Q|EFCAB5_uc010csf.2_Missense_Mutation_p.E490Q NM_198529 NP_940931 A4FU69 EFCB5_HUMAN EF-hand calcium binding domain 5 isoform a 611 calcium ion binding ovary(1)|skin(1) 2 GTCACGCAGAGAGTCTATTGC 0.478 NaN 0 0 0 1 0 54 140 AP2B1 163 broad.mit.edu 37 17 33977735 33977735 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:33977735C>T uc002hjr.2 + 13 1912 c.1723C>T c.(1723-1725)CAT>TAT p.H575Y AP2B1_uc002hjq.2_Missense_Mutation_p.H575Y|AP2B1_uc010wci.1_Missense_Mutation_p.H537Y|AP2B1_uc002hjs.2_Missense_Mutation_p.H518Y|AP2B1_uc002hjt.2_Missense_Mutation_p.H575Y|AP2B1_uc010ctv.2_Missense_Mutation_p.H575Y|AP2B1_uc010wcj.1_Missense_Mutation_p.H312Y NM_001282 NP_001273 P63010 AP2B1_HUMAN adaptor-related protein complex 2, beta 1 575 axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane clathrin binding|protein transporter activity ovary(1) 1 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0227) CTCTGTGTATCATAAGCCTCC 0.463 NaN 0 0 0 1 0 46 106 DDX52 11056 broad.mit.edu 37 17 36003428 36003428 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:36003428G>A uc002hoi.1 - 1 60 c.22C>T c.(22-24)CGC>TGC p.R8C DDX52_uc002hoh.1_5'UTR|DDX52_uc002hoj.1_5'Flank NM_007010 NP_008941 Q9Y2R4 DDX52_HUMAN ATP-dependent RNA helicase ROK1 isoform a 8 nucleolus ATP binding|ATP-dependent helicase activity|RNA binding ovary(1)|skin(1) 2 Breast(25;0.00637)|Ovarian(249;0.15) CCGAGCCGGCGAAAGAGATCG 0.637 NaN 0 0 0 1 0 12 66 GPR179 440435 broad.mit.edu 37 17 36484647 36484647 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:36484647C>G uc002hpz.2 - 11 4826 c.4805G>C c.(4804-4806)AGA>ACA p.R1602T NM_001004334 NP_001004334 Q6PRD1 GP179_HUMAN GPR158-like 1 precursor 1602 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3) 3 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) CCATTCCTCTCTTGTTCTTTC 0.498 NaN 0 0 0 1 0 54 191 GPR179 440435 broad.mit.edu 37 17 36485920 36485920 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:36485920C>G uc002hpz.2 - 11 3553 c.3532G>C c.(3532-3534)GAC>CAC p.D1178H NM_001004334 NP_001004334 Q6PRD1 GP179_HUMAN GPR158-like 1 precursor 1178 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3) 3 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) CTGCCTCTGTCTTCTTGTTCC 0.552 NaN 0 0 0 1 0 73 248 GPR179 440435 broad.mit.edu 37 17 36486038 36486038 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:36486038C>T uc002hpz.2 - 11 3435 c.3414G>A c.(3412-3414)GTG>GTA p.V1138V NM_001004334 NP_001004334 Q6PRD1 GP179_HUMAN GPR158-like 1 precursor 1138 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3) 3 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) CCTGCTTACTCACCGCCTTGG 0.632 NaN 0 0 0 1 0 37 126 GPR179 440435 broad.mit.edu 37 17 36486125 36486125 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:36486125C>T uc002hpz.2 - 11 3348 c.3327G>A c.(3325-3327)GAG>GAA p.E1109E NM_001004334 NP_001004334 Q6PRD1 GP179_HUMAN GPR158-like 1 precursor 1109 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3) 3 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) CCTCGGGACTCTCCTCCACAC 0.652 NaN 0 0 0 1 0 20 63 GPR179 440435 broad.mit.edu 37 17 36486274 36486274 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:36486274C>T uc002hpz.2 - 11 3199 c.3178G>A c.(3178-3180)GAT>AAT p.D1060N NM_001004334 NP_001004334 Q6PRD1 GP179_HUMAN GPR158-like 1 precursor 1060 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3) 3 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) TCGTCCACATCATTAGCTTCC 0.572 NaN 0 0 0 1 0 34 70 GPR179 440435 broad.mit.edu 37 17 36486362 36486362 + Missense_Mutation SNP C C A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:36486362C>A uc002hpz.2 - 11 3111 c.3090G>T c.(3088-3090)TGG>TGT p.W1030C NM_001004334 NP_001004334 Q6PRD1 GP179_HUMAN GPR158-like 1 precursor 1030 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3) 3 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) AGAGGGCCCTCCAGAGCCTGG 0.602 NaN 1 0 1.2476e-16 1 1.32012e-16 28 77 MED1 5469 broad.mit.edu 37 17 37564794 37564794 + Missense_Mutation SNP G G A rs144178898 TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:37564794G>A uc002hrv.3 - 17 3892 c.3680C>T c.(3679-3681)TCA>TTA p.S1227L MED1_uc010wee.1_Missense_Mutation_p.S1055L|MED1_uc002hru.2_Intron NM_004774 NP_004765 Q15648 MED1_HUMAN mediator complex subunit 1 1227 Ser-rich. androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter mediator complex DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 8 Ovarian(249;1.78e-06)|Lung SC(565;0.0262) Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146) UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649) ACCAGAACCTGAACTGATAGG 0.507 NaN HNSCC(31;0.082) 0 0 0 1 0 20 68 CDC6 990 broad.mit.edu 37 17 38449865 38449865 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:38449865C>T uc002huj.1 + 5 1028 c.818C>T c.(817-819)GCA>GTA p.A273V NM_001254 NP_001245 Q99741 CDC6_HUMAN cell division cycle 6 protein 273 cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle cytosol|nucleoplasm|spindle midzone|spindle pole ATP binding|kinase binding|nucleoside-triphosphatase activity ovary(2)|breast(1) 3 CATATGACTGCAGAGAAGGGC 0.428 NaN 0 0 0 1 0 12 34 KRT24 192666 broad.mit.edu 37 17 38859916 38859916 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:38859916G>A uc002hvd.2 - 1 87 c.30C>T c.(28-30)TCC>TCT p.S10S NM_019016 NP_061889 Q2M2I5 K1C24_HUMAN keratin 24 10 Head. cytoplasm|intermediate filament structural molecule activity 0 Breast(137;0.00526) CTCCAGCCCTGGAGGAGGAGG 0.607 NaN 0 0 0 1 0 15 49 KRTAP4-11 653240 broad.mit.edu 37 17 39274150 39274150 + Missense_Mutation SNP T T A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:39274150T>A uc002hvz.2 - 1 457 c.418A>T c.(418-420)AGC>TGC p.S140C NM_033059 NP_149048 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 140 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament 0 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) ctggagatgctgcagctgggg 0.129 NaN 0 0 0 1 0 4 50 ACLY 47 broad.mit.edu 37 17 40068700 40068700 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:40068700C>T uc002hyg.2 - 3 418 c.255G>A c.(253-255)CTG>CTA p.L85L ACLY_uc002hyh.2_Silent_p.L85L|ACLY_uc002hyi.2_Silent_p.L139L|ACLY_uc010wfx.1_Silent_p.L139L|ACLY_uc010wfy.1_Silent_p.L85L NM_001096 NP_001087 P53396 ACLY_HUMAN ATP citrate lyase isoform 1 85 ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process citrate lyase complex|cytosol|nucleus ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity ovary(2)|central_nervous_system(1) 3 Breast(137;0.000143) GCCGTGGCTTCAGCCAGGACT 0.547 NaN 0 0 0 1 0 25 109 NKIRAS2 28511 broad.mit.edu 37 17 40175730 40175730 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:40175730C>G uc002hyq.2 + 4 460 c.395C>G c.(394-396)CCA>CGA p.P132R NKIRAS2_uc010wgd.1_3'UTR|NKIRAS2_uc002hyr.2_Missense_Mutation_p.P132R|NKIRAS2_uc002hys.2_Missense_Mutation_p.P132R|NKIRAS2_uc010wge.1_Missense_Mutation_p.P76R|NKIRAS2_uc002hyt.2_Missense_Mutation_p.P132R NM_001001349 NP_001001349 Q9NYR9 KBRS2_HUMAN NFKB inhibitor interacting Ras-like 2 isoform a 132 Small GTPase-like. I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction cytoplasm GTP binding|GTPase activity ovary(1) 1 all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319) CGTGTAGACCCAGATGTGGCT 0.587 NaN 0 0 0 1 0 14 87 COASY 80347 broad.mit.edu 37 17 40716787 40716787 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:40716787G>C uc002hzz.2 + 5 1265 c.1108G>C c.(1108-1110)GGG>CGG p.G370R COASY_uc010cyj.2_Missense_Mutation_p.G399R|COASY_uc002iab.2_Missense_Mutation_p.G75R|COASY_uc002iad.2_Missense_Mutation_p.G370R|COASY_uc002iac.2_Missense_Mutation_p.G370R|COASY_uc002iae.2_Missense_Mutation_p.G165R|MLX_uc002iaf.2_5'Flank|MLX_uc002iag.2_5'Flank|MLX_uc002iah.2_5'Flank NM_001042529 NP_001035994 Q13057 COASY_HUMAN coenzyme A synthase isoform a 370 DPCK.|ATP (Potential). coenzyme A biosynthetic process|pantothenate metabolic process mitochondrial outer membrane ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity 0 all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344) BRCA - Breast invasive adenocarcinoma(366;0.13) CAGTGGCTCTGGGAAGAGCTC 0.587 NaN 0 0 0 1 0 56 153 CCR10 2826 broad.mit.edu 37 17 40831665 40831665 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:40831665G>A uc002iax.3 - 2 999 c.995C>T c.(994-996)TCA>TTA p.S332L PLEKHH3_uc002iau.2_5'Flank|PLEKHH3_uc002iav.2_5'Flank|PLEKHH3_uc010cym.1_5'Flank|PLEKHH3_uc002iaw.2_5'Flank|CNTNAP1_uc002iay.2_5'Flank|CNTNAP1_uc010wgs.1_5'Flank NM_016602 NP_057686 P46092 CCR10_HUMAN CC chemokine receptor 10 332 Cytoplasmic (Potential). integral to plasma membrane 0 Breast(137;0.000153) BRCA - Breast invasive adenocarcinoma(366;0.14) TTGAGGCCCTGAGGGGCAGCT 0.562 NaN 0 0 0 1 0 12 49 CCR10 2826 broad.mit.edu 37 17 40831709 40831709 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:40831709G>A uc002iax.3 - 2 955 c.951C>T c.(949-951)TTC>TTT p.F317F PLEKHH3_uc002iau.2_5'Flank|PLEKHH3_uc002iav.2_5'Flank|PLEKHH3_uc010cym.1_5'Flank|PLEKHH3_uc002iaw.2_5'Flank|CNTNAP1_uc002iay.2_5'Flank|CNTNAP1_uc010wgs.1_5'Flank NM_016602 NP_057686 P46092 CCR10_HUMAN CC chemokine receptor 10 317 Cytoplasmic (Potential). integral to plasma membrane 0 Breast(137;0.000153) BRCA - Breast invasive adenocarcinoma(366;0.14) GGTCCTGGCGGAAGCGCAGGC 0.557 NaN 0 0 0 1 0 11 41 CCR10 2826 broad.mit.edu 37 17 40831733 40831733 + Silent SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:40831733G>C uc002iax.3 - 2 931 c.927C>G c.(925-927)CTC>CTG p.L309L PLEKHH3_uc002iau.2_5'Flank|PLEKHH3_uc002iav.2_5'Flank|PLEKHH3_uc010cym.1_5'Flank|PLEKHH3_uc002iaw.2_5'Flank|CNTNAP1_uc002iay.2_5'Flank|CNTNAP1_uc010wgs.1_5'Flank NM_016602 NP_057686 P46092 CCR10_HUMAN CC chemokine receptor 10 309 Helical; Name=7; (Potential). integral to plasma membrane 0 Breast(137;0.000153) BRCA - Breast invasive adenocarcinoma(366;0.14) GGAAGGCGTAGAGAACGGGAT 0.617 NaN 0 0 0 1 0 5 40 CCR10 2826 broad.mit.edu 37 17 40831760 40831760 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:40831760G>A uc002iax.3 - 2 904 c.900C>T c.(898-900)CTC>CTT p.L300L PLEKHH3_uc002iau.2_5'Flank|PLEKHH3_uc002iav.2_5'Flank|PLEKHH3_uc010cym.1_5'Flank|PLEKHH3_uc002iaw.2_5'Flank|CNTNAP1_uc002iay.2_5'Flank|CNTNAP1_uc010wgs.1_5'Flank NM_016602 NP_057686 P46092 CCR10_HUMAN CC chemokine receptor 10 300 Helical; Name=7; (Potential). integral to plasma membrane 0 Breast(137;0.000153) BRCA - Breast invasive adenocarcinoma(366;0.14) CACAGCGGGCGAGGGCCAAGC 0.682 NaN 0 0 0 1 0 6 35 CCR10 2826 broad.mit.edu 37 17 40831892 40831892 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:40831892G>A uc002iax.3 - 2 772 c.768C>T c.(766-768)TTC>TTT p.F256F PLEKHH3_uc002iau.2_5'Flank|PLEKHH3_uc002iav.2_5'Flank|PLEKHH3_uc010cym.1_5'Flank|PLEKHH3_uc002iaw.2_5'Flank|CNTNAP1_uc002iay.2_5'Flank|CNTNAP1_uc010wgs.1_5'Flank NM_016602 NP_057686 P46092 CCR10_HUMAN CC chemokine receptor 10 256 Helical; Name=6; (Potential). integral to plasma membrane 0 Breast(137;0.000153) BRCA - Breast invasive adenocarcinoma(366;0.14) GCAGCACCACGAAGGCCGCCA 0.711 NaN 0 0 0 1 0 5 18 EZH1 2145 broad.mit.edu 37 17 40864325 40864325 + Silent SNP C C A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:40864325C>A uc002iaz.2 - 12 1528 c.1383G>T c.(1381-1383)GGG>GGT p.G461G EZH1_uc002iba.2_Silent_p.G452G|EZH1_uc010wgt.1_Silent_p.G391G|EZH1_uc010wgu.1_Silent_p.G467G|EZH1_uc010wgv.1_Silent_p.G421G|EZH1_uc010wgw.1_Silent_p.G322G|EZH1_uc010cyp.2_Silent_p.G362G|EZH1_uc010cyq.2_Silent_p.G378G|EZH1_uc010cyo.1_Silent_p.G124G|EZH1_uc010cyr.1_Silent_p.G113G NM_001991 NP_001982 Q92800 EZH1_HUMAN enhancer of zeste homolog 1 461 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex chromatin binding|DNA binding ovary(3) 3 Breast(137;0.00104) BRCA - Breast invasive adenocarcinoma(366;0.0784) ACGTCTTGGTCCCCAGAAGCC 0.532 NaN 1 0 1.96895e-08 1 2.0463e-08 24 94 WNK4 65266 broad.mit.edu 37 17 40947953 40947953 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:40947953G>A uc002ibj.2 + 16 3354 c.3333G>A c.(3331-3333)ATG>ATA p.M1111I WNK4_uc010wgx.1_Missense_Mutation_p.M775I|CCDC56_uc010wgz.1_Missense_Mutation_p.S102L|CNTD1_uc002ibm.3_5'Flank|CNTD1_uc010wha.1_5'Flank NM_032387 NP_115763 Q96J92 WNK4_HUMAN WNK lysine deficient protein kinase 4 1111 intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity ovary(3)|skin(3)|stomach(1) 7 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0749) CAGTGTGGATGAACTACTCCT 0.587 NaN 0 0 0 1 0 24 61 RUNDC1 146923 broad.mit.edu 37 17 41143537 41143537 + Missense_Mutation SNP A A G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:41143537A>G uc002ici.1 + 5 1658 c.1646A>G c.(1645-1647)CAG>CGG p.Q549R RUNDC1_uc010whi.1_Missense_Mutation_p.Q319R NM_173079 NP_775102 Q96C34 RUND1_HUMAN RUN domain containing 1 549 RUN. 0 Breast(137;0.00499) BRCA - Breast invasive adenocarcinoma(366;0.161) CTGAATGAGCAGCGTCTGGTG 0.547 NaN 0 0 0 1 0 17 57 VAT1 10493 broad.mit.edu 37 17 41174209 41174209 + Nonsense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:41174209G>T uc002icm.1 - 1 251 c.131C>A c.(130-132)TCG>TAG p.S44* VAT1_uc010cyw.1_5'Flank|VAT1_uc010whk.1_Nonsense_Mutation_p.S44* NM_006373 NP_006364 Q99536 VAT1_HUMAN vesicle amine transport protein 1 44 cytoplasm|integral to membrane oxidoreductase activity|zinc ion binding 0 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.156) cagtggcggcgaggcggcggc 0.443 NaN 1 0 0.00909568 1 0.00916606 3 8 ETV4 2118 broad.mit.edu 37 17 41610076 41610076 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:41610076G>A uc002idw.2 - 8 905 c.777C>T c.(775-777)ATC>ATT p.I259I ETV4_uc002idv.2_5'Flank|ETV4_uc010wih.1_Silent_p.I205I|ETV4_uc010czh.2_Silent_p.I258I|ETV4_uc010wii.1_Silent_p.I220I|ETV4_uc002idx.2_Silent_p.I259I|ETV4_uc010wij.1_Silent_p.I220I NM_001986 NP_001977 P43268 ETV4_HUMAN ets variant gene 4 (E1A enhancer binding 259 positive regulation of transcription, DNA-dependent nucleolus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity EWSR1/ETV4(6) bone(4)|soft_tissue(2)|ovary(1) 7 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.0798) GTTCCTGTTTGATCACCACCC 0.587 NaN T EWSR1|TMPRSS2|DDX5|KLK2|CANT1 Ewing sarcoma|Prostate carcinoma 0 0 0 1 0 31 98 UBTF 7343 broad.mit.edu 37 17 42289312 42289312 + Silent SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:42289312G>C uc002igb.2 - 8 901 c.834C>G c.(832-834)ACC>ACG p.T278T UBTF_uc002igc.2_Silent_p.T241T|UBTF_uc010czs.2_Silent_p.T278T|UBTF_uc002igd.2_Silent_p.T241T|UBTF_uc010czt.2_Silent_p.T278T|UBTF_uc002ige.2_Silent_p.T241T NM_014233 NP_055048 P17480 UBF1_HUMAN upstream binding transcription factor, RNA 278 positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleolus|nucleoplasm DNA binding|protein binding 0 Breast(137;0.00765)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.114) GGGTGGACTTGGTGATACCCT 0.612 NaN 0 0 0 1 0 35 124 SLC25A39 51629 broad.mit.edu 37 17 42398044 42398044 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:42398044C>T uc002ign.2 - 9 901 c.747G>A c.(745-747)CCG>CCA p.P249P SLC25A39_uc002igm.2_Silent_p.P241P|SLC25A39_uc002igo.2_Silent_p.P241P|SLC25A39_uc010wiw.1_Silent_p.P226P|SLC25A39_uc010czu.2_Silent_p.P117P|SLC25A39_uc010wix.1_3'UTR|SLC25A39_uc010wiy.1_3'UTR NM_001143780 NP_001137252 Q9BZJ4 S2539_HUMAN solute carrier family 25, member 39 isoform a 249 heme biosynthetic process|transport integral to membrane|mitochondrial inner membrane upper_aerodigestive_tract(1) 1 Prostate(33;0.0233) BRCA - Breast invasive adenocarcinoma(366;0.189) TCTGGTCCTTCGGCCTGAACC 0.597 NaN 0 0 0 1 0 51 121 HEXIM1 10614 broad.mit.edu 37 17 43227467 43227467 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:43227467G>A uc002iig.2 + 1 2784 c.910G>A c.(910-912)GAG>AAG p.E304K NM_006460 NP_006451 O94992 HEXI1_HUMAN hexamethylene bis-acetamide inducible 1 304 Mediates interaction with CCNT1.|Potential. negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding ovary(1) 1 CATGGAGGACGAGAACAACCG 0.647 NaN 0 0 0 1 0 16 163 SKAP1 8631 broad.mit.edu 37 17 46262095 46262095 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:46262095C>T uc002ini.1 - 7 669 c.557G>A c.(556-558)CGC>CAC p.R186H SKAP1_uc002inj.1_Missense_Mutation_p.R186H|SKAP1_uc010dbd.1_Missense_Mutation_p.R92H|SKAP1_uc010dbe.1_Missense_Mutation_p.R186H NM_003726 NP_003717 Q86WV1 SKAP1_HUMAN src kinase associated phosphoprotein 1 isoform 186 PH. positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway cytoplasm|nucleus|plasma membrane antigen binding|protein kinase binding|SH2 domain binding 0 CTCATAGCTGCGCCTATCCTG 0.522 NaN 0 0 0 1 0 60 136 HOXB8 3218 broad.mit.edu 37 17 46691686 46691686 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:46691686C>G uc002inw.2 - 1 616 c.381G>C c.(379-381)CAG>CAC p.Q127H NM_024016 NP_076921 P17481 HXB8_HUMAN homeobox B8 127 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 GCGACGGGCTCTGCTCGGAGC 0.706 NaN 0 0 0 1 0 7 27 DLX4 1748 broad.mit.edu 37 17 48046847 48046847 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:48046847C>T uc002ipv.2 + 1 286 c.15C>T c.(13-15)CCC>CCT p.P5P NM_138281 NP_612138 Q92988 DLX4_HUMAN distal-less homeobox 4 isoform a 5 MTSLPCPLPGRDASKAVFPDLAPVPSVAAAYPLGLSPTTAA SPNLSYSRPYGHLLSYPYTEPANPGDSYLSCQQPAALSQPL CGPAEHPQELEA -> GGSLSLPPEPLCARCPTKEGAAPRR PGFWGSLETQAATVWRGRHGHFSCRVRLSRGAARYSRRGQG KPGVTISAARLVFKVLSAGPLTHPAGRSRRLPRGHRLKPLS IALSLCLQCPSSVISRPRLSPGPSLSAPPYPKLAPPPVAEL RPPTAGAAVPWLWPSARFLPRVTGPIRVGAPLGAELRLVSP GAVNVGVETLHAE (in Ref. 9). multicellular organismal development nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 CCTCTTTGCCCTGCCCCCTCC 0.677 NaN 0 0 0 1 0 39 164 SAMD14 201191 broad.mit.edu 37 17 48194939 48194939 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:48194939C>T uc002iqg.2 - 4 630 c.331G>A c.(331-333)GAG>AAG p.E111K SAMD14_uc002iqd.2_5'UTR|SAMD14_uc002iqe.2_5'UTR|SAMD14_uc002iqf.2_Missense_Mutation_p.E111K NM_174920 NP_777580 Q8IZD0 SAM14_HUMAN sterile alpha motif domain containing 14 111 0 GGCTCGTCCTCGTCCAGGCTG 0.761 NaN 0 0 0 1 0 3 9 MYCBPAP 84073 broad.mit.edu 37 17 48600299 48600299 + Splice_Site SNP G G A rs56367701 TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:48600299G>A uc010wmr.1 + 11 1549 c.1387_splice c.e11-1 p.R463_splice MYCBPAP_uc002iqz.2_Splice_Site NM_032133 NP_115509 Q8TBZ2 MYBPP_HUMAN Myc-binding protein-associated protein cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission cytoplasm|membrane protein binding urinary_tract(2)|skin(2)|ovary(1)|pancreas(1) 6 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;1.23e-09) CCTCCTTCCAGAGGCAGGTTG 0.373 NaN 0 0 0 1 0 23 72 SPATA20 64847 broad.mit.edu 37 17 48632592 48632592 + Splice_Site SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:48632592G>C uc002irf.2 + 15 2251 c.2110_splice c.e15-1 p.I704_splice SPATA20_uc002irc.2_Splice_Site_p.I371_splice|SPATA20_uc002ire.2_Splice_Site_p.I660_splice|SPATA20_uc002ird.2_Splice_Site_p.I720_splice|SPATA20_uc002irg.2_Splice_Site NM_022827 NP_073738 Q8TB22 SPT20_HUMAN spermatogenesis associated 20 cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis extracellular region mannose-6-phosphate isomerase activity|protein binding 0 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;9.38e-09) ATTCCGGTCAGATCGTGATCT 0.592 NaN 0 0 0 1 0 11 39 ABCC3 8714 broad.mit.edu 37 17 48741345 48741345 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:48741345C>T uc002isl.2 + 10 1291 c.1211C>T c.(1210-1212)TCC>TTC p.S404F ABCC3_uc002isk.3_Missense_Mutation_p.S404F|ABCC3_uc002ism.2_Silent_p.V116V NM_003786 NP_003777 O15438 MRP3_HUMAN ATP-binding cassette, sub-family C, member 3 404 Cytoplasmic (By similarity).|ABC transmembrane type-1 1. bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity skin(3)|central_nervous_system(1) 4 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) AAACGTGCGTCCACTGTGGGG 0.577 NaN 0 0 0 1 0 54 68 WFIKKN2 124857 broad.mit.edu 37 17 48917594 48917594 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:48917594G>C uc002isv.3 + 2 1639 c.945G>C c.(943-945)GAG>GAC p.E315D WFIKKN2_uc010dbu.2_Missense_Mutation_p.E222D NM_175575 NP_783165 Q8TEU8 WFKN2_HUMAN WFIKKN2 protein 315 extracellular region metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity ovary(2)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(22;1.09e-08) CCACCTCAGAGAGCAGCCCCA 0.662 NaN 0 0 0 1 0 22 72 MBTD1 54799 broad.mit.edu 37 17 49270356 49270356 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:49270356G>A uc002itr.3 - 15 1821 c.1477C>T c.(1477-1479)CGT>TGT p.R493C MBTD1_uc002itp.3_Missense_Mutation_p.R329C|MBTD1_uc002itq.3_3'UTR NM_017643 NP_060113 Q05BQ5 MBTD1_HUMAN mbt domain containing 1 493 MBT 4. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(22;1.54e-08) ATTCCTACACGAAATCCGTGA 0.363 NaN 0 0 0 1 0 33 86 CA10 56934 broad.mit.edu 37 17 50235295 50235295 + Translation_Start_Site SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:50235295C>T uc002itw.3 - 1 838 c.-148G>A c.(-150--146)GGGTG>GGATG CA10_uc002itv.3_Translation_Start_Site|CA10_uc002itx.3_Translation_Start_Site|CA10_uc002ity.3_Translation_Start_Site|CA10_uc002itz.2_Translation_Start_Site NM_020178 NP_064563 Q9NS85 CAH10_HUMAN carbonic anhydrase X brain development ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(22;4.74e-06) GGGACAGTCACCCCCAAGATC 0.612 NaN 0 0 0 1 0 11 22 DGKE 8526 broad.mit.edu 37 17 54940071 54940071 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:54940071G>A uc002iur.2 + 12 1803 c.1623G>A c.(1621-1623)ATG>ATA p.M541I DGKE_uc002ius.1_3'UTR NM_003647 NP_003638 P52429 DGKE_HUMAN diacylglycerol kinase epsilon 541 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding breast(2) 2 Breast(9;3.59e-07) CACATGCAATGATGTTATATT 0.453 NaN 0 0 0 1 0 18 10 MPO 4353 broad.mit.edu 37 17 56358002 56358002 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:56358002G>C uc002ivu.1 - 1 295 c.118C>G c.(118-120)CTG>GTG p.L40V NM_000250 NP_000241 P05164 PERM_HUMAN myeloperoxidase 40 anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling extracellular space|lysosome|nucleus|stored secretory granule chromatin binding|heme binding|heparin binding|peroxidase activity ovary(2)|large_intestine(1)|pancreas(1) 4 Cefdinir(DB00535) GGCGTGGCCAGAATGGCCAGG 0.582 NaN 0 0 0 1 0 23 80 HSF5 124535 broad.mit.edu 37 17 56540327 56540327 + Missense_Mutation SNP G G C rs145817491 TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:56540327G>C uc002iwi.1 - 4 1482 c.1358C>G c.(1357-1359)TCT>TGT p.S453C NM_001080439 NP_001073908 Q4G112 HSF5_HUMAN heat shock transcription factor family member 5 453 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.S453F(1) ovary(2)|skin(1) 3 Medulloblastoma(34;0.127)|all_neural(34;0.237) CTGTGGTAGAGAGCAGGCAAC 0.483 NaN 0 0 0 1 0 29 96 MTMR4 9110 broad.mit.edu 37 17 56569025 56569025 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:56569025C>T uc002iwj.2 - 19 3697 c.3587G>A c.(3586-3588)TGA>TAA p.*1196* NM_004687 NP_004678 Q9NYA4 MTMR4_HUMAN myotubularin related protein 4 1196 cytoplasm|membrane metal ion binding|protein tyrosine phosphatase activity skin(1) 1 Medulloblastoma(34;0.127)|all_neural(34;0.237) CCCCGGCATTCAACTGGAAGC 0.468 NaN 0 0 0 1 0 19 57 HEATR6 63897 broad.mit.edu 37 17 58128216 58128216 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:58128216G>A uc002iyk.1 - 15 2429 c.2412C>T c.(2410-2412)TTC>TTT p.F804F HEATR6_uc010ddk.1_Silent_p.F343F|HEATR6_uc010wos.1_Silent_p.F524F NM_022070 NP_071353 Q6AI08 HEAT6_HUMAN HEAT repeat containing 6 804 binding ovary(1)|skin(1) 2 all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10) GCAGATTGCTGAAGGCCTCTG 0.502 NaN 0 0 0 1 0 15 51 CA4 762 broad.mit.edu 37 17 58234821 58234821 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:58234821C>T uc002iym.3 + 4 396 c.302C>T c.(301-303)TCT>TTT p.S101F CA4_uc010wou.1_Intron NM_000717 NP_000708 P22748 CAH4_HUMAN carbonic anhydrase IV precursor 101 bicarbonate transport|one-carbon metabolic process anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|ER-Golgi intermediate compartment|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane carbonate dehydratase activity|protein binding|zinc ion binding 0 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;3.83e-12)|all cancers(12;6.83e-11) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021) GCCAGCATTTCTGGAGGAGGA 0.587 NaN 0 0 0 1 0 22 89 BRIP1 83990 broad.mit.edu 37 17 59770842 59770842 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:59770842G>C uc002izk.1 - 18 2665 c.2524C>G c.(2524-2526)CTT>GTT p.L842V BRIP1_uc002izl.1_Missense_Mutation_p.L223V NM_032043 NP_114432 Q9BX63 FANCJ_HUMAN BRCA1 interacting protein C-terminal helicase 1 842 DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding ovary(1) 1 ACTAGAATAAGAGCTCCCCAA 0.353 NaN F|N|Mis AML|leukemia|breast Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 0 0 0 1 0 17 44 MED13 9969 broad.mit.edu 37 17 60059866 60059866 + Silent SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:60059866G>C uc002izo.2 - 16 3575 c.3498C>G c.(3496-3498)CTC>CTG p.L1166L NM_005121 NP_005112 Q9UHV7 MED13_HUMAN mediator complex subunit 13 1166 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding large_intestine(1)|ovary(1) 2 AGGTAGCCCTGAGAGCTTCAA 0.348 NaN 0 0 0 1 0 21 109 MED13 9969 broad.mit.edu 37 17 60140470 60140470 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:60140470C>T uc002izo.2 - 2 336 c.259G>A c.(259-261)GAA>AAA p.E87K NM_005121 NP_005112 Q9UHV7 MED13_HUMAN mediator complex subunit 13 87 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding large_intestine(1)|ovary(1) 2 CTGGGGTCTTCACCCCACCAA 0.418 NaN 0 0 0 1 0 28 69 TLK2 11011 broad.mit.edu 37 17 60685465 60685465 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:60685465G>A uc010ddp.2 + 22 2369 c.2101G>A c.(2101-2103)GAA>AAA p.E701K TLK2_uc002izx.3_Missense_Mutation_p.E527K|TLK2_uc002izz.3_Missense_Mutation_p.E679K|TLK2_uc002jaa.3_Missense_Mutation_p.E647K|TLK2_uc010wpd.1_Missense_Mutation_p.E647K NM_006852 NP_006843 Q86UE8 TLK2_HUMAN tousled-like kinase 2 isoform A 701 Protein kinase. cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus nucleus ATP binding|protein binding|protein serine/threonine kinase activity stomach(1)|kidney(1) 2 TAAAGCTACTGAAGTGCAGTT 0.423 NaN 0 0 0 1 0 9 28 ACE 1636 broad.mit.edu 37 17 61560831 61560831 + Nonsense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:61560831C>T uc002jau.1 + 10 1520 c.1498C>T c.(1498-1500)CAG>TAG p.Q500* ACE_uc010wpi.1_Silent_p.I451I|ACE_uc010ddu.1_Nonsense_Mutation_p.Q317*|ACE_uc002jav.1_5'Flank|ACE_uc010ddv.1_5'Flank|ACE_uc010wpj.1_5'Flank|ACE_uc002jaw.1_5'Flank|ACE_uc010wpk.1_5'Flank NM_000789 NP_000780 P12821 ACE_HUMAN angiotensin I converting enzyme 1 isoform 1 500 Extracellular (Potential).|Peptidase M2 1. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding ovary(2)|upper_aerodigestive_tract(1)|pancreas(1) 4 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) AACCAAGTATCAGGGGATCTG 0.448 NaN 0 0 0 1 0 23 76 KCNH6 81033 broad.mit.edu 37 17 61601526 61601526 + Nonsense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:61601526C>T uc002jay.2 + 2 183 c.103C>T c.(103-105)CAG>TAG p.Q35* KCNH6_uc002jax.1_Nonsense_Mutation_p.Q35*|KCNH6_uc010wpl.1_5'UTR|KCNH6_uc010wpm.1_Nonsense_Mutation_p.Q35*|KCNH6_uc002jaz.1_Nonsense_Mutation_p.Q35* NM_030779 NP_110406 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H, 35 Cytoplasmic (Potential). regulation of transcription, DNA-dependent|signal transduction skin(1) 1 Ibutilide(DB00308) TGCCAATGCTCAGATGGAGAA 0.567 NaN 0 0 0 1 0 83 275 FTSJ3 117246 broad.mit.edu 37 17 61901514 61901514 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:61901514C>G uc002jbz.2 - 11 1162 c.1084G>C c.(1084-1086)GAG>CAG p.E362Q FTSJ3_uc002jca.2_Missense_Mutation_p.E362Q NM_017647 NP_060117 Q8IY81 RRMJ3_HUMAN FtsJ homolog 3 362 RNA methylation|rRNA processing nucleolus methyltransferase activity|nucleic acid binding ovary(1) 1 tcctcctcctcttcctcctcc 0.458 NaN 0 0 0 1 0 51 177 CCDC45 90799 broad.mit.edu 37 17 62533747 62533747 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:62533747G>A uc002jem.2 + 20 2374 c.2316G>A c.(2314-2316)CTG>CTA p.L772L CCDC45_uc002jen.2_RNA|CCDC45_uc010wqb.1_Silent_p.L608L NM_138363 NP_612372 Q96GE4 CEP95_HUMAN coiled-coil domain containing 45 772 Potential. centrosome|spindle pole protein binding 0 Breast(5;1.32e-14) BRCA - Breast invasive adenocarcinoma(8;8.6e-12) AGAGGGAGCTGAGATCTAAGA 0.453 NaN 0 0 0 1 0 12 26 RGS9 8787 broad.mit.edu 37 17 63156421 63156421 + Silent SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:63156421C>G uc002jfe.2 + 4 386 c.276C>G c.(274-276)CTC>CTG p.L92L RGS9_uc010dem.2_Silent_p.L92L|RGS9_uc002jfd.2_Silent_p.L92L|RGS9_uc002jff.2_RNA NM_003835 NP_003826 O75916 RGS9_HUMAN regulator of G-protein signaling 9 isoform 1 92 DEP. intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity ovary(2)|skin(2) 4 CCAAGAATCTCATTCTCAAGC 0.478 NaN 0 0 0 1 0 24 84 AXIN2 8313 broad.mit.edu 37 17 63545744 63545744 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:63545744G>A uc002jfi.2 - 3 1139 c.850C>T c.(850-852)CAC>TAC p.H284Y AXIN2_uc010den.1_Missense_Mutation_p.H284Y|AXIN2_uc002jfh.2_Missense_Mutation_p.H284Y NM_004655 NP_004646 Q9Y2T1 AXIN2_HUMAN axin 2 284 cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding central_nervous_system(1)|skin(1) 2 GAACCTATGTGATAAGGATTA 0.502 NaN Oligodontia_Ectodermal_Dysplasia_and_Colorectal_Polyp_syndrome 0 0 0 1 0 6 23 WIPI1 55062 broad.mit.edu 37 17 66423333 66423333 + Nonsense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:66423333G>A uc010dey.2 - 11 1226 c.1135C>T c.(1135-1137)CAG>TAG p.Q379* WIPI1_uc002jhd.3_RNA|WIPI1_uc010wqo.1_Nonsense_Mutation_p.Q297*|WIPI1_uc002jhe.3_RNA|MIR635_hsa-mir-635|MI0003650_5'Flank NM_017983 NP_060453 Q5MNZ9 WIPI1_HUMAN WD repeat domain, phosphoinositide interacting 379 macroautophagy|vesicle targeting, trans-Golgi to endosome autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding 0 GCATAAGACTGAGGTAAGGAA 0.502 NaN 0 0 0 1 0 21 86 PRKAR1A 5573 broad.mit.edu 37 17 66526076 66526076 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:66526076C>G uc002jhg.2 + 10 1087 c.907C>G c.(907-909)CTA>GTA p.L303V PRKAR1A_uc002jhh.2_Missense_Mutation_p.L303V|PRKAR1A_uc002jhi.2_Missense_Mutation_p.L303V|PRKAR1A_uc002jhj.2_Missense_Mutation_p.L303V|PRKAR1A_uc002jhk.2_Missense_Mutation_p.L179V|PRKAR1A_uc002jhl.2_Missense_Mutation_p.L303V|PRKAR1A_uc002jhm.2_Missense_Mutation_p.L303V NM_212471 NP_997636 P10644 KAP0_HUMAN cAMP-dependent protein kinase, regulatory 303 cAMP 2. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport cAMP-dependent protein kinase complex|cytosol cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding adrenal_gland(4)|lung(3)|thyroid(2)|soft_tissue(2)|breast(1) 12 Breast(10;1.64e-13) AGCTGCTGTGCTACAACGTCG 0.393 NaN T|Mis|N|F|S RET papillary thyroid myxoma|endocrine|papillary thyroid Carney_Complex|Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial|Cardiac_Myxomas_Familial_Clustering_of 0 0 0 1 0 34 103 ABCA8 10351 broad.mit.edu 37 17 66890330 66890331 + Nonsense_Mutation DNP CT CT TA TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:66890330_66890331CT>TA uc002jhp.2 - 21 3078_3079 c.2899_2900AG>TA c.(2899-2901)AGA>TAA p.R967* ABCA8_uc002jhq.2_Nonsense_Mutation_p.R1007*|ABCA8_uc010wqq.1_Nonsense_Mutation_p.R1007*|ABCA8_uc010wqr.1_Nonsense_Mutation_p.R946*|ABCA8_uc002jhr.2_Nonsense_Mutation_p.R1007* NM_007168 NP_009099 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A member 8 967 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(2)|skin(1) 3 Breast(10;4.56e-13) AAATGTACTTCTTTCAGTTCGG 0.366 NaN 0 0 0 1 0 5 25 ABCA8 10351 broad.mit.edu 37 17 66890366 66890366 + Missense_Mutation SNP C C A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:66890366C>A uc002jhp.2 - 21 3043 c.2864G>T c.(2863-2865)GGA>GTA p.G955V ABCA8_uc002jhq.2_Missense_Mutation_p.G995V|ABCA8_uc010wqq.1_Missense_Mutation_p.G995V|ABCA8_uc010wqr.1_Missense_Mutation_p.G934V|ABCA8_uc002jhr.2_Missense_Mutation_p.G995V NM_007168 NP_009099 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A member 8 955 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(2)|skin(1) 3 Breast(10;4.56e-13) TTTAACCATTCCAAGTAGCCC 0.343 NaN 1 0 3.59834e-05 1 3.66325e-05 6 24 ABCA10 10349 broad.mit.edu 37 17 67152011 67152011 + Missense_Mutation SNP C C G rs140554607 TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:67152011C>G uc010dfa.1 - 30 4390 c.3511G>C c.(3511-3513)GAT>CAT p.D1171H ABCA10_uc010wqs.1_Missense_Mutation_p.D163H|ABCA10_uc010wqt.1_RNA NM_080282 NP_525021 Q8WWZ4 ABCAA_HUMAN ATP-binding cassette, sub-family A, member 10 1171 transport integral to membrane ATP binding|ATPase activity ovary(2)|central_nervous_system(1)|skin(1) 4 Breast(10;6.95e-12) ACATCTTCATCTTCTTCTTCG 0.423 NaN 0 0 0 1 0 18 95 CD300LD 100131439 broad.mit.edu 37 17 72584728 72584728 + Missense_Mutation SNP C C A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:72584728C>A uc002jkz.2 - 2 330 c.301G>T c.(301-303)GAT>TAT p.D101Y C17orf77_uc002jla.1_Intron NM_001115152 NP_001108624 Q6UXZ3 CLM4_HUMAN CD300 molecule-like family member d precursor 101 Extracellular (Potential).|Ig-like V-type. integral to membrane|plasma membrane receptor activity 0 CTGTCAGCATCATCTCTTTTG 0.443 NaN 1 0 9.31168e-06 1 9.53124e-06 14 155 NUP85 79902 broad.mit.edu 37 17 73208116 73208116 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:73208116C>T uc002jng.1 + 4 580 c.320C>T c.(319-321)TCA>TTA p.S107L NUP85_uc010dgd.1_Missense_Mutation_p.S107L|NUP85_uc010wrv.1_Missense_Mutation_p.S61L NM_024844 NP_079120 Q9BW27 NUP85_HUMAN nucleoporin 85 107 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle protein binding ovary(1) 1 all_lung(278;0.14)|Lung NSC(278;0.168) all cancers(21;3.45e-06) AACTACCGATCAGTCATCAGA 0.209 NaN 0 0 0 1 0 6 35 MRPS7 51081 broad.mit.edu 37 17 73258675 73258675 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:73258675G>A uc002jnm.3 + 2 414 c.181G>A c.(181-183)GAG>AAG p.E61K GGA3_uc002jni.1_5'Flank|GGA3_uc002jnj.1_5'Flank|GGA3_uc010wrw.1_5'Flank|GGA3_uc002jnk.1_5'Flank|GGA3_uc010wrx.1_5'Flank|GGA3_uc010wry.1_5'Flank|GGA3_uc010wrz.1_5'Flank|MRPS7_uc002jnl.2_Missense_Mutation_p.E61K|MRPS7_uc002jnn.3_Missense_Mutation_p.E90K NM_015971 NP_057055 Q9Y2R9 RT07_HUMAN mitochondrial ribosomal protein S7 precursor 61 translation cytosolic small ribosomal subunit|mitochondrion protein binding|RNA binding|structural constituent of ribosome p.E61E(1) central_nervous_system(1) 1 all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07) all cancers(21;3.02e-07)|Epithelial(20;2.92e-06) GCTAACTGAGGAGGAGAAATA 0.473 NaN 0 0 0 1 0 45 188 ITGB4 3691 broad.mit.edu 37 17 73725400 73725400 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:73725400C>T uc002jpg.2 + 7 808 c.621C>T c.(619-621)ATC>ATT p.I207I ITGB4_uc002jph.2_Silent_p.I207I|ITGB4_uc010dgo.2_Silent_p.I207I|ITGB4_uc002jpi.3_Silent_p.I207I|ITGB4_uc010dgp.1_Silent_p.I207I|ITGB4_uc002jpj.2_Silent_p.I207I|ITGB4_uc010wsh.1_5'Flank NM_000213 NP_000204 P16144 ITB4_HUMAN integrin beta 4 isoform 1 precursor 207 VWFA.|Extracellular (Potential). cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity lung(4) 4 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) AGAACGTCATCAGCCTGACAG 0.597 NaN 0 0 0 1 0 19 79 FBF1 85302 broad.mit.edu 37 17 73919562 73919562 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:73919562C>G uc002jqc.2 - 13 1358 c.1084G>C c.(1084-1086)GAG>CAG p.E362Q FBF1_uc002jqa.1_RNA|FBF1_uc010wsp.1_Missense_Mutation_p.E353Q|FBF1_uc002jqd.1_Missense_Mutation_p.E363Q|FBF1_uc010dgr.1_5'Flank NM_001080542 NP_001074011 Q8TES7 FBF1_HUMAN Fas (TNFRSF6) binding factor 1 362 0 CGATGGGCCTCTCTGGTGGGT 0.652 NaN 0 0 0 1 0 4 14 DNAH17 8632 broad.mit.edu 37 17 76422558 76422558 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:76422558C>G uc010dhp.1 - 24 4117 c.3895G>C c.(3895-3897)GAC>CAC p.D1299H DNAH17_uc002jvq.2_Missense_Mutation_p.D584H|DNAH17_uc002jvs.2_RNA SubName: Full=DNAH17 variant protein; Flags: Fragment; ovary(6)|breast(2)|skin(1) 9 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) AGCAGCAGGTCTGCGTACCAG 0.627 NaN 0 0 0 1 0 14 31 DNAH17 8632 broad.mit.edu 37 17 76557991 76557991 + Silent SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:76557991G>C uc002jvv.1 - 8 853 c.747C>G c.(745-747)GTC>GTG p.V249V RecName: Full=Dynein heavy chain 17, axonemal; AltName: Full=Axonemal beta dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain-like protein 1; AltName: Full=Axonemal dynein heavy chain-like protein 1; AltName: Full=Dynein light chain 2, axonemal; ovary(6)|breast(2)|skin(1) 9 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) GCTCCAGCATGACTGAATACC 0.577 NaN 0 0 0 1 0 7 31 USP36 57602 broad.mit.edu 37 17 76831483 76831483 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:76831483G>A uc002jvz.1 - 4 679 c.354C>T c.(352-354)TTC>TTT p.F118F USP36_uc002jwa.1_Silent_p.F118F|USP36_uc002jwd.1_Silent_p.F118F NM_025090 NP_079366 Q9P275 UBP36_HUMAN ubiquitin specific peptidase 36 118 ubiquitin-dependent protein catabolic process nucleolus cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(2)|ovary(1)|breast(1)|kidney(1) 5 BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151) CGCCCACGCGGAAGACCCGCT 0.592 NaN 0 0 0 1 0 9 41 CCDC40 55036 broad.mit.edu 37 17 78061848 78061848 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:78061848G>A uc010dht.2 + 16 2685 c.2658G>A c.(2656-2658)CTG>CTA p.L886L CCDC40_uc002jxm.3_Silent_p.L669L|CCDC40_uc002jxn.3_Silent_p.L282L NM_017950 NP_060420 Q4G0X9 CCD40_HUMAN coiled-coil domain containing 40 886 Potential. axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium|cytoplasm ovary(3) 3 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149) AGGACAAGCTGAACCAGCTCA 0.617 NaN 0 0 0 1 0 18 57 RNF213 57674 broad.mit.edu 37 17 78328356 78328356 + Silent SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:78328356C>G uc002jyh.1 + 11 5284 c.5061C>G c.(5059-5061)CTC>CTG p.L1687L uc002jyi.1_RNA|RNF213_uc010dhw.1_Silent_p.L69L NM_020914 NP_065965 Q9HCF4 ALO17_HUMAN ring finger protein 213 Error:Variant_position_missing_in_Q9HCF4_after_alignment ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1) 21 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) AGGACGCTCTCCAGGAGGCGG 0.547 NaN 0 0 0 1 0 14 52 NOTUM 147111 broad.mit.edu 37 17 79918540 79918540 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:79918540C>T uc010wvg.1 - 1 518 c.246G>A c.(244-246)GCG>GCA p.A82A NM_178493 NP_848588 Q6P988 NOTUM_HUMAN notum pectinacetylesterase homolog precursor 82 extracellular region hydrolase activity 0 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) TGAGCTGCTGCGCGGAGCAGG 0.662 NaN 0 0 0 1 0 9 18 ASPSCR1 79058 broad.mit.edu 37 17 79941448 79941448 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:79941448C>T uc002kcx.2 + 3 274 c.177C>T c.(175-177)CTC>CTT p.L59L ASPSCR1_uc002kcw.1_Silent_p.L59L|ASPSCR1_uc002kcy.2_Silent_p.L59L|ASPSCR1_uc002kcz.2_Silent_p.L59L|ASPSCR1_uc002kda.2_5'UTR|ASPSCR1_uc002kdb.1_5'UTR NM_024083 NP_076988 Q9BZE9 ASPC1_HUMAN alveolar soft part sarcoma chromosome region, 59 protein binding ASPSCR1/TFE3(161) soft_tissue(118)|kidney(43)|breast(1) 162 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) GGAGCGTGCTCGACCTTTCTC 0.483 NaN T TFE3 alveolar soft part sarcoma 0 0 0 1 0 9 21 LRRC45 201255 broad.mit.edu 37 17 79988621 79988621 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:79988621G>A uc002kde.2 + 17 2193 c.1953G>A c.(1951-1953)CAG>CAA p.Q651Q RAC3_uc002kdf.2_5'Flank NM_144999 NP_659436 Q96CN5 LRC45_HUMAN leucine rich repeat containing 45 651 centrosome pancreas(1) 1 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) GCTTCCTGCAGAACGCCGTCC 0.697 NaN 0 0 0 1 0 12 15 SLC16A3 9123 broad.mit.edu 37 17 80196577 80196577 + Splice_Site SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:80196577G>A uc002kea.2 + 5 1263 c.1124_splice c.e5-1 p.G375_splice SLC16A3_uc002kee.2_Intron|SLC16A3_uc002keb.2_Splice_Site_p.G375_splice|SLC16A3_uc002kec.2_Splice_Site_p.G375_splice|SLC16A3_uc002ked.2_Splice_Site_p.G375_splice NM_001042422 NP_001035887 O15427 MOT4_HUMAN solute carrier family 16, member 3 blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane secondary active monocarboxylate transmembrane transporter activity|symporter activity upper_aerodigestive_tract(1)|lung(1) 2 Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227) OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149) Pyruvic acid(DB00119) TCTTCCCGCAGGCAAACTCCT 0.642 NaN 0 0 0 1 0 10 19 FN3K 64122 broad.mit.edu 37 17 80708323 80708323 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:80708323G>C uc010wvs.1 + 6 683 c.622G>C c.(622-624)GAG>CAG p.E208Q TBCD_uc002kfx.1_5'Flank|TBCD_uc002kfy.1_5'Flank|TBCD_uc002kfz.2_5'Flank NM_022158 NP_071441 Q9H479 FN3K_HUMAN fructosamine 3 kinase 208 fructoselysine metabolic process fructosamine-3-kinase activity 0 Breast(20;0.000523)|all_neural(118;0.0952) BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061) TTGTGGCCTAGAGATTGTCCC 0.582 NaN 0 0 0 1 0 34 102 ZNF750 79755 broad.mit.edu 37 17 80788081 80788081 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:80788081C>G uc002kga.2 - 3 2420 c.2109G>C c.(2107-2109)AAG>AAC p.K703N TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron NM_024702 NP_078978 Q32MQ0 ZN750_HUMAN zinc finger protein 750 703 intracellular zinc ion binding central_nervous_system(1) 1 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0514)|all_epithelial(8;0.0748) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149) GCTTCGCCTTCTTAGCTCCTT 0.567 NaN 0 0 0 1 0 30 93 ZNF750 79755 broad.mit.edu 37 17 80788126 80788126 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:80788126C>G uc002kga.2 - 3 2375 c.2064G>C c.(2062-2064)AAG>AAC p.K688N TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron NM_024702 NP_078978 Q32MQ0 ZN750_HUMAN zinc finger protein 750 688 intracellular zinc ion binding central_nervous_system(1) 1 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0514)|all_epithelial(8;0.0748) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149) GACTTGTCCTCTTTTGTCCTT 0.592 NaN 0 0 0 1 0 38 103 ZNF750 79755 broad.mit.edu 37 17 80788419 80788419 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:80788419C>G uc002kga.2 - 3 2082 c.1771G>C c.(1771-1773)GAG>CAG p.E591Q TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron NM_024702 NP_078978 Q32MQ0 ZN750_HUMAN zinc finger protein 750 591 intracellular zinc ion binding central_nervous_system(1) 1 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0514)|all_epithelial(8;0.0748) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149) GGCCCATCCTCAGAACCTTCT 0.677 NaN 0 0 0 1 0 24 89 ZNF750 79755 broad.mit.edu 37 17 80789062 80789062 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:80789062C>T uc002kga.2 - 2 1580 c.1269G>A c.(1267-1269)ACG>ACA p.T423T TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron NM_024702 NP_078978 Q32MQ0 ZN750_HUMAN zinc finger protein 750 423 intracellular zinc ion binding central_nervous_system(1) 1 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0514)|all_epithelial(8;0.0748) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149) AGGTCTGGCTCGTCTGCATGA 0.652 NaN 0 0 0 1 0 37 110 ZNF750 79755 broad.mit.edu 37 17 80789532 80789532 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:80789532C>G uc002kga.2 - 2 1110 c.799G>C c.(799-801)GAG>CAG p.E267Q TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron NM_024702 NP_078978 Q32MQ0 ZN750_HUMAN zinc finger protein 750 267 intracellular zinc ion binding central_nervous_system(1) 1 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0514)|all_epithelial(8;0.0748) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149) GCGTCACACTCAGGCGAGCTC 0.612 NaN 0 0 0 1 0 38 118 ZNF750 79755 broad.mit.edu 37 17 80790213 80790213 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:80790213G>C uc002kga.2 - 2 429 c.118C>G c.(118-120)CTT>GTT p.L40V TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron NM_024702 NP_078978 Q32MQ0 ZN750_HUMAN zinc finger protein 750 40 intracellular zinc ion binding central_nervous_system(1) 1 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0514)|all_epithelial(8;0.0748) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149) TGATTAAAAAGATGTGACTTC 0.418 NaN 0 0 0 1 0 71 62 COLEC12 81035 broad.mit.edu 37 18 346722 346722 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr18:346722G>A uc002kkm.2 - 5 1115 c.900C>T c.(898-900)ATC>ATT p.I300I NM_130386 NP_569057 Q5KU26 COL12_HUMAN collectin sub-family member 12 300 Potential.|Extracellular (Potential). carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization collagen|integral to membrane galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity ovary(1)|pancreas(1) 2 all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426) AGATAGTGGTGATGTTCTCCA 0.502 NaN 0 0 0 1 0 19 65 EMILIN2 84034 broad.mit.edu 37 18 2891158 2891158 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr18:2891158G>A uc002kln.2 + 4 1192 c.1033G>A c.(1033-1035)GAG>AAG p.E345K NM_032048 NP_114437 Q9BXX0 EMIL2_HUMAN elastin microfibril interfacer 2 precursor 345 cell adhesion collagen extracellular matrix constituent conferring elasticity|protein binding skin(2)|ovary(1) 3 READ - Rectum adenocarcinoma(2;0.1) AAACTCATGTGAGTACAAGCT 0.522 NaN 0 0 0 1 0 38 123 EPB41L3 23136 broad.mit.edu 37 18 5397426 5397426 + Splice_Site SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr18:5397426C>G uc002kmt.1 - 18 2559 c.2473_splice c.e18-1 p.K825_splice EPB41L3_uc010wzh.1_Splice_Site_p.K656_splice|EPB41L3_uc002kmu.1_Splice_Site_p.K603_splice|EPB41L3_uc010dkq.1_Splice_Site_p.K494_splice|EPB41L3_uc002kms.1_Splice_Site_p.K60_splice|EPB41L3_uc010wze.1_Splice_Site_p.K130_splice|EPB41L3_uc010wzf.1_Splice_Site_p.K122_splice|EPB41L3_uc010wzg.1_Splice_Site_p.K97_splice|EPB41L3_uc010dkr.2_Splice_Site_p.K217_splice NM_012307 NP_036439 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity ovary(5) 5 TTTCCATTTTCTGCATGGGAA 0.517 NaN 0 0 0 1 0 24 87 LRRC30 339291 broad.mit.edu 37 18 7231348 7231348 + Missense_Mutation SNP C C A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr18:7231348C>A uc010wzk.1 + 1 212 c.212C>A c.(211-213)TCC>TAC p.S71Y NM_001105581 NP_001099051 A6NM36 LRC30_HUMAN leucine rich repeat containing 30 71 ovary(1)|liver(1) 2 TGGGGCTTGTCCGAGGTCCAG 0.607 NaN 1 0 1.9806e-07 1 2.0496e-07 23 75 TWSG1 57045 broad.mit.edu 37 18 9396492 9396492 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr18:9396492G>C uc002knz.2 + 4 629 c.438G>C c.(436-438)CAG>CAC p.Q146H TWSG1_uc002koa.2_Missense_Mutation_p.Q71H NM_020648 NP_065699 Q9GZX9 TWSG1_HUMAN twisted gastrulation precursor 146 ovary(1)|pancreas(1) 2 CACACCACCAGAATGTGTCTG 0.443 NaN 0 0 0 1 0 17 60 CIDEA 1149 broad.mit.edu 37 18 12264384 12264384 + Missense_Mutation SNP G G C rs139948292 TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr18:12264384G>C uc002kqt.3 + 3 327 c.262G>C c.(262-264)GAG>CAG p.E88Q CIDEA_uc002kqu.3_Missense_Mutation_p.E122Q|CIDEA_uc010dlc.2_RNA NM_001279 NP_001270 O60543 CIDEA_HUMAN cell death-inducing DFFA-like effector a isoform 88 CIDE-N. DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis mitochondrial envelope|nucleus protein homodimerization activity ovary(1)|central_nervous_system(1) 2 GGACACAGAAGAGTTCTTTCA 0.512 NaN 0 0 0 1 0 19 58 CEP192 55125 broad.mit.edu 37 18 13059091 13059091 + Nonsense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr18:13059091C>G uc010xac.1 + 21 4348 c.4268C>G c.(4267-4269)TCA>TGA p.S1423* CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Nonsense_Mutation_p.S948*|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_5'UTR|CEP192_uc002krs.1_Nonsense_Mutation_p.S1164* NM_032142 NP_115518 E9PF99 E9PF99_HUMAN centrosomal protein 192kDa 1423 ovary(4)|pancreas(1) 5 GTGGATCTTTCAACATATCGT 0.358 NaN 0 0 0 1 0 21 58 MIB1 57534 broad.mit.edu 37 18 19427037 19427037 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr18:19427037G>A uc002ktq.2 + 16 2344 c.2344G>A c.(2344-2346)GAT>AAT p.D782N MIB1_uc002ktp.2_Missense_Mutation_p.D421N NM_020774 NP_065825 Q86YT6 MIB1_HUMAN mindbomb homolog 1 782 Notch signaling pathway centrosome|nuclear membrane|plasma membrane ubiquitin-protein ligase activity|zinc ion binding ovary(4) 4 STAD - Stomach adenocarcinoma(5;0.212) TCTCTGTCCTGATCCGAATCT 0.393 NaN 0 0 0 1 0 21 55 LAMA3 3909 broad.mit.edu 37 18 21327958 21327958 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr18:21327958G>A uc002kuq.2 + 3 585 c.499G>A c.(499-501)GAT>AAT p.D167N LAMA3_uc010dlv.1_Missense_Mutation_p.D167N|LAMA3_uc002kur.2_Missense_Mutation_p.D167N NM_198129 NP_937762 Q16787 LAMA3_HUMAN laminin alpha 3 subunit isoform 1 167 Laminin N-terminal. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|skin(2)|central_nervous_system(1) 11 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TCCTCGCCCTGATCTTTGGGT 0.348 NaN 0 0 0 1 0 21 68 DSC1 1823 broad.mit.edu 37 18 28720060 28720060 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr18:28720060C>G uc002kwn.2 - 10 1727 c.1465G>C c.(1465-1467)GAA>CAA p.E489Q DSC1_uc002kwm.2_Missense_Mutation_p.E489Q NM_024421 NP_077739 Q08554 DSC1_HUMAN desmocollin 1 isoform Dsc1a preproprotein 489 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding ovary(3)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(10;0.00778) CCAAGGAGTTCTTGGCCAGCT 0.428 NaN 0 0 0 1 0 22 74 DSG1 1828 broad.mit.edu 37 18 28916386 28916386 + Missense_Mutation SNP C C A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr18:28916386C>A uc002kwp.2 + 9 1287 c.1075C>A c.(1075-1077)CAT>AAT p.H359N NM_001942 NP_001933 Q02413 DSG1_HUMAN desmoglein 1 preproprotein 359 Extracellular (Potential).|Cadherin 3. calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding skin(3)|ovary(2)|central_nervous_system(2) 7 OV - Ovarian serous cystadenocarcinoma(10;0.00559) TGAATTTCATCATTCAATTAT 0.343 NaN 1 0 0.184627 1 0.184846 5 25 DSG1 1828 broad.mit.edu 37 18 28923426 28923426 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr18:28923426G>C uc002kwp.2 + 12 1913 c.1701G>C c.(1699-1701)TTG>TTC p.L567F DSG1_uc010xbp.1_5'Flank NM_001942 NP_001933 Q02413 DSG1_HUMAN desmoglein 1 preproprotein 567 Helical; (Potential). calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding skin(3)|ovary(2)|central_nervous_system(2) 7 OV - Ovarian serous cystadenocarcinoma(10;0.00559) TCCCATTTTTGATGATCTGTT 0.423 NaN 0 0 0 1 0 32 122 DSG1 1828 broad.mit.edu 37 18 28923523 28923523 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr18:28923523G>C uc002kwp.2 + 12 2010 c.1798G>C c.(1798-1800)GAA>CAA p.E600Q DSG1_uc010xbp.1_5'Flank NM_001942 NP_001933 Q02413 DSG1_HUMAN desmoglein 1 preproprotein 600 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding skin(3)|ovary(2)|central_nervous_system(2) 7 OV - Ovarian serous cystadenocarcinoma(10;0.00559) ATGGGCAGTAGAAGGACCACA 0.483 NaN 0 0 0 1 0 23 75 C18orf34 374864 broad.mit.edu 37 18 30913193 30913193 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr18:30913193G>C uc002kxn.2 - 9 966 c.824C>G c.(823-825)TCT>TGT p.S275C C18orf34_uc010xbr.1_Missense_Mutation_p.S275C|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.S275C|C18orf34_uc002kxp.2_Missense_Mutation_p.S275C NM_001105528 NP_001098998 Q5BJE1 CR034_HUMAN hypothetical protein LOC374864 isoform 1 275 Potential. ovary(1) 1 ATTCTGCTTAGAGTCCAGTAG 0.328 NaN 0 0 0 1 0 9 40 ASXL3 80816 broad.mit.edu 37 18 31319557 31319557 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr18:31319557C>T uc010dmg.1 + 11 2244 c.2189C>T c.(2188-2190)TCA>TTA p.S730L ASXL3_uc002kxq.2_Missense_Mutation_p.S437L NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 730 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 GAAACTTCTTCAGTGTCTTCC 0.398 NaN 0 0 0 1 0 55 207 C18orf10 25941 broad.mit.edu 37 18 34376949 34376949 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr18:34376949G>C uc002kzw.1 - 7 1150 c.722C>G c.(721-723)TCC>TGC p.S241C C18orf10_uc002kzv.1_Intron|C18orf10_uc010xci.1_Missense_Mutation_p.S206C|C18orf10_uc002kzx.1_Missense_Mutation_p.S198C NM_015476 NP_056291 Q68CL5 TPGS2_HUMAN tubulin polyglutamylase complex subunit 2 241 cytoplasm|microtubule skin(1) 1 ATTCACAAAGGAGTCGGTCTC 0.443 NaN 0 0 0 1 0 52 143 KIAA1328 57536 broad.mit.edu 37 18 34415224 34415224 + Nonsense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr18:34415224C>G uc002kzz.2 + 3 144 c.122C>G c.(121-123)TCA>TGA p.S41* NM_020776 NP_065827 Q86T90 K1328_HUMAN hypothetical protein LOC57536 41 central_nervous_system(1) 1 COAD - Colon adenocarcinoma(74;0.195) AATGTCAGATCAAGACACAAG 0.393 NaN 0 0 0 1 0 17 56 SETBP1 26040 broad.mit.edu 37 18 42530198 42530198 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr18:42530198C>T uc010dni.2 + 4 1189 c.893C>T c.(892-894)TCA>TTA p.S298L NM_015559 NP_056374 Q9Y6X0 SETBP_HUMAN SET binding protein 1 isoform a 298 nucleus DNA binding upper_aerodigestive_tract(2)|large_intestine(1) 3 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) AGCCACAGCTCACCAGCCCCA 0.567 NaN Schinzel-Giedion_syndrome 0 0 0 1 0 22 88 SLC14A1 6563 broad.mit.edu 37 18 43319255 43319255 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr18:43319255C>T uc010xcn.1 + 8 1110 c.791C>T c.(790-792)TCA>TTA p.S264L SLC14A1_uc010dnk.2_Missense_Mutation_p.S320L|SLC14A1_uc002lbf.3_Missense_Mutation_p.S264L|SLC14A1_uc002lbg.3_RNA|SLC14A1_uc010xco.1_Missense_Mutation_p.S159L|SLC14A1_uc002lbh.3_Missense_Mutation_p.S156L|SLC14A1_uc002lbi.3_Missense_Mutation_p.S132L|SLC14A1_uc002lbj.3_Missense_Mutation_p.S320L|SLC14A1_uc002lbk.3_Missense_Mutation_p.S264L NM_001146036 NP_001139508 Q13336 UT1_HUMAN solute carrier family 14 (urea transporter), 264 integral to plasma membrane urea transmembrane transporter activity central_nervous_system(1)|pancreas(1) 2 GCCATAGGATCATTGCTGGGC 0.537 NaN 0 0 0 1 0 27 81 TCEB3B 51224 broad.mit.edu 37 18 44561352 44561352 + Missense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr18:44561352G>T uc002lcr.1 - 1 637 c.284C>A c.(283-285)TCC>TAC p.S95Y KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron NM_016427 NP_057511 Q8IYF1 ELOA2_HUMAN elongin A2 95 regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding ovary(2)|large_intestine(1)|pancreas(1) 4 GCGCTGTCGGGAAGCGCTCTC 0.657 NaN 1 0 1.40151e-16 1 1.48112e-16 22 67 IER3IP1 51124 broad.mit.edu 37 18 44682582 44682582 + Nonsense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr18:44682582G>C uc002lcu.2 - 3 312 c.215C>G c.(214-216)TCA>TGA p.S72* NM_016097 NP_057181 Q9Y5U9 IR3IP_HUMAN immediate early response 3 interacting protein 72 Helical; (Potential). endoplasmic reticulum membrane|Golgi apparatus|integral to membrane 0 AATTGCAATTGAGTTTACTAT 0.303 NaN 0 0 0 1 0 7 30 MYO5B 4645 broad.mit.edu 37 18 47581731 47581731 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr18:47581731G>A uc002leb.2 - 2 333 c.45C>T c.(43-45)ATC>ATT p.I15I MYO5B_uc002lec.1_Silent_p.I14I NM_001080467 NP_001073936 Q9ULV0 MYO5B_HUMAN myosin VB 15 Myosin head-like. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity ovary(2)|skin(2)|central_nervous_system(1) 5 READ - Rectum adenocarcinoma(32;0.103) CAGGGTCAGGGATCCAGACCC 0.453 NaN 0 0 0 1 0 23 84 CXXC1 30827 broad.mit.edu 37 18 47810410 47810410 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr18:47810410C>T uc002leq.3 - 10 2000 c.1267G>A c.(1267-1269)GAA>AAA p.E423K MBD1_uc002leg.2_5'Flank|MBD1_uc010dow.1_5'Flank|MBD1_uc010xdi.1_5'Flank|MBD1_uc002leh.3_5'Flank|MBD1_uc002len.2_5'Flank|MBD1_uc002lei.3_5'Flank|MBD1_uc002lej.3_5'Flank|MBD1_uc002lek.3_5'Flank|MBD1_uc002lel.3_5'Flank|MBD1_uc002lem.3_5'Flank|MBD1_uc010xdj.1_5'Flank|MBD1_uc010xdk.1_5'Flank|MBD1_uc002leo.2_5'Flank|CXXC1_uc002lep.3_Missense_Mutation_p.E280K|CXXC1_uc002ler.3_Missense_Mutation_p.E427K|CXXC1_uc010doy.2_Missense_Mutation_p.E423K|CXXC1_uc002les.2_Missense_Mutation_p.E423K NM_014593 NP_055408 Q9P0U4 CXXC1_HUMAN CXXC finger 1 (PHD domain) isoform 2 423 Potential. histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck|Set1C/COMPASS complex protein binding|unmethylated CpG binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 CCGTGCTCTTCAGCAATGCAA 0.587 NaN 0 0 0 1 0 43 114 ALPK2 115701 broad.mit.edu 37 18 56205258 56205258 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr18:56205258C>T uc002lhj.3 - 5 2375 c.2161G>A c.(2161-2163)GAA>AAA p.E721K ALPK2_uc002lhk.1_Missense_Mutation_p.E52K NM_052947 NP_443179 Q86TB3 ALPK2_HUMAN heart alpha-kinase 721 ATP binding|protein serine/threonine kinase activity ovary(7)|skin(5)|lung(1)|central_nervous_system(1) 14 TCTTGTTTTTCTTCATGCTGT 0.448 NaN 0 0 0 1 0 48 138 SERPINB5 5268 broad.mit.edu 37 18 61170752 61170752 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr18:61170752G>C uc002liz.3 + 7 1067 c.925G>C c.(925-927)GAG>CAG p.E309Q NM_002639 NP_002630 P36952 SPB5_HUMAN serine (or cysteine) proteinase inhibitor, clade 309 cellular component movement|regulation of proteolysis cytoplasm|extracellular space protein binding|serine-type endopeptidase inhibitor activity ovary(1) 1 TGGAATGTCAGAGACCAAGGG 0.438 NaN 0 0 0 1 0 29 53 SERPINB8 5271 broad.mit.edu 37 18 61654502 61654502 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr18:61654502C>T uc002ljv.2 + 7 1284 c.1115C>T c.(1114-1116)TCT>TTT p.S372F SERPINB8_uc002lju.2_Missense_Mutation_p.S372F|SERPINB8_uc010xex.1_Missense_Mutation_p.S190F NM_198833 NP_942130 P50452 SPB8_HUMAN serine (or cysteine) proteinase inhibitor, clade 372 regulation of proteolysis cytosol protein binding|serine-type endopeptidase inhibitor activity skin(1) 1 Esophageal squamous(42;0.129) GGCAGGTTCTCTTCTCCGTAA 0.473 NaN 0 0 0 1 0 19 54 TSHZ1 10194 broad.mit.edu 37 18 72999280 72999280 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr18:72999280G>A uc002lly.2 + 2 2346 c.1783G>A c.(1783-1785)GAG>AAG p.E595K NM_005786 NP_005777 Q6ZSZ6 TSH1_HUMAN teashirt family zinc finger 1 640 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211) Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246) GTCTGCCATGGAGGAGCTGGT 0.637 NaN 0 0 0 1 0 17 83 CDC34 997 broad.mit.edu 37 19 541369 541369 + Silent SNP G G A rs143039634 TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:541369G>A uc002lov.2 + 5 727 c.528G>A c.