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 SDF4 51150 broad.mit.edu 37 1 1153867 1153867 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:1153867C>T uc001adh.3 - 6 1212 c.883G>A c.(883-885)GAC>AAC p.D295N SDF4_uc001adg.2_RNA|SDF4_uc001adi.3_Missense_Mutation_p.D295N|SDF4_uc009vjv.2_Missense_Mutation_p.D173N|SDF4_uc009vjw.2_RNA NM_016176 NP_057260 Q9BRK5 CAB45_HUMAN stromal cell derived factor 4 isoform 2 295 EF-hand 5.|5 (Potential). cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis bleb|Golgi lumen|late endosome|soluble fraction calcium ion binding|calcium ion binding|identical protein binding|protein binding upper_aerodigestive_tract(1)|large_intestine(1) 2 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204) ACGATGCCGTCGTGGTTGGAG 0.642 NaN 0 0 0 0.001855 0 12 30 FAM132A 388581 broad.mit.edu 37 1 1178268 1178268 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:1178268C>G uc001adl.1 - 7 789 c.757G>C c.(757-759)GAG>CAG p.E253Q NM_001014980 NP_001014980 Q5T7M4 F132A_HUMAN family with sequence similarity 132, member A 253 extracellular region 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-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;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.22e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) CTGTTGCTCTCCAGGCCTGAG 0.682 NaN 0 0 0 0.009096 0 3 28 SCNN1D 6339 broad.mit.edu 37 1 1225697 1225697 + Missense_Mutation SNP C C T rs137911309 by1000genomes TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:1225697C>T uc001adu.1 + 12 1841 c.1217C>T c.(1216-1218)TCC>TTC p.S406F SCNN1D_uc001adt.1_Missense_Mutation_p.S570F|SCNN1D_uc001adw.2_Missense_Mutation_p.S472F|SCNN1D_uc001adx.2_Missense_Mutation_p.S195F|SCNN1D_uc001adv.2_Missense_Mutation_p.S406F NM_002978 NP_002969 sodium channel, nonvoltage-gated 1, delta 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199) GAGACCTGCTCCTGTGGCTAC 0.672 NaN 0 0 0 0.008291 0 4 15 SCNN1D 6339 broad.mit.edu 37 1 1226989 1226989 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:1226989G>A uc001adu.1 + 17 2540 c.1916G>A c.(1915-1917)TGA>TAA p.*639* SCNN1D_uc001adt.1_Silent_p.*803*|SCNN1D_uc001adw.2_Silent_p.*705*|SCNN1D_uc001adx.2_Silent_p.*428*|SCNN1D_uc001adv.2_Silent_p.*639* NM_002978 NP_002969 sodium channel, nonvoltage-gated 1, delta 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199) CTGGACACCTGAACCAGACCT 0.677 NaN 0 0 0 0.012213 0 29 17 PUSL1 126789 broad.mit.edu 37 1 1244841 1244841 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:1244841C>T uc001aed.2 + 4 361 c.331C>T c.(331-333)CGG>TGG p.R111W ACAP3_uc001aeb.2_5'Flank|ACAP3_uc001aec.1_5'UTR|PUSL1_uc010nyi.1_5'UTR|PUSL1_uc009vjx.2_5'UTR NM_153339 NP_699170 Q8N0Z8 PUSL1_HUMAN pseudouridylate synthase-like 1 111 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding skin(1) 1 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-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;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) TAGGGTCCTGCGGGCCTTCCG 0.672 NaN 0 0 0 0.001984 0 6 5 MXRA8 54587 broad.mit.edu 37 1 1290312 1290312 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:1290312G>A uc001aew.2 - 5 730 c.699C>T c.(697-699)GCC>GCT p.A233A MXRA8_uc001aex.3_Silent_p.A233A|MXRA8_uc001aey.3_Silent_p.A233A|MXRA8_uc010nyl.1_Silent_p.A233A|MXRA8_uc001aez.2_Silent_p.A132A|MXRA8_uc001afa.2_Silent_p.A224A NM_032348 NP_115724 Q9BRK3 MXRA8_HUMAN matrix-remodelling associated 8 precursor 233 Ig-like V-type 2.|Extracellular (Potential). integral to membrane 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-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;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) GGGGCCCGTAGGCGCGGCGCT 0.721 NaN 0 0 0 0.000602 0 4 8 CCNL2 81669 broad.mit.edu 37 1 1334489 1334489 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:1334489C>T uc001afi.2 - 1 230 c.198G>A c.(196-198)TCG>TCA p.S66S CCNL2_uc001afg.1_5'Flank|CCNL2_uc001afh.2_Silent_p.S66S|CCNL2_uc001afj.2_Silent_p.S66S|CCNL2_uc001afk.2_Silent_p.S66S|LOC148413_uc001afm.2_5'Flank|LOC148413_uc001afn.1_5'Flank|LOC148413_uc009vkc.1_5'Flank|LOC148413_uc009vkd.2_5'Flank NM_030937 NP_112199 Q96S94 CCNL2_HUMAN cyclin L2 isoform A 66 regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent nuclear speck protein kinase binding ovary(2)|central_nervous_system(1) 3 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146) CGAGGCCGCTCGACATGGACG 0.672 NaN 0 0 0 0.001168 0 4 36 ATAD3A 55210 broad.mit.edu 37 1 1459719 1459719 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:1459719C>T uc001afz.1 + 11 1394 c.1300C>T c.(1300-1302)CGG>TGG p.R434W ATAD3A_uc001aga.1_Missense_Mutation_p.R386W|ATAD3A_uc001agb.1_Missense_Mutation_p.R307W NM_018188 NP_060658 Q9NVI7 ATD3A_HUMAN ATPase family, AAA domain containing 3A 434 ATP binding|nucleoside-triphosphatase activity|protein binding skin(1) 1 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-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;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147) CCCCATGGGGCGGGAAGGCGT 0.647 NaN 0 0 0 0.010729 0 8 59 GNB1 2782 broad.mit.edu 37 1 1720630 1720630 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:1720630C>T uc001aif.2 - 10 1110 c.778G>A c.(778-780)GAG>AAG p.E260K GNB1_uc009vky.2_Missense_Mutation_p.E160K NM_002074 NP_002065 P62873 GBB1_HUMAN guanine nucleotide-binding protein, beta-1 260 cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission heterotrimeric G-protein complex GTPase activity|GTPase binding|signal transducer activity 0 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236) GTCATGAGCTCCTGGTCAGCA 0.527 NaN OREG0012998 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.007835 0 39 31 GNB1 2782 broad.mit.edu 37 1 1720636 1720636 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:1720636C>T uc001aif.2 - 10 1104 c.772G>A c.(772-774)GAC>AAC p.D258N GNB1_uc009vky.2_Missense_Mutation_p.D158N NM_002074 NP_002065 P62873 GBB1_HUMAN guanine nucleotide-binding protein, beta-1 258 cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission heterotrimeric G-protein complex GTPase activity|GTPase binding|signal transducer activity 0 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236) AGCTCCTGGTCAGCACGAAGG 0.532 NaN OREG0012998 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.004482 0 9 61 C1orf86 199990 broad.mit.edu 37 1 2125482 2125482 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:2125482C>T uc001aiy.2 - 2 179 c.153G>A c.(151-153)CTG>CTA p.L51L C1orf86_uc001aiv.1_RNA|C1orf86_uc001aiw.1_RNA|C1orf86_uc001aix.1_Intron NM_182533 NP_872339 Q6NZ36 CA086_HUMAN hypothetical protein LOC199990 isoform 2 51 0 all_cancers(77;0.000134)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;1.09e-37)|OV - Ovarian serous cystadenocarcinoma(86;1.5e-23)|GBM - Glioblastoma multiforme(42;1.61e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.0134)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199) GATCCAGGATCAGCTCCGGGC 0.677 NaN 0 0 0 0.00333 0 24 58 MORN1 79906 broad.mit.edu 37 1 2268254 2268254 + Nonsense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:2268254G>A uc001ajb.1 - 11 1093 c.1072C>T c.(1072-1074)CAG>TAG p.Q358* MORN1_uc009vld.2_Nonsense_Mutation_p.Q334* NM_024848 NP_079124 Q5T089 MORN1_HUMAN MORN repeat containing 1 358 ovary(2)|central_nervous_system(1) 3 all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-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;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212) TCCACTCGCTGACAGGCCCCG 0.652 NaN 0 0 0 0.001855 0 11 15 C1orf93 127281 broad.mit.edu 37 1 2520475 2520475 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:2520475C>G uc001aju.1 + 6 651 c.575C>G c.