(526-528)GCG>GCA p.A176A GZMM_uc002low.1_5'Flank NM_004359 NP_004350 P49427 UB2R1_HUMAN ubiquitin-conjugating enzyme Cdc34 176 DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|negative regulation of cAMP-mediated signaling|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination cytoplasm|nucleus ATP binding|protein binding|ubiquitin-protein ligase activity 0 all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGGTGGACGCGGAGCGTGACG 0.716 NaN 0 0 0 1 0 5 18 FSTL3 10272 broad.mit.edu 37 19 677928 677928 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:677928G>A uc002lpk.1 + 2 275 c.240G>A c.(238-240)AAG>AAA p.K80K FSTL3_uc010drt.1_5'Flank NM_005860 NP_005851 O95633 FSTL3_HUMAN follistatin-like 3 glycoprotein precursor 80 TB. hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of osteoclast differentiation|ossification|positive regulation of cell-cell adhesion|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent extracellular space|nucleus activin binding|fibronectin binding 0 all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CGGGGAACAAGATCAACCTCC 0.627 NaN T CCND1 B-CLL 0 0 0 1 0 29 109 FSTL3 10272 broad.mit.edu 37 19 677931 677931 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:677931C>T uc002lpk.1 + 2 278 c.243C>T c.(241-243)ATC>ATT p.I81I FSTL3_uc010drt.1_5'Flank NM_005860 NP_005851 O95633 FSTL3_HUMAN follistatin-like 3 glycoprotein precursor 81 TB. hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of osteoclast differentiation|ossification|positive regulation of cell-cell adhesion|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent extracellular space|nucleus activin binding|fibronectin binding 0 all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGAACAAGATCAACCTCCTCG 0.622 NaN T CCND1 B-CLL 0 0 0 1 0 29 106 REXO1 57455 broad.mit.edu 37 19 1828237 1828237 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:1828237G>A uc002lua.3 - 2 646 c.551C>T c.(550-552)TCC>TTC p.S184F REXO1_uc010dsr.1_Missense_Mutation_p.S138F NM_020695 NP_065746 Q8N1G1 REXO1_HUMAN transcription elongation factor B polypeptide 3 184 nucleus exonuclease activity|nucleic acid binding 0 Ovarian(11;1.78e-06)|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) CCTGTCCAGGGACGCCAGCGA 0.716 NaN 0 0 0 1 0 7 32 ZNF77 58492 broad.mit.edu 37 19 2939284 2939284 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:2939284G>C uc002lws.3 - 2 256 c.125C>G c.(124-126)TCC>TGC p.S42C NM_021217 NP_067040 Q15935 ZNF77_HUMAN zinc finger protein 77 42 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|zinc ion binding ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18) CTTACCCAAGGAGGCAAGGTT 0.567 NaN 0 0 0 1 0 18 61 FZR1 51343 broad.mit.edu 37 19 3527044 3527044 + Missense_Mutation SNP C C A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:3527044C>A uc010dtk.2 + 5 488 c.454C>A c.(454-456)CCC>ACC p.P152T FZR1_uc002lxt.2_Missense_Mutation_p.P152T|FZR1_uc002lxv.2_Intron NM_001136198 NP_001129670 Q9UM11 FZR_HUMAN Fzr1 protein isoform 1 152 activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle cytosol|nucleoplasm protein binding lung(1)|kidney(1) 2 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18) CTCCCTGTCTCCCGTCAGCAA 0.642 NaN 1 0 6.05902e-23 1 6.45152e-23 32 112 C19orf28 126321 broad.mit.edu 37 19 3550998 3550998 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:3550998C>G uc002lxz.2 - 2 663 c.493G>C c.(493-495)GAG>CAG p.E165Q C19orf28_uc002lxw.2_Missense_Mutation_p.E165Q|C19orf28_uc002lxx.2_Missense_Mutation_p.E165Q|C19orf28_uc002lxy.2_Missense_Mutation_p.E156Q NM_174983 NP_778148 Q6NUT3 CS028_HUMAN hypothetical protein LOC126321 isoform c 165 transmembrane transport integral to membrane breast(1)|pancreas(1) 2 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00251)|STAD - Stomach adenocarcinoma(1328;0.18) GCCGTGAGCTCCACCTTCTCA 0.592 NaN 0 0 0 1 0 17 28 GIPC3 126326 broad.mit.edu 37 19 3590172 3590172 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:3590172G>C uc002lyd.3 + 6 950 c.923G>C c.(922-924)AGA>ACA p.R308T NM_133261 NP_573568 Q8TF64 GIPC3_HUMAN GIPC PDZ domain containing family, member 3 308 breast(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18) GGCGAGGCCAGAGAGGCCTGT 0.433 NaN 0 0 0 1 0 4 10 MATK 4145 broad.mit.edu 37 19 3779175 3779175 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:3779175C>G uc002lyt.2 - 12 1412 c.1012G>C c.(1012-1014)GAG>CAG p.E338Q MATK_uc002lyv.2_Missense_Mutation_p.E339Q|MATK_uc002lyu.2_Missense_Mutation_p.E297Q|MATK_uc010dtq.2_Missense_Mutation_p.E338Q NM_139355 NP_647612 P42679 MATK_HUMAN megakaryocyte-associated tyrosine kinase isoform 338 Protein kinase. cell proliferation|mesoderm development|positive regulation of cell proliferation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity stomach(2)|ovary(1)|lung(1)|large_intestine(1) 5 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) TCCATGCCCTCGGCCACGTGC 0.652 NaN 0 0 0 1 0 4 20 PTPRS 5802 broad.mit.edu 37 19 5231463 5231463 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:5231463C>T uc002mbv.2 - 14 2247 c.2013G>A c.(2011-2013)GTG>GTA p.V671V PTPRS_uc002mbu.1_Intron|PTPRS_uc010xin.1_Intron|PTPRS_uc002mbw.2_Silent_p.V658V|PTPRS_uc002mbx.2_Intron|PTPRS_uc002mby.2_Intron NM_002850 NP_002841 Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, 671 Extracellular (Potential).|Fibronectin type-III 4. cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity large_intestine(2)|ovary(1)|central_nervous_system(1) 4 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) GGATGCCGTTCACCTCCTTGG 0.672 NaN 0 0 0 1 0 20 46 LONP1 9361 broad.mit.edu 37 19 5711936 5711936 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:5711936G>A uc002mcx.2 - 4 749 c.716C>T c.(715-717)TCA>TTA p.S239L LONP1_uc002mcy.2_Missense_Mutation_p.S175L|LONP1_uc010duh.2_5'UTR|LONP1_uc010dui.2_Missense_Mutation_p.S239L|LONP1_uc002mcz.2_Missense_Mutation_p.S43L NM_004793 NP_004784 P36776 LONM_HUMAN mitochondrial lon peptidase 1 precursor 239 Lon. cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia mitochondrial nucleoid ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding 0 GCCCCGCTTTGACTTCCTGCG 0.667 NaN 0 0 0 1 0 27 65 SLC25A41 284427 broad.mit.edu 37 19 6426469 6426469 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:6426469C>T uc010dus.2 - 7 1130 c.1044G>A c.(1042-1044)CTG>CTA p.L348L KHSRP_uc002mer.3_5'Flank|SLC25A41_uc010dut.2_Silent_p.L210L NM_173637 NP_775908 Q8N5S1 S2541_HUMAN solute carrier family 25, member 41 348 Helical; Name=6; (Potential).|Solcar 3. transmembrane transport integral to membrane|mitochondrial inner membrane binding 0 GTAAGACCTTCAGTAGCGTGG 0.602 NaN 0 0 0 1 0 25 78 DENND1C 79958 broad.mit.edu 37 19 6467705 6467705 + Nonsense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:6467705G>C uc002mfe.2 - 23 2308 c.2216C>G c.(2215-2217)TCA>TGA p.S739* DENND1C_uc002mfb.2_Nonsense_Mutation_p.S289*|DENND1C_uc002mfc.2_Nonsense_Mutation_p.S289*|DENND1C_uc002mfd.2_Nonsense_Mutation_p.S289*|DENND1C_uc010xje.1_Nonsense_Mutation_p.S695* NM_024898 NP_079174 Q8IV53 DEN1C_HUMAN DENN/MADD domain containing 1C 739 clathrin-coated vesicle|cytosol guanyl-nucleotide exchange factor activity large_intestine(1) 1 ACTGGGGTCTGAGGAAGGATC 0.632 NaN 0 0 0 1 0 8 29 C3 718 broad.mit.edu 37 19 6692953 6692953 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:6692953C>T uc002mfm.2 - 26 3434 c.3372G>A c.(3370-3372)GTG>GTA p.V1124V C3_uc002mfl.2_5'UTR NM_000064 NP_000055 P01024 CO3_HUMAN complement component 3 precursor 1124 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding skin(3)|ovary(1)|pancreas(1) 5 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) CTTGGTGTATCACGGGCGCAT 0.562 NaN 0 0 0 1 0 48 185 NDUFA7 4701 broad.mit.edu 37 19 8381530 8381530 + Splice_Site SNP C C A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:8381530C>A uc002mjm.1 - 3 140 c.102_splice c.e3-1 p.R34_splice NM_005001 NP_004992 O95182 NDUA7_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity 0 NADH(DB00157) AGGCTGAGTTCTGAGGGGAAA 0.562 NaN 1 0 7.33532e-06 1 7.51282e-06 24 92 RPS28 6234 broad.mit.edu 37 19 8386542 8386542 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:8386542C>T uc002mjn.2 + 2 73 c.42C>T c.(40-42)GTC>GTT p.V14V NDUFA7_uc002mjm.1_5'Flank NM_001031 NP_001022 P62857 RS28_HUMAN ribosomal protein S28 14 endocrine pancreas development|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit protein binding|structural constituent of ribosome 0 TCCTCCAGGTCACCAAGGTCC 0.637 NaN 0 0 0 1 0 6 18 MUC16 94025 broad.mit.edu 37 19 9059942 9059942 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:9059942G>A uc002mkp.2 - 3 27708 c.27504C>T c.(27502-27504)CAC>CAT p.H9168H NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 9170 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GCGAAGAAGAGTGGATGCTGT 0.517 NaN 0 0 0 1 0 10 54 MUC16 94025 broad.mit.edu 37 19 9071650 9071650 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:9071650C>T uc002mkp.2 - 3 16000 c.15796G>A c.(15796-15798)GAA>AAA p.E5266K NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 5268 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 ATCGTCATTTCTGCAGATTTT 0.512 NaN 0 0 0 1 0 11 93 MUC16 94025 broad.mit.edu 37 19 9083542 9083542 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:9083542G>A uc002mkp.2 - 1 8477 c.8273C>T c.(8272-8274)TCC>TTC p.S2758F NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 2758 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GAATACAAGGGAACCAGTAGT 0.488 NaN 0 0 0 1 0 19 57 OR1M1 125963 broad.mit.edu 37 19 9204520 9204520 + Silent SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:9204520C>G uc010xkj.1 + 1 600 c.600C>G c.(598-600)CTC>CTG p.L200L NM_001004456 NP_001004456 Q8NGA1 OR1M1_HUMAN olfactory receptor, family 1, subfamily M, 200 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3) 3 TCTTCATCCTCATTGTGGCAG 0.567 NaN 0 0 0 1 0 31 138 OR7D2 162998 broad.mit.edu 37 19 9297281 9297281 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:9297281C>T uc002mkz.1 + 1 1012 c.824C>T c.(823-825)TCG>TTG p.S275L NM_175883 NP_787079 Q96RA2 OR7D2_HUMAN olfactory receptor, family 7, subfamily D, 275 Helical; Name=7; (Potential). regulation of transcription, DNA-dependent|sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|upper_aerodigestive_tract(1) 3 TCCGTGGCCTCGGTGATGTAC 0.547 NaN 0 0 0 1 0 32 99 OR7E24 26648 broad.mit.edu 37 19 9362193 9362193 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:9362193C>T uc002mlb.1 + 1 474 c.474C>T c.(472-474)CTC>CTT p.L158L NM_001079935 NP_001073404 Q6IFN5 O7E24_HUMAN olfactory receptor, family 7, subfamily E, 158 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 ACCCACGCCTCTGTGGCTTCT 0.458 NaN 0 0 0 1 0 10 44 ZNF560 147741 broad.mit.edu 37 19 9578284 9578284 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:9578284G>C uc002mlp.1 - 10 1549 c.1339C>G c.(1339-1341)CTT>GTT p.L447V ZNF560_uc010dwr.1_Missense_Mutation_p.L341V NM_152476 NP_689689 Q96MR9 ZN560_HUMAN zinc finger protein 560 447 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2)|ovary(1)|large_intestine(1)|pancreas(1)|liver(1) 6 TGTCCAAAAAGAGATGGGTAA 0.403 NaN 0 0 0 1 0 32 101 ZNF426 79088 broad.mit.edu 37 19 9639182 9639182 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:9639182G>A uc002mlq.2 - 8 1803 c.1539C>T c.(1537-1539)TTC>TTT p.F513F ZNF426_uc010dws.2_Silent_p.F475F NM_024106 NP_077011 Q9BUY5 ZN426_HUMAN zinc finger protein 426 513 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TGGAACACGTGAAGGCTTTCC 0.428 NaN 0 0 0 1 0 22 81 ZNF561 93134 broad.mit.edu 37 19 9727726 9727726 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:9727726G>A uc002mlu.2 - 4 441 c.236C>T c.(235-237)TCT>TTT p.S79F ZNF561_uc010dwu.2_Missense_Mutation_p.S10F|ZNF561_uc010xkr.1_5'UTR NM_152289 NP_689502 Q8N587 ZN561_HUMAN zinc finger protein 561 79 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 CTTACCCACAGAGGCCAGGTT 0.313 NaN 0 0 0 1 0 14 62 FBXL12 54850 broad.mit.edu 37 19 9921757 9921757 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:9921757G>A uc002mme.2 - 3 1038 c.796C>T c.(796-798)CCA>TCA p.P266S FBXL12_uc002mmd.2_Missense_Mutation_p.P213S|FBXL12_uc002mmf.2_Missense_Mutation_p.P213S|FBXL12_uc002mmg.2_Missense_Mutation_p.P213S|FBXL12_uc002mmh.2_Missense_Mutation_p.P213S NM_017703 NP_060173 Q9NXK8 FXL12_HUMAN F-box and leucine-rich repeat protein 12 266 LRR 8. protein binding lung(1)|kidney(1) 2 GGCATTTCTGGGGTGACGAGG 0.662 NaN 0 0 0 1 0 5 24 DNMT1 1786 broad.mit.edu 37 19 10246920 10246920 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:10246920G>A uc002mng.2 - 37 4665 c.4485C>T c.(4483-4485)CTC>CTT p.L1495L DNMT1_uc002mne.2_RNA|DNMT1_uc002mnf.2_Silent_p.L419L|DNMT1_uc010xlc.1_Silent_p.L1511L|DNMT1_uc002mnh.2_Silent_p.L1390L|DNMT1_uc010xld.1_Silent_p.L1498L NM_001379 NP_001370 P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 isoform b 1495 Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity). chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) ACCAGGGGATGAGGGTGTTGA 0.627 NaN 0 0 0 1 0 9 34 PRKCSH 5589 broad.mit.edu 37 19 11558333 11558333 + Missense_Mutation SNP C C T rs142627856 TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:11558333C>T uc002mrt.2 + 11 1265 c.929C>T c.(928-930)TCG>TTG p.S310L PRKCSH_uc002mru.2_Missense_Mutation_p.S310L|PRKCSH_uc010xlz.1_Missense_Mutation_p.S310L|PRKCSH_uc010dya.2_Intron|PRKCSH_uc002mrv.1_Missense_Mutation_p.S310L|PRKCSH_uc010dyb.2_Missense_Mutation_p.S310L NM_002743 NP_002734 P14314 GLU2B_HUMAN protein kinase C substrate 80K-H isoform 1 310 innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen calcium ion binding|protein kinase C binding 0 GTGCCCTCGTCGCCCACAgag 0.463 NaN 0 0 0 1 0 6 35 ACP5 54 broad.mit.edu 37 19 11687567 11687567 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:11687567G>A uc002msg.3 - 3 499 c.353C>T c.(352-354)TCT>TTT p.S118F ACP5_uc002msh.3_Missense_Mutation_p.S118F|ACP5_uc002msi.3_Missense_Mutation_p.S118F|ACP5_uc002msj.3_Missense_Mutation_p.S118F|ACP5_uc010dye.1_3'UTR NM_001611 NP_001602 P13686 PPA5_HUMAN acid phosphatase 5, tartrate resistant 118 water-soluble vitamin metabolic process cytosol|integral to membrane|lysosome acid phosphatase activity|ferric iron binding|ferrous iron binding central_nervous_system(1) 1 AATCTGGGCAGAGACATTGCC 0.572 NaN 0 0 0 1 0 42 131 ZNF491 126069 broad.mit.edu 37 19 11917627 11917627 + Nonsense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:11917627C>T uc002mso.1 + 3 1144 c.859C>T c.(859-861)CAA>TAA p.Q287* NM_152356 NP_689569 Q8N8L2 ZN491_HUMAN zinc finger protein 491 287 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 CAGTTCATTTCAAAGGCATGA 0.423 NaN 0 0 0 1 0 8 44 ZNF700 90592 broad.mit.edu 37 19 12059829 12059829 + Silent SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:12059829G>C uc002msu.2 + 4 1116 c.990G>C c.(988-990)GGG>GGC p.G330G ZNF700_uc010xme.1_Silent_p.G348G|ZNF763_uc010xmf.1_Intron NM_144566 NP_653167 Q9H0M5 ZN700_HUMAN zinc finger protein 700 330 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CCCACTCTGGGAAAAAACCGT 0.373 NaN 0 0 0 1 0 20 57 FBXW9 84261 broad.mit.edu 37 19 12800989 12800989 + Silent SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:12800989G>C uc010dyx.2 - 6 879 c.879C>G c.(877-879)CTC>CTG p.L293L FBXW9_uc010xmp.1_Intron|uc002mul.1_3'UTR|FBXW9_uc002mum.1_Intron|FBXW9_uc002mun.1_Intron NM_032301 NP_115677 Q5XUX1 FBXW9_HUMAN F-box and WD-40 domain protein 9 303 protein binding ovary(1) 1 CCCAGCCCATGAGAGCATCCC 0.612 NaN 0 0 0 1 0 15 19 FBXW9 84261 broad.mit.edu 37 19 12807065 12807065 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:12807065G>C uc010dyx.2 - 1 331 c.331C>G c.(331-333)CGC>GGC p.R111G FBXW9_uc010xmp.1_RNA|FBXW9_uc002mum.1_Missense_Mutation_p.R111G|FBXW9_uc002mun.1_5'UTR NM_032301 NP_115677 Q5XUX1 FBXW9_HUMAN F-box and WD-40 domain protein 9 111 F-box. protein binding ovary(1) 1 ACGAGGTCGCGGAGCGCGTGG 0.622 NaN 0 0 0 1 0 5 10 HOOK2 29911 broad.mit.edu 37 19 12885536 12885536 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:12885536C>T uc002muy.2 - 3 322 c.151G>A c.(151-153)GAG>AAG p.E51K HOOK2_uc002muz.2_Missense_Mutation_p.E51K|HOOK2_uc002mva.2_Missense_Mutation_p.E51K NM_013312 NP_037444 Q96ED9 HOOK2_HUMAN hook homolog 2 isoform 1 51 Sufficient for interaction with microtubules.|Required for localization to the centrosome and induction of aggresome formation. early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport centrosome|FHF complex|microtubule identical protein binding|microtubule binding ovary(1)|breast(1)|skin(1) 3 AGCCATGCCTCGTTGAACCAG 0.567 NaN 0 0 0 1 0 14 39 PRDX2 7001 broad.mit.edu 37 19 12911749 12911749 + Nonsense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:12911749G>A uc002mvd.2 - 3 388 c.238C>T c.(238-240)CAG>TAG p.Q80* PRDX2_uc002mve.1_Nonsense_Mutation_p.Q80* NM_005809 NP_005800 P32119 PRDX2_HUMAN peroxiredoxin 2 isoform a 80 Thioredoxin. anti-apoptosis|cell redox homeostasis|hydrogen peroxide catabolic process|removal of superoxide radicals thioredoxin peroxidase activity 0 TGGGTGAACTGAGAGTCCACC 0.348 NaN 0 0 0 1 0 5 24 PRDX2 7001 broad.mit.edu 37 19 12911751 12911751 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:12911751G>A uc002mvd.2 - 3 386 c.236C>T c.(235-237)TCT>TTT p.S79F PRDX2_uc002mve.1_Missense_Mutation_p.S79F NM_005809 NP_005800 P32119 PRDX2_HUMAN peroxiredoxin 2 isoform a 79 Thioredoxin. anti-apoptosis|cell redox homeostasis|hydrogen peroxide catabolic process|removal of superoxide radicals thioredoxin peroxidase activity 0 GGTGAACTGAGAGTCCACCGA 0.353 NaN 0 0 0 1 0 6 25 PRDX2 7001 broad.mit.edu 37 19 12911760 12911760 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:12911760G>A uc002mvd.2 - 3 377 c.227C>T c.(226-228)TCG>TTG p.S76L PRDX2_uc002mve.1_Missense_Mutation_p.S76L NM_005809 NP_005800 P32119 PRDX2_HUMAN peroxiredoxin 2 isoform a 76 Thioredoxin. anti-apoptosis|cell redox homeostasis|hydrogen peroxide catabolic process|removal of superoxide radicals thioredoxin peroxidase activity 0 AGAGTCCACCGAGACGCCCAG 0.378 NaN 0 0 0 1 0 7 31 STX10 8677 broad.mit.edu 37 19 13260331 13260331 + Silent SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:13260331C>G uc010xnb.1 - 3 282 c.282G>C c.(280-282)CGG>CGC p.R94R STX10_uc002mwn.2_5'UTR|STX10_uc002mwo.2_5'UTR|STX10_uc010xna.1_Intron|STX10_uc010xnc.1_Intron|IER2_uc002mwr.2_5'Flank NM_003765 NP_003756 O60499 STX10_HUMAN syntaxin 10 94 Cytoplasmic (Potential). Golgi vesicle transport|intracellular protein transport|retrograde transport, endosome to Golgi Golgi membrane|integral to membrane SNAP receptor activity 0 OV - Ovarian serous cystadenocarcinoma(19;3.41e-21) CCTCTCGCATCCGCTCCACGA 0.502 NaN 0 0 0 1 0 32 91 CACNA1A 773 broad.mit.edu 37 19 13476255 13476255 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:13476255C>T uc010dze.2 - 5 896 c.660G>A c.(658-660)ATG>ATA p.M220I CACNA1A_uc002mwy.3_Missense_Mutation_p.M220I NM_001127221 NP_001120693 O00555 CAC1A_HUMAN calcium channel, alpha 1A subunit isoform 3 220 Cytoplasmic (Potential).|I. cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding large_intestine(2) 2 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) TCATCGCCTTCATGATCGACT 0.478 NaN 0 0 0 1 0 16 50 CCDC130 81576 broad.mit.edu 37 19 13869691 13869691 + Missense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:13869691G>T uc002mxb.1 + 8 770 c.267G>T c.(265-267)ATG>ATT p.M89I CCDC130_uc010xnf.1_Missense_Mutation_p.M89I|CCDC130_uc002mxc.1_Missense_Mutation_p.M89I|CCDC130_uc002mxd.1_5'UTR|CCDC130_uc010dzf.1_Intron NM_030818 NP_110445 P13994 CC130_HUMAN coiled-coil domain containing 130 89 response to virus protein binding 0 OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18) GGTTCCGGATGAAATGCCACC 0.632 NaN 1 0 1.26484e-09 1 1.3194e-09 6 25 CYP4F22 126410 broad.mit.edu 37 19 15662126 15662126 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:15662126C>T uc002nbh.3 + 14 1607 c.1440C>T c.(1438-1440)TTC>TTT p.F480F NM_173483 NP_775754 Q6NT55 CP4FN_HUMAN cytochrome P450, family 4, subfamily F, 480 endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen ovary(1)|pancreas(1) 2 GACAGAGCTTCGCCATGGCCG 0.617 NaN 0 0 0 1 0 8 21 CYP4F2 8529 broad.mit.edu 37 19 16000358 16000358 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:16000358C>T uc002nbs.1 - 7 843 c.793G>A c.(793-795)GAC>AAC p.D265N CYP4F2_uc010xot.1_Missense_Mutation_p.D116N|CYP4F2_uc010xou.1_Missense_Mutation_p.D116N NM_001082 NP_001073 P78329 CP4F2_HUMAN cytochrome P450, family 4, subfamily F, 265 leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding ovary(1)|skin(1) 2 TCTGTGAAGTCGTGCACCAGG 0.547 NaN 0 0 0 1 0 68 156 MAST3 23031 broad.mit.edu 37 19 18239752 18239752 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:18239752G>C uc002nhz.3 + 12 1127 c.1127G>C c.(1126-1128)GGA>GCA p.G376A NM_015016 NP_055831 O60307 MAST3_HUMAN microtubule associated serine/threonine kinase 376 ATP (By similarity).|Protein kinase. ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity large_intestine(2)|ovary(2)|stomach(1) 5 ATTAGCAACGGAGCCTATGGG 0.597 NaN 0 0 0 1 0 18 79 CRTC1 23373 broad.mit.edu 37 19 18876304 18876304 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:18876304C>T uc002nkb.3 + 9 1065 c.977C>T c.(976-978)TCG>TTG p.S326L CRTC1_uc010ebv.2_Missense_Mutation_p.S342L|CRTC1_uc010ebw.2_Missense_Mutation_p.S191L|CRTC1_uc002nkc.3_Missense_Mutation_p.S191L NM_015321 NP_056136 Q6UUV9 CRTC1_HUMAN mucoepidermoid carcinoma translocated 1 isoform 326 Ser-rich. interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane cAMP response element binding protein binding|protein binding CRTC1/MAML2(516) salivary_gland(474)|lung(35)|thyroid(4)|breast(3)|skin(2)|ovary(1) 519 CAGCAGGCATCGCCCACCCTG 0.662 NaN 0 0 0 1 0 37 115 COMP 1311 broad.mit.edu 37 19 18896558 18896558 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:18896558G>A uc002nke.2 - 14 1629 c.1593C>T c.(1591-1593)TTC>TTT p.F531F COMP_uc002nkd.2_Silent_p.F498F|COMP_uc010xqj.1_Silent_p.F478F NM_000095 NP_000086 P49747 COMP_HUMAN cartilage oligomeric matrix protein precursor 531 Mediates cell survival and induction of the IAP family of survival proteins. anti-apoptosis|apoptosis|cell adhesion|limb development extracellular space|proteinaceous extracellular matrix calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding 0 GGAAGGCCCTGAAGTCGGTGA 0.632 NaN 0 0 0 1 0 28 65 UPF1 5976 broad.mit.edu 37 19 18965463 18965463 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:18965463G>A uc002nkg.2 + 9 1518 c.1243G>A c.(1243-1245)GAG>AAG p.E415K UPF1_uc002nkf.2_Missense_Mutation_p.E404K NM_002911 NP_002902 Q92900 RENT1_HUMAN regulator of nonsense transcripts 1 415 Sufficient for interaction with RENT2. cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination chromatin|cytoplasmic mRNA processing body|exon-exon junction complex ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|protein binding|RNA binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 TGCACCTGTGGAGGTGACTCA 0.547 NaN 0 0 0 1 0 69 202 ZNF253 56242 broad.mit.edu 37 19 20003061 20003061 + Silent SNP A A T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:20003061A>T uc002noj.2 + 4 1097 c.1005A>T c.(1003-1005)ACA>ACT p.T335T ZNF253_uc002nok.2_Silent_p.T259T|ZNF253_uc002nol.2_RNA NM_021047 NP_066385 O75346 ZN253_HUMAN zinc finger protein 253 335 Missing (in Ref. 1; AAC26844). negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GAATTCATACAGGAGAGAAAC 0.383 NaN 0 0 0 1 0 5 48 ZNF429 353088 broad.mit.edu 37 19 21720870 21720870 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:21720870G>A uc002nqd.1 + 4 2152 c.2015G>A c.(2014-2016)CGT>CAT p.R672H ZNF429_uc010ecu.1_Intron NM_001001415 NP_001001415 Q86V71 ZN429_HUMAN zinc finger protein 429 672 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 gatcgagaccgtcctggctaa 0.025 NaN 0 0 0 1 0 4 50 GRAMD1A 57655 broad.mit.edu 37 19 35517044 35517044 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:35517044G>A uc010xse.1 + 20 2311 c.2174G>A c.(2173-2175)TGA>TAA p.*725* GRAMD1A_uc002nxk.2_Silent_p.*714*|GRAMD1A_uc002nxl.2_Silent_p.*487*|GRAMD1A_uc010xsf.1_Silent_p.*726*|GRAMD1A_uc002nxm.1_RNA|GRAMD1A_uc002nxn.1_Silent_p.*336* NM_020895 NP_065946 Q96CP6 GRM1A_HUMAN GRAM domain containing 1A isoform 1 725 integral to membrane 0 all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) AGCTTTTCCTGAGGACCCCGG 0.637 NaN 0 0 0 1 0 19 62 LGI4 163175 broad.mit.edu 37 19 35616111 35616111 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:35616111C>G uc002nxx.2 - 9 2194 c.1600G>C c.(1600-1602)GAC>CAC p.D534H LGI4_uc002nxy.1_Missense_Mutation_p.D362H|LGI4_uc002nxz.1_3'UTR NM_139284 NP_644813 Q8N135 LGI4_HUMAN leucine-rich repeat LGI family, member 4 534 extracellular region pancreas(1) 1 all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849) GCACTGAGGTCGATCTCGTGA 0.647 NaN 0 0 0 1 0 18 58 RBM42 79171 broad.mit.edu 37 19 36120478 36120478 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:36120478C>T uc002oan.2 + 2 261 c.185C>T c.(184-186)GCG>GTG p.A62V RBM42_uc010xsx.1_Missense_Mutation_p.A62V|RBM42_uc010eef.2_Missense_Mutation_p.A62V|RBM42_uc002oao.2_Missense_Mutation_p.A62V|RBM42_uc002oap.2_Missense_Mutation_p.A62V|RBM42_uc002oaq.2_Missense_Mutation_p.A62V|RBM42_uc010eeg.2_Missense_Mutation_p.A62V NM_024321 NP_077297 Q9BTD8 RBM42_HUMAN RNA binding motif protein 42 62 cytoplasm|nucleus nucleotide binding|RNA binding 0 all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) GCTGTGCCTGCGGTGCCCACT 0.587 NaN 0 0 0 1 0 39 125 MLL4 9757 broad.mit.edu 37 19 36221766 36221766 + Nonsense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 C G C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:36221766C>G uc010eei.2 + 27 5435 c.5435C>G c.(5434-5436)TCA>TGA p.S1812* NM_014727 NP_055542 Q9UMN6 MLL4_HUMAN myeloid/lymphoid or mixed-lineage leukemia 4 1812 chromatin-mediated maintenance of transcription DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1) 11 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GCCCCTTCCTCAGGTGTGGCT 0.572 NaN 0 0 0 1 0 9 12 ZNF529 57711 broad.mit.edu 37 19 37038408 37038408 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:37038408G>A uc002oeh.3 - 5 1254 c.1052C>T c.(1051-1053)TCA>TTA p.S351L ZNF529_uc010xth.1_Missense_Mutation_p.S351L|ZNF529_uc010xti.1_Missense_Mutation_p.S333L|ZNF529_uc002oeg.3_Missense_Mutation_p.S246L NM_020951 NP_066002 Q6P280 ZN529_HUMAN zinc finger protein 529 isoform a 318 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 Esophageal squamous(110;0.198) AATGAGCTGTGAACTAATTCT 0.398 NaN 0 0 0 1 0 19 46 ZNF461 92283 broad.mit.edu 37 19 37130859 37130859 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:37130859C>G uc002oem.2 - 6 616 c.388G>C c.(388-390)GAA>CAA p.E130Q ZNF461_uc002oen.2_Missense_Mutation_p.E99Q|ZNF461_uc010xtj.1_Missense_Mutation_p.E107Q NM_153257 NP_694989 Q8TAF7 ZN461_HUMAN gonadotropin inducible transcription repressor 130 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) CTTTTAAATTCTTCCATGTTA 0.403 NaN 0 0 0 1 0 48 108 ZNF567 163081 broad.mit.edu 37 19 37210440 37210440 + Missense_Mutation SNP C C A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:37210440C>A uc010xtl.1 + 6 1036 c.814C>A c.(814-816)CAG>AAG p.Q272K ZNF567_uc002oeo.1_Missense_Mutation_p.Q272K|ZNF567_uc010xtk.1_Missense_Mutation_p.Q272K|ZNF567_uc002oep.3_Missense_Mutation_p.Q241K|ZNF567_uc002oeq.1_Missense_Mutation_p.Q241K NM_152603 NP_689816 Q8N184 ZN567_HUMAN zinc finger protein 567 272 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) GATTCTGCATCAGGGAATTCA 0.333 NaN 1 0 4.096e-09 1 4.26478e-09 6 22 ZNF568 374900 broad.mit.edu 37 19 37441842 37441842 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:37441842C>G uc002ofc.2 + 7 2302 c.1787C>G c.(1786-1788)TCT>TGT p.S596C ZNF568_uc010efg.2_Intron|ZNF568_uc010xtn.1_Intron|ZNF568_uc002ofd.2_Missense_Mutation_p.S520C|ZNF568_uc010efe.2_Missense_Mutation_p.S520C|ZNF568_uc010eff.1_Intron NM_198539 NP_940941 Q3ZCX4 ZN568_HUMAN zinc finger protein 568 596 C2H2-type 14. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AAAGCCTTTTCTCAGTGCTCA 0.403 NaN 0 0 0 1 0 19 72 ZNF607 84775 broad.mit.edu 37 19 38200664 38200664 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:38200664G>A uc002ohc.1 - 3 665 c.69C>T c.(67-69)CTC>CTT p.L23L ZNF607_uc002ohb.1_Silent_p.L23L NM_032689 NP_116078 Q96SK3 ZN607_HUMAN zinc finger protein 607 23 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775) GAACCAGGCTGAGATATTCCC 0.418 NaN 0 0 0 1 0 18 59 SIPA1L3 23094 broad.mit.edu 37 19 38610244 38610244 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:38610244G>C uc002ohk.2 + 9 3099 c.2590G>C c.(2590-2592)GAG>CAG p.E864Q NM_015073 NP_055888 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 864 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(1)|central_nervous_system(1) 2 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) GGCTGGCGCTGAGCAGCACAG 0.557 NaN 0 0 0 1 0 33 76 YIF1B 90522 broad.mit.edu 37 19 38799901 38799901 + Missense_Mutation SNP C C A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:38799901C>A uc002ohz.2 - 3 414 c.365G>T c.(364-366)AGA>ATA p.R122I YIF1B_uc002ohw.2_Missense_Mutation_p.R91I|YIF1B_uc002ohx.2_Missense_Mutation_p.R107I|YIF1B_uc010xtx.1_Missense_Mutation_p.R105I|YIF1B_uc010xty.1_Missense_Mutation_p.R91I|YIF1B_uc002oia.2_Missense_Mutation_p.R119I|YIF1B_uc002ohy.2_Missense_Mutation_p.R119I|YIF1B_uc002oib.2_Missense_Mutation_p.R119I NM_001039672 NP_001034761 Q5BJH7 YIF1B_HUMAN Yip1 interacting factor homolog B isoform 5 122 Cytoplasmic (Potential). integral to membrane 0 all_cancers(60;1.07e-06) Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) GCCCAGCTTTCTGCCCACATA 0.597 NaN 1 0 4.03997e-35 1 4.31797e-35 73 246 NFKBIB 4793 broad.mit.edu 37 19 39398291 39398291 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:39398291G>C uc002ojw.2 + 5 1019 c.961G>C c.(961-963)GAC>CAC p.D321H NFKBIB_uc002ojx.2_Missense_Mutation_p.D289H|NFKBIB_uc002ojy.2_Missense_Mutation_p.D321H NM_002503 NP_002494 Q15653 IKBB_HUMAN nuclear factor of kappa light polypeptide gene 321 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent cytosol|nucleus protein binding|signal transducer activity|transcription coactivator activity lung(1)|kidney(1) 2 all_cancers(60;4.39e-06)|Ovarian(47;0.0454) Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554) CGACAGCGGAGACGAGGGCGT 0.652 NaN 0 0 0 1 0 5 24 SARS2 54938 broad.mit.edu 37 19 39435635 39435635 + Missense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:39435635G>T uc010xuq.1 - 4 380 c.172C>A c.(172-174)CAG>AAG p.Q58K FBXO17_uc002okg.1_Missense_Mutation_p.Q223K|FBXO17_uc002okf.1_Missense_Mutation_p.Q232K NM_017827 NP_060297 Q9NP81 SYSM_HUMAN seryl-tRNA synthetase 2 isoform b precursor Error:Variant_position_missing_in_Q9NP81_after_alignment seryl-tRNA aminoacylation mitochondrial matrix ATP binding|protein binding|serine-tRNA ligase activity ovary(1)|pancreas(1)|skin(1) 3 all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454) Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554) TCAGTCCACTGAAGGACCGGG 0.612 NaN 1 0 7.33532e-06 1 7.51282e-06 24 112 ZFP36 7538 broad.mit.edu 37 19 39899334 39899334 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:39899334G>A uc002olh.1 + 2 1034 c.976G>A c.(976-978)GAG>AAG p.E326K ZFP36_uc010egn.1_Silent_p.L198L NM_003407 NP_003398 P26651 TTP_HUMAN zinc finger protein 36, C3H type, homolog 326 positive regulation of nuclear-transcribed mRNA poly(A) tail shortening cytosol|nucleus AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding pancreas(1) 1 all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) CTCTGTTTCTGAGTGACAAAG 0.617 NaN 0 0 0 1 0 16 70 HIPK4 147746 broad.mit.edu 37 19 40889768 40889768 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:40889768G>A uc002onp.2 - 2 1029 c.744C>T c.(742-744)TTC>TTT p.F248F NM_144685 NP_653286 Q8NE63 HIPK4_HUMAN homeodomain interacting protein kinase 4 248 Protein kinase. cytoplasm ATP binding|protein serine/threonine kinase activity ovary(1)|stomach(1) 2 Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292) TGCGCTTGAAGAAGTGGTGGG 0.627 NaN 0 0 0 1 0 11 97 ITPKC 80271 broad.mit.edu 37 19 41235160 41235160 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:41235160G>C uc002oot.2 + 3 1342 c.1309G>C c.(1309-1311)GAG>CAG p.E437Q NM_025194 NP_079470 Q96DU7 IP3KC_HUMAN inositol 1,4,5-trisphosphate 3-kinase C 437 cytoplasm|nucleus ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity 0 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) CTGTCAGTGTGAGCAGCGCAG 0.532 NaN 0 0 0 1 0 14 56 CYP2A13 1553 broad.mit.edu 37 19 41596470 41596470 + Splice_Site SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:41596470G>T uc002opt.2 + 4 663 c.654_splice c.e4+1 p.Q218_splice NM_000766 NP_000757 Q16696 CP2AD_HUMAN cytochrome P450, family 2, subfamily A, xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding ovary(2)|skin(1) 3 Clomipramine(DB01242)|Nicotine(DB00184) CACGGGGCAGGTAACTGGCTG 0.597 NaN 1 0 2.23348e-06 1 2.29586e-06 15 103 ZNF526 116115 broad.mit.edu 37 19 42728670 42728670 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:42728670G>A uc002osz.1 + 3 271 c.115G>A c.(115-117)GAG>AAG p.E39K NM_133444 NP_597701 Q8TF50 ZN526_HUMAN zinc finger protein 526 39 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0704) AGAAGTGACTGAGATGACACC 0.542 NaN 0 0 0 1 0 49 123 CIC 23152 broad.mit.edu 37 19 42797160 42797160 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:42797160G>A uc002otf.1 + 15 3562 c.3522G>A c.(3520-3522)CCG>CCA p.P1174P NM_015125 NP_055940 Q96RK0 CIC_HUMAN capicua homolog 1174 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1) 11 Prostate(69;0.00682) GGCCCAGCCCGAAGGCCCCCC 0.652 NaN T DUX4 soft tissue sarcoma 0 0 0 1 0 14 59 TMEM145 284339 broad.mit.edu 37 19 42828958 42828958 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:42828958C>G uc002otk.1 + 15 1523 c.1471C>G c.(1471-1473)CGA>GGA p.R491G MEGF8_uc002otl.3_5'Flank NM_173633 NP_775904 Q8NBT3 TM145_HUMAN transmembrane protein 145 491 integral to membrane 0 Prostate(69;0.00682) TGGCCCCCTTCGAGACCTCTG 0.716 NaN 0 0 0 1 0 8 27 MEGF8 1954 broad.mit.edu 37 19 42863100 42863100 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:42863100G>A uc002otl.3 + 29 5771 c.5136G>A c.(5134-5136)CTG>CTA p.L1712L MEGF8_uc002otm.3_Silent_p.L1320L NM_001410 NP_001401 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 1779 Extracellular (Potential). integral to membrane calcium ion binding|structural molecule activity ovary(1) 1 Prostate(69;0.00682) CACCTCACCTGAAGGAGGTGA 0.577 NaN 0 0 0 1 0 5 16 KCNN4 3783 broad.mit.edu 37 19 44273668 44273668 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:44273668G>C uc002oxl.2 - 6 1371 c.975C>G c.(973-975)TTC>TTG p.F325L KCNN4_uc010eiz.2_Intron NM_002250 NP_002241 O15554 KCNN4_HUMAN intermediate conductance calcium-activated 325 Calmodulin-binding. defense response voltage-gated potassium channel complex calcium-activated potassium channel activity|calmodulin binding ovary(2) 2 Prostate(69;0.0352) Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468) TATGTTTGTAGAACATCCAGG 0.592 NaN 0 0 0 1 0 50 127 ZNF283 284349 broad.mit.edu 37 19 44351774 44351774 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:44351774C>T uc002oxr.3 + 7 1289 c.1021C>T c.(1021-1023)CAT>TAT p.H341Y ZNF283_uc002oxp.3_Missense_Mutation_p.H202Y NM_181845 NP_862828 Q8N7M2 ZN283_HUMAN zinc finger protein 283 341 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0352) TGAGATAATTCATACAGGTGA 0.393 NaN 0 0 0 1 0 19 49 MARK4 57787 broad.mit.edu 37 19 45781258 45781258 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:45781258G>A uc002pbb.1 + 9 869 c.864G>A c.(862-864)CGG>CGA p.R288R MARK4_uc002paz.1_Intron|MARK4_uc002pba.1_Silent_p.R288R|MARK4_uc002pbc.1_Silent_p.R154R Q96L34 MARK4_HUMAN RecName: Full=MAP/microtubule affinity-regulating kinase 4; EC=2.7.11.1; AltName: Full=MAP/microtubule affinity-regulating kinase-like 1; 288 Protein kinase. microtubule bundle formation|nervous system development|positive regulation of programmed cell death centrosome|neuron projection ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding central_nervous_system(2)|large_intestine(1) 3 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0102) GCATCCTGCGGAGATTTTTGG 0.572 NaN 0 0 0 1 0 45 102 DMWD 1762 broad.mit.edu 37 19 46294229 46294229 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:46294229G>C uc002pdj.1 - 2 604 c.558C>G c.(556-558)TTC>TTG p.F186L DMWD_uc002pdk.1_Missense_Mutation_p.F186L NM_004943 NP_004934 Q09019 DMWD_HUMAN dystrophia myotonica-containing WD repeat motif 186 meiosis 0 Ovarian(192;0.0308)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236) GACCCGCTGAGAAGCCCACCA 0.562 NaN 0 0 0 1 0 40 108 IGFL1 374918 broad.mit.edu 37 19 46733686 46733686 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:46733686G>C uc002pee.2 + 3 258 c.235G>C c.(235-237)GAG>CAG p.E79Q NM_198541 NP_940943 Q6UW32 IGFL1_HUMAN IGF-like family member 1 precursor 79 extracellular space protein binding 0 Ovarian(192;0.0731)|all_neural(266;0.196) OV - Ovarian serous cystadenocarcinoma(262;0.00242)|all cancers(93;0.0132)|GBM - Glioblastoma multiforme(486;0.0294)|Epithelial(262;0.201) AGTCTGCTTTGAGCAGTGCTG 0.572 NaN 0 0 0 1 0 40 145 STRN4 29888 broad.mit.edu 37 19 47224014 47224014 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:47224014G>C uc002pfl.2 - 17 2140 c.2107C>G c.(2107-2109)CTG>GTG p.L703V STRN4_uc002pfm.2_Missense_Mutation_p.L710V|STRN4_uc010xyf.1_RNA NM_013403 NP_037535 Q9NRL3 STRN4_HUMAN zinedin isoform 1 703 WD 6. cytoplasm|membrane armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding 0 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035) CAGAGACGCAGGGAGCAGTCA 0.637 NaN 0 0 0 1 0 10 57 GRIN2D 2906 broad.mit.edu 37 19 48908550 48908550 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:48908550C>G uc002pjc.3 + 3 1113 c.1025C>G c.(1024-1026)CCT>CGT p.P342R NM_000836 NP_000827 O15399 NMDE4_HUMAN N-methyl-D-aspartate receptor subunit 2D 342 Extracellular (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) GGTTTCCTTCCTGAGCTCGGC 0.682 NaN 0 0 0 1 0 6 17 HRC 3270 broad.mit.edu 37 19 49656911 49656911 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:49656911G>A uc002pmv.2 - 1 1771 c.1584C>T c.(1582-1584)CTC>CTT p.L528L NM_002152 NP_002143 P23327 SRCH_HUMAN histidine rich calcium binding protein 528 muscle contraction sarcoplasmic reticulum lumen calcium ion binding ovary(1) 1 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622) GGTTCAGGCTGAGGCCATGAC 0.403 NaN 0 0 0 1 0 8 26 SCAF1 58506 broad.mit.edu 37 19 50155667 50155667 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:50155667C>G uc002poq.2 + 7 2145 c.2021C>G c.(2020-2022)TCG>TGG p.S674W NM_021228 NP_067051 Q9H7N4 SFR19_HUMAN SR-related CTD-associated factor 1 674 Ser-rich. mRNA processing|RNA splicing nucleus RNA binding 0 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204) GGCTCCACCTCGTGTGGTGAC 0.582 NaN 0 0 0 1 0 11 23 KLK5 25818 broad.mit.edu 37 19 51452191 51452191 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:51452191G>A uc002pue.2 - 5 734 c.516C>T c.(514-516)ATC>ATT p.I172I KLK5_uc002puf.2_Silent_p.I172I|KLK5_uc002pug.2_Silent_p.I172I NM_001077491 NP_001070959 Q9Y337 KLK5_HUMAN kallikrein-related peptidase 5 preproprotein 172 Peptidase S1. epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis extracellular space protein binding|serine-type endopeptidase activity 0 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888) AGGAGACGTTGATGGGTCTGA 0.537 NaN 0 0 0 1 0 22 85 KLK5 25818 broad.mit.edu 37 19 51452357 51452357 + Missense_Mutation SNP C C T rs117067639 byFrequency TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:51452357C>T uc002pue.2 - 5 568 c.350G>A c.(349-351)CGT>CAT p.R117H KLK5_uc002puf.2_Missense_Mutation_p.R117H|KLK5_uc002pug.2_Missense_Mutation_p.R117H NM_001077491 NP_001070959 Q9Y337 KLK5_HUMAN kallikrein-related peptidase 5 preproprotein 117 Peptidase S1. epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis extracellular space protein binding|serine-type endopeptidase activity 0 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888) GTGGCCGAGACGGACTCTGAA 0.498 NaN 0 0 0 1 0 29 102 GP6 51206 broad.mit.edu 37 19 55543735 55543735 + Missense_Mutation SNP G G C rs28385643 TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:55543735G>C uc002qik.2 - 3 125 c.97C>G c.(97-99)CTG>GTG p.L33V GP6_uc002qil.2_Missense_Mutation_p.L33V|GP6_uc010esq.2_Missense_Mutation_p.L33V|RDH13_uc010esr.1_Intron NM_016363 NP_057447 Q9HCN6 GPVI_HUMAN glycoprotein VI (platelet) isoform 2 33 Ig-like C2-type 1.|Extracellular (Potential). enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation integral to plasma membrane collagen binding|transmembrane receptor activity ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(297;0.156) GBM - Glioblastoma multiforme(193;0.0515) GAGCTGGGCAGAGCCTGGAGG 0.716 NaN 0 0 0 1 0 13 22 NLRP5 126206 broad.mit.edu 37 19 56539034 56539034 + Missense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:56539034G>T uc002qmj.2 + 7 1435 c.1435G>T c.(1435-1437)GTG>TTG p.V479L NLRP5_uc002qmi.2_Missense_Mutation_p.V460L NM_153447 NP_703148 P59047 NALP5_HUMAN NACHT, LRR and PYD containing protein 5 479 NACHT. mitochondrion|nucleolus ATP binding ovary(3)|skin(2)|kidney(1)|central_nervous_system(1) 7 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) TCTCATCTGCGTGGCCCTGCA 0.617 NaN 1 0 1.99824e-07 1 2.06659e-07 16 53 PEG3 5178 broad.mit.edu 37 19 57333096 57333096 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:57333096G>A uc002qnu.2 - 4 943 c.592C>T c.(592-594)CCT>TCT p.P198S ZIM2_uc010ygq.1_5'UTR|ZIM2_uc010ygr.1_5'UTR|ZIM2_uc002qnr.2_Missense_Mutation_p.P73S|ZIM2_uc002qnq.2_Missense_Mutation_p.P73S|ZIM2_uc010etp.2_Missense_Mutation_p.P73S|ZIM2_uc010ygs.1_Missense_Mutation_p.P73S|PEG3_uc002qnt.2_Missense_Mutation_p.P199S|PEG3_uc002qnv.2_Missense_Mutation_p.P198S|PEG3_uc002qnw.2_Missense_Mutation_p.P73S|PEG3_uc002qnx.2_Missense_Mutation_p.P72S|PEG3_uc010etr.2_Missense_Mutation_p.P198S NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 198 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) GCCACCACAGGAAGGGAAAGA 0.537 NaN 0 0 0 1 0 38 126 ZIM3 114026 broad.mit.edu 37 19 57646567 57646567 + Nonsense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:57646567G>A uc002qnz.1 - 5 1524 c.1138C>T c.(1138-1140)CAA>TAA p.Q380* NM_052882 NP_443114 Q96PE6 ZIM3_HUMAN zinc finger, imprinted 3 380 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1)|skin(1) 2 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TTTTTATGTTGAATGAGGTTT 0.373 NaN 0 0 0 1 0 27 97 ZNF543 125919 broad.mit.edu 37 19 57840340 57840340 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:57840340G>A uc002qoi.1 + 4 1855 c.1510G>A c.(1510-1512)GAG>AAG p.E504K NM_213598 NP_998763 Q08ER8 ZN543_HUMAN zinc finger protein 543 504 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1)|pancreas(1) 2 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) TCACACTGGAGAGAAACCCTA 0.517 NaN 0 0 0 1 0 24 83 ZNF552 79818 broad.mit.edu 37 19 58319728 58319728 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:58319728G>C uc002qqg.2 - 3 1074 c.904C>G c.(904-906)CAG>GAG p.Q302E ZNF587_uc002qqb.2_Intron|ZNF552_uc010yhg.1_Missense_Mutation_p.Q298E NM_024762 NP_079038 Q9H707 ZN552_HUMAN zinc finger protein 552 302 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259) AAAAATTTCTGACAAACCTCA 0.433 NaN 0 0 0 1 0 25 62 C19orf18 147685 broad.mit.edu 37 19 58477903 58477903 + Missense_Mutation SNP C C A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:58477903C>A uc002qqv.2 - 4 470 c.366G>T c.(364-366)ATG>ATT p.M122I NM_152474 NP_689687 Q8NEA5 CS018_HUMAN hypothetical protein LOC147685 precursor 122 Cytoplasmic (Potential). integral to membrane ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017) CTTACTATATCATATAGGAGA 0.348 NaN 1 0 0.0293803 1 0.0295198 7 22 MYT1L 23040 broad.mit.edu 37 2 1795702 1795702 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:1795702C>G uc002qxe.2 - 25 4325 c.3498G>C c.(3496-3498)CAG>CAC p.Q1166H MYT1L_uc002qxd.2_Missense_Mutation_p.Q1164H|MYT1L_uc010ewk.2_Missense_Mutation_p.Q164H NM_015025 NP_055840 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 1166 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|central_nervous_system(1) 6 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) TTTCTGGACTCTGATAACGAT 0.363 NaN 0 0 0 1 0 11 30 TTC15 51112 broad.mit.edu 37 2 3481522 3481522 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:3481522G>C uc002qxm.1 + 10 2039 c.1833G>C c.(1831-1833)CAG>CAC p.Q611H TTC15_uc002qxn.1_Missense_Mutation_p.Q611H|TTC15_uc010ewm.1_Missense_Mutation_p.Q617H NM_016030 NP_057114 Q8WVT3 TTC15_HUMAN tetratricopeptide repeat domain 15 611 TPR 2. binding ovary(2)|breast(1)|pancreas(1) 4 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) all_cancers(51;0.214) OV - Ovarian serous cystadenocarcinoma(76;0.0402)|Epithelial(75;0.0986)|all cancers(51;0.149) AAGTAACACAGAAATTAGATG 0.308 NaN 0 0 0 1 0 7 35 ITGB1BP1 9270 broad.mit.edu 37 2 9546976 9546976 + Missense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:9546976G>T uc002qzj.2 - 7 767 c.590C>A c.(589-591)TCT>TAT p.S197Y ITGB1BP1_uc002qzk.2_Missense_Mutation_p.S147Y|ITGB1BP1_uc002qzl.2_RNA|ITGB1BP1_uc002qzm.2_RNA|ITGB1BP1_uc010yiy.1_Missense_Mutation_p.S153Y|ITGB1BP1_uc002qzn.1_3'UTR NM_004763 NP_004754 O14713 ITBP1_HUMAN integrin cytoplasmic domain-associated protein 1 197 PID. cell migration|cell-matrix adhesion|intracellular protein kinase cascade cytosol|lamellipodium|membrane|ruffle protein binding|protein binding 0 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.23) GGGTTTCTCAGATGTTAATAC 0.368 NaN 1 0 5.3912e-06 1 5.52835e-06 18 46 E2F6 1876 broad.mit.edu 37 2 11586617 11586617 + Nonsense_Mutation SNP C C A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:11586617C>A uc002rbh.2 - 7 1124 c.832G>T c.(832-834)GAA>TAA p.E278* E2F6_uc002rbe.2_Nonsense_Mutation_p.E203*|E2F6_uc002rbf.2_Nonsense_Mutation_p.E246*|E2F6_uc002rbg.2_Nonsense_Mutation_p.E203*|E2F6_uc002rbi.2_Nonsense_Mutation_p.E203*|E2F6_uc010yjl.1_RNA NM_198256 NP_937987 O75461 E2F6_HUMAN E2F transcription factor 6 278 Transcription repression. negative regulation of transcription from RNA polymerase II promoter MLL1 complex|transcription factor complex DNA binding|transcription corepressor activity skin(1) 1 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.114)|OV - Ovarian serous cystadenocarcinoma(76;0.168) TTGCTTACTTCAAGCAATTCT 0.363 NaN 1 0 0.0931896 1 0.093521 12 34 MFSD2B 388931 broad.mit.edu 37 2 24239769 24239769 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:24239769G>A uc002reo.1 + 4 416 c.402G>A c.(400-402)CTG>CTA p.L134L MFSD2B_uc010exz.1_RNA NM_001080473 NP_001073942 A6NFX1 MFS2B_HUMAN major facilitator superfamily domain containing 134 transport integral to membrane ovary(2) 2 TGTGGTTCCTGCCCCCCTTCA 0.672 NaN 0 0 0 1 0 20 78 ITSN2 50618 broad.mit.edu 37 2 24524067 24524067 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:24524067G>A uc002rfe.2 - 11 1295 c.1037C>T c.(1036-1038)TCA>TTA p.S346L ITSN2_uc002rff.2_Missense_Mutation_p.S346L|ITSN2_uc002rfg.2_Missense_Mutation_p.S346L|ITSN2_uc010eyd.2_Missense_Mutation_p.S371L NM_006277 NP_006268 Q9NZM3 ITSN2_HUMAN intersectin 2 isoform 1 346 endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity kidney(2)|ovary(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TTTCTGATATGAAGGCAGAGT 0.338 NaN 0 0 0 1 0 17 35 NCOA1 8648 broad.mit.edu 37 2 24929894 24929894 + Missense_Mutation SNP G G A rs144856306 TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:24929894G>A uc002rfk.2 + 11 1813 c.1555G>A c.(1555-1557)GTT>ATT p.V519I NCOA1_uc010eye.2_Missense_Mutation_p.V519I|NCOA1_uc002rfi.2_Missense_Mutation_p.V368I|NCOA1_uc002rfj.2_Missense_Mutation_p.V519I|NCOA1_uc002rfl.2_Missense_Mutation_p.V519I NM_003743 NP_003734 Q15788 NCOA1_HUMAN nuclear receptor coactivator 1 isoform 1 519 Interaction with STAT3.|Ser-rich. PAX3/NCOA1(8) soft_tissue(8)|ovary(1)|lung(1)|skin(1) 11 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AAGCTCTCCCGTTGGCATGAC 0.423 NaN T PAX3 alveolar rhadomyosarcoma 0 0 0 1 0 22 68 DNMT3A 1788 broad.mit.edu 37 2 25457247 25457247 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:25457247C>T uc002rgc.2 - 23 2897 c.2640G>A c.(2638-2640)ATG>ATA p.M880I DNMT3A_uc002rgd.2_Missense_Mutation_p.M880I|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rgb.2_Missense_Mutation_p.M691I NM_022552 NP_072046 Q9Y6K1 DNM3A_HUMAN DNA cytosine methyltransferase 3 alpha isoform 880 regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3) 140 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCAAGCGGCTCATGTTGGAGA 0.597 NaN Mis|F|N|S AML 0 0 0 1 0 28 58 IFT172 26160 broad.mit.edu 37 2 27676285 27676285 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:27676285C>G uc002rku.2 - 35 3968 c.3917G>C c.(3916-3918)GGA>GCA p.G1306A IFT172_uc010ezb.2_RNA NM_015662 NP_056477 Q9UG01 IF172_HUMAN selective LIM binding factor homolog 1306 TPR 10. cilium assembly cilium binding large_intestine(1)|ovary(1) 2 Acute lymphoblastic leukemia(172;0.155) GCCGCTGTTTCCAGAGTCTCG 0.587 NaN 0 0 0 1 0 19 89 IFT172 26160 broad.mit.edu 37 2 27700949 27700949 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:27700949C>T uc002rku.2 - 11 1131 c.1080G>A c.(1078-1080)GTG>GTA p.V360V IFT172_uc002rkw.2_Silent_p.V360V|IFT172_uc010yls.1_Silent_p.V339V|IFT172_uc010ezc.2_Silent_p.V360V|IFT172_uc002rkv.2_Silent_p.V334V NM_015662 NP_056477 Q9UG01 IF172_HUMAN selective LIM binding factor homolog 360 cilium assembly cilium binding large_intestine(1)|ovary(1) 2 Acute lymphoblastic leukemia(172;0.155) CTAGGATTTTCACCTCTTCCA 0.493 NaN 0 0 0 1 0 55 147 BIRC6 57448 broad.mit.edu 37 2 32620589 32620589 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:32620589C>G uc010ezu.2 + 6 1096 c.962C>G c.(961-963)TCT>TGT p.S321C NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 321 BIR. anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) CCTGCCTCATCTGGAGATGAT 0.323 NaN 0 0 0 1 0 35 83 BIRC6 57448 broad.mit.edu 37 2 32678953 32678953 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:32678953C>G uc010ezu.2 + 23 4830 c.4696C>G c.(4696-4698)CTG>GTG p.L1566V NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 1566 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) AGTTGAACCTCTGCACTTTAC 0.383 NaN 0 0 0 1 0 24 59 STRN 6801 broad.mit.edu 37 2 37113903 37113903 + Missense_Mutation SNP T T A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:37113903T>A uc002rpn.2 - 8 1007 c.998A>T c.(997-999)AAG>ATG p.K333M STRN_uc010ezx.2_Intron NM_003162 NP_003153 O43815 STRN_HUMAN striatin, calmodulin binding protein 333 dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding skin(1) 1 Ovarian(717;0.0129)|all_hematologic(82;0.21) GTATTGTTCCTTGAGTTTGGT 0.403 NaN 0 0 0 1 0 20 76 CEBPZ 10153 broad.mit.edu 37 2 37458641 37458641 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:37458641C>G uc002rpz.2 - 1 100 c.70G>C c.(70-72)GAT>CAT p.D24H C2orf56_uc010ynj.1_5'Flank|C2orf56_uc002rqa.3_5'Flank|C2orf56_uc002rqc.3_5'Flank|C2orf56_uc010ynk.1_5'Flank|C2orf56_uc010ynl.1_5'Flank NM_005760 NP_005751 Q03701 CEBPZ_HUMAN CCAAT/enhancer binding protein zeta 24 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding pancreas(1) 1 all_hematologic(82;0.21) TCGTCCGGATCTTCTACTGCC 0.602 NaN 0 0 0 1 0 34 103 TMEM178 130733 broad.mit.edu 37 2 39893156 39893156 + Silent SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:39893156C>G uc002rrt.2 + 1 67 c.42C>G c.(40-42)CTC>CTG p.L14L TMEM178_uc010fam.1_Silent_p.L14L NM_152390 NP_689603 Q8NBL3 TM178_HUMAN transmembrane protein 178 precursor 14 integral to membrane 0 all_hematologic(82;0.248) GCCTCGGCCTCAGCCTGTGCT 0.547 NaN 0 0 0 1 0 6 19 PLEKHH2 130271 broad.mit.edu 37 2 43924477 43924477 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:43924477G>A uc010yny.1 + 7 753 c.670G>A c.(670-672)GAA>AAA p.E224K PLEKHH2_uc002rte.3_Missense_Mutation_p.E224K|PLEKHH2_uc002rtf.3_Missense_Mutation_p.E223K NM_172069 NP_742066 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H 224 cytoplasm|cytoskeleton|integral to membrane binding skin(2)|central_nervous_system(1) 3 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) TGAGTTCACTGAAGGAAAAGA 0.358 NaN 0 0 0 1 0 15 44 ABCG5 64240 broad.mit.edu 37 2 44050022 44050022 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:44050022C>G uc002rtn.2 - 10 1517 c.1377G>C c.(1375-1377)CAG>CAC p.Q459H ABCG5_uc002rtm.2_Missense_Mutation_p.Q64H|ABCG5_uc002rto.2_Missense_Mutation_p.Q288H|ABCG5_uc002rtp.2_Missense_Mutation_p.Q64H NM_022436 NP_071881 Q9H222 ABCG5_HUMAN ATP-binding cassette sub-family G member 5 459 ABC transmembrane type-2.|Cytoplasmic (Potential). cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity ovary(1)|skin(1) 2 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) TCTGCCACTTCTGGTAGAGGC 0.572 NaN 0 0 0 1 0 17 35 SIX2 10736 broad.mit.edu 37 2 45236023 45236023 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:45236023G>C uc002ruo.2 - 1 520 c.227C>G c.(226-228)TCG>TGG p.S76W SIX2_uc002rup.2_Missense_Mutation_p.S76W NM_016932 NP_058628 Q9NPC8 SIX2_HUMAN SIX homeobox 2 76 nucleus sequence-specific DNA binding transcription factor activity pancreas(1) 1 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) GTTGTGCGGCGAGAACTGGTG 0.627 NaN 0 0 0 1 0 30 112 EPAS1 2034 broad.mit.edu 37 2 46609643 46609643 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:46609643C>T uc002ruv.2 + 15 2855 c.2367C>T c.(2365-2367)ATC>ATT p.I789I EPAS1_uc002ruw.2_Silent_p.I255I NM_001430 NP_001421 Q99814 EPAS1_HUMAN endothelial PAS domain protein 1 789 angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia transcription factor complex histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding ovary(1)|skin(1) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) LUSC - Lung squamous cell carcinoma(58;0.151) CATCTGCCATCAGTCCCGGGG 0.592 NaN 0 0 0 1 0 36 137 PSME4 23198 broad.mit.edu 37 2 54163918 54163918 + Missense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:54163918G>T uc002rxp.2 - 6 798 c.742C>A c.(742-744)CTC>ATC p.L248I PSME4_uc010yop.1_Missense_Mutation_p.L134I|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_5'UTR|PSME4_uc010fbv.1_Intron NM_014614 NP_055429 Q14997 PSME4_HUMAN proteasome (prosome, macropain) activator 248 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction nuclear speck|proteasome complex binding ovary(2)|breast(2)|pancreas(1) 5 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) CATTGTGGGAGATTTTGCACT 0.353 NaN 1 0 1.10513e-12 1 1.15994e-12 21 56 SPTBN1 6711 broad.mit.edu 37 2 54856469 54856469 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:54856469C>T uc002rxu.2 + 14 2447 c.2198C>T c.(2197-2199)TCG>TTG p.S733L SPTBN1_uc002rxv.1_Missense_Mutation_p.S733L|SPTBN1_uc002rxx.2_Missense_Mutation_p.S720L NM_003128 NP_003119 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 isoform 1 733 Spectrin 5. actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton ovary(3)|breast(2)|central_nervous_system(2)|skin(1) 8 Lung(47;0.24) GAGCAGCTCTCGGCCATTCGG 0.572 NaN 0 0 0 1 0 31 96 CCDC88A 55704 broad.mit.edu 37 2 55523455 55523455 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:55523455C>T uc002ryv.2 - 30 5869 c.5027G>A c.(5026-5028)GGA>GAA p.G1676E CCDC88A_uc010yoz.1_Missense_Mutation_p.G1649E|CCDC88A_uc010ypa.1_Missense_Mutation_p.G1676E|CCDC88A_uc002ryt.2_5'UTR|CCDC88A_uc010fbw.2_Missense_Mutation_p.G178E|CCDC88A_uc002ryu.2_Missense_Mutation_p.G931E|CCDC88A_uc002rys.2_Missense_Mutation_p.G634E|CCDC88A_uc002ryw.2_Missense_Mutation_p.G960E|CCDC88A_uc010fby.1_Missense_Mutation_p.G528E NM_001135597 NP_001129069 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A isoform 1 1677 activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding ovary(2)|skin(2) 4 AACTTCACTTCCAGGGGAACC 0.398 NaN 0 0 0 1 0 16 54 CCDC88A 55704 broad.mit.edu 37 2 55535955 55535955 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:55535955C>G uc002ryv.2 - 25 5216 c.4374G>C c.(4372-4374)AAG>AAC p.K1458N CCDC88A_uc010yoz.1_Missense_Mutation_p.K1459N|CCDC88A_uc010ypa.1_Missense_Mutation_p.K1458N|CCDC88A_uc010fbw.2_Missense_Mutation_p.K82N|CCDC88A_uc002ryu.2_Missense_Mutation_p.K741N|CCDC88A_uc002rys.2_Missense_Mutation_p.K444N|CCDC88A_uc002ryw.2_Missense_Mutation_p.K742N|CCDC88A_uc010fby.1_Missense_Mutation_p.K338N NM_001135597 NP_001129069 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A isoform 1 1459 activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding ovary(2)|skin(2) 4 TGCTGCTTTTCTTGGTCCCCA 0.393 NaN 0 0 0 1 0 14 30 UGP2 7360 broad.mit.edu 37 2 64112904 64112904 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:64112904G>C uc002scm.2 + 6 1063 c.757G>C c.(757-759)GAT>CAT p.D253H UGP2_uc002scl.2_Missense_Mutation_p.D242H|UGP2_uc010ypx.1_Missense_Mutation_p.D262H NM_006759 NP_006750 Q16851 UGPA_HUMAN UDP-glucose pyrophosphorylase 2 isoform a 253 Magnesium (By similarity). glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process cytosol metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity 0 GTCTAACATAGATAATCTGGG 0.388 NaN 0 0 0 1 0 19 65 DYSF 8291 broad.mit.edu 37 2 71883391 71883391 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:71883391G>C uc002sie.2 + 42 4985 c.4609G>C c.(4609-4611)GAA>CAA p.E1537Q DYSF_uc010feg.2_Missense_Mutation_p.E1568Q|DYSF_uc010feh.2_Missense_Mutation_p.E1544Q|DYSF_uc002sig.3_Missense_Mutation_p.E1523Q|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.E1558Q|DYSF_uc010fef.2_Missense_Mutation_p.E1575Q|DYSF_uc010fei.2_Missense_Mutation_p.E1554Q|DYSF_uc010fek.2_Missense_Mutation_p.E1555Q|DYSF_uc010fej.2_Missense_Mutation_p.E1545Q|DYSF_uc010fel.2_Missense_Mutation_p.E1524Q|DYSF_uc010feo.2_Missense_Mutation_p.E1569Q|DYSF_uc010fem.2_Missense_Mutation_p.E1559Q|DYSF_uc010fen.2_Missense_Mutation_p.E1576Q|DYSF_uc002sif.2_Missense_Mutation_p.E1538Q|DYSF_uc010yqy.1_Missense_Mutation_p.E418Q|DYSF_uc010yqz.1_Missense_Mutation_p.E298Q NM_003494 NP_003485 O75923 DYSF_HUMAN dysferlin isoform 8 1537 Cytoplasmic (Potential). cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding ovary(3)|breast(2)|pancreas(1)|skin(1) 7 GGAGGAGACAGAAGATCCATC 0.507 NaN 0 0 0 1 0 77 263 MAT2A 4144 broad.mit.edu 37 2 85768794 85768794 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:85768794G>C uc002spr.2 + 4 454 c.331G>C c.