(574-576)CCT>CGT p.P192R C1orf93_uc001ajw.1_Silent_p.A181A|C1orf93_uc001ajv.1_Missense_Mutation_p.P210R|C1orf93_uc010nzd.1_Missense_Mutation_p.P188R|C1orf93_uc010nze.1_Missense_Mutation_p.P156R|C1orf93_uc010nzf.1_Missense_Mutation_p.P155R|C1orf93_uc001ajx.1_Missense_Mutation_p.L65V NM_152371 NP_689584 Q8TBF2 PGFS_HUMAN hypothetical protein LOC127281 192 prostaglandin biosynthetic process cytosol oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor central_nervous_system(1) 1 all_cancers(77;0.000167)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634) all_epithelial(116;1.97e-16)|all_lung(118;3.05e-07)|Lung NSC(185;2.8e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Lung SC(97;0.109)|Ovarian(437;0.127)|Medulloblastoma(700;0.151) Epithelial(90;4.76e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.19e-23)|GBM - Glioblastoma multiforme(42;1.13e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.00205)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.199) AGCGACCCGCCTCAGGTGAGC 0.682 NaN 0 0 0 0.004007 0 15 29 PRDM16 63976 broad.mit.edu 37 1 3319489 3319489 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:3319489G>C uc001akf.2 + 6 891 c.811G>C c.(811-813)GAG>CAG p.E271Q PRDM16_uc001akc.2_Missense_Mutation_p.E271Q|PRDM16_uc001akd.2_Missense_Mutation_p.E271Q|PRDM16_uc001ake.2_Missense_Mutation_p.E271Q|PRDM16_uc009vlh.2_5'UTR NM_022114 NP_071397 Q9HAZ2 PRD16_HUMAN PR domain containing 16 isoform 1 271 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) GCTCAAGCCCGAGGGCCTTGG 0.622 NaN T EVI1 MDS|AML 0 0 0 0.010729 0 11 49 TPRG1L 127262 broad.mit.edu 37 1 3542350 3542350 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:3542350G>A uc001akm.2 + 3 448 c.367G>A c.(367-369)GAC>AAC p.D123N TPRG1L_uc009vlj.2_Intron NM_182752 NP_877429 Q5T0D9 TPRGL_HUMAN tumor protein p63 regulated 1-like 123 cell junction|synaptic vesicle 0 all_cancers(77;0.0119)|all_epithelial(69;0.00481)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172) all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211) Epithelial(90;3.41e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.83e-22)|GBM - Glioblastoma multiforme(42;4.77e-14)|Colorectal(212;1.12e-05)|COAD - Colon adenocarcinoma(227;5.61e-05)|Kidney(185;0.000351)|BRCA - Breast invasive adenocarcinoma(365;0.000688)|KIRC - Kidney renal clear cell carcinoma(229;0.00553)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.201) CTGTAAATACGACTTCATCAG 0.547 NaN 0 0 0 0.00308 0 8 36 WDR8 49856 broad.mit.edu 37 1 3547608 3547608 + Silent SNP G G A rs145375547 TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:3547608G>A uc001ako.2 - 12 1422 c.1314C>T c.(1312-1314)TTC>TTT p.F438F WDR8_uc001akn.3_3'UTR NM_017818 NP_060288 Q9P2S5 WRP73_HUMAN WD repeat domain 8 438 centrosome protein binding 0 all_cancers(77;0.0128)|all_epithelial(69;0.00526)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172) all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211) Epithelial(90;4.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.16e-22)|GBM - Glioblastoma multiforme(42;1.05e-14)|Colorectal(212;1.19e-05)|BRCA - Breast invasive adenocarcinoma(365;2.67e-05)|COAD - Colon adenocarcinoma(227;5.82e-05)|Kidney(185;0.000364)|KIRC - Kidney renal clear cell carcinoma(229;0.00223)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203) AGCAGAGGCAGAAGTGATCCT 0.592 NaN 0 0 0 0.011902 0 44 77 CHD5 26038 broad.mit.edu 37 1 6195343 6195343 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:6195343G>A uc001amb.1 - 18 2917 c.2817C>T c.(2815-2817)AAC>AAT p.N939N CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA|CHD5_uc009vlx.1_RNA NM_015557 NP_056372 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 939 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1) 12 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) TGGCCGGCATGTTCTTGAACA 0.597 NaN 0 0 0 0.005443 0 27 83 DNAJC11 55735 broad.mit.edu 37 1 6696217 6696217 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:6696217C>T uc001aof.2 - 15 1720 c.1614G>A c.(1612-1614)GTG>GTA p.V538V DNAJC11_uc010nzt.1_Intron|DNAJC11_uc001aog.2_Silent_p.V486V|DNAJC11_uc010nzu.1_Silent_p.V448V NM_018198 NP_060668 Q9NVH1 DJC11_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 11 538 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) CCAGCACCATCACCTGATGCA 0.597 NaN 0 0 0 0.004656 0 27 36 RERE 473 broad.mit.edu 37 1 8420690 8420690 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:8420690C>T uc001ape.2 - 19 3687 c.2877G>A c.(2875-2877)ATG>ATA p.M959I RERE_uc001apf.2_Missense_Mutation_p.M959I|RERE_uc010nzx.1_Missense_Mutation_p.M691I|RERE_uc001apd.2_Missense_Mutation_p.M405I NM_012102 NP_036234 Q9P2R6 RERE_HUMAN atrophin-1 like protein isoform a 959 Pro-rich. multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) GGTTGGCATTCATGGAGAAGG 0.687 NaN 0 0 0 0.00632 0 24 100 SLC25A33 84275 broad.mit.edu 37 1 9613859 9613859 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:9613859C>T uc001apw.2 + 2 455 c.232C>T c.(232-234)CTG>TTG p.L78L SLC25A33_uc001apx.2_5'UTR NM_032315 NP_115691 Q9BSK2 S2533_HUMAN mitochondrial carrier protein MGC4399 78 Solcar 1. transport integral to membrane|mitochondrial inner membrane 0 all_lung(157;0.246) all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419) CTTTCAGGTTCTGAAGTAAGT 0.493 NaN 0 0 0 0.00308 0 7 44 RBP7 116362 broad.mit.edu 37 1 10067689 10067689 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:10067689G>A uc001aqq.2 + 2 197 c.135G>A c.(133-135)CAG>CAA p.Q45Q RBP7_uc009vms.2_RNA NM_052960 NP_443192 Q96R05 RET7_HUMAN retinol binding protein 7, cellular 45 cytoplasm retinal binding|retinol binding|transporter activity 0 all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|BRCA - Breast invasive adenocarcinoma(304;0.000302)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00856)|READ - Rectum adenocarcinoma(331;0.0419) Vitamin A(DB00162) TGATTGAGCAGAATGGGGATT 0.368 NaN 0 0 0 0.008871 0 20 62 UBE4B 10277 broad.mit.edu 37 1 10195078 10195078 + Missense_Mutation SNP T T A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:10195078T>A uc001aqs.3 + 16 2771 c.2058T>A c.(2056-2058)TTT>TTA p.F686L UBE4B_uc001aqr.3_Missense_Mutation_p.F557L|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_Missense_Mutation_p.F141L|UBE4B_uc001aqt.1_Missense_Mutation_p.F26L NM_001105562 NP_001099032 O95155 UBE4B_HUMAN ubiquitination factor E4B isoform 1 686 apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV cytoplasm|ubiquitin ligase complex enzyme binding ovary(2)|skin(2) 4 all_lung(284;1.13e-05)|Lung NSC(185;1.74e-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;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046) CAGATGGATTTATGCTGAATT 0.294 NaN 0 0 0 0.012319 0 21 93 CLCN6 1185 broad.mit.edu 37 1 11882771 11882771 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:11882771G>A uc001ate.3 + 6 479 c.366G>A c.(364-366)CAG>CAA p.Q122Q CLCN6_uc009vnf.1_Silent_p.Q122Q|CLCN6_uc009vng.1_Silent_p.Q122Q|CLCN6_uc009vnh.1_Silent_p.Q122Q|CLCN6_uc010oat.1_5'UTR|CLCN6_uc010oau.1_Silent_p.Q100Q NM_001286 NP_001277 P51797 CLCN6_HUMAN chloride channel 6 isoform ClC-6a 122 cell volume homeostasis|signal transduction endosome membrane|integral to membrane antiporter activity|ATP binding|voltage-gated chloride channel activity 0 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) AGTGCAGCCAGAAAGGCTGCC 0.547 NaN 0 0 0 0.007835 0 42 93 VPS13D 55187 broad.mit.edu 37 1 12304593 12304593 + Splice_Site SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:12304593G>A uc001atv.2 + 5 508 c.367_splice c.e5-1 p.N123_splice VPS13D_uc001atw.2_Splice_Site_p.N123_splice NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13D isoform 1 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) TGTCTTTGTAGAATGACCGCC 0.458 NaN 0 0 0 0.01441 0 68 82 VPS13D 55187 broad.mit.edu 37 1 12387712 12387712 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:12387712G>A uc001atv.2 + 36 8139 c.7998G>A c.(7996-7998)TTG>TTA p.L2666L VPS13D_uc001atw.2_Silent_p.L2666L|VPS13D_uc001atx.2_Silent_p.L1854L|VPS13D_uc001aty.1_Silent_p.L404L NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13D isoform 1 2666 UBA. 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) AAGGCCAATTGAAAAAGGCAG 0.473 NaN 0 0 0 0.01441 0 90 249 PRDM2 7799 broad.mit.edu 37 1 14105194 14105194 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:14105194G>A uc001avi.2 + 8 1760 c.904G>A c.(904-906)GAA>AAA p.E302K PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.E302K|PRDM2_uc001avj.2_Intron|PRDM2_uc009vod.1_Missense_Mutation_p.E59K|PRDM2_uc001avk.2_Missense_Mutation_p.E101K|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron NM_012231 NP_036363 Q13029 PRDM2_HUMAN retinoblastoma protein-binding zinc finger 302 Retinoblastoma protein binding. 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) CATGCCAAATGAAAATTCTGT 0.234 NaN 0 0 0 0.008871 0 21 72 DNAJC16 23341 broad.mit.edu 37 1 15874821 15874821 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:15874821G>C uc001aws.2 + 7 1041 c.921G>C c.(919-921)TTG>TTC p.L307F DNAJC16_uc001awr.1_Missense_Mutation_p.L307F|DNAJC16_uc001awt.2_5'UTR NM_015291 NP_056106 Q9Y2G8 DJC16_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 16 307 Cytoplasmic (Potential). cell redox homeostasis|protein folding integral to membrane heat shock protein binding|unfolded protein binding urinary_tract(1)|lung(1)|kidney(1) 3 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657) ATGTGGGTTTGAGAGGGACGG 0.398 NaN 0 0 0 0.003271 0 35 72 DDI2 84301 broad.mit.edu 37 1 15956939 15956939 + Nonsense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:15956939C>T uc001awx.1 + 3 484 c.388C>T c.(388-390)CAG>TAG p.Q130* DDI2_uc001aww.2_Nonsense_Mutation_p.Q130*|DDI2_uc009voj.1_5'UTR NM_032341 NP_115717 Q5TDH0 DDI2_HUMAN DNA-damage inducible protein 2 130 proteolysis aspartic-type endopeptidase activity 0 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|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;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656) TTCATCTCCTCAGGGCTTGGA 0.562 NaN 0 0 0 0.014323 0 24 114 PLEKHM2 23207 broad.mit.edu 37 1 16053943 16053943 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:16053943C>T uc010obo.1 + 9 1603 c.1376C>T c.(1375-1377)TCA>TTA p.S459L NM_015164 NP_055979 Q8IWE5 PKHM2_HUMAN pleckstrin homology domain containing, family M 459 Golgi organization cytoplasm kinesin binding ovary(1) 1 Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657) GAGGGGCTTTCAGCCCCAATG 0.632 NaN 0 0 0 0.009096 0 4 12 SPEN 23013 broad.mit.edu 37 1 16259146 16259146 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:16259146G>A uc001axk.1 + 11 6615 c.6411G>A c.(6409-6411)TTG>TTA p.L2137L SPEN_uc010obp.1_Silent_p.L2096L NM_015001 NP_055816 Q96T58 MINT_HUMAN spen homolog, transcriptional regulator 2137 Interaction with MSX2 (By similarity). interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) CATCCCAGTTGAAAAGTGATC 0.557 NaN 0 0 0 0.01441 0 75 153 SPEN 23013 broad.mit.edu 37 1 16259289 16259289 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:16259289C>T uc001axk.1 + 11 6758 c.6554C>T c.(6553-6555)TCT>TTT p.S2185F SPEN_uc010obp.1_Missense_Mutation_p.S2144F NM_015001 NP_055816 Q96T58 MINT_HUMAN spen homolog, transcriptional regulator 2185 Interaction with MSX2 (By similarity). interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) GCTGAGGCCTCTGCCTCTGCT 0.622 NaN 0 0 0 0.01441 0 57 62 ZBTB17 7709 broad.mit.edu 37 1 16269163 16269163 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:16269163C>T uc001axl.3 - 14 2138 c.1899G>A c.(1897-1899)GTG>GTA p.V633V ZBTB17_uc010obq.1_Silent_p.V550V|ZBTB17_uc010obr.1_Silent_p.V633V|ZBTB17_uc010obs.1_Silent_p.V557V NM_003443 NP_003434 Q13105 ZBT17_HUMAN zinc finger and BTB domain containing 17 633 C2H2-type 12. negative regulation of cell cycle nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Colorectal(325;0.000257)|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;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649) GCACGGTCTTCACGTGGGAGC 0.592 NaN 0 0 0 0.013726 0 32 29 ZBTB17 7709 broad.mit.edu 37 1 16269661 16269661 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:16269661G>A uc001axl.3 - 13 1965 c.1726C>T c.(1726-1728)CAT>TAT p.H576Y ZBTB17_uc010obq.1_Missense_Mutation_p.H493Y|ZBTB17_uc010obr.1_Missense_Mutation_p.H576Y|ZBTB17_uc010obs.1_Missense_Mutation_p.H500Y NM_003443 NP_003434 Q13105 ZBT17_HUMAN zinc finger and BTB domain containing 17 576 C2H2-type 10. negative regulation of cell cycle nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Colorectal(325;0.000257)|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;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649) TGGCGAATATGATTGGCCAAC 0.587 NaN 0 0 0 0.012213 0 29 128 CROCC 9696 broad.mit.edu 37 1 17257888 17257888 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:17257888G>A uc001azt.2 + 8 1021 c.952G>A c.(952-954)GAG>AAG p.E318K CROCC_uc009voy.1_Intron|CROCC_uc009voz.1_Missense_Mutation_p.E81K NM_014675 NP_055490 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil 318 Potential. cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity ovary(2)|breast(2)|central_nervous_system(1) 5 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) GATGTTCACTGAGAGGTGAGG 0.587 NaN 0 0 0 0.01441 0 79 60 PADI2 11240 broad.mit.edu 37 1 17409048 17409048 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:17409048C>T uc001baf.2 - 10 1232 c.1150G>A c.(1150-1152)GAG>AAG p.E384K PADI2_uc010ocm.1_Missense_Mutation_p.E268K|PADI2_uc001bag.1_Missense_Mutation_p.E384K NM_007365 NP_031391 Q9Y2J8 PADI2_HUMAN peptidyl arginine deiminase, type II 384 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity ovary(3)|pancreas(1)|central_nervous_system(1)|skin(1) 6 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) L-Citrulline(DB00155) ACCAGGAGCTCCTTCACAGGG 0.483 NaN 0 0 0 0.012319 0 21 60 IGSF21 84966 broad.mit.edu 37 1 18661457 18661457 + Missense_Mutation SNP G G T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:18661457G>T uc001bau.1 + 4 760 c.377G>T c.(376-378)AGG>ATG p.R126M NM_032880 NP_116269 Q96ID5 IGS21_HUMAN immunoglobin superfamily, member 21 precursor 126 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) CGCGCCACCAGGGAGAAGGTG 0.617 NaN 1 0 7.48243e-07 0.006214 7.68791e-07 9 22 TAS1R2 80834 broad.mit.edu 37 1 19186032 19186032 + Silent SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:19186032G>C uc001bba.1 - 1 124 c.123C>G c.(121-123)CTC>CTG p.L41L NM_152232 NP_689418 Q8TE23 TS1R2_HUMAN taste receptor, type 1, member 2 precursor 41 Extracellular (Potential). detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) TGTTGGCATGGAGGGAGAAGA 0.582 NaN 0 0 0 0.007835 0 43 45 UBR4 23352 broad.mit.edu 37 1 19510379 19510379 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:19510379C>T uc001bbi.2 - 17 2114 c.2110G>A c.