(331-333)GAG>CAG p.E111Q MAT2A_uc010ysr.1_Missense_Mutation_p.E111Q|MAT2A_uc010fgk.2_Missense_Mutation_p.E85Q|MAT2A_uc010fgl.2_Missense_Mutation_p.E48Q|MAT2A_uc010fgm.1_Missense_Mutation_p.E48Q NM_005911 NP_005902 P31153 METK2_HUMAN methionine adenosyltransferase II, alpha 111 methylation|xenobiotic metabolic process cytosol ATP binding|metal ion binding|methionine adenosyltransferase activity 0 L-Methionine(DB00134)|S-Adenosylmethionine(DB00118) GGTAGCCTTGGAGCAACAGTC 0.408 NaN 0 0 0 1 0 12 40 MAT2A 4144 broad.mit.edu 37 2 85769496 85769496 + Missense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:85769496G>T uc002spr.2 + 6 891 c.768G>T c.(766-768)CAG>CAT p.Q256H MAT2A_uc010ysr.1_Missense_Mutation_p.Q256H|MAT2A_uc010fgk.2_Missense_Mutation_p.Q230H|MAT2A_uc010fgl.2_Missense_Mutation_p.Q193H|MAT2A_uc010fgm.1_3'UTR NM_005911 NP_005902 P31153 METK2_HUMAN methionine adenosyltransferase II, alpha 256 methylation|xenobiotic metabolic process cytosol ATP binding|metal ion binding|methionine adenosyltransferase activity 0 L-Methionine(DB00134)|S-Adenosylmethionine(DB00118) GTGGGCCTCAGGTAATGTCAT 0.383 NaN 1 0 0.014758 1 0.0148545 5 29 MAT2A 4144 broad.mit.edu 37 2 85770096 85770096 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:85770096G>A uc002spr.2 + 8 1147 c.1024G>A c.(1024-1026)GAG>AAG p.E342K MAT2A_uc010ysr.1_Missense_Mutation_p.E342K|MAT2A_uc010fgk.2_Missense_Mutation_p.E316K|MAT2A_uc010fgl.2_Missense_Mutation_p.E279K NM_005911 NP_005902 P31153 METK2_HUMAN methionine adenosyltransferase II, alpha 342 methylation|xenobiotic metabolic process cytosol ATP binding|metal ion binding|methionine adenosyltransferase activity 0 L-Methionine(DB00134)|S-Adenosylmethionine(DB00118) TCAGAAGAGTGAGAGAGAGCT 0.403 NaN 0 0 0 1 0 15 62 MAT2A 4144 broad.mit.edu 37 2 85770102 85770102 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:85770102G>C uc002spr.2 + 8 1153 c.1030G>C c.(1030-1032)GAG>CAG p.E344Q MAT2A_uc010ysr.1_Missense_Mutation_p.E344Q|MAT2A_uc010fgk.2_Missense_Mutation_p.E318Q|MAT2A_uc010fgl.2_Missense_Mutation_p.E281Q NM_005911 NP_005902 P31153 METK2_HUMAN methionine adenosyltransferase II, alpha 344 methylation|xenobiotic metabolic process cytosol ATP binding|metal ion binding|methionine adenosyltransferase activity 0 L-Methionine(DB00134)|S-Adenosylmethionine(DB00118) GAGTGAGAGAGAGCTATTAGA 0.408 NaN 0 0 0 1 0 17 61 MAT2A 4144 broad.mit.edu 37 2 85770125 85770125 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:85770125G>C uc002spr.2 + 8 1176 c.1053G>C c.(1051-1053)AAG>AAC p.K351N MAT2A_uc010ysr.1_Missense_Mutation_p.K351N|MAT2A_uc010fgk.2_Missense_Mutation_p.K325N|MAT2A_uc010fgl.2_Missense_Mutation_p.K288N NM_005911 NP_005902 P31153 METK2_HUMAN methionine adenosyltransferase II, alpha 351 methylation|xenobiotic metabolic process cytosol ATP binding|metal ion binding|methionine adenosyltransferase activity 0 L-Methionine(DB00134)|S-Adenosylmethionine(DB00118) TTGTGAAGAAGAATTTCGATC 0.413 NaN 0 0 0 1 0 16 60 C2orf68 388969 broad.mit.edu 37 2 85836187 85836187 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:85836187C>T uc002sqc.2 - 4 454 c.382G>A c.(382-384)GAT>AAT p.D128N USP39_uc002sqb.2_Intron NM_001013649 NP_001013671 Q2NKX9 CB068_HUMAN hypothetical protein LOC388969 128 central_nervous_system(1) 1 CCTGGGTCATCACCCTACGTG 0.552 NaN 0 0 0 1 0 17 45 LMAN2L 81562 broad.mit.edu 37 2 97403767 97403767 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:97403767C>T uc002swu.2 - 2 261 c.225G>A c.(223-225)ATG>ATA p.M75I LMAN2L_uc002swv.2_Missense_Mutation_p.M75I|LMAN2L_uc010yut.1_5'UTR|LMAN2L_uc010yuu.1_Intron|LMAN2L_uc010yuv.1_Intron|LMAN2L_uc010yuw.1_Intron|LMAN2L_uc002sww.2_5'UTR|LMAN2L_uc010yux.1_5'UTR NM_030805 NP_110432 Q9H0V9 LMA2L_HUMAN lectin, mannose-binding 2-like isoform 2 75 L-type lectin-like.|Lumenal (Potential). ER to Golgi vesicle-mediated transport|protein folding|protein transport endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane mannose binding|metal ion binding 0 TGGCATTGCCCATCAGATTCC 0.493 NaN 0 0 0 1 0 16 24 C2orf49 79074 broad.mit.edu 37 2 105954067 105954067 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:105954067G>A uc002tcs.1 + 1 55 c.23G>A c.(22-24)CGC>CAC p.R8H C2orf49_uc010fjd.1_Missense_Mutation_p.R8H NM_024093 NP_076998 Q9BVC5 ASHWN_HUMAN ashwin 8 tRNA-splicing ligase complex 0 GTGGGCGGTCGCAGCTGCACG 0.672 NaN 0 0 0 1 0 11 28 RANBP2 5903 broad.mit.edu 37 2 109381763 109381763 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:109381763G>A uc002tem.3 + 20 4894 c.4768G>A c.(4768-4770)GAG>AAG p.E1590K NM_006267 NP_006258 P49792 RBP2_HUMAN RAN binding protein 2 1590 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(16) soft_tissue(16)|lung(1)|pancreas(1) 18 TGGTACTTCAGAGACAAGCAA 0.453 NaN 0 0 0 1 0 43 125 CCDC138 165055 broad.mit.edu 37 2 109411132 109411132 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:109411132C>G uc002ten.1 + 5 591 c.531C>G c.(529-531)ATC>ATG p.I177M CCDC138_uc002teo.1_Missense_Mutation_p.I177M|CCDC138_uc002tep.1_Translation_Start_Site|CCDC138_uc010fjm.1_Translation_Start_Site NM_144978 NP_659415 Q96M89 CC138_HUMAN coiled-coil domain containing 138 177 0 CACATCAGATCAGTCAGATAT 0.373 NaN 0 0 0 1 0 12 47 BUB1 699 broad.mit.edu 37 2 111425410 111425410 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:111425410C>G uc002tgc.2 - 7 696 c.584G>C c.(583-585)GGA>GCA p.G195A BUB1_uc010yxh.1_Missense_Mutation_p.G175A|BUB1_uc010fkb.2_Missense_Mutation_p.G195A|BUB1_uc002tgd.2_Missense_Mutation_p.G195A NM_004336 NP_004327 O43683 BUB1_HUMAN budding uninhibited by benzimidazoles 1 195 apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion condensed chromosome kinetochore|cytosol ATP binding|protein binding|protein serine/threonine kinase activity lung(2)|breast(2)|stomach(1)|ovary(1)|kidney(1) 7 Ovarian(717;0.0822) BRCA - Breast invasive adenocarcinoma(221;0.0556) AGATATCACTCCAGAAAGCTC 0.323 NaN 0 0 0 1 0 14 72 IL1B 3553 broad.mit.edu 37 2 113590374 113590374 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:113590374C>T uc002tii.1 - 5 418 c.331G>A c.(331-333)GAG>AAG p.E111K IL1B_uc002tih.1_Missense_Mutation_p.E80K NM_000576 NP_000567 P01584 IL1B_HUMAN interleukin 1, beta proprotein 111 activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation cytosol|extracellular space cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding p.E111K(1) lung(3)|breast(1) 4 Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366) ACATAAGCCTCGTTATCCCAT 0.488 NaN 0 0 0 1 0 29 101 IL1F7 27178 broad.mit.edu 37 2 113676180 113676180 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:113676180C>T uc002tij.2 + 5 493 c.451C>T c.(451-453)CGC>TGC p.R151C IL1F7_uc002tik.2_Missense_Mutation_p.R130C|IL1F7_uc002til.2_Missense_Mutation_p.R111C|IL1F7_uc002tim.2_Missense_Mutation_p.R90C|IL1F7_uc002tin.2_Missense_Mutation_p.R125C NM_014439 NP_055254 Q9NZH6 IL37_HUMAN interleukin 1 family, member 7 isoform 1 151 immune response cytosol|extracellular space|nucleus cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding 0 GGAATCAGCACGCCGGCCCTT 0.517 NaN 0 0 0 1 0 12 47 GLI2 2736 broad.mit.edu 37 2 121740439 121740439 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:121740439C>G uc010flp.2 + 10 1696 c.1666C>G c.(1666-1668)CGC>GGC p.R556G GLI2_uc002tmq.1_Missense_Mutation_p.R228G|GLI2_uc002tmr.1_Missense_Mutation_p.R211G|GLI2_uc002tmt.3_Missense_Mutation_p.R228G|GLI2_uc002tmu.3_Missense_Mutation_p.R211G|GLI2_uc002tmw.1_Missense_Mutation_p.R539G NM_005270 NP_005261 P10070 GLI2_HUMAN GLI-Kruppel family member GLI2 556 C2H2-type 4. axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1) 13 Renal(3;0.0496) Prostate(154;0.0623) GCACCAGAATCGCACCCACTC 0.627 NaN 0 0 0 1 0 18 91 TFCP2L1 29842 broad.mit.edu 37 2 122004422 122004422 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:122004422G>A uc002tmx.2 - 6 722 c.629C>T c.(628-630)TCA>TTA p.S210L TFCP2L1_uc010flr.2_Missense_Mutation_p.S210L NM_014553 NP_055368 Q9NZI6 TF2L1_HUMAN LBP-9 210 female pregnancy|steroid biosynthetic process mitochondrion|nucleolus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity pancreas(2)|ovary(1) 3 Renal(3;0.01) GCAGCTGGCTGAGTGCAGGTG 0.602 NaN 0 0 0 1 0 31 137 IWS1 55677 broad.mit.edu 37 2 128253659 128253659 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:128253659C>T uc002ton.2 - 7 1934 c.1631G>A c.(1630-1632)AGA>AAA p.R544K IWS1_uc010yzl.1_RNA NM_017969 NP_060439 Q96ST2 IWS1_HUMAN IWS1 homolog 544 transcription, DNA-dependent nucleus DNA binding ovary(1) 1 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0735) GCGGTTCCGTCTGCGCTTGCC 0.468 NaN 0 0 0 1 0 78 249 UGGT1 56886 broad.mit.edu 37 2 128939716 128939716 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:128939716G>A uc002tps.2 + 37 4274 c.4096G>A c.(4096-4098)GAT>AAT p.D1366N UGGT1_uc002tpr.2_Missense_Mutation_p.D1342N NM_020120 NP_064505 Q9NYU2 UGGG1_HUMAN UDP-glucose ceramide glucosyltransferase-like 1 1366 Glucosyltransferase (By similarity). 'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding ovary(1) 1 TGTACGAACAGATCTGAAAGA 0.428 NaN 0 0 0 1 0 32 94 SMPD4 55627 broad.mit.edu 37 2 130922009 130922009 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:130922009C>T uc002tqq.1 - 10 1439 c.919G>A c.(919-921)GAA>AAA p.E307K SMPD4_uc002tqp.1_5'UTR|SMPD4_uc010yzy.1_Missense_Mutation_p.E85K|SMPD4_uc010yzz.1_5'UTR|SMPD4_uc002tqr.1_Missense_Mutation_p.E307K|SMPD4_uc002tqs.1_Missense_Mutation_p.E175K|SMPD4_uc002tqt.1_Missense_Mutation_p.E185K|SMPD4_uc010zaa.1_Missense_Mutation_p.E194K|SMPD4_uc010zab.1_Missense_Mutation_p.E234K|SMPD4_uc010zac.1_Silent_p.L20L|SMPD4_uc010zad.1_Silent_p.L20L NM_017951 NP_060421 Q9NXE4 NSMA3_HUMAN sphingomyelin phosphodiesterase 4 isoform 2 268 sphingomyelin catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity 0 Colorectal(110;0.1) Phosphatidylserine(DB00144) AGCCACATTTCAACAAAAACC 0.259 NaN 0 0 0 1 0 15 33 NCKAP5 344148 broad.mit.edu 37 2 133539884 133539884 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:133539884C>T uc002ttp.2 - 14 4874 c.4500G>A c.(4498-4500)CAG>CAA p.Q1500Q NCKAP5_uc002ttq.2_Intron NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 1500 protein binding 0 GCCCAGGCTTCTGCTTTGCTT 0.473 NaN 0 0 0 1 0 25 64 NEB 4703 broad.mit.edu 37 2 152468834 152468834 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:152468834C>G uc010fnx.2 - 74 11133 c.10942G>C c.(10942-10944)GAG>CAG p.E3648Q NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 3648 Nebulin 100. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) TTCACTTTCTCGACCTCTACA 0.438 NaN 0 0 0 1 0 7 38 FMNL2 114793 broad.mit.edu 37 2 153399292 153399292 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:153399292C>G uc002tye.2 + 3 608 c.241C>G c.(241-243)CAA>GAA p.Q81E NM_052905 NP_443137 Q96PY5 FMNL2_HUMAN formin-like 2 81 GBD/FH3. actin cytoskeleton organization cytoplasm actin binding|Rho GTPase binding central_nervous_system(2)|ovary(1) 3 TACATACATTCAAAAGCTCAA 0.438 NaN 0 0 0 1 0 10 36 TANC1 85461 broad.mit.edu 37 2 160050816 160050816 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:160050816G>A uc002uag.2 + 17 3065 c.2791G>A c.(2791-2793)GAA>AAA p.E931K TANC1_uc010zcm.1_Missense_Mutation_p.E923K|TANC1_uc010fom.1_Missense_Mutation_p.E737K NM_033394 NP_203752 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and 931 cell junction|postsynaptic density|postsynaptic membrane binding ovary(2)|central_nervous_system(1) 3 CTACAGGACAGAAGTGTTAAA 0.517 NaN 0 0 0 1 0 24 87 TANC1 85461 broad.mit.edu 37 2 160050867 160050867 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:160050867G>A uc002uag.2 + 17 3116 c.2842G>A c.(2842-2844)GAG>AAG p.E948K TANC1_uc010zcm.1_Missense_Mutation_p.E940K|TANC1_uc010fom.1_Missense_Mutation_p.E754K NM_033394 NP_203752 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and 948 ANK 2. cell junction|postsynaptic density|postsynaptic membrane binding ovary(2)|central_nervous_system(1) 3 CCTTGGCCACGAGGAAGTTGT 0.557 NaN 0 0 0 1 0 23 75 MARCH7 64844 broad.mit.edu 37 2 160599728 160599728 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:160599728G>A uc002uax.2 + 3 432 c.310G>A c.(310-312)GGG>AGG p.G104R MARCH7_uc010foq.2_Missense_Mutation_p.G104R|MARCH7_uc010zcn.1_Missense_Mutation_p.G104R|MARCH7_uc010for.2_Missense_Mutation_p.G66R NM_022826 NP_073737 Q9H992 MARH7_HUMAN axotrophin 104 Ser-rich. ligase activity|zinc ion binding 0 TACCTCAGCTGGGAGAAATGT 0.403 NaN 0 0 0 1 0 25 48 ITGB6 3694 broad.mit.edu 37 2 161052112 161052112 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:161052112G>A uc002ubh.2 - 4 377 c.361C>T c.(361-363)CTG>TTG p.L121L ITGB6_uc010fow.1_RNA|ITGB6_uc010fou.2_Silent_p.L121L|ITGB6_uc010zcq.1_Silent_p.L79L|ITGB6_uc010fov.1_Silent_p.L121L NM_000888 NP_000879 P18564 ITB6_HUMAN integrin, beta 6 precursor 121 Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development integrin complex receptor activity ovary(1)|lung(1)|skin(1) 3 TGCACCTGCAGAGTCTGCGCA 0.522 NaN 0 0 0 1 0 16 63 KCNH7 90134 broad.mit.edu 37 2 163360985 163360985 + Nonsense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:163360985G>A uc002uch.1 - 6 1308 c.1096C>T c.(1096-1098)CGA>TGA p.R366* KCNH7_uc002uci.2_Nonsense_Mutation_p.R359* NM_033272 NP_150375 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H, 366 Cytoplasmic (Potential). regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity ovary(3)|skin(2) 5 Ibutilide(DB00308) TTGTGTGTTCGATCTTTAACC 0.373 NaN 0 0 0 1 0 17 63 SCN3A 6328 broad.mit.edu 37 2 166020150 166020150 + Silent SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:166020150C>G uc002ucx.2 - 7 1164 c.672G>C c.(670-672)CTG>CTC p.L224L SCN3A_uc002ucy.2_Silent_p.L224L|SCN3A_uc002ucz.2_Intron|SCN3A_uc002uda.1_Silent_p.L93L|SCN3A_uc002udb.1_Intron NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha 224 Helical; Voltage-sensor; Name=S4 of repeat I; (Potential). voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 Lamotrigine(DB00555) AAATTGTTTTCAGTGCTCGGA 0.403 NaN 0 0 0 1 0 12 22 TTC21B 79809 broad.mit.edu 37 2 166747063 166747063 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:166747063C>G uc002udk.2 - 24 3322 c.3189G>C c.(3187-3189)ATG>ATC p.M1063I TTC21B_uc002udj.1_RNA NM_024753 NP_079029 Q7Z4L5 TT21B_HUMAN tetratricopeptide repeat domain 21B 1063 cilium axoneme|cytoplasm|cytoskeleton binding ovary(2)|pancreas(2)|breast(1) 5 AGATCTCTATCATATTATAAA 0.388 NaN 0 0 0 1 0 14 35 SCN9A 6335 broad.mit.edu 37 2 167159651 167159651 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:167159651C>T uc010fpl.2 - 7 1191 c.850G>A c.(850-852)GAA>AAA p.E284K SCN9A_uc002udr.1_Missense_Mutation_p.E155K|SCN9A_uc002uds.1_Missense_Mutation_p.E155K|SCN9A_uc002udt.1_Missense_Mutation_p.E155K NM_002977 NP_002968 Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha 284 I. voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|central_nervous_system(5)|skin(2) 13 Lamotrigine(DB00555)|Lidocaine(DB00281) TCTAATGTTTCATTATTTTCA 0.343 NaN 0 0 0 1 0 6 17 KLHL23 151230 broad.mit.edu 37 2 170606109 170606109 + Missense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:170606109G>T uc002ufh.1 + 6 1882 c.1544G>T c.(1543-1545)GGA>GTA p.G515V KLHL23_uc002ufi.1_Missense_Mutation_p.G515V|uc002ufj.3_5'Flank NM_144711 NP_653312 Q8NBE8 KLH23_HUMAN kelch-like 23 515 Kelch 6. 0 GTCACTGGAGGATACTCCTAC 0.448 NaN 1 0 7.87624e-14 1 8.28229e-14 23 76 GORASP2 26003 broad.mit.edu 37 2 171806117 171806117 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:171806117C>G uc002ugk.2 + 3 353 c.213C>G c.(211-213)ATC>ATG p.I71M GORASP2_uc002ugj.2_Missense_Mutation_p.I3M|GORASP2_uc010zdl.1_Missense_Mutation_p.I83M|GORASP2_uc010zdm.1_Missense_Mutation_p.I27M|GORASP2_uc002ugl.2_Missense_Mutation_p.I3M NM_015530 NP_056345 Q9H8Y8 GORS2_HUMAN golgi reassembly stacking protein 2 71 PDZ. Golgi membrane breast(1)|central_nervous_system(1) 2 AGATGCTTATCTATAGCAGCA 0.438 NaN 0 0 0 1 0 31 93 HAT1 8520 broad.mit.edu 37 2 172803292 172803292 + Silent SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:172803292C>G uc002uhi.2 + 3 253 c.177C>G c.(175-177)CTC>CTG p.L59L HAT1_uc010fqi.2_5'UTR|HAT1_uc002uhj.2_Intron NM_003642 NP_003633 O14929 HAT1_HUMAN histone acetyltransferase 1 59 chromatin silencing at telomere|DNA packaging cytoplasm|nuclear matrix|nucleoplasm histone acetyltransferase activity|protein binding large_intestine(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.216) CCCATCAACTCTTTGGGGATG 0.264 NaN 0 0 0 1 0 16 37 ZAK 51776 broad.mit.edu 37 2 174131031 174131031 + Silent SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:174131031C>G uc002uhz.2 + 20 2156 c.1956C>G c.(1954-1956)CTC>CTG p.L652L uc002uib.2_Intron NM_016653 NP_057737 Q9NYL2 MLTK_HUMAN MLK-related kinase isoform 1 652 activation of JUN kinase activity|activation of MAPKK activity|cell cycle arrest|cell death|cell differentiation|cell proliferation|DNA damage checkpoint|positive regulation of apoptosis|response to radiation cytoplasm|nucleus ATP binding|identical protein binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding lung(3)|stomach(1)|ovary(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.176) CCCTACATCTCAACTCTAGGG 0.468 NaN 0 0 0 1 0 17 74 CHN1 1123 broad.mit.edu 37 2 175673765 175673765 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:175673765C>T uc002uji.2 - 11 1500 c.970G>A c.(970-972)GAG>AAG p.E324K CHN1_uc010zeq.1_Missense_Mutation_p.E298K|CHN1_uc002ujj.2_Missense_Mutation_p.E99K|CHN1_uc002ujg.2_Missense_Mutation_p.E199K NM_001822 NP_001813 P15882 CHIN_HUMAN chimerin (chimaerin) 1 isoform a 324 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.226) TCTGCCTTCTCACCATCTTTT 0.318 NaN T TAF15 extraskeletal myxoid chondrosarcoma 0 0 0 1 0 9 32 TTN 7273 broad.mit.edu 37 2 179399910 179399910 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:179399910G>A uc010zfg.1 - 307 93952 c.93728C>T c.(93727-93729)TCA>TTA p.S31243L uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S24938L|TTN_uc010zfi.1_Missense_Mutation_p.S24871L|TTN_uc010zfj.1_Missense_Mutation_p.S24746L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 32170 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) TTCCTTGGTTGAAGAGTGAGA 0.408 NaN 0 0 0 1 0 18 59 TTN 7273 broad.mit.edu 37 2 179478785 179478785 + Nonsense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:179478785G>A uc010zfg.1 - 211 41859 c.41635C>T c.(41635-41637)CAG>TAG p.Q13879* uc002ump.1_RNA|TTN_uc010zfh.1_Nonsense_Mutation_p.Q7574*|TTN_uc010zfi.1_Nonsense_Mutation_p.Q7507*|TTN_uc010zfj.1_Nonsense_Mutation_p.Q7382* NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 14806 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) TTACCAAACTGATATTTGGCT 0.343 NaN 0 0 0 1 0 7 19 TTN 7273 broad.mit.edu 37 2 179640629 179640629 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:179640629C>T uc010zfg.1 - 28 6186 c.5962G>A c.(5962-5964)GAA>AAA p.E1988K TTN_uc010zfh.1_Missense_Mutation_p.E1942K|TTN_uc010zfi.1_Missense_Mutation_p.E1942K|TTN_uc010zfj.1_Missense_Mutation_p.E1942K|TTN_uc002unb.2_Missense_Mutation_p.E1988K|uc002unc.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 1988 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) GGCACTTTTTCATGGGTAATT 0.443 NaN 0 0 0 1 0 41 149 ZNF385B 151126 broad.mit.edu 37 2 180348114 180348114 + Silent SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:180348114G>C uc002unn.3 - 6 1159 c.555C>G c.(553-555)GTC>GTG p.V185V ZNF385B_uc002unj.2_Silent_p.V83V|ZNF385B_uc002unk.2_RNA|ZNF385B_uc002unl.2_Silent_p.V82V|ZNF385B_uc002unm.2_Silent_p.V109V NM_152520 NP_689733 Q569K4 Z385B_HUMAN zinc finger protein 385B isoform 1 185 Matrin-type 2. nucleus nucleic acid binding|zinc ion binding ovary(1) 1 Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201) CTAGTGCTTTGACCTTCTTGG 0.458 NaN 0 0 0 1 0 10 66 STAT1 6772 broad.mit.edu 37 2 191854376 191854376 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:191854376C>T uc002usj.2 - 12 1450 c.1062G>A c.(1060-1062)CTG>CTA p.L354L STAT1_uc010fse.1_Silent_p.L354L|STAT1_uc002usk.2_Silent_p.L354L|STAT1_uc002usl.2_Silent_p.L356L|STAT1_uc010fsf.1_Silent_p.L166L NM_007315 NP_009330 P42224 STAT1_HUMAN signal transducer and activator of transcription 354 activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein cytosol|nucleolus|nucleoplasm calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity lung(3)|breast(3)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1) 10 OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141) Fludarabine(DB01073) AATTATAATTCAGCTCTTGCA 0.249 NaN 0 0 0 1 0 4 5 HECW2 57520 broad.mit.edu 37 2 197157303 197157303 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:197157303C>T uc002utm.1 - 14 3169 c.2986G>A c.(2986-2988)GAT>AAT p.D996N HECW2_uc002utl.1_Missense_Mutation_p.D640N NM_020760 NP_065811 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin 996 Interaction with TP73.|WW 2. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1) 18 CCCTGGTGATCATGTTTCATT 0.552 NaN 0 0 0 1 0 29 84 HSPD1 3329 broad.mit.edu 37 2 198353941 198353941 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:198353941G>A uc002uui.2 - 9 1137 c.1000C>T c.(1000-1002)CTT>TTT p.L334F HSPD1_uc002uuj.2_Missense_Mutation_p.L332F|HSPD1_uc010zgx.1_Missense_Mutation_p.L325F|HSPD1_uc010fsm.2_Missense_Mutation_p.L145F|HSPD1_uc002uuk.2_Missense_Mutation_p.L334F NM_002156 NP_002147 P10809 CH60_HUMAN chaperonin 334 'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding 0 Epithelial(96;0.225) ACGTCTTCAAGATTCAGGGTC 0.398 NaN 0 0 0 1 0 19 42 NIF3L1 60491 broad.mit.edu 37 2 201760084 201760084 + Nonsense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:201760084C>T uc002uwm.2 + 4 788 c.697C>T c.(697-699)CAG>TAG p.Q233* NIF3L1_uc002uwl.2_Nonsense_Mutation_p.Q206*|NIF3L1_uc002uwn.2_Nonsense_Mutation_p.Q206*|NIF3L1_uc002uwo.2_Nonsense_Mutation_p.Q233*|NIF3L1_uc002uwp.2_Nonsense_Mutation_p.Q233*|NIF3L1_uc002uwq.2_Nonsense_Mutation_p.Q233* NM_001136039 NP_001129511 Q9GZT8 NIF3L_HUMAN NIF3 NGG1 interacting factor 3-like 1 isoform 1 233 positive regulation of transcription, DNA-dependent transcription factor binding skin(1) 1 ACAACTTTATCAGAAGACGGA 0.328 NaN 0 0 0 1 0 17 57 NIF3L1 60491 broad.mit.edu 37 2 201768234 201768234 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:201768234G>A uc002uwm.2 + 7 1058 c.967G>A c.(967-969)GAT>AAT p.D323N NIF3L1_uc002uwl.2_Missense_Mutation_p.D296N|NIF3L1_uc002uwn.2_Missense_Mutation_p.D296N|NIF3L1_uc002uwo.2_Missense_Mutation_p.D323N|NIF3L1_uc002uwp.2_Missense_Mutation_p.D323N|NIF3L1_uc002uwq.2_Missense_Mutation_p.M276I NM_001136039 NP_001129511 Q9GZT8 NIF3L_HUMAN NIF3 NGG1 interacting factor 3-like 1 isoform 1 323 positive regulation of transcription, DNA-dependent transcription factor binding skin(1) 1 GTCCCATCATGATACTTTGGA 0.408 NaN 0 0 0 1 0 23 68 CASP8 841 broad.mit.edu 37 2 202139648 202139648 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:202139648C>G uc002uxr.1 + 7 841 c.632C>G c.(631-633)TCT>TGT p.S211C CASP8_uc002uxo.1_Intron|CASP8_uc002uxp.1_Missense_Mutation_p.S228C|CASP8_uc002uxq.1_Missense_Mutation_p.S196C|CASP8_uc002uxt.1_Missense_Mutation_p.S270C|CASP8_uc002uxu.1_RNA|CASP8_uc002uxv.1_Missense_Mutation_p.S196C|CASP8_uc002uxw.1_Missense_Mutation_p.S196C|CASP8_uc002uxy.1_Missense_Mutation_p.S211C|CASP8_uc002uxx.1_Missense_Mutation_p.S196C|CASP8_uc010ftf.2_Intron|CASP8_uc010fte.1_Intron NM_033355 NP_203519 Q14790 CASP8_HUMAN caspase 8 isoform B precursor 211 activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding|protein binding upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1) 5 ATCTCGGACTCTCCAAGAGAA 0.388 NaN HNSCC(4;0.00038) 0 0 0 1 0 11 27 ALS2CR11 151254 broad.mit.edu 37 2 202430471 202430471 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:202430471G>C uc002uye.2 - 9 1006 c.958C>G c.(958-960)CAG>GAG p.Q320E ALS2CR11_uc002uyf.2_Missense_Mutation_p.Q320E|ALS2CR11_uc010fti.2_Missense_Mutation_p.Q320E NM_152525 NP_689738 Q53TS8 AL2SA_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 320 large_intestine(1)|ovary(1)|skin(1) 3 GGTTGTTGCTGAAGTTTTTCA 0.358 NaN 0 0 0 1 0 4 12 ALS2CR8 79800 broad.mit.edu 37 2 203847053 203847053 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:203847053G>C uc002uzo.2 + 15 2228 c.1948G>C c.(1948-1950)GAA>CAA p.E650Q ALS2CR8_uc010zia.1_Missense_Mutation_p.E574Q|ALS2CR8_uc010zib.1_Missense_Mutation_p.E574Q|ALS2CR8_uc010zic.1_Missense_Mutation_p.E562Q|ALS2CR8_uc002uzp.2_Missense_Mutation_p.E650Q NM_001104586 NP_001098056 Q8N187 AL2S8_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 650 large_intestine(1)|ovary(1) 2 CGAGCTGGTAGAAGTTGGAGA 0.428 NaN 0 0 0 1 0 10 42 NBEAL1 65065 broad.mit.edu 37 2 204002904 204002904 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:204002904G>C uc002uzt.3 + 29 4831 c.4498G>C c.(4498-4500)GAA>CAA p.E1500Q NBEAL1_uc002uzs.3_Missense_Mutation_p.E210Q NM_001114132 NP_001107604 Q6ZS30 NBEL1_HUMAN neurobeachin-like 1 isoform 3 1500 binding ovary(1)|skin(1) 2 AAAGATGTTAGAATGGGCAAT 0.358 NaN 0 0 0 1 0 12 32 RAPH1 65059 broad.mit.edu 37 2 204354725 204354725 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:204354725G>A uc002vad.2 - 4 539 c.314C>T c.(313-315)TCA>TTA p.S105L RAPH1_uc002vae.2_Missense_Mutation_p.S105L|RAPH1_uc002vaf.2_Missense_Mutation_p.S105L NM_213589 NP_998754 Q70E73 RAPH1_HUMAN Ras association and pleckstrin homology domains 105 cell-matrix adhesion|signal transduction cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane ovary(3)|breast(3)|central_nervous_system(2)|lung(1)|skin(1) 10 ACTGTTTCCTGAACCAATGCT 0.443 NaN 0 0 0 1 0 32 120 RAPH1 65059 broad.mit.edu 37 2 204354805 204354805 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:204354805C>T uc002vad.2 - 4 459 c.234G>A c.(232-234)CTG>CTA p.L78L RAPH1_uc002vae.2_Silent_p.L78L|RAPH1_uc002vaf.2_Silent_p.L78L NM_213589 NP_998754 Q70E73 RAPH1_HUMAN Ras association and pleckstrin homology domains 78 cell-matrix adhesion|signal transduction cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane ovary(3)|breast(3)|central_nervous_system(2)|lung(1)|skin(1) 10 CTCCCTGATTCAGAGCTTCTG 0.378 NaN 0 0 0 1 0 17 87 PARD3B 117583 broad.mit.edu 37 2 206166207 206166207 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:206166207C>T uc002var.1 + 18 2619 c.2412C>T c.(2410-2412)AGC>AGT p.S804S PARD3B_uc010fub.1_Silent_p.S804S|PARD3B_uc002vao.1_Silent_p.S804S|PARD3B_uc002vap.1_Silent_p.S742S|PARD3B_uc002vaq.1_Silent_p.S735S NM_152526 NP_689739 Q8TEW8 PAR3L_HUMAN par-3 partitioning defective 3 homolog B isoform 804 cell cycle|cell division endomembrane system|tight junction skin(2)|ovary(1)|breast(1) 4 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) CTGATAAGAGCTCTCACTCTG 0.438 NaN 0 0 0 1 0 31 82 INO80D 54891 broad.mit.edu 37 2 206882459 206882459 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:206882459G>A uc002vaz.3 - 8 1892 c.1487C>T c.(1486-1488)CCA>CTA p.P496L NM_017759 NP_060229 Q53TQ3 IN80D_HUMAN INO80 complex subunit D 496 DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(1) 1 GTCAAAAACTGGCACAGAGCA 0.363 NaN 0 0 0 1 0 11 32 ZDBF2 57683 broad.mit.edu 37 2 207169625 207169625 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:207169625C>G uc002vbp.2 + 5 623 c.373C>G c.(373-375)CAG>GAG p.Q125E NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 125 nucleic acid binding|zinc ion binding ovary(3) 3 TCATAAATCTCAGGAAGGCAC 0.468 NaN 0 0 0 1 0 9 27 DYTN 391475 broad.mit.edu 37 2 207559580 207559580 + Silent SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:207559580G>C uc002vbr.1 - 8 858 c.741C>G c.(739-741)CTC>CTG p.L247L NM_001093730 NP_001087199 A2CJ06 DYTN_HUMAN dystrotelin 247 ZZ-type. plasma membrane zinc ion binding ovary(1)|central_nervous_system(1) 2 LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153) TGTCAAAGTTGAGACACTTCA 0.393 NaN 0 0 0 1 0 18 47 PIKFYVE 200576 broad.mit.edu 37 2 209203277 209203277 + Nonsense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:209203277C>T uc002vcz.2 + 29 4815 c.4657C>T c.(4657-4659)CAG>TAG p.Q1553* NM_015040 NP_055855 Q9Y2I7 FYV1_HUMAN phosphatidylinositol-3-phosphate 5-kinase type 1553 cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1) 10 TCCAGGACTTCAGAATGGAGA 0.348 NaN 0 0 0 1 0 8 35 CPS1 1373 broad.mit.edu 37 2 211476905 211476905 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:211476905C>G uc002vee.3 + 20 2588 c.2456C>G c.(2455-2457)TCT>TGT p.S819C CPS1_uc010fur.2_Missense_Mutation_p.S825C|CPS1_uc010fus.2_Missense_Mutation_p.S368C NM_001875 NP_001866 P31327 CPSM_HUMAN carbamoyl-phosphate synthetase 1 isoform b 819 carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity ovary(8)|central_nervous_system(3)|breast(1)|skin(1) 13 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) TGCCACCCATCTATAGAAGGT 0.413 NaN 0 0 0 1 0 34 89 CPS1 1373 broad.mit.edu 37 2 211513244 211513244 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:211513244G>C uc002vee.3 + 27 3516 c.3384G>C c.(3382-3384)TTG>TTC p.L1128F CPS1_uc010fur.2_Missense_Mutation_p.L1134F|CPS1_uc010fus.2_Missense_Mutation_p.L677F NM_001875 NP_001866 P31327 CPSM_HUMAN carbamoyl-phosphate synthetase 1 isoform b 1128 ATP-grasp 2. carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity ovary(8)|central_nervous_system(3)|breast(1)|skin(1) 13 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) CCTGCTTGTTGAGGCCTTCCT 0.333 NaN 0 0 0 1 0 21 79 ABCA12 26154 broad.mit.edu 37 2 215875150 215875150 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:215875150C>G uc002vew.2 - 18 2597 c.2377G>C c.(2377-2379)GCT>CCT p.A793P ABCA12_uc002vev.2_Missense_Mutation_p.A475P|ABCA12_uc010zjn.1_5'UTR NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A, member 12 793 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 11 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) ACAGGTCCAGCGGGCATGTTA 0.373 NaN 0 0 0 1 0 10 27 TNS1 7145 broad.mit.edu 37 2 218674590 218674590 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:218674590G>C uc002vgt.2 - 30 5315 c.4917C>G c.(4915-4917)TTC>TTG p.F1639L TNS1_uc002vgr.2_Missense_Mutation_p.F1625L|TNS1_uc002vgs.2_Missense_Mutation_p.F1618L|TNS1_uc002vgq.2_Missense_Mutation_p.F139L NM_022648 NP_072174 Q9HBL0 TENS1_HUMAN tensin 1639 cytoplasm|cytoskeleton|focal adhesion actin binding ovary(3)|breast(1) 4 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) CAGAGACTTTGAAGTGAACGA 0.552 NaN 0 0 0 1 0 13 43 ARPC2 10109 broad.mit.edu 37 2 219114098 219114098 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:219114098C>T uc002vhd.2 + 9 800 c.688C>T c.(688-690)CGT>TGT p.R230C ARPC2_uc002vhe.2_Missense_Mutation_p.R230C|ARPC2_uc002vhf.2_Missense_Mutation_p.R116C NM_152862 NP_690601 O15144 ARPC2_HUMAN actin related protein 2/3 complex subunit 2 230 cellular component movement Arp2/3 protein complex|cell projection|Golgi apparatus actin binding|structural constituent of cytoskeleton ovary(1) 1 Renal(207;0.0474) Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103) GCTGTTCCCTCGTCACACCAA 0.542 NaN 0 0 0 1 0 11 31 NHEJ1 79840 broad.mit.edu 37 2 220022967 220022967 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:220022967C>T uc002vjp.3 - 2 264 c.118G>A c.(118-120)GAT>AAT p.D40N NHEJ1_uc002vjq.3_RNA NM_024782 NP_079058 Q9H9Q4 NHEJ1_HUMAN nonhomologous end-joining factor 1 40 B cell differentiation|central nervous system development|DNA recombination|double-strand break repair via nonhomologous end joining|positive regulation of ligase activity|response to ionizing radiation|T cell differentiation nonhomologous end joining complex|nucleus DNA binding|identical protein binding lung(1) 1 Renal(207;0.0915) Epithelial(149;2.15e-06)|all cancers(144;0.000339)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0112) TGTTGAAGATCTGAAACCAAC 0.527 NaN Direct_reversal_of_damage|NHEJ 0 0 0 1 0 31 121 SLC23A3 151295 broad.mit.edu 37 2 220032963 220032963 + Nonsense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:220032963G>C uc010zks.1 - 6 863 c.752C>G c.(751-753)TCA>TGA p.S251* NHEJ1_uc002vjq.3_RNA|SLC23A3_uc010zkr.1_Nonsense_Mutation_p.S259*|SLC23A3_uc010fwb.2_Missense_Mutation_p.Q241E|SLC23A3_uc002vjs.1_Missense_Mutation_p.F103L|SLC23A3_uc002vjt.1_Missense_Mutation_p.F110L NM_001144889 NP_001138361 Q6PIS1 S23A3_HUMAN solute carrier family 23 (nucleobase 251 Extracellular (Potential). transmembrane transport integral to membrane protein binding|transporter activity 0 Renal(207;0.0474) Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TGATGACGTTGAAGCTCGCCT 0.577 NaN 0 0 0 1 0 11 32 FAM134A 79137 broad.mit.edu 37 2 220046485 220046485 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:220046485G>A uc002vjw.3 + 8 1139 c.1003G>A c.(1003-1005)GAT>AAT p.D335N FAM134A_uc010fwc.2_Missense_Mutation_p.D128N|FAM134A_uc002vjx.2_Missense_Mutation_p.D128N NM_024293 NP_077269 Q8NC44 F134A_HUMAN hypothetical protein LOC79137 335 endoplasmic reticulum|integral to membrane ovary(1)|central_nervous_system(1) 2 Renal(207;0.0915) Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GCAGCTGACTGATGTCTCCGA 0.577 NaN 0 0 0 1 0 21 88 ATG9A 79065 broad.mit.edu 37 2 220085587 220085587 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:220085587G>C uc002vke.1 - 15 2582 c.2396C>G c.(2395-2397)TCT>TGT p.S799C ABCB6_uc002vkc.1_5'Flank|ABCB6_uc010fwe.1_5'Flank|ABCB6_uc010zku.1_5'Flank|ATG9A_uc002vkd.1_RNA|ATG9A_uc002vkf.1_Missense_Mutation_p.S799C NM_001077198 NP_001070666 Q7Z3C6 ATG9A_HUMAN APG9 autophagy 9-like 1 799 Cytoplasmic (By similarity). autophagic vacuole assembly|protein transport autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane skin(1) 1 Renal(207;0.0474) Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGAGAAATGAGAGGGAACCCT 0.577 NaN 0 0 0 1 0 19 64 STK11IP 114790 broad.mit.edu 37 2 220474164 220474164 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:220474164G>A uc002vml.2 + 17 2082 c.2039G>A c.(2038-2040)AGA>AAA p.R680K STK11IP_uc010zll.1_3'UTR|STK11IP_uc002vmm.1_Missense_Mutation_p.R669K NM_052902 NP_443134 Q8N1F8 S11IP_HUMAN LKB1 interacting protein 680 protein localization cytoplasm protein kinase binding ovary(1) 1 Renal(207;0.0183) Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CTGCTGGGTAGATTCCAGTGT 0.582 NaN 0 0 0 1 0 5 20 SLC4A3 6508 broad.mit.edu 37 2 220502408 220502408 + Missense_Mutation SNP G G A rs140581019 byFrequency TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:220502408G>A uc002vmp.3 + 17 2910 c.2641G>A c.(2641-2643)GAG>AAG p.E881K SLC4A3_uc002vmo.3_Missense_Mutation_p.E908K|SLC4A3_uc010fwm.2_Missense_Mutation_p.E431K|SLC4A3_uc010fwn.1_Missense_Mutation_p.E390K NM_005070 NP_005061 P48751 B3A3_HUMAN solute carrier family 4, anion exchanger, member 881 Membrane (anion exchange). bicarbonate transport integral to plasma membrane|membrane fraction inorganic anion exchanger activity ovary(2)|upper_aerodigestive_tract(1)|breast(1)|skin(1) 5 Renal(207;0.0183) Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GCCCCCCACCGAGGGCCCCCC 0.647 NaN 0 0 0 1 0 23 77 CCDC140 151278 broad.mit.edu 37 2 223169063 223169063 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:223169063G>A uc002vnb.1 + 2 826 c.442G>A c.(442-444)GAG>AAG p.E148K NM_153038 NP_694583 Q96MF4 CC140_HUMAN coiled-coil domain containing 140 148 Potential. 0 Renal(207;0.0376) Epithelial(121;4.03e-10)|all cancers(144;1.8e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) aaagaagaaagagagaaagag 0.403 NaN 0 0 0 1 0 5 26 DOCK10 55619 broad.mit.edu 37 2 225666692 225666692 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:225666692C>T uc010fwz.1 - 40 4573 c.4334G>A c.(4333-4335)CGA>CAA p.R1445Q DOCK10_uc002vob.2_Missense_Mutation_p.R1439Q|DOCK10_uc002voa.2_Missense_Mutation_p.R101Q|DOCK10_uc002voc.2_Missense_Mutation_p.R299Q NM_014689 NP_055504 Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 1445 GTP binding ovary(2) 2 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) ATTTTTGCCTCGAATTATAGG 0.368 NaN 0 0 0 1 0 17 62 COL4A4 1286 broad.mit.edu 37 2 227898175 227898175 + Silent SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:227898175C>G uc010zlt.1 - 38 4182 c.3528G>C c.(3526-3528)CTG>CTC p.L1176L NM_000092 NP_000083 P53420 CO4A4_HUMAN alpha 4 type IV collagen precursor 1176 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1) 11 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) GCAAGCCGTTCAGGCCAGGTG 0.522 NaN OREG0015250 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 1 0 15 48 TRIP12 9320 broad.mit.edu 37 2 230723619 230723619 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:230723619G>A uc002vpw.1 - 3 879 c.770C>T c.(769-771)TCT>TTT p.S257F TRIP12_uc002vpx.1_Missense_Mutation_p.S299F|TRIP12_uc002vpy.1_Intron|TRIP12_uc010zlz.1_RNA|TRIP12_uc010fxh.1_Missense_Mutation_p.S257F NM_004238 NP_004229 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 257 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) AAATTTTGAAGAGCCACCAGT 0.473 NaN 0 0 0 1 0 21 67 SP100 6672 broad.mit.edu 37 2 231379918 231379918 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:231379918G>A uc002vqt.2 + 25 2344 c.2203G>A c.(2203-2205)GAA>AAA p.E735K SP100_uc002vqu.1_Intron|SP100_uc010fxp.1_Intron NM_003113 NP_003104 P23497 SP100_HUMAN nuclear antigen Sp100 isoform 2 735 HMG box 1. DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon cytoplasm|nuclear periphery|nucleolus|PML body chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding ovary(4)|central_nervous_system(1) 5 Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) AGGAAAATTTGAAGATATGGC 0.388 NaN 0 0 0 1 0 23 73 ARMC9 80210 broad.mit.edu 37 2 232100023 232100023 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:232100023G>A uc002vrq.3 + 8 821 c.709G>A c.(709-711)GAC>AAC p.D237N ARMC9_uc002vrp.3_Missense_Mutation_p.D237N NM_025139 NP_079415 Q7Z3E5 ARMC9_HUMAN armadillo repeat containing 9 237 binding ovary(1) 1 Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205) Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189) GATCCAGGCCGACTACCACAA 0.488 NaN 0 0 0 1 0 11 40 ARMC9 80210 broad.mit.edu 37 2 232143143 232143143 + Nonsense_Mutation SNP C C A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:232143143C>A uc002vrq.3 + 16 1635 c.1523C>A c.(1522-1524)TCG>TAG p.S508* ARMC9_uc002vrp.3_Nonsense_Mutation_p.S508*|ARMC9_uc002vrr.1_RNA NM_025139 NP_079415 Q7Z3E5 ARMC9_HUMAN armadillo repeat containing 9 508 binding ovary(1) 1 Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205) Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189) AAAGTCCTTTCGGATCTTCTT 0.507 NaN 1 0 2.95478e-19 1 3.13632e-19 40 106 DGKD 8527 broad.mit.edu 37 2 234343511 234343511 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:234343511C>G uc002vui.1 + 5 562 c.550C>G c.(550-552)CTG>GTG p.L184V DGKD_uc002vuj.1_Missense_Mutation_p.L140V|DGKD_uc010fyh.1_Missense_Mutation_p.L51V|DGKD_uc002vuk.1_Missense_Mutation_p.L51V NM_152879 NP_690618 Q16760 DGKD_HUMAN diacylglycerol kinase, delta 130kDa isoform 2 184 Phorbol-ester/DAG-type 1. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane|plasma membrane ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity central_nervous_system(2)|pancreas(1)|lung(1)|skin(1) 5 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538) Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655) Phosphatidylserine(DB00144) CCGTGAGGCTCTGTCTGGGGT 0.567 NaN 0 0 0 1 0 48 163 UGT1A5 54579 broad.mit.edu 37 2 234621763 234621763 + Silent SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:234621763C>G uc002vuw.2 + 1 126 c.126C>G c.(124-126)CTC>CTG p.L42L UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Silent_p.L42L NM_019078 NP_061951 P35504 UD15_HUMAN UDP glycosyltransferase 1 family, polypeptide A5 42 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(1) 1 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645) GCCACTGGCTCAGCATGCGGG 0.602 NaN 0 0 0 1 0 17 72 ARL4C 10123 broad.mit.edu 37 2 235404739 235404739 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:235404739G>A uc002vvn.2 - 1 955 c.492C>T c.(490-492)ATC>ATT p.I164I ARL4C_uc002vvm.3_Silent_p.I164I NM_005737 NP_005728 P56559 ARL4C_HUMAN ADP-ribosylation factor-like 4C 164 endocytic recycling|small GTPase mediated signal transduction cytoplasm|filopodium|nucleus|plasma membrane alpha-tubulin binding|GTP binding|GTPase activity skin(1) 1 Breast(86;0.000596)|Renal(207;0.00339)|all_lung(227;0.00354)|all_hematologic(139;0.0494)|Lung NSC(271;0.0496)|Lung SC(224;0.164)|all_neural(83;0.173) Epithelial(121;2.6e-19)|BRCA - Breast invasive adenocarcinoma(100;0.000296)|Lung(119;0.002)|LUSC - Lung squamous cell carcinoma(224;0.0048) GGCCCTCGCCGATGATGGCGC 0.617 NaN 0 0 0 1 0 18 57 SH3BP4 23677 broad.mit.edu 37 2 235962340 235962340 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:235962340G>A uc002vvp.2 + 6 3165 c.2772G>A c.(2770-2772)ATG>ATA p.M924I SH3BP4_uc010fym.2_Missense_Mutation_p.M906I|SH3BP4_uc002vvq.2_Missense_Mutation_p.M924I NM_014521 NP_055336 Q9P0V3 SH3B4_HUMAN SH3-domain binding protein 4 924 endocytosis clathrin-coated vesicle|coated pit|nucleus protein binding skin(3)|ovary(1) 4 Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419) Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237) TGGACAAGATGAAAAACCCCA 0.582 NaN 0 0 0 1 0 49 153 OR6B3 150681 broad.mit.edu 37 2 240984886 240984886 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:240984886G>C uc010zoe.1 - 1 604 c.604C>G c.(604-606)CTG>GTG p.L202V PRR21_uc010zod.1_5'Flank NM_173351 NP_775486 Q8NGW1 OR6B3_HUMAN olfactory receptor, family 6, subfamily B, 202 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238) Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141) ATGAAGGCCAGAATGAAATCC 0.577 NaN 0 0 0 1 0 15 71 ATG4B 23192 broad.mit.edu 37 2 242594013 242594013 + Silent SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:242594013C>G uc002wbv.2 + 5 439 c.336C>G c.(334-336)CTC>CTG p.L112L ATG4B_uc002wbu.2_Silent_p.L38L|ATG4B_uc002wbw.2_Silent_p.L112L|ATG4B_uc010zox.1_Silent_p.L98L|ATG4B_uc010zoy.1_Silent_p.L38L|ATG4B_uc010fzp.2_Silent_p.L112L|ATG4B_uc010zoz.1_Silent_p.L38L NM_013325 NP_037457 Q9Y4P1 ATG4B_HUMAN APG4 autophagy 4 homolog B isoform a 112 autophagic vacuole assembly|protein transport|proteolysis cytoplasm cysteine-type peptidase activity|protein binding 0 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848) TCAGCGTCCTCAACGCATTCA 0.502 NaN 0 0 0 1 0 5 10 UBOX5 22888 broad.mit.edu 37 20 3102035 3102035 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr20:3102035G>A uc002whw.2 - 3 1420 c.1250C>T c.(1249-1251)TCG>TTG p.S417L uc002whv.1_Intron|UBOX5_uc002whx.2_Missense_Mutation_p.S417L|UBOX5_uc002why.1_Missense_Mutation_p.S417L NM_014948 NP_055763 O94941 RNF37_HUMAN U-box domain containing 5 isoform a 417 nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding ovary(1)|skin(1) 2 ATTACCTGTCGAGCAGTCCAT 0.527 NaN 0 0 0 1 0 12 55 CENPB 1059 broad.mit.edu 37 20 3765738 3765738 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr20:3765738C>T uc002wjk.2 - 1 1600 c.1393G>A c.(1393-1395)GAG>AAG p.E465K CDC25B_uc010zqk.1_5'Flank|CDC25B_uc010zql.1_5'Flank|CDC25B_uc010zqm.1_5'Flank NM_001810 NP_001801 P07199 CENPB_HUMAN centromere protein B 465 Glu-rich (acidic). regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus chromatin binding|satellite DNA binding 0 GAGGAGCTCTCCTCATCTTCC 0.418 NaN 0 0 0 1 0 17 59 TMX4 56255 broad.mit.edu 37 20 7964486 7964486 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr20:7964486C>G uc002wmx.1 - 7 767 c.634G>C c.(634-636)GAA>CAA p.E212Q NM_021156 NP_066979 Q9H1E5 TMX4_HUMAN thioredoxin-related transmembrane protein 4 212 cell redox homeostasis|electron transport chain|transport integral to membrane 0 TAGAAACATTCTGATATTACC 0.388 NaN 0 0 0 1 0 12 43 NKX2-2 4821 broad.mit.edu 37 20 21492922 21492922 + Nonsense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr20:21492922G>T uc002wsi.2 - 2 818 c.461C>A c.(460-462)TCG>TAG p.S154* NM_002509 NP_002500 O95096 NKX22_HUMAN NK2 transcription factor related, locus 2 154 Homeobox. brain development|positive regulation of sequence-specific DNA binding transcription factor activity nucleus chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity pancreas(1)|skin(1) 2 CTCGGGCGCCGACAGGTACCG 0.672 NaN 1 0 1.12685e-05 1 1.14925e-05 9 33 FOXA2 3170 broad.mit.edu 37 20 22562719 22562719 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr20:22562719G>A uc002wsn.2 - 3 1333 c.1143C>T c.(1141-1143)CTC>CTT p.L381L FOXA2_uc002wsm.2_Silent_p.L387L NM_153675 NP_710141 Q9Y261 FOXA2_HUMAN forkhead box A2 isoform 2 381 Transactivation domain 2 (By similarity). cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6 cytoplasm|transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding ovary(2)|kidney(1)|central_nervous_system(1) 4 Lung NSC(19;0.188) CCGAGGACATGAGGTTGTTGA 0.552 NaN 0 0 0 1 0 13 33 ASXL1 171023 broad.mit.edu 37 20 31022245 31022245 + Nonsense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr20:31022245C>G uc002wxs.2 + 12 2156 c.1730C>G c.(1729-1731)TCA>TGA p.S577* ASXL1_uc010geb.2_Nonsense_Mutation_p.S468* NM_015338 NP_056153 Q8IXJ9 ASXL1_HUMAN additional sex combs like 1 isoform 1 577 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent PR-DUB complex metal ion binding|protein binding haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1) 248 ATTCAACTTTCACGTATCAAA 0.473 NaN F|N|Mis MDS|CMML 0 0 0 1 0 18 103 GGT7 2686 broad.mit.edu 37 20 33439105 33439105 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr20:33439105C>T uc002xay.2 - 13 1697 c.1654G>A c.(1654-1656)GAG>AAG p.E552K GGT7_uc010gex.2_RNA|GGT7_uc002xaz.1_Missense_Mutation_p.E569K NM_178026 NP_821158 Q9UJ14 GGT7_HUMAN gamma-glutamyltransferase 7 552 Extracellular (Potential). glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity ovary(1) 1 CAGAGCCCCTCCGCGGGTCGG 0.622 NaN 0 0 0 1 0 28 67 GGT7 2686 broad.mit.edu 37 20 33440073 33440073 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr20:33440073G>A uc002xay.2 - 12 1515 c.1472C>T c.(1471-1473)TCC>TTC p.S491F GGT7_uc010gex.2_5'Flank|GGT7_uc002xaz.1_Missense_Mutation_p.S508F NM_178026 NP_821158 Q9UJ14 GGT7_HUMAN gamma-glutamyltransferase 7 491 Extracellular (Potential). glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity ovary(1) 1 CTGGTTCAGGGAGCTGGGGGC 0.637 NaN 0 0 0 1 0 18 46 FAM83C 128876 broad.mit.edu 37 20 33874440 33874440 + Silent SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr20:33874440G>C uc010zux.1 - 4 2260 c.2142C>G c.(2140-2142)GTC>GTG p.V714V EIF6_uc002xbv.1_5'Flank|EIF6_uc002xbx.1_5'Flank|EIF6_uc002xbz.1_5'Flank|EIF6_uc002xby.1_5'Flank|FAM83C_uc002xcb.1_Silent_p.V369V NM_178468 NP_848563 Q9BQN1 FA83C_HUMAN hypothetical protein LOC128876 714 ovary(2) 2 BRCA - Breast invasive adenocarcinoma(18;0.00252) TCTCATCCCTGACCAGGTCAC 0.552 NaN 0 0 0 1 0 39 102 CEP250 11190 broad.mit.edu 37 20 34065849 34065849 + Nonsense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr20:34065849G>T uc002xcm.2 + 18 2688 c.2017G>T c.(2017-2019)GAG>TAG p.E673* CEP250_uc010zve.1_Nonsense_Mutation_p.E41*|CEP250_uc010zvd.1_RNA NM_007186 NP_009117 Q9BV73 CP250_HUMAN centrosomal protein 2 673 Gln/Glu-rich.|Potential. centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding ovary(4)|central_nervous_system(1) 5 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) GAAAGCTGAGGAGGCTGGGGC 0.527 NaN 1 0 0.000602214 1 0.000609414 5 33 CEP250 11190 broad.mit.edu 37 20 34065861 34065861 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr20:34065861G>C uc002xcm.2 + 18 2700 c.2029G>C c.(2029-2031)GAG>CAG p.E677Q CEP250_uc010zve.1_Missense_Mutation_p.E45Q|CEP250_uc010zvd.1_RNA NM_007186 NP_009117 Q9BV73 CP250_HUMAN centrosomal protein 2 677 Gln/Glu-rich.|Potential. centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding ovary(4)|central_nervous_system(1) 5 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) GGCTGGGGCTGAGCTGCAGGC 0.532 NaN 0 0 0 1 0 5 40 NFS1 9054 broad.mit.edu 37 20 34261595 34261595 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr20:34261595G>C uc002xdw.1 - 11 1212 c.1148C>G c.(1147-1149)TCT>TGT p.S383C CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_RNA|CPNE1_uc002xdp.1_RNA|NFS1_uc002xdt.1_Missense_Mutation_p.S323C|NFS1_uc002xdu.1_Missense_Mutation_p.S323C|NFS1_uc002xdv.1_RNA|NFS1_uc010zvk.1_Missense_Mutation_p.S181C|NFS1_uc010zvl.1_Missense_Mutation_p.S332C NM_021100 NP_066923 Q9Y697 NFS1_HUMAN NFS1 nitrogen fixation 1 precursor 383 cysteine metabolic process|iron incorporation into metallo-sulfur cluster|Mo-molybdopterin cofactor biosynthetic process|protein complex assembly|water-soluble vitamin metabolic process cytosol|mitochondrial matrix|nucleus cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding ovary(1)|skin(1) 2 Lung NSC(9;0.00608)|all_lung(11;0.00918) BRCA - Breast invasive adenocarcinoma(18;0.0886) L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114) CAGGGATGCAGAGGTGCAGGC 0.493 NaN 0 0 0 1 0 17 57 NFS1 9054 broad.mit.edu 37 20 34262520 34262520 + Nonsense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr20:34262520G>C uc002xdw.1 - 9 1032 c.968C>G c.(967-969)TCA>TGA p.S323* CPNE1_uc002xdn.1_5'Flank|CPNE1_uc002xdo.1_5'Flank|CPNE1_uc002xdp.1_RNA|NFS1_uc002xdt.1_Nonsense_Mutation_p.S263*|NFS1_uc002xdu.1_Nonsense_Mutation_p.S263*|NFS1_uc002xdv.1_RNA|NFS1_uc010zvk.1_Nonsense_Mutation_p.S121*|NFS1_uc010zvl.1_Nonsense_Mutation_p.S272* NM_021100 NP_066923 Q9Y697 NFS1_HUMAN NFS1 nitrogen fixation 1 precursor 323 cysteine metabolic process|iron incorporation into metallo-sulfur cluster|Mo-molybdopterin cofactor biosynthetic process|protein complex assembly|water-soluble vitamin metabolic process cytosol|mitochondrial matrix|nucleus cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding ovary(1)|skin(1) 2 Lung NSC(9;0.00608)|all_lung(11;0.00918) BRCA - Breast invasive adenocarcinoma(18;0.0886) L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114) TGACAACTTTGAGATTCGCTT 0.463 NaN 0 0 0 1 0 13 60 MANBAL 63905 broad.mit.edu 37 20 35929739 35929739 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr20:35929739G>A uc002xgu.2 + 3 285 c.73G>A c.(73-75)GGA>AGA p.G25R MANBAL_uc002xgv.2_Missense_Mutation_p.G25R|MANBAL_uc002xgw.2_RNA|MANBAL_uc010gfx.2_RNA|MANBAL_uc010gfy.2_RNA NM_022077 NP_071360 Q9NQG1 MANBL_HUMAN mannosidase, beta A, lysosomal-like 25 Helical; (Potential). integral to membrane 0 Myeloproliferative disorder(115;0.00878) GCTACGGTACGGACTCTTCCT 0.597 NaN 0 0 0 1 0 24 90 SLC32A1 140679 broad.mit.edu 37 20 37357157 37357157 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr20:37357157C>G uc002xjc.2 + 2 1716 c.1453C>G c.(1453-1455)CTG>GTG p.L485V NM_080552 NP_542119 Q9H598 VIAAT_HUMAN solute carrier family 32, member 1 485 Lumenal, vesicle (Potential). neurotransmitter secretion clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane vesicular hydrogen:amino acid antiporter activity 0 Myeloproliferative disorder(115;0.00878) Glycine(DB00145) CTGGCGCAAGCTGCTGTGGCA 0.652 NaN 0 0 0 1 0 16 42 SFRS6 6431 broad.mit.edu 37 20 42088739 42088739 + Missense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr20:42088739G>T uc010zwg.1 + 4 618 c.448G>T c.(448-450)GTA>TTA p.V150L SFRS6_uc002xki.2_Missense_Mutation_p.V21L|SFRS6_uc002xkk.2_Missense_Mutation_p.V150L NM_006275 NP_006266 Q13247 SRSF6_HUMAN arginine/serine-rich splicing factor 6 150 RRM 2. mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription nucleoplasm nucleotide binding|protein binding|RNA binding 0 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) AAATGAGGGTGTAATTGAGTT 0.428 NaN 1 0 2.27111e-07 1 2.34737e-07 13 61 SFRS6 6431 broad.mit.edu 37 20 42088812 42088812 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr20:42088812G>C uc010zwg.1 + 4 691 c.521G>C c.(520-522)AGA>ACA p.R174T SFRS6_uc002xki.2_Missense_Mutation_p.R45T|SFRS6_uc002xkk.2_Missense_Mutation_p.R174T NM_006275 NP_006266 Q13247 SRSF6_HUMAN arginine/serine-rich splicing factor 6 174 RRM 2. mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription nucleoplasm nucleotide binding|protein binding|RNA binding 0 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) ATAAATGGCAGAAATATTAGG 0.453 NaN 0 0 0 1 0 13 44 TP53TG5 27296 broad.mit.edu 37 20 44003758 44003758 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr20:44003758G>A uc002xny.2 - 4 770 c.689C>T c.(688-690)TCC>TTC p.S230F SYS1_uc002xnw.1_3'UTR|SYS1-DBNDD2_uc002xnx.2_Intron NM_014477 NP_055292 Q9Y2B4 T53G5_HUMAN TP53-target gene 5 protein 230 intracellular signal transduction|negative regulation of cell growth cytoplasm|nucleus central_nervous_system(1) 1 ACGCAGGGTGGAGGATCTGCA 0.597 NaN 0 0 0 1 0 28 79 PCIF1 63935 broad.mit.edu 37 20 44573623 44573623 + Silent SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr20:44573623G>C uc002xqs.2 + 11 1436 c.1122G>C c.(1120-1122)CGG>CGC p.R374R PCIF1_uc002xqt.2_5'UTR|PCIF1_uc002xqu.2_5'Flank NM_022104 NP_071387 Q9H4Z3 PCIF1_HUMAN phosphorylated CTD interacting factor 1 374 nucleus skin(1) 1 ACGTCAAACGGATCCGAGAGA 0.572 NaN 0 0 0 1 0 7 36 PCIF1 63935 broad.mit.edu 37 20 44574946 44574946 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr20:44574946C>T uc002xqs.2 + 14 1850 c.1536C>T c.(1534-1536)TTC>TTT p.F512F PCIF1_uc002xqt.2_Silent_p.F92F|PCIF1_uc002xqu.2_5'Flank NM_022104 NP_071387 Q9H4Z3 PCIF1_HUMAN phosphorylated CTD interacting factor 1 512 nucleus skin(1) 1 TCGAGTGCTTCGCCTCACCCC 0.642 NaN 0 0 0 1 0 55 163 SLC12A5 57468 broad.mit.edu 37 20 44678355 44678355 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr20:44678355G>A uc010zxl.1 + 17 2252 c.2176G>A c.(2176-2178)GGC>AGC p.G726S SLC12A5_uc010zxm.1_RNA|SLC12A5_uc002xrb.2_Missense_Mutation_p.G703S NM_001134771 NP_001128243 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium-chloride 726 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) GGCGGGGAAGGGCCTGACCAT 0.622 NaN 0 0 0 1 0 3 8 ZNF334 55713 broad.mit.edu 37 20 45130355 45130355 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr20:45130355C>T uc002xsc.2 - 5 1807 c.1623G>A c.(1621-1623)GAG>GAA p.E541E ZNF334_uc002xsa.2_Silent_p.E564E|ZNF334_uc002xsb.2_Silent_p.E503E|ZNF334_uc002xsd.2_Silent_p.E503E|ZNF334_uc010ghl.2_Silent_p.E540E NM_018102 NP_060572 Q9HCZ1 ZN334_HUMAN zinc finger protein 334 isoform a 541 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 Myeloproliferative disorder(115;0.0122) CATATGGTCTCTCCCATATAG 0.448 NaN 0 0 0 1 0 40 149 CSE1L 1434 broad.mit.edu 37 20 47706100 47706100 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr20:47706100G>A uc002xty.2 + 19 2132 c.1998G>A c.(1996-1998)GTG>GTA p.V666V CSE1L_uc010zyg.1_Silent_p.V449V|CSE1L_uc010ghx.2_Silent_p.V610V|CSE1L_uc010ghy.2_Silent_p.V287V|CSE1L_uc010zyh.1_Silent_p.V315V NM_001316 NP_001307 P55060 XPO2_HUMAN CSE1 chromosome segregation 1-like protein 666 apoptosis|cell proliferation|intracellular protein transport cytoplasm|nucleus importin-alpha export receptor activity large_intestine(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198) TCTTTCAAGTGATGTCTTTGC 0.413 NaN 0 0 0 1 0 14 67 SALL4 57167 broad.mit.edu 37 20 50418832 50418832 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr20:50418832G>A uc002xwh.3 - 1 217 c.116C>T c.(115-117)GCG>GTG p.A39V SALL4_uc010gii.2_Missense_Mutation_p.A39V|SALL4_uc002xwi.3_Missense_Mutation_p.A39V NM_020436 NP_065169 Q9UJQ4 SALL4_HUMAN sal-like 4 39 transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 CTcccccgccgcgggcgccgc 0.612 NaN 0 0 0 1 0 4 19 STX16 8675 broad.mit.edu 37 20 57245657 57245657 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr20:57245657C>T uc002xzi.2 + 6 1381 c.646C>T c.(646-648)CGG>TGG p.R216W STX16_uc010zzq.1_Missense_Mutation_p.R30W|STX16_uc002xzk.2_Missense_Mutation_p.R199W|STX16_uc002xzm.2_Missense_Mutation_p.R212W|STX16_uc002xzj.2_Missense_Mutation_p.R195W|STX16_uc002xzl.2_Missense_Mutation_p.R30W NM_001001433 NP_001001433 O14662 STX16_HUMAN syntaxin 16 isoform a 216 Cytoplasmic (Potential). intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi Golgi membrane|integral to membrane|microsome|SNARE complex SNAP receptor activity ovary(1) 1 all_lung(29;0.0175) BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05) TCTTTACCATCGGGTACGTGA 0.473 NaN 0 0 0 1 0 20 63 PHACTR3 116154 broad.mit.edu 37 20 58330240 58330240 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr20:58330240C>T uc002yau.2 + 4 829 c.362C>T c.(361-363)GCT>GTT p.A121V PHACTR3_uc002yat.2_Missense_Mutation_p.A118V|PHACTR3_uc010zzw.1_Missense_Mutation_p.A80V|PHACTR3_uc002yav.2_Missense_Mutation_p.A80V|PHACTR3_uc002yaw.2_Missense_Mutation_p.A80V|PHACTR3_uc002yax.2_Missense_Mutation_p.A80V NM_080672 NP_542403 Q96KR7 PHAR3_HUMAN phosphatase and actin regulator 3 isoform 1 121 nuclear matrix actin binding|protein phosphatase inhibitor activity ovary(2)|pancreas(1) 3 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;2.76e-09) CTTGTAGATGCTGAAAGCAAA 0.537 NaN 0 0 0 1 0 13 43 DIDO1 11083 broad.mit.edu 37 20 61524224 61524224 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr20:61524224C>G uc002ydr.1 - 13 3456 c.3192G>C c.(3190-3192)CAG>CAC p.Q1064H DIDO1_uc002yds.1_Missense_Mutation_p.Q1064H|DIDO1_uc002ydt.1_Missense_Mutation_p.Q1064H|DIDO1_uc002ydu.1_Missense_Mutation_p.Q1064H NM_033081 NP_149072 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 isoform c 1064 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(3)|skin(3) 6 Breast(26;5.68e-08) TTGCCACACTCTGCATGTTAA 0.448 NaN 0 0 0 1 0 17 64 EEF1A2 1917 broad.mit.edu 37 20 62127331 62127331 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr20:62127331C>G uc002yfd.1 - 2 303 c.202G>C c.(202-204)GAG>CAG p.E68Q EEF1A2_uc002yfe.1_Missense_Mutation_p.E68Q|EEF1A2_uc010gkg.1_Missense_Mutation_p.E68Q NM_001958 NP_001949 Q05639 EF1A2_HUMAN eukaryotic translation elongation factor 1 alpha 68 nucleus GTP binding|GTPase activity|protein binding|translation elongation factor activity 0 all_cancers(38;9.45e-12) BRCA - Breast invasive adenocarcinoma(10;1.22e-05) ATGCCGCGCTCACGCTCCGCC 0.612 NaN OREG0026129 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 1 0 36 118 STMN3 50861 broad.mit.edu 37 20 62275251 62275251 + Nonsense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr20:62275251G>C uc002yfr.1 - 3 231 c.149C>G c.(148-150)TCA>TGA p.S50* STMN3_uc011abb.1_Nonsense_Mutation_p.S50* NM_015894 NP_056978 Q9NZ72 STMN3_HUMAN SCG10-like-protein 50 cytoplasmic microtubule organization|intracellular signal transduction|negative regulation of Rac protein signal transduction|neuron projection development|regulation of cytoskeleton organization|regulation of Rac GTPase activity cytoplasm protein domain specific binding 0 all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13) Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559) GCTCTGGCCTGAGGCCCGCTT 0.627 NaN 0 0 0 1 0 31 110 CLDN17 26285 broad.mit.edu 37 21 31538639 31538639 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr21:31538639G>C uc011acv.1 - 1 297 c.297C>G c.(295-297)ATC>ATG p.I99M NM_012131 NP_036263 P56750 CLD17_HUMAN claudin 17 99 Helical; (Potential). calcium-independent cell-cell adhesion|tight junction assembly Golgi apparatus|integral to membrane|tight junction identical protein binding|structural molecule activity ovary(2) 2 TCATGCCACAGATGCCAATAA 0.567 NaN 0 0 0 1 0 37 83 C21orf45 54069 broad.mit.edu 37 21 33651219 33651219 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr21:33651219G>C uc002ypi.2 - 1 158 c.107C>G c.(106-108)TCC>TGC p.S36C C21orf45_uc011adn.1_Missense_Mutation_p.S36C NM_018944 NP_061817 Q9NYP9 MS18A_HUMAN chromosome 21 open reading frame 45 36 cell division|CenH3-containing nucleosome assembly at centromere|mitosis chromosome, centromeric region|nucleoplasm 0 CGAGTCTTCGGAGAGTCTCTT 0.637 NaN 0 0 0 1 0 16 57 GCFC1 94104 broad.mit.edu 37 21 34133456 34133456 + Missense_Mutation SNP C C G rs79555426 by1000genomes TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr21:34133456C>G uc002yqn.2 - 5 1079 c.889G>C c.(889-891)GAT>CAT p.D297H GCFC1_uc002yqo.2_RNA|GCFC1_uc002yqp.2_Missense_Mutation_p.D297H|GCFC1_uc002yqr.2_Missense_Mutation_p.D297H NM_016631 NP_057715 Q9Y5B6 GCFC1_HUMAN GC-rich sequence DNA-binding factor candidate 297 cytosol|nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 AAAGCATCATCATCACTCCCC 0.423 NaN 0 0 0 1 0 60 194 KCNE2 9992 broad.mit.edu 37 21 35743045 35743045 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr21:35743045G>C uc002ytt.1 + 2 408 c.268G>C c.(268-270)GAG>CAG p.E90Q NM_172201 NP_751951 Q9Y6J6 KCNE2_HUMAN potassium voltage-gated channel, Isk-related 90 Cytoplasmic (Potential). blood circulation|muscle contraction|regulation of heart contraction lysosome|voltage-gated potassium channel complex voltage-gated potassium channel activity 0 GTACATTGTAGAGGACTGGCA 0.483 NaN 0 0 0 1 0 14 39 DOPEY2 9980 broad.mit.edu 37 21 37617591 37617591 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr21:37617591G>C uc002yvg.2 + 19 3392 c.3313G>C c.(3313-3315)GAC>CAC p.D1105H DOPEY2_uc011aeb.1_Missense_Mutation_p.D1054H|DOPEY2_uc002yvh.2_5'UTR NM_005128 NP_005119 Q9Y3R5 DOP2_HUMAN pad-1-like 1105 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane ovary(1)|central_nervous_system(1) 2 CGGCGCCCCGGACAGCAGCGA 0.647 NaN 0 0 0 1 0 21 104 DOPEY2 9980 broad.mit.edu 37 21 37617864 37617864 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr21:37617864G>A uc002yvg.2 + 19 3665 c.3586G>A c.(3586-3588)GAG>AAG p.E1196K DOPEY2_uc011aeb.1_Missense_Mutation_p.E1145K|DOPEY2_uc002yvh.2_Missense_Mutation_p.E47K NM_005128 NP_005119 Q9Y3R5 DOP2_HUMAN pad-1-like 1196 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane ovary(1)|central_nervous_system(1) 2 CTCCAGCGACGAGGAGGCGGA 0.617 NaN 0 0 0 1 0 22 71 DOPEY2 9980 broad.mit.edu 37 21 37618604 37618604 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr21:37618604G>A uc002yvg.2 + 19 4405 c.4326G>A c.(4324-4326)CTG>CTA p.L1442L DOPEY2_uc011aeb.1_Silent_p.L1391L|DOPEY2_uc002yvh.2_Silent_p.L293L NM_005128 NP_005119 Q9Y3R5 DOP2_HUMAN pad-1-like 1442 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane ovary(1)|central_nervous_system(1) 2 TTGAGCTGCTGAAGCTGCTGC 0.612 NaN 0 0 0 1 0 16 43 DOPEY2 9980 broad.mit.edu 37 21 37618697 37618697 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr21:37618697G>C uc002yvg.2 + 19 4498 c.4419G>C c.(4417-4419)CAG>CAC p.Q1473H DOPEY2_uc011aeb.1_Missense_Mutation_p.Q1422H|DOPEY2_uc002yvh.2_Missense_Mutation_p.Q324H NM_005128 NP_005119 Q9Y3R5 DOP2_HUMAN pad-1-like 1473 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane ovary(1)|central_nervous_system(1) 2 GGGAGTGGCAGAGAGCCCTGA 0.647 NaN 0 0 0 1 0 8 33 DOPEY2 9980 broad.mit.edu 37 21 37620841 37620841 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr21:37620841C>G uc002yvg.2 + 21 5052 c.4973C>G c.(4972-4974)TCT>TGT p.S1658C DOPEY2_uc011aeb.1_Missense_Mutation_p.S1607C|DOPEY2_uc002yvh.2_Missense_Mutation_p.S509C NM_005128 NP_005119 Q9Y3R5 DOP2_HUMAN pad-1-like 1658 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane ovary(1)|central_nervous_system(1) 2 AAGGGATCCTCTTCCGTTTAC 0.438 NaN 0 0 0 1 0 12 54 MORC3 23515 broad.mit.edu 37 21 37717293 37717293 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr21:37717293C>T uc002yvi.2 + 8 1045 c.969C>T c.(967-969)CTC>CTT p.L323L NM_015358 NP_056173 Q14149 MORC3_HUMAN MORC family CW-type zinc finger 3 323 cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization aggresome|intermediate filament cytoskeleton|PML body ATP binding|zinc ion binding ovary(2) 2 GAAATAGACTCATCAAAGCTT 0.279 NaN 0 0 0 1 0 9 26 DSCAM 1826 broad.mit.edu 37 21 41561016 41561016 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr21:41561016G>C uc002yyq.1 - 12 2958 c.2506C>G c.(2506-2508)CTT>GTT p.L836V DSCAM_uc002yyr.1_RNA NM_001389 NP_001380 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule isoform 836 Ig-like C2-type 9.|Extracellular (Potential). cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding ovary(6)|skin(4)|upper_aerodigestive_tract(1) 11 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) GTGGACACAAGATAACGGGCC 0.473 NaN 0 0 0 1 0 39 113 TMPRSS2 7113 broad.mit.edu 37 21 42845282 42845282 + Nonsense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr21:42845282C>T uc002yzj.2 - 9 1003 c.869G>A c.(868-870)TGG>TAG p.W290* TMPRSS2_uc010gor.2_Nonsense_Mutation_p.W327*|TMPRSS2_uc010gos.1_Nonsense_Mutation_p.W290* NM_005656 NP_005647 O15393 TMPS2_HUMAN transmembrane protease, serine 2 isoform 2 290 Peptidase S1.|Extracellular (Potential). proteolysis cytoplasm|extracellular region|integral to plasma membrane scavenger receptor activity|serine-type endopeptidase activity TMPRSS2/ERG(2499)|TMPRSS2/ETV1(24) prostate(2523)|central_nervous_system(1) 2524 Prostate(19;4.48e-07)|all_epithelial(19;0.031) TGTCACGATCCACTCGGGGGT 0.672 NaN T ERG|ETV1|ETV4|ETV5 prostate 0 0 0 1 0 10 24 PDE9A 5152 broad.mit.edu 37 21 44192610 44192610 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr21:44192610G>C uc002zbm.2 + 19 1811 c.1748G>C c.(1747-1749)AGA>ACA p.R583T PDE9A_uc002zbn.2_Missense_Mutation_p.R456T|PDE9A_uc002zbo.2_Missense_Mutation_p.R530T|PDE9A_uc002zbp.2_Missense_Mutation_p.R376T|PDE9A_uc002zbq.2_Missense_Mutation_p.R481T|PDE9A_uc002zbs.2_Missense_Mutation_p.R376T|PDE9A_uc002zbr.2_Missense_Mutation_p.R376T|PDE9A_uc002zbt.2_Missense_Mutation_p.R455T|PDE9A_uc002zbu.2_Missense_Mutation_p.R449T|PDE9A_uc002zbv.2_Missense_Mutation_p.R423T|PDE9A_uc002zbw.2_Missense_Mutation_p.R366T|PDE9A_uc002zbx.2_Missense_Mutation_p.R523T|PDE9A_uc002zby.2_Missense_Mutation_p.R366T|PDE9A_uc002zbz.2_Missense_Mutation_p.R475T|PDE9A_uc002zca.2_Missense_Mutation_p.R542T|PDE9A_uc002zcb.2_Missense_Mutation_p.R557T|PDE9A_uc002zcc.2_Missense_Mutation_p.R482T|PDE9A_uc002zcd.2_Missense_Mutation_p.R497T|PDE9A_uc002zce.2_Missense_Mutation_p.R516T|PDE9A_uc002zcf.2_Missense_Mutation_p.R376T|PDE9A_uc002zcg.2_Missense_Mutation_p.R376T|PDE9A_uc002zch.2_Missense_Mutation_p.R366T NM_002606 NP_002597 O76083 PDE9A_HUMAN phosphodiesterase 9A isoform a 583 platelet activation|signal transduction cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding ovary(1)|skin(1) 2 GAGAGAAGCAGAGATGTGAAA 0.498 NaN 0 0 0 1 0 6 15 PWP2 5822 broad.mit.edu 37 21 45548494 45548494 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr21:45548494G>A uc002zeb.2 + 20 2662 c.2572G>A c.(2572-2574)GAC>AAC p.D858N NM_005049 NP_005040 Q15269 PWP2_HUMAN PWP2 periodic tryptophan protein homolog 858 cytoplasm|nucleolus signal transducer activity pancreas(1) 1 STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2) GCACCTGGACGACCTGTCGAA 0.632 NaN 0 0 0 1 0 8 36 KRTAP10-9 386676 broad.mit.edu 37 21 46047228 46047228 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr21:46047228G>A uc002zfp.3 + 1 189 c.140G>A c.(139-141)TGC>TAC p.C47Y C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198690 NP_941963 P60411 KR109_HUMAN keratin associated protein 10-9 47 25 X 5 AA repeats of C-C-X(3). keratin filament 0 ACCCTGGTCTGCACCCCAGTG 0.701 NaN 0 0 0 1 0 36 146 ADARB1 104 broad.mit.edu 37 21 46596309 46596309 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr21:46596309G>A uc002zgy.2 + 4 1128 c.693G>A c.(691-693)CCG>CCA p.P231P ADARB1_uc002zgr.2_Silent_p.P231P|ADARB1_uc002zgs.2_RNA|ADARB1_uc002zgw.2_Silent_p.P231P|ADARB1_uc002zgv.2_RNA|ADARB1_uc002zgt.2_Silent_p.P231P|ADARB1_uc010gpx.2_Intron|ADARB1_uc002zgq.2_RNA|ADARB1_uc002zgu.2_RNA|ADARB1_uc011afo.1_Silent_p.P280P NM_015833 NP_056648 P78563 RED1_HUMAN RNA-specific adenosine deaminase B1 isoform 2 231 DRBM 2. adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing nucleoplasm|nucleus double-stranded RNA adenosine deaminase activity|double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding skin(1) 1 Colorectal(79;0.115) TCCCACCCCCGAGTGGGAAGA 0.597 NaN 0 0 0 1 0 21 84 PCNT 5116 broad.mit.edu 37 21 47851626 47851626 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr21:47851626G>C uc002zji.3 + 38 8355 c.8248G>C c.(8248-8250)GAG>CAG p.E2750Q PCNT_uc002zjj.2_Missense_Mutation_p.E2632Q NM_006031 NP_006022 O95613 PCNT_HUMAN pericentrin 2750 Potential. cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding ovary(4)|breast(2)|pancreas(2) 8 Breast(49;0.112) CCTTGCGGCTGAGAAGAGCCG 0.647 NaN 0 0 0 1 0 7 36 SLC7A4 6545 broad.mit.edu 37 22 21384215 21384215 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr22:21384215C>T uc002zud.2 - 3 1476 c.1408G>A c.(1408-1410)GAT>AAT p.D470N SLC7A4_uc002zue.2_Missense_Mutation_p.D470N NM_004173 NP_004164 O43246 CTR4_HUMAN solute carrier family 7 (cationic amino acid 470 cellular amino acid metabolic process integral to membrane basic amino acid transmembrane transporter activity ovary(1)|lung(1) 2 all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) CTGTACCCATCCAAGAAGCCC 0.612 NaN 0 0 0 1 0 16 48 MYO18B 84700 broad.mit.edu 37 22 26176157 26176157 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr22:26176157C>G uc003abz.1 + 9 2453 c.2203C>G c.(2203-2205)CAG>GAG p.Q735E MYO18B_uc003aca.1_Missense_Mutation_p.Q616E|MYO18B_uc010guy.1_Missense_Mutation_p.Q616E|MYO18B_uc010guz.1_Missense_Mutation_p.Q616E|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_Missense_Mutation_p.Q248E NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN myosin XVIIIB 735 Myosin head-like. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2) 12 CACAGCTGCTCAGCTCCAGGT 0.657 NaN 0 0 0 1 0 6 22 GAS2L1 10634 broad.mit.edu 37 22 29707904 29707904 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr22:29707904C>T uc003afa.1 + 7 1663 c.1464C>T c.(1462-1464)GTC>GTT p.V488V GAS2L1_uc010gvm.1_Intron|GAS2L1_uc003afb.1_3'UTR|GAS2L1_uc003afc.1_Silent_p.V488V|GAS2L1_uc003afd.1_Missense_Mutation_p.S488F|GAS2L1_uc003afe.1_Missense_Mutation_p.S488F NM_152236 NP_689422 Q99501 GA2L1_HUMAN growth arrest-specific 2 like 1 isoform a 488 cell cycle arrest cytoplasm|cytoskeleton 0 TTTCCCGGGTCTCCAGCCCCA 0.716 NaN 0 0 0 1 0 19 50 MTP18 51537 broad.mit.edu 37 22 30822740 30822740 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr22:30822740C>T uc003ahw.1 + 2 251 c.103C>T c.(103-105)CTT>TTT p.L35F SEC14L2_uc010gvw.1_Intron|MTP18_uc010gvx.1_Intron|MTP18_uc003ahv.1_Missense_Mutation_p.L197F|MTP18_uc010gvy.1_Intron|MTP18_uc003ahx.1_Missense_Mutation_p.L35F NM_016498 NP_057582 Q9UDX5 MTFP1_HUMAN mitochondrial protein 18 kDa isoform a 35 Helical; (Potential). apoptosis|carbon utilization integral to membrane|mitochondrial inner membrane carbonate dehydratase activity|zinc ion binding 0 TTTCCGCTCTCTTGTGCCAGC 0.542 NaN OREG0026460 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 1 0 18 58 OSBP2 23762 broad.mit.edu 37 22 31302219 31302219 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr22:31302219G>C uc003aiy.1 + 14 2748 c.2644G>C c.(2644-2646)GAG>CAG p.E882Q OSBP2_uc011ala.1_Missense_Mutation_p.E716Q|OSBP2_uc010gwc.1_Missense_Mutation_p.E709Q|OSBP2_uc011alb.1_Nonstop_Mutation_p.*875S|OSBP2_uc003aiz.1_Missense_Mutation_p.E881Q|OSBP2_uc003aja.1_Missense_Mutation_p.E515Q|OSBP2_uc011alc.1_Missense_Mutation_p.E625Q|OSBP2_uc003ajb.2_Missense_Mutation_p.E427Q|OSBP2_uc011ald.1_Missense_Mutation_p.E426Q|OSBP2_uc010gwd.1_Nonstop_Mutation_p.*365S NM_030758 NP_110385 Q969R2 OSBP2_HUMAN oxysterol binding protein 2 isoform a 882 lipid transport membrane lipid binding breast(1)|skin(1) 2 ACTGTGGTTTGAGAAGAGGCT 0.627 NaN 0 0 0 1 0 34 81 MYH9 4627 broad.mit.edu 37 22 36718556 36718557 + Missense_Mutation DNP TC TC CT TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr22:36718556_36718557TC>CT uc003apg.2 - 6 853_854 c.622_623GA>AG c.(622-624)GAG>AGG p.E208R MYH9_uc003aph.1_Missense_Mutation_p.E72R NM_002473 NP_002464 P35579 MYH9_HUMAN myosin, heavy polypeptide 9, non-muscle 208 Myosin head-like. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1) 11 CAGCTGCCGCTCCAGCTCGCCC 0.683 NaN T ALK ALCL Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome Hereditary_Macrothrombocytopenia_MYH9-associated 0 0 0 1 0 37 59 EP300 2033 broad.mit.edu 37 22 41513766 41513766 + Nonsense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 C T C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr22:41513766C>T uc003azl.3 + 2 1065 c.670C>T c.(670-672)CAG>TAG p.Q224* NM_001429 NP_001420 Q09472 EP300_HUMAN E1A binding protein p300 224 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1) 64 TGAGCCTCTTCAGCAGGGCTC 0.532 NaN T| N|F|Mis|O MLL|RUNXBP2 colorectal|breast|pancreatic|AML|ALL|DLBCL Rubinstein-Taybi_syndrome 0 0 0 1 0 16 34 EP300 2033 broad.mit.edu 37 22 41573148 41573148 + Missense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 G T G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr22:41573148G>T uc003azl.3 + 31 5828 c.5433G>T c.(5431-5433)CAG>CAT p.Q1811H NM_001429 NP_001420 Q09472 EP300_HUMAN E1A binding protein p300 1811 Binding region for E1A adenovirus. apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1) 64 ACATCAAGCAGAAGCTCCGGC 0.597 NaN T| N|F|Mis|O MLL|RUNXBP2 colorectal|breast|pancreatic|AML|ALL|DLBCL Rubinstein-Taybi_syndrome 1 0 1.55811e-20 1 1.65592e-20 31 90 NAGA 4668 broad.mit.edu 37 22 42463781 42463781 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr22:42463781G>A uc003bbx.2 - 4 449 c.312C>T c.(310-312)TTC>TTT p.F104F NAGA_uc003bby.2_Silent_p.F104F|NAGA_uc003bbw.3_Silent_p.F104F NM_000262 NP_000253 P17050 NAGAB_HUMAN alpha-N-acetylgalactosaminidase precursor 104 glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process lysosome alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity central_nervous_system(1) 1 AGTCAGCCAGGAAAGGAATGC 0.582 NaN 0 0 0 1 0 30 95 TCF20 6942 broad.mit.edu 37 22 42606970 42606970 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr22:42606970C>G uc003bcj.1 - 1 4476 c.4342G>C c.(4342-4344)GAG>CAG p.E1448Q TCF20_uc003bck.1_Missense_Mutation_p.E1448Q|TCF20_uc003bnt.2_Missense_Mutation_p.E1448Q NM_005650 NP_005641 Q9UGU0 TCF20_HUMAN transcription factor 20 isoform 1 1448 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding ovary(4)|skin(1) 5 GCATGTGTCTCTGTCTTCACT 0.527 NaN 0 0 0 1 0 52 158 ARFGAP3 26286 broad.mit.edu 37 22 43204836 43204836 + Missense_Mutation SNP C C A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr22:43204836C>A uc003bdd.2 - 13 1477 c.1257G>T c.(1255-1257)AAG>AAT p.K419N ARFGAP3_uc010gzf.2_Missense_Mutation_p.K375N NM_014570 NP_055385 Q9NP61 ARFG3_HUMAN ADP-ribosylation factor GTPase activating 419 intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport cytosol|Golgi membrane ARF GTPase activator activity|protein transporter activity|zinc ion binding breast(1) 1 TGCCAAACTTCTTCTGGGCCT 0.423 NaN 1 0 4.16155e-14 1 4.3788e-14 41 109 PNPLA3 80339 broad.mit.edu 37 22 44342253 44342253 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr22:44342253G>A uc003bei.1 + 9 1610 c.1437G>A c.(1435-1437)AAG>AAA p.K479K PNPLA3_uc010gzm.1_Intron NM_025225 NP_079501 Q9NST1 PLPL3_HUMAN patatin-like phospholipase domain containing 3 479 Lumenal (Potential). triglyceride biosynthetic process|triglyceride catabolic process integral to membrane diolein transacylation activity|mono-olein transacylation activity|phospholipase A2 activity|triglyceride lipase activity 0 Ovarian(80;0.024)|all_neural(38;0.0416) CACTAGAGAAGAGTCTGTGAG 0.512 NaN OREG0026623 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 1 0 29 96 PARVB 29780 broad.mit.edu 37 22 44395417 44395417 + Missense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr22:44395417G>T uc003bem.2 + 2 123 c.75G>T c.(73-75)AGG>AGT p.R25S NM_001003828 NP_001003828 Q9HBI1 PARVB_HUMAN parvin, beta isoform a Error:Variant_position_missing_in_Q9HBI1_after_alignment cell adhesion|cell junction assembly cytoskeleton|cytosol|focal adhesion actin binding 0 Ovarian(80;0.0246)|all_neural(38;0.0423) cctgcagcaggaggctggagc 0.005 NaN 1 0 8.73648e-17 1 9.25007e-17 35 105 TBC1D22A 25771 broad.mit.edu 37 22 47307990 47307990 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr22:47307990C>T uc003bib.2 + 8 1056 c.921C>T c.(919-921)TTC>TTT p.F307F TBC1D22A_uc010haf.2_Silent_p.F277F|TBC1D22A_uc003bic.2_Silent_p.F248F|TBC1D22A_uc003bie.2_Silent_p.F229F|TBC1D22A_uc003bid.2_RNA|TBC1D22A_uc010hag.2_RNA|TBC1D22A_uc003bif.2_Silent_p.F260F NM_014346 NP_055161 Q8WUA7 TB22A_HUMAN TBC1 domain family, member 22A 307 Rab-GAP TBC. intracellular protein homodimerization activity|Rab GTPase activator activity ovary(1) 1 all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236) UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231) GGATCTTGTTCATATGGGCGA 0.373 NaN 0 0 0 1 0 35 85 ZBED4 9889 broad.mit.edu 37 22 50277808 50277808 + Silent SNP G G A rs141158718 TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr22:50277808G>A uc003bix.2 + 2 968 c.498G>A c.(496-498)CCG>CCA p.P166P NM_014838 NP_055653 O75132 ZBED4_HUMAN zinc finger, BED-type containing 4 166 BED-type 1. cytoplasm|nucleus DNA binding|metal ion binding|protein dimerization activity ovary(2) 2 all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247) GCGCACACCCGACCGTGCTCA 0.557 NaN 0 0 0 1 0 21 72 FAM116B 414918 broad.mit.edu 37 22 50753332 50753332 + Silent SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr22:50753332C>G uc011aru.1 - 11 849 c.777G>C c.(775-777)CTG>CTC p.L259L FAM116B_uc011arv.1_Silent_p.L259L NM_001001794 NP_001001794 Q8NEG7 F116B_HUMAN family with sequence similarity 116, member B 259 0 all_cancers(38;4.34e-09)|all_epithelial(38;3.03e-08)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) GCATATGAGTCAGCACAGGCC 0.672 NaN 0 0 0 1 0 12 36 ARSA 410 broad.mit.edu 37 22 51063878 51063878 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr22:51063878C>T uc003bnb.3 - 9 1472 c.1219G>A c.(1219-1221)GAT>AAT p.D407N ARSA_uc003bna.3_Missense_Mutation_p.D323N|ARSA_uc003bnc.3_Missense_Mutation_p.D407N|ARSA_uc003bnd.3_Missense_Mutation_p.D407N|ARSA_uc003bmz.3_Missense_Mutation_p.D407N NM_001085426 NP_001078895 P15289 ARSA_HUMAN arylsulfatase A isoform a precursor 407 Missing (in MLD; late-infantile-onset). lysosome arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity pancreas(1)|skin(1) 2 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) Micafungin(DB01141) GCAGTGGTATCACTGTGGGCA 0.642 NaN 0 0 0 1 0 85 71 CPNE9 151835 broad.mit.edu 37 3 9754751 9754751 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:9754751G>A uc003bsd.2 + 9 809 c.638G>A c.(637-639)GGA>GAA p.G213E NM_153635 NP_705899 Q8IYJ1 CPNE9_HUMAN copine-like protein 213 C2 2. ovary(2) 2 Medulloblastoma(99;0.227) CTGTGCAATGGAGACTATGAC 0.527 NaN 0 0 0 1 0 11 33 TTLL3 26140 broad.mit.edu 37 3 9843424 9843424 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:9843424G>A uc003btd.3 + 3 311 c.32G>A c.(31-33)CGA>CAA p.R11Q ARPC4_uc003bsz.1_Missense_Mutation_p.R105Q|ARPC4_uc003bta.1_Missense_Mutation_p.R15Q|ARPC4_uc003btb.1_Missense_Mutation_p.R15Q|ARPC4_uc003btc.1_Intron Q9Y4R7 TTLL3_HUMAN RecName: Full=Tubulin--tyrosine ligase-like protein 3; AltName: Full=HOTTL; 11 axoneme assembly|cilium assembly|protein polyglycylation cilium axoneme|cytoplasm|microtubule protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity large_intestine(2) 2 Medulloblastoma(99;0.227) TTTATCCTTCGAAGGAAGCCT 0.498 NaN 0 0 0 1 0 3 20 PRRT3 285368 broad.mit.edu 37 3 9988025 9988025 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:9988025C>T uc003bul.2 - 4 2962 c.2832G>A c.(2830-2832)CCG>CCA p.P944P CIDEC_uc003bto.2_Intron|PRRT3_uc003buk.2_RNA NM_207351 NP_997234 Q5FWE3 PRRT3_HUMAN proline-rich transmembrane protein 3 precursor 944 Cytoplasmic (Potential). integral to membrane 0 GGGCTGGGGTCGGGGCAGGCA 0.662 NaN 0 0 0 1 0 20 49 ATP2B2 491 broad.mit.edu 37 3 10382201 10382201 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:10382201G>A uc003bvt.2 - 20 3544 c.3105C>T c.(3103-3105)ATC>ATT p.I1035I ATP2B2_uc003bvv.2_Silent_p.I990I|ATP2B2_uc003bvw.2_Silent_p.I990I|ATP2B2_uc010hdo.2_Silent_p.I740I NM_001001331 NP_001001331 Q01814 AT2B2_HUMAN plasma membrane calcium ATPase 2 isoform 1 1035 Helical; (Potential). ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding ovary(3)|skin(2)|central_nervous_system(1) 6 TGCCCAGCACGATGGTGCAGA 0.627 NaN 0 0 0 1 0 41 116 SLC6A1 6529 broad.mit.edu 37 3 11058933 11058933 + Missense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:11058933G>T uc010hdq.2 + 3 447 c.36G>T c.(34-36)CAG>CAT p.Q12H NM_003042 NP_003033 P30531 SC6A1_HUMAN solute carrier family 6 (neurotransmitter 12 Cytoplasmic (Potential). neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity ovary(1)|skin(1) 2 Ovarian(110;0.0392) OV - Ovarian serous cystadenocarcinoma(96;0.00099) Cocaine(DB00907)|Tiagabine(DB00906) CCGACGGGCAGATCTCCACCG 0.642 NaN 1 0 5.35356e-11 1 5.5948e-11 23 68 NUP210 23225 broad.mit.edu 37 3 13383323 13383323 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:13383323G>A uc003bxv.1 - 23 3236 c.3153C>T c.(3151-3153)ATC>ATT p.I1051I NM_024923 NP_079199 Q8TEM1 PO210_HUMAN nucleoporin 210 precursor 1051 Lumenal (Probable). carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1) 11 all_neural(104;0.187) TGGTCTGGCCGATGGCCACAC 0.522 NaN 0 0 0 1 0 14 50 ZNF385D 79750 broad.mit.edu 37 3 21462822 21462822 + Nonsense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:21462822G>A uc003cce.2 - 8 1480 c.1072C>T c.(1072-1074)CGA>TGA p.R358* NM_024697 NP_078973 Q9H6B1 Z385D_HUMAN zinc finger protein 385D 358 nucleus nucleic acid binding|zinc ion binding large_intestine(2)|skin(2)|ovary(1) 5 GGAGCAGTTCGAAGACTGAAG 0.473 NaN 0 0 0 1 0 16 30 RARB 5915 broad.mit.edu 37 3 25611305 25611305 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:25611305G>A uc011awl.1 + 4 592 c.526G>A c.(526-528)GAG>AAG p.E176K RARB_uc003cdi.1_Missense_Mutation_p.E57K|RARB_uc003cdh.2_Missense_Mutation_p.E169K NM_016152 NP_057236 P10826 RARB_HUMAN retinoic acid receptor, beta isoform 2 176 Hinge. embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1)|large_intestine(1)|pancreas(1) 3 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799) AGAATGCACAGAGAGCTATGA 0.488 NaN 0 0 0 1 0 29 89 NGLY1 55768 broad.mit.edu 37 3 25773930 25773930 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:25773930C>T uc003cdl.2 - 9 1413 c.1305G>A c.(1303-1305)CAG>CAA p.Q435Q NGLY1_uc010hfg.2_Silent_p.Q417Q|NGLY1_uc003cdm.2_Silent_p.Q435Q|NGLY1_uc011awo.1_Silent_p.Q393Q|NGLY1_uc003cdk.2_RNA NM_018297 NP_060767 Q96IV0 NGLY1_HUMAN N-glycanase 1 isoform 1 435 glycoprotein catabolic process cytoplasm metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding breast(1) 1 CAATTATCCTCTGGAGAAGTT 0.398 NaN 0 0 0 1 0 20 48 GADL1 339896 broad.mit.edu 37 3 30880497 30880497 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:30880497G>A uc003cep.2 - 9 942 c.895C>T c.(895-897)CAT>TAT p.H299Y GADL1_uc003ceq.1_Missense_Mutation_p.H299Y NM_207359 NP_997242 Q6ZQY3 GADL1_HUMAN glutamate decarboxylase-like 1 299 carboxylic acid metabolic process carboxy-lyase activity|pyridoxal phosphate binding 0 Pyridoxal Phosphate(DB00114) ACATCTACATGAAGCCAGAGG 0.418 NaN 0 0 0 1 0 4 65 CCR4 1233 broad.mit.edu 37 3 32995455 32995455 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:32995455G>A uc003cfg.1 + 2 709 c.541G>A c.(541-543)GAG>AAG p.E181K NM_005508 NP_005499 P51679 CCR4_HUMAN chemokine (C-C motif) receptor 4 181 Extracellular (Potential). chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response integral to plasma membrane lung(1) 1 TTGTTATACTGAGCGCAACCA 0.507 NaN 0 0 0 1 0 28 92 STAC 6769 broad.mit.edu 37 3 36587730 36587730 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:36587730C>T uc003cgh.1 + 11 1197 c.1158C>T c.(1156-1158)CTC>CTT p.L386L STAC_uc011aya.1_Silent_p.L325L NM_003149 NP_003140 Q99469 STAC_HUMAN SH3 and cysteine rich domain 386 intracellular signal transduction cytoplasm|soluble fraction metal ion binding skin(2)|ovary(1)|pancreas(1) 4 TCAGAGTCCTCAGTGGAAAAA 0.438 NaN 0 0 0 1 0 29 88 TRANK1 9881 broad.mit.edu 37 3 36897001 36897001 + Missense_Mutation SNP C C A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:36897001C>A uc003cgj.2 - 3 2732 c.2430G>T c.(2428-2430)CAG>CAT p.Q810H NM_014831 NP_055646 O15050 TRNK1_HUMAN lupus brain antigen 1 1360 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(1)|central_nervous_system(1) 2 AATAACCTTTCTGGGACCTGA 0.473 NaN 1 0 1.39193e-11 1 1.45645e-11 51 131 TRANK1 9881 broad.mit.edu 37 3 36897398 36897398 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:36897398C>G uc003cgj.2 - 3 2335 c.2033G>C c.(2032-2034)AGA>ACA p.R678T NM_014831 NP_055646 O15050 TRNK1_HUMAN lupus brain antigen 1 1228 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(1)|central_nervous_system(1) 2 TATGATGGTTCTTTTCAAGCT 0.468 NaN 0 0 0 1 0 52 101 LRRFIP2 9209 broad.mit.edu 37 3 37107346 37107346 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:37107346G>C uc003cgp.2 - 24 2077 c.1654C>G c.(1654-1656)CAG>GAG p.Q552E MLH1_uc011aye.1_3'UTR|LRRFIP2_uc011ayf.1_Missense_Mutation_p.Q334E|LRRFIP2_uc003cgr.2_Missense_Mutation_p.Q255E|LRRFIP2_uc003cgs.3_Missense_Mutation_p.Q255E|LRRFIP2_uc003cgt.3_Missense_Mutation_p.Q231E NM_006309 NP_006300 Q9Y608 LRRF2_HUMAN leucine rich repeat (in FLII) interacting 552 Wnt receptor signaling pathway LRR domain binding ovary(1) 1 GCAGCTTCCTGAGACACAACA 0.483 NaN 0 0 0 1 0 27 84 DLEC1 9940 broad.mit.edu 37 3 38158112 38158112 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:38158112C>T uc003cho.1 + 28 4046 c.4025C>T c.(4024-4026)TCC>TTC p.S1342F DLEC1_uc003chp.1_Missense_Mutation_p.S1342F|DLEC1_uc010hgv.1_Missense_Mutation_p.S1345F|DLEC1_uc003chr.1_Missense_Mutation_p.S413F|DLEC1_uc010hgx.1_RNA|DLEC1_uc003chs.1_5'Flank NM_007335 NP_031361 Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 isoform 1342 negative regulation of cell proliferation cytoplasm ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1) 9 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) CCAGGCCCCTCCAGTTCATCG 0.627 NaN 0 0 0 1 0 35 99 ACAA1 30 broad.mit.edu 37 3 38168124 38168124 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:38168124C>T uc003cht.2 - 8 901 c.694G>A c.(694-696)GAT>AAT p.D232N ACAA1_uc003chu.2_Missense_Mutation_p.D199N|ACAA1_uc010hgy.2_Missense_Mutation_p.D191N|ACAA1_uc010hgz.2_Missense_Mutation_p.D232N|ACAA1_uc003chv.2_Missense_Mutation_p.D80N NM_001607 NP_001598 P09110 THIK_HUMAN acetyl-Coenzyme A acyltransferase 1 isoform a 232 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy peroxisomal matrix acetyl-CoA C-acyltransferase activity|protein binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657) CCCTTGTCATCATGGACCGTG 0.592 NaN 0 0 0 1 0 30 93 XYLB 9942 broad.mit.edu 37 3 38404477 38404477 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:38404477C>T uc003cic.2 + 4 369 c.260C>T c.(259-261)TCT>TTT p.S87F XYLB_uc011ayp.1_Intron|XYLB_uc003cid.1_Missense_Mutation_p.S9F NM_005108 NP_005099 O75191 XYLB_HUMAN xylulokinase 87 D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process ATP binding|xylulokinase activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405) TTCGACTTCTCTCAAGTCCTA 0.522 NaN 0 0 0 1 0 20 90 ZNF619 285267 broad.mit.edu 37 3 40529228 40529228 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:40529228C>T uc011azb.1 + 6 1625 c.1347C>T c.(1345-1347)TTC>TTT p.F449F ZNF619_uc010hhz.2_Silent_p.F400F|ZNF619_uc003ckj.2_Silent_p.F393F|ZNF619_uc011azc.1_Silent_p.F409F|ZNF619_uc011azd.1_Silent_p.F365F|ZNF619_uc011aza.1_Silent_p.F351F NM_001145082 NP_001138554 E9PCD9 E9PCD9_HUMAN zinc finger protein 619 isoform 1 449 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) GGAAAACTTTCAGCTGTAGCT 0.468 NaN 0 0 0 1 0 21 79 C3orf23 285343 broad.mit.edu 37 3 44442825 44442825 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:44442825G>C uc010him.2 + 10 1494 c.1249G>C c.(1249-1251)GAG>CAG p.E417Q C3orf23_uc003cnd.3_Missense_Mutation_p.E417Q|C3orf23_uc003cne.3_Missense_Mutation_p.E273Q NM_173826 NP_776187 Q8N3R3 CC023_HUMAN hypothetical protein LOC285343 isoform 1 417 Potential. mitochondrion upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585) AAGAAAGGAAGAGTAAGTACT 0.398 NaN 0 0 0 1 0 19 55 CDCP1 64866 broad.mit.edu 37 3 45153662 45153662 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:45153662C>G uc003com.2 - 3 703 c.568G>C c.(568-570)GAA>CAA p.E190Q CDCP1_uc003con.2_Missense_Mutation_p.E190Q NM_022842 NP_073753 Q9H5V8 CDCP1_HUMAN CUB domain-containing protein 1 isoform 1 190 Extracellular (Potential). extracellular region|integral to membrane|plasma membrane ovary(1)|central_nervous_system(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651) TTCACTCCTTCTTGCATCTTG 0.537 NaN 0 0 0 1 0 41 104 CCR2 729230 broad.mit.edu 37 3 46399402 46399402 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:46399402C>T uc003cpn.3 + 2 869 c.384C>T c.(382-384)ATC>ATT p.I128I CCR2_uc003cpm.3_Silent_p.I128I NM_001123041 NP_001116513 P41597 CCR2_HUMAN chemokine (C-C motif) receptor 2 isoform A 128 Helical; Name=3; (Potential). astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity lung(1)|breast(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206) TTGGCGGAATCTTCTTCATCA 0.468 NaN 0 0 0 1 0 76 274 LTF 4057 broad.mit.edu 37 3 46492002 46492002 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:46492002G>A uc003cpq.2 - 7 903 c.865C>T c.(865-867)CTT>TTT p.L289F LTF_uc003fzr.2_Missense_Mutation_p.L245F|LTF_uc010hjh.2_Missense_Mutation_p.L289F|LTF_uc003cpr.2_Missense_Mutation_p.L276F NM_002343 NP_002334 P02788 TRFL_HUMAN lactotransferrin precursor 289 Transferrin-like 1. cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport extracellular region|stored secretory granule ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity central_nervous_system(2)|ovary(1)|lung(1) 4 all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089) Pefloxacin(DB00487) TGGCGGAGAAGATTCCAGATG 0.562 NaN 0 0 0 1 0 9 27 PRSS50 29122 broad.mit.edu 37 3 46753882 46753882 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:46753882C>T uc003cqe.1 - 6 1071 c.1012G>A c.(1012-1014)GAG>AAG p.E338K PRSS50_uc003cqf.1_Missense_Mutation_p.E252K NM_013270 NP_037402 Q9UI38 TSP50_HUMAN testes-specific protease 50 precursor 338 Peptidase S1. proteolysis endoplasmic reticulum serine-type endopeptidase activity|threonine-type endopeptidase activity 0 GGTGGGGCCTCGCTCTTCTGG 0.637 NaN 0 0 0 1 0 15 48 KLHL18 23276 broad.mit.edu 37 3 47384267 47384267 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:47384267G>C uc003crd.2 + 9 1411 c.1285G>C c.(1285-1287)GAG>CAG p.E429Q KLHL18_uc011bav.1_Missense_Mutation_p.E317Q NM_025010 NP_079286 O94889 KLH18_HUMAN kelch-like 18 429 Kelch 3. 0 Acute lymphoblastic leukemia(5;0.164) BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741) TACAGTCTTTGAGGGCAGGAT 0.512 NaN 0 0 0 1 0 22 53 DHX30 22907 broad.mit.edu 37 3 47868907 47868907 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:47868907C>T uc003cru.2 + 5 621 c.195C>T c.(193-195)CTC>CTT p.L65L DHX30_uc003crs.2_Silent_p.L26L|DHX30_uc003crt.2_Silent_p.L26L|DHX30_uc010hjr.1_Silent_p.L93L NM_138615 NP_619520 Q7L2E3 DHX30_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 30 65 DRBM. mitochondrial nucleoid ATP binding|ATP-dependent helicase activity|protein binding|RNA binding ovary(2)|skin(2) 4 BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) GAAGAGCCCTCGGCATCTCAC 0.418 NaN 0 0 0 1 0 23 59 COL7A1 1294 broad.mit.edu 37 3 48603971 48603971 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:48603971C>G uc003ctz.2 - 112 8331 c.8330G>C c.(8329-8331)CGA>CCA p.R2777P UCN2_uc003cty.1_5'Flank NM_000094 NP_000085 Q02388 CO7A1_HUMAN alpha 1 type VII collagen precursor 2777 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity ovary(4)|breast(3)|skin(3)|central_nervous_system(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CTTCTCGCCTCGAGGACCGGC 0.473 NaN 0 0 0 1 0 44 142 COL7A1 1294 broad.mit.edu 37 3 48613150 48613150 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:48613150C>G uc003ctz.2 - 72 5889 c.5888G>C c.(5887-5889)TGG>TCG p.W1963S NM_000094 NP_000085 Q02388 CO7A1_HUMAN alpha 1 type VII collagen precursor 1963 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity ovary(4)|breast(3)|skin(3)|central_nervous_system(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GCTCTCATCCCAGGTCTCCAC 0.667 NaN 0 0 0 1 0 20 89 PRKAR2A 5576 broad.mit.edu 37 3 48884791 48884791 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:48884791G>A uc010hki.1 - 1 480 c.239C>T c.(238-240)TCG>TTG p.S80L PRKAR2A_uc003cux.1_Missense_Mutation_p.S80L|PRKAR2A_uc003cuy.1_Missense_Mutation_p.S80L|uc003cuz.1_5'Flank NM_004157 NP_004148 P13861 KAP2_HUMAN cAMP-dependent protein kinase, regulatory 80 Dimerization and phosphorylation. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport centrosome|cytosol|membrane fraction cAMP binding|cAMP-dependent protein kinase regulator activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000176)|Kidney(197;0.00246)|KIRC - Kidney renal clear cell carcinoma(197;0.00261) GTCCTCCTCCGACTCGCTGTC 0.716 NaN 0 0 0 1 0 14 27 PRKAR2A 5576 broad.mit.edu 37 3 48884887 48884887 + Nonsense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:48884887G>C uc010hki.1 - 1 384 c.143C>G c.(142-144)TCA>TGA p.S48* PRKAR2A_uc003cux.1_Nonsense_Mutation_p.S48*|PRKAR2A_uc003cuy.1_Nonsense_Mutation_p.S48*|uc003cuz.1_5'Flank NM_004157 NP_004148 P13861 KAP2_HUMAN cAMP-dependent protein kinase, regulatory 48 Dimerization and phosphorylation. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport centrosome|cytosol|membrane fraction cAMP binding|cAMP-dependent protein kinase regulator activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000176)|Kidney(197;0.00246)|KIRC - Kidney renal clear cell carcinoma(197;0.00261) GGGCAGGACTGAGGCTGGGGC 0.726 NaN 0 0 0 1 0 6 11 P4HTM 54681 broad.mit.edu 37 3 49027929 49027929 + Silent SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:49027929C>G uc003cvg.2 + 1 589 c.240C>G c.(238-240)CTC>CTG p.L80L P4HTM_uc003cvh.2_Silent_p.L80L NM_177939 NP_808808 Q9NXG6 P4HTM_HUMAN hypoxia-inducible factor prolyl 4-hydroxylase 80 Helical; Signal-anchor for type II membrane protein; (Potential). endoplasmic reticulum membrane|integral to membrane calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen skin(1)|pancreas(1) 2 Vitamin C(DB00126) CGCTGCTGCTCTTCGTGCACT 0.682 NaN 0 0 0 1 0 14 33 WDR6 11180 broad.mit.edu 37 3 49050213 49050213 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:49050213C>T uc003cvj.2 + 2 1474 c.1336C>T c.(1336-1338)CGT>TGT p.R446C WDR6_uc011bbx.1_Missense_Mutation_p.R317C|WDR6_uc011bby.1_Intron|WDR6_uc010hkn.2_Missense_Mutation_p.R390C|WDR6_uc011bbz.1_Missense_Mutation_p.R365C NM_018031 NP_060501 Q9NNW5 WDR6_HUMAN WD repeat domain 6 protein 416 cell cycle arrest|negative regulation of cell proliferation cytoplasm central_nervous_system(1) 1 Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155) TGGGGAAGGTCGTGTCAAGGT 0.572 NaN 0 0 0 1 0 10 49 LAMB2 3913 broad.mit.edu 37 3 49160696 49160696 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:49160696G>A uc003cwe.2 - 26 4392 c.4093C>T c.(4093-4095)CGG>TGG p.R1365W USP19_uc003cvz.3_5'Flank|USP19_uc011bcg.1_5'Flank|USP19_uc003cwb.2_5'Flank|USP19_uc003cwd.1_5'Flank|USP19_uc011bch.1_5'Flank|USP19_uc011bci.1_5'Flank NM_002292 NP_002283 P55268 LAMB2_HUMAN laminin, beta 2 precursor 1365 Domain II. cell adhesion laminin-11 complex|laminin-3 complex structural molecule activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) GTCCGATGCCGAGCACTTGCC 0.587 NaN 0 0 0 1 0 41 124 KLHDC8B 200942 broad.mit.edu 37 3 49212219 49212219 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:49212219G>C uc003cwh.2 + 4 771 c.586G>C c.(586-588)GAT>CAT p.D196H KLHDC8B_uc003cwi.1_Missense_Mutation_p.D69H NM_173546 NP_775817 Q8IXV7 KLD8B_HUMAN kelch domain containing 8B 196 Kelch 5. cytoplasm 0 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) TGAAGCCTTTGATCTGGAGGC 0.632 NaN 0 0 0 1 0 22 58 DAG1 1605 broad.mit.edu 37 3 49569108 49569108 + Silent SNP T T C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:49569108T>C uc003cxc.3 + 3 1582 c.1164T>C c.(1162-1164)ACT>ACC p.T388T NM_004393 NP_004384 Q14118 DAG1_HUMAN dystroglycan 1 preproprotein 388 Thr-rich.|Required for laminin recognition.|Mucin-like domain. cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) TCCAGCCTACTCGGGTGTCAG 0.587 NaN 0 0 0 1 0 59 152 IP6K1 9807 broad.mit.edu 37 3 49770264 49770264 + Silent SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:49770264C>G uc003cxm.1 - 4 891 c.576G>C c.(574-576)CTG>CTC p.L192L IP6K1_uc003cxn.1_Silent_p.L27L|IP6K1_uc011bcv.1_Silent_p.L27L|IP6K1_uc003cxo.2_Silent_p.L192L NM_153273 NP_695005 Q92551 IP6K1_HUMAN inositol hexakisphosphate kinase 1 isoform 1 192 phosphatidylinositol phosphorylation cytoplasm|nucleus ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity 0 GCATGCGGCTCAGCTGCTGCT 0.567 NaN 0 0 0 1 0 25 53 PBRM1 55193 broad.mit.edu 37 3 52582190 52582190 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:52582190C>T uc003des.2 - 30 4971 c.4959G>A c.(4957-4959)CTG>CTA p.L1653L PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Silent_p.L1546L|PBRM1_uc003der.2_Silent_p.L1566L|PBRM1_uc003det.2_Silent_p.L1561L|PBRM1_uc003deu.2_Silent_p.L1616L|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Silent_p.L1598L|PBRM1_uc010hmk.1_Silent_p.L1573L|PBRM1_uc003dey.2_Silent_p.L1546L NM_181042 NP_060635 Q86U86 PB1_HUMAN polybromo 1 isoform 4 1653 chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding kidney(136)|breast(4) 140 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) CTTTGCTTTTCAGCCAGTGAG 0.507 NaN Mis|N|F|S|D|O clear cell renal carcinoma|breast 0 0 0 1 0 46 121 PBRM1 55193 broad.mit.edu 37 3 52620683 52620683 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:52620683C>T uc003des.2 - 20 3157 c.3145G>A c.(3145-3147)GAA>AAA p.E1049K PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Missense_Mutation_p.E1049K|PBRM1_uc003der.2_Missense_Mutation_p.E1017K|PBRM1_uc003det.2_Missense_Mutation_p.E1064K|PBRM1_uc003deu.2_Missense_Mutation_p.E1064K|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Missense_Mutation_p.E1049K|PBRM1_uc010hmk.1_Missense_Mutation_p.E1024K|PBRM1_uc003dey.2_Missense_Mutation_p.E1024K|PBRM1_uc003dez.1_Missense_Mutation_p.E1048K|PBRM1_uc003dfb.1_Missense_Mutation_p.E961K|PBRM1_uc003dfa.1_Missense_Mutation_p.E395K NM_181042 NP_060635 Q86U86 PB1_HUMAN polybromo 1 isoform 4 1049 BAH 1. chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding kidney(136)|breast(4) 140 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) CGGAAGTTTTCTGGGCATAAC 0.358 NaN Mis|N|F|S|D|O clear cell renal carcinoma|breast 0 0 0 1 0 14 66 PBRM1 55193 broad.mit.edu 37 3 52621527 52621527 + Splice_Site SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:52621527C>G uc003des.2 - 19 2978 c.2966_splice c.e19-1 p.G989_splice PBRM1_uc003dex.2_Splice_Site|PBRM1_uc003deq.2_Splice_Site_p.G989_splice|PBRM1_uc003der.2_Splice_Site_p.G957_splice|PBRM1_uc003det.2_Splice_Site_p.G1004_splice|PBRM1_uc003deu.2_Splice_Site_p.G1004_splice|PBRM1_uc003dev.2_Splice_Site|PBRM1_uc003dew.2_Splice_Site_p.G989_splice|PBRM1_uc010hmk.1_Intron|PBRM1_uc003dey.2_Intron|PBRM1_uc003dez.1_Splice_Site_p.G988_splice|PBRM1_uc003dfb.1_Splice_Site_p.G901_splice|PBRM1_uc003dfa.1_Splice_Site_p.G335_splice NM_181042 NP_060635 Q86U86 PB1_HUMAN polybromo 1 isoform 4 chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding kidney(136)|breast(4) 140 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) CATTTTTCACCTCAAAAATGG 0.313 NaN Mis|N|F|S|D|O clear cell renal carcinoma|breast 0 0 0 1 0 13 57 ACTR8 93973 broad.mit.edu 37 3 53908249 53908249 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:53908249G>C uc003dhd.2 - 8 1113 c.1054C>G c.(1054-1056)CAT>GAT p.H352D ACTR8_uc003dhb.2_Intron|ACTR8_uc003dhc.2_Missense_Mutation_p.H241D NM_022899 NP_075050 Q9H981 ARP8_HUMAN actin-related protein 8 352 cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ino80 complex protein binding ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111) TGATCTAAATGACAAAAAGTT 0.328 NaN 0 0 0 1 0 16 39 PDE12 201626 broad.mit.edu 37 3 57545645 57545645 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:57545645G>A uc003diw.3 + 3 1870 c.1744G>A c.(1744-1746)GAA>AAA p.E582K PDE12_uc003div.2_3'UTR NM_177966 NP_808881 Q6L8Q7 PDE12_HUMAN phosphodiesterase 12 582 hydrolase activity 0 KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127) ACCTAGTCATGAAGAAGTTAC 0.373 NaN 0 0 0 1 0 37 110 CADPS 8618 broad.mit.edu 37 3 62501761 62501761 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:62501761G>A uc003dll.2 - 16 2914 c.2554C>T c.(2554-2556)CGG>TGG p.R852W CADPS_uc003dlk.1_Missense_Mutation_p.R356W|CADPS_uc003dlm.2_Missense_Mutation_p.R852W|CADPS_uc003dln.2_Missense_Mutation_p.R835W NM_003716 NP_003707 Q9ULU8 CAPS1_HUMAN Ca2+-dependent secretion activator isoform 1 852 Interaction with DRD2. exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding central_nervous_system(2)|ovary(1) 3 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) TCTGAGAGCCGAGAATAGTTG 0.433 NaN 0 0 0 1 0 22 61 MAGI1 9223 broad.mit.edu 37 3 65464309 65464309 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:65464309C>T uc003dmn.2 - 4 1241 c.715G>A c.(715-717)GAG>AAG p.E239K MAGI1_uc003dmm.2_Missense_Mutation_p.E239K|MAGI1_uc003dmo.2_Missense_Mutation_p.E239K|MAGI1_uc003dmp.2_Missense_Mutation_p.E239K|MAGI1_uc010hny.2_Missense_Mutation_p.E123K|MAGI1_uc003dmr.2_Missense_Mutation_p.E239K NM_001033057 NP_001028229 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ 239 Guanylate kinase-like. cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1) 6 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) TCCTCCTCCTCATTCTCCGCG 0.517 NaN 0 0 0 1 0 26 109 LRIG1 26018 broad.mit.edu 37 3 66433416 66433416 + Silent SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:66433416G>C uc003dmx.2 - 15 2495 c.2481C>G c.(2479-2481)GTC>GTG p.V827V SLC25A26_uc011bft.1_Intron|LRIG1_uc011bfu.1_Silent_p.V447V|LRIG1_uc003dmw.2_Silent_p.V493V|LRIG1_uc010hnz.2_Silent_p.V543V|LRIG1_uc010hoa.2_Silent_p.V804V NM_015541 NP_056356 Q96JA1 LRIG1_HUMAN leucine-rich repeats and immunoglobulin-like 827 Cytoplasmic (Potential). integral to membrane skin(3)|ovary(2) 5 Lung NSC(201;0.0101) BRCA - Breast invasive adenocarcinoma(55;0.00047) CTGTGTTGGTGACACTGTACT 0.557 NaN 0 0 0 1 0 13 51 KBTBD8 84541 broad.mit.edu 37 3 67049613 67049613 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:67049613C>T uc003dmy.2 + 2 278 c.225C>T c.(223-225)TTC>TTT p.F75F KBTBD8_uc011bfv.1_Intron NM_032505 NP_115894 Q8NFY9 KBTB8_HUMAN T-cell activation kelch repeat protein 75 BTB. ovary(2)|large_intestine(1)|breast(1) 4 Lung NSC(201;0.0765) BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125) GCCCTTACTTCAGGTATGATG 0.428 NaN 0 0 0 1 0 28 98 MITF 4286 broad.mit.edu 37 3 70005608 70005608 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:70005608G>C uc003dnz.2 + 8 1056 c.940G>C c.(940-942)GAA>CAA p.E314Q MITF_uc011bgb.1_Missense_Mutation_p.E262Q|MITF_uc003doa.2_Missense_Mutation_p.E313Q|MITF_uc003dob.2_Missense_Mutation_p.E298Q|MITF_uc003dod.2_Missense_Mutation_p.E289Q|MITF_uc003doe.2_Missense_Mutation_p.E207Q|MITF_uc003dof.2_Missense_Mutation_p.E213Q NM_198159 NP_937802 O75030 MITF_HUMAN microphthalmia-associated transcription factor 320 Basic motif. melanocyte differentiation|multicellular organismal development|protein complex assembly nucleus|protein complex DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription ovary(2) 2 Lung NSC(201;0.0384)|Prostate(884;0.0526) BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239) TCTTGAAGTTGAACGAAGAAG 0.383 NaN A melanoma Waardenburg syndrome type 2|Tietz syndrome 0 0 0 1 0 9 30 ROBO1 6091 broad.mit.edu 37 3 78649360 78649360 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:78649360C>G uc003dqe.2 - 30 5052 c.4844G>C c.(4843-4845)AGA>ACA p.R1615T ROBO1_uc003dqb.2_Missense_Mutation_p.R1576T|ROBO1_uc003dqc.2_Missense_Mutation_p.R1515T|ROBO1_uc003dqd.2_Missense_Mutation_p.R1570T|ROBO1_uc010hoh.2_Missense_Mutation_p.R807T NM_002941 NP_002932 Q9Y6N7 ROBO1_HUMAN roundabout 1 isoform a 1615 Cytoplasmic (Potential). activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding large_intestine(2) 2 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) TTCTCTTTGTCTGCTTCCTGA 0.383 NaN 0 0 0 1 0 14 39 OR5K3 403277 broad.mit.edu 37 3 98109713 98109713 + Silent SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:98109713G>C uc011bgw.1 + 1 204 c.204G>C c.(202-204)CTG>CTC p.L68L NM_001005516 NP_001005516 A6NET4 OR5K3_HUMAN olfactory receptor, family 5, subfamily K, 68 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 ACCTAGTTCTGATGGATTCCT 0.398 NaN 0 0 0 1 0 52 209 BBX 56987 broad.mit.edu 37 3 107524303 107524303 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:107524303G>A uc010hpr.2 + 18 3152 c.2825G>A c.(2824-2826)TGA>TAA p.*942* BBX_uc003dwk.3_Silent_p.*912*|BBX_uc003dwl.3_Missense_Mutation_p.E606K|BBX_uc003dwm.3_Silent_p.*912*|BBX_uc003dwo.3_Missense_Mutation_p.E259K NM_001142568 NP_001136040 Q8WY36 BBX_HUMAN HMG-BOX transcription factor BBX isoform 1 942 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(3)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(3;0.112) GCTGACCAGTGAAGCGCCCTT 0.468 NaN 0 0 0 1 0 21 88 DZIP3 9666 broad.mit.edu 37 3 108380728 108380728 + Missense_Mutation SNP C C T rs139764708 TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:108380728C>T uc003dxd.2 + 20 2626 c.2204C>T c.(2203-2205)TCA>TTA p.S735L DZIP3_uc003dxf.1_Missense_Mutation_p.S735L|DZIP3_uc011bhm.1_Missense_Mutation_p.S186L NM_014648 NP_055463 Q86Y13 DZIP3_HUMAN DAZ interacting protein 3, zinc finger 735 protein polyubiquitination cytoplasm polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 CAATAGGGCTCAGCTGGCAAA 0.358 NaN 0 0 0 1 0 10 21 DZIP3 9666 broad.mit.edu 37 3 108403160 108403160 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:108403160C>T uc003dxd.2 + 27 3403 c.2981C>T c.(2980-2982)TCT>TTT p.S994F DZIP3_uc003dxf.1_Missense_Mutation_p.S994F|DZIP3_uc011bhm.1_Missense_Mutation_p.S445F NM_014648 NP_055463 Q86Y13 DZIP3_HUMAN DAZ interacting protein 3, zinc finger 994 protein polyubiquitination cytoplasm polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 GGAGTCGTCTCTGCAACTGGC 0.433 NaN 0 0 0 1 0 48 222 TRAT1 50852 broad.mit.edu 37 3 108572556 108572556 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:108572556C>G uc003dxi.1 + 6 537 c.393C>G c.(391-393)TTC>TTG p.F131L TRAT1_uc010hpx.1_Missense_Mutation_p.F94L NM_016388 NP_057472 Q6PIZ9 TRAT1_HUMAN T-cell receptor interacting molecule 131 Cytoplasmic (Potential). cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway integral to plasma membrane|T cell receptor complex phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity skin(1) 1 ATACTCATTTCTCAGACAAGG 0.463 NaN 0 0 0 1 0 13 59 MORC1 27136 broad.mit.edu 37 3 108724086 108724086 + Nonsense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:108724086G>C uc003dxl.2 - 19 1931 c.1844C>G c.(1843-1845)TCA>TGA p.S615* MORC1_uc011bhn.1_Nonsense_Mutation_p.S594* NM_014429 NP_055244 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 615 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding ovary(3)|skin(3)|breast(2) 8 ACGGCTCGCTGAAAGCTCAAA 0.358 NaN 0 0 0 1 0 6 35 SIDT1 54847 broad.mit.edu 37 3 113300209 113300209 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:113300209G>A uc003eak.2 + 6 1316 c.665G>A c.(664-666)TGC>TAC p.C222Y SIDT1_uc011bif.1_RNA|SIDT1_uc003eaj.1_Missense_Mutation_p.C222Y|SIDT1_uc011big.1_5'UTR NM_017699 NP_060169 Q9NXL6 SIDT1_HUMAN SID1 transmembrane family, member 1 precursor 222 Extracellular (Potential). integral to membrane ovary(3)|pancreas(1)|skin(1) 5 ATGCTGCAGTGCCCGGTGTAT 0.463 NaN 0 0 0 1 0 15 39 GRAMD1C 54762 broad.mit.edu 37 3 113627832 113627832 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:113627832G>A uc003eaq.3 + 9 893 c.817G>A c.(817-819)GAG>AAG p.E273K GRAMD1C_uc011bil.1_RNA|GRAMD1C_uc011bim.1_RNA|GRAMD1C_uc003ear.2_Missense_Mutation_p.E106K|GRAMD1C_uc003eas.2_Missense_Mutation_p.E68K NM_017577 NP_060047 Q8IYS0 GRM1C_HUMAN GRAM domain containing 1C 273 integral to membrane ovary(2)|skin(1) 3 GTCCCAAAATGAGAAACAGAC 0.338 NaN 0 0 0 1 0 12 29 ZNF80 7634 broad.mit.edu 37 3 113955831 113955831 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:113955831C>T uc010hqo.2 - 1 595 c.91G>A c.(91-93)GAA>AAA p.E31K ZNF80_uc003ebf.2_RNA NM_007136 NP_009067 P51504 ZNF80_HUMAN zinc finger protein 80 31 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Lung NSC(201;0.0233)|all_neural(597;0.0837) GAGTCACATTCATGGAGATTG 0.507 NaN 0 0 0 1 0 18 90 C3orf30 152405 broad.mit.edu 37 3 118865552 118865552 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:118865552G>C uc003ecb.1 + 1 556 c.516G>C c.(514-516)CAG>CAC p.Q172H IGSF11_uc003eby.2_5'Flank|IGSF11_uc003ebz.2_5'Flank|IGSF11_uc010hqs.2_5'Flank|C3orf30_uc011biw.1_Missense_Mutation_p.Q172H NM_152539 NP_689752 Q96M34 CC030_HUMAN hypothetical protein LOC152405 172 ovary(2) 2 GBM - Glioblastoma multiforme(114;0.222) CATCTGACCAGAGAGGTTCCA 0.527 NaN 0 0 0 1 0 24 80 C3orf15 89876 broad.mit.edu 37 3 119469912 119469912 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:119469912G>A uc003ede.3 + 17 2349 c.2272G>A c.(2272-2274)GAG>AAG p.E758K C3orf15_uc010hqz.2_Missense_Mutation_p.E696K|C3orf15_uc011bjd.1_Missense_Mutation_p.E632K|C3orf15_uc011bje.1_Missense_Mutation_p.E738K|C3orf15_uc003edg.3_RNA|C3orf15_uc003edh.3_RNA NM_033364 NP_203528 Q7Z4T9 AAT1_HUMAN AAT1-alpha 594 mitochondrion protein binding ovary(2)|pancreas(1) 3 GBM - Glioblastoma multiforme(114;0.186) CATGTTACTTGAGAAAGAAAC 0.418 NaN 0 0 0 1 0 16 62 POLQ 10721 broad.mit.edu 37 3 121207035 121207035 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:121207035C>T uc003eee.3 - 16 4872 c.4743G>A c.(4741-4743)AAG>AAA p.K1581K POLQ_uc003eed.2_Silent_p.K753K NM_199420 NP_955452 O75417 DPOLQ_HUMAN DNA polymerase theta 1581 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1) 11 GBM - Glioblastoma multiforme(114;0.0915) CAGTATGATTCTTCTCTTGGA 0.383 NaN DNA_polymerases_(catalytic_subunits) 0 0 0 1 0 29 83 IQCB1 9657 broad.mit.edu 37 3 121547358 121547358 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:121547358C>T uc010hre.1 - 4 437 c.222G>A c.(220-222)CAG>CAA p.Q74Q IQCB1_uc003eek.2_Silent_p.Q74Q|IQCB1_uc010hrf.1_RNA NM_001023570 NP_001018864 Q15051 IQCB1_HUMAN IQ motif containing B1 isoform a 74 cilium assembly|maintenance of organ identity|photoreceptor cell maintenance centrosome|photoreceptor connecting cilium calmodulin binding 0 GBM - Glioblastoma multiforme(114;0.0983) TCCAACCACCCTGGATTCGAG 0.363 NaN 0 0 0 1 0 16 50 IQCB1 9657 broad.mit.edu 37 3 121547744 121547744 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:121547744C>G uc010hre.1 - 3 279 c.64G>C c.(64-66)GAG>CAG p.E22Q IQCB1_uc003eek.2_Missense_Mutation_p.E22Q|IQCB1_uc010hrf.1_RNA NM_001023570 NP_001018864 Q15051 IQCB1_HUMAN IQ motif containing B1 isoform a 22 cilium assembly|maintenance of organ identity|photoreceptor cell maintenance centrosome|photoreceptor connecting cilium calmodulin binding 0 GBM - Glioblastoma multiforme(114;0.0983) ACATTCTGCTCAGGGCTTTTT 0.348 NaN 0 0 0 1 0 8 38 IQCB1 9657 broad.mit.edu 37 3 121547781 121547781 + Missense_Mutation SNP C C A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:121547781C>A uc010hre.1 - 3 242 c.27G>T c.(25-27)AGG>AGT p.R9S IQCB1_uc003eek.2_Missense_Mutation_p.R9S|IQCB1_uc010hrf.1_RNA NM_001023570 NP_001018864 Q15051 IQCB1_HUMAN IQ motif containing B1 isoform a 9 cilium assembly|maintenance of organ identity|photoreceptor cell maintenance centrosome|photoreceptor connecting cilium calmodulin binding 0 GBM - Glioblastoma multiforme(114;0.0983) TAGATAAGATCCTTGGGTCTG 0.348 NaN 1 0 0.00116845 1 0.001181 6 40 KALRN 8997 broad.mit.edu 37 3 123987853 123987853 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:123987853G>A uc003ehg.2 + 5 841 c.714G>A c.(712-714)CTG>CTA p.L238L KALRN_uc010hrv.1_Silent_p.L238L|KALRN_uc003ehf.1_Silent_p.L238L|KALRN_uc011bjy.1_Silent_p.L238L NM_001024660 NP_001019831 O60229 KALRN_HUMAN kalirin, RhoGEF kinase isoform 1 238 Spectrin 1. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1) 6 AAAAGGTGCTGAAGGCCCCTG 0.627 NaN 0 0 0 1 0 11 32 PLXNA1 5361 broad.mit.edu 37 3 126722265 126722265 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:126722265C>T uc003ejg.2 + 3 1405 c.1401C>T c.(1399-1401)CTC>CTT p.L467L NM_032242 NP_115618 Q9UIW2 PLXA1_HUMAN plexin A1 490 Sema.|Extracellular (Potential). axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity ovary(1)|pancreas(1)|skin(1) 3 GBM - Glioblastoma multiforme(114;0.155) TGCGAGACCTCGTCCTCAGCC 0.672 NaN 0 0 0 1 0 25 63 PIK3R4 30849 broad.mit.edu 37 3 130464012 130464012 + Missense_Mutation SNP C C G rs143147652 TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:130464012C>G uc003enj.2 - 2 632 c.51G>C c.(49-51)GAG>GAC p.E17D NM_014602 NP_055417 Q99570 PI3R4_HUMAN phosphoinositide-3-kinase, regulatory subunit 4 17 fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway cytosol ATP binding|protein binding|protein serine/threonine kinase activity ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1) 12 AAAAATAACTCTCTACAGAAA 0.438 NaN 0 0 0 1 0 15 40 ACPP 55 broad.mit.edu 37 3 132051183 132051183 + Missense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:132051183G>T uc010htp.2 + 4 541 c.451G>T c.(451-453)GAT>TAT p.D151Y ACPP_uc003eon.3_Missense_Mutation_p.D151Y|ACPP_uc003eop.3_Missense_Mutation_p.D151Y NM_001099 NP_001090 P15309 PPAP_HUMAN acid phosphatase, prostate short isoform 151 extracellular region|lysosomal membrane 5'-nucleotidase activity|acid phosphatase activity ovary(1) 1 TCTTTCTGAAGATCAGGTCAG 0.517 NaN 1 0 6.40141e-05 1 6.50516e-05 12 44 AMOTL2 51421 broad.mit.edu 37 3 134080563 134080563 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:134080563C>T uc003eqf.2 - 6 1657 c.1540G>A c.(1540-1542)GAG>AAG p.E514K AMOTL2_uc003eqg.1_Missense_Mutation_p.E456K|AMOTL2_uc003eqh.1_Missense_Mutation_p.E456K|AMOTL2_uc003eqe.1_Missense_Mutation_p.E81K NM_016201 NP_057285 Q9Y2J4 AMOL2_HUMAN angiomotin like 2 456 Potential. large_intestine(1) 1 TCCAGCAGCTCGGCACGCCGC 0.652 NaN 0 0 0 1 0 13 33 PPP2R3A 5523 broad.mit.edu 37 3 135720716 135720716 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:135720716G>C uc003eqv.1 + 2 941 c.376G>C c.(376-378)GAA>CAA p.E126Q PPP2R3A_uc011blz.1_Intron NM_002718 NP_002709 Q06190 P2R3A_HUMAN protein phosphatase 2, regulatory subunit B'', 126 protein dephosphorylation protein phosphatase type 2A complex calcium ion binding|protein binding|protein phosphatase type 2A regulator activity ovary(3)|pancreas(1)|lung(1)|breast(1)|skin(1) 7 GAAAATAAAAGAATTTTCCTT 0.378 NaN 0 0 0 1 0 5 27 ZBTB38 253461 broad.mit.edu 37 3 141161785 141161785 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:141161785G>C uc003etw.2 + 8 1537 c.555G>C c.(553-555)TTG>TTC p.L185F ZBTB38_uc010hun.2_Missense_Mutation_p.L182F|ZBTB38_uc010huo.2_Missense_Mutation_p.L185F|ZBTB38_uc003ety.2_Missense_Mutation_p.L185F|ZBTB38_uc010hup.2_Missense_Mutation_p.L186F NM_001080412 NP_001073881 Q8NAP3 ZBT38_HUMAN zinc finger and BTB domain containing 38 185 positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 CGCTGGACTTGAGGGCAAGTT 0.498 NaN 0 0 0 1 0 24 122 RASA2 5922 broad.mit.edu 37 3 141272699 141272699 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:141272699C>T uc003etz.1 + 6 528 c.528C>T c.(526-528)CAC>CAT p.H176H RASA2_uc010huq.1_Silent_p.H176H|RASA2_uc003eua.1_Silent_p.H176H|RASA2_uc011bnc.1_5'UTR NM_006506 NP_006497 Q15283 RASA2_HUMAN RAS p21 protein activator 2 176 C2 2. intracellular signal transduction|negative regulation of Ras protein signal transduction intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm metal ion binding|Ras GTPase activator activity ovary(2)|lung(2)|breast(1)|skin(1) 6 TCTACCTTAGCATCAAGGCAT 0.333 NaN 0 0 0 1 0 19 62 RASA2 5922 broad.mit.edu 37 3 141328358 141328358 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:141328358G>A uc003etz.1 + 22 2322 c.2322G>A c.(2320-2322)AAG>AAA p.K774K RASA2_uc010huq.1_Silent_p.K778K|RASA2_uc003eua.1_Silent_p.K775K NM_006506 NP_006497 Q15283 RASA2_HUMAN RAS p21 protein activator 2 774 intracellular signal transduction|negative regulation of Ras protein signal transduction intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm metal ion binding|Ras GTPase activator activity p.K774R(1) ovary(2)|lung(2)|breast(1)|skin(1) 6 AGCTGCAGAAGATGGAAGGTA 0.313 NaN 0 0 0 1 0 16 27 PLSCR1 5359 broad.mit.edu 37 3 146234923 146234923 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:146234923C>T uc003evx.3 - 8 1158 c.770G>A c.(769-771)GGC>GAC p.G257D PLSCR1_uc003evy.3_Missense_Mutation_p.G250D|PLSCR1_uc011bnn.1_Missense_Mutation_p.G176D|PLSCR1_uc003evz.3_RNA NM_021105 NP_066928 O15162 PLS1_HUMAN phospholipid scramblase 1 257 Cytoplasmic. phospholipid scrambling|platelet activation|response to virus integral to membrane|plasma membrane calcium ion binding|phospholipid scramblase activity|SH3 domain binding ovary(2) 2 GGAAATTTTGCCAACCACACA 0.318 NaN 0 0 0 1 0 4 68 HPS3 84343 broad.mit.edu 37 3 148871318 148871318 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:148871318G>C uc003ewu.1 + 7 1423 c.1283G>C c.