(2110-2112)GAA>AAA p.E704K NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN retinoblastoma-associated factor 600 704 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2) 25 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) GCAAACTCTTCATCTGATGAA 0.443 NaN 0 0 0 0.003163 0 15 41 KIAA0090 23065 broad.mit.edu 37 1 19559255 19559255 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:19559255C>G uc001bbo.2 - 15 1688 c.1645G>C c.(1645-1647)GAG>CAG p.E549Q KIAA0090_uc001bbp.2_Missense_Mutation_p.E548Q|KIAA0090_uc001bbq.2_Missense_Mutation_p.E548Q|KIAA0090_uc001bbr.2_Missense_Mutation_p.E527Q NM_015047 NP_055862 Q8N766 K0090_HUMAN hypothetical protein LOC23065 precursor 549 Extracellular (Potential). integral to membrane protein binding ovary(1) 1 Colorectal(325;0.000147)|Renal(390;0.000469)|Breast(348;0.00366)|all_lung(284;0.00519)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707) UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.84e-05)|Kidney(64;0.000191)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|GBM - Glioblastoma multiforme(114;0.005)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656) GAGCTGCTCTCAATGCCAAAA 0.438 NaN 0 0 0 0.00623 0 38 131 EIF4G3 8672 broad.mit.edu 37 1 21167472 21167472 + Missense_Mutation SNP A A G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:21167472A>G uc001bec.2 - 25 4026 c.3770T>C c.(3769-3771)GTT>GCT p.V1257A EIF4G3_uc010odi.1_Missense_Mutation_p.V861A|EIF4G3_uc010odj.1_Missense_Mutation_p.V1256A|EIF4G3_uc009vpz.2_Missense_Mutation_p.V977A|EIF4G3_uc001bed.2_Missense_Mutation_p.V1257A|EIF4G3_uc001bef.2_Missense_Mutation_p.V1293A|EIF4G3_uc001bee.2_Missense_Mutation_p.V1263A NM_003760 NP_003751 O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 1257 MI. interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|RNA cap binding|translation initiation factor activity skin(1) 1 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) TCTCACAAAAACATGTAGTAG 0.478 NaN 0 0 0 0.007291 0 29 70 HSPG2 3339 broad.mit.edu 37 1 22173050 22173050 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:22173050G>A uc001bfj.2 - 63 8247 c.8207C>T c.(8206-8208)TCA>TTA p.S2736L HSPG2_uc009vqd.2_Missense_Mutation_p.S2737L NM_005529 NP_005520 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 precursor 2736 Ig-like C2-type 13. 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) GGCCACGTGTGAGGAGGATGA 0.622 NaN 0 0 0 0.006122 0 18 67 HSPG2 3339 broad.mit.edu 37 1 22173059 22173059 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:22173059G>A uc001bfj.2 - 63 8238 c.8198C>T c.(8197-8199)TCA>TTA p.S2733L HSPG2_uc009vqd.2_Missense_Mutation_p.S2734L NM_005529 NP_005520 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 precursor 2733 Ig-like C2-type 13. 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) TGAGGAGGATGACTCAATTCT 0.627 NaN 0 0 0 0.004007 0 15 60 HSPG2 3339 broad.mit.edu 37 1 22178312 22178312 + Silent SNP A A T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:22178312A>T uc001bfj.2 - 54 7018 c.6978T>A c.(6976-6978)ACT>ACA p.T2326T HSPG2_uc009vqd.2_Silent_p.T2327T NM_005529 NP_005520 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 precursor 2326 Ig-like C2-type 8. 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) CCTGGGTCCCAGTTACTGTGA 0.637 NaN 0 0 0 0.013537 0 12 37 C1orf213 148898 broad.mit.edu 37 1 23696057 23696057 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:23696057G>A uc001bgw.2 + 1 594 c.267G>A c.(265-267)CTG>CTA p.L89L ZNF436_uc001bgt.2_5'Flank|ZNF436_uc001bgu.2_5'UTR|C1orf213_uc001bgv.2_Intron NM_138479 NP_612488 hypothetical protein LOC148898 isoform 1 0 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.97e-26)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;5.23e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184) ATCGTAGGCTGATCCTAAAGA 0.562 NaN 0 0 0 0.001168 0 5 30 MYOM3 127294 broad.mit.edu 37 1 24406673 24406673 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:24406673C>T uc001bin.3 - 20 2582 c.2419G>A c.(2419-2421)GAT>AAT p.D807N MYOM3_uc001bim.3_Missense_Mutation_p.D464N|MYOM3_uc001bio.2_Missense_Mutation_p.D807N NM_152372 NP_689585 Q5VTT5 MYOM3_HUMAN myomesin family, member 3 807 Fibronectin type-III 5. skin(2)|ovary(1) 3 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) GCCCGTACATCGTACGGGGGG 0.453 NaN 0 0 0 0.00499 0 15 33 NIPAL3 57185 broad.mit.edu 37 1 24768670 24768670 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:24768670C>T uc001bjh.2 + 4 695 c.288C>T c.(286-288)TTC>TTT p.F96F NIPAL3_uc010oek.1_Silent_p.F96F|NIPAL3_uc001bjg.2_Silent_p.F96F|NIPAL3_uc009vrc.2_Silent_p.F14F NM_020448 NP_065181 Q6P499 NPAL3_HUMAN NIPA-like domain containing 3 96 Helical; (Potential). integral to membrane 0 CCTACGCCTTCGCGCCGCTGT 0.632 NaN 0 0 0 0.010504 0 19 75 PAQR7 164091 broad.mit.edu 37 1 26190213 26190213 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:26190213G>A uc001bkx.2 - 2 785 c.118C>T c.(118-120)CCG>TCG p.P40S NM_178422 NP_848509 Q86WK9 MPRA_HUMAN progestin and adipoQ receptor family member VII 40 Cytoplasmic (Potential). cell differentiation|multicellular organismal development|oogenesis integral to membrane|plasma membrane receptor activity|steroid binding breast(3) 3 Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649) CAGAAGAGCGGCGGCACCTCA 0.622 NaN 0 0 0 0.00499 0 15 28 CNKSR1 10256 broad.mit.edu 37 1 26509694 26509694 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:26509694G>A uc001bln.3 + 7 689 c.631G>A c.(631-633)GAA>AAA p.E211K CNKSR1_uc010oex.1_RNA|CNKSR1_uc001blm.3_Missense_Mutation_p.E211K|CNKSR1_uc009vsd.2_5'UTR|CNKSR1_uc009vse.2_5'UTR|CNKSR1_uc001blo.2_5'UTR NM_006314 NP_006305 Q969H4 CNKR1_HUMAN connector enhancer of kinase suppressor of Ras 211 PDZ. Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway cell cortex|cell-cell junction protein binding, bridging lung(1)|kidney(1) 2 Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649) GCAGGGCCTAGAAATTCACAC 0.627 NaN 0 0 0 0.01441 0 105 117 PIGV 55650 broad.mit.edu 37 1 27121287 27121287 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:27121287C>T uc001bmz.2 + 3 1093 c.762C>T c.(760-762)CTC>CTT p.L254L PIGV_uc001bmy.2_Intron|PIGV_uc009vso.2_Silent_p.L254L|PIGV_uc010ofg.1_Intron|PIGV_uc001bna.2_Silent_p.L254L NM_017837 NP_060307 Q9NUD9 PIGV_HUMAN phosphatidylinositol glycan class V 254 Helical; (Potential). C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane glycolipid mannosyltransferase activity ovary(1) 1 all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227) CCTTTGCCCTCTTTCAGTATT 0.502 NaN 0 0 0 0.01441 0 46 130 PIGV 55650 broad.mit.edu 37 1 27124267 27124267 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:27124267C>T uc001bmz.2 + 4 1745 c.1414C>T c.(1414-1416)CTA>TTA p.L472L PIGV_uc001bmy.2_Silent_p.L237L|PIGV_uc009vso.2_Missense_Mutation_p.S465F|PIGV_uc010ofg.1_Silent_p.L237L|PIGV_uc001bna.2_Silent_p.L472L NM_017837 NP_060307 Q9NUD9 PIGV_HUMAN phosphatidylinositol glycan class V 472 Helical; (Potential). C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane glycolipid mannosyltransferase activity ovary(1) 1 all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227) ACGATACATTCTAGGCTACTT 0.502 NaN 0 0 0 0.012319 0 19 62 FCN3 8547 broad.mit.edu 37 1 27700864 27700864 + Missense_Mutation SNP C C A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:27700864C>A uc001boa.2 - 2 176 c.170G>T c.