(1282-1284)AGA>ACA p.R428T HPS3_uc003ewt.1_Missense_Mutation_p.R428T|HPS3_uc011bnq.1_Missense_Mutation_p.R263T NM_032383 NP_115759 Q969F9 HPS3_HUMAN Hermansky-Pudlak syndrome 3 protein 428 cytoplasm ovary(5)|large_intestine(1) 6 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) TGTGCTTTAAGAATACAGCTT 0.378 NaN Hermansky-Pudlak_syndrome 0 0 0 1 0 28 61 TM4SF4 7104 broad.mit.edu 37 3 149205479 149205479 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:149205479C>T uc003exd.1 + 3 569 c.338C>T c.(337-339)TCA>TTA p.S113L NM_004617 NP_004608 P48230 T4S4_HUMAN transmembrane 4 superfamily member 4 113 Helical; (Potential). integral to membrane 0 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) TCAGCCATTTCAATCAACAAG 0.502 NaN 0 0 0 1 0 19 62 RNF13 11342 broad.mit.edu 37 3 149678634 149678634 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:149678634G>A uc003exn.3 + 11 1673 c.889G>A c.(889-891)GAC>AAC p.D297N RNF13_uc003exp.3_Missense_Mutation_p.D297N|RNF13_uc010hvh.2_Missense_Mutation_p.D178N NM_007282 NP_009213 O43567 RNF13_HUMAN ring finger protein 13 297 Cytoplasmic (Potential). protein autoubiquitination endoplasmic reticulum membrane|Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane|nuclear inner membrane ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255) LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) CTCTGACACAGACAGTAGTCA 0.448 NaN 0 0 0 1 0 20 61 TSC22D2 9819 broad.mit.edu 37 3 150127514 150127514 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:150127514C>G uc003exv.2 + 1 727 c.377C>G c.(376-378)ACT>AGT p.T126S TSC22D2_uc003exw.2_RNA|TSC22D2_uc003exx.2_Missense_Mutation_p.T126S NM_014779 NP_055594 O75157 T22D2_HUMAN TSC22 domain family, member 2 126 sequence-specific DNA binding transcription factor activity ovary(1) 1 LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) GCGGCTGCCACTTCGGCCCCC 0.741 NaN 0 0 0 1 0 23 47 MED12L 116931 broad.mit.edu 37 3 150840608 150840608 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:150840608G>A uc003eyp.2 + 3 281 c.243G>A c.(241-243)CTG>CTA p.L81L MED12L_uc011bnz.1_Silent_p.L81L|MED12L_uc003eym.1_Silent_p.L81L|MED12L_uc003eyn.2_Silent_p.L81L|MED12L_uc003eyo.2_Silent_p.L81L NM_053002 NP_443728 Q86YW9 MD12L_HUMAN mediator of RNA polymerase II transcription, 81 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1) 7 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CTGAGAAACTGAAGCTTAACA 0.378 NaN 0 0 0 1 0 4 28 MED12L 116931 broad.mit.edu 37 3 150840663 150840663 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:150840663G>C uc003eyp.2 + 3 336 c.298G>C c.(298-300)GAT>CAT p.D100H MED12L_uc011bnz.1_Missense_Mutation_p.D100H|MED12L_uc003eym.1_Missense_Mutation_p.D100H|MED12L_uc003eyn.2_Missense_Mutation_p.D100H|MED12L_uc003eyo.2_Missense_Mutation_p.D100H NM_053002 NP_443728 Q86YW9 MD12L_HUMAN mediator of RNA polymerase II transcription, 100 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1) 7 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TAATGCTAAAGATAATTATTG 0.388 NaN 0 0 0 1 0 4 19 IGSF10 285313 broad.mit.edu 37 3 151165065 151165065 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:151165065C>T uc011bod.1 - 4 2704 c.2704G>A c.(2704-2706)GAA>AAA p.E902K NM_178822 NP_849144 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 precursor 902 cell differentiation|multicellular organismal development|ossification extracellular region skin(7)|ovary(5)|central_nervous_system(1) 13 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TCCTGAAATTCAGTTGCTCCA 0.413 NaN 0 0 0 1 0 74 251 DHX36 170506 broad.mit.edu 37 3 154002700 154002700 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:154002700C>T uc003ezy.3 - 18 2189 c.2108G>A c.(2107-2109)GGA>GAA p.G703E DHX36_uc010hvq.2_Missense_Mutation_p.G689E|DHX36_uc003ezz.3_Missense_Mutation_p.G703E NM_020865 NP_065916 Q9H2U1 DHX36_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 36 703 cytoplasm|nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding skin(1) 1 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) AATCATTTTTCCAATATGTGG 0.418 NaN 0 0 0 1 0 22 57 MME 4311 broad.mit.edu 37 3 154862187 154862187 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:154862187C>G uc010hvr.1 + 14 1568 c.1357C>G c.(1357-1359)CAG>GAG p.Q453E MME_uc003fab.1_Missense_Mutation_p.Q453E|MME_uc003fac.1_Missense_Mutation_p.Q453E|MME_uc003fad.1_Missense_Mutation_p.Q453E|MME_uc003fae.1_Missense_Mutation_p.Q453E NM_007289 NP_009220 P08473 NEP_HUMAN membrane metallo-endopeptidase 453 Extracellular (Potential). cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding ovary(2)|central_nervous_system(1) 3 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) AGTTTTTATTCAGACTTTAGA 0.363 NaN 0 0 0 1 0 8 32 SLC33A1 9197 broad.mit.edu 37 3 155571672 155571672 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:155571672G>A uc003fan.3 - 1 496 c.115C>T c.(115-117)CAT>TAT p.H39Y SLC33A1_uc003fao.1_Missense_Mutation_p.H39Y NM_004733 NP_004724 O00400 ACATN_HUMAN acetyl-coenzyme A transporter 39 Cytoplasmic (Potential). cell death|transmembrane transport endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction acetyl-CoA transporter activity ovary(2)|large_intestine(1)|pancreas(1) 4 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) GAGTCCAAATGACTGTCATCC 0.612 NaN 0 0 0 1 0 22 59 SSR3 6747 broad.mit.edu 37 3 156271470 156271470 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:156271470C>T uc003fau.2 - 2 291 c.234G>A c.(232-234)AAG>AAA p.K78K SSR3_uc011bop.1_Silent_p.K78K NM_007107 NP_009038 Q9UNL2 SSRG_HUMAN signal sequence receptor gamma subunit 78 Lumenal (Potential). cotranslational protein targeting to membrane integral to endoplasmic reticulum membrane|microsome|Sec61 translocon complex protein binding|signal sequence binding 0 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) ATTTCACATTCTTGTATGCAA 0.333 NaN 0 0 0 1 0 10 37 SMC4 10051 broad.mit.edu 37 3 160119741 160119741 + Missense_Mutation SNP G G A rs141249752 byFrequency TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:160119741G>A uc003fdh.2 + 3 291 c.178G>A c.(178-180)GAG>AAG p.E60K IFT80_uc003fda.2_Intron|IFT80_uc011boy.1_5'Flank|IFT80_uc003fdd.1_5'Flank|IFT80_uc003fde.1_5'Flank|SMC4_uc003fdf.1_RNA|SMC4_uc003fdg.1_Missense_Mutation_p.E60K|SMC4_uc010hwc.1_Intron|SMC4_uc003fdi.2_Intron|SMC4_uc003fdj.2_Missense_Mutation_p.E60K|SMC4_uc010hwd.2_Missense_Mutation_p.E60K|uc011boz.1_5'Flank|MIR15B_hsa-mir-15b|MI0000438_5'Flank|uc003fdk.2_5'Flank|MIR16-2_hsa-mir-16-2|MI0000115_5'Flank NM_001002800 NP_001002800 Q9NTJ3 SMC4_HUMAN SMC4 structural maintenance of chromosomes 60 cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus ATP binding|protein heterodimerization activity ovary(1)|breast(1) 2 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) AAGTTTAGAAGAGATTTTGAA 0.448 NaN 0 0 0 1 0 33 111 SI 6476 broad.mit.edu 37 3 164712184 164712184 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:164712184G>A uc003fei.2 - 41 4764 c.4702C>T c.(4702-4704)CCC>TCC p.P1568S NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 1568 Sucrase.|Lumenal. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) CAGGAAGCGGGATCTTGTCTC 0.299 NaN HNSCC(35;0.089) 0 0 0 1 0 21 54 SLITRK3 22865 broad.mit.edu 37 3 164907342 164907342 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:164907342G>A uc003fej.3 - 2 1721 c.1277C>T c.(1276-1278)TCT>TTT p.S426F SLITRK3_uc003fek.2_Missense_Mutation_p.S426F NM_014926 NP_055741 O94933 SLIK3_HUMAN slit and trk like 3 protein precursor 426 LRR 7.|Extracellular (Potential). integral to membrane ovary(6)|skin(3)|pancreas(1) 10 CCAAAAATCAGAACGGTATAT 0.388 NaN HNSCC(40;0.11) 0 0 0 1 0 11 38 SERPINI2 5276 broad.mit.edu 37 3 167159970 167159970 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:167159970G>A uc003fer.1 - 8 1203 c.1145C>T c.(1144-1146)TCA>TTA p.S382L SERPINI2_uc003fes.1_Missense_Mutation_p.S392L|SERPINI2_uc003fet.1_Missense_Mutation_p.S382L NM_006217 NP_006208 O75830 SPI2_HUMAN serpin peptidase inhibitor, clade I (pancpin), 382 cellular component movement|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity skin(2)|urinary_tract(1) 3 AAACAGAATTGATTCTAGGGA 0.313 NaN 0 0 0 1 0 7 15 PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A rs104886003 TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 G A G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:178936091G>A uc003fjk.2 + 10 1790 c.1633G>A c.(1633-1635)GAG>AAG p.E545K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 545 PI3K helical. E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TGAAATCACTGAGCAGGAGAA 0.353 E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 0 0 0 1 0 10 32 ZNF639 51193 broad.mit.edu 37 3 179050806 179050806 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:179050806G>A uc003fjq.1 + 5 542 c.199G>A c.(199-201)GAC>AAC p.D67N ZNF639_uc003fjr.1_Missense_Mutation_p.D67N NM_016331 NP_057415 Q9UID6 ZN639_HUMAN zinc finger protein 639 67 initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent nucleus protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding 0 all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923) gacgtcaaatgacttgccaaa 0.05 NaN 0 0 0 1 0 2 1 ACTL6A 86 broad.mit.edu 37 3 179291249 179291249 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:179291249G>C uc003fjw.2 + 4 543 c.370G>C c.(370-372)GAG>CAG p.E124Q ACTL6A_uc003fjx.2_Missense_Mutation_p.E82Q|ACTL6A_uc003fjy.2_Missense_Mutation_p.E82Q NM_004301 NP_004292 O96019 ACL6A_HUMAN actin-like 6A isoform 1 124 chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex ATP binding|chromatin binding ovary(1) 1 all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191) OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169) TCTCATGTCAGAGGCACCGGT 0.323 NaN 0 0 0 1 0 19 42 PEX5L 51555 broad.mit.edu 37 3 179533669 179533669 + Nonsense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:179533669G>A uc003fki.1 - 10 1193 c.1063C>T c.(1063-1065)CAG>TAG p.Q355* PEX5L_uc011bqd.1_Nonsense_Mutation_p.Q312*|PEX5L_uc011bqe.1_Nonsense_Mutation_p.Q163*|PEX5L_uc011bqf.1_Nonsense_Mutation_p.Q247*|PEX5L_uc003fkj.1_Nonsense_Mutation_p.Q320*|PEX5L_uc010hxd.1_Nonsense_Mutation_p.Q353*|PEX5L_uc011bqg.1_Nonsense_Mutation_p.Q331*|PEX5L_uc011bqh.1_Nonsense_Mutation_p.Q296* NM_016559 NP_057643 Q8IYB4 PEX5R_HUMAN peroxisomal biogenesis factor 5-like 355 protein import into peroxisome matrix|regulation of cAMP-mediated signaling cytosol|peroxisomal membrane peroxisome matrix targeting signal-1 binding ovary(3)|large_intestine(1) 4 all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183) OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518) CCAGGGTCCTGAAGAATTGCT 0.507 NaN 0 0 0 1 0 20 68 TTC14 151613 broad.mit.edu 37 3 180322650 180322650 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:180322650G>A uc003fkk.2 + 6 844 c.712G>A c.(712-714)GAG>AAG p.E238K TTC14_uc003fkl.2_Missense_Mutation_p.E238K|TTC14_uc003fkm.2_Missense_Mutation_p.E238K NM_133462 NP_597719 Q96N46 TTC14_HUMAN tetratricopeptide repeat domain 14 isoform a 238 TPR 1. RNA binding ovary(1) 1 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) GAGAAGTGTTGAGCTAAATAG 0.303 NaN 0 0 0 1 0 4 26 DCUN1D1 54165 broad.mit.edu 37 3 182683333 182683333 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:182683333C>G uc003fld.1 - 2 261 c.212G>C c.(211-213)AGA>ACA p.R71T DCUN1D1_uc011bqn.1_5'UTR NM_020640 NP_065691 Q96GG9 DCNL1_HUMAN RP42 homolog 71 DCUN1. ubiquitin ligase complex protein binding ovary(1) 1 all_cancers(143;9.04e-15)|Ovarian(172;0.0355) all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) ACCTTTGTATCTATTGTACAG 0.328 NaN 0 0 0 1 0 5 11 B3GNT5 84002 broad.mit.edu 37 3 182987774 182987774 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:182987774C>T uc003flk.2 + 2 718 c.188C>T c.(187-189)TCT>TTT p.S63F MCF2L2_uc003fli.1_Intron|MCF2L2_uc003flj.1_Intron|MCF2L2_uc011bqr.1_Intron|B3GNT5_uc003fll.2_Missense_Mutation_p.S63F|B3GNT5_uc003flm.2_Missense_Mutation_p.S63F NM_032047 NP_114436 Q9BYG0 B3GN5_HUMAN UDP-GlcNAc:betaGal 63 Lumenal (Potential). central nervous system development|glycolipid biosynthetic process|protein glycosylation Golgi membrane|integral to membrane beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity ovary(1) 1 all_cancers(143;8.52e-13)|Ovarian(172;0.0355) all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) GATACCCTGTCTCTTAAGCAC 0.393 NaN 0 0 0 1 0 24 83 B3GNT5 84002 broad.mit.edu 37 3 182987776 182987776 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:182987776C>T uc003flk.2 + 2 720 c.190C>T c.(190-192)CTT>TTT p.L64F MCF2L2_uc003fli.1_Intron|MCF2L2_uc003flj.1_Intron|MCF2L2_uc011bqr.1_Intron|B3GNT5_uc003fll.2_Missense_Mutation_p.L64F|B3GNT5_uc003flm.2_Missense_Mutation_p.L64F NM_032047 NP_114436 Q9BYG0 B3GN5_HUMAN UDP-GlcNAc:betaGal 64 Lumenal (Potential). central nervous system development|glycolipid biosynthetic process|protein glycosylation Golgi membrane|integral to membrane beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity ovary(1) 1 all_cancers(143;8.52e-13)|Ovarian(172;0.0355) all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) TACCCTGTCTCTTAAGCACAC 0.403 NaN 0 0 0 1 0 24 83 HTR3E 285242 broad.mit.edu 37 3 183823613 183823613 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:183823613C>G uc010hxq.2 + 7 1247 c.781C>G c.(781-783)CTG>GTG p.L261V HTR3E_uc003fml.3_Missense_Mutation_p.L246V|HTR3E_uc003fmm.2_Missense_Mutation_p.L276V|HTR3E_uc010hxr.2_Missense_Mutation_p.L287V|HTR3E_uc003fmn.2_Missense_Mutation_p.L261V NM_182589 NP_872395 A5X5Y0 5HT3E_HUMAN 5-hydroxytryptamine receptor 3 subunit E 261 Helical; Name=1; (Potential). integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_cancers(143;1.46e-10)|Ovarian(172;0.0303) Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) CAGTGGCTTTCTGGTTGCCAT 0.547 NaN 0 0 0 1 0 29 113 EIF4G1 1981 broad.mit.edu 37 3 184043095 184043095 + Silent SNP C C A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:184043095C>A uc003fnp.2 + 19 3093 c.2895C>A c.(2893-2895)ATC>ATA p.I965I EIF4G1_uc003fno.1_Silent_p.I906I|EIF4G1_uc010hxw.1_Silent_p.I801I|EIF4G1_uc003fnt.2_Silent_p.I676I|EIF4G1_uc003fnq.2_Silent_p.I878I|EIF4G1_uc003fnr.2_Silent_p.I801I|EIF4G1_uc010hxx.2_Silent_p.I972I|EIF4G1_uc003fns.2_Silent_p.I925I|EIF4G1_uc010hxy.2_Silent_p.I972I|EIF4G1_uc003fnv.3_Silent_p.I966I|EIF4G1_uc003fnu.3_Silent_p.I965I|EIF4G1_uc003fnw.2_Silent_p.I972I|EIF4G1_uc003fnx.2_Silent_p.I770I|EIF4G1_uc003fny.3_Silent_p.I769I|SNORD66_uc003fnz.2_5'Flank NM_198241 NP_937884 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 965 eIF3/EIF4A-binding. insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TGGAAAAAATCATTAAAGAAA 0.532 NaN 1 0 3.67414e-24 1 3.91955e-24 35 113 MAP3K13 9175 broad.mit.edu 37 3 185146691 185146691 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:185146691G>C uc010hyf.2 + 3 588 c.322G>C c.(322-324)GAG>CAG p.E108Q MAP3K13_uc011brt.1_Intron|MAP3K13_uc003fph.3_5'UTR|MAP3K13_uc011bru.1_Intron|MAP3K13_uc003fpi.2_Missense_Mutation_p.E108Q|MAP3K13_uc010hyg.2_5'UTR NM_004721 NP_004712 O43283 M3K13_HUMAN mitogen-activated protein kinase kinase kinase 108 activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation cytoplasm|membrane|membrane fraction ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding ovary(2)|skin(1) 3 all_cancers(143;7.21e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GGTGGACGGAGAGAGCACAAG 0.517 NaN 0 0 0 1 0 25 45 CLDN16 10686 broad.mit.edu 37 3 190105989 190105989 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:190105989G>A uc003fsi.2 + 1 149 c.81G>A c.(79-81)GTG>GTA p.V27V CLDN16_uc010hze.2_Silent_p.V27V NM_006580 NP_006571 Q9Y5I7 CLD16_HUMAN claudin 16 27 Cytoplasmic (Potential). calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion integral to membrane|tight junction identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity ovary(1) 1 all_cancers(143;3.61e-10)|Ovarian(172;0.0991) Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05) GBM - Glioblastoma multiforme(93;0.018) AGCAGGGCGTGAGAAAAAGTA 0.502 NaN 0 0 0 1 0 7 47 HES1 3280 broad.mit.edu 37 3 193855564 193855564 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:193855564G>C uc003ftq.1 + 4 621 c.385G>C c.(385-387)GAG>CAG p.E129Q NM_005524 NP_005515 Q14469 HES1_HUMAN hairy and enhancer of split 1 129 Orange. endocrine pancreas development|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway nucleus histone deacetylase binding|sequence-specific DNA binding transcription factor activity ovary(1)|lung(1) 2 all_cancers(143;7.3e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;1.48e-05) GTCCACGTGCGAGGGCGTTAA 0.657 NaN 0 0 0 1 0 21 86 MUC4 4585 broad.mit.edu 37 3 195505851 195505851 + Silent SNP T T C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:195505851T>C uc011bto.1 - 3 12676 c.12216A>G c.(12214-12216)TCA>TCG p.S4072S MUC4_uc003fva.2_5'Flank|MUC4_uc003fvb.2_5'Flank|MUC4_uc003fvc.2_5'Flank|MUC4_uc003fvd.2_5'Flank|MUC4_uc003fve.2_5'Flank|MUC4_uc010hzr.2_5'Flank|MUC4_uc011btf.1_Intron|MUC4_uc011btg.1_Intron|MUC4_uc011bth.1_Intron|MUC4_uc011bti.1_Intron|MUC4_uc011btj.1_Intron|MUC4_uc011btk.1_Intron|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Intron|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a 963 Ser-rich. 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) CTGTGGATGCTGAGGAAGTGT 0.592 NaN 0 0 0 1 0 2 2 RNF168 165918 broad.mit.edu 37 3 196199034 196199034 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:196199034C>T uc003fwq.2 - 6 1910 c.1372G>A c.(1372-1374)GAT>AAT p.D458N RNF168_uc010iah.2_Missense_Mutation_p.D291N|uc010iag.1_5'Flank NM_152617 NP_689830 Q8IYW5 RN168_HUMAN ring finger protein 168 458 MIU motif 2. double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation nucleus|ubiquitin ligase complex chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding 0 all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00348) TGCTCTTTATCCACCTCCTTC 0.438 NaN 0 0 0 1 0 47 118 ZNF732 654254 broad.mit.edu 37 4 265128 265128 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:265128C>T uc011buu.1 - 3 1529 c.1515G>A c.(1513-1515)GAG>GAA p.E505E ZNF732_uc010ibb.1_Intron NM_001137608 NP_001131080 B4DXR9 ZN732_HUMAN zinc finger protein 732 506 C2H2-type 14. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CTTTGCCACACTCTTCACATT 0.388 NaN 0 0 0 1 0 4 19 TMEM175 84286 broad.mit.edu 37 4 952220 952220 + Missense_Mutation SNP A A C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:952220A>C uc003gbq.2 + 11 1549 c.1451A>C c.(1450-1452)CAC>CCC p.H484P TMEM175_uc003gbr.2_Missense_Mutation_p.H402P|TMEM175_uc003gbu.2_Missense_Mutation_p.H402P|TMEM175_uc003gbs.2_Missense_Mutation_p.H367P|TMEM175_uc003gbt.2_Missense_Mutation_p.H367P|TMEM175_uc003gbv.2_Missense_Mutation_p.H367P|TMEM175_uc010ibm.2_Missense_Mutation_p.H300P NM_032326 NP_115702 Q9BSA9 TM175_HUMAN transmembrane protein 175 484 integral to membrane 0 OV - Ovarian serous cystadenocarcinoma(23;0.0158) CGGCCCGAACACCCCCCGCCA 0.736 NaN 0 0 0 1 0 7 20 MAEA 10296 broad.mit.edu 37 4 1305911 1305911 + Missense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:1305911G>T uc003gda.2 + 2 244 c.214G>T c.(214-216)GAC>TAC p.D72Y MAEA_uc010ibs.1_Missense_Mutation_p.D72Y|MAEA_uc003gdb.2_Missense_Mutation_p.D72Y|MAEA_uc011bvb.1_Missense_Mutation_p.D72Y|MAEA_uc003gdc.2_Missense_Mutation_p.D72Y|MAEA_uc003gdd.2_RNA|MAEA_uc011bvc.1_Missense_Mutation_p.D71Y|MAEA_uc011bvd.1_Missense_Mutation_p.D24Y NM_001017405 NP_001017405 Q7L5Y9 MAEA_HUMAN macrophage erythroblast attacher isoform 1 72 Extracellular and involved in cell to cell contact. cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle actin binding ovary(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(23;0.0201) CAGCCTGCTGGACGGCGTGGT 0.632 NaN 1 0 3.07112e-06 1 3.15306e-06 11 54 POLN 353497 broad.mit.edu 37 4 2172900 2172900 + Silent SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:2172900G>C uc003ger.2 - 10 1383 c.1383C>G c.(1381-1383)CTC>CTG p.L461L POLN_uc010ich.1_Silent_p.L52L|POLN_uc011bvi.1_Silent_p.L461L NM_181808 NP_861524 Q7Z5Q5 DPOLN_HUMAN DNA-directed DNA polymerase nu 461 DNA repair|DNA replication nucleus DNA binding|DNA-directed DNA polymerase activity kidney(2)|ovary(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(23;0.0955) CCAATTCCTTGAGACGAGCCT 0.348 NaN DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 0 0 0 1 0 16 73 HTT 3064 broad.mit.edu 37 4 3176447 3176447 + Splice_Site SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:3176447G>A uc011bvq.1 + 33 4318 c.4173_splice c.e33-1 p.G1391_splice NM_002111 NP_002102 P42858 HD_HUMAN huntingtin establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding skin(2)|ovary(1)|lung(1) 4 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) CCATTTGGCAGATGGTTTGAT 0.423 NaN 0 0 0 1 0 14 31 HTT 3064 broad.mit.edu 37 4 3213724 3213724 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:3213724G>A uc011bvq.1 + 49 6634 c.6489G>A c.(6487-6489)AAG>AAA p.K2163K NM_002111 NP_002102 P42858 HD_HUMAN huntingtin 2161 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding skin(2)|ovary(1)|lung(1) 4 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) GTGGCCAGAAGAGTGCCCTTT 0.532 NaN 0 0 0 1 0 26 94 DOK7 285489 broad.mit.edu 37 4 3494825 3494825 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:3494825C>T uc003ghd.2 + 7 1182 c.1112C>T c.(1111-1113)TCA>TTA p.S371L DOK7_uc003ghe.2_Missense_Mutation_p.S233L|DOK7_uc003ghf.2_Missense_Mutation_p.H113Y|DOK7_uc003ghg.1_Missense_Mutation_p.S61L NM_173660 NP_775931 Q18PE1 DOK7_HUMAN downstream of tyrosine kinase 7 isoform 1 371 positive regulation of protein tyrosine kinase activity cell junction|synapse insulin receptor binding|protein kinase binding skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) GAACTGGGCTCACTGCTCAGC 0.701 NaN 0 0 0 1 0 6 19 LYAR 55646 broad.mit.edu 37 4 4276349 4276349 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:4276349C>T uc011bvy.1 - 7 720 c.577G>A c.(577-579)GAA>AAA p.E193K LYAR_uc011bvx.1_Missense_Mutation_p.E76K|LYAR_uc003ght.2_Missense_Mutation_p.E193K NM_001145725 NP_001139197 Q9NX58 LYAR_HUMAN Ly1 antibody reactive homolog 193 Potential.|Lys-rich. nucleolus metal ion binding|protein binding 0 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) tgccgttcttcctttctttct 0.338 NaN 0 0 0 1 0 25 88 HTRA3 94031 broad.mit.edu 37 4 8293139 8293139 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:8293139C>T uc003gla.2 + 4 955 c.751C>T c.(751-753)CGG>TGG p.R251W HTRA3_uc003gkz.2_Missense_Mutation_p.R251W NM_053044 NP_444272 P83110 HTRA3_HUMAN HtrA serine peptidase 3 precursor 251 Serine protease. proteolysis|regulation of cell growth extracellular region insulin-like growth factor binding|serine-type endopeptidase activity ovary(1) 1 GGCCGACCTGCGGCCTGGGGA 0.612 NaN 0 0 0 1 0 22 105 SLC2A9 56606 broad.mit.edu 37 4 10027568 10027568 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:10027568C>T uc003gmd.2 - 2 182 c.23G>A c.(22-24)CGA>CAA p.R8Q NM_001001290 NP_001001290 Q9NRM0 GTR9_HUMAN solute carrier family 2, member 9 protein Error:Variant_position_missing_in_Q9NRM0_after_alignment glucose transport|urate metabolic process integral to membrane|plasma membrane sugar:hydrogen symporter activity ovary(3) 3 ATCTTCTCCTCGGTCCTTTTT 0.388 NaN 0 0 0 1 0 5 57 WDR1 9948 broad.mit.edu 37 4 10079487 10079487 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:10079487C>T uc003gmf.2 - 13 1742 c.1459G>A c.(1459-1461)GAG>AAG p.E487K WDR1_uc003gmg.2_Missense_Mutation_p.E347K|WDR1_uc010idm.2_RNA NM_017491 NP_059830 O75083 WDR1_HUMAN WD repeat-containing protein 1 isoform 1 487 WD 9. platelet activation|platelet degranulation|sensory perception of sound cytoskeleton|cytosol|extracellular region actin binding ovary(2)|pancreas(1) 3 STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232) CCCTTGGCCTCTAGGAGCTTG 0.642 NaN 0 0 0 1 0 7 26 ZNF518B 85460 broad.mit.edu 37 4 10446884 10446884 + Nonsense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:10446884G>A uc003gmn.2 - 3 1556 c.1069C>T c.(1069-1071)CAG>TAG p.Q357* NM_053042 NP_444270 Q9C0D4 Z518B_HUMAN zinc finger protein 518B 357 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|upper_aerodigestive_tract(1) 4 ACAAGCTGCTGTGTACCATTG 0.453 NaN 0 0 0 1 0 36 105 CC2D2A 57545 broad.mit.edu 37 4 15602891 15602891 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:15602891C>G uc010idv.2 + 38 4951 c.4706C>G c.(4705-4707)TCT>TGT p.S1569C CC2D2A_uc003gnx.2_Missense_Mutation_p.S1461C|CC2D2A_uc003gnz.1_RNA|CC2D2A_uc003goa.1_RNA NM_001080522 NP_001073991 Q9P2K1 C2D2A_HUMAN coiled-coil and C2 domain containing 2A isoform 1569 cell projection organization cilium|microtubule basal body pancreas(2)|ovary(1) 3 ATGCCTTATTCTGAAGTGAAG 0.333 NaN 0 0 0 1 0 6 14 LGI2 55203 broad.mit.edu 37 4 25005550 25005550 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:25005550G>A uc003grf.2 - 8 1260 c.1161C>T c.(1159-1161)CTC>CTT p.L387L NM_018176 NP_060646 Q8N0V4 LGI2_HUMAN leucine-rich repeat LGI family, member 2 387 EAR 4. extracellular region 0 Breast(46;0.173) TGGACAGGATGAGATGCGATT 0.493 NaN 0 0 0 1 0 42 123 ANAPC4 29945 broad.mit.edu 37 4 25419344 25419344 + Nonsense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:25419344C>T uc003gro.2 + 28 2311 c.2182C>T c.(2182-2184)CGA>TGA p.R728* ANAPC4_uc003grp.2_Nonsense_Mutation_p.R614*|ANAPC4_uc003grq.2_Nonsense_Mutation_p.R181* NM_013367 NP_037499 Q9UJX5 APC4_HUMAN anaphase-promoting complex subunit 4 728 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm protein phosphatase binding|ubiquitin-protein ligase activity ovary(2)|large_intestine(1)|pancreas(1)|skin(1) 5 Breast(46;0.0503) GAATGGTTTTCGAAAAGTGTC 0.398 NaN 0 0 0 1 0 30 89 TLR6 10333 broad.mit.edu 37 4 38830852 38830852 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:38830852C>G uc003gtm.2 - 1 309 c.243G>C c.(241-243)TTG>TTC p.L81F TLR6_uc010ifg.1_Missense_Mutation_p.L81F NM_006068 NP_006059 Q9Y2C9 TLR6_HUMAN toll-like receptor 6 precursor 81 LRR 2.|Extracellular (Potential). activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway integral to plasma membrane|phagocytic vesicle membrane lipopeptide binding|transmembrane receptor activity ovary(2) 2 GGGAAAGTCTCAAAACTGTCA 0.373 NaN 0 0 0 1 0 14 49 RFC1 5981 broad.mit.edu 37 4 39318616 39318616 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:39318616C>G uc003gty.1 - 10 1256 c.1122G>C c.(1120-1122)AAG>AAC p.K374N RFC1_uc003gtx.1_Missense_Mutation_p.K374N NM_002913 NP_002904 P35251 RFC1_HUMAN replication factor C large subunit 374 DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding ovary(2)|pancreas(1)|skin(1) 4 TAGTGCGTTTCTTTTCAGAAT 0.378 NaN 0 0 0 1 0 15 31 GABRA4 2557 broad.mit.edu 37 4 46979555 46979555 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:46979555C>T uc003gxg.2 - 4 505 c.366G>A c.(364-366)ATG>ATA p.M122I NM_000809 NP_000800 P48169 GBRA4_HUMAN gamma-aminobutyric acid A receptor, alpha 4 122 Extracellular (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|upper_aerodigestive_tract(1)|breast(1) 4 Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TCGTTACCATCATATTGTTCA 0.363 NaN 0 0 0 1 0 16 43 ATP10D 57205 broad.mit.edu 37 4 47525165 47525165 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:47525165G>A uc003gxk.1 + 4 786 c.622G>A c.(622-624)GAG>AAG p.E208K ATP10D_uc003gxj.3_Missense_Mutation_p.E208K NM_020453 NP_065186 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 208 Cytoplasmic (Potential). ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|pancreas(1) 3 CTGTCACATTGAGACTTCTGG 0.458 NaN 0 0 0 1 0 13 50 TEC 7006 broad.mit.edu 37 4 48140806 48140806 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:48140806C>G uc003gxz.2 - 17 1779 c.1688G>C c.(1687-1689)AGA>ACA p.R563T NM_003215 NP_003206 P42680 TEC_HUMAN tec protein tyrosine kinase 563 Protein kinase. R -> K (in a lung adenocarcinoma sample; somatic mutation). intracellular protein kinase cascade cytosol ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding p.R563K(1) lung(4)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1) 9 AAAAGGCATTCTGCCTTCCGT 0.458 NaN 0 0 0 1 0 14 50 FIP1L1 81608 broad.mit.edu 37 4 54294335 54294335 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:54294335C>G uc003gzy.2 + 13 1345 c.1159C>G c.(1159-1161)CTG>GTG p.L387V PDGFRA_uc003haa.2_Intron|FIP1L1_uc003gzx.3_Missense_Mutation_p.L372V|FIP1L1_uc011bzt.1_Missense_Mutation_p.L351V|FIP1L1_uc011bzu.1_Missense_Mutation_p.L372V|FIP1L1_uc003gzz.2_Missense_Mutation_p.L313V|FIP1L1_uc003hab.2_Missense_Mutation_p.L352V|FIP1L1_uc003hac.2_Missense_Mutation_p.L132V|FIP1L1_uc010ign.2_RNA|FIP1L1_uc003had.2_5'UTR|FIP1L1_uc003hae.2_5'UTR NM_030917 NP_112179 Q6UN15 FIP1_HUMAN FIP1 like 1 isoform 1 387 Pro-rich. mRNA processing nucleus RNA binding ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134) TGCTCCACCTCTGATTCCACC 0.289 NaN T PDGFRA idiopathic hypereosinophilic syndrome 0 0 0 1 0 13 56 EPHA5 2044 broad.mit.edu 37 4 66218798 66218798 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:66218798C>G uc003hcy.2 - 13 2453 c.2260G>C c.(2260-2262)GAG>CAG p.E754Q EPHA5_uc003hcx.2_Missense_Mutation_p.E686Q|EPHA5_uc003hcz.2_Missense_Mutation_p.E732Q|EPHA5_uc011cah.1_Missense_Mutation_p.E755Q|EPHA5_uc011cai.1_Missense_Mutation_p.E733Q|EPHA5_uc003hda.2_Missense_Mutation_p.E755Q NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor 754 Cytoplasmic (Potential).|Protein kinase. cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity lung(19)|stomach(2)|ovary(2)|central_nervous_system(1) 24 TCCATATACTCTGTCACGATC 0.358 NaN TSP Lung(17;0.13) 0 0 0 1 0 14 26 EPHA5 2044 broad.mit.edu 37 4 66231707 66231707 + Nonsense_Mutation SNP C C A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:66231707C>A uc003hcy.2 - 11 2186 c.1993G>T c.(1993-1995)GAA>TAA p.E665* EPHA5_uc003hcx.2_Nonsense_Mutation_p.E597*|EPHA5_uc003hcz.2_Nonsense_Mutation_p.E643*|EPHA5_uc011cah.1_Nonsense_Mutation_p.E666*|EPHA5_uc011cai.1_Nonsense_Mutation_p.E644*|EPHA5_uc003hda.2_Nonsense_Mutation_p.E666* NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor 665 Cytoplasmic (Potential). cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity lung(19)|stomach(2)|ovary(2)|central_nervous_system(1) 24 TTAGCAAATTCGTGGACAGCT 0.363 NaN TSP Lung(17;0.13) 1 0 1.2644e-06 1 1.30368e-06 21 66 GNRHR 2798 broad.mit.edu 37 4 68619556 68619556 + Silent SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:68619556G>T uc003hdn.2 - 1 2249 c.498C>A c.(496-498)CTC>CTA p.L166L LOC550112_uc003hdl.3_Intron|GNRHR_uc003hdm.2_Silent_p.L166L NM_000406 NP_000397 P30968 GNRHR_HUMAN gonadotropin-releasing hormone receptor isoform 166 Helical; Name=4; (Potential). multicellular organismal development integral to plasma membrane gonadotropin-releasing hormone receptor activity ovary(1) 1 Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666) AGACACTACTGAGGATCCAGG 0.463 NaN 1 0 1.12685e-05 1 1.14925e-05 9 29 GC 2638 broad.mit.edu 37 4 72649680 72649680 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:72649680C>G uc003hge.2 - 1 209 c.56G>C c.(55-57)AGA>ACA p.R19T GC_uc010iie.2_Missense_Mutation_p.R19T|GC_uc010iif.2_Missense_Mutation_p.R38T NM_000583 NP_000574 P02774 VTDB_HUMAN vitamin D-binding protein precursor 19 Albumin 1. hormone biosynthetic process|vitamin D metabolic process cytosol|lysosomal lumen actin binding|vitamin D binding|vitamin transporter activity ovary(2)|upper_aerodigestive_tract(1) 3 all_hematologic(202;0.107) Lung(101;0.148) Cholecalciferol(DB00169) AATCTTACCTCTCTCTAAAGC 0.363 NaN 0 0 0 1 0 16 44 CXCL13 10563 broad.mit.edu 37 4 78528941 78528941 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:78528941G>A uc003hkr.2 + 3 227 c.149G>A c.(148-150)CGA>CAA p.R50Q NM_006419 NP_006410 O43927 CXL13_HUMAN chemokine (C-X-C motif) ligand 13 (B-cell 50 activation of Rap GTPase activity|B cell chemotaxis|cell-cell signaling|chronic inflammatory response|defense response to bacterium|elevation of cytosolic calcium ion concentration|endothelial cell chemotaxis to fibroblast growth factor|germinal center formation|lymphocyte chemotaxis across high endothelial venule|negative regulation of apoptosis|positive regulation of cell-cell adhesion mediated by integrin|positive regulation of integrin activation|positive regulation of T cell chemotaxis|regulation of angiogenesis|regulation of humoral immune response extracellular space|soluble fraction CCR10 chemokine receptor binding|chemokine activity|CXCR3 chemokine receptor binding|CXCR5 chemokine receptor binding|fibroblast growth factor 2 binding|heparin binding|protein heterodimerization activity|receptor agonist activity 0 TTCATTGATCGAATTCAAATC 0.393 NaN 0 0 0 1 0 21 66 CNOT6L 246175 broad.mit.edu 37 4 78695757 78695757 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:78695757G>A uc011ccd.1 - 3 372 c.241C>T c.(241-243)CTG>TTG p.L81L CNOT6L_uc003hks.2_Silent_p.L81L|CNOT6L_uc011cce.1_Silent_p.L81L NM_144571 NP_653172 Q96LI5 CNO6L_HUMAN CCR4-NOT transcription complex, subunit 6-like 81 LRR 2. nuclear-transcribed mRNA poly(A) tail shortening cytosol exonuclease activity|protein binding large_intestine(1) 1 AGGTAAACCAGATTATGAAGC 0.418 NaN 0 0 0 1 0 8 30 GK2 2712 broad.mit.edu 37 4 80328225 80328225 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:80328225C>G uc003hlu.2 - 1 1148 c.1130G>C c.(1129-1131)AGA>ACA p.R377T NM_033214 NP_149991 Q14410 GLPK2_HUMAN glycerol kinase 2 377 glycerol-3-phosphate metabolic process mitochondrial outer membrane ATP binding|glycerol kinase activity ovary(2)|skin(2) 4 GAGTATCCCTCTTGCACTGGG 0.428 NaN 0 0 0 1 0 27 107 PRKG2 5593 broad.mit.edu 37 4 82056420 82056420 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:82056420G>C uc003hmh.2 - 13 1679 c.1665C>G c.(1663-1665)TTC>TTG p.F555L PRKG2_uc011ccf.1_Missense_Mutation_p.F135L|PRKG2_uc011ccg.1_Missense_Mutation_p.F135L|PRKG2_uc011cch.1_Missense_Mutation_p.F526L NM_006259 NP_006250 Q13237 KGP2_HUMAN protein kinase, cGMP-dependent, type II 555 Protein kinase. platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1) 7 AAGCAACGCAGAATTTGGAGG 0.408 NaN 0 0 0 1 0 21 49 MAPK10 5602 broad.mit.edu 37 4 87023143 87023143 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:87023143C>T uc003hpq.2 - 6 535 c.468G>A c.(466-468)GTG>GTA p.V156V MAPK10_uc010ikg.2_Silent_p.V118V|MAPK10_uc003hpr.2_Silent_p.V118V|MAPK10_uc003hps.2_Silent_p.V156V|MAPK10_uc003hpt.2_Silent_p.V156V|MAPK10_uc003hpu.2_Silent_p.V156V|MAPK10_uc003hpv.2_Silent_p.V11V|MAPK10_uc010ikh.1_RNA|MAPK10_uc003hpn.2_5'Flank|MAPK10_uc003hpo.2_Silent_p.V11V|MAPK10_uc011ccw.1_Silent_p.V42V|MAPK10_uc003hpp.2_Silent_p.V11V NM_138982 NP_620448 P53779 MK10_HUMAN mitogen-activated protein kinase 10 isoform 2 156 Protein kinase. innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding stomach(1)|breast(1)|central_nervous_system(1) 3 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243) OV - Ovarian serous cystadenocarcinoma(123;0.002) CCATCTGAATCACTTGACATA 0.408 NaN 0 0 0 1 0 31 133 PTPN13 5783 broad.mit.edu 37 4 87622524 87622524 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:87622524C>G uc003hpz.2 + 7 1245 c.765C>G c.(763-765)TTC>TTG p.F255L PTPN13_uc003hpy.2_Missense_Mutation_p.F255L|PTPN13_uc003hqa.2_Missense_Mutation_p.F255L|PTPN13_uc003hqb.2_Missense_Mutation_p.F255L NM_080683 NP_542414 Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 255 cytoplasm|cytoskeleton|plasma membrane protein binding|protein binding|protein tyrosine phosphatase activity ovary(4)|breast(1)|kidney(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) AGAATTATTTCAAGGACATTT 0.378 NaN 0 0 0 1 0 5 15 SMARCAD1 56916 broad.mit.edu 37 4 95185963 95185963 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:95185963G>A uc003htc.3 + 10 1642 c.1387G>A c.(1387-1389)GAA>AAA p.E463K SMARCAD1_uc003htb.3_Missense_Mutation_p.E463K|SMARCAD1_uc003htd.3_Missense_Mutation_p.E463K|SMARCAD1_uc010ila.2_Missense_Mutation_p.E326K|SMARCAD1_uc011cdw.1_Missense_Mutation_p.E33K NM_020159 NP_064544 Q9H4L7 SMRCD_HUMAN SWI/SNF-related, matrix-associated 463 chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination nuclear matrix ATP binding|DNA binding|helicase activity skin(2)|ovary(1)|breast(1) 4 OV - Ovarian serous cystadenocarcinoma(123;4.33e-08) GAACAAATGTGAAGACATTTC 0.348 NaN 0 0 0 1 0 16 48 C4orf17 84103 broad.mit.edu 37 4 100434320 100434320 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:100434320C>G uc003huw.2 + 2 405 c.82C>G c.(82-84)CTA>GTA p.L28V C4orf17_uc003hux.2_RNA NM_032149 NP_115525 Q53FE4 CD017_HUMAN hypothetical protein LOC84103 28 0 OV - Ovarian serous cystadenocarcinoma(123;2.08e-08) AAGCTGCTTTCTAGTCAGGCA 0.458 NaN 0 0 0 1 0 22 97 SGMS2 166929 broad.mit.edu 37 4 108820810 108820810 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:108820810C>T uc003hyl.3 + 4 1090 c.535C>T c.(535-537)CTA>TTA p.L179L uc003hym.1_Intron|SGMS2_uc003hyn.2_Silent_p.L179L|SGMS2_uc003hyo.2_Silent_p.L179L NM_001136258 NP_001129730 Q8NHU3 SMS2_HUMAN sphingomyelin synthase 2 179 Helical; (Potential). sphingomyelin biosynthetic process integral to Golgi membrane|integral to plasma membrane ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity lung(1) 1 OV - Ovarian serous cystadenocarcinoma(123;2.95e-05) Choline(DB00122) TGTTACTACTCTACCTGTGCC 0.398 NaN 0 0 0 1 0 25 81 EGF 1950 broad.mit.edu 37 4 110932606 110932606 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:110932606C>G uc003hzy.3 + 24 4071 c.3619C>G c.(3619-3621)CAG>GAG p.Q1207E EGF_uc011cfu.1_Missense_Mutation_p.Q1165E|EGF_uc011cfv.1_Missense_Mutation_p.Q1166E|EGF_uc010imk.2_3'UTR NM_001963 NP_001954 P01133 EGF_HUMAN epidermal growth factor precursor 1207 Cytoplasmic (Potential). angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface integral to membrane|plasma membrane|platelet alpha granule lumen calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Hepatocellular(203;0.0893) OV - Ovarian serous cystadenocarcinoma(123;9.87e-06) Sulindac(DB00605) GGAGCTGACTCAGTGAAAACT 0.443 NaN 0 0 0 1 0 22 97 ELOVL6 79071 broad.mit.edu 37 4 110972518 110972518 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:110972518C>T uc003hzz.2 - 5 900 c.774G>A c.(772-774)ATG>ATA p.M258I ELOVL6_uc003iaa.2_Missense_Mutation_p.M258I NM_001130721 NP_001124193 Q9H5J4 ELOV6_HUMAN elongation of very long chain fatty acids-like 258 fatty acid elongation, saturated fatty acid|long-chain fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process fatty acid elongase activity|protein binding haematopoietic_and_lymphoid_tissue(1) 1 OV - Ovarian serous cystadenocarcinoma(123;0.00462) TTGTTTTCCTCATTTTGCCGA 0.428 NaN 0 0 0 1 0 17 65 C4orf21 55345 broad.mit.edu 37 4 113507724 113507724 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:113507724C>T uc003iau.2 - 13 4004 c.3793G>A c.(3793-3795)GAG>AAG p.E1265K C4orf21_uc003iav.2_RNA NM_018392 NP_060862 Q6ZU11 YD002_HUMAN prematurely terminated mRNA decay factor-like 87 integral to membrane zinc ion binding 0 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000676) AAGCACAGCTCAGAGCCACTT 0.353 NaN 0 0 0 1 0 7 47 TRPC3 7222 broad.mit.edu 37 4 122853555 122853555 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:122853555C>T uc003ieg.2 - 2 932 c.858G>A c.(856-858)TCG>TCA p.S286S TRPC3_uc010inr.2_Silent_p.S213S|TRPC3_uc003ief.2_Silent_p.S213S|TRPC3_uc011cgl.1_5'UTR NM_001130698 NP_001124170 Q13507 TRPC3_HUMAN transient receptor potential cation channel, 201 Cytoplasmic (Potential). axon guidance|phototransduction|platelet activation integral to plasma membrane protein binding|store-operated calcium channel activity ovary(2) 2 CATTGATCCTCGAGCGTGAGT 0.612 NaN 0 0 0 1 0 13 55 KIAA1109 84162 broad.mit.edu 37 4 123237989 123237989 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:123237989G>A uc003ieh.2 + 60 10687 c.10642G>A c.(10642-10644)GAA>AAA p.E3548K KIAA1109_uc003iel.1_Missense_Mutation_p.E1483K NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 3548 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 AGAACTGAATGAACAGGCCAA 0.313 NaN 0 0 0 1 0 13 52 FAT4 79633 broad.mit.edu 37 4 126238455 126238455 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:126238455C>G uc003ifj.3 + 1 889 c.889C>G c.(889-891)CAA>GAA p.Q297E NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 297 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 GACCCCCTTCCAAATGGACCC 0.662 NaN OREG0016317 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 1 0 17 63 FAT4 79633 broad.mit.edu 37 4 126370600 126370600 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:126370600C>G uc003ifj.3 + 9 8429 c.8429C>G c.(8428-8430)TCT>TGT p.S2810C FAT4_uc011cgp.1_Missense_Mutation_p.S1108C|FAT4_uc003ifi.1_Missense_Mutation_p.S288C NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 2810 Cadherin 27.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 AGTAGATATTCTATAATGGAT 0.388 NaN 0 0 0 1 0 18 63 NAA15 80155 broad.mit.edu 37 4 140297588 140297588 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:140297588G>A uc003ihu.1 + 16 2273 c.2017G>A c.(2017-2019)GAG>AAG p.E673K NM_057175 NP_476516 Q9BXJ9 NAA15_HUMAN NMDA receptor regulated 1 673 TPR 8. angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|transcription factor complex protein binding ovary(1)|skin(1) 2 GAACAAGATAGAGACTCATCT 0.338 NaN 0 0 0 1 0 18 44 MAML3 55534 broad.mit.edu 37 4 140811578 140811578 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:140811578C>G uc003ihz.1 - 2 1764 c.1012G>C c.(1012-1014)GAG>CAG p.E338Q MAML3_uc011chd.1_Intron NM_018717 NP_061187 Q96JK9 MAML3_HUMAN mastermind-like 3 338 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity ovary(1) 1 all_hematologic(180;0.162) AATTCTGGCTCCTTCTTCTCT 0.512 NaN 0 0 0 1 0 18 56 TBC1D9 23158 broad.mit.edu 37 4 141545369 141545369 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:141545369C>G uc010ioj.2 - 20 3251 c.2979G>C c.(2977-2979)AAG>AAC p.K993N NM_015130 NP_055945 Q6ZT07 TBCD9_HUMAN TBC1 domain family, member 9 (with GRAM domain) 993 intracellular calcium ion binding|Rab GTPase activator activity ovary(1) 1 all_hematologic(180;0.162) Medulloblastoma(177;0.00498) AATTTGCTCTCTTCCCTACAA 0.353 NaN 0 0 0 1 0 5 10 OTUD4 54726 broad.mit.edu 37 4 146077090 146077090 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:146077090C>T uc003ika.3 - 8 631 c.493G>A c.(493-495)GAG>AAG p.E165K OTUD4_uc003ijz.3_Missense_Mutation_p.E165K NM_001102653 NP_001096123 Q01804 OTUD4_HUMAN OTU domain containing 4 protein isoform 3 230 E -> EQ (in Ref. 1; BAG63836, 3; EAX05045/EAX05046 and 7; AAI18573/ AAI18654). protein binding ovary(2)|breast(1) 3 all_hematologic(180;0.151) AAAAATACCTCATTGCCTGAC 0.308 NaN 0 0 0 1 0 7 33 SH3D19 152503 broad.mit.edu 37 4 152096430 152096430 + Nonsense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:152096430G>C uc010ipl.1 - 7 1176 c.86C>G c.(85-87)TCA>TGA p.S29* SH3D19_uc003imc.2_Nonsense_Mutation_p.S29*|SH3D19_uc003ime.2_Nonsense_Mutation_p.S29*|SH3D19_uc010ipm.2_Nonsense_Mutation_p.S29* NM_001009555 NP_001009555 Q5HYK7 SH319_HUMAN SH3 domain containing 19 isoform a 29 cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport cytosol|Golgi apparatus|nucleus|plasma membrane proline-rich region binding ovary(1)|skin(1) 2 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.138) GGGCAGTCCTGAGGTTTCTAT 0.433 NaN 0 0 0 1 0 38 122 FHDC1 85462 broad.mit.edu 37 4 153897464 153897464 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:153897464C>T uc003inf.2 + 11 3096 c.3021C>T c.(3019-3021)TCC>TCT p.S1007S NM_033393 NP_203751 Q9C0D6 FHDC1_HUMAN FH2 domain containing 1 1007 actin cytoskeleton organization actin binding large_intestine(1)|ovary(1) 2 all_hematologic(180;0.093) GCGCCCACTCCGAGGGCCCTG 0.622 NaN 0 0 0 1 0 23 83 KIAA0922 23240 broad.mit.edu 37 4 154514972 154514972 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:154514972G>C uc003inm.3 + 19 1993 c.1941G>C c.(1939-1941)ATG>ATC p.M647I KIAA0922_uc010ipp.2_Missense_Mutation_p.M648I|KIAA0922_uc010ipq.2_Missense_Mutation_p.M416I NM_015196 NP_056011 A2VDJ0 T131L_HUMAN hypothetical protein LOC23240 isoform 2 647 Extracellular (Potential). integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 all_hematologic(180;0.093) Renal(120;0.118) ATATGCAGATGATTAATTTCA 0.373 NaN 0 0 0 1 0 8 36 TLR2 7097 broad.mit.edu 37 4 154625437 154625437 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:154625437G>C uc003inq.2 + 3 1597 c.1378G>C c.(1378-1380)GAA>CAA p.E460Q TLR2_uc003inr.2_Missense_Mutation_p.E460Q|TLR2_uc003ins.2_Missense_Mutation_p.E460Q NM_003264 NP_003255 O60603 TLR2_HUMAN toll-like receptor 2 precursor 460 LRR 12.|Extracellular (Potential). cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding ovary(1)|lung(1)|breast(1) 3 all_hematologic(180;0.093) Renal(120;0.117) CAAGACACTGGAAATTTTAGA 0.358 NaN 0 0 0 1 0 26 56 SFRP2 6423 broad.mit.edu 37 4 154702903 154702903 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:154702903C>T uc003inv.1 - 3 829 c.588G>A c.(586-588)CTG>CTA p.L196L NM_003013 NP_003004 Q96HF1 SFRP2_HUMAN secreted frizzled-related protein 2 precursor 196 NTR. brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development cytoplasm|extracellular matrix|extracellular space|plasma membrane fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding ovary(1)|central_nervous_system(1) 2 all_hematologic(180;0.093) Renal(120;0.117) CTTTTATTTTCAGTGCTATGA 0.458 NaN 0 0 0 1 0 30 98 DCHS2 54798 broad.mit.edu 37 4 155180751 155180751 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:155180751G>A uc003inw.2 - 20 5370 c.5370C>T c.(5368-5370)AGC>AGT p.S1790S NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 1790 Cadherin 16. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|pancreas(1) 4 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) CCTGGTAAATGCTTTGTTCAA 0.328 NaN 0 0 0 1 0 11 146 ADAM29 11086 broad.mit.edu 37 4 175898316 175898316 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:175898316C>T uc003iuc.2 + 5 2310 c.1640C>T c.(1639-1641)TCA>TTA p.S547L ADAM29_uc003iud.2_Missense_Mutation_p.S547L|ADAM29_uc010irr.2_Missense_Mutation_p.S547L|ADAM29_uc011cki.1_Missense_Mutation_p.S547L NM_014269 NP_055084 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 preproprotein 547 Cys-rich.|Extracellular (Potential). proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1) 16 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) TGTAATATCTCAGATGTCCAG 0.388 NaN 0 0 0 1 0 32 109 SLC6A19 340024 broad.mit.edu 37 5 1208934 1208934 + Silent SNP C C T rs146678323 byFrequency TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:1208934C>T uc003jbw.3 + 2 332 c.276C>T c.(274-276)ATC>ATT p.I92I NM_001003841 NP_001003841 Q695T7 S6A19_HUMAN solute carrier family 6, member 19 92 Cytoplasmic (Potential). cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity 0 all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10) Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) AGTTCGCCATCGGGCAGCGGC 0.667 NaN 0 0 0 1 0 36 82 IRX4 50805 broad.mit.edu 37 5 1879900 1879900 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:1879900C>T uc003jcz.2 - 4 573 c.454G>A c.(454-456)GAG>AAG p.E152K IRX4_uc011cmf.1_Missense_Mutation_p.E13K NM_016358 NP_057442 P78413 IRX4_HUMAN iroquois homeobox 4 152 Homeobox; TALE-type. heart development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 GBM - Glioblastoma multiforme(108;0.242) CTGGTGGTCTCGCGCGTGGCG 0.642 NaN 0 0 0 1 0 40 93 ADCY2 108 broad.mit.edu 37 5 7773074 7773074 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:7773074G>A uc003jdz.1 + 18 2311 c.2244G>A c.(2242-2244)CTG>CTA p.L748L ADCY2_uc011cmo.1_Silent_p.L568L NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 748 Helical; (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding ovary(5)|pancreas(1)|skin(1) 7 TTCTGGGACTGATATCCTGTT 0.463 NaN 0 0 0 1 0 41 116 SEMA5A 9037 broad.mit.edu 37 5 9136626 9136626 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:9136626G>C uc003jek.2 - 13 2301 c.1589C>G c.(1588-1590)TCT>TGT p.S530C NM_003966 NP_003957 Q13591 SEM5A_HUMAN semaphorin 5A precursor 530 Extracellular (Potential). cell adhesion|cell-cell signaling integral to membrane|plasma membrane ovary(1)|central_nervous_system(1) 2 CGGACACGCAGAGATGCTCTG 0.577 NaN 0 0 0 1 0 11 46 CDH6 1004 broad.mit.edu 37 5 31316392 31316392 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:31316392G>A uc003jhe.1 + 9 1794 c.1468G>A c.(1468-1470)GAG>AAG p.E490K CDH6_uc003jhd.1_Missense_Mutation_p.E490K NM_004932 NP_004923 P55285 CADH6_HUMAN cadherin 6, type 2 preproprotein 490 Extracellular (Potential).|Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding ovary(4)|skin(2)|large_intestine(1) 7 AGAATTTGCTGAGTTCTATGA 0.333 NaN 0 0 0 1 0 6 27 PDZD2 23037 broad.mit.edu 37 5 32093126 32093126 + Nonsense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:32093126C>G uc003jhl.2 + 21 8229 c.7841C>G c.(7840-7842)TCA>TGA p.S2614* PDZD2_uc003jhm.2_Nonsense_Mutation_p.S2614* NM_178140 NP_835260 O15018 PDZD2_HUMAN PDZ domain containing 2 2614 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1) 9 AAAGCACAATCAGAGGTGAGT 0.537 NaN OREG0016544 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 1 0 19 80 RXFP3 51289 broad.mit.edu 37 5 33937997 33937997 + Silent SNP C C A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:33937997C>A uc003jic.1 + 1 1509 c.1152C>A c.(1150-1152)CTC>CTA p.L384L NM_016568 NP_057652 Q9NSD7 RL3R1_HUMAN relaxin/insulin-like family peptide receptor 3 384 Cytoplasmic (Potential). integral to plasma membrane N-formyl peptide receptor activity upper_aerodigestive_tract(1) 1 ACAGCTGCCTCAACCCCGTCC 0.617 NaN 1 0 3.50607e-19 1 3.71915e-19 51 147 NIPBL 25836 broad.mit.edu 37 5 36953855 36953855 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:36953855C>T uc003jkl.3 + 2 556 c.57C>T c.(55-57)CTC>CTT p.L19L NIPBL_uc003jkk.3_Silent_p.L19L NM_133433 NP_597677 Q6KC79 NIPBL_HUMAN delangin isoform A 19 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1) 9 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) TTGCTAGTCTCACAGACCGTA 0.348 NaN 0 0 0 1 0 19 52 RICTOR 253260 broad.mit.edu 37 5 38966820 38966820 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:38966820G>C uc003jlp.2 - 15 1246 c.1222C>G c.(1222-1224)CTA>GTA p.L408V RICTOR_uc003jlo.2_Missense_Mutation_p.L408V|RICTOR_uc010ivf.2_Missense_Mutation_p.L123V NM_152756 NP_689969 Q6R327 RICTR_HUMAN rapamycin-insensitive companion of mTOR 408 actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation cytosol|TORC2 complex protein binding ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1) 10 all_lung(31;0.000396) ACTTCAACTAGACCCTTTGAA 0.274 NaN 0 0 0 1 0 8 19 FYB 2533 broad.mit.edu 37 5 39202544 39202544 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:39202544C>G uc003jls.2 - 1 586 c.519G>C c.(517-519)TTG>TTC p.L173F FYB_uc003jlt.2_Missense_Mutation_p.L173F|FYB_uc003jlu.2_Missense_Mutation_p.L173F|FYB_uc011cpl.1_Missense_Mutation_p.L183F NM_199335 NP_955367 O15117 FYB_HUMAN FYN binding protein (FYB-120/130) isoform 2 173 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) TAACCCCAGTCAATTTGGGAA 0.498 NaN 0 0 0 1 0 28 101 FGF10 2255 broad.mit.edu 37 5 44388630 44388630 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:44388630G>C uc003jog.1 - 1 155 c.155C>G c.(154-156)TCT>TGT p.S52C NM_004465 NP_004456 O15520 FGF10_HUMAN fibroblast growth factor 10 precursor 52 Poly-Ser. actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation cell surface|extracellular space|nucleus|plasma membrane chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding lung(3) 3 Lung NSC(6;1.12e-06) GGAGGAAGAAGAGTTGGTGGC 0.547 NaN 0 0 0 1 0 28 49 MRPS30 10884 broad.mit.edu 37 5 44811174 44811174 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:44811174G>A uc003joh.2 + 2 703 c.665G>A c.(664-666)CGA>CAA p.R222Q MRPS30_uc003joi.1_RNA NM_016640 NP_057724 Q9NP92 RT30_HUMAN mitochondrial ribosomal protein S30 222 apoptosis|translation mitochondrion|ribosome structural constituent of ribosome 0 Lung NSC(6;8.08e-07) CGTGGTCATCGAAGAGGTCGA 0.373 NaN 0 0 0 1 0 15 47 IL31RA 133396 broad.mit.edu 37 5 55206499 55206499 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:55206499C>T uc003jql.2 + 12 1706 c.1641C>T c.(1639-1641)TTC>TTT p.F547F IL31RA_uc003jqm.2_Silent_p.F515F|IL31RA_uc003jqn.2_Silent_p.F547F|IL31RA_uc010iwa.1_Silent_p.F510F|IL31RA_uc003jqo.2_Silent_p.F405F NM_139017 NP_620586 Q8NI17 IL31R_HUMAN gp130-like monocyte receptor 515 Extracellular (Potential). anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway integral to membrane|plasma membrane cytokine receptor activity|protein kinase binding|transcription coactivator activity ovary(1) 1 Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223) CATTGTCATTCAGTGAGTATT 0.463 NaN 0 0 0 1 0 34 106 IL6ST 3572 broad.mit.edu 37 5 55238517 55238517 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:55238517G>A uc003jqq.2 - 16 2255 c.2000C>T c.(1999-2001)TCA>TTA p.S667L IL6ST_uc010iwb.2_Missense_Mutation_p.S606L|IL6ST_uc010iwc.2_Missense_Mutation_p.H180Y|IL6ST_uc010iwd.2_5'UTR|IL6ST_uc011cqk.1_Missense_Mutation_p.S378L|IL6ST_uc003jqr.2_3'UTR NM_002184 NP_002175 P40189 IL6RB_HUMAN interleukin 6 signal transducer isoform 1 667 Cytoplasmic (Potential). interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity large_intestine(1)|ovary(1) 2 Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223) AGTGTGAGGTGACCACTGGGC 0.368 NaN O hepatocellular ca 0 0 0 1 0 10 34 ADAMTS6 11174 broad.mit.edu 37 5 64520832 64520832 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:64520832C>G uc003jtp.2 - 17 2924 c.2110G>C c.(2110-2112)GAT>CAT p.D704H ADAMTS6_uc003jto.2_RNA|ADAMTS6_uc003jtq.2_RNA|ADAMTS6_uc003jtr.1_Missense_Mutation_p.D325H NM_197941 NP_922932 Q9UKP5 ATS6_HUMAN ADAM metallopeptidase with thrombospondin type 1 704 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding 0 Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235) Lung(70;0.00942) CGACATCTATCTTCCCTAGCA 0.443 NaN 0 0 0 1 0 7 39 PPWD1 23398 broad.mit.edu 37 5 64863366 64863366 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:64863366G>C uc003jtv.3 + 2 230 c.223G>C c.(223-225)GAT>CAT p.D75H PPWD1_uc011cqv.1_Missense_Mutation_p.D45H|PPWD1_uc011cqw.1_Intron NM_015342 NP_056157 Q96BP3 PPWD1_HUMAN peptidylprolyl isomerase domain and WD repeat 75 protein folding catalytic step 2 spliceosome peptidyl-prolyl cis-trans isomerase activity ovary(1) 1 Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186) Lung(70;0.00451) AGTCTATCTTGATAATCTCCC 0.313 NaN 0 0 0 1 0 11 36 CDK7 1022 broad.mit.edu 37 5 68548244 68548244 + Splice_Site SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:68548244G>C uc003jvs.3 + 3 308 c.127_splice c.e3-1 p.I43_splice CDK7_uc010ixd.1_Splice_Site_p.I43_splice|CDK7_uc003jvt.3_Splice_Site_p.I2_splice|CDK7_uc003jvu.3_Splice_Site NM_001799 NP_001790 P50613 CDK7_HUMAN cyclin-dependent kinase 7 androgen receptor signaling pathway|cell division|cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction holo TFIIH complex|mitochondrion androgen receptor binding|ATP binding|cyclin-dependent protein kinase activity|DNA-dependent ATPase activity|protein C-terminus binding|RNA polymerase II carboxy-terminal domain kinase activity|transcription coactivator activity lung(1) 1 Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185) GTTTCTACCAGATCAAACTTG 0.259 NaN NER 0 0 0 1 0 32 116 POLK 51426 broad.mit.edu 37 5 74892360 74892360 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:74892360G>A uc003kdw.2 + 13 1938 c.1842G>A c.(1840-1842)GAG>GAA p.E614E POLK_uc003kdx.2_RNA|POLK_uc003kdy.2_RNA|POLK_uc010izq.2_Silent_p.E416E|POLK_uc003kec.2_Silent_p.E524E|POLK_uc010izr.2_RNA|POLK_uc010izs.2_RNA|POLK_uc003ked.2_Intron|POLK_uc003kee.2_Intron|POLK_uc003kef.2_Silent_p.E524E NM_016218 NP_057302 Q9UBT6 POLK_HUMAN DNA-directed DNA polymerase kappa 614 DNA replication|nucleotide-excision repair, DNA gap filling nucleus damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding ovary(2)|kidney(2) 4 all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42) AAATATCAGAGAATTCAGATG 0.368 NaN DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 0 0 0 1 0 18 103 DMGDH 29958 broad.mit.edu 37 5 78322343 78322343 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:78322343G>A uc003kfs.2 - 13 2100 c.2094C>T c.(2092-2094)ATC>ATT p.I698I DMGDH_uc011cte.1_Silent_p.I548I|DMGDH_uc011ctf.1_Silent_p.I497I|DMGDH_uc011ctg.1_Silent_p.I318I NM_013391 NP_037523 Q9UI17 M2GD_HUMAN dimethylglycine dehydrogenase precursor 698 choline metabolic process|glycine catabolic process mitochondrial matrix aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity ovary(2)|liver(1)|skin(1) 4 all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192) OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35) CTGCATTCATGATAGCGTCAT 0.512 NaN 0 0 0 1 0 22 74 MSH3 4437 broad.mit.edu 37 5 79970869 79970869 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:79970869C>T uc003kgz.2 + 7 1348 c.1095C>T c.(1093-1095)ACC>ACT p.T365T NM_002439 NP_002430 P20585 MSH3_HUMAN mutS homolog 3 365 maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding lung(2)|ovary(1)|breast(1) 4 Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244) OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33) ATACTTCTACCAGCTATCTTC 0.323 NaN MMR 0 0 0 1 0 22 65 CKMT2 1160 broad.mit.edu 37 5 80553673 80553673 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:80553673G>C uc003khc.3 + 8 1119 c.877G>C c.(877-879)GAA>CAA p.E293Q RNU5E_uc011cto.1_Intron|CKMT2_uc010jaq.2_Missense_Mutation_p.E293Q|CKMT2_uc003khd.3_Missense_Mutation_p.E293Q|uc003khe.1_Intron|uc003khf.1_Intron|uc003khg.1_Intron NM_001825 NP_001816 P17540 KCRS_HUMAN sarcomeric mitochondrial creatine kinase 293 Phosphagen kinase C-terminal. creatine metabolic process|muscle contraction mitochondrial inner membrane ATP binding|creatine kinase activity 0 Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336) OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34) Creatine(DB00148) TGGACTAAAAGAAGTAAGATG 0.358 NaN 0 0 0 1 0 8 33 SSBP2 23635 broad.mit.edu 37 5 80742738 80742738 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:80742738G>A uc003kho.2 - 12 938 c.727C>T c.(727-729)CCT>TCT p.P243S RNU5E_uc011cto.1_Intron|SSBP2_uc010jar.2_Missense_Mutation_p.P131S|SSBP2_uc003khn.2_Missense_Mutation_p.P117S|SSBP2_uc003khp.2_Missense_Mutation_p.P251S|SSBP2_uc011ctp.1_Missense_Mutation_p.P223S|SSBP2_uc011ctq.1_Missense_Mutation_p.P221S|SSBP2_uc011ctr.1_Missense_Mutation_p.P213S NM_012446 NP_036578 P81877 SSBP2_HUMAN single-stranded DNA binding protein 2 243 Gly-rich.|Pro-rich. regulation of transcription, DNA-dependent cytoplasm|nucleus single-stranded DNA binding SSBP2/JAK2(4) haematopoietic_and_lymphoid_tissue(4)|skin(1) 5 Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338) OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29) CCTCCTGGAGGACCCTAAATA 0.343 NaN 0 0 0 1 0 14 32 GPR98 84059 broad.mit.edu 37 5 89923556 89923556 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:89923556G>C uc003kju.2 + 7 1297 c.1201G>C c.(1201-1203)GAA>CAA p.E401Q GPR98_uc003kjt.2_5'UTR NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 401 Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TGTTTTGTTTGAAAGGACAGT 0.299 NaN 0 0 0 1 0 8 39 MCTP1 79772 broad.mit.edu 37 5 94278072 94278072 + Silent SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:94278072C>G uc003kkx.2 - 4 1041 c.1041G>C c.(1039-1041)CTG>CTC p.L347L MCTP1_uc003kkv.2_Silent_p.L126L|MCTP1_uc003kkw.2_Silent_p.L126L|MCTP1_uc003kkz.2_Silent_p.L8L NM_024717 NP_078993 Q6DN14 MCTP1_HUMAN multiple C2 domains, transmembrane 1 isoform L 347 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding ovary(2) 2 all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207) all cancers(79;9.1e-17) CCAATTGTGTCAGATCCAGAA 0.313 NaN 0 0 0 1 0 18 45 ARSK 153642 broad.mit.edu 37 5 94936565 94936565 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:94936565C>T uc003kld.2 + 7 1269 c.1111C>T c.(1111-1113)CCT>TCT p.P371S ARSK_uc010jbg.2_Missense_Mutation_p.P212S|ARSK_uc011cum.1_RNA NM_198150 NP_937793 Q6UWY0 ARSK_HUMAN arylsulfatase K precursor 371 extracellular region arylsulfatase activity|metal ion binding pancreas(1) 1 all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473) all cancers(79;6.5e-16) TGCTGGAATTCCTCTGCCTCA 0.333 NaN 0 0 0 1 0 20 69 ERAP2 64167 broad.mit.edu 37 5 96237258 96237258 + Missense_Mutation SNP T T G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:96237258T>G uc003kmq.2 + 11 2331 c.1621T>G c.(1621-1623)TGG>GGG p.W541G uc003kmo.1_Intron|ERAP2_uc003kmt.2_Missense_Mutation_p.W541G|ERAP2_uc003kmr.2_RNA|ERAP2_uc003kms.2_Missense_Mutation_p.W490G|ERAP2_uc003kmu.2_RNA NM_022350 NP_071745 Q6P179 ERAP2_HUMAN endoplasmic reticulum aminopeptidase 2 541 Lumenal (Potential). antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding 0 all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105) COAD - Colon adenocarcinoma(37;0.0703) GATGACTACATGGACTCTCCA 0.498 NaN 0 0 0 1 0 25 76 DCP2 167227 broad.mit.edu 37 5 112321592 112321592 + Missense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:112321592G>T uc003kqh.2 + 2 312 c.114G>T c.(112-114)CAG>CAT p.Q38H DCP2_uc011cwa.1_Intron NM_152624 NP_689837 Q8IU60 DCP2_HUMAN DCP2 decapping enzyme 38 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|protein binding|RNA binding 0 all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443) OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171) TGTGTTTTCAGATTGAACTTG 0.373 NaN 1 0 4.2108e-06 1 4.32054e-06 32 86 DMXL1 1657 broad.mit.edu 37 5 118500366 118500366 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:118500366G>C uc003ksd.2 + 20 5048 c.4867G>C c.(4867-4869)GAA>CAA p.E1623Q DMXL1_uc010jcl.1_Missense_Mutation_p.E1623Q NM_005509 NP_005500 Q9Y485 DMXL1_HUMAN Dmx-like 1 1623 ovary(2) 2 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) CAAATGCATAGAAAAAGTAAG 0.408 NaN 0 0 0 1 0 21 83 ZNF608 57507 broad.mit.edu 37 5 123982976 123982976 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:123982976G>C uc003ktq.1 - 4 3224 c.3101C>G c.(3100-3102)TCT>TGT p.S1034C ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Missense_Mutation_p.S1034C|ZNF608_uc003ktt.1_Missense_Mutation_p.S1034C|ZNF608_uc003ktp.1_5'Flank NM_020747 NP_065798 Q9ULD9 ZN608_HUMAN zinc finger protein 608 1034 intracellular zinc ion binding skin(3)|ovary(2)|lung(1) 6 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) ATCTTCCTCAGACTCCTTCTT 0.493 NaN 0 0 0 1 0 43 134 FNIP1 96459 broad.mit.edu 37 5 130982830 130982830 + Silent SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:130982830C>G uc003kvs.1 - 17 3517 c.3375G>C c.(3373-3375)CTG>CTC p.L1125L RAPGEF6_uc003kvp.1_Intron|FNIP1_uc003kvt.1_Silent_p.L1097L NM_133372 NP_588613 Q8TF40 FNIP1_HUMAN folliculin interacting protein 1 isoform 1 1125 regulation of protein phosphorylation cytoplasm protein binding pancreas(1)|skin(1) 2 all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0665) TCTGCCCCCTCAGGTATTCAG 0.468 NaN 0 0 0 1 0 34 128 FSTL4 23105 broad.mit.edu 37 5 132652162 132652162 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:132652162C>G uc003kyn.1 - 5 810 c.592G>C c.(592-594)GAA>CAA p.E198Q NM_015082 NP_055897 Q6MZW2 FSTL4_HUMAN follistatin-like 4 precursor 198 Potential.|EF-hand. extracellular region calcium ion binding central_nervous_system(1)|skin(1) 2 all_cancers(142;0.244) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TGAGCCAGTTCGGAGCTGCTG 0.557 NaN 0 0 0 1 0 17 73 SEC24A 10802 broad.mit.edu 37 5 134060783 134060783 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:134060783G>A uc003kzs.2 + 23 3569 c.3281G>A c.(3280-3282)TGA>TAA p.*1094* SEC24A_uc011cxu.1_Silent_p.*858* NM_021982 NP_068817 O95486 SC24A_HUMAN SEC24 related gene family, member A 1094 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GTGAATAAATGAATGAATGAA 0.308 NaN 0 0 0 1 0 6 18 CATSPER3 347732 broad.mit.edu 37 5 134346119 134346119 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:134346119G>C uc003lag.2 + 7 1061 c.993G>C c.(991-993)TTG>TTC p.L331F NM_178019 NP_821138 Q86XQ3 CTSR3_HUMAN cation channel, sperm associated 3 331 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|voltage-gated ion channel activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) AGAAGACCTTGAGCCACACTG 0.463 NaN 0 0 0 1 0 39 69 TIFAB 497189 broad.mit.edu 37 5 134785491 134785491 + Nonsense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:134785491G>A uc003law.3 - 2 340 c.139C>T c.(139-141)CAG>TAG p.Q47* C5orf20_uc003lav.2_5'Flank NM_001099221 NP_001092691 Q6ZNK6 TIFAB_HUMAN TIFA-related protein TIFAB 47 FHA. 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) AGCTGCAGCTGGAGGTGGGCG 0.672 NaN 0 0 0 1 0 27 75 SPOCK1 6695 broad.mit.edu 37 5 136403437 136403437 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:136403437G>A uc003lbo.2 - 5 747 c.556C>T c.(556-558)CCT>TCT p.P186S SPOCK1_uc003lbp.2_Missense_Mutation_p.P186S NM_004598 NP_004589 Q08629 TICN1_HUMAN sparc/osteonectin, cwcv and kazal-like domains 186 cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction proteinaceous extracellular matrix calcium ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GGTGGCTCAGGCTCTGGGAGA 0.547 NaN 0 0 0 1 0 37 92 MATR3 9782 broad.mit.edu 37 5 138643397 138643397 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:138643397C>T uc003ldu.2 + 5 720 c.293C>T c.(292-294)TCT>TTT p.S98F MATR3_uc003lds.2_Missense_Mutation_p.S98F|MATR3_uc010jfb.2_Missense_Mutation_p.S98F|MATR3_uc003ldt.2_Intron|MATR3_uc003ldw.2_Missense_Mutation_p.S98F|MATR3_uc003ldx.2_Missense_Mutation_p.S98F|MATR3_uc010jfc.2_Missense_Mutation_p.S98F|MATR3_uc003ldy.2_Intron|MATR3_uc011czb.1_Intron|MATR3_uc003ldz.2_Missense_Mutation_p.S98F|MATR3_uc003lea.2_Missense_Mutation_p.S98F NM_199189 NP_954659 P43243 MATR3_HUMAN matrin 3 98 nuclear inner membrane|nuclear matrix nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) CTCCCTTTATCTTCTCAACAC 0.443 NaN 0 0 0 1 0 24 77 ANKHD1-EIF4EBP3 404734 broad.mit.edu 37 5 139865267 139865267 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:139865267C>T uc003lfs.1 + 13 2216 c.2092C>T c.(2092-2094)CCC>TCC p.P698S ANKHD1_uc003lfq.1_Missense_Mutation_p.P717S|ANKHD1_uc003lfr.2_Missense_Mutation_p.P698S|ANKHD1_uc003lft.1_Missense_Mutation_p.P178S|ANKHD1_uc003lfu.1_Missense_Mutation_p.P178S|ANKHD1_uc003lfv.1_Missense_Mutation_p.P28S NM_020690 NP_065741 Q8IWZ2 Q8IWZ2_HUMAN ANKHD1-EIF4EBP3 protein 698 cytoplasm|nucleus RNA binding ovary(6) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCTGTCAGTTCCCACCACAGA 0.383 NaN 0 0 0 1 0 19 41 ANKHD1-EIF4EBP3 404734 broad.mit.edu 37 5 139907508 139907508 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:139907508G>A uc003lfs.1 + 28 5262 c.5138G>A c.(5137-5139)AGA>AAA p.R1713K ANKHD1_uc003lfr.2_Missense_Mutation_p.R1713K|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.R452K|ANKHD1_uc003lfw.2_Missense_Mutation_p.R351K|ANKHD1_uc010jfl.2_Missense_Mutation_p.R148K|ANKHD1-EIF4EBP3_uc003lfx.1_5'Flank NM_020690 NP_065741 Q8IWZ2 Q8IWZ2_HUMAN ANKHD1-EIF4EBP3 protein 1713 cytoplasm|nucleus RNA binding ovary(6) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATAATGGGAAGAGGAGGATGC 0.378 NaN 0 0 0 1 0 7 29 ANKHD1-EIF4EBP3 404734 broad.mit.edu 37 5 139907514 139907514 + Missense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:139907514G>T uc003lfs.1 + 28 5268 c.5144G>T c.(5143-5145)GGA>GTA p.G1715V ANKHD1_uc003lfr.2_Missense_Mutation_p.G1715V|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.G454V|ANKHD1_uc003lfw.2_Missense_Mutation_p.G353V|ANKHD1_uc010jfl.2_Missense_Mutation_p.G150V|ANKHD1-EIF4EBP3_uc003lfx.1_5'Flank NM_020690 NP_065741 Q8IWZ2 Q8IWZ2_HUMAN ANKHD1-EIF4EBP3 protein 1715 cytoplasm|nucleus RNA binding ovary(6) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGAAGAGGAGGATGCAACATC 0.378 NaN 1 0 0.000274275 1 0.00027772 8 29 ANKHD1-EIF4EBP3 404734 broad.mit.edu 37 5 139928595 139928595 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:139928595C>G uc003lfs.1 + 35 7908 c.7784C>G c.(7783-7785)TCC>TGC p.S2595C ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.S1351C|ANKHD1-EIF4EBP3_uc003lfx.1_Missense_Mutation_p.S740C|EIF4EBP3_uc003lfy.1_Missense_Mutation_p.P70A NM_020690 NP_065741 Q8IWZ2 Q8IWZ2_HUMAN ANKHD1-EIF4EBP3 protein 2595 cytoplasm|nucleus RNA binding ovary(6) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTCACAACTCCTCCAACAGC 0.567 NaN 0 0 0 1 0 9 41 PCDHA1 56147 broad.mit.edu 37 5 140166574 140166574 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:140166574C>T uc003lhb.2 + 1 699 c.699C>T c.(697-699)CTC>CTT p.L233L PCDHA1_uc003lha.2_Silent_p.L233L|PCDHA1_uc003lgz.2_Silent_p.L233L NM_018900 NP_061723 Q9Y5I3 PCDA1_HUMAN protocadherin alpha 1 isoform 1 precursor 233 Cadherin 2.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCACCGTCCTCGACGTTAATG 0.473 NaN 0 0 0 1 0 27 89 PCDHA1 56147 broad.mit.edu 37 5 140168060 140168060 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:140168060G>A uc003lhb.2 + 1 2185 c.2185G>A c.(2185-2187)GAG>AAG p.E729K PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lgz.2_Missense_Mutation_p.E729K NM_018900 NP_061723 Q9Y5I3 PCDA1_HUMAN protocadherin alpha 1 isoform 1 precursor 729 Cytoplasmic (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCGCCCACTGAGGGTGCGTA 0.642 NaN 0 0 0 1 0 24 75 PCDHA4 56144 broad.mit.edu 37 5 140188377 140188377 + Silent SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:140188377G>T uc003lhi.2 + 1 1706 c.1605G>T c.(1603-1605)GTG>GTT p.V535V PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Silent_p.V535V|PCDHA4_uc011daa.1_Silent_p.V535V NM_018907 NP_061730 Q9UN74 PCDA4_HUMAN protocadherin alpha 4 isoform 1 precursor 535 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(4)|skin(2) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGTTTCAGGTGACCGCTCGCG 0.652 NaN 1 0 2.66076e-39 1 2.84745e-39 59 106 PCDHA8 56140 broad.mit.edu 37 5 140220969 140220969 + Silent SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:140220969C>G uc003lhs.2 + 1 63 c.63C>G c.(61-63)CTC>CTG p.L21L PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Silent_p.L21L NM_018911 NP_061734 Q9Y5H6 PCDA8_HUMAN protocadherin alpha 8 isoform 1 precursor 21 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding upper_aerodigestive_tract(1)|ovary(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCTGCTCCTCGCAGCCTGGA 0.567 NaN 0 0 0 1 0 50 117 PCDHA11 56138 broad.mit.edu 37 5 140248873 140248873 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:140248873G>A uc003lia.2 + 1 1043 c.185G>A c.(184-186)CGC>CAC p.R62H PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.R62H NM_018902 NP_061725 Q9Y5I1 PCDAB_HUMAN protocadherin alpha 11 isoform 1 precursor 62 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGGTGCAGCGCCTGTTCCGG 0.617 NaN 0 0 0 1 0 65 257 PCDHA13 56136 broad.mit.edu 37 5 140262519 140262519 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:140262519G>A uc003lif.2 + 1 666 c.666G>A c.(664-666)CTG>CTA p.L222L PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Silent_p.L222L|PCDHA13_uc003lid.2_Silent_p.L222L NM_018904 NP_061727 Q9Y5I0 PCDAD_HUMAN protocadherin alpha 13 isoform 1 precursor 222 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|skin(2)|central_nervous_system(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AACCCGAGCTGACTGGCACAG 0.453 NaN 0 0 0 1 0 18 70 PCDHB8 56128 broad.mit.edu 37 5 140559962 140559962 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:140559962G>C uc011dai.1 + 1 2533 c.2347G>C c.(2347-2349)GAA>CAA p.E783Q PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank NM_019120 NP_061993 Q9UN66 PCDB8_HUMAN protocadherin beta 8 precursor 783 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTTTGGGCCAGAAATGGAACA 0.378 NaN 0 0 0 1 0 21 98 PCDHB15 56121 broad.mit.edu 37 5 140625700 140625700 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:140625700G>C uc003lje.2 + 1 554 c.554G>C c.(553-555)CGA>CCA p.R185P NM_018935 NP_061758 Q9Y5E8 PCDBF_HUMAN protocadherin beta 15 precursor 185 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(2)|breast(2)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACTCGCACCCGAGGGGATGGC 0.517 NaN 0 0 0 1 0 27 62 PCDHGC3 5098 broad.mit.edu 37 5 140857358 140857358 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:140857358G>A uc003lkv.1 + 1 1790 c.1675G>A c.(1675-1677)GAT>AAT p.D559N 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_Missense_Mutation_p.D559N|PCDHGC3_uc003lkw.1_Intron NM_002588 NP_002579 Q9UN70 PCDGK_HUMAN protocadherin gamma subfamily C, 3 isoform 1 559 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) ATTTGTCACTGATCGCAATGA 0.557 NaN OREG0016865 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 1 0 26 80 SH3RF2 153769 broad.mit.edu 37 5 145393552 145393552 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:145393552C>T uc003lnt.2 + 5 1225 c.987C>T c.(985-987)ATC>ATT p.I329I SH3RF2_uc011dbl.1_Silent_p.I329I NM_152550 NP_689763 Q8TEC5 SH3R2_HUMAN SH3 domain containing ring finger 2 329 ligase activity|protein phosphatase 1 binding|zinc ion binding ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CAGTGCTCATCAGCTCCAGCA 0.562 NaN 0 0 0 1 0 47 142 PPP2R2B 5521 broad.mit.edu 37 5 145969658 145969658 + Missense_Mutation SNP A A C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:145969658A>C uc003loe.2 - 9 1709 c.1184T>G c.(1183-1185)GTG>GGG p.V395G PPP2R2B_uc010jgm.2_Missense_Mutation_p.V384G|PPP2R2B_uc003log.3_Missense_Mutation_p.V395G|PPP2R2B_uc003lof.3_Missense_Mutation_p.V395G|PPP2R2B_uc003loi.3_Missense_Mutation_p.V398G|PPP2R2B_uc003loh.3_Missense_Mutation_p.V395G|PPP2R2B_uc003loj.3_Missense_Mutation_p.V375G|PPP2R2B_uc003lok.3_Missense_Mutation_p.V384G|PPP2R2B_uc011dbu.1_Missense_Mutation_p.V401G|PPP2R2B_uc011dbv.1_Missense_Mutation_p.V453G NM_004576 NP_004567 Q00005 2ABB_HUMAN beta isoform of regulatory subunit B55, protein 395 apoptosis|signal transduction cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity p.V398G(1) ovary(1)|prostate(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CTTGCCCCCCACACACACTTT 0.488 NaN 0 0 0 1 0 37 133 ADRB2 154 broad.mit.edu 37 5 148206577 148206577 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:148206577C>T uc003lpr.1 + 1 422 c.183C>T c.(181-183)TTC>TTT p.F61F SH3TC2_uc003lpp.1_Intron NM_000024 NP_000015 P07550 ADRB2_HUMAN adrenergic, beta-2-, receptor, surface 61 Cytoplasmic. activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis endosome|integral to plasma membrane|lysosome|receptor complex beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373) TTGCCAAGTTCGAGCGTCTGC 0.582 NaN 0 0 0 1 0 24 75 PDE6A 5145 broad.mit.edu 37 5 149264428 149264428 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:149264428G>C uc003lrg.3 - 15 1961 c.1841C>G c.(1840-1842)TCC>TGC p.S614C NM_000440 NP_000431 P16499 PDE6A_HUMAN phosphodiesterase 6A 614 cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception cytosol|plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) TGGGTTCTGGGATCTGAATGA 0.463 NaN 0 0 0 1 0 16 56 SLC6A7 6534 broad.mit.edu 37 5 149576666 149576666 + Silent SNP C C A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:149576666C>A uc003lrr.2 + 4 782 c.411C>A c.(409-411)ATC>ATA p.I137I NM_014228 NP_055043 Q99884 SC6A7_HUMAN solute carrier family 6, member 7 137 Helical; Name=3; (Potential). integral to plasma membrane|membrane fraction neurotransmitter:sodium symporter activity|proline:sodium symporter activity 0 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Proline(DB00172) ACATGATCATCGCCTACGTGC 0.622 NaN 1 0 1.2644e-06 1 1.30368e-06 22 65 NDST1 3340 broad.mit.edu 37 5 149932879 149932879 + Silent SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:149932879C>G uc003lsk.3 + 15 3136 c.2634C>G c.(2632-2634)CTC>CTG p.L878L NDST1_uc011dcj.1_Silent_p.L821L NM_001543 NP_001534 P52848 NDST1_HUMAN N-deacetylase/N-sulfotransferase (heparan 878 Heparan sulfate N-sulfotransferase 1.|Lumenal (Potential). heparan sulfate proteoglycan biosynthetic process|inflammatory response Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity breast(1)|skin(1) 2 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GAGAGGACCTCCAGAACACCA 0.567 NaN 0 0 0 1 0 66 375 ANXA6 309 broad.mit.edu 37 5 150512094 150512094 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:150512094C>T uc003ltl.1 - 10 831 c.679G>A c.(679-681)GAA>AAA p.E227K ANXA6_uc011dcp.1_Missense_Mutation_p.E195K|ANXA6_uc003ltm.1_Missense_Mutation_p.E227K|ANXA6_uc003ltn.1_Intron|ANXA6_uc003lto.1_Intron NM_001155 NP_001146 P08133 ANXA6_HUMAN annexin VI isoform 1 227 Annexin 3. IE -> MK (in Ref. 2; AAA35656). melanosome calcium ion binding|calcium-dependent phospholipid binding|protein binding 0 Medulloblastoma(196;0.0912)|all_hematologic(541;0.208) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ATGCTGGCTTCAATCGGCTTC 0.542 NaN 0 0 0 1 0 10 26 LARP1 23367 broad.mit.edu 37 5 154181594 154181594 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:154181594C>G uc003lvp.2 + 11 2173 c.1744C>G c.(1744-1746)CTG>GTG p.L582V LARP1_uc003lvo.2_Missense_Mutation_p.L505V|LARP1_uc010jie.1_Missense_Mutation_p.L377V NM_033551 NP_291029 Q6PKG0 LARP1_HUMAN la related protein isoform 2 582 protein binding|RNA binding ovary(2)|pancreas(1)|skin(1) 4 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) ATTTTCCCACCTGACCTCTCT 0.498 NaN 0 0 0 1 0 16 62 ATP10B 23120 broad.mit.edu 37 5 159992533 159992533 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:159992533C>G uc003lym.1 - 26 5160 c.4313G>C c.(4312-4314)AGA>ACA p.R1438T ATP10B_uc010jit.1_Missense_Mutation_p.R688T NM_025153 NP_079429 O94823 AT10B_HUMAN ATPase, class V, type 10B 1438 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AGTCTGTCCTCTTGAGTAGGC 0.537 NaN 0 0 0 1 0 47 116 SLIT3 6586 broad.mit.edu 37 5 168175380 168175380 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:168175380C>G uc003mab.2 - 20 2617 c.2197G>C c.(2197-2199)GAG>CAG p.E733Q SLIT3_uc010jjg.2_Missense_Mutation_p.E733Q NM_003062 NP_003053 O75094 SLIT3_HUMAN slit homolog 3 precursor 733 LRRNT 4. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding ovary(3)|skin(1) 4 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ACCACTGTCTCCATACAGGTG 0.632 NaN 0 0 0 1 0 28 94 C5orf25 375484 broad.mit.edu 37 5 175772332 175772332 + Nonsense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:175772332G>T uc003mds.3 + 12 2910 c.2503G>T c.(2503-2505)GAG>TAG p.E835* C5orf25_uc003mdt.3_Nonsense_Mutation_p.E420*|C5orf25_uc003mdr.3_RNA|C5orf25_uc003mdv.2_Nonsense_Mutation_p.E296* Q8NDZ2 CE025_HUMAN RecName: Full=Uncharacterized protein C5orf25; 835 0 all_cancers(89;0.00381)|Renal(175;0.000269)|Lung NSC(126;0.0122)|all_lung(126;0.0193) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Kidney(146;0.119) GATGCTGGGGGAGCCTCTTGT 0.537 NaN 1 0 5.45024e-15 1 5.74907e-15 26 56 SNCB 6620 broad.mit.edu 37 5 176047844 176047844 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:176047844C>T uc003mep.2 - 7 816 c.373G>A c.(373-375)GAG>AAG p.E125K SNCB_uc003meq.2_Missense_Mutation_p.E125K NM_001001502 NP_001001502 Q16143 SYUB_HUMAN beta-synuclein 125 calcium ion binding|phospholipase inhibitor activity ovary(1) 1 all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.00498)|all_neural(177;0.0212) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TGATATTCCTCCTGCATCACC 0.622 NaN 0 0 0 1 0 14 54 MGAT1 4245 broad.mit.edu 37 5 180219580 180219580 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:180219580G>A uc003mmg.3 - 2 887 c.392C>T c.(391-393)TCG>TTG p.S131L MGAT1_uc010jlf.2_Missense_Mutation_p.S131L|MGAT1_uc010jlg.2_Missense_Mutation_p.S131L|MGAT1_uc003mmh.3_Missense_Mutation_p.S131L|MGAT1_uc010jlh.2_Missense_Mutation_p.S131L|MGAT1_uc003mmi.3_Missense_Mutation_p.S131L NM_002406 NP_002397 P26572 MGAT1_HUMAN mannosyl (alpha-1,3-)-glycoprotein 131 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding ovary(1) 1 all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GAGCTCAGCCGAGGGCCGATA 0.672 NaN 0 0 0 1 0 19 65 IRF4 3662 broad.mit.edu 37 6 397158 397158 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:397158C>T uc003msz.3 + 5 656 c.543C>T c.(541-543)TAC>TAT p.Y181Y IRF4_uc010jne.1_Silent_p.Y181Y|IRF4_uc003mta.3_RNA|IRF4_uc003mtb.3_Silent_p.Y180Y|IRF4_uc003mtc.1_Silent_p.Y11Y NM_002460 NP_002451 Q15306 IRF4_HUMAN interferon regulatory factor 4 181 interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway cytoplasm DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding ovary(1) 1 Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702) GGAGGGACTACGTCCCGGATC 0.572 NaN T IGH@ MM 0 0 0 1 0 42 179 RPP40 10799 broad.mit.edu 37 6 5002362 5002362 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:5002362C>T uc003mwl.2 - 2 276 c.241G>A c.(241-243)GAA>AAA p.E81K uc003mwn.1_5'Flank|RPP40_uc003mwm.2_Missense_Mutation_p.E81K NM_006638 NP_006629 O75818 RPP40_HUMAN ribonuclease P 40kDa subunit 81 tRNA processing nucleolar ribonuclease P complex protein binding|ribonuclease P activity 0 Ovarian(93;0.11) all_hematologic(90;0.0895) CTGATGAATTCAGGTGTAATT 0.403 NaN 0 0 0 1 0 21 103 F13A1 2162 broad.mit.edu 37 6 6152170 6152170 + Nonsense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:6152170G>A uc003mwv.2 - 14 2044 c.1921C>T c.(1921-1923)CAG>TAG p.Q641* F13A1_uc011dib.1_Nonsense_Mutation_p.Q578* NM_000129 NP_000120 P00488 F13A_HUMAN coagulation factor XIII A1 subunit precursor 641 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1) 6 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) CCAACTACCTGAGTGCCACGG 0.438 NaN 0 0 0 1 0 22 23 SSR1 6745 broad.mit.edu 37 6 7303849 7303849 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:7303849C>T uc003mxf.3 - 3 402 c.214G>A c.(214-216)GAT>AAT p.D72N SSR1_uc003mxg.3_Missense_Mutation_p.D72N|SSR1_uc010jny.2_Missense_Mutation_p.D72N NM_003144 NP_003135 P43307 SSRA_HUMAN signal sequence receptor, alpha precursor 72 Lumenal (Potential). cotranslational protein targeting to membrane|positive regulation of cell proliferation endoplasmic reticulum membrane|integral to membrane signal sequence binding 0 Ovarian(93;0.0398) CCAGACACATCTTCTTCCTCT 0.294 NaN 0 0 0 1 0 55 57 MUTED 63915 broad.mit.edu 37 6 8041426 8041426 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:8041426G>A uc003mxy.2 - 3 309 c.271C>T c.(271-273)CTT>TTT p.L91F TXNDC5_uc003mxw.2_Silent_p.L7L|MUTED_uc010joc.2_Missense_Mutation_p.L27F|MUTED_uc010job.2_RNA NM_201280 NP_958437 Q8TDH9 MUTED_HUMAN muted 91 BLOC-1 complex protein binding 0 Ovarian(93;0.0398) CATTTGGGAAGAGTATGTTCA 0.368 NaN 0 0 0 1 0 28 77 GCM2 9247 broad.mit.edu 37 6 10874680 10874680 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:10874680G>A uc003mzn.3 - 5 1141 c.1069C>T c.(1069-1071)CGC>TGC p.R357C SYCP2L_uc011dim.1_Intron NM_004752 NP_004743 O75603 GCM2_HUMAN glial cells missing homolog 2 357 cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|sequence-specific DNA binding ovary(2)|central_nervous_system(1) 3 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) TAATAAGGGCGAGTGGCCATG 0.532 NaN 0 0 0 1 0 89 78 HIVEP1 3096 broad.mit.edu 37 6 12124515 12124515 + Nonsense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:12124515C>G uc003nac.2 + 4 4666 c.4487C>G c.(4486-4488)TCA>TGA p.S1496* HIVEP1_uc011diq.1_RNA NM_002114 NP_002105 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer 1496 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) GCAGAAACATCAAACTCCAGC 0.448 NaN 0 0 0 1 0 21 71 KIF13A 63971 broad.mit.edu 37 6 17781078 17781078 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:17781078G>A uc003ncg.3 - 31 3834 c.3729C>T c.(3727-3729)GTC>GTT p.V1243V KIF13A_uc003ncf.2_Silent_p.V1230V|KIF13A_uc003nch.3_Silent_p.V1243V|KIF13A_uc003nci.3_Silent_p.V1230V|KIF13A_uc003nce.1_5'Flank NM_022113 NP_071396 Q9H1H9 KI13A_HUMAN kinesin family member 13A isoform a 1243 cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding large_intestine(2)|ovary(2) 4 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) TCTGTGGTGTGACCCTATTCA 0.448 NaN 0 0 0 1 0 18 54 DEK 7913 broad.mit.edu 37 6 18249902 18249902 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:18249902C>G uc003ncr.1 - 7 935 c.742G>C c.(742-744)GAT>CAT p.D248H DEK_uc011djf.1_Missense_Mutation_p.D214H|DEK_uc011djg.1_RNA NM_003472 NP_003463 P35659 DEK_HUMAN DEK oncogene isoform 1 248 Asp/Glu-rich (acidic). chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication nucleus DNA binding|histone binding kidney(1) 1 Ovarian(93;0.00769)|Breast(50;0.0495) all_hematologic(90;0.053) OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332) CTTTCTTTATCTTCATCATCT 0.333 NaN T NUP214 AML 0 0 0 1 0 7 23 CDKAL1 54901 broad.mit.edu 37 6 21201376 21201376 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:21201376G>C uc003ndc.1 + 15 1593 c.1419G>C c.(1417-1419)AAG>AAC p.K473N CDKAL1_uc003ndd.1_Missense_Mutation_p.K473N|CDKAL1_uc003nde.1_Missense_Mutation_p.K382N|CDKAL1_uc003ndf.1_Intron|CDKAL1_uc003ndg.2_RNA NM_017774 NP_060244 Q5VV42 CDKAL_HUMAN CDK5 regulatory subunit associated protein 473 TRAM. RNA modification integral to membrane 4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity ovary(2) 2 all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227) OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248) TCATGGGGAAGATGGTTGAAG 0.363 NaN 0 0 0 1 0 31 109 DCDC2 51473 broad.mit.edu 37 6 24175047 24175047 + Nonsense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:24175047G>A uc003ndx.2 - 10 1644 c.1342C>T c.(1342-1344)CAA>TAA p.Q448* DCDC2_uc003ndy.2_Nonsense_Mutation_p.Q448*|DCDC2_uc003ndw.2_Nonsense_Mutation_p.Q199* NM_016356 NP_057440 Q9UHG0 DCDC2_HUMAN doublecortin domain containing 2 448 cellular defense response|intracellular signal transduction|neuron migration ovary(1) 1 Ovarian(999;0.101) GGTGGTCTTTGAGGGTCTACA 0.353 NaN 0 0 0 1 0 12 72 HIST1H3B 8358 broad.mit.edu 37 6 26031895 26031895 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:26031895G>C uc003nfs.1 - 1 394 c.394C>G c.(394-396)CGC>GGC p.R132G NM_003537 NP_003528 P68431 H31_HUMAN histone cluster 1, H3b 132 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding ovary(2) 2 CTTTCTCCGCGAATGCGGCGA 0.478 NaN 0 0 0 1 0 32 57 HIST1H3C 8352 broad.mit.edu 37 6 26045914 26045914 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:26045914G>A uc003nfv.2 + 1 276 c.276G>A c.(274-276)GCG>GCA p.A92A HIST1H2BB_uc003nfu.2_5'Flank NM_003531 NP_003522 P68431 H31_HUMAN histone cluster 1, H3c 92 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding ovary(1) 1 CGGTGATGGCGCTGCAGGAGG 0.582 NaN 0 0 0 1 0 22 80 HIST1H2AE 3012 broad.mit.edu 37 6 26217568 26217568 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:26217568G>C uc003nha.1 + 1 421 c.366G>C c.(364-366)GAG>GAC p.E122D HIST1H2BG_uc003ngz.2_5'Flank NM_021052 NP_066390 P04908 H2A1B_HUMAN histone cluster 1, H2ae 122 nucleosome assembly nucleosome|nucleus DNA binding ovary(1)|skin(1) 2 all_hematologic(11;0.196) AGAAGACGGAGAGCCACCATA 0.542 NaN 0 0 0 1 0 19 59 HIST1H4H 8365 broad.mit.edu 37 6 26285723 26285723 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:26285723G>C uc003nhm.2 - 1 5 c.5C>G c.(4-6)TCT>TGT p.S2C HIST1H4H_uc003nhl.1_RNA NM_003543 NP_003534 P62805 H4_HUMAN histone cluster 1, H4h 2 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding p.S2C(1) ovary(2) 2 ACCACGGCCAGACATGACTAA 0.473 NaN HNSCC(76;0.23) 0 0 0 1 0 17 71 BTN2A1 11120 broad.mit.edu 37 6 26465586 26465586 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:26465586G>A uc003nib.1 + 5 1098 c.886G>A c.(886-888)GAA>AAA p.E296K BTN2A1_uc003nic.1_Missense_Mutation_p.E296K|BTN2A1_uc003nid.1_Missense_Mutation_p.E144K|BTN2A1_uc011dko.1_Missense_Mutation_p.E235K|BTN2A1_uc010jqk.1_Missense_Mutation_p.E56K NM_007049 NP_008980 Q7KYR7 BT2A1_HUMAN butyrophilin, subfamily 2, member A1 isoform 1 296 Cytoplasmic (Potential). lipid metabolic process integral to plasma membrane ovary(1)|skin(1) 2 TGCTCTAAAGGAACTGGAGAA 0.299 NaN 0 0 0 1 0 58 69 ZNF184 7738 broad.mit.edu 37 6 27420524 27420524 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:27420524G>C uc003njj.2 - 5 1625 c.814C>G c.(814-816)CAT>GAT p.H272D ZNF184_uc010jqv.2_Missense_Mutation_p.H272D|ZNF184_uc003nji.2_Missense_Mutation_p.H272D NM_007149 NP_009080 Q99676 ZN184_HUMAN zinc finger protein 184 272 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TCTCCAGTATGAATTCTTTGA 0.378 NaN 0 0 0 1 0 17 85 HIST1H4L 8368 broad.mit.edu 37 6 27840978 27840978 + Nonstop_Mutation SNP C C A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:27840978C>A uc003njz.2 - 1 312 c.311G>T c.(310-312)TGA>TTA p.*104L HIST1H3I_uc003njy.2_5'Flank NM_003546 NP_003537 P62805 H4_HUMAN histone cluster 1, H4l 104 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding ovary(1)|breast(1) 2 GTAAAACACTCAGCCGCCAAA 0.512 NaN 1 0 2.17888e-05 1 2.22085e-05 9 57 C6orf136 221545 broad.mit.edu 37 6 30619214 30619214 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:30619214C>T uc003nqw.3 + 4 928 c.735C>T c.(733-735)TTC>TTT p.F245F C6orf136_uc003nqx.3_Silent_p.F426F|C6orf136_uc011dmn.1_Silent_p.F111F NM_001109938 NP_001103408 Q5SQH8 CF136_HUMAN hypothetical protein LOC221545 isoform 1 245 0 TTTTGCGGTTCTACAAGCGTG 0.448 NaN 0 0 0 1 0 103 366 TNF 7124 broad.mit.edu 37 6 31544355 31544355 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:31544355C>T uc003nui.2 + 2 400 c.231C>T c.(229-231)GTC>GTT p.V77V TNF_uc003nuj.2_5'UTR NM_000594 NP_000585 P01375 TNFA_HUMAN tumor necrosis factor alpha 77 Extracellular (Potential). Cleavage; by ADAM17. activation of caspase activity|activation of MAPK activity|activation of MAPKKK activity|anti-apoptosis|cellular response to nicotine|chronic inflammatory response to antigenic stimulus|embryonic digestive tract development|induction of apoptosis via death domain receptors|induction of necroptosis by extracellular signals|leukocyte tethering or rolling|necrotic cell death|negative regulation of branching involved in lung morphogenesis|negative regulation of cytokine secretion involved in immune response|negative regulation of fat cell differentiation|negative regulation of interleukin-6 production|negative regulation of lipid catabolic process|negative regulation of lipid storage|negative regulation of viral genome replication|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of chemokine biosynthetic process|positive regulation of chemokine production|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of fever generation|positive regulation of heterotypic cell-cell adhesion|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of membrane protein ectodomain proteolysis|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of NFAT protein import into nucleus|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of podosome assembly|positive regulation of protein complex disassembly|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|receptor biosynthetic process|regulation of insulin secretion|response to glucocorticoid stimulus|response to salt stress|response to virus|sequestering of triglyceride|transformed cell apoptosis|tumor necrosis factor-mediated signaling pathway external side of plasma membrane|extracellular space|integral to plasma membrane|membrane raft|phagocytic cup|recycling endosome cytokine activity|identical protein binding|protease binding|transcription regulatory region DNA binding|tumor necrosis factor receptor binding ovary(1)|pancreas(1)|skin(1) 3 Ovarian(999;0.00556) Adalimumab(DB00051)|Adenosine(DB00640)|Amrinone(DB01427)|Atorvastatin(DB01076)|Chloroquine(DB00608)|Clenbuterol(DB01407)|Etanercept(DB00005)|Glucosamine(DB01296)|Infliximab(DB00065)|Naltrexone(DB00704)|Pranlukast(DB01411)|Procaterol(DB01366)|Saquinavir(DB01232)|Simvastatin(DB00641)|Thalidomide(DB01041) CCCAGGCAGTCAGTAAGTGTC 0.502 NaN Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of 0 0 0 1 0 38 112 TNXB 7148 broad.mit.edu 37 6 32010104 32010104 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:32010104G>A uc003nzl.2 - 41 12442 c.12240C>T c.(12238-12240)TTC>TTT p.F4080F TNXB_uc003nzg.1_Silent_p.F511F|TNXB_uc003nzh.1_Silent_p.F549F NM_019105 NP_061978 P22105 TENX_HUMAN tenascin XB isoform 1 precursor 4127 Fibrinogen C-terminal. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 AGTCCCTCCAGAAGTCTGTCT 0.612 NaN 0 0 0 1 0 9 45 TNXB 7148 broad.mit.edu 37 6 32021477 32021477 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:32021477C>T uc003nzl.2 - 25 8675 c.8473G>A c.(8473-8475)GAA>AAA p.E2825K NM_019105 NP_061978 P22105 TENX_HUMAN tenascin XB isoform 1 precursor Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 GTCTCTGCTTCATCCTCTGGA 0.587 NaN 0 0 0 1 0 16 62 NOTCH4 4855 broad.mit.edu 37 6 32170230 32170230 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:32170230C>T uc003obb.2 - 21 3517 c.3378G>A c.(3376-3378)CTG>CTA p.L1126L NOTCH4_uc003oba.2_5'UTR|NOTCH4_uc011dpu.1_Intron|NOTCH4_uc011dpv.1_Intron NM_004557 NP_004548 Q99466 NOTC4_HUMAN notch4 preproprotein 1126 EGF-like 28.|Extracellular (Potential). cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1) 22 CTGGTGGGGTCAGGCAGTCAG 0.642 NaN 0 0 0 1 0 5 32 HLA-DQA2 3118 broad.mit.edu 37 6 32713004 32713004 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:32713004G>A uc003obx.2 + 2 209 c.151G>A c.(151-153)GAA>AAA p.E51K NM_020056 NP_064440 P01906 DQA2_HUMAN major histocompatibility complex, class II, DQ 51 Extracellular (Potential).|Alpha-1. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity 0 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GTACACCCATGAATTTGATGG 0.502 NaN 0 0 0 1 0 46 143 COL11A2 1302 broad.mit.edu 37 6 33135226 33135226 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:33135226G>A uc003ocx.1 - 56 4327 c.4099C>T c.(4099-4101)CTG>TTG p.L1367L COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Silent_p.L1281L|COL11A2_uc003ocz.1_Silent_p.L1260L NM_080680 NP_542411 P13942 COBA2_HUMAN collagen, type XI, alpha 2 isoform 1 1367 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging ovary(3)|skin(2) 5 AGCCCCCTCAGACCATCAGGG 0.662 NaN 0 0 0 1 0 20 53 COL11A2 1302 broad.mit.edu 37 6 33154506 33154506 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:33154506C>T uc003ocx.1 - 5 924 c.696G>A c.(694-696)CAG>CAA p.Q232Q COL11A2_uc003ocy.1_Silent_p.Q232Q|COL11A2_uc003ocz.1_Silent_p.Q232Q|COL11A2_uc003oda.2_Silent_p.Q232Q NM_080680 NP_542411 P13942 COBA2_HUMAN collagen, type XI, alpha 2 isoform 1 232 Nonhelical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging ovary(3)|skin(2) 5 GTCTTTCCCTCTGGCCCCCCT 0.562 NaN 0 0 0 1 0 36 122 RXRB 6257 broad.mit.edu 37 6 33165597 33165597 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:33165597C>T uc003odb.2 - 4 941 c.762G>A c.(760-762)CGG>CGA p.R254R RXRB_uc003odc.2_Silent_p.R254R|RXRB_uc003odd.2_Silent_p.R158R|RXRB_uc011dqr.1_Silent_p.R64R|RXRB_uc011dqs.1_Silent_p.R137R|RXRB_uc003ode.1_Silent_p.R118R|RXRB_uc011dqt.1_Silent_p.R254R|RXRB_uc011dqu.1_Silent_p.R158R NM_021976 NP_068811 P28702 RXRB_HUMAN retinoid X receptor, beta 254 NR C4-type.|Nuclear receptor. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding ovary(3) 3 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755) GACAGCGGTTCCGCTGGCGCT 0.582 NaN 0 0 0 1 0 9 48 HSD17B8 7923 broad.mit.edu 37 6 33173242 33173242 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:33173242C>G uc003odi.1 + 4 433 c.406C>G c.(406-408)CAG>GAG p.Q136E uc003odj.1_5'Flank|MIR219-1_hsa-mir-219-1|MI0000296_5'Flank NM_014234 NP_055049 Q92506 DHB8_HUMAN estradiol 17 beta-dehydrogenase 8 136 estrogen biosynthetic process|fatty acid biosynthetic process mitochondrial matrix 3-hydroxyacyl-CoA dehydrogenase activity|estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NAD+) activity breast(1)|central_nervous_system(1) 2 NADH(DB00157) CCTAGTCACTCAGGCTGCAGC 0.572 NaN 0 0 0 1 0 29 104 KIF6 221458 broad.mit.edu 37 6 39513460 39513460 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:39513460C>G uc003oot.2 - 11 1281 c.1186G>C c.(1186-1188)GAA>CAA p.E396Q KIF6_uc010jxa.1_Missense_Mutation_p.E187Q|KIF6_uc011dua.1_Missense_Mutation_p.E396Q|KIF6_uc010jxb.1_Missense_Mutation_p.E396Q NM_145027 NP_659464 Q6ZMV9 KIF6_HUMAN kinesin family member 6 396 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding breast(2)|central_nervous_system(1) 3 ATTAGTTTTTCCAGCCTAAAA 0.338 NaN 0 0 0 1 0 14 41 PGC 5225 broad.mit.edu 37 6 41707611 41707611 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:41707611G>C uc003ora.1 - 7 890 c.841C>G c.(841-843)CTG>GTG p.L281V NM_002630 NP_002621 P20142 PEPC_HUMAN progastricsin (pepsinogen C) precursor 281 digestion|proteolysis extracellular space aspartic-type endopeptidase activity 0 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507) ACAGTGAGCAGAGAGGTGCCT 0.612 NaN 0 0 0 1 0 35 87 PEX6 5190 broad.mit.edu 37 6 42936706 42936706 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:42936706C>T uc003otf.2 - 6 1478 c.1385G>A c.(1384-1386)GGA>GAA p.G462E PEX6_uc010jya.2_RNA NM_000287 NP_000278 Q13608 PEX6_HUMAN peroxisomal biogenesis factor 6 462 protein import into peroxisome matrix, translocation|protein stabilization cytosol|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding ovary(1) 1 all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562) ACTGCTAGTTCCTGTCAGCAG 0.537 NaN 0 0 0 1 0 23 73 C6orf153 88745 broad.mit.edu 37 6 42995194 42995194 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:42995194C>T uc003otp.1 + 6 630 c.622C>T c.(622-624)CGG>TGG p.R208W NM_033112 NP_149103 Q96EU6 RRP36_HUMAN hypothetical protein LOC88745 208 ribosomal small subunit biogenesis|rRNA processing nucleolus 0 Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) GCAGGGCCATCGGCCATACTT 0.572 NaN 0 0 0 1 0 29 76 ABCC10 89845 broad.mit.edu 37 6 43415550 43415550 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:43415550C>T uc003ouy.1 + 18 4049 c.3834C>T c.(3832-3834)ATC>ATT p.I1278I ABCC10_uc003ouz.1_Silent_p.I1250I|ABCC10_uc010jyo.1_Silent_p.I384I NM_033450 NP_258261 Q5T3U5 MRP7_HUMAN ATP-binding cassette, sub-family C, member 10 1278 ABC transporter 2. integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(6)|central_nervous_system(1) 7 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) AGTTGGGCATCGTGGGCCGCA 0.642 NaN 0 0 0 1 0 70 211 XPO5 57510 broad.mit.edu 37 6 43495465 43495465 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:43495465C>T uc003ovp.2 - 26 3038 c.2827G>A c.(2827-2829)GAA>AAA p.E943K POLR1C_uc003ovo.1_Intron NM_020750 NP_065801 Q9HAV4 XPO5_HUMAN exportin 5 943 gene silencing by RNA cytosol|nucleoplasm protein binding|tRNA binding skin(2)|breast(1)|kidney(1) 4 all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243) all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524) GCCTCATCTTCTCCACTGCAG 0.498 NaN 0 0 0 1 0 18 50 POLH 5429 broad.mit.edu 37 6 43578408 43578408 + Missense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:43578408G>T uc003ovq.3 + 10 1496 c.1192G>T c.(1192-1194)GAT>TAT p.D398Y POLH_uc010jyu.2_Missense_Mutation_p.D274Y|POLH_uc011dvl.1_RNA|POLH_uc003ovr.3_Missense_Mutation_p.D299Y NM_006502 NP_006493 Q9Y253 POLH_HUMAN DNA-directed DNA polymerase eta 398 DNA replication|DNA synthesis involved in DNA repair|regulation of DNA repair|response to UV-C cytoplasm|nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding breast(2) 2 all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004) all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167) GATGAGCCATGATGCATTTAC 0.468 NaN DNA_polymerases_(catalytic_subunits) Xeroderma_Pigmentosum 1 0 2.4624e-09 1 2.56544e-09 19 44 GTPBP2 54676 broad.mit.edu 37 6 43591732 43591732 + Missense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:43591732G>T uc003ovs.2 - 8 1211 c.1174C>A c.(1174-1176)CTG>ATG p.L392M GTPBP2_uc010jyv.2_Missense_Mutation_p.L304M|GTPBP2_uc003ovt.1_Missense_Mutation_p.L392M NM_019096 NP_061969 Q9BX10 GTPB2_HUMAN GTP binding protein 2 392 GTP binding|GTPase activity liver(1)|skin(1) 2 all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004) all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167) AGTGGCGGCAGAATATTCAGA 0.512 NaN 1 0 2.61193e-14 1 2.75343e-14 31 86 TMEM63B 55362 broad.mit.edu 37 6 44104156 44104156 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:44104156G>C uc003owr.2 + 5 413 c.349G>C c.(349-351)GAC>CAC p.D117H TMEM63B_uc003owq.1_Missense_Mutation_p.D117H|TMEM63B_uc010jyy.1_Missense_Mutation_p.D20H|TMEM63B_uc003ows.2_Missense_Mutation_p.D20H NM_018426 NP_060896 Q5T3F8 TM63B_HUMAN transmembrane protein 63B 117 integral to membrane nucleotide binding|protein binding pancreas(2)|central_nervous_system(1) 3 all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215) CAGCTCCGTTGACTTTGACCA 0.577 NaN 0 0 0 1 0 18 54 TMEM63B 55362 broad.mit.edu 37 6 44107235 44107235 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:44107235G>A uc003owr.2 + 7 503 c.439G>A c.(439-441)GAT>AAT p.D147N TMEM63B_uc003owq.1_Missense_Mutation_p.D147N|TMEM63B_uc010jyy.1_Missense_Mutation_p.D50N|TMEM63B_uc003ows.2_Missense_Mutation_p.D50N|TMEM63B_uc010jyz.2_5'Flank NM_018426 NP_060896 Q5T3F8 TM63B_HUMAN transmembrane protein 63B 147 integral to membrane nucleotide binding|protein binding pancreas(2)|central_nervous_system(1) 3 all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215) ATGTGGGGGCGATGCCGTGCA 0.582 NaN 0 0 0 1 0 21 73 TNFRSF21 27242 broad.mit.edu 37 6 47254118 47254118 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:47254118C>G uc003oyv.2 - 2 743 c.310G>C c.(310-312)GAG>CAG p.E104Q NM_014452 NP_055267 O75509 TNR21_HUMAN tumor necrosis factor receptor superfamily, 104 TNFR-Cys 2.|Extracellular (Potential). cellular lipid metabolic process cytoplasm|integral to membrane protein binding|receptor activity 0 Lung(136;0.189) TGGCATTTCTCTATGCCATTC 0.522 NaN 0 0 0 1 0 46 124 HMGCLL1 54511 broad.mit.edu 37 6 55406893 55406893 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:55406893C>G uc003pcn.2 - 3 403 c.244G>C c.(244-246)GAA>CAA p.E82Q HMGCLL1_uc003pco.2_Missense_Mutation_p.E52Q|HMGCLL1_uc010jzx.2_5'UTR|HMGCLL1_uc011dxc.1_Missense_Mutation_p.E52Q|HMGCLL1_uc011dxd.1_Missense_Mutation_p.E52Q|HMGCLL1_uc011dxe.1_Missense_Mutation_p.E52Q|HMGCLL1_uc003pcp.2_Missense_Mutation_p.E52Q NM_019036 NP_061909 Q8TB92 HMGC2_HUMAN 3-hydroxymethyl-3-methylglutaryl-Coenzyme A 82 hydroxymethylglutaryl-CoA lyase activity|metal ion binding skin(2)|ovary(1)|pancreas(1) 4 Lung NSC(77;0.0875) LUSC - Lung squamous cell carcinoma(124;0.23) GGCCCAACTTCTACTATTTTA 0.318 NaN 0 0 0 1 0 4 25 DST 667 broad.mit.edu 37 6 56507261 56507261 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:56507261C>T uc003pdf.2 - 15 1748 c.1720G>A c.(1720-1722)GAC>AAC p.D574N DST_uc003pcz.3_Missense_Mutation_p.D396N|DST_uc011dxj.1_Missense_Mutation_p.D425N|DST_uc011dxk.1_Missense_Mutation_p.D436N|DST_uc011dxl.1_Missense_Mutation_p.D425N|DST_uc003pcy.3_Missense_Mutation_p.D70N|DST_uc003pdb.2_Missense_Mutation_p.D70N|DST_uc003pdc.3_Missense_Mutation_p.D70N|DST_uc003pdd.3_Missense_Mutation_p.D70N|DST_uc003pde.2_Missense_Mutation_p.D512N NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 396 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) ATGACACTGTCCCTCTGAACT 0.403 NaN 0 0 0 1 0 11 58 PHF3 23469 broad.mit.edu 37 6 64389966 64389966 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:64389966G>A uc003pep.1 + 2 336 c.310G>A c.(310-312)GAA>AAA p.E104K PHF3_uc010kaf.1_Missense_Mutation_p.E104K|PHF3_uc003pem.2_Missense_Mutation_p.E57K|PHF3_uc010kag.1_Missense_Mutation_p.E16K|PHF3_uc010kah.1_Intron|PHF3_uc003pen.2_Missense_Mutation_p.E16K|PHF3_uc011dxs.1_5'UTR|PHF3_uc003peo.2_Missense_Mutation_p.E104K NM_015153 NP_055968 Q92576 PHF3_HUMAN PHD finger protein 3 104 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding ovary(3)|lung(1)|skin(1) 5 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) TACCATTGATGAAGAAGAACT 0.333 NaN 0 0 0 1 0 15 74 PHF3 23469 broad.mit.edu 37 6 64389977 64389977 + Silent SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:64389977G>C uc003pep.1 + 2 347 c.321G>C c.(319-321)CTG>CTC p.L107L PHF3_uc010kaf.1_Silent_p.L107L|PHF3_uc003pem.2_Silent_p.L60L|PHF3_uc010kag.1_Silent_p.L19L|PHF3_uc010kah.1_Intron|PHF3_uc003pen.2_Silent_p.L19L|PHF3_uc011dxs.1_5'UTR|PHF3_uc003peo.2_Silent_p.L107L NM_015153 NP_055968 Q92576 PHF3_HUMAN PHD finger protein 3 107 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding ovary(3)|lung(1)|skin(1) 5 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) AAGAAGAACTGATTTTACCTA 0.353 NaN 0 0 0 1 0 16 77 BAI3 577 broad.mit.edu 37 6 69653779 69653779 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:69653779G>C uc003pev.3 + 6 1536 c.1088G>C c.(1087-1089)CGA>CCA p.R363P BAI3_uc010kak.2_Missense_Mutation_p.R363P NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 363 Extracellular (Potential).|TSP type-1 2. 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) ACATGTGGTCGAGGCCAAAGA 0.438 NaN 0 0 0 1 0 22 68 LMBRD1 55788 broad.mit.edu 37 6 70411792 70411792 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:70411792G>A uc003pfa.2 - 10 1084 c.969C>T c.(967-969)CTC>CTT p.L323L LMBRD1_uc003pey.2_Silent_p.L119L|LMBRD1_uc003pez.2_Silent_p.L250L|LMBRD1_uc010kal.2_Silent_p.L250L|LMBRD1_uc003pfb.2_RNA NM_018368 NP_060838 Q9NUN5 LMBD1_HUMAN liver regeneration p-53 related protein 323 Helical; Name=6; (Potential). interspecies interaction between organisms|transport integral to membrane|lysosomal membrane cobalamin binding ovary(1) 1 TTGACAAGAAGAGAGAAATTA 0.289 NaN 0 0 0 1 0 9 26 COL19A1 1310 broad.mit.edu 37 6 70639408 70639408 + Missense_Mutation SNP G G C rs151153446 byFrequency TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:70639408G>C uc003pfc.1 + 6 599 c.482G>C c.(481-483)CGA>CCA p.R161P COL19A1_uc010kam.1_Missense_Mutation_p.R57P NM_001858 NP_001849 Q14993 COJA1_HUMAN alpha 1 type XIX collagen precursor 161 TSP N-terminal. cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging ovary(2)|breast(2) 4 TTTAGAAATCGAGAACTCCGT 0.378 NaN 0 0 0 1 0 19 65 RIMS1 22999 broad.mit.edu 37 6 72957812 72957812 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:72957812C>T uc003pga.2 + 12 2300 c.2223C>T c.(2221-2223)GTC>GTT p.V741V RIMS1_uc011dyb.1_Silent_p.V367V|RIMS1_uc003pgc.2_Silent_p.V367V|RIMS1_uc010kaq.2_Silent_p.V215V|RIMS1_uc011dyc.1_Silent_p.V215V|RIMS1_uc010kar.2_Silent_p.V134V|RIMS1_uc011dyd.1_Silent_p.V200V|RIMS1_uc003pgf.2_5'Flank|RIMS1_uc003pgg.2_5'Flank|RIMS1_uc003pgi.2_5'Flank|RIMS1_uc003pgh.2_5'Flank|RIMS1_uc003pgd.2_5'Flank|RIMS1_uc003pge.2_5'Flank|RIMS1_uc003pgb.3_Silent_p.V367V|RIMS1_uc010kas.1_Silent_p.V200V NM_014989 NP_055804 Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 741 calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(7)|pancreas(2)|breast(1) 10 all_epithelial(107;0.179)|all_hematologic(105;0.212) CCCCACAAGTCTTACCAGGGC 0.398 NaN 0 0 0 1 0 13 43 SLC17A5 26503 broad.mit.edu 37 6 74363522 74363522 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:74363522C>T uc003phn.3 - 1 216 c.88G>A c.(88-90)GAA>AAA p.E30K SLC17A5_uc010kay.2_RNA|SLC17A5_uc011dyo.1_5'UTR NM_012434 NP_036566 Q9NRA2 S17A5_HUMAN sialin 30 anion transport integral to plasma membrane|lysosomal membrane|membrane fraction sialic acid:hydrogen symporter activity skin(5)|central_nervous_system(1) 6 TTACCGGCTTCGGCCCGTGGG 0.726 NaN 0 0 0 1 0 4 9 FILIP1 27145 broad.mit.edu 37 6 76023801 76023801 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:76023801C>T uc003pia.2 - 5 2120 c.1747G>A c.(1747-1749)GAA>AAA p.E583K FILIP1_uc003phy.1_Missense_Mutation_p.E583K|FILIP1_uc003phz.2_Missense_Mutation_p.E484K|FILIP1_uc010kbe.2_Missense_Mutation_p.E586K|FILIP1_uc003pib.1_Missense_Mutation_p.E335K NM_015687 NP_056502 Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 583 Potential. skin(3)|ovary(1) 4 GATTTTTCTTCTTCACTTTTC 0.338 NaN 0 0 0 1 0 23 50 FILIP1 27145 broad.mit.edu 37 6 76063265 76063265 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:76063265C>G uc003pia.2 - 4 992 c.619G>C c.(619-621)GAG>CAG p.E207Q FILIP1_uc003phy.1_Missense_Mutation_p.E207Q|FILIP1_uc003phz.2_Missense_Mutation_p.E108Q|FILIP1_uc010kbe.2_Missense_Mutation_p.E210Q NM_015687 NP_056502 Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 207 Potential. skin(3)|ovary(1) 4 CTCTCCCGCTCCTGCTCCAGC 0.527 NaN 0 0 0 1 0 42 151 FILIP1 27145 broad.mit.edu 37 6 76124427 76124427 + Nonsense_Mutation SNP C C A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:76124427C>A uc003pia.2 - 2 635 c.262G>T c.(262-264)GAA>TAA p.E88* FILIP1_uc003phy.1_Nonsense_Mutation_p.E88*|FILIP1_uc010kbe.2_Nonsense_Mutation_p.E91* NM_015687 NP_056502 Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 88 ELSKEDLIQLLSIMEGE -> AQYAIYIVSRLILLHFL (in Ref. 2; BAA86589). skin(3)|ovary(1) 4 AACTCCCCTTCCATTATACTG 0.338 NaN 1 0 4.10826e-27 1 4.38543e-27 47 145 FAM46A 55603 broad.mit.edu 37 6 82461733 82461733 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:82461733G>A uc003pjg.2 - 2 444 c.126C>T c.(124-126)TTC>TTT p.F42F FAM46A_uc003pjf.2_Silent_p.F61F|FAM46A_uc003pjh.1_Silent_p.F42F NM_017633 NP_060103 Q96IP4 FA46A_HUMAN hypothetical protein LOC55603 42 4. Missing. 0 all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104) BRCA - Breast invasive adenocarcinoma(397;0.0428) cgccaccgccgaagtcgccgc 0.388 NaN 0 0 0 1 0 20 32 TPBG 7162 broad.mit.edu 37 6 83075366 83075366 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:83075366C>G uc003pjn.3 + 3 1624 c.688C>G c.(688-690)CTG>GTG p.L230V TPBG_uc010kbj.2_Missense_Mutation_p.L230V|TPBG_uc003pjo.2_Missense_Mutation_p.L230V NM_006670 NP_006661 Q13641 TPBG_HUMAN trophoblast glycoprotein precursor 230 Extracellular (Potential).|LRR 4. cell adhesion integral to plasma membrane central_nervous_system(1) 1 all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897) BRCA - Breast invasive adenocarcinoma(397;0.107) GCGGGATGTGCTGGCCCAACT 0.627 NaN 0 0 0 1 0 42 128 PREP 5550 broad.mit.edu 37 6 105800901 105800901 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:105800901G>A uc003prc.2 - 7 972 c.769C>T c.(769-771)CCA>TCA p.P257S NM_002726 NP_002717 P48147 PPCE_HUMAN prolyl endopeptidase 257 proteolysis serine-type endopeptidase activity ovary(3) 3 all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202) Oxytocin(DB00107) CGGTTTACTGGATCACATCCT 0.378 NaN 0 0 0 1 0 35 124 MICAL1 64780 broad.mit.edu 37 6 109771587 109771587 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:109771587C>G uc003ptj.2 - 7 1361 c.1107G>C c.(1105-1107)ATG>ATC p.M369I MICAL1_uc003ptk.2_Missense_Mutation_p.M369I|MICAL1_uc010kdr.2_Intron|MICAL1_uc011eaq.1_Missense_Mutation_p.M388I NM_022765 NP_073602 Q8TDZ2 MICA1_HUMAN microtubule associated monoxygenase, calponin 369 cytoskeleton organization|signal transduction cytoplasm|intermediate filament SH3 domain binding|zinc ion binding breast(2)|ovary(1) 3 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574) CTGCCCGCATCATGCTCGTGA 0.607 NaN 0 0 0 1 0 30 83 CDC40 51362 broad.mit.edu 37 6 110531931 110531931 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:110531931G>A uc003pua.2 + 6 676 c.652G>A c.(652-654)GAA>AAA p.E218K NM_015891 NP_056975 O60508 PRP17_HUMAN cell division cycle 40 homolog 218 mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription catalytic step 2 spliceosome|nucleoplasm 0 all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488) Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034) AGAATTGGATGAAATCACAGC 0.318 NaN 0 0 0 1 0 8 10 CDK19 23097 broad.mit.edu 37 6 111136325 111136325 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:111136325G>A uc003puh.1 - 1 88 c.15C>T c.(13-15)TTC>TTT p.F5F AMD1_uc011eay.1_Intron|CDK19_uc003pui.1_Intron|uc003puj.1_5'Flank|CDK19_uc010kdv.1_RNA NM_015076 NP_055891 Q9BWU1 CDK19_HUMAN cell division cycle 2-like 6 (CDK8-like) 5 ATP binding|cyclin-dependent protein kinase activity|protein binding ovary(2)|central_nervous_system(1)|skin(1) 4 GCTTCGCCTTGAAATCATAAT 0.652 NaN 0 0 0 1 0 20 49 REV3L 5980 broad.mit.edu 37 6 111632423 111632423 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:111632423C>G uc003puy.3 - 29 8967 c.8644G>C c.(8644-8646)GAT>CAT p.D2882H REV3L_uc003pux.3_Missense_Mutation_p.D2804H|REV3L_uc003puz.3_Missense_Mutation_p.D2804H|REV3L_uc003pva.1_RNA|REV3L_uc003puw.3_5'Flank NM_002912 NP_002903 O60673 DPOLZ_HUMAN DNA polymerase zeta 2882 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding large_intestine(2)|ovary(2)|skin(2) 6 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) AGACTTATATCTCTCGTTTCA 0.348 NaN DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 0 0 0 1 0 30 89 RFPL4B 442247 broad.mit.edu 37 6 112671523 112671523 + Missense_Mutation SNP C C G rs143103700 byFrequency TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:112671523C>G uc003pvx.1 + 3 925 c.613C>G c.(613-615)CGC>GGC p.R205G NM_001013734 NP_001013756 Q6ZWI9 RFPLB_HUMAN ret finger protein-like 4B 205 B30.2/SPRY. zinc ion binding 0 all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209) all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244) CCCTCGCCTTCGCCGTGTGGG 0.448 NaN 0 0 0 1 0 21 50 HS3ST5 222537 broad.mit.edu 37 6 114379227 114379227 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:114379227C>G uc003pwg.3 - 2 267 c.235G>C c.(235-237)GAG>CAG p.E79Q uc003pwf.2_Intron|HS3ST5_uc003pwh.3_Missense_Mutation_p.E79Q NM_153612 NP_705840 Q8IZT8 HS3S5_HUMAN heparan sulfate (glucosamine) 79 Lumenal (Potential). heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding ovary(1)|pancreas(1) 2 all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154) OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143) CGAACCTGCTCCTTGGAAGCG 0.597 NaN 0 0 0 1 0 14 69 MAN1A1 4121 broad.mit.edu 37 6 119669725 119669725 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:119669725C>G uc003pym.1 - 2 948 c.506G>C c.(505-507)AGA>ACA p.R169T MAN1A1_uc010kei.1_Missense_Mutation_p.R169T NM_005907 NP_005898 P33908 MA1A1_HUMAN mannosidase, alpha, class 1A, member 1 169 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity ovary(2)|central_nervous_system(1)|skin(1) 4 all_epithelial(87;0.173) OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115) GGGCAGGCCTCTGAACGGCGC 0.632 NaN 0 0 0 1 0 28 99 C6orf174 387104 broad.mit.edu 37 6 127796494 127796494 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:127796494C>G uc003qbd.2 - 6 3542 c.2677G>C c.(2677-2679)GAG>CAG p.E893Q C6orf174_uc003qbc.2_5'UTR NM_001012279 NP_001012279 Q5TF21 CF174_HUMAN hypothetical protein LOC387104 precursor 893 integral to membrane breast(3)|ovary(2)|skin(1) 6 GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161) TTGGGCACCTCGAGGCGGTCG 0.657 NaN 0 0 0 1 0 39 124 LAMA2 3908 broad.mit.edu 37 6 129636636 129636636 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:129636636G>A uc003qbn.2 + 25 3676 c.3571G>A c.(3571-3573)GAG>AAG p.E1191K LAMA2_uc003qbo.2_Missense_Mutation_p.E1191K NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 1191 Laminin IV type A 2. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) TCTGAAGGCTGAGCAGACCAT 0.463 NaN 0 0 0 1 0 22 71 SAMD3 154075 broad.mit.edu 37 6 130535486 130535486 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:130535486G>C uc003qbv.2 - 5 591 c.265C>G c.(265-267)CGA>GGA p.R89G SAMD3_uc003qbx.2_Missense_Mutation_p.R89G|SAMD3_uc003qbw.2_Missense_Mutation_p.R89G|SAMD3_uc010kfg.1_Missense_Mutation_p.R89G|SAMD3_uc003qby.2_Missense_Mutation_p.R89G|SAMD3_uc003qbz.1_Missense_Mutation_p.R48G NM_001017373 NP_001017373 Q8N6K7 SAMD3_HUMAN sterile alpha motif domain containing 3 isoform 89 ovary(1) 1 GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128) ACTCACTCTCGAGCTGCTTCT 0.423 NaN 0 0 0 1 0 34 121 SLC2A12 154091 broad.mit.edu 37 6 134350213 134350213 + Silent SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:134350213G>C uc003qem.1 - 2 921 c.750C>G c.(748-750)CTC>CTG p.L250L NM_145176 NP_660159 Q8TD20 GTR12_HUMAN solute carrier family 2 (facilitated glucose 250 Cytoplasmic (Potential). endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity ovary(1) 1 Breast(56;0.214)|Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123) TGATCACAGTGAGTTCCTCAG 0.443 NaN 0 0 0 1 0 18 67 MAP7 9053 broad.mit.edu 37 6 136683622 136683622 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:136683622C>G uc003qgz.2 - 11 1738 c.1492G>C c.(1492-1494)GAA>CAA p.E498Q MAP7_uc011edf.1_Missense_Mutation_p.E483Q|MAP7_uc011edg.1_Missense_Mutation_p.E528Q|MAP7_uc010kgu.2_Missense_Mutation_p.E520Q|MAP7_uc011edh.1_Missense_Mutation_p.E483Q|MAP7_uc010kgv.2_Missense_Mutation_p.E520Q|MAP7_uc010kgs.2_Missense_Mutation_p.E352Q|MAP7_uc011edi.1_Missense_Mutation_p.E352Q|MAP7_uc010kgq.1_Missense_Mutation_p.E404Q|MAP7_uc003qha.1_Missense_Mutation_p.E461Q NM_003980 NP_003971 Q14244 MAP7_HUMAN microtubule-associated protein 7 498 Potential. establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm receptor binding|structural molecule activity 0 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643) CTCTCCCTTTCTTCCTTTTCT 0.527 NaN 0 0 0 1 0 47 150 HECA 51696 broad.mit.edu 37 6 139487792 139487792 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:139487792C>T uc003qin.2 + 2 928 c.643C>T c.