(169-171)GGA>GTA p.G57V FCN3_uc001bob.2_Missense_Mutation_p.G57V NM_003665 NP_003656 O75636 FCN3_HUMAN ficolin 3 isoform 1 precursor 57 Collagen-like. complement activation, lectin pathway|signal transduction collagen|extracellular space receptor binding|sugar binding 0 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;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) ACCTGGGGCTCCCTTCTCCCC 0.612 NaN 1 0 0.00010058 0.013537 0.000102565 11 29 AHDC1 27245 broad.mit.edu 37 1 27875316 27875316 + Missense_Mutation SNP C C A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:27875316C>A uc009vsy.2 - 6 4280 c.3311G>T c.(3310-3312)GGG>GTG p.G1104V AHDC1_uc009vsz.1_Missense_Mutation_p.G1104V NM_001029882 NP_001025053 Q5TGY3 AHDC1_HUMAN AT hook, DNA binding motif, containing 1 1104 DNA binding central_nervous_system(1) 1 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291) CTGAGAAGCCCCCGCAAACTG 0.567 NaN 1 0 3.86212e-05 0.008291 3.94205e-05 10 49 FGR 2268 broad.mit.edu 37 1 27939500 27939500 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:27939500G>C uc001boj.2 - 11 1661 c.1515C>G c.(1513-1515)TTC>TTG p.F505L FGR_uc001boi.2_Missense_Mutation_p.F208L|FGR_uc001bok.2_Missense_Mutation_p.F505L|FGR_uc001bol.2_Missense_Mutation_p.F505L|FGR_uc001bom.2_Missense_Mutation_p.F505L NM_005248 NP_005239 P09769 FGR_HUMAN proto-oncogene tyrosine-protein kinase FGR 505 Protein kinase. platelet activation|response to virus cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity skin(2) 2 all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) GCAGGTACTCGAAGGTAGGCC 0.622 NaN 0 0 0 0.004482 0 8 36 FGR 2268 broad.mit.edu 37 1 27950343 27950343 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:27950343C>T uc001boj.2 - 1 231 c.85G>A c.(85-87)GGG>AGG p.G29R FGR_uc001bok.2_Missense_Mutation_p.G29R|FGR_uc001bol.2_Missense_Mutation_p.G29R|FGR_uc001bom.2_Missense_Mutation_p.G29R NM_005248 NP_005239 P09769 FGR_HUMAN proto-oncogene tyrosine-protein kinase FGR 29 platelet activation|response to virus cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity skin(2) 2 all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) TCTGCTGCCCCGTAGCTTCTG 0.587 NaN 0 0 0 0.010729 0 12 26 FGR 2268 broad.mit.edu 37 1 27950351 27950351 + Missense_Mutation SNP C C A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:27950351C>A uc001boj.2 - 1 223 c.77G>T c.(76-78)AGA>ATA p.R26I FGR_uc001bok.2_Missense_Mutation_p.R26I|FGR_uc001bol.2_Missense_Mutation_p.R26I|FGR_uc001bom.2_Missense_Mutation_p.R26I NM_005248 NP_005239 P09769 FGR_HUMAN proto-oncogene tyrosine-protein kinase FGR 26 platelet activation|response to virus cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity skin(2) 2 all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) CCCGTAGCTTCTGAAGTCCCC 0.587 NaN 1 0 4.3838e-07 0.001855 4.5106e-07 13 25 C1orf38 9473 broad.mit.edu 37 1 28206495 28206495 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:28206495C>T uc001bpc.3 + 3 604 c.576C>T c.(574-576)CTC>CTT p.L192L C1orf38_uc001boz.2_Silent_p.L192L|C1orf38_uc001bpa.2_Intron|C1orf38_uc010ofn.1_Intron|C1orf38_uc010ofo.1_Silent_p.L192L NM_001105556 NP_001099026 Q5TEJ8 THMS2_HUMAN basement membrane-induced gene isoform 3 192 CABIT 1. cell adhesion|inflammatory response ovary(1) 1 Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;2.52e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649) ACCTCGTCCTCACCTGCCCCA 0.617 NaN 0 0 0 0.009096 0 4 8 RAB42 115273 broad.mit.edu 37 1 28920495 28920495 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:28920495G>A uc001bqu.2 + 2 490 c.184G>A c.(184-186)GAT>AAT p.D62N RAB42_uc001bqv.2_Missense_Mutation_p.D62N NM_152304 NP_689517 Q8N4Z0 RAB42_HUMAN RAB42, member RAS oncogene family 62 small GTPase mediated signal transduction membrane GTP binding 0 Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00618)|all_lung(284;0.00909)|Breast(348;0.0249)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0577)|Ovarian(437;0.127)|Medulloblastoma(700;0.151) Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00298)|KIRC - Kidney renal clear cell carcinoma(1967;0.00948)|BRCA - Breast invasive adenocarcinoma(304;0.0213)|READ - Rectum adenocarcinoma(331;0.0649) CACCCTCGCTGATGCTATCCA 0.617 NaN 0 0 0 0.014323 0 23 11 SPOCD1 90853 broad.mit.edu 37 1 32279666 32279666 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:32279666C>G uc001bts.1 - 2 1327 c.1269G>C c.(1267-1269)AAG>AAC p.K423N SPOCD1_uc001btu.2_Missense_Mutation_p.K423N|SPOCD1_uc001btv.2_Intron NM_144569 NP_653170 Q6ZMY3 SPOC1_HUMAN SPOC domain containing 1 423 transcription, DNA-dependent ovary(5)|breast(1) 6 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199) STAD - Stomach adenocarcinoma(196;0.18) TCTTCAGGTTCTTAGTGCCCT 0.622 NaN 0 0 0 0.010818 0 30 37 CCDC28B 79140 broad.mit.edu 37 1 32670814 32670814 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:32670814G>A uc001bul.1 + 6 700 c.568G>A c.(568-570)GAG>AAG p.E190K CCDC28B_uc001buk.2_3'UTR|IQCC_uc001bum.2_5'Flank|IQCC_uc009vua.2_5'Flank|IQCC_uc010ogz.1_5'Flank NM_024296 NP_077272 Q9BUN5 CC28B_HUMAN coiled-coil domain containing 28B 190 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) GCACCTGGCCGAGAACGCCGA 0.607 NaN 0 0 0 0.009096 0 4 16 YARS 8565 broad.mit.edu 37 1 33245125 33245125 + Splice_Site SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:33245125C>T uc001bvy.1 - 12 2123 c.1335_splice c.e12-1 p.I445_splice YARS_uc001bvw.1_Splice_Site_p.I105_splice|YARS_uc001bvx.1_Splice_Site_p.I96_splice NM_003680 NP_003671 P54577 SYYC_HUMAN tyrosyl-tRNA synthetase apoptosis|tyrosyl-tRNA aminoacylation cytosol|extracellular space|nucleus|soluble fraction ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity skin(2) 2 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) L-Tyrosine(DB00135) TATCCCTTCTCTGGGAAGACA 0.562 NaN 0 0 0 0.007413 0 20 47 YARS 8565 broad.mit.edu 37 1 33252626 33252626 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:33252626C>T uc001bvy.1 - 7 1523 c.735G>A c.(733-735)CTG>CTA p.L245L NM_003680 NP_003671 P54577 SYYC_HUMAN tyrosyl-tRNA synthetase 245 apoptosis|tyrosyl-tRNA aminoacylation cytosol|extracellular space|nucleus|soluble fraction ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity skin(2) 2 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) L-Tyrosine(DB00135) AGGCCTTCTTCAGTTTTTTCT 0.443 NaN 0 0 0 0.01441 0 57 45 ZMYM6 9204 broad.mit.edu 37 1 35476590 35476590 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:35476590C>T uc001byh.2 - 9 1338 c.1110G>A c.(1108-1110)CTG>CTA p.L370L ZMYM6_uc001byf.1_Silent_p.L370L|ZMYM6_uc010oht.1_Silent_p.L273L|ZMYM6_uc009vup.2_Silent_p.L176L|ZMYM6_uc009vuq.1_Silent_p.L370L|ZMYM6_uc009vur.1_Silent_p.L176L NM_007167 NP_009098 O95789 ZMYM6_HUMAN zinc finger protein 258 370 MYM-type 5. multicellular organismal development nucleus DNA binding|zinc ion binding ovary(3) 3 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13) GGCCCTGAGACAGGGGCACCG 0.478 NaN 0 0 0 0.008871 0 17 51 ZMYM1 79830 broad.mit.edu 37 1 35575944 35575944 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:35575944C>T uc001bym.2 + 8 1005 c.857C>T c.(856-858)TCA>TTA p.S286L ZMYM1_uc001byn.2_Missense_Mutation_p.S286L|ZMYM1_uc010ohu.1_Missense_Mutation_p.S286L|ZMYM1_uc001byo.2_5'UTR|ZMYM1_uc009vut.2_Missense_Mutation_p.S211L NM_024772 NP_079048 Q5SVZ6 ZMYM1_HUMAN zinc finger, MYM domain containing 1 286 nucleus nucleic acid binding|protein dimerization activity|zinc ion binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) TTGAAGCCCTCAGATGAAATG 0.353 NaN 0 0 0 0.012213 0 34 118 KIAA0319L 79932 broad.mit.edu 37 1 35972601 35972601 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:35972601G>C uc001byx.2 - 3 536 c.278C>G c.