(643-645)CCT>TCT p.P215S NM_016217 NP_057301 Q9UBI9 HDC_HUMAN headcase 215 respiratory tube development 0 GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387) AGGGAGGCCTCCTGGTGAGGC 0.597 NaN 0 0 0 1 0 14 48 SHPRH 257218 broad.mit.edu 37 6 146275900 146275900 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:146275900C>G uc003qlf.2 - 2 958 c.559G>C c.(559-561)GAA>CAA p.E187Q SHPRH_uc003qld.2_Missense_Mutation_p.E187Q|SHPRH_uc003qle.2_Missense_Mutation_p.E187Q|SHPRH_uc003qlg.1_5'UTR|SHPRH_uc003qlj.1_Missense_Mutation_p.E76Q|SHPRH_uc003qlk.1_Missense_Mutation_p.E187Q NM_001042683 NP_001036148 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase isoform a 187 DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding ovary(1)|kidney(1)|central_nervous_system(1) 3 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) CCCAAATCTTCTAACATTTCA 0.363 NaN 0 0 0 1 0 15 70 SLC22A3 6581 broad.mit.edu 37 6 160769463 160769463 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:160769463C>G uc003qti.2 + 1 39 c.12C>G c.(10-12)TTC>TTG p.F4L SLC22A3_uc011efx.1_RNA NM_021977 NP_068812 O75751 S22A3_HUMAN solute carrier family 22 member 3 4 integral to plasma membrane|membrane fraction protein binding|quaternary ammonium group transmembrane transporter activity skin(2)|ovary(1)|central_nervous_system(1) 4 Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218) OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06) TGCCCTCCTTCGACGAGGCGC 0.577 NaN 0 0 0 1 0 12 33 LPA 4018 broad.mit.edu 37 6 161015047 161015047 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:161015047G>A uc003qtl.2 - 23 3692 c.3572C>T c.(3571-3573)TCT>TTT p.S1191F NM_005577 NP_005568 P08519 APOA_HUMAN lipoprotein Lp(a) precursor 3699 Kringle 33. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity ovary(3)|skin(2)|pancreas(1) 6 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) AGAGGACCAAGACTGACATGT 0.498 NaN 0 0 0 1 0 34 84 TTLL2 83887 broad.mit.edu 37 6 167754887 167754887 + Nonsense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:167754887C>G uc003qvs.1 + 3 1587 c.1499C>G c.(1498-1500)TCA>TGA p.S500* TTLL2_uc011egr.1_RNA NM_031949 NP_114155 Q9BWV7 TTLL2_HUMAN tubulin tyrosine ligase-like family, member 2 500 protein modification process ATP binding|tubulin-tyrosine ligase activity ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(66;7.8e-06)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) TTTCATCTGTCAACAAGGGAG 0.567 NaN 0 0 0 1 0 18 91 GET4 51608 broad.mit.edu 37 7 926275 926275 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:926275G>A uc003sjl.1 + 3 396 c.304G>A c.(304-306)GAC>AAC p.D102N GET4_uc003sjj.1_RNA NM_015949 NP_057033 Q7L5D6 GET4_HUMAN hypothetical protein LOC51608 102 tail-anchored membrane protein insertion into ER membrane|transport BAT3 complex protein binding 0 GGAGGTGGCTGACGAGCTGCT 0.607 NaN 0 0 0 1 0 30 76 RBAK 57786 broad.mit.edu 37 7 5104113 5104113 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:5104113G>C uc010kss.1 + 6 1350 c.1026G>C c.(1024-1026)GAG>GAC p.E342D LOC389458_uc003snr.2_Intron|RBAK_uc003sns.1_Missense_Mutation_p.E342D NM_021163 NP_066986 Q9NYW8 RBAK_HUMAN RB-associated KRAB repressor 342 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding ovary(3)|kidney(1)|skin(1) 5 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14) ATTCAGGAGAGAAACCCTACG 0.443 NaN 0 0 0 1 0 40 104 RBAK 57786 broad.mit.edu 37 7 5104735 5104735 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:5104735G>C uc010kss.1 + 6 1972 c.1648G>C c.(1648-1650)GAG>CAG p.E550Q LOC389458_uc003snr.2_Intron|RBAK_uc003sns.1_Missense_Mutation_p.E550Q NM_021163 NP_066986 Q9NYW8 RBAK_HUMAN RB-associated KRAB repressor 550 Interaction with AR.|C2H2-type 11. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding ovary(3)|kidney(1)|skin(1) 5 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14) GTTATTCAATGAGTTGTCATA 0.388 NaN 0 0 0 1 0 15 44 ACTB 60 broad.mit.edu 37 7 5567464 5567464 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:5567464G>C uc003sos.3 - 5 1079 c.1043C>G c.(1042-1044)TCG>TGG p.S348W ACTB_uc003sor.3_Missense_Mutation_p.S226W|ACTB_uc003sot.3_Missense_Mutation_p.S348W|ACTB_uc003soq.3_Missense_Mutation_p.S226W|ACTB_uc010ksy.2_Missense_Mutation_p.S226W NM_001101 NP_001092 P60709 ACTB_HUMAN beta actin 348 'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton 0 Ovarian(82;0.0606) UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37) GGTGGACAGCGAGGCCAGGAT 0.587 NaN 0 0 0 1 0 34 137 USP42 84132 broad.mit.edu 37 7 6193699 6193699 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:6193699G>A uc011jwo.1 + 15 2637 c.2514G>A c.(2512-2514)ATG>ATA p.M838I USP42_uc011jwp.1_Missense_Mutation_p.M838I|USP42_uc011jwq.1_Missense_Mutation_p.M645I|USP42_uc011jwr.1_Missense_Mutation_p.M683I NM_032172 NP_115548 Q9H9J4 UBP42_HUMAN ubiquitin specific peptidase 42 838 Pro-rich. cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity skin(2)|ovary(1)|pancreas(1)|breast(1) 5 Ovarian(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14) CAAAGGGGATGATCGCGGAGG 0.701 NaN 0 0 0 1 0 32 94 ZNF12 7559 broad.mit.edu 37 7 6731839 6731839 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:6731839C>G uc003sqt.1 - 5 1288 c.734G>C c.(733-735)GGA>GCA p.G245A ZNF12_uc011jxa.1_Missense_Mutation_p.G83A|ZNF12_uc003sqs.1_Missense_Mutation_p.G207A NM_016265 NP_057349 P17014 ZNF12_HUMAN zinc finger protein 12 isoform a 245 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.0231) TATTTCAGATCCATTCCACTT 0.393 NaN 0 0 0 1 0 11 32 ZNF12 7559 broad.mit.edu 37 7 6731904 6731904 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:6731904C>G uc003sqt.1 - 5 1223 c.669G>C c.(667-669)CAG>CAC p.Q223H ZNF12_uc011jxa.1_Missense_Mutation_p.Q61H|ZNF12_uc003sqs.1_Missense_Mutation_p.Q185H NM_016265 NP_057349 P17014 ZNF12_HUMAN zinc finger protein 12 isoform a 223 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.0231) GGAAGGCTTTCTGGCATTCAA 0.348 NaN 0 0 0 1 0 3 26 SNX13 23161 broad.mit.edu 37 7 17931249 17931249 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:17931249C>T uc003stw.1 - 4 451 c.238G>A c.(238-240)GAA>AAA p.E80K SNX13_uc003stv.2_Missense_Mutation_p.E80K|SNX13_uc010kuc.2_5'UTR|SNX13_uc003stx.1_5'UTR|SNX13_uc003sty.2_Missense_Mutation_p.E80K Q9Y5W8 SNX13_HUMAN SubName: Full=Putative uncharacterized protein SNX13; SubName: Full=Sorting nexin 13, isoform CRA_g; 80 cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity early endosome membrane phosphatidylinositol binding|signal transducer activity central_nervous_system(2)|kidney(1) 3 Lung NSC(10;0.0261)|all_lung(11;0.0521) CGTTTCATTTCTTCTAAGCAC 0.368 NaN 0 0 0 1 0 5 21 DNAH11 8701 broad.mit.edu 37 7 21640356 21640356 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:21640356G>A uc003svc.2 + 16 3094 c.3063G>A c.(3061-3063)GTG>GTA p.V1021V NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 1021 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 ACAGAGTGGTGAATGTCATCA 0.428 NaN Kartagener_syndrome 0 0 0 1 0 47 145 DNAH11 8701 broad.mit.edu 37 7 21856220 21856220 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:21856220G>A uc003svc.2 + 65 10520 c.10489G>A c.(10489-10491)GAG>AAG p.E3497K NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 3497 AAA 5 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 AACACACTGTGAGCGCTGGCC 0.488 NaN Kartagener_syndrome 0 0 0 1 0 9 27 HNRNPA2B1 3181 broad.mit.edu 37 7 26236541 26236541 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:26236541C>G uc003sxr.3 - 5 613 c.397G>C c.(397-399)GAG>CAG p.E133Q HNRNPA2B1_uc003sxs.3_Missense_Mutation_p.E121Q NM_031243 NP_112533 P22626 ROA2_HUMAN heterogeneous nuclear ribonucleoprotein A2/B1 133 RRM 2. RNA transport catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm nucleotide binding|protein binding|protein binding|RNA binding|single-stranded telomeric DNA binding ovary(1)|central_nervous_system(1)|skin(1) 3 CCATATTCCTCAAAGTAATCT 0.383 NaN T ETV1 prostate 0 0 0 1 0 43 90 HNRNPA2B1 3181 broad.mit.edu 37 7 26240221 26240221 + Translation_Start_Site SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:26240221G>C uc003sxr.3 - 1 193 c.-23C>G c.(-25--21)ATCGG>ATGGG HNRNPA2B1_uc003sxs.3_Translation_Start_Site|CBX3_uc003sxt.2_5'Flank|CBX3_uc003sxu.2_5'Flank|CBX3_uc003sxv.2_5'Flank NM_031243 NP_112533 P22626 ROA2_HUMAN heterogeneous nuclear ribonucleoprotein A2/B1 RNA transport catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm nucleotide binding|protein binding|protein binding|RNA binding|single-stranded telomeric DNA binding ovary(1)|central_nervous_system(1)|skin(1) 3 GCTTCAGCCCGATTTCCCGCA 0.577 NaN T ETV1 prostate 0 0 0 1 0 48 166 CHN2 1124 broad.mit.edu 37 7 29440222 29440222 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:29440222G>C uc003szz.2 + 6 791 c.354G>C c.(352-354)AAG>AAC p.K118N CHN2_uc011jzs.1_Missense_Mutation_p.K193N|CHN2_uc010kva.2_Intron|CHN2_uc010kvb.2_Intron|CHN2_uc010kvc.2_Missense_Mutation_p.K83N|CHN2_uc011jzt.1_Missense_Mutation_p.K131N|CHN2_uc010kvd.2_Intron|CHN2_uc011jzu.1_Missense_Mutation_p.K103N NM_004067 NP_004058 P52757 CHIO_HUMAN beta chimerin isoform 2 118 SH2. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|membrane GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity ovary(2) 2 TGGGTGAGAAGAGGTTTGAGT 0.448 NaN 0 0 0 1 0 24 65 GHRHR 2692 broad.mit.edu 37 7 31013635 31013635 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:31013635C>T uc003tbx.2 + 7 681 c.633C>T c.(631-633)TTC>TTT p.F211F GHRHR_uc003tbw.1_Silent_p.F211F|GHRHR_uc003tby.2_Silent_p.F147F|GHRHR_uc003tbz.2_Intron NM_000823 NP_000814 Q02643 GHRHR_HUMAN growth hormone releasing hormone receptor 211 Helical; Name=3; (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding ovary(2)|lung(1)|breast(1)|large_intestine(1) 5 Sermorelin(DB00010) CCTCCCATTTCGCCACCATGA 0.627 NaN 0 0 0 1 0 40 85 ADCYAP1R1 117 broad.mit.edu 37 7 31126105 31126105 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:31126105C>T uc003tca.1 + 10 1000 c.777C>T c.(775-777)TTC>TTT p.F259F ADCYAP1R1_uc003tcb.1_Silent_p.F238F|ADCYAP1R1_uc003tcc.1_Silent_p.F259F|ADCYAP1R1_uc003tcd.1_Silent_p.F259F|ADCYAP1R1_uc003tce.1_Silent_p.F259F|ADCYAP1R1_uc003tcf.1_5'Flank NM_001118 NP_001109 P41586 PACR_HUMAN adenylate cyclase activating polypeptide 1 259 Cytoplasmic (Potential). activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis integral to plasma membrane vasoactive intestinal polypeptide receptor activity ovary(1) 1 TGGAGACCTTCTTCCCTGAAA 0.532 NaN 0 0 0 1 0 9 48 KBTBD2 25948 broad.mit.edu 37 7 32914744 32914744 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:32914744C>T uc003tdb.2 - 3 855 c.196G>A c.(196-198)GAA>AAA p.E66K AVL9_uc011kai.1_Intron NM_015483 NP_056298 Q8IY47 KBTB2_HUMAN kelch repeat and BTB (POZ) domain containing 2 66 BTB. 0 GBM - Glioblastoma multiforme(11;0.0499) TGTTTGCTTTCACTTAGTCCA 0.393 NaN 0 0 0 1 0 35 142 ELMO1 9844 broad.mit.edu 37 7 37298857 37298857 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:37298857G>A uc003tfk.1 - 6 649 c.342C>T c.(340-342)GTC>GTT p.V114V ELMO1_uc011kbc.1_Silent_p.V18V|ELMO1_uc010kxg.1_Silent_p.V114V NM_014800 NP_055615 Q92556 ELMO1_HUMAN engulfment and cell motility 1 isoform 1 114 actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding ovary(3)|skin(2)|upper_aerodigestive_tract(1) 6 GGGCAAACGTGACATCCCGGG 0.547 NaN 0 0 0 1 0 11 40 CAMK2B 816 broad.mit.edu 37 7 44364973 44364973 + Silent SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:44364973G>C uc003tkq.2 - 1 258 c.48C>G c.(46-48)CTC>CTG p.L16L CAMK2B_uc003tkp.2_Silent_p.L16L|CAMK2B_uc003tkx.2_Silent_p.L16L|CAMK2B_uc010kyd.2_RNA|CAMK2B_uc003tkr.2_Silent_p.L16L|CAMK2B_uc003tks.2_Silent_p.L16L|CAMK2B_uc003tku.2_Silent_p.L16L|CAMK2B_uc003tkv.2_Silent_p.L16L|CAMK2B_uc003tkt.2_Silent_p.L16L|CAMK2B_uc003tkw.2_Silent_p.L16L|CAMK2B_uc010kyc.2_Silent_p.L16L NM_001220 NP_001211 Q13554 KCC2B_HUMAN calcium/calmodulin-dependent protein kinase II 16 Protein kinase. interferon-gamma-mediated signaling pathway|synaptic transmission cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity large_intestine(1)|ovary(1) 2 TATCCTCGTAGAGCTGGTACT 0.756 NaN 0 0 0 1 0 6 10 NPC1L1 29881 broad.mit.edu 37 7 44576463 44576463 + Missense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:44576463G>T uc003tlb.2 - 3 1715 c.1659C>A c.(1657-1659)TTC>TTA p.F553L NPC1L1_uc003tlc.2_Missense_Mutation_p.F553L|NPC1L1_uc011kbw.1_Missense_Mutation_p.F553L|NPC1L1_uc003tld.2_Missense_Mutation_p.F553L NM_013389 NP_037521 Q9UHC9 NPCL1_HUMAN Niemann-Pick C1-like protein 1 isoform 1 553 Extracellular (Potential). cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding ovary(3)|central_nervous_system(1)|skin(1) 5 Ezetimibe(DB00973) CAATGGCAAGGAAGGGGAAGA 0.597 NaN 1 0 1.9806e-07 1 2.0496e-07 23 62 ABCA13 154664 broad.mit.edu 37 7 48273724 48273724 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:48273724G>A uc003toq.2 + 8 898 c.873G>A c.(871-873)CTG>CTA p.L291L ABCA13_uc010kyr.2_5'UTR NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 291 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 AACAGATCCTGAACTCTTCAG 0.502 NaN 0 0 0 1 0 26 78 EGFR 1956 broad.mit.edu 37 7 55270282 55270282 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:55270282G>A uc003tqk.2 + 27 3481 c.3235G>A c.(3235-3237)GAG>AAG p.E1079K EGFR_uc010kzg.1_Missense_Mutation_p.E1034K|EGFR_uc011kco.1_Missense_Mutation_p.E1026K NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 1079 Cytoplasmic (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) CGCCTTGACTGAGGACAGCAT 0.567 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 0 0 0 1 0 8 18 ZNF107 51427 broad.mit.edu 37 7 64168318 64168318 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:64168318C>T uc003ttd.2 + 7 2422 c.1636C>T c.(1636-1638)CAT>TAT p.H546Y ZNF107_uc003tte.2_Missense_Mutation_p.H546Y NM_016220 NP_057304 Q9UII5 ZN107_HUMAN zinc finger protein 107 546 C2H2-type 17; atypical. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Lung NSC(55;0.00948)|all_lung(88;0.0249) TAAAATTATTCATACTGGAGA 0.348 NaN 0 0 0 1 0 11 35 SBDS 51119 broad.mit.edu 37 7 66453431 66453431 + Missense_Mutation SNP T T C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:66453431T>C uc003tvm.1 - 5 864 c.680A>G c.(679-681)GAA>GGA p.E227G NM_016038 NP_057122 Q9Y3A5 SBDS_HUMAN Shwachman-Bodian-Diamond syndrome protein 227 bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|ribosomal large subunit biogenesis|rRNA processing cytoplasm|nucleolus|nucleoplasm|spindle pole microtubule binding|ribosome binding|rRNA binding ovary(1) 1 GCCTTTAGTTTCCTTTTTTAT 0.388 NaN Gene Conversion AML|MDS Shwachman-Diamond_syndrome 0 0 0 1 0 16 48 CACNA2D1 781 broad.mit.edu 37 7 81600022 81600022 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:81600022C>G uc003uhr.1 - 27 2429 c.2173G>C c.(2173-2175)GAT>CAT p.D725H CACNA2D1_uc011kgy.1_5'UTR NM_000722 NP_000713 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 737 Extracellular (Potential). voltage-gated calcium channel complex metal ion binding ovary(5)|pancreas(1) 6 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) ATCCCACCATCAGTCACAACA 0.353 NaN 0 0 0 1 0 12 73 STEAP1 26872 broad.mit.edu 37 7 89790200 89790200 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:89790200G>C uc003ujx.2 + 3 366 c.166G>C c.(166-168)GAC>CAC p.D56H STEAP1_uc010lem.2_Missense_Mutation_p.D56H NM_012449 NP_036581 Q9UHE8 STEA1_HUMAN six transmembrane epithelial antigen of the 56 electron transport chain|ion transport|iron ion homeostasis cell-cell junction|endosome membrane|integral to plasma membrane channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity 0 all_hematologic(106;0.112) TGATGAATTTGACTGCCCTTC 0.423 NaN 0 0 0 1 0 40 155 SAMD9 54809 broad.mit.edu 37 7 92732279 92732279 + Missense_Mutation SNP T T A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:92732279T>A uc003umf.2 - 3 3388 c.3132A>T c.(3130-3132)GAA>GAT p.E1044D SAMD9_uc003umg.2_Missense_Mutation_p.E1044D NM_017654 NP_060124 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 1044 cytoplasm ovary(3)|skin(2)|breast(1)|central_nervous_system(1) 7 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) CTGTTTCACCTTCATGTTCAT 0.378 NaN 0 0 0 1 0 19 35 TFPI2 7980 broad.mit.edu 37 7 93516176 93516176 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:93516176G>A uc003umy.1 - 5 739 c.664C>T c.(664-666)CGC>TGC p.R222C GNGT1_uc003umx.1_Intron|TFPI2_uc003umz.1_3'UTR|TFPI2_uc003una.1_Missense_Mutation_p.R211C|TFPI2_uc003unb.1_Missense_Mutation_p.R228C|TFPI2_uc010lfg.1_Missense_Mutation_p.R98C NM_006528 NP_006519 P48307 TFPI2_HUMAN tissue factor pathway inhibitor 2 precursor 222 blood coagulation proteinaceous extracellular matrix extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity pancreas(1) 1 all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218) STAD - Stomach adenocarcinoma(171;0.000967) CTGGCAAAGCGAAGCTTTGGC 0.328 NaN 0 0 0 1 0 11 52 PEG10 23089 broad.mit.edu 37 7 94293511 94293511 + Nonsense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:94293511C>T uc011kie.1 + 2 1088 c.871C>T c.(871-873)CAG>TAG p.Q291* NM_001040152 NP_001035242 Q86TG7 PEG10_HUMAN paternally expressed 10 isoform RF1 215 Necessary for interaction with ALK1. apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway cytoplasm|nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(1) 1 all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) CGACCACATTCAGGAGGAGCT 0.582 NaN 0 0 0 1 0 38 131 PON1 5444 broad.mit.edu 37 7 94935662 94935662 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:94935662C>G uc003uns.2 - 7 812 c.715G>C c.(715-717)GAG>CAG p.E239Q PON1_uc011kih.1_Missense_Mutation_p.E239Q NM_000446 NP_000437 P27169 PON1_HUMAN paraoxonase 1 precursor 239 aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus spherical high-density lipoprotein particle aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity pancreas(1) 1 all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239) STAD - Stomach adenocarcinoma(171;0.0031) Atorvastatin(DB01076)|Cefazolin(DB01327) GCCAGCAACTCAGCTATATAG 0.353 NaN 0 0 0 1 0 20 64 TRRAP 8295 broad.mit.edu 37 7 98533223 98533223 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:98533223G>A uc003upp.2 + 28 4245 c.4036G>A c.(4036-4038)GAA>AAA p.E1346K TRRAP_uc011kis.1_Missense_Mutation_p.E1346K|TRRAP_uc003upr.2_Missense_Mutation_p.E1038K NM_003496 NP_003487 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated 1346 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1) 37 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) GTGTGAGGCTGAAGATTCAGC 0.388 NaN 0 0 0 1 0 7 30 PDAP1 11333 broad.mit.edu 37 7 99002548 99002548 + Silent SNP C C T rs139029496 TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:99002548C>T uc003uqe.2 - 2 163 c.42G>A c.(40-42)GCG>GCA p.A14A NM_014891 NP_055706 Q13442 HAP28_HUMAN PDGFA associated protein 1 14 cell proliferation|signal transduction 0 all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) Becaplermin(DB00102) TATACTGCCTCGCCCGGCCTT 0.632 NaN 0 0 0 1 0 15 62 BUD31 8896 broad.mit.edu 37 7 99013816 99013816 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:99013816C>G uc003uqf.2 + 4 351 c.150C>G c.(148-150)TTC>TTG p.F50L BUD31_uc011kiu.1_Missense_Mutation_p.F50L|BUD31_uc011kiv.1_Missense_Mutation_p.F50L|BUD31_uc003uqg.3_Missense_Mutation_p.F50L NM_003910 NP_003901 P41223 BUD31_HUMAN G10 protein 50 regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity ovary(1) 1 all_cancers(62;1.76e-08)|all_epithelial(64;1.63e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) GGCCCATCTTCAGGATCCACC 0.493 NaN 0 0 0 1 0 30 79 CPSF4 10898 broad.mit.edu 37 7 99050001 99050001 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:99050001G>C uc003uqj.2 + 6 651 c.508G>C c.(508-510)GAA>CAA p.E170Q PTCD1_uc011kiw.1_Intron|CPSF4_uc003uqi.2_Missense_Mutation_p.E170Q|CPSF4_uc003uqk.2_Missense_Mutation_p.E170Q|CPSF4_uc011kix.1_Missense_Mutation_p.E117Q NM_006693 NP_006684 O95639 CPSF4_HUMAN cleavage and polyadenylation specific factor 4, 170 modification by virus of host mRNA processing|mRNA processing|viral infectious cycle mRNA cleavage and polyadenylation specificity factor complex RNA binding|zinc ion binding central_nervous_system(1) 1 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) CCCTCGATTTGAACTGCCCAT 0.592 NaN 0 0 0 1 0 71 243 CYP3A43 64816 broad.mit.edu 37 7 99453289 99453289 + Nonsense_Mutation SNP T T A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:99453289T>A uc003urx.1 + 8 849 c.746T>A c.(745-747)TTA>TAA p.L249* CYP3A43_uc003ury.1_Nonsense_Mutation_p.L249*|CYP3A43_uc003urz.1_Nonsense_Mutation_p.L249*|CYP3A43_uc003usa.1_RNA|CYP3A43_uc010lgi.1_Nonsense_Mutation_p.L139*|CYP3A43_uc003usb.1_Intron NM_057095 NP_476436 Q9HB55 CP343_HUMAN cytochrome P450, family 3, subfamily A, 249 Missing (in allele CYP3A43*2). xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding ovary(1)|skin(1) 2 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) Cetirizine(DB00341)|Doxycycline(DB00254) ACCCATTTTTTAAAAAATTCC 0.244 NaN 0 0 0 1 0 7 17 PILRB 29990 broad.mit.edu 37 7 99957061 99957061 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:99957061C>T uc003uuk.2 + 17 3052 c.556C>T c.(556-558)CTG>TTG p.L186L PILRB_uc003uul.2_Missense_Mutation_p.S116F|PILRB_uc003uun.2_Silent_p.L186L NM_013440 NP_038468 Q9UKJ0 PILRB_HUMAN paired immunoglobulin-like type 2 receptor beta 186 Extracellular (Potential). activation of transmembrane receptor protein tyrosine kinase activity integral to plasma membrane protein binding|receptor activity 0 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GCACCTAAGTCTGGACACTGC 0.562 NaN 0 0 0 1 0 22 76 C7orf51 222950 broad.mit.edu 37 7 100084635 100084635 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:100084635C>T uc003uvd.1 + 3 419 c.260C>T c.(259-261)TCG>TTG p.S87L C7orf51_uc003uve.1_5'Flank NM_173564 NP_775835 Q6ZVC0 CG051_HUMAN hypothetical protein FLJ37538 87 skin(1) 1 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TCCTGCCACTCGGTGGGCAGC 0.711 NaN 0 0 0 1 0 7 34 C7orf51 222950 broad.mit.edu 37 7 100086600 100086600 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:100086600G>A uc003uvd.1 + 4 1415 c.1256G>A c.(1255-1257)CGG>CAG p.R419Q C7orf51_uc003uve.1_Missense_Mutation_p.R201Q NM_173564 NP_775835 Q6ZVC0 CG051_HUMAN hypothetical protein FLJ37538 419 Pro-rich. skin(1) 1 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GGCCAGCCCCGGGGGGAGCGG 0.577 NaN 0 0 0 1 0 6 31 ACTL6B 51412 broad.mit.edu 37 7 100245112 100245112 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:100245112C>T uc003uvy.2 - 8 821 c.714G>A c.(712-714)GAG>GAA p.E238E ACTL6B_uc003uvx.1_Silent_p.E29E|ACTL6B_uc003uvz.2_RNA NM_016188 NP_057272 O94805 ACL6B_HUMAN actin-like 6B 238 chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nBAF complex|SWI/SNF complex ATP binding|protein binding|structural constituent of cytoskeleton ovary(1) 1 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) GGGGTAGCTTCTCCTTCTTCT 0.612 NaN 0 0 0 1 0 27 99 EPO 2056 broad.mit.edu 37 7 100320678 100320678 + Silent SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:100320678C>G uc003uwi.2 + 5 685 c.504C>G c.(502-504)CTC>CTG p.L168L EPO_uc011kkc.1_Silent_p.L167L NM_000799 NP_000790 P01588 EPO_HUMAN erythropoietin precursor 168 blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction extracellular space erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity central_nervous_system(2) 2 Lung NSC(181;0.041)|all_lung(186;0.0581) Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016) TCCGCAAACTCTTCCGAGTCT 0.567 NaN 0 0 0 1 0 57 169 PLOD3 8985 broad.mit.edu 37 7 100856159 100856159 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:100856159G>A uc003uyd.2 - 8 1299 c.843C>T c.(841-843)TTC>TTT p.F281F PLOD3_uc010lhs.2_5'Flank NM_001084 NP_001075 O60568 PLOD3_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 281 protein modification process 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 binding ovary(1)|skin(1) 2 Lung NSC(181;0.168)|all_lung(186;0.215) Succinic acid(DB00139)|Vitamin C(DB00126) CCTGGTTGCAGAAGCCACAGC 0.647 NaN 0 0 0 1 0 19 43 FBXL13 222235 broad.mit.edu 37 7 102462632 102462632 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:102462632C>G uc003vaq.2 - 19 2300 c.1873G>C c.(1873-1875)GAG>CAG p.E625Q FBXL13_uc010liq.1_Missense_Mutation_p.E158Q|FBXL13_uc010lir.1_Missense_Mutation_p.E580Q|FBXL13_uc003var.2_RNA|FBXL13_uc003vas.2_Missense_Mutation_p.E597Q|FAM185A_uc011klh.1_Intron NM_145032 NP_659469 Q8NEE6 FXL13_HUMAN F-box and leucine-rich repeat protein 13 isoform 625 LRR 16. 0 GATAACATCTCCATTGCTGAG 0.373 NaN 0 0 0 1 0 19 56 SLC26A5 375611 broad.mit.edu 37 7 103017300 103017300 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:103017300C>G uc003vbz.2 - 19 2232 c.1996G>C c.(1996-1998)GAA>CAA p.E666Q SLC26A5_uc003vbt.1_Missense_Mutation_p.E666Q|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|SLC26A5_uc003vbw.2_RNA|SLC26A5_uc003vbx.2_Missense_Mutation_p.E634Q|SLC26A5_uc003vby.2_RNA|SLC26A5_uc010liy.2_RNA NM_198999 NP_945350 P58743 S26A5_HUMAN prestin isoform a 666 Cytoplasmic (Potential).|STAS. regulation of cell shape|sensory perception of sound integral to membrane secondary active sulfate transmembrane transporter activity ovary(1) 1 TCTCCATATTCTTTTACAATC 0.328 NaN 0 0 0 1 0 5 34 DOCK4 9732 broad.mit.edu 37 7 111541796 111541796 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:111541796C>T uc003vfx.2 - 14 1523 c.1254G>A c.(1252-1254)AAG>AAA p.K418K DOCK4_uc003vfy.2_Silent_p.K418K|DOCK4_uc003vga.1_Silent_p.K23K NM_014705 NP_055520 Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 418 DHR-1. cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(1;0.0441) TGGCCACGCTCTTCCCTCCTT 0.358 NaN 0 0 0 1 0 7 24 MDFIC 29969 broad.mit.edu 37 7 114655760 114655760 + Missense_Mutation SNP T T C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:114655760T>C uc003vhf.2 + 5 1102 c.839T>C c.(838-840)ATC>ACC p.I280T NM_199072 NP_951038 Q9P1T7 MDFIC_HUMAN MyoD family inhibitor domain containing protein 171 Cys-rich. activation of JUN kinase activity|interspecies interaction between organisms|negative regulation of protein import into nucleus|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|regulation of Wnt receptor signaling pathway|transcription, DNA-dependent cytoplasm|cytoplasm|nucleolus|nucleolus|nucleus cyclin binding|Tat protein binding ovary(1) 1 GTCCACTGTATCCTGGCTTGC 0.443 NaN 0 0 0 1 0 92 317 CTTNBP2 83992 broad.mit.edu 37 7 117431347 117431347 + Nonsense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:117431347G>A uc003vjf.2 - 4 1995 c.1903C>T c.(1903-1905)CAG>TAG p.Q635* NM_033427 NP_219499 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 635 ovary(4)|central_nervous_system(1) 5 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) GCACCCACCTGAGACGTGGCC 0.552 NaN 0 0 0 1 0 15 55 C7orf58 79974 broad.mit.edu 37 7 120764493 120764493 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:120764493G>A uc003vjq.3 + 8 1474 c.1027G>A c.(1027-1029)GAA>AAA p.E343K C7orf58_uc003vjr.1_Missense_Mutation_p.E343K|C7orf58_uc003vjs.3_Missense_Mutation_p.E343K|C7orf58_uc003vjt.3_Missense_Mutation_p.E123K|C7orf58_uc010lkk.1_Missense_Mutation_p.E123K NM_024913 NP_079189 A4D0V7 CG058_HUMAN hypothetical protein LOC79974 isoform 1 343 endoplasmic reticulum ovary(4)|large_intestine(2)|skin(2)|pancreas(1) 9 all_neural(327;0.117) AGTATTCAGTGAAACATCTAC 0.338 NaN 0 0 0 1 0 7 35 AASS 10157 broad.mit.edu 37 7 121738811 121738811 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:121738811C>G uc003vka.2 - 13 1612 c.1516G>C c.(1516-1518)GAA>CAA p.E506Q AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Missense_Mutation_p.E506Q|AASS_uc011knw.1_Intron NM_005763 NP_005754 Q9UDR5 AASS_HUMAN aminoadipate-semialdehyde synthase precursor 506 Saccharopine dehydrogenase. protein tetramerization mitochondrial matrix binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity upper_aerodigestive_tract(1)|ovary(1) 2 L-Glutamic Acid(DB00142)|NADH(DB00157) ACTGTTATTTCTATATTGCCA 0.333 NaN 0 0 0 1 0 14 33 CPA2 1358 broad.mit.edu 37 7 129916530 129916530 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:129916530C>T uc003vpq.2 + 7 667 c.648C>T c.(646-648)TTC>TTT p.F216F CPA2_uc011kpc.1_Silent_p.F216F NM_001869 NP_001860 P48052 CBPA2_HUMAN carboxypeptidase A2 (pancreatic) precursor 216 proteolysis|vacuolar protein catabolic process extracellular region|vacuole metallocarboxypeptidase activity|zinc ion binding ovary(1) 1 Melanoma(18;0.0435) TGGATATCTTCCTCCTGCCAG 0.453 NaN 0 0 0 1 0 24 89 CPA1 1357 broad.mit.edu 37 7 130027841 130027841 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:130027841C>T uc003vpx.2 + 10 1321 c.1249C>T c.(1249-1251)CAC>TAC p.H417Y NM_001868 NP_001859 P15085 CBPA1_HUMAN carboxypeptidase A1 precursor 417 proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding ovary(1) 1 Melanoma(18;0.0435) CACCCTGAATCACCCCTACTG 0.567 NaN 0 0 0 1 0 66 233 TMEM140 55281 broad.mit.edu 37 7 134849404 134849404 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:134849404G>A uc003vsi.2 + 2 492 c.211G>A c.(211-213)GAA>AAA p.E71K C7orf49_uc003vsh.2_Intron NM_018295 NP_060765 Q9NV12 TM140_HUMAN transmembrane protein 140 71 Extracellular (Potential). integral to membrane large_intestine(1) 1 CCCTGAGCTGGAAGCCCTGGG 0.622 NaN 0 0 0 1 0 48 115 MGAM 8972 broad.mit.edu 37 7 141721466 141721466 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:141721466G>C uc003vwy.2 + 6 693 c.639G>C c.(637-639)TTG>TTC p.L213F NM_004668 NP_004659 O43451 MGA_HUMAN maltase-glucoamylase 213 Lumenal (Potential).|Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity ovary(2) 2 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CTGCTTCTTTGACCTACCAAG 0.428 NaN 0 0 0 1 0 16 64 EPHB6 2051 broad.mit.edu 37 7 142566063 142566063 + Silent SNP T T C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:142566063T>C uc011kst.1 + 14 2770 c.1983T>C c.(1981-1983)CTT>CTC p.L661L EPHB6_uc011ksu.1_Silent_p.L661L|EPHB6_uc003wbs.2_Silent_p.L369L|EPHB6_uc003wbt.2_Silent_p.L135L|EPHB6_uc003wbu.2_Silent_p.L369L|EPHB6_uc003wbv.2_Silent_p.L45L NM_004445 NP_004436 O15197 EPHB6_HUMAN ephrin receptor EphB6 precursor 661 Cytoplasmic (Potential). extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1) 19 Melanoma(164;0.059) TCCGAGAACTTGCCCGGGAAG 0.567 NaN 0 0 0 1 0 20 79 TRPV5 56302 broad.mit.edu 37 7 142612712 142612712 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:142612712G>A uc003wby.1 - 9 1413 c.1149C>T c.(1147-1149)ATC>ATT p.I383I NM_019841 NP_062815 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, 383 Extracellular (Potential). protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity ovary(3)|central_nervous_system(2)|skin(1) 6 Melanoma(164;0.059) CCAGCCTGATGATATCTTCAC 0.527 NaN 0 0 0 1 0 16 50 CUL1 8454 broad.mit.edu 37 7 148457547 148457547 + Nonsense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:148457547G>T uc010lpg.2 + 7 1274 c.748G>T c.(748-750)GAA>TAA p.E250* CUL1_uc003wey.2_Nonsense_Mutation_p.E250*|CUL1_uc003wez.2_Nonsense_Mutation_p.E140* NM_003592 NP_003583 Q13616 CUL1_HUMAN cullin 1 250 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytosol|nucleoplasm|SCF ubiquitin ligase complex ubiquitin protein ligase binding lung(1) 1 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00291) AGAGAGTACTGAATTCTTGCA 0.348 NaN 1 0 3.7052e-28 1 3.95767e-28 42 99 EZH2 2146 broad.mit.edu 37 7 148512132 148512132 + Splice_Site SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:148512132C>G uc003wfd.1 - 14 1698 c.1532_splice c.e14-1 p.D511_splice EZH2_uc011kug.1_Intron|EZH2_uc003wfb.1_Splice_Site_p.D516_splice|EZH2_uc003wfc.1_Splice_Site_p.D472_splice|EZH2_uc011kuh.1_Splice_Site_p.D502_splice NM_004456 NP_004447 Q15910 EZH2_HUMAN enhancer of zeste 2 isoform a negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex DNA binding|histone-lysine N-methyltransferase activity|protein binding haematopoietic_and_lymphoid_tissue(180)|skin(2)|large_intestine(1) 183 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00239) GAGGAGCCGTCTGAGTAAAGA 0.443 NaN Mis DLBCL 0 0 0 1 0 8 25 EZH2 2146 broad.mit.edu 37 7 148514356 148514356 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:148514356G>A uc003wfd.1 - 11 1519 c.1353C>T c.(1351-1353)TTC>TTT p.F451F EZH2_uc011kug.1_Silent_p.F442F|EZH2_uc003wfb.1_Silent_p.F456F|EZH2_uc003wfc.1_Silent_p.F412F|EZH2_uc011kuh.1_Silent_p.F442F|EZH2_uc011kui.1_3'UTR NM_004456 NP_004447 Q15910 EZH2_HUMAN enhancer of zeste 2 isoform a 451 negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex DNA binding|histone-lysine N-methyltransferase activity|protein binding haematopoietic_and_lymphoid_tissue(180)|skin(2)|large_intestine(1) 183 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00239) CAATGGCACAGAAATTGTCAT 0.378 NaN Mis DLBCL 0 0 0 1 0 7 23 SSPO 23145 broad.mit.edu 37 7 149503891 149503891 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:149503891C>G uc010lpk.2 + 60 8719 c.8719C>G c.(8719-8721)CGG>GGG p.R2907G NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 2907 cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) TCCTTGCCCTCGGCTATGCCT 0.612 NaN 0 0 0 1 0 4 12 ABCB8 11194 broad.mit.edu 37 7 150738289 150738289 + Silent SNP C C A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:150738289C>A uc003wil.3 + 14 1731 c.1638C>A c.(1636-1638)CTC>CTA p.L546L ABCB8_uc010lpw.1_3'UTR|ABCB8_uc010lpx.2_Silent_p.L529L|ABCB8_uc011kvd.1_Silent_p.L441L|ABCB8_uc003wim.3_Silent_p.L324L|ABCB8_uc003wik.3_Silent_p.L529L NM_007188 NP_009119 Q9NUT2 ABCB8_HUMAN ATP-binding cassette, sub-family B, member 8 546 ABC transporter. ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(2)|upper_aerodigestive_tract(1) 3 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CCTCCTGGCTCCGGGGCCAGG 0.697 NaN 1 0 4.3838e-07 1 4.52823e-07 13 71 AGAP3 116988 broad.mit.edu 37 7 150835257 150835257 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:150835257C>T uc003wjg.1 + 12 1526 c.1523C>T c.(1522-1524)TCC>TTC p.S508F AGAP3_uc003wje.1_Intron|AGAP3_uc003wjj.1_Intron|AGAP3_uc003wjk.1_5'Flank NM_031946 NP_114152 Q96P47 AGAP3_HUMAN centaurin, gamma 3 isoform a 472 PH. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm|membrane ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding central_nervous_system(2)|ovary(1) 3 AGCAGCGCATCCCTGCACTCT 0.682 NaN 0 0 0 1 0 7 27 GALNT11 63917 broad.mit.edu 37 7 151802337 151802337 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:151802337G>A uc010lqg.1 + 5 824 c.594G>A c.(592-594)TTG>TTA p.L198L GALNT11_uc011kvm.1_Silent_p.L117L|GALNT11_uc003wku.2_Silent_p.L198L|GALNT11_uc011kvn.1_RNA|GALNT11_uc003wkw.1_5'Flank NM_022087 NP_071370 Q8NCW6 GLT11_HUMAN N-acetylgalactosaminyltransferase 11 198 Lumenal (Potential).|Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding 0 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.214) OV - Ovarian serous cystadenocarcinoma(82;0.00168) UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932) CAGATGATTTGAAAGGAGAAC 0.328 NaN 0 0 0 1 0 10 44 MLL3 58508 broad.mit.edu 37 7 151859702 151859702 + Nonsense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 G A G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:151859702G>A uc003wla.2 - 43 11179 c.10960C>T c.(10960-10962)CAA>TAA p.Q3654* MLL3_uc003wkz.2_Nonsense_Mutation_p.Q2715*|MLL3_uc003wky.2_Nonsense_Mutation_p.Q1163* NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 3654 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) TCGGCTTGTTGAGGAAGCTCA 0.532 NaN N medulloblastoma 0 0 0 1 0 35 100 NCAPG2 54892 broad.mit.edu 37 7 158456891 158456891 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:158456891C>T uc003wnv.1 - 15 1945 c.1800G>A c.(1798-1800)GAG>GAA p.E600E NCAPG2_uc010lqu.1_Silent_p.E392E|NCAPG2_uc003wnw.1_RNA|NCAPG2_uc003wnx.1_Silent_p.E600E|NCAPG2_uc011kwe.1_Silent_p.E600E|NCAPG2_uc011kwc.1_Silent_p.E101E|NCAPG2_uc011kwd.1_Silent_p.E101E NM_017760 NP_060230 Q86XI2 CNDG2_HUMAN leucine zipper protein 5 600 cell division|chromosome condensation|mitosis nucleus methylated histone residue binding ovary(1)|breast(1)|kidney(1) 3 Ovarian(565;0.152) all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18) CATTCTCCTTCTCCCTTCCGT 0.512 NaN 0 0 0 1 0 11 82 WDR60 55112 broad.mit.edu 37 7 158723187 158723187 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:158723187C>T uc003woe.3 + 21 2685 c.2527C>T c.(2527-2529)CTG>TTG p.L843L WDR60_uc010lqv.2_RNA|WDR60_uc010lqw.2_Silent_p.L475L NM_018051 NP_060521 Q8WVS4 WDR60_HUMAN WD repeat domain 60 843 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) ACATAGTGCTCTGATCCAGTT 0.408 NaN 0 0 0 1 0 4 16 CSMD1 64478 broad.mit.edu 37 8 4851876 4851876 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:4851876C>T uc011kwk.1 - 1 453 c.63G>A c.(61-63)GCG>GCA p.A21A NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 21 integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TGAGGAGCCTCGCGCACAGCA 0.647 NaN 0 0 0 1 0 7 46 SGK223 157285 broad.mit.edu 37 8 8175697 8175697 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:8175697C>T uc003wsh.3 - 5 4188 c.4188G>A c.(4186-4188)CTG>CTA p.L1396L NM_001080826 NP_001074295 Q86YV5 SG223_HUMAN pragmin 1396 ATP binding|non-membrane spanning protein tyrosine kinase activity 0 GCAGGAGCTTCAGCGACTGTA 0.657 NaN 0 0 0 1 0 26 57 SGK223 157285 broad.mit.edu 37 8 8176545 8176545 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:8176545C>T uc003wsh.3 - 5 3340 c.3340G>A c.(3340-3342)GAG>AAG p.E1114K NM_001080826 NP_001074295 Q86YV5 SG223_HUMAN pragmin 1114 Protein kinase. ATP binding|non-membrane spanning protein tyrosine kinase activity 0 TCGTACGCCTCGGGCTCCGCC 0.672 NaN 0 0 0 1 0 78 203 MFHAS1 9258 broad.mit.edu 37 8 8750290 8750290 + Silent SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:8750290G>C uc003wsj.1 - 1 842 c.279C>G c.(277-279)GTC>GTG p.V93V NM_004225 NP_004216 Q9Y4C4 MFHA1_HUMAN malignant fibrous histiocytoma amplified 93 LRR 2. 0 Hepatocellular(245;0.217) COAD - Colon adenocarcinoma(149;0.124) TCCTGCGCAGGACCAGGACGC 0.721 NaN 0 0 0 1 0 5 14 TNFRSF10A 8797 broad.mit.edu 37 8 23049437 23049437 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:23049437C>T uc003xda.2 - 10 1242 c.1177G>A c.(1177-1179)GAG>AAG p.E393K NM_003844 NP_003835 O00220 TR10A_HUMAN tumor necrosis factor receptor superfamily, 393 Cytoplasmic (Potential).|Death. activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding central_nervous_system(3)|ovary(2)|skin(1) 6 Prostate(55;0.0421)|Breast(100;0.14) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646) ACATCGATCTCATTTTTCGTG 0.522 NaN 0 0 0 1 0 47 51 TNFRSF10A 8797 broad.mit.edu 37 8 23049482 23049482 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:23049482C>T uc003xda.2 - 10 1197 c.1132G>A c.(1132-1134)GAC>AAC p.D378N NM_003844 NP_003835 O00220 TR10A_HUMAN tumor necrosis factor receptor superfamily, 378 Cytoplasmic (Potential).|Death. activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding central_nervous_system(3)|ovary(2)|skin(1) 6 Prostate(55;0.0421)|Breast(100;0.14) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646) TCCCAGGAGTCAAAGGGCACG 0.527 NaN 0 0 0 1 0 19 60 NEFM 4741 broad.mit.edu 37 8 24775109 24775109 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:24775109G>A uc003xed.3 + 3 1774 c.1741G>A c.(1741-1743)GAA>AAA p.E581K NEFM_uc011lac.1_Missense_Mutation_p.E581K|NEFM_uc010lue.2_Missense_Mutation_p.E205K NM_005382 NP_005373 P07197 NFM_HUMAN neurofilament, medium polypeptide 150kDa isoform 581 Tail. neurofilament protein binding|structural constituent of cytoskeleton breast(1) 1 Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) agaggaagccgaagctaaaga 0.259 NaN 0 0 0 1 0 5 23 NEFL 4747 broad.mit.edu 37 8 24811727 24811727 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:24811727C>G uc003xee.2 - 2 1239 c.1137G>C c.(1135-1137)AAG>AAC p.K379N NM_006158 NP_006149 P07196 NFL_HUMAN neurofilament, light polypeptide 68kDa 379 Rod.|Coil 2B. anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission cytosol|neurofilament identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton ovary(1)|central_nervous_system(1) 2 Ovarian(32;0.00965)|Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) CCAAAGCCATCTTCACGTTGA 0.393 NaN 0 0 0 1 0 36 139 SCARA5 286133 broad.mit.edu 37 8 27729502 27729502 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:27729502C>T uc003xgj.2 - 9 1877 c.1437G>A c.(1435-1437)GTG>GTA p.V479V SCARA5_uc010luz.2_Silent_p.V254V NM_173833 NP_776194 Q6ZMJ2 SCAR5_HUMAN scavenger receptor class A, member 5 479 SRCR.|Extracellular (Potential). cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization integral to plasma membrane ferritin receptor activity|scavenger receptor activity central_nervous_system(1)|skin(1) 2 Ovarian(32;0.0218) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228) CACAGTTTGTCACCCCCCATT 0.577 NaN 0 0 0 1 0 23 78 INTS9 55756 broad.mit.edu 37 8 28671062 28671062 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:28671062C>G uc003xha.2 - 7 855 c.556G>C c.(556-558)GAG>CAG p.E186Q INTS9_uc011lav.1_Missense_Mutation_p.E162Q|INTS9_uc011law.1_Missense_Mutation_p.E165Q|INTS9_uc011lax.1_Missense_Mutation_p.E79Q|INTS9_uc010lvc.2_RNA|INTS9_uc003xhb.2_Missense_Mutation_p.E186Q NM_018250 NP_060720 Q9NV88 INT9_HUMAN integrator complex subunit 9 isoform 1 186 snRNA processing integrator complex protein binding central_nervous_system(1)|pancreas(1) 2 Ovarian(32;0.0439) KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152) GAGTTCACCTCTTGCATTGTA 0.413 NaN 0 0 0 1 0 34 101 GSR 2936 broad.mit.edu 37 8 30560623 30560623 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:30560623C>T uc003xih.1 - 5 718 c.627G>A c.(625-627)GAG>GAA p.E209E NM_000637 NP_000628 P00390 GSHR_HUMAN glutathione reductase precursor 209 cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion cytosol|mitochondrion electron carrier activity|glutathione-disulfide reductase activity ovary(2)|pancreas(2)|central_nervous_system(1) 5 KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125) Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157) GGATCTGGCTCTCATGAGGGG 0.527 NaN 0 0 0 1 0 37 113 PURG 29942 broad.mit.edu 37 8 30889344 30889344 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:30889344C>T uc003xin.2 - 1 974 c.955G>A c.(955-957)GAA>AAA p.E319K WRN_uc003xio.3_5'Flank|PURG_uc003xim.1_Intron NM_013357 NP_037489 Q9UJV8 PURG_HUMAN purine-rich element binding protein G isoform A 319 nucleus DNA binding 0 KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108) CTCATCTCTTCTTCATACTTG 0.403 NaN 0 0 0 1 0 4 3 WRN 7486 broad.mit.edu 37 8 30969307 30969307 + Silent SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:30969307C>G uc003xio.3 + 19 3053 c.2265C>G c.(2263-2265)GTC>GTG p.V755V WRN_uc010lvk.2_Silent_p.V222V NM_000553 NP_000544 Q14191 WRN_HUMAN Werner syndrome protein 755 Helicase C-terminal. base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1) 7 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) CATTTCTTGTCAAAACAAGGT 0.328 NaN Mis|N|F|S osteosarcoma|meningioma|others Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Werner_syndrome 0 0 0 1 0 13 31 WRN 7486 broad.mit.edu 37 8 31024573 31024573 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:31024573C>T uc003xio.3 + 34 4806 c.4018C>T c.(4018-4020)CCT>TCT p.P1340S WRN_uc010lvk.2_Missense_Mutation_p.P807S NM_000553 NP_000544 Q14191 WRN_HUMAN Werner syndrome protein 1340 base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1) 7 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) AATGTTAGTTCCTGAAAACAT 0.343 NaN Mis|N|F|S osteosarcoma|meningioma|others Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Werner_syndrome 0 0 0 1 0 18 35 FUT10 84750 broad.mit.edu 37 8 33310999 33310999 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:33310999C>T uc003xje.2 - 3 467 c.111G>A c.(109-111)AGG>AGA p.R37R FUT10_uc003xjc.2_Silent_p.R44R|FUT10_uc003xjd.2_Silent_p.R9R|FUT10_uc011lbi.1_Silent_p.R87R|FUT10_uc003xjf.2_5'UTR|FUT10_uc003xjg.2_Silent_p.R9R|FUT10_uc003xjh.2_Silent_p.R37R|FUT10_uc003xji.1_Silent_p.R37R NM_032664 NP_116053 Q6P4F1 FUT10_HUMAN fucosyltransferase 10 37 Lumenal (Potential). embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154) TAAACTCCTTCCTTTCAAACT 0.363 NaN 0 0 0 1 0 19 70 KCNU1 157855 broad.mit.edu 37 8 36698504 36698504 + Silent SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:36698504C>G uc010lvw.2 + 16 1773 c.1686C>G c.(1684-1686)CTC>CTG p.L562L KCNU1_uc003xjw.2_RNA NM_001031836 NP_001027006 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 562 Cytoplasmic (Potential). voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) ACAAGTCCCTCTTTACGGATG 0.403 NaN 0 0 0 1 0 15 39 FGFR1 2260 broad.mit.edu 37 8 38282030 38282030 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:38282030C>G uc003xlp.2 - 7 1875 c.933G>C c.(931-933)TTG>TTC p.L311F FGFR1_uc011lbo.1_Missense_Mutation_p.L309F|FGFR1_uc011lbp.1_Missense_Mutation_p.L222F|FGFR1_uc011lbq.1_Missense_Mutation_p.L220F|FGFR1_uc010lwk.2_Missense_Mutation_p.L303F|FGFR1_uc011lbr.1_RNA|FGFR1_uc011lbs.1_Missense_Mutation_p.L151F|FGFR1_uc011lbt.1_Missense_Mutation_p.L220F|FGFR1_uc011lbu.1_Missense_Mutation_p.L342F|FGFR1_uc011lbv.1_Missense_Mutation_p.L309F|FGFR1_uc011lbw.1_Missense_Mutation_p.L222F|FGFR1_uc011lbx.1_Missense_Mutation_p.L222F|FGFR1_uc003xlv.2_Missense_Mutation_p.L222F|FGFR1_uc003xlu.2_Missense_Mutation_p.L220F NM_023110 NP_075598 P11362 FGFR1_HUMAN fibroblast growth factor receptor 1 isoform 1 311 Ig-like C2-type 3.|Extracellular (Potential). axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development extracellular region|integral to plasma membrane|membrane fraction ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity lung(5)|central_nervous_system(5)|stomach(2)|breast(2)|ovary(1) 15 all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442) Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065) Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24) Palifermin(DB00039) TGATTACCTTCAAGATCTGGA 0.567 1 T BCR|FOP|ZNF198|CEP1 MPD|NHL Pfeiffer syndrome|Kallman syndrome 0 0 0 1 0 34 73 ADAM18 8749 broad.mit.edu 37 8 39495221 39495221 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:39495221G>C uc003xni.2 + 9 826 c.826G>C c.(826-828)GTT>CTT p.V276L ADAM18_uc010lww.2_RNA|ADAM18_uc010lwx.2_Missense_Mutation_p.V252L NM_014237 NP_055052 Q9Y3Q7 ADA18_HUMAN a disintegrin and metalloprotease domain 18 276 Peptidase M12B.|Extracellular (Potential). cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)|kidney(1)|skin(1) 6 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) ATACTTACTTGTGTAAGCACA 0.353 NaN 0 0 0 1 0 10 18 POTEA 340441 broad.mit.edu 37 8 43147757 43147757 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:43147757G>A uc003xpz.1 + 1 173 c.130G>A c.(130-132)GGT>AGT p.G44S POTEA_uc003xqa.1_Missense_Mutation_p.G44S NM_001005365 NP_001005365 Q6S8J7 POTEA_HUMAN POTE ankyrin domain family, member A isoform 2 44 ovary(1) 1 GAACAACATGGGTGCTTGGAG 0.602 NaN 0 0 0 1 0 41 113 KIAA0146 23514 broad.mit.edu 37 8 48309060 48309060 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:48309060G>C uc003xqd.2 + 6 659 c.650G>C c.(649-651)AGA>ACA p.R217T KIAA0146_uc011lcz.1_Intron|KIAA0146_uc011lda.1_Intron|KIAA0146_uc011ldb.1_Missense_Mutation_p.R217T|KIAA0146_uc010lxs.2_5'UTR|KIAA0146_uc011ldc.1_Missense_Mutation_p.R147T|KIAA0146_uc011ldd.1_Missense_Mutation_p.R157T|KIAA0146_uc003xqe.2_Intron|KIAA0146_uc003xqf.2_RNA|KIAA0146_uc011lde.1_Intron NM_001080394 NP_001073863 Q14159 K0146_HUMAN hypothetical protein LOC23514 217 0 Lung NSC(58;0.175) TCGGATGCAAGACAGATTATG 0.408 NaN 0 0 0 1 0 33 87 KIAA0146 23514 broad.mit.edu 37 8 48641546 48641546 + Silent SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:48641546C>G uc003xqd.2 + 18 2496 c.2487C>G c.(2485-2487)CTC>CTG p.L829L KIAA0146_uc011ldc.1_Silent_p.L759L|KIAA0146_uc011ldd.1_Silent_p.L769L|KIAA0146_uc003xqe.2_Silent_p.L304L|KIAA0146_uc003xqf.2_RNA|KIAA0146_uc010lxt.2_Intron|KIAA0146_uc011ldf.1_Silent_p.L334L|KIAA0146_uc011ldg.1_Silent_p.L319L|KIAA0146_uc003xqg.1_Intron NM_001080394 NP_001073863 Q14159 K0146_HUMAN hypothetical protein LOC23514 829 0 Lung NSC(58;0.175) CTCCTGTTCTCAAGAGGCACC 0.592 NaN 0 0 0 1 0 15 78 PCMTD1 115294 broad.mit.edu 37 8 52733177 52733177 + Nonsense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:52733177G>A uc003xqx.3 - 6 1149 c.808C>T c.(808-810)CAA>TAA p.Q270* PCMTD1_uc011ldm.1_Nonsense_Mutation_p.Q140*|PCMTD1_uc003xqw.3_Nonsense_Mutation_p.Q270*|PCMTD1_uc011ldn.1_Nonsense_Mutation_p.Q82*|PCMTD1_uc010lya.2_Nonsense_Mutation_p.Q194* NM_052937 NP_443169 Q96MG8 PCMD1_HUMAN protein-L-isoaspartate (D-aspartate) 270 cytoplasm protein-L-isoaspartate (D-aspartate) O-methyltransferase activity 0 Lung NSC(129;0.0795)|all_lung(136;0.144) GGAGCCCTTTGAGGAATCCCC 0.423 NaN 0 0 0 1 0 9 143 RB1CC1 9821 broad.mit.edu 37 8 53558413 53558413 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:53558413G>A uc003xre.3 - 16 4394 c.3836C>T c.(3835-3837)TCT>TTT p.S1279F RB1CC1_uc003xrf.3_Missense_Mutation_p.S1279F NM_014781 NP_055596 Q8TDY2 RBCC1_HUMAN Rb1-inducible coiled coil protein 1 isoform 1 1279 Potential. autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex protein binding ovary(8)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1) 11 all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023) TCCTCTGGTAGAGTCAATGGC 0.308 NaN 0 0 0 1 0 16 39 RP1 6101 broad.mit.edu 37 8 55537354 55537354 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:55537354G>C uc003xsd.1 + 4 1060 c.912G>C c.(910-912)AAG>AAC p.K304N RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 304 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) CCTTAGAAAAGAATGATTCTC 0.318 NaN 0 0 0 1 0 4 35 RP1 6101 broad.mit.edu 37 8 55538471 55538471 + Nonsense_Mutation SNP C C T rs104894082 TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:55538471C>T uc003xsd.1 + 4 2177 c.2029C>T c.(2029-2031)CGA>TGA p.R677* RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 677 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) GAAAAAATCTCGACAGCAAGC 0.323 NaN 0 0 0 1 0 9 25 CHD7 55636 broad.mit.edu 37 8 61693580 61693580 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:61693580C>T uc003xue.2 + 3 2164 c.1687C>T c.(1687-1689)CTA>TTA p.L563L NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 563 Pro-rich. central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity p.556_871dup(1) ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1) 9 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) GGAGCCCTTTCTAGAGAAACC 0.433 NaN 0 0 0 1 0 5 16 CHD7 55636 broad.mit.edu 37 8 61773577 61773577 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 G C G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:61773577G>C uc003xue.2 + 35 8200 c.7723G>C c.(7723-7725)GAA>CAA p.E2575Q NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 2575 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1) 9 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) TATCAATCTTGAAGATGGGAC 0.458 NaN 0 0 0 1 0 16 47 VCPIP1 80124 broad.mit.edu 37 8 67576660 67576660 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:67576660C>T uc003xwn.2 - 1 2793 c.2534G>A c.(2533-2535)AGA>AAA p.R845K NM_025054 NP_079330 Q96JH7 VCIP1_HUMAN valosin containing protein (p97)/p47 complex 845 protein ubiquitination endoplasmic reticulum|Golgi stack ubiquitin-specific protease activity lung(2)|ovary(2)|central_nervous_system(1)|breast(1)|skin(1)|kidney(1) 8 Lung NSC(129;0.142)|all_lung(136;0.227) Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149) TATTGTAATTCTGTCGCCATG 0.428 NaN 0 0 0 1 0 20 61 PREX2 80243 broad.mit.edu 37 8 69039652 69039652 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:69039652C>T uc003xxv.1 + 31 3791 c.3764C>T c.(3763-3765)TCA>TTA p.S1255L NM_024870 NP_079146 Q70Z35 PREX2_HUMAN DEP domain containing 2 isoform a 1255 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1) 17 CTTGAATATTCAGGTAACATT 0.353 NaN 0 0 0 1 0 15 55 KCNB2 9312 broad.mit.edu 37 8 73848659 73848659 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:73848659G>A uc003xzb.2 + 3 1657 c.1069G>A c.(1069-1071)GAG>AAG p.E357K NM_004770 NP_004761 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related 357 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1) 7 Breast(64;0.137) Epithelial(68;0.105) ATTTTTTGCTGAGAAGGATGA 0.448 NaN 0 0 0 1 0 42 128 ZFHX4 79776 broad.mit.edu 37 8 77775830 77775830 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:77775830G>A uc003yav.2 + 11 10132 c.9745G>A c.(9745-9747)GAG>AAG p.E3249K NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 3245 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) CTGTGGCATGGAGAGCCTCTT 0.443 NaN HNSCC(33;0.089) 0 0 0 1 0 17 51 SNX16 64089 broad.mit.edu 37 8 82714735 82714735 + Splice_Site SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:82714735C>G uc011lft.1 - 8 1326 c.819_splice c.e8-1 p.R273_splice SNX16_uc003ycn.2_Splice_Site_p.R273_splice|SNX16_uc003yco.2_Splice_Site_p.R244_splice NM_022133 NP_071416 P57768 SNX16_HUMAN sorting nexin 16 isoform a cell communication|early endosome to late endosome transport|endosome to lysosome transport|protein targeting to lysosome early endosome membrane|extrinsic to endosome membrane|late endosome membrane|lysosome identical protein binding|phosphatidylinositol binding ovary(1)|pancreas(1) 2 AGACAATGTTCTAAAAGTATG 0.368 NaN 0 0 0 1 0 5 21 RUNX1T1 862 broad.mit.edu 37 8 92972658 92972658 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:92972658C>G uc003yfd.2 - 11 1711 c.1627G>C c.(1627-1629)GAC>CAC p.D543H RUNX1T1_uc003yfc.1_Missense_Mutation_p.D516H|RUNX1T1_uc003yfe.1_Missense_Mutation_p.D506H|RUNX1T1_uc010mao.2_Missense_Mutation_p.D516H|RUNX1T1_uc011lgi.1_Missense_Mutation_p.D554H|uc010mam.2_5'Flank|RUNX1T1_uc010man.1_Missense_Mutation_p.D168H|RUNX1T1_uc003yfb.1_Missense_Mutation_p.D506H NM_175634 NP_783552 Q06455 MTG8_HUMAN acute myelogenous leukemia 1 translocation 1 543 MYND-type. generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1) 16 BRCA - Breast invasive adenocarcinoma(11;0.0141) TTCTCCCAGTCTTTGTGCTGG 0.567 NaN 0 0 0 1 0 19 42 TMEM67 91147 broad.mit.edu 37 8 94808168 94808168 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:94808168C>G uc011lgk.1 + 18 1884 c.1813C>G c.(1813-1815)CAG>GAG p.Q605E TMEM67_uc010maw.2_Missense_Mutation_p.Q311E|TMEM67_uc003yga.3_Missense_Mutation_p.Q524E|TMEM67_uc011lgl.1_Missense_Mutation_p.Q4E NM_153704 NP_714915 Q5HYA8 MKS3_HUMAN meckelin isoform 1 605 cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body unfolded protein binding ovary(2) 2 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.00896) AATGCCAATTCAGGAAGAACG 0.323 NaN 0 0 0 1 0 30 71 KIAA1429 25962 broad.mit.edu 37 8 95527162 95527162 + Nonsense_Mutation SNP C C A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:95527162C>A uc003ygo.1 - 11 2699 c.2686G>T c.(2686-2688)GAA>TAA p.E896* KIAA1429_uc003ygp.2_Nonsense_Mutation_p.E896*|KIAA1429_uc010maz.1_RNA NM_015496 NP_056311 Q69YN4 VIR_HUMAN hypothetical protein LOC25962 isoform 1 896 mRNA processing|RNA splicing nucleus ovary(1)|skin(1) 2 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) TTCAGAGGTTCAAGCCACTTG 0.259 NaN 1 0 0.0581538 1 0.0583952 10 14 UBR5 51366 broad.mit.edu 37 8 103266703 103266703 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:103266703C>T uc003ykr.1 - 59 8260 c.8227G>A c.(8227-8229)GAA>AAA p.E2743K UBR5_uc003yks.1_Missense_Mutation_p.E2742K|UBR5_uc003ykq.2_Missense_Mutation_p.E254K NM_015902 NP_056986 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 2743 Pro-rich.|HECT. cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1) 28 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) AATCCTTCTTCACTGGCTGGC 0.418 NaN 0 0 0 1 0 15 46 EXT1 2131 broad.mit.edu 37 8 118847773 118847773 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:118847773C>T uc003yok.1 - 3 1847 c.1074G>A c.(1072-1074)GTG>GTA p.V358V NM_000127 NP_000118 Q16394 EXT1_HUMAN exostosin 1 358 Lumenal (Potential). glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development Golgi membrane|integral to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity ovary(2)|lung(2) 4 all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.012) TGCTGAGCATCACAGGGACGC 0.478 NaN Mis|N|F|S exostoses|osteosarcoma Hereditary_Multiple_Exostoses|Langer-Giedion_syndrome 0 0 0 1 0 15 41 COL14A1 7373 broad.mit.edu 37 8 121282363 121282363 + Missense_Mutation SNP C C A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:121282363C>A uc003yox.2 + 26 3428 c.3163C>A c.(3163-3165)CTA>ATA p.L1055I COL14A1_uc003yoz.2_Missense_Mutation_p.L20I NM_021110 NP_066933 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 precursor 1055 VWFA 2. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1) 12 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) CATCAGCTTTCTATACAGCAC 0.383 NaN 1 0 3.59834e-05 1 3.66325e-05 6 36 WDR67 93594 broad.mit.edu 37 8 124146406 124146406 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:124146406G>C uc003ypp.1 + 17 2549 c.2459G>C c.(2458-2460)AGA>ACA p.R820T WDR67_uc011lig.1_Intron|WDR67_uc011lih.1_Missense_Mutation_p.R710T|WDR67_uc003ypq.1_RNA|WDR67_uc003yps.1_Missense_Mutation_p.R454T|WDR67_uc003ypt.1_Missense_Mutation_p.R277T|WDR67_uc003ypu.1_Missense_Mutation_p.R277T NM_145647 NP_663622 Q96DN5 WDR67_HUMAN WD repeat domain 67 isoform 1 820 Potential. centrosome Rab GTPase activator activity skin(1) 1 Lung NSC(37;7e-10)|Ovarian(258;0.0205) STAD - Stomach adenocarcinoma(47;0.00527) CTAGAAATGAGACAGCTGGAA 0.313 NaN 0 0 0 1 0 27 69 FER1L6 654463 broad.mit.edu 37 8 124968267 124968267 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:124968267G>C uc003yqw.2 + 2 235 c.29G>C c.