(277-279)TCT>TGT p.S93C KIAA0319L_uc010ohw.1_RNA|KIAA0319L_uc001byz.2_Missense_Mutation_p.S93C|KIAA0319L_uc010ohx.1_Missense_Mutation_p.S93C NM_024874 NP_079150 Q8IZA0 K319L_HUMAN dyslexia susceptibility 2-like 93 MANSC.|Extracellular (Potential). cytoplasmic vesicle part|integral to membrane protein binding skin(2) 2 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) ATGGCAGGCAGAGTCCTGGCA 0.562 NaN 0 0 0 0.010729 0 7 29 C1orf216 127703 broad.mit.edu 37 1 36181317 36181317 + Silent SNP G G A rs11554216 TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:36181317G>A uc001bzh.1 - 2 1094 c.606C>T c.(604-606)TTC>TTT p.F202F NM_152374 NP_689587 Q8TAB5 CA216_HUMAN hypothetical protein LOC127703 202 skin(1) 1 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196) GGATGGTGTCGAAGCTCTCCT 0.607 NaN OREG0013357 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.012213 0 31 90 MAP7D1 55700 broad.mit.edu 37 1 36643602 36643602 + Missense_Mutation SNP C C A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:36643602C>A uc001bzz.2 + 9 1724 c.1508C>A c.(1507-1509)TCC>TAC p.S503Y MAP7D1_uc001caa.2_Missense_Mutation_p.S471Y|MAP7D1_uc001cab.2_Missense_Mutation_p.S466Y|MAP7D1_uc001cac.2_Missense_Mutation_p.S203Y|MAP7D1_uc001cad.2_Missense_Mutation_p.S49Y NM_018067 NP_060537 Q3KQU3 MA7D1_HUMAN MAP7 domain containing 1 503 Pro-rich. cytoplasm|spindle ovary(3)|breast(2) 5 Myeloproliferative disorder(586;0.0393) ACCACTGCATCCCCCAAGGGG 0.701 NaN 1 0 0.00116845 0.001168 0.00118816 5 22 RHBDL2 54933 broad.mit.edu 37 1 39352269 39352269 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:39352269C>T uc001ccu.1 - 8 1047 c.819G>A c.(817-819)CTG>CTA p.L273L RHBDL2_uc010oin.1_3'UTR|RHBDL2_uc010oio.1_Silent_p.L353L NM_017821 NP_060291 Q9NX52 RHBL2_HUMAN rhomboid protease 2 273 proteolysis integral to membrane|plasma membrane serine-type endopeptidase activity 0 Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;8.23e-17) TTGGATCTTTCAGCAGTGCTT 0.433 NaN 0 0 0 0.00632 0 28 94 MACF1 23499 broad.mit.edu 37 1 39757669 39757669 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:39757669G>A uc010ois.1 + 17 2093 c.1888G>A c.(1888-1890)GAA>AAA p.E630K MACF1_uc001cda.1_Missense_Mutation_p.E538K NM_012090 NP_036222 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 630 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) TACGAGTGTAGAAGAGCTGGG 0.507 NaN 0 0 0 0.003954 0 27 30 MACF1 23499 broad.mit.edu 37 1 39919397 39919397 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:39919397G>C uc010oiu.1 + 53 16221 c.16090G>C c.(16090-16092)GAA>CAA p.E5364Q MACF1_uc010ois.1_Missense_Mutation_p.E4862Q NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GAAGAAAGTAGAAGAAAAGCG 0.413 NaN 0 0 0 0.01441 0 92 84 MACF1 23499 broad.mit.edu 37 1 39950348 39950348 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:39950348G>A uc010oiu.1 + 63 17637 c.17506G>A c.(17506-17508)GAT>AAT p.D5836N MACF1_uc010ois.1_Missense_Mutation_p.D5328N|MACF1_uc001cde.1_Missense_Mutation_p.D242N|MACF1_uc001cdf.1_Missense_Mutation_p.D211N|MACF1_uc001cdg.2_Missense_Mutation_p.D156N|MACF1_uc001cdh.2_Missense_Mutation_p.D119N NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 7286 Ser-rich.|C-terminal tail (By similarity). cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CCTTGCTGGTGATACCAGCAA 0.458 NaN 0 0 0 0.007835 0 39 145 PABPC4 8761 broad.mit.edu 37 1 40041525 40041525 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:40041525G>A uc010oiv.1 - 1 997 c.99C>T c.(97-99)CCC>CCT p.P33P PABPC4_uc001cdl.2_Silent_p.P33P|PABPC4_uc001cdm.2_Silent_p.P33P NM_003819 NP_003810 Q13310 PABP4_HUMAN poly A binding protein, cytoplasmic 4 isoform 2 33 RRM 1. blood coagulation|RNA catabolic process|RNA processing|translation cytoplasm|ribonucleoprotein complex nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding 0 Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) CAGGCCCCGCGGGGCTGAACT 0.647 NaN 0 0 0 0.001984 0 6 17 ZNF643 65243 broad.mit.edu 37 1 40929203 40929203 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:40929203C>T uc001cfn.1 + 5 1844 c.1547C>T c.(1546-1548)TCA>TTA p.S516L ZNF643_uc001cfl.1_Missense_Mutation_p.S414L|ZNF643_uc001cfm.1_Missense_Mutation_p.S382L NM_023070 NP_075558 Q9UJL9 ZN643_HUMAN zinc finger protein 643 516 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;5.25e-18) AGCTGTAGTTCATCCCTTATT 0.353 NaN 0 0 0 0.010504 0 20 73 KCNQ4 9132 broad.mit.edu 37 1 41283961 41283961 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:41283961C>T uc001cgh.1 + 3 613 c.531C>T c.(529-531)ATC>ATT p.I177I KCNQ4_uc001cgi.1_Silent_p.I177I NM_004700 NP_004691 P56696 KCNQ4_HUMAN potassium voltage-gated channel KQT-like protein 177 Helical; Name=Segment S3; (Potential). sensory perception of sound basal plasma membrane|voltage-gated potassium channel complex central_nervous_system(1) 1 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.38e-17) TCTGTGTCATCGGTAATGAGG 0.647 NaN 0 0 0 0.003755 0 35 41 EDN2 1907 broad.mit.edu 37 1 41949827 41949827 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:41949827G>A uc001cgx.2 - 2 184 c.112C>T c.(112-114)CAT>TAT p.H38Y EDN2_uc001cgu.2_RNA|EDN2_uc001cgv.2_RNA|EDN2_uc009vwh.2_5'UTR|EDN2_uc001cgw.2_RNA|EDN2_uc009vwi.2_RNA|EDN2_uc009vwj.2_RNA NM_001956 NP_001947 P20800 EDN2_HUMAN endothelin 2 preproprotein 38 artery smooth muscle contraction|calcium-mediated signaling|cytokine-mediated signaling pathway|elevation of cytosolic calcium ion concentration|hormonal regulation of the force of heart contraction|inositol phosphate-mediated signaling|macrophage activation|macrophage chemotaxis|neutrophil chemotaxis|positive regulation of cell proliferation|positive regulation of heart rate|positive regulation of leukocyte chemotaxis|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of the force of heart contraction by chemical signal|prostaglandin biosynthetic process|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction extracellular space endothelin B receptor binding|hormone activity 0 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CCTTGGGCATGAGATGAGGAC 0.627 NaN 0 0 0 0.013537 0 12 22 FOXJ3 22887 broad.mit.edu 37 1 42647606 42647606 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:42647606G>C uc001che.2 - 14 2047 c.1735C>G c.(1735-1737)CCA>GCA p.P579A FOXJ3_uc001chf.2_Missense_Mutation_p.P579A|FOXJ3_uc001chg.2_Missense_Mutation_p.P579A NM_014947 NP_055762 Q9UPW0 FOXJ3_HUMAN forkhead box J3 579 embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding ovary(2) 2 Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GTTGTTCCTGGAGTGCTGAGT 0.403 NaN 0 0 0 0.001984 0 7 25 FOXJ3 22887 broad.mit.edu 37 1 42671497 42671497 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:42671497C>T uc001che.2 - 8 878 c.566G>A c.(565-567)GGA>GAA p.G189E FOXJ3_uc001chf.2_Missense_Mutation_p.G189E|FOXJ3_uc001chg.2_Missense_Mutation_p.G189E|FOXJ3_uc001chh.1_Intron NM_014947 NP_055762 Q9UPW0 FOXJ3_HUMAN forkhead box J3 189 embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding ovary(2) 2 Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) ACACTCCATTCCCAAAGAATC 0.318 NaN 0 0 0 0.004289 0 33 38 ZMYND12 84217 broad.mit.edu 37 1 42921666 42921666 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:42921666C>T uc001chj.2 - 1 273 c.3G>A c.(1-3)ATG>ATA p.M1I ZMYND12_uc010ojt.1_5'UTR|PPCS_uc001chk.2_5'Flank|PPCS_uc001chl.2_5'Flank NM_032257 NP_115633 Q9H0C1 ZMY12_HUMAN zinc finger, MYND-type containing 12 isoform 1 1 intracellular zinc ion binding ovary(1) 1 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) AGATCACATTCATGGTGCAGC 0.637 NaN 0 0 0 0.009096 0 4 16 LEPRE1 64175 broad.mit.edu 37 1 43213045 43213045 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:43213045G>A uc001chv.2 - 14 2066 c.1953C>T c.(1951-1953)TTC>TTT p.F651F LEPRE1_uc001chw.2_Silent_p.F651F|LEPRE1_uc001chx.3_Silent_p.F651F NM_022356 NP_071751 Q32P28 P3H1_HUMAN leprecan 1 isoform 1 651 Fe2OG dioxygenase. negative regulation of cell proliferation endoplasmic reticulum|proteinaceous extracellular matrix iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity ovary(3)|lung(1) 4 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) TGCCTGAAGAGAATCCCACGG 0.592 NaN OREG0013422 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.007413 0 20 50 PTPRF 5792 broad.mit.edu 37 1 44019601 44019601 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:44019601C>T uc001cjr.2 + 5 708 c.368C>T c.(367-369)TCA>TTA p.S123L PTPRF_uc001cjq.3_Missense_Mutation_p.S123L|PTPRF_uc001cjs.2_Missense_Mutation_p.S123L|PTPRF_uc001cjt.3_Missense_Mutation_p.S123L NM_002840 NP_002831 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 123 Extracellular (Potential).|Ig-like C2-type 1. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity p.G123E(1) ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1) 10 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GCCAAGCTCTCAGTGCTCGAA 0.602 NaN 0 0 0 0.013537 0 12 19 SLC6A9 6536 broad.mit.edu 37 1 44477385 44477385 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:44477385G>A uc001cll.2 - 2 289 c.97C>T c.(97-99)CTC>TTC p.L33F SLC6A9_uc009vxe.2_Intron|SLC6A9_uc010okm.1_Intron|SLC6A9_uc001clm.2_Intron|SLC6A9_uc009vxd.2_Intron|SLC6A9_uc010okn.1_Intron|SLC6A9_uc001cln.2_Intron|SLC6A9_uc010oko.1_Intron|SLC6A9_uc010okp.1_Intron NM_201649 NP_964012 P48067 SC6A9_HUMAN solute carrier family 6 member 9 isoform 2 33 Cytoplasmic (Potential). integral to plasma membrane|membrane fraction glycine:sodium symporter activity|neurotransmitter:sodium symporter activity 0 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) Glycine(DB00145) TGAACAGGGAGAAGCGTCACC 0.602 NaN 0 0 0 0.00245 0 14 48 BEST4 266675 broad.mit.edu 37 1 45251772 45251772 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:45251772C>T uc001cmm.2 - 4 659 c.610G>A c.(610-612)GAT>AAT p.D204N NM_153274 NP_695006 Q8NFU0 BEST4_HUMAN bestrophin 4 204 Extracellular (Potential). chloride channel complex|plasma membrane chloride channel activity ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) AGAGCGATATCGTCACGTATT 0.502 NaN OREG0013447 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.01441 0 72 89 PLK3 1263 broad.mit.edu 37 1 45266717 45266717 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:45266717G>A uc001cmn.2 + 3 428 c.328G>A c.(328-330)GAG>AAG p.E110K PLK3_uc001cmo.2_RNA NM_004073 NP_004064 Q9H4B4 PLK3_HUMAN polo-like kinase 3 110 Protein kinase. membrane ATP binding|protein binding|protein serine/threonine kinase activity 0 Acute lymphoblastic leukemia(166;0.155) GATCCTAAATGAGATTGAGCT 0.587 NaN 0 0 0 0.006214 0 10 15 NASP 4678 broad.mit.edu 37 1 46073665 46073665 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:46073665C>T uc001coi.1 + 6 1184 c.1082C>T c.(1081-1083)TCA>TTA p.S361L NASP_uc010olq.1_Missense_Mutation_p.S324L|NASP_uc001coh.1_Missense_Mutation_p.S363L|NASP_uc001coj.1_Intron|NASP_uc010olr.1_Missense_Mutation_p.S297L|NASP_uc001cok.1_Missense_Mutation_p.S244L NM_002482 NP_002473 P49321 NASP_HUMAN nuclear autoantigenic sperm protein isoform 2 361 Glu-rich (acidic). blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport cytoplasm|nucleus Hsp90 protein binding ovary(1) 1 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211) GAGGCTGGATCAGAAGTCTCT 0.527 NaN 0 0 0 0.008291 0 7 80 IPP 3652 broad.mit.edu 37 1 46211827 46211827 + Missense_Mutation SNP C C A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:46211827C>A uc001cou.2 - 2 524 c.257G>T c.(256-258)GGA>GTA p.G86V IPP_uc001cos.3_Missense_Mutation_p.G86V NM_005897 NP_005888 Q9Y573 IPP_HUMAN intracisternal A particle-promoted polypeptide 86 BTB. actin cytoskeleton|cytoplasm actin binding ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) CTGAAAGATTCCTGCTTCAAT 0.358 NaN 1 0 5.03518e-11 0.007413 5.25558e-11 19 55 MKNK1 8569 broad.mit.edu 37 1 47024307 47024307 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:47024307C>T uc001cqb.2 - 14 1582 c.1338G>A c.(1336-1338)CGG>CGA p.R446R MKNK1_uc010omd.1_Silent_p.R310R|MKNK1_uc001cqc.2_Silent_p.R405R|MKNK1_uc009vyi.2_3'UTR|MKNK1_uc010ome.1_3'UTR NM_003684 NP_003675 Q9BUB5 MKNK1_HUMAN MAP kinase-interacting serine/threonine kinase 1 446 intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity lung(2) 2 Acute lymphoblastic leukemia(166;0.155) GGGCCCGTCTCCGGGCCAGGC 0.627 NaN 0 0 0 0.00333 0 23 27 CYP4Z1 199974 broad.mit.edu 37 1 47564903 47564903 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:47564903G>A uc001cqu.1 + 8 1017 c.1014G>A c.(1012-1014)CAG>CAA p.Q338Q NM_178134 NP_835235 Q86W10 CP4Z1_HUMAN cytochrome P450 4Z1 338 Lumenal (Potential). endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding skin(1) 1 AGCATCAGCAGAGATGCCGAG 0.453 NaN 0 0 0 0.00333 0 24 60 NRD1 4898 broad.mit.edu 37 1 52344197 52344197 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:52344197C>T uc001ctc.3 - 1 413 c.91G>A c.(91-93)GAA>AAA p.E31K NRD1_uc001ctd.3_Missense_Mutation_p.E31K|NRD1_uc001cte.2_5'Flank|NRD1_uc001ctf.2_Missense_Mutation_p.E31K|NRD1_uc010ong.1_Intron|NRD1_uc009vzc.1_5'Flank NM_002525 NP_002516 O43847 NRDC_HUMAN nardilysin isoform a 31 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 CCCCGCGTTTCGATTCCCCAG 0.612 NaN 0 0 0 0.001168 0 6 23 ZFYVE9 9372 broad.mit.edu 37 1 52805846 52805846 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:52805846G>A uc001cto.2 + 17 4054 c.3882G>A c.(3880-3882)GTG>GTA p.V1294V ZFYVE9_uc001ctp.2_Silent_p.V1235V NM_004799 NP_004790 O95405 ZFYV9_HUMAN zinc finger, FYVE domain containing 9 isoform 3 1294 endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway early endosome membrane metal ion binding|protein binding|receptor activity|serine-type peptidase activity ovary(2)|lung(2)|central_nervous_system(2)|skin(2) 8 TAACAAATGTGAAGATATTCC 0.383 NaN 0 0 0 0.007413 0 19 71 LRRC42 115353 broad.mit.edu 37 1 54428058 54428058 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:54428058C>T uc001cwj.1 + 6 1103 c.903C>T c.(901-903)TGC>TGT p.C301C LRRC42_uc001cwl.1_Silent_p.C301C|LRRC42_uc001cwk.1_Silent_p.C301C|LRRC42_uc009vzm.1_Silent_p.C301C NM_052940 NP_443172 Q9Y546 LRC42_HUMAN leucine rich repeat containing 42 301 0 ATAGTAACTGCAAGACAGAGG 0.453 NaN 0 0 0 0.001168 0 6 24 DHCR24 1718 broad.mit.edu 37 1 55352603 55352603 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:55352603G>A uc001cyc.1 - 1 319 c.190C>T c.(190-192)CCG>TCG p.P64S DHCR24_uc010ook.1_5'Flank NM_014762 NP_055577 Q15392 DHC24_HUMAN 24-dehydrocholesterol reductase precursor 64 FAD-binding PCMH-type. anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding pancreas(1) 1 TGCAGGCGCGGAGCGCTGCTG 0.682 NaN 0 0 0 0.000602 0 5 11 DHCR24 1718 broad.mit.edu 37 1 55352654 55352654 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:55352654C>T uc001cyc.1 - 1 268 c.139G>A c.