(28-30)AGA>ACA p.R10T NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 10 Cytoplasmic (Potential). integral to membrane ovary(5)|skin(5)|central_nervous_system(1) 11 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) AAGAAGAAGAGAAATAAGGCA 0.463 NaN 0 0 0 1 0 9 23 NDUFB9 4715 broad.mit.edu 37 8 125555327 125555327 + Splice_Site SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:125555327G>C uc003yrg.3 + 2 187 c.102_splice c.e2-1 p.R34_splice NDUFB9_uc011lim.1_Splice_Site_p.R34_splice NM_005005 NP_004996 Q9Y6M9 NDUB9_HUMAN NADH dehydrogenase (ubiquinone) 1 beta mitochondrial electron transport, NADH to ubiquinone|sensory perception of sound|transport mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity ovary(1)|skin(1) 2 Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) NADH(DB00157) TTTGGTTTAAGAGACAAATAC 0.453 NaN 0 0 0 1 0 14 63 NDUFB9 4715 broad.mit.edu 37 8 125555347 125555347 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:125555347G>C uc003yrg.3 + 2 206 c.121G>C c.(121-123)GCT>CCT p.A41P NDUFB9_uc011lim.1_Missense_Mutation_p.A41P NM_005005 NP_004996 Q9Y6M9 NDUB9_HUMAN NADH dehydrogenase (ubiquinone) 1 beta 41 mitochondrial electron transport, NADH to ubiquinone|sensory perception of sound|transport mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity ovary(1)|skin(1) 2 Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) NADH(DB00157) CCGATACTTTGCTTGTTTGAT 0.448 NaN 0 0 0 1 0 15 67 KIAA0196 9897 broad.mit.edu 37 8 126036882 126036882 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:126036882C>T uc003yrt.2 - 29 3786 c.3457G>A c.(3457-3459)GAT>AAT p.D1153N KIAA0196_uc011lir.1_Missense_Mutation_p.D1005N NM_014846 NP_055661 Q12768 STRUM_HUMAN strumpellin 1153 cell death WASH complex ovary(2) 2 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) CTGAACTCATCAAAAATGAAA 0.318 NaN 0 0 0 1 0 10 39 ASAP1 50807 broad.mit.edu 37 8 131073251 131073251 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:131073251C>T uc003yta.1 - 27 2794 c.2766G>A c.(2764-2766)CAG>CAA p.Q922Q ASAP1_uc003ysz.1_Silent_p.Q733Q|ASAP1_uc011liw.1_Silent_p.Q915Q NM_018482 NP_060952 Q9ULH1 ASAP1_HUMAN development and differentiation enhancing factor 922 Pro-rich. cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction cytoplasm|membrane ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding ovary(4) 4 GTGATGATTTCTGAAAGATTT 0.512 NaN 0 0 0 1 0 42 145 ADCY8 114 broad.mit.edu 37 8 132052131 132052131 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:132052131C>T uc003ytd.3 - 1 705 c.449G>A c.(448-450)CGA>CAA p.R150Q ADCY8_uc010mds.2_Missense_Mutation_p.R150Q NM_001115 NP_001106 P40145 ADCY8_HUMAN adenylate cyclase 8 150 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding skin(4)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) AATGACCCCTCGGTAGCTATA 0.577 NaN HNSCC(32;0.087) 0 0 0 1 0 17 29 TMEM71 137835 broad.mit.edu 37 8 133740098 133740098 + Nonsense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:133740098G>A uc003ytp.2 - 6 848 c.619C>T c.(619-621)CAG>TAG p.Q207* TMEM71_uc003ytm.1_Nonsense_Mutation_p.Q29*|TMEM71_uc003ytn.2_Nonsense_Mutation_p.Q189*|TMEM71_uc003yto.2_Intron NM_144649 NP_653250 Q6P5X7 TMM71_HUMAN transmembrane protein 71 isoform 1 208 integral to membrane ovary(2) 2 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) AACTGGGACTGAAGAGACAAG 0.463 NaN 0 0 0 1 0 38 112 EIF2C2 27161 broad.mit.edu 37 8 141568637 141568637 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:141568637C>T uc003yvn.2 - 7 865 c.825G>A c.(823-825)ATG>ATA p.M275I EIF2C2_uc010men.2_Missense_Mutation_p.M198I|EIF2C2_uc010meo.2_Missense_Mutation_p.M275I NM_012154 NP_036286 Q9UKV8 AGO2_HUMAN argonaute 2 isoform 1 275 PAZ. mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|polysome|RNA-induced silencing complex endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity 0 all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155) Breast(495;0.159) BRCA - Breast invasive adenocarcinoma(115;0.158) ACTTCCTCTTCATCTGCCCAC 0.612 NaN 0 0 0 1 0 30 108 TSNARE1 203062 broad.mit.edu 37 8 143396400 143396400 + Silent SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:143396400G>C uc003ywk.2 - 8 1156 c.1038C>G c.(1036-1038)CTC>CTG p.L346L TSNARE1_uc011lju.1_Silent_p.L345L|TSNARE1_uc003ywj.2_Silent_p.L346L|TSNARE1_uc003ywl.3_Silent_p.L126L NM_145003 NP_659440 Q96NA8 TSNA1_HUMAN t-SNARE domain containing 1 346 vesicle-mediated transport integral to membrane 0 all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) TGGCATCTGAGAGCTGGGTTT 0.652 NaN 0 0 0 1 0 21 103 TIGD5 84948 broad.mit.edu 37 8 144681737 144681737 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:144681737C>T uc003yyx.1 + 1 1517 c.1517C>T c.(1516-1518)CCT>CTT p.P506L EEF1D_uc011lki.1_5'Flank|EEF1D_uc011lkj.1_5'Flank|EEF1D_uc003yyr.2_5'Flank|EEF1D_uc003yyt.2_5'Flank|EEF1D_uc011lkk.1_5'Flank|EEF1D_uc003yys.2_5'Flank|EEF1D_uc003yyv.2_5'Flank|EEF1D_uc003yyu.2_5'Flank|EEF1D_uc011lkl.1_5'Flank NM_032862 NP_116251 Q53EQ6 TIGD5_HUMAN tigger transposable element derived 5 555 regulation of transcription, DNA-dependent chromosome, centromeric region DNA binding 0 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239) GCCCTGCCCCCTGCAGCGCCT 0.716 NaN 0 0 0 1 0 3 11 PLEC 5339 broad.mit.edu 37 8 145003979 145003979 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:145003979C>G uc003zaf.1 - 23 3339 c.3169G>C c.(3169-3171)GAG>CAG p.E1057Q PLEC_uc003zab.1_Missense_Mutation_p.E920Q|PLEC_uc003zac.1_Missense_Mutation_p.E924Q|PLEC_uc003zad.2_Missense_Mutation_p.E920Q|PLEC_uc003zae.1_Missense_Mutation_p.E888Q|PLEC_uc003zag.1_Missense_Mutation_p.E898Q|PLEC_uc003zah.2_Missense_Mutation_p.E906Q|PLEC_uc003zaj.2_Missense_Mutation_p.E947Q NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 1057 Globular 1. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 CGCTGCTCCTCTGGCTTCAGG 0.706 NaN 0 0 0 1 0 9 23 PLEC 5339 broad.mit.edu 37 8 145004382 145004382 + Nonsense_Mutation SNP C C A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:145004382C>A uc003zaf.1 - 21 3123 c.2953G>T c.(2953-2955)GAG>TAG p.E985* PLEC_uc003zab.1_Nonsense_Mutation_p.E848*|PLEC_uc003zac.1_Nonsense_Mutation_p.E852*|PLEC_uc003zad.2_Nonsense_Mutation_p.E848*|PLEC_uc003zae.1_Nonsense_Mutation_p.E816*|PLEC_uc003zag.1_Nonsense_Mutation_p.E826*|PLEC_uc003zah.2_Nonsense_Mutation_p.E834*|PLEC_uc003zaj.2_Nonsense_Mutation_p.E875* NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 985 Globular 1. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 ACGGCGGCCTCGCTGCCGGAG 0.716 NaN 1 0 0.184627 1 0.184846 5 13 GRINA 2907 broad.mit.edu 37 8 145066917 145066917 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:145066917G>A uc003zan.1 + 7 1190 c.1024G>A c.(1024-1026)GAA>AAA p.E342K GRINA_uc003zao.1_Missense_Mutation_p.E342K|GRINA_uc003zap.1_Missense_Mutation_p.E342K NM_001009184 NP_001009184 Q7Z429 GRINA_HUMAN glutamate receptor, ionotropic, N-methyl 342 integral to membrane central_nervous_system(1) 1 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CCTGAGCCCAGAAGAGTATGT 0.562 NaN 0 0 0 1 0 11 45 MFSD3 113655 broad.mit.edu 37 8 145736434 145736434 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:145736434C>T uc003zdi.1 + 5 1291 c.1126C>T c.(1126-1128)CTG>TTG p.L376L NM_138431 NP_612440 Q96ES6 MFSD3_HUMAN major facilitator superfamily domain containing 376 Leu-rich.|Helical; (Potential). transmembrane transport integral to membrane central_nervous_system(2) 2 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) GCTGGGCACTCTGGCCGGAGG 0.647 NaN 0 0 0 1 0 47 151 DMRT3 58524 broad.mit.edu 37 9 990886 990886 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:990886C>T uc003zgw.1 + 2 1338 c.1300C>T c.(1300-1302)CGG>TGG p.R434W NM_021240 NP_067063 Q9NQL9 DMRT3_HUMAN doublesex and mab-3 related transcription factor 434 cell differentiation|multicellular organismal development|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity ovary(2)|central_nervous_system(1) 3 all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08) Lung(218;0.0196) GGAAGACCCTCGGATTTCCAT 0.542 NaN 0 0 0 1 0 27 100 SMARCA2 6595 broad.mit.edu 37 9 2056767 2056767 + Silent SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:2056767G>C uc003zhc.2 + 7 1368 c.1269G>C c.(1267-1269)CTG>CTC p.L423L SMARCA2_uc003zhd.2_Silent_p.L423L|SMARCA2_uc010mha.2_Silent_p.L414L NM_003070 NP_003061 P51531 SMCA2_HUMAN SWI/SNF-related matrix-associated 423 chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding ovary(2)|central_nervous_system(1) 3 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) GCCAGACTCTGAGAGAAGCTC 0.572 NaN 0 0 0 1 0 15 29 KIAA0020 9933 broad.mit.edu 37 9 2837350 2837350 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:2837350C>T uc003zhp.1 - 3 230 c.134G>A c.(133-135)GGA>GAA p.G45E KIAA0020_uc010mhc.1_Missense_Mutation_p.G44E|KIAA0020_uc003zhq.1_Missense_Mutation_p.G45E NM_014878 NP_055693 Q15397 K0020_HUMAN KIAA0020 protein 45 endoplasmic reticulum|nucleolus RNA binding ovary(1) 1 GBM - Glioblastoma multiforme(50;0.0319) GACTTTAGGTCCACCTTCTTT 0.373 NaN 0 0 0 1 0 17 79 JAK2 3717 broad.mit.edu 37 9 5022040 5022040 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:5022040C>G uc010mhm.2 + 2 166 c.53C>G c.(52-54)TCT>TGT p.S18C JAK2_uc003ziw.2_Missense_Mutation_p.S18C NM_004972 NP_004963 O60674 JAK2_HUMAN Janus kinase 2 18 Interaction with cytokine/interferon/growth hormone receptors (By similarity). actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein caveola|cytoskeleton|cytosol|endomembrane system|nucleus ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4) haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1) 28641 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147) GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133) TCCACCTCTTCTATATATCAG 0.393 1 T|Mis|O ETV6|PCM1|BCR ALL|AML|MPD| CML Polycythemia_Vera_Familial 0 0 0 1 0 24 77 KIAA1432 57589 broad.mit.edu 37 9 5765728 5765728 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:5765728G>A uc003zji.2 + 20 2923 c.2830G>A c.(2830-2832)GAA>AAA p.E944K KIAA1432_uc003zjh.2_Missense_Mutation_p.E944K|KIAA1432_uc003zjl.3_Missense_Mutation_p.E907K|KIAA1432_uc003zjj.1_Missense_Mutation_p.E486K|ERMP1_uc011lme.1_RNA NM_020829 NP_065880 Q4ADV7 RIC1_HUMAN connexin 43-interacting protein 150 isoform a 1023 integral to membrane 0 Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122) CCAGTCAGCTGAAAATGTTCC 0.398 NaN 0 0 0 1 0 10 126 PTPRD 5789 broad.mit.edu 37 9 8484270 8484270 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:8484270G>A uc003zkk.2 - 29 3973 c.3262C>T c.(3262-3264)CGT>TGT p.R1088C PTPRD_uc003zkp.2_Missense_Mutation_p.R677C|PTPRD_uc003zkq.2_Missense_Mutation_p.R677C|PTPRD_uc003zkr.2_Missense_Mutation_p.R672C|PTPRD_uc003zks.2_Missense_Mutation_p.R667C|PTPRD_uc003zkl.2_Missense_Mutation_p.R1079C|PTPRD_uc003zkm.2_Missense_Mutation_p.R1075C|PTPRD_uc003zkn.2_Missense_Mutation_p.R677C|PTPRD_uc003zko.2_Missense_Mutation_p.R674C NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1088 Fibronectin type-III 8.|Extracellular (Potential). transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1) 22 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) CTGTTTCCACGATTTGTCAGC 0.478 NaN TSP Lung(15;0.13) 0 0 0 1 0 20 65 BNC2 54796 broad.mit.edu 37 9 16436824 16436824 + Silent SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:16436824G>C uc003zml.2 - 6 1508 c.1368C>G c.(1366-1368)CTC>CTG p.L456L BNC2_uc011lmw.1_Silent_p.L361L|BNC2_uc003zmm.2_Silent_p.L414L|BNC2_uc003zmq.1_Silent_p.L470L|BNC2_uc003zmr.1_Silent_p.L493L|BNC2_uc003zmp.1_Silent_p.L484L|BNC2_uc010mij.1_Silent_p.L378L|BNC2_uc011lmv.1_Silent_p.L282L|BNC2_uc003zmo.1_Silent_p.L378L|BNC2_uc003zmj.2_Silent_p.L221L|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Silent_p.L221L|BNC2_uc003zmn.1_Silent_p.L221L NM_017637 NP_060107 Q6ZN30 BNC2_HUMAN basonuclin 2 456 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding ovary(2)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(50;9.01e-08) AATGAATTTTGAGAGTACCTT 0.448 NaN 0 0 0 1 0 26 68 CNTLN 54875 broad.mit.edu 37 9 17464510 17464510 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:17464510G>A uc003zmz.2 + 21 3443 c.3417G>A c.(3415-3417)GAG>GAA p.E1139E CNTLN_uc003zmy.2_Silent_p.E1140E|CNTLN_uc010mio.2_Silent_p.E819E NM_017738 NP_060208 Q9NXG0 CNTLN_HUMAN centlein isoform 1 1140 Potential. centriole|membrane two-component sensor activity pancreas(1) 1 GBM - Glioblastoma multiforme(50;6.14e-10) CTCGAATGGAGAGGGATATAA 0.303 NaN 0 0 0 1 0 16 34 DENND4C 55667 broad.mit.edu 37 9 19345995 19345995 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:19345995G>C uc003znq.2 + 18 2406 c.2373G>C c.(2371-2373)AAG>AAC p.K791N DENND4C_uc011lnc.1_Missense_Mutation_p.K121N|DENND4C_uc011lnd.1_Missense_Mutation_p.K79N|DENND4C_uc003znr.2_Missense_Mutation_p.K79N|DENND4C_uc003zns.2_5'UTR|DENND4C_uc003znt.2_5'UTR NM_017925 NP_060395 Q5VZ89 DEN4C_HUMAN DENN/MADD domain containing 4C 791 integral to membrane ovary(1)|skin(1) 2 CTAATCTCAAGAAGAATGGTG 0.358 NaN 0 0 0 1 0 19 65 DENND4C 55667 broad.mit.edu 37 9 19346457 19346457 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:19346457G>C uc003znq.2 + 18 2868 c.2835G>C c.(2833-2835)AAG>AAC p.K945N DENND4C_uc011lnc.1_Missense_Mutation_p.K275N|DENND4C_uc011lnd.1_Missense_Mutation_p.K233N|DENND4C_uc003znr.2_Missense_Mutation_p.K233N|DENND4C_uc003zns.2_Missense_Mutation_p.K127N|DENND4C_uc003znt.2_Missense_Mutation_p.K127N NM_017925 NP_060395 Q5VZ89 DEN4C_HUMAN DENN/MADD domain containing 4C 945 integral to membrane ovary(1)|skin(1) 2 TGAGGAATAAGAGAAGTAGTT 0.378 NaN 0 0 0 1 0 12 70 RPS6 6194 broad.mit.edu 37 9 19376564 19376564 + Silent SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:19376564C>G uc003znv.1 - 5 624 c.582G>C c.(580-582)CTG>CTC p.L194L RPS6_uc003znu.1_Silent_p.L163L NM_001010 NP_001001 P62753 RS6_HUMAN ribosomal protein S6 194 endocrine pancreas development|glucose homeostasis|insulin receptor signaling pathway|positive regulation of apoptosis|rRNA processing|TOR signaling cascade|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleolus protein binding ovary(1) 1 Colorectal(97;3.46e-05)|Myeloproliferative disorder(762;0.0255) Lung(42;0.161)|LUSC - Lung squamous cell carcinoma(42;0.234) GCTGCTTCTTCAGAGCAATAC 0.448 NaN 0 0 0 1 0 26 105 SLC24A2 25769 broad.mit.edu 37 9 19786586 19786586 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:19786586C>G uc003zoa.1 - 1 341 c.279G>C c.(277-279)AAG>AAC p.K93N SLC24A2_uc003zob.1_Missense_Mutation_p.K93N NM_020344 NP_065077 Q9UI40 NCKX2_HUMAN solute carrier family 24 93 Extracellular (Potential). visual perception integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity ovary(3) 3 GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443) AATCCAGAATCTTGTCATTTA 0.473 NaN 0 0 0 1 0 18 86 TMEM215 401498 broad.mit.edu 37 9 32784684 32784684 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:32784684C>T uc003zri.3 + 2 868 c.503C>T c.(502-504)TCG>TTG p.S168L NM_212558 NP_997723 Q68D42 TM215_HUMAN transmembrane protein 215 168 integral to membrane 0 TACTGCCCCTCGGGCAGTTCC 0.587 NaN 0 0 0 1 0 22 44 DNAI1 27019 broad.mit.edu 37 9 34489432 34489432 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:34489432G>C uc003zum.2 + 5 566 c.373G>C c.(373-375)GAT>CAT p.D125H NM_012144 NP_036276 Q9UI46 DNAI1_HUMAN dynein, axonemal, intermediate chain 1 125 cell projection organization cilium axoneme|cytoplasm|dynein complex|microtubule motor activity 0 all_epithelial(49;0.244) LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212) GBM - Glioblastoma multiforme(74;0.0222) GCATTACCGCGATGAATTAGT 0.527 NaN Kartagener_syndrome 0 0 0 1 0 19 83 POLR1E 64425 broad.mit.edu 37 9 37498107 37498107 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:37498107G>A uc003zzz.1 + 8 1246 c.958G>A c.(958-960)GAA>AAA p.E320K POLR1E_uc003zzy.1_Missense_Mutation_p.E258K|POLR1E_uc011lqk.1_Missense_Mutation_p.E187K NM_022490 NP_071935 Q9GZS1 RPA49_HUMAN RNA polymerase I associated factor 53 320 rRNA transcription cell junction|cytoplasm|nucleolus DNA binding|DNA-directed RNA polymerase activity|protein binding 0 GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229) CTTTGTCATAGAAGCGTTGAA 0.483 NaN 0 0 0 1 0 27 54 C9orf71 169693 broad.mit.edu 37 9 71155605 71155605 + Silent SNP C C T rs147451213 TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:71155605C>T uc004agt.2 - 1 179 c.126G>A c.(124-126)GCG>GCA p.A42A NM_153237 NP_694969 Q8N6L7 CI071_HUMAN hypothetical protein LOC169693 42 Helical; (Potential). integral to membrane 0 GCAAATAGGCCGCAATCAGGC 0.532 NaN 0 0 0 1 0 4 46 TJP2 9414 broad.mit.edu 37 9 71851902 71851902 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:71851902G>C uc004ahe.2 + 14 2229 c.2029G>C c.(2029-2031)GAC>CAC p.D677H TJP2_uc011lrs.1_Missense_Mutation_p.D654H|TJP2_uc011lrt.1_Missense_Mutation_p.D654H|TJP2_uc004ahd.2_Missense_Mutation_p.D677H|TJP2_uc004ahf.2_Missense_Mutation_p.D677H|TJP2_uc011lru.1_Missense_Mutation_p.D681H|TJP2_uc011lrv.1_Missense_Mutation_p.D699H NM_004817 NP_004808 Q9UDY2 ZO2_HUMAN tight junction protein 2 (zona occludens 2) 677 cellular component disassembly involved in apoptosis adherens junction|cytoplasm|nucleus|tight junction guanylate kinase activity|protein binding 0 TGCCCAGAGAGACAACGCTGG 0.498 NaN 0 0 0 1 0 44 175 TJP2 9414 broad.mit.edu 37 9 71851923 71851923 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:71851923G>A uc004ahe.2 + 14 2250 c.2050G>A c.(2050-2052)GAT>AAT p.D684N TJP2_uc011lrs.1_Missense_Mutation_p.D661N|TJP2_uc011lrt.1_Missense_Mutation_p.D661N|TJP2_uc004ahd.2_Missense_Mutation_p.D684N|TJP2_uc004ahf.2_Missense_Mutation_p.D684N|TJP2_uc011lru.1_Missense_Mutation_p.D688N|TJP2_uc011lrv.1_Missense_Mutation_p.D706N NM_004817 NP_004808 Q9UDY2 ZO2_HUMAN tight junction protein 2 (zona occludens 2) 684 Guanylate kinase-like. cellular component disassembly involved in apoptosis adherens junction|cytoplasm|nucleus|tight junction guanylate kinase activity|protein binding 0 GGACCGGGCAGATTTCTGGAG 0.512 NaN 0 0 0 1 0 41 173 TJP2 9414 broad.mit.edu 37 9 71852031 71852031 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:71852031G>C uc004ahe.2 + 14 2358 c.2158G>C c.(2158-2160)GAG>CAG p.E720Q TJP2_uc011lrs.1_Missense_Mutation_p.E697Q|TJP2_uc011lrt.1_Missense_Mutation_p.E697Q|TJP2_uc004ahd.2_Missense_Mutation_p.E720Q|TJP2_uc004ahf.2_Missense_Mutation_p.E720Q|TJP2_uc011lru.1_Missense_Mutation_p.E724Q|TJP2_uc011lrv.1_Missense_Mutation_p.E742Q NM_004817 NP_004808 Q9UDY2 ZO2_HUMAN tight junction protein 2 (zona occludens 2) 720 Guanylate kinase-like. cellular component disassembly involved in apoptosis adherens junction|cytoplasm|nucleus|tight junction guanylate kinase activity|protein binding 0 CCCAGCTTATGAGAGGGTTTT 0.517 NaN 0 0 0 1 0 24 112 GDA 9615 broad.mit.edu 37 9 74764516 74764516 + Missense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:74764516G>T uc004aiq.2 + 1 224 c.41G>T c.(40-42)CGA>CTA p.R14L GDA_uc011lse.1_Intron|GDA_uc011lsf.1_5'UTR|GDA_uc004air.2_Missense_Mutation_p.R14L|GDA_uc010mow.1_RNA|GDA_uc004ais.2_5'UTR NM_004293 NP_004284 Q9Y2T3 GUAD_HUMAN guanine deaminase 14 nervous system development|purine base metabolic process|purine nucleotide catabolic process cytosol guanine deaminase activity|zinc ion binding ovary(2)|central_nervous_system(2)|skin(1) 5 Myeloproliferative disorder(762;0.0122) Lung(182;0.0583) CACATCTTCCGAGGGACGTTC 0.701 NaN 1 0 1.33834e-09 1 1.3952e-09 18 29 TRPM6 140803 broad.mit.edu 37 9 77416817 77416817 + Nonsense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:77416817G>C uc004ajl.1 - 16 2244 c.2006C>G c.(2005-2007)TCA>TGA p.S669* TRPM6_uc004ajk.1_Nonsense_Mutation_p.S664*|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajm.1_Nonsense_Mutation_p.S47* NM_017662 NP_060132 Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, 669 Cytoplasmic (Potential). response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 8 CACTTACTTTGAGTAATTCTT 0.408 NaN 0 0 0 1 0 18 66 KIF27 55582 broad.mit.edu 37 9 86474218 86474218 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:86474218C>G uc004ana.2 - 14 3147 c.3003G>C c.(3001-3003)AAG>AAC p.K1001N KIF27_uc010mpw.2_Missense_Mutation_p.K935N|KIF27_uc010mpx.2_Missense_Mutation_p.K904N NM_017576 NP_060046 Q86VH2 KIF27_HUMAN kinesin family member 27 1001 Potential. cilium assembly|microtubule-based movement cilium|cytoplasm|microtubule ATP binding|microtubule motor activity lung(4)|skin(1) 5 GCTGCACATTCTTTTCAGACA 0.423 NaN 0 0 0 1 0 19 79 AGTPBP1 23287 broad.mit.edu 37 9 88247959 88247959 + Nonsense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:88247959G>A uc011ltd.1 - 13 1666 c.1633C>T c.(1633-1635)CAA>TAA p.Q545* AGTPBP1_uc004aod.3_Nonsense_Mutation_p.Q171*|AGTPBP1_uc011ltc.1_Nonsense_Mutation_p.Q443*|AGTPBP1_uc010mqc.2_Nonsense_Mutation_p.Q505*|AGTPBP1_uc011lte.1_Nonsense_Mutation_p.Q557* NM_015239 NP_056054 Q9UPW5 CBPC1_HUMAN ATP/GTP binding protein 1 545 C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis cytosol|mitochondrion|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding ovary(4)|large_intestine(2)|skin(1) 7 GGGGCTGTTTGAGAAGGAATA 0.423 NaN 0 0 0 1 0 15 56 C9orf79 286234 broad.mit.edu 37 9 90497818 90497818 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:90497818C>T uc004app.3 + 1 47 c.12C>T c.(10-12)CTC>CTT p.L4L C9orf79_uc004apo.1_Silent_p.L4L NM_178828 NP_849150 Q6ZUB1 CI079_HUMAN chromosome 9 open reading frame 79 4 integral to membrane ovary(3) 3 TGGGAAATCTCGTCATCCCTC 0.607 NaN 0 0 0 1 0 17 39 SPTLC1 10558 broad.mit.edu 37 9 94809914 94809914 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:94809914G>C uc004arl.1 - 10 1003 c.965C>G c.(964-966)TCT>TGT p.S322C SPTLC1_uc011ltv.1_Missense_Mutation_p.S322C NM_006415 NP_006406 O15269 SPTC1_HUMAN serine palmitoyltransferase subunit 1 isoform a 322 Cytoplasmic (Potential). integral to membrane|SPOTS complex protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups ovary(1)|breast(1) 2 L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) AATTACAAAAGACCTGCCACA 0.388 NaN 0 0 0 1 0 5 19 ZNF484 83744 broad.mit.edu 37 9 95610035 95610035 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:95610035C>T uc004asu.1 - 5 1183 c.1034G>A c.(1033-1035)AGA>AAA p.R345K ANKRD19_uc004asr.3_Intron|ZNF484_uc011lub.1_Missense_Mutation_p.R347K|ZNF484_uc010mrb.1_Missense_Mutation_p.R309K|ZNF484_uc004asv.1_Missense_Mutation_p.R309K NM_031486 NP_113674 Q5JVG2 ZN484_HUMAN zinc finger protein 484 isoform a 345 C2H2-type 3; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TCTCTGGCATCTGAACAGATC 0.363 NaN 0 0 0 1 0 15 47 CTSL2 1515 broad.mit.edu 37 9 99795232 99795232 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:99795232C>T uc004awt.2 - 8 1201 c.1004G>A c.(1003-1005)TGA>TAA p.*335* CTSL2_uc010msi.2_Silent_p.*335*|CTSL2_uc004awu.2_Silent_p.*280* NM_001333 NP_001324 O60911 CATL2_HUMAN cathepsin L2 preproprotein 335 lysosome cysteine-type endopeptidase activity 0 Acute lymphoblastic leukemia(62;0.0559) TCCATCAGCTCACACATTGGG 0.468 NaN 0 0 0 1 0 11 51 NCBP1 4686 broad.mit.edu 37 9 100417166 100417166 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:100417166C>T uc004axq.2 + 12 1634 c.1175C>T c.(1174-1176)GCA>GTA p.A392V NM_002486 NP_002477 Q09161 NCBP1_HUMAN nuclear cap binding protein subunit 1, 80kDa 392 gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex protein binding|RNA cap binding central_nervous_system(1) 1 Acute lymphoblastic leukemia(62;0.158) TCACAGCTTGCACAGGCAACT 0.358 NaN 0 0 0 1 0 11 38 ABCA1 19 broad.mit.edu 37 9 107571819 107571819 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:107571819G>A uc004bcl.2 - 30 4515 c.4202C>T c.(4201-4203)ACC>ATC p.T1401I NM_005502 NP_005493 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A member 1 1401 Extracellular. Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) GAGTTCCAGGGTTCCCGTGTC 0.483 NaN 0 0 0 1 0 10 35 RAD23B 5887 broad.mit.edu 37 9 110086268 110086268 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:110086268G>C uc004bde.2 + 8 1282 c.915G>C c.(913-915)CAG>CAC p.Q305H RAD23B_uc011lwa.1_Missense_Mutation_p.Q305H|RAD23B_uc011lwb.1_Missense_Mutation_p.Q284H NM_002874 NP_002865 P54727 RD23B_HUMAN UV excision repair protein RAD23 homolog B 305 STI1. nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process cytoplasm|nucleoplasm|proteasome complex|XPC complex damaged DNA binding|polyubiquitin binding|single-stranded DNA binding ovary(1) 1 TACTACAGCAGATAGGTCGAG 0.408 NaN Direct_reversal_of_damage|NER 0 0 0 1 0 15 46 PTPN3 5774 broad.mit.edu 37 9 112153421 112153421 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:112153421C>T uc004bed.2 - 21 2215 c.2103G>A c.(2101-2103)GTG>GTA p.V701V PTPN3_uc004beb.2_Silent_p.V570V|PTPN3_uc004bec.2_Silent_p.V525V|PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Silent_p.V656V|PTPN3_uc011lwh.1_Silent_p.V547V|PTPN3_uc011lwd.1_Silent_p.V169V|PTPN3_uc011lwe.1_Silent_p.V414V|PTPN3_uc011lwf.1_Silent_p.V369V NM_002829 NP_002820 P26045 PTN3_HUMAN protein tyrosine phosphatase, non-receptor type 701 Tyrosine-protein phosphatase. negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle cytoplasm|cytoskeleton|internal side of plasma membrane ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity ovary(3) 3 AACTTACGTTCACGTAACTTG 0.358 NaN 0 0 0 1 0 7 19 FKBP15 23307 broad.mit.edu 37 9 115969571 115969571 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:115969571G>C uc004bgs.2 - 3 293 c.175C>G c.(175-177)CAG>GAG p.Q59E FKBP15_uc010muu.1_Missense_Mutation_p.Q123E|FKBP15_uc011lxd.1_Translation_Start_Site|FKBP15_uc010mut.1_Intron|FKBP15_uc004bgt.2_Missense_Mutation_p.Q59E NM_015258 NP_056073 Q5T1M5 FKB15_HUMAN FK506 binding protein 15, 133kDa 59 endocytosis|protein folding axon|early endosome actin binding ovary(3) 3 GGTGTTGCCTGATTTCCTGAA 0.338 NaN 0 0 0 1 0 48 207 ORM1 5004 broad.mit.edu 37 9 117087340 117087340 + Missense_Mutation SNP G G C rs143596557 TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:117087340G>C uc004bik.3 + 5 559 c.448G>C c.(448-450)GAG>CAG p.E150Q ORM1_uc011lxo.1_Intron NM_000607 NP_000598 P02763 A1AG1_HUMAN orosomucoid 1 precursor 150 acute-phase response|regulation of immune system process|transport extracellular space protein binding 0 Myeloproliferative disorder(63;0.163) Acenocoumarol(DB01418)|Alfentanil(DB00802)|Aprindine(DB01429)|Disopyramide(DB00280)|Penbutolol(DB01359)|Phenprocoumon(DB00946)|Quinidine(DB00908)|Tamsulosin(DB00706) TGACAAGCCAGAGACGACCAA 0.612 NaN 0 0 0 1 0 18 61 TNC 3371 broad.mit.edu 37 9 117838737 117838737 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:117838737G>A uc004bjj.3 - 8 3154 c.2792C>T c.(2791-2793)TCT>TTT p.S931F TNC_uc010mvf.2_Missense_Mutation_p.S931F NM_002160 NP_002151 P24821 TENA_HUMAN tenascin C precursor 931 Fibronectin type-III 4. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1) 7 GTCCCCTCCAGAGATGGGGGC 0.507 NaN 0 0 0 1 0 64 168 MEGF9 1955 broad.mit.edu 37 9 123476050 123476050 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:123476050G>C uc004bkj.1 - 1 563 c.563C>G c.(562-564)TCT>TGT p.S188C MEGF9_uc011lyb.1_Missense_Mutation_p.S188C|MEGF9_uc004bkk.3_Missense_Mutation_p.S188C NM_001080497 NP_001073966 Q9H1U4 MEGF9_HUMAN multiple EGF-like-domains 9 196 Extracellular (Potential).|Pro-rich. integral to membrane calcium ion binding 0 AGGAGGCGAAGAGGGGGCCTC 0.682 NaN 0 0 0 1 0 6 23 GSN 2934 broad.mit.edu 37 9 124065295 124065295 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:124065295C>T uc004blf.1 + 3 517 c.456C>T c.(454-456)TTC>TTT p.F152F GSN_uc004bld.1_Silent_p.F101F|GSN_uc010mvq.1_Silent_p.F112F|GSN_uc010mvr.1_Silent_p.F112F|GSN_uc010mvu.1_Silent_p.F101F|GSN_uc010mvt.1_Silent_p.F101F|GSN_uc010mvs.1_Silent_p.F101F|GSN_uc004ble.1_Silent_p.F101F|GSN_uc010mvv.1_Silent_p.F101F|GSN_uc011lyh.1_Silent_p.F118F|GSN_uc011lyi.1_Silent_p.F101F|GSN_uc011lyj.1_Silent_p.F125F NM_000177 NP_000168 P06396 GELS_HUMAN gelsolin isoform a precursor 152 Actin-severing (Potential). actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis actin cytoskeleton|cytosol actin binding|calcium ion binding|protein binding breast(2)|ovary(1) 3 TCCAGGGCTTCGAGTCGGCCA 0.617 NaN 0 0 0 1 0 28 112 DAB2IP 153090 broad.mit.edu 37 9 124522678 124522678 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:124522678C>G uc004bln.2 + 6 1115 c.1046C>G c.(1045-1047)TCT>TGT p.S349C DAB2IP_uc004blo.2_Missense_Mutation_p.S253C NM_032552 NP_115941 Q5VWQ8 DAB2P_HUMAN disabled homolog 2 interacting protein isoform 377 Ras-GAP. activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter cytoplasm|intrinsic to internal side of plasma membrane 14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity ovary(1)|central_nervous_system(1) 2 GAGATGGCATCTGCCCTGGTG 0.622 NaN 0 0 0 1 0 12 38 GOLGA2 2801 broad.mit.edu 37 9 131030767 131030767 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:131030767C>T uc011maw.1 - 3 257 c.244G>A c.(244-246)GAT>AAT p.D82N GOLGA2_uc010mxw.2_Intron|GOLGA2_uc004bul.1_5'UTR|GOLGA2_uc004bum.1_5'UTR NM_004486 NP_004477 Q08379 GOGA2_HUMAN Golgi autoantigen, golgin subfamily a, 2 82 Potential. Golgi cisterna membrane protein binding ovary(1) 1 ACGGTGTCATCAGATGGTTGT 0.592 NaN 0 0 0 1 0 11 35 ODF2 4957 broad.mit.edu 37 9 131258398 131258398 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:131258398C>G uc011mbd.1 + 18 2301 c.1990C>G c.(1990-1992)CTG>GTG p.L664V ODF2_uc004bvb.2_Missense_Mutation_p.L640V|ODF2_uc011mbe.1_Missense_Mutation_p.L659V|ODF2_uc004bvc.2_Missense_Mutation_p.L640V|ODF2_uc004bvd.3_Missense_Mutation_p.L664V|ODF2_uc004bvh.2_Missense_Mutation_p.L18V NM_002540 NP_002531 Q5BJF6 ODFP2_HUMAN outer dense fiber of sperm tails 2 isoform 1 664 Potential. cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centriole|cilium|cytosol|microtubule|spindle pole protein binding|structural molecule activity ovary(1) 1 ACAGCTGAGTCTGAAGGTGGA 0.483 NaN 0 0 0 1 0 23 82 ZER1 10444 broad.mit.edu 37 9 131515056 131515056 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:131515056G>A uc004bwa.1 - 5 1252 c.819C>T c.(817-819)CTC>CTT p.L273L NM_006336 NP_006327 Q7Z7L7 ZER1_HUMAN zyg-11 homolog B (C. elegans)-like 273 ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity ovary(1) 1 TCTGCACAAAGAGGCTCAGCA 0.557 NaN 0 0 0 1 0 13 70 C9orf50 375759 broad.mit.edu 37 9 132375791 132375791 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:132375791C>G uc004byc.3 - 5 1168 c.966G>C c.(964-966)GAG>GAC p.E322D C9orf50_uc004byb.3_RNA NM_199350 NP_955382 Q5SZB4 CI050_HUMAN hypothetical protein LOC375759 322 ovary(1)|central_nervous_system(1) 2 Ovarian(14;0.00556) TGGGCAAACTCTCCAGCCGTT 0.632 NaN 0 0 0 1 0 32 84 TOR1A 1861 broad.mit.edu 37 9 132584879 132584879 + Nonsense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:132584879G>C uc004byl.2 - 2 502 c.425C>G c.(424-426)TCA>TGA p.S142* TOR1A_uc004bym.2_RNA|TOR1A_uc004byn.2_Nonsense_Mutation_p.S142* NM_000113 NP_000104 O14656 TOR1A_HUMAN torsin A precursor 142 chaperone mediated protein folding requiring cofactor|response to unfolded protein endoplasmic reticulum lumen|nuclear membrane ATP binding|serine-type endopeptidase activity|unfolded protein binding central_nervous_system(1) 1 Ovarian(14;0.00556) GGTGATGTTTGAAGCATGTGG 0.463 NaN 0 0 0 1 0 14 67 LAMC3 10319 broad.mit.edu 37 9 133948211 133948211 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:133948211C>T uc004caa.1 + 19 3504 c.3406C>T c.(3406-3408)CTC>TTC p.L1136F NM_006059 NP_006050 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 precursor 1136 Domain II and I. cell adhesion basement membrane|membrane structural molecule activity ovary(2)|pancreas(1) 3 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) AGCTGCCATTCTCGCGTCTCT 0.453 NaN 0 0 0 1 0 5 18 GTF3C4 9329 broad.mit.edu 37 9 135553634 135553634 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:135553634G>C uc010mzv.2 + 2 886 c.628G>C c.(628-630)GAG>CAG p.E210Q GTF3C4_uc010mzw.2_RNA NM_012204 NP_036336 Q9UKN8 TF3C4_HUMAN general transcription factor IIIC 4 210 transcription initiation from RNA polymerase III promoter transcription factor TFIIIC complex DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding ovary(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05) TGACCTGACTGAGATCTATGG 0.507 NaN 0 0 0 1 0 19 66 TSC1 7248 broad.mit.edu 37 9 135778026 135778026 + Missense_Mutation SNP C C T rs118203683 TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 C T C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:135778026C>T uc004cca.2 - 18 2591 c.2357G>A c.(2356-2358)CGA>CAA p.R786Q TSC1_uc004ccb.3_Missense_Mutation_p.R785Q|TSC1_uc011mcq.1_Missense_Mutation_p.R735Q|TSC1_uc011mcr.1_Intron NM_000368 NP_000359 Q92574 TSC1_HUMAN tuberous sclerosis 1 protein isoform 1 786 Potential. activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus cell cortex|lamellipodium|membrane|TSC1-TSC2 complex chaperone binding|protein N-terminus binding p.?(1) lung(4)|central_nervous_system(3)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|skin(1)|ovary(1)|bone(1) 14 OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06) GAATTCCTCTCGGTCATGCTG 0.527 NaN D|Mis|N|F|S hamartoma|renal cell Tuberous_Sclerosis OREG0019577 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 1 0 39 141 RALGDS 5900 broad.mit.edu 37 9 136004577 136004577 + Silent SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:136004577G>C uc004ccr.2 - 1 212 c.129C>G c.(127-129)CTC>CTG p.L43L RALGDS_uc011mcv.1_Intron|RALGDS_uc004ccs.2_Intron|RALGDS_uc011mcw.1_Intron NM_001042368 NP_001035827 Q12967 GNDS_HUMAN ral guanine nucleotide dissociation stimulator Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol Ral guanyl-nucleotide exchange factor activity large_intestine(1)|lung(1)|ovary(1) 3 OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05) TCGGGCTTTGGAGAGCGGCAC 0.687 NaN T CIITA PMBL|Hodgkin Lymphona| 0 0 0 1 0 4 19 MED22 6837 broad.mit.edu 37 9 136213407 136213407 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:136213407G>C uc004cdc.2 - 2 345 c.111C>G c.(109-111)ATC>ATG p.I37M MED22_uc004cdd.2_Missense_Mutation_p.I37M|RPL7A_uc004cde.1_5'Flank|SNORD24_uc010nah.2_5'Flank|RPL7A_uc004cdf.1_5'Flank NM_133640 NP_598395 Q15528 MED22_HUMAN mediator complex subunit 22 isoform b 37 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|mediator complex|soluble fraction protein binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(145;1.14e-06)|Epithelial(140;8.2e-06)|all cancers(34;6.94e-05) TGGCGGTCTTGATGATCTCGG 0.597 NaN 0 0 0 1 0 33 80 GLT6D1 360203 broad.mit.edu 37 9 138516451 138516451 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:138516451C>T uc010nbd.1 - 5 577 c.323G>A c.(322-324)CGA>CAA p.R108Q NM_182974 NP_892019 Q7Z4J2 GL6D1_HUMAN glycosyltransferase 6 domain containing 1 108 Lumenal (Potential). carbohydrate metabolic process integral to membrane transferase activity, transferring hexosyl groups ovary(1) 1 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05) GAAGATCACTCGGTAGCCTGT 0.493 NaN 0 0 0 1 0 21 63 NOTCH1 4851 broad.mit.edu 37 9 139396271 139396271 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:139396271G>A uc004chz.2 - 30 5567 c.5567C>T c.(5566-5568)TCT>TTT p.S1856F NM_017617 NP_060087 P46531 NOTC1_HUMAN notch1 preproprotein 1856 Cytoplasmic (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1) 856 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GGCCATGGCAGACATGCGCAG 0.652 NaN T|Mis|O TRB@ T-ALL HNSCC(8;0.001) 0 0 0 1 0 14 47 ABCA2 20 broad.mit.edu 37 9 139906347 139906347 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:139906347G>A uc011mem.1 - 34 5629 c.5481C>T c.(5479-5481)GTC>GTT p.V1827V ABCA2_uc011mel.1_Silent_p.V1828V|ABCA2_uc004ckl.1_Silent_p.V1758V|ABCA2_uc004ckm.1_Silent_p.V1858V NM_001606 NP_001597 Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A, member 2 1827 cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances 0 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) TGCAGCCGCTGACAAACTGCA 0.627 NaN 0 0 0 1 0 8 25 GRIN1 2902 broad.mit.edu 37 9 140051410 140051410 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:140051410G>C uc004clk.2 + 6 1219 c.889G>C c.(889-891)GAG>CAG p.E297Q GRIN1_uc004cli.1_5'UTR|GRIN1_uc004clj.1_Missense_Mutation_p.E294Q|GRIN1_uc004cll.2_Missense_Mutation_p.E297Q|GRIN1_uc004clm.2_Missense_Mutation_p.E297Q|GRIN1_uc004cln.2_Missense_Mutation_p.E315Q|GRIN1_uc004clo.2_Missense_Mutation_p.E315Q NM_007327 NP_015566 Q05586 NMDZ1_HUMAN NMDA receptor 1 isoform NR1-3 precursor 297 Extracellular (Potential). ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding skin(1) 1 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095) L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) CGAGCTCCTCGAGAAGGAGAA 0.682 NaN 0 0 0 1 0 13 26 ANAPC2 29882 broad.mit.edu 37 9 140075251 140075251 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:140075251G>A uc004clr.1 - 8 1672 c.1599C>T c.(1597-1599)TTC>TTT p.F533F ANAPC2_uc004clq.1_Silent_p.F389F NM_013366 NP_037498 Q9UJX6 ANC2_HUMAN anaphase-promoting complex subunit 2 533 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity anaphase-promoting complex|cytosol|nucleoplasm ubiquitin protein ligase binding|ubiquitin-protein ligase activity ovary(1) 1 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858) GCTCGGGGCTGAAGCTGAACT 0.662 NaN 0 0 0 1 0 25 67 SLC34A3 142680 broad.mit.edu 37 9 140130619 140130619 + Silent SNP C C T rs139559169 TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:140130619C>T uc004cmf.1 + 13 1737 c.1551C>T c.(1549-1551)GTC>GTT p.V517V SLC34A3_uc011met.1_Silent_p.V517V NM_080877 NP_543153 Q8N130 NPT2C_HUMAN solute carrier family 34 (sodium phosphate), 517 Helical; Name=M8; (Potential). cellular phosphate ion homeostasis apical plasma membrane|integral to membrane sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity 0 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057) TGGCCGCTGTCGGGGGTCCCC 0.726 NaN OREG0019630 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 1 0 7 31 PNPLA7 375775 broad.mit.edu 37 9 140437939 140437939 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:140437939C>G uc004cnf.2 - 5 713 c.376G>C c.(376-378)GAC>CAC p.D126H PNPLA7_uc010ncj.1_Missense_Mutation_p.D151H NM_152286 NP_689499 Q6ZV29 PLPL7_HUMAN patatin-like phospholipase domain containing 7 126 lipid metabolic process endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane hydrolase activity skin(1) 1 all_cancers(76;0.126) OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839) TTCTTCACGTCAAACTCCGTG 0.597 NaN 0 0 0 1 0 43 106 CSF2RA 1438 broad.mit.edu 37 X 1419439 1419439 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chrX:1419439G>C uc010nct.2 + 11 1188 c.866G>C c.(865-867)AGA>ACA p.R289T CSF2RA_uc011mhb.1_Missense_Mutation_p.R289T|CSF2RA_uc004cpq.2_Intron|CSF2RA_uc004cpn.2_Missense_Mutation_p.R289T|CSF2RA_uc004cpo.2_Missense_Mutation_p.R289T|CSF2RA_uc010ncu.2_Intron|CSF2RA_uc011mhc.1_Missense_Mutation_p.R156T|CSF2RA_uc004cpp.2_Missense_Mutation_p.R289T|CSF2RA_uc010ncv.2_Missense_Mutation_p.R289T|CSF2RA_uc004cpr.2_Missense_Mutation_p.R289T NM_001161529 NP_001155001 P15509 CSF2R_HUMAN colony stimulating factor 2 receptor alpha chain 289 Extracellular (Potential). extracellular region|integral to plasma membrane cytokine receptor activity ovary(2) 2 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) TCTGAGCCCAGAGCAAAACAC 0.448 NaN 0 0 0 1 0 29 101 IL3RA 3563 broad.mit.edu 37 X 1499937 1499937 + Silent SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chrX:1499937C>G uc004cps.2 + 11 1351 c.1002C>G c.(1000-1002)CTC>CTG p.L334L IL3RA_uc011mhd.1_Silent_p.L256L NM_002183 NP_002174 P26951 IL3RA_HUMAN interleukin 3 receptor, alpha precursor 334 Cytoplasmic (Potential).|Box 1 motif. integral to membrane|plasma membrane interleukin-3 receptor activity skin(2)|lung(1) 3 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) TGCAGAGACTCTTTCCCCGCA 0.537 NaN 0 0 0 1 0 95 279 SFRS17A 8227 broad.mit.edu 37 X 1719909 1719909 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chrX:1719909G>A uc004cqa.2 + 5 1706 c.1510G>A c.(1510-1512)GAG>AAG p.E504K SFRS17A_uc004cqb.2_RNA|ASMT_uc004cqd.2_Intron NM_005088 NP_005079 Q02040 AK17A_HUMAN DNA segment on chromosome X and Y (unique) 155 504 B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction nuclear speck|spliceosomal complex nucleotide binding|protein binding|RNA binding 0 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GGCCCACCCAGAGGCCGACGG 0.721 NaN 0 0 0 1 0 7 32 ZBED1 9189 broad.mit.edu 37 X 2406874 2406874 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chrX:2406874G>A uc004cqg.2 - 2 2088 c.1887C>T c.(1885-1887)GTC>GTT p.V629V DHRSX_uc004cqf.3_Intron|ZBED1_uc004cqh.1_Silent_p.V629V NM_004729 NP_004720 O96006 ZBED1_HUMAN zinc finger, BED-type containing 1 629 nuclear chromosome DNA binding|metal ion binding|protein dimerization activity|transposase activity 0 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) TCTTGGCGCTGACCACGTTGG 0.677 NaN 0 0 0 1 0 86 217 ARHGAP6 395 broad.mit.edu 37 X 11157176 11157176 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chrX:11157176C>G uc004cup.1 - 13 3605 c.2732G>C c.(2731-2733)GGA>GCA p.G911A ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cum.1_Missense_Mutation_p.G708A|ARHGAP6_uc004cun.1_Missense_Mutation_p.G731A NM_013427 NP_038286 O43182 RHG06_HUMAN Rho GTPase activating protein 6 isoform 1 911 actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction actin filament|cytosol phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity urinary_tract(1)|lung(1) 2 TGCTTGGCCTCCCTGGTCCGT 0.716 NaN 0 0 0 1 0 18 6 ASB11 140456 broad.mit.edu 37 X 15311338 15311338 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chrX:15311338C>G uc004cwp.1 - 4 474 c.474G>C c.(472-474)CAG>CAC p.Q158H ASB11_uc004cwo.1_Missense_Mutation_p.Q137H|ASB11_uc010nes.1_RNA|ASB11_uc010net.1_Missense_Mutation_p.Q141H NM_080873 NP_543149 Q8WXH4 ASB11_HUMAN ankyrin repeat and SOCS box-containing protein 158 ANK 3. intracellular signal transduction breast(2)|skin(1) 3 Hepatocellular(33;0.183) GCACCTCCAACTGGGCCTTGG 0.552 NaN 0 0 0 1 0 58 65 SH3KBP1 30011 broad.mit.edu 37 X 19560286 19560286 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chrX:19560286G>A uc004czm.2 - 16 1965 c.1649C>T c.(1648-1650)CCG>CTG p.P550L SH3KBP1_uc011mje.1_Missense_Mutation_p.P289L|SH3KBP1_uc011mjf.1_Missense_Mutation_p.P312L|SH3KBP1_uc004czl.2_Missense_Mutation_p.P513L|SH3KBP1_uc010nfm.2_5'UTR NM_031892 NP_114098 Q96B97 SH3K1_HUMAN SH3-domain kinase binding protein 1 isoform a 550 apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome SH3 domain binding 0 CGGCTTGGGCGGCAGGGATGC 0.632 NaN 0 0 0 1 0 31 37 SH3KBP1 30011 broad.mit.edu 37 X 19713821 19713821 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chrX:19713821C>G uc004czm.2 - 5 745 c.429G>C c.(427-429)AAG>AAC p.K143N SH3KBP1_uc004czl.2_Missense_Mutation_p.K106N NM_031892 NP_114098 Q96B97 SH3K1_HUMAN SH3-domain kinase binding protein 1 isoform a 143 SH3 2. apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome SH3 domain binding 0 ACATTCCAGTCTTCCCGTTGA 0.483 NaN 0 0 0 1 0 31 37 FAM47C 442444 broad.mit.edu 37 X 37027545 37027545 + Silent SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chrX:37027545C>G uc004ddl.1 + 1 1076 c.1062C>G c.(1060-1062)CTC>CTG p.L354L NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN hypothetical protein LOC442444 354 ovary(3) 3 TGTCCCATCTCTGCCCGGAAC 0.627 NaN 0 0 0 1 0 73 50 TSPAN7 7102 broad.mit.edu 37 X 38525537 38525537 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chrX:38525537C>T uc004deg.3 + 2 313 c.244C>T c.(244-246)CGT>TGT p.R82C TSPAN7_uc011mkj.1_Missense_Mutation_p.R108C|TSPAN7_uc011mkk.1_Missense_Mutation_p.R99C|TSPAN7_uc004deh.2_5'UTR NM_004615 NP_004606 P41732 TSN7_HUMAN tetraspanin 7 82 Cytoplasmic (Potential). interspecies interaction between organisms integral to plasma membrane ovary(1) 1 TGCTACATGTCGTGGTAGCCC 0.418 NaN 0 0 0 1 0 11 23 CDK16 5127 broad.mit.edu 37 X 47082968 47082968 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chrX:47082968G>A uc004dho.2 + 2 408 c.12G>A c.(10-12)ATG>ATA p.M4I CDK16_uc011mli.1_Missense_Mutation_p.M10I|CDK16_uc011mlj.1_Missense_Mutation_p.M4I|CDK16_uc011mlk.1_Missense_Mutation_p.M4I|CDK16_uc011mll.1_Missense_Mutation_p.M78I NM_006201 NP_006192 Q00536 CDK16_HUMAN PCTAIRE protein kinase 1 isoform 1 4 ATP binding|cyclin-dependent protein kinase activity|protein binding lung(1) 1 TGGATCGGATGAAGAAGATCA 0.527 NaN 0 0 0 1 0 13 13 GRIPAP1 56850 broad.mit.edu 37 X 48846411 48846411 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chrX:48846411G>A uc004dly.1 - 9 730 c.695C>T c.(694-696)TCC>TTC p.S232F GRIPAP1_uc004dlz.2_Missense_Mutation_p.S122F|GRIPAP1_uc004dma.2_Missense_Mutation_p.S179F NM_020137 NP_064522 Q4V328 GRAP1_HUMAN GRIP1 associated protein 1 isoform 1 232 Potential. early endosome breast(2)|kidney(1) 3 CAGTTTCTCGGAGAGCTGGGG 0.338 NaN 0 0 0 1 0 6 5 KDM5C 8242 broad.mit.edu 37 X 53222481 53222481 + Silent SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chrX:53222481G>T uc004drz.2 - 26 4884 c.4351C>A c.(4351-4353)CGG>AGG p.R1451R KDM5C_uc011moc.1_Intron|KDM5C_uc011mod.1_Intron|KDM5C_uc004dsa.2_Silent_p.R1450R|uc004dsb.1_Intron NM_004187 NP_004178 P41229 KDM5C_HUMAN jumonji, AT rich interactive domain 1C isoform 1451 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1) 18 GCCCGGCCCCGAGCCCGACTC 0.677 NaN N|F|S clear cell renal carcinoma 1 0 1.2644e-06 1 1.30368e-06 16 15 SPIN3 169981 broad.mit.edu 37 X 57021092 57021092 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chrX:57021092C>G uc010nkj.2 - 2 575 c.289G>C c.(289-291)GAA>CAA p.E97Q SPIN3_uc004duu.3_Intron|SPIN3_uc004duw.3_Intron|SPIN3_uc004duv.3_Intron|SPIN3_uc004dux.1_Missense_Mutation_p.E97Q NM_001010862 NP_001010862 Q5JUX0 SPIN3_HUMAN spindlin family, member 3 97 gamete generation ovary(1)|central_nervous_system(1) 2 CTGTGAAGTTCCAATCCATAA 0.398 NaN 0 0 0 1 0 50 57 HEPH 9843 broad.mit.edu 37 X 65390566 65390566 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chrX:65390566C>G uc011moz.1 + 2 223 c.163C>G c.(163-165)CTG>GTG p.L55V HEPH_uc004dwn.2_Missense_Mutation_p.L55V|HEPH_uc004dwo.2_Intron|HEPH_uc010nkr.2_Missense_Mutation_p.L55V|HEPH_uc011mpa.1_Missense_Mutation_p.L55V NM_138737 NP_620074 Q9BQS7 HEPH_HUMAN hephaestin isoform a 52 Extracellular (Potential).|Plastocyanin-like 1. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity lung(5)|ovary(4) 9 GAACCAGCCTCTGGACAGTGA 0.507 NaN 0 0 0 1 0 9 11 STARD8 9754 broad.mit.edu 37 X 67938374 67938374 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chrX:67938374G>A uc004dxa.2 + 5 1750 c.1378G>A c.(1378-1380)GAG>AAG p.E460K STARD8_uc004dxb.2_Missense_Mutation_p.E540K|STARD8_uc004dxc.3_Missense_Mutation_p.E460K NM_014725 NP_055540 Q92502 STAR8_HUMAN StAR-related lipid transfer (START) domain 460 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion GTPase activator activity breast(3)|ovary(2)|pancreas(1) 6 CTCCATGAATGAGGCTGAGGC 0.592 NaN 0 0 0 1 0 14 14 MED12 9968 broad.mit.edu 37 X 70338683 70338683 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chrX:70338683C>G uc004dyy.2 + 1 278 c.79C>G c.(79-81)CAG>GAG p.Q27E MED12_uc011mpq.1_Missense_Mutation_p.Q27E|MED12_uc004dyz.2_Missense_Mutation_p.Q27E|MED12_uc004dza.2_5'Flank NM_005120 NP_005111 Q93074 MED12_HUMAN mediator complex subunit 12 27 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Renal(35;0.156) TGTTTACCCTCAGGACCCCAA 0.677 NaN 0 0 0 1 0 12 14 ZMYM3 9203 broad.mit.edu 37 X 70465551 70465551 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chrX:70465551C>T uc004dzh.1 - 17 2914 c.2827G>A c.(2827-2829)GAG>AAG p.E943K BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Missense_Mutation_p.E943K|ZMYM3_uc004dzj.1_Missense_Mutation_p.E931K NM_201599 NP_963893 Q14202 ZMYM3_HUMAN zinc finger protein 261 943 multicellular organismal development nucleus DNA binding|zinc ion binding ovary(1) 1 Renal(35;0.156) TCTAACTCCTCAGCCTCTGCA 0.547 NaN 0 0 0 1 0 10 12 PHKA1 5255 broad.mit.edu 37 X 71915560 71915560 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chrX:71915560G>A uc004eax.3 - 4 753 c.452C>T c.(451-453)TCA>TTA p.S151L PHKA1_uc004eay.3_Missense_Mutation_p.S151L|PHKA1_uc011mqi.1_Missense_Mutation_p.S151L NM_002637 NP_002628 P46020 KPB1_HUMAN phosphorylase kinase, alpha 1 (muscle) isoform 151 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) GTACTGACCTGAGGCAGTCAT 0.498 NaN 0 0 0 1 0 16 19 POU3F4 5456 broad.mit.edu 37 X 82763834 82763834 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chrX:82763834G>A uc004eeg.2 + 1 566 c.502G>A c.(502-504)GAG>AAG p.E168K NM_000307 NP_000298 P49335 PO3F4_HUMAN POU domain, class 3, transcription factor 4 168 sensory perception of sound nucleus sequence-specific DNA binding transcription factor activity ovary(1) 1 GGTGCTCCGAGAGCCCCCGGA 0.637 NaN 0 0 0 1 0 10 6 RPS6KA6 27330 broad.mit.edu 37 X 83361413 83361413 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chrX:83361413C>T uc004eej.1 - 15 1402 c.1325G>A c.(1324-1326)CGA>CAA p.R442Q RPS6KA6_uc011mqt.1_Missense_Mutation_p.R442Q|RPS6KA6_uc011mqu.1_Missense_Mutation_p.R339Q NM_014496 NP_055311 Q9UK32 KS6A6_HUMAN ribosomal protein S6 kinase polypeptide 6 442 Protein kinase 2. axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity lung(5)|stomach(1)|central_nervous_system(1)|skin(1) 8 ATGTATGCATCGCTTGCAAAC 0.353 NaN 0 0 0 1 0 4 7 RAB9B 51209 broad.mit.edu 37 X 103080330 103080330 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chrX:103080330C>T uc004ell.1 - 3 670 c.385G>A c.(385-387)GAG>AAG p.E129K RAB9B_uc004eli.1_Intron NM_016370 NP_057454 Q9NP90 RAB9B_HUMAN RAB9B, member RAS oncogene family 129 Golgi to endosome transport|protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|protein binding lung(3) 3 TGCCTATCCTCTTTGTCTACC 0.433 NaN 0 0 0 1 0 94 87 ZCCHC16 340595 broad.mit.edu 37 X 111698857 111698857 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chrX:111698857C>T uc004epo.1 + 3 1342 c.901C>T c.(901-903)CCG>TCG p.P301S NM_001004308 NP_001004308 Q6ZR62 ZCH16_HUMAN zinc finger, CCHC domain containing 16 301 nucleic acid binding|zinc ion binding ovary(1) 1 TTCTCGAGCTCCGGCAACGAC 0.478 NaN 0 0 0 1 0 22 25 ZCCHC12 170261 broad.mit.edu 37 X 117959628 117959628 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chrX:117959628C>G uc004equ.2 + 4 894 c.421C>G c.(421-423)CAA>GAA p.Q141E NM_173798 NP_776159 Q6PEW1 ZCH12_HUMAN zinc finger, CCHC domain containing 12 141 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleic acid binding|zinc ion binding ovary(1) 1 cctacaagctcaaggggagaa 0 NaN 0 0 0 1 0 57 67 CUL4B 8450 broad.mit.edu 37 X 119669775 119669775 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chrX:119669775G>C uc004esw.2 - 18 2561 c.2124C>G c.(2122-2124)TTC>TTG p.F708L CUL4B_uc010nqq.2_Missense_Mutation_p.F409L|CUL4B_uc004esv.2_Missense_Mutation_p.F690L NM_003588 NP_003579 Q13620 CUL4B_HUMAN cullin 4B isoform 1 708 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 AAAATGTCTTGAAAATCTCCT 0.348 NaN 0 0 0 1 0 43 26 FMR1NB 158521 broad.mit.edu 37 X 147088242 147088242 + Nonsense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chrX:147088242C>T uc004fcm.2 + 3 492 c.418C>T c.(418-420)CAG>TAG p.Q140* NM_152578 NP_689791 Q8N0W7 FMR1N_HUMAN fragile X mental retardation 1 neighbor 140 P-type.|Extracellular (Potential). integral to membrane ovary(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) GAGGGAAAATCAGGTGGCAAA 0.378 NaN 0 0 0 1 0 29 30 MTM1 4534 broad.mit.edu 37 X 149807437 149807437 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chrX:149807437G>A uc004fef.3 + 7 542 c.466G>A c.(466-468)GAA>AAA p.E156K MTM1_uc011mxx.1_RNA|MTM1_uc011mxy.1_Missense_Mutation_p.E119K|MTM1_uc011mxz.1_Missense_Mutation_p.E41K|MTM1_uc010nte.2_Missense_Mutation_p.E24K NM_000252 NP_000243 Q13496 MTM1_HUMAN myotubularin 156 endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization filopodium|late endosome|plasma membrane|ruffle intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity upper_aerodigestive_tract(1)|ovary(1)|kidney(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) ATTTTTAAATGAAGAAAAGTT 0.348 NaN 0 0 0 1 0 23 27 GABRA3 2556 broad.mit.edu 37 X 151358368 151358368 + Missense_Mutation SNP C C A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chrX:151358368C>A uc010ntk.1 - 9 1217 c.977G>T c.(976-978)AGA>ATA p.R326I NM_000808 NP_000799 P34903 GBRA3_HUMAN gamma-aminobutyric acid A receptor, alpha 3 326 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding ovary(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TAAGGAATTTCTGGCACTGAT 0.458 NaN 1 0 1.66031e-10 1 1.73405e-10 20 29 TREX2 11219 broad.mit.edu 37 X 152710201 152710201 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chrX:152710201C>T uc010nue.1 - 3 930 c.814G>A c.(814-816)GAT>AAT p.D272N TREX2_uc010nud.1_Missense_Mutation_p.D230N|TREX2_uc011myp.1_Missense_Mutation_p.D230N|HAUS7_uc004fhl.2_RNA|HAUS7_uc004fhm.2_RNA NM_080701 NP_542432 Q9BQ50 TREX2_HUMAN three prime repair exonuclease 2 273 DNA repair nucleus 3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|nucleic acid binding large_intestine(1) 1 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CTGGGGTCATCAGGCGGCAAG 0.687 NaN Editing_and_processing_nucleases 0 0 0 1 0 5 3 UTY 7404 broad.mit.edu 37 Y 15478205 15478205 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chrY:15478205G>A uc004fsx.1 - 10 1813 c.808C>T c.(808-810)CTC>TTC p.L270F UTY_uc004fsy.2_Missense_Mutation_p.L270F|UTY_uc004fsz.2_Missense_Mutation_p.L270F NM_007125 NP_009056 O14607 UTY_HUMAN tetratricopeptide repeat protein isoform 3 270 TPR 5. chromatin modification nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 GACTTTTGGAGATACTGAATA 0.368 NaN 0 0 0 1 0 12 22 TMEM52 339456 broad.mit.edu 37 1 1850628 1850636 + In_Frame_Del DEL AGCGGCAGG AGCGGCAGG - TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:1850628_1850636delAGCGGCAGG uc001aij.2 - 1 105_113 c.69_77delCCTGCCGCT c.(67-78)CTCCTGCCGCTG>CTG p.23_26LLPL>L TMEM52_uc001aii.2_5'Flank NM_178545 NP_848640 Q8NDY8 TMM52_HUMAN transmembrane protein 52 precursor 23_26 integral to membrane 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;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;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) CACCTgcggcagcggcaggagcggcagga 0.569 NaN NaN NaN NaN NaN NaN 5 3 --- --- EIF4EBP2 1979 broad.mit.edu 37 10 72179690 72179691 + Frame_Shift_Del DEL AG AG - TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:72179690_72179691delAG uc001jrb.2 + 2 463_464 c.166_167delAG c.(166-168)AGAfs p.R56fs NM_004096 NP_004087 Q13542 4EBP2_HUMAN eukaryotic translation initiation factor 4E 56 negative regulation of translational initiation|translation eukaryotic initiation factor 4E binding 0 CATTTATGACAGAAAGTTTCTG 0.421 NaN NaN NaN NaN NaN NaN 29 112 --- --- MYEOV 26579 broad.mit.edu 37 11 69063227 69063257 + Frame_Shift_Del DEL GGTGACCGGGAGAGAAACAAGGGAGACAAGG GGTGACCGGGAGAGAAACAAGGGAGACAAGG - TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:69063227_69063257delGGTGACCGGGAGAGAAACAAGGGAGACAAGG uc001oov.2 + 3 760_790 c.310_340delGGTGACCGGGAGAGAAACAAGGGAGACAAGG c.(310-342)GGTGACCGGGAGAGAAACAAGGGAGACAAGGGTfs p.G104fs MYEOV_uc001oox.2_Intron|MYEOV_uc009ysl.2_Frame_Shift_Del_p.G104fs|MYEOV_uc001oow.2_Frame_Shift_Del_p.G46fs NM_138768 NP_620123 Q96EZ4 MYEOV_HUMAN myeloma overexpressed 104_114 0 all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128) LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713) Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153) TGCTGGAGCTGGTGACCGGGAGAGAAACAAGGGAGACAAGGGTGCCCAGAC 0.636 NaN NaN NaN NaN NaN NaN 17 154 --- --- ANKRD11 29123 broad.mit.edu 37 16 89348573 89348573 + Frame_Shift_Del DEL C C - TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:89348573delC uc002fmx.1 - 9 4838 c.4377delG c.(4375-4377)AAGfs p.K1459fs ANKRD11_uc002fmy.1_Frame_Shift_Del_p.K1459fs|ANKRD11_uc002fnc.1_Frame_Shift_Del_p.K1459fs|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Frame_Shift_Del_p.K1416fs NM_013275 NP_037407 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 1459 Lys-rich. nucleus ovary(4)|large_intestine(1)|central_nervous_system(1) 6 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) ctctcttcttcttctctttTA 0.343 NaN NaN NaN NaN NaN NaN 30 76 --- --- HLA-A 3105 broad.mit.edu 37 6 29910640 29910640 + Frame_Shift_Del DEL C C - rs3173429 TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:29910640delC uc003nol.2 + 2 180 c.180delC c.(178-180)TTCfs p.F60fs 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_Frame_Shift_Del_p.F60fs|HLA-A_uc003noo.2_Frame_Shift_Del_p.F60fs|HLA-A_uc010jrr.2_Frame_Shift_Del_p.F60fs|HLA-A_uc003nom.2_5'UTR|HLA-A_uc010klp.2_Frame_Shift_Del_p.F32fs|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 60 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 TCGTGCGGTTCGACAGCGACG 0.667 NaN 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) NaN NaN NaN NaN NaN 19 68 --- --- KIAA1949 170954 broad.mit.edu 37 6 30653003 30653003 + Frame_Shift_Del DEL A A - TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:30653003delA uc003nra.2 - 2 1024 c.793delT c.(793-795)TCAfs p.S265fs KIAA1949_uc003nrb.3_Frame_Shift_Del_p.S265fs NM_001134870 NP_001128342 Q6NYC8 PHTNS_HUMAN phostensin 265 cytoplasm|cytoskeleton actin binding 0 TCTTCTCCTGACCTCAGCCTC 0.522 NaN NaN NaN NaN NaN NaN 9 396 --- --- ARFGEF1 10565 broad.mit.edu 37 8 68150658 68150658 + Frame_Shift_Del DEL G G - TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:68150658delG uc003xxo.1 - 22 3599 c.3209delC c.(3208-3210)TCTfs p.S1070fs ARFGEF1_uc003xxl.1_Frame_Shift_Del_p.S524fs|ARFGEF1_uc003xxn.1_Frame_Shift_Del_p.S53fs NM_006421 NP_006412 Q9Y6D6 BIG1_HUMAN brefeldin A-inhibited guanine 1070 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1) 8 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) CACTGTTCCAGAAATGTATCG 0.398 NaN NaN NaN NaN NaN NaN 15 49 --- --- CSMD3 114788 broad.mit.edu 37 8 113504853 113504853 + Frame_Shift_Del DEL T T - TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:113504853delT uc003ynu.2 - 31 5302 c.5143delA c.(5143-5145)ATGfs p.M1715fs CSMD3_uc003yns.2_Frame_Shift_Del_p.M987fs|CSMD3_uc003ynt.2_Frame_Shift_Del_p.M1675fs|CSMD3_uc011lhx.1_Frame_Shift_Del_p.M1611fs NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1715 Extracellular (Potential).|Sushi 9. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 TTATAATCCATTCCAAGTCTG 0.373 NaN HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) NaN NaN NaN NaN NaN 22 83 --- ---