(139-141)GAT>AAT p.D47N DHCR24_uc010ook.1_5'Flank NM_014762 NP_055577 Q15392 DHC24_HUMAN 24-dehydrocholesterol reductase precursor 47 Helical; (Potential). anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding pancreas(1) 1 TAGTAGATATCGAAGATAAGC 0.632 NaN 0 0 0 0.004482 0 6 14 C8A 731 broad.mit.edu 37 1 57320598 57320598 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:57320598C>T uc001cyo.2 + 1 156 c.24C>T c.(22-24)ATC>ATT p.I8I NM_000562 NP_000553 P07357 CO8A_HUMAN complement component 8, alpha polypeptide 8 complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular space|membrane attack complex ovary(1)|central_nervous_system(1)|skin(1) 3 TTTTCTTCATCTTGTCTTTGA 0.433 NaN 0 0 0 0.00245 0 14 13 DOCK7 85440 broad.mit.edu 37 1 63113920 63113920 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:63113920C>G uc001daq.2 - 6 623 c.589G>C c.(589-591)GAC>CAC p.D197H DOCK7_uc001dan.2_Missense_Mutation_p.D89H|DOCK7_uc001dao.2_Missense_Mutation_p.D89H|DOCK7_uc001dap.2_Missense_Mutation_p.D197H|DOCK7_uc009wah.1_Missense_Mutation_p.D197H NM_033407 NP_212132 Q96N67 DOCK7_HUMAN dedicator of cytokinesis 7 197 activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding ovary(2) 2 TTTTTCAAGTCAAAGATACTA 0.363 NaN 0 0 0 0.014323 0 24 82 ITGB3BP 23421 broad.mit.edu 37 1 63920112 63920112 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:63920112G>A uc001dba.1 - 6 397 c.366C>T c.(364-366)CTC>CTT p.L122L ITGB3BP_uc001dbb.1_Silent_p.L161L|ITGB3BP_uc001dbc.1_RNA|ITGB3BP_uc001dbd.1_RNA|ITGB3BP_uc009wak.1_Silent_p.L144L|ITGB3BP_uc001dbe.1_Silent_p.L35L NM_014288 NP_055103 Q13352 CENPR_HUMAN integrin beta 3 binding protein 122 apoptosis|cell adhesion|CenH3-containing nucleosome assembly at centromere|induction of apoptosis by extracellular signals|mitotic prometaphase|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome, centromeric region|cytosol|membrane fraction|nucleoplasm protein C-terminus binding|signal transducer activity 0 AGATTCCAATGAGATTTTCAA 0.343 NaN 0 0 0 0.00245 0 15 53 ROR1 4919 broad.mit.edu 37 1 64643416 64643416 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:64643416C>T uc001dbj.2 + 9 2091 c.1692C>T c.(1690-1692)CTC>CTT p.L564L uc001dbm.2_5'Flank NM_005012 NP_005003 Q01973 ROR1_HUMAN receptor tyrosine kinase-like orphan receptor 1 564 Cytoplasmic (Potential).|Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway cytoplasm|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding ovary(6)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|central_nervous_system(1)|skin(1)|kidney(1) 19 ATGAGTTCCTCATCATGAGAT 0.483 NaN 0 0 0 0.00623 0 39 42 WDR78 79819 broad.mit.edu 37 1 67299731 67299731 + Missense_Mutation SNP T T A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:67299731T>A uc001dcx.2 - 12 1890 c.1834A>T c.(1834-1836)ATA>TTA p.I612L WDR78_uc009waw.2_Missense_Mutation_p.I358L|WDR78_uc009wax.2_RNA NM_024763 NP_079039 Q5VTH9 WDR78_HUMAN WD repeat domain 78 isoform 1 612 WD 2. ovary(2) 2 TCTGCTGATATAGAAACTAGT 0.363 NaN 0 0 0 0.00632 0 29 67 C1orf141 400757 broad.mit.edu 37 1 67559011 67559011 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:67559011C>G uc001ddl.1 - 7 991 c.880G>C c.(880-882)GAT>CAT p.D294H C1orf141_uc001ddm.1_Missense_Mutation_p.D294H|C1orf141_uc001ddn.1_RNA NM_001013674 NP_001013696 Q5JVX7 CA141_HUMAN hypothetical protein LOC400757 294 ovary(1) 1 AGTTTATCATCTACAGTTGTG 0.333 NaN 0 0 0 0.012213 0 34 118 PTGER3 5733 broad.mit.edu 37 1 71512801 71512801 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:71512801C>T uc001dfg.1 - 1 691 c.460G>A c.(460-462)GAG>AAG p.E154K PTGER3_uc001dfh.1_RNA|PTGER3_uc001dfi.1_RNA|PTGER3_uc001dfj.1_RNA|PTGER3_uc001dfk.1_Missense_Mutation_p.E154K|PTGER3_uc001dfl.1_Missense_Mutation_p.E154K|PTGER3_uc009wbm.1_Missense_Mutation_p.E154K|PTGER3_uc001dfm.1_RNA|PTGER3_uc001dfn.2_Missense_Mutation_p.E154K|PTGER3_uc009wbn.1_Missense_Mutation_p.E154K|PTGER3_uc009wbo.2_Missense_Mutation_p.E154K|PTGER3_uc001dfo.2_Missense_Mutation_p.E154K|PTGER3_uc001dfp.1_Missense_Mutation_p.E154K|PTGER3_uc001dfq.2_Missense_Mutation_p.E154K|uc001dfr.2_RNA NM_198714 NP_942007 P43115 PE2R3_HUMAN prostaglandin E receptor 3, subtype EP3 isoform 154 Cytoplasmic (Potential). cell death|positive regulation of fever generation|transcription, DNA-dependent integral to plasma membrane|nuclear envelope ligand-dependent nuclear receptor activity|prostaglandin E receptor activity pancreas(1)|lung(1)|skin(1) 3 Bimatoprost(DB00905) AGCGCCCGCTCGACGGCCATG 0.677 NaN 0 0 0 0.006214 0 9 4 ELTD1 64123 broad.mit.edu 37 1 79385973 79385973 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:79385973G>A uc001diq.3 - 10 1512 c.1356C>T c.(1354-1356)TTC>TTT p.F452F NM_022159 NP_071442 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain 452 Helical; Name=1; (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(1)|skin(1) 2 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) GAATTTCACTGAAGAACCAGA 0.323 NaN 0 0 0 0.003954 0 25 74 LPHN2 23266 broad.mit.edu 37 1 82417698 82417698 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:82417698G>C uc001dit.3 + 9 1835 c.1654G>C c.(1654-1656)GGG>CGG p.G552R LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.G552R|LPHN2_uc001div.2_Missense_Mutation_p.G552R|LPHN2_uc009wcd.2_Missense_Mutation_p.G552R|LPHN2_uc001diw.2_Missense_Mutation_p.G123R NM_012302 NP_036434 O95490 LPHN2_HUMAN latrophilin 2 precursor 552 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding ovary(3)|lung(3)|breast(2)|central_nervous_system(1) 9 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) ACATACCAAAGGGCCAGTGTT 0.398 NaN 0 0 0 0.00632 0 30 40 CLCA4 22802 broad.mit.edu 37 1 87029391 87029391 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:87029391G>C uc009wcs.2 + 4 540 c.496G>C c.(496-498)GAT>CAT p.D166H CLCA4_uc009wct.2_Intron|CLCA4_uc009wcu.2_Intron NM_012128 NP_036260 Q14CN2 CLCA4_HUMAN chloride channel accessory 4 166 apical plasma membrane|extracellular region|integral to plasma membrane chloride channel activity ovary(2) 2 Lung NSC(277;0.238) all cancers(265;0.0202)|Epithelial(280;0.0404) GGGAGTGTTTGATGAGTACAA 0.408 NaN 0 0 0 0.006122 0 17 52 GBP3 2635 broad.mit.edu 37 1 89477538 89477538 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:89477538G>A uc001dmt.2 - 7 1246 c.1041C>T c.(1039-1041)ACC>ACT p.T347T GBP3_uc010oss.1_Silent_p.T268T|GBP3_uc001dmu.2_Silent_p.T213T|GBP3_uc001dmv.2_Intron NM_018284 NP_060754 Q9H0R5 GBP3_HUMAN guanylate binding protein 3 347 integral to membrane GTP binding|GTPase activity ovary(1)|pancreas(1) 2 Lung NSC(277;0.123) all cancers(265;0.0103)|Epithelial(280;0.0293) GCTCCTGGAGGGTTTCTGCGG 0.537 NaN 0 0 0 0.000602 0 5 54 GFI1 2672 broad.mit.edu 37 1 92941706 92941706 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:92941706G>A uc001dou.3 - 7 1313 c.1149C>T c.(1147-1149)CTC>CTT p.L383L GFI1_uc001dov.3_Silent_p.L383L|GFI1_uc001dow.3_Silent_p.L383L NM_001127215 NP_001120687 Q99684 GFI1_HUMAN growth factor independent 1 383 C2H2-type 5. negative regulation of calcidiol 1-monooxygenase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1/S phase of mitotic cell cycle|transcription, DNA-dependent|viral reproduction nucleus protein binding|transcription regulatory region DNA binding|zinc ion binding large_intestine(1) 1 all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203) OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191) TGTGGGTGATGAGGTTGGAGC 0.597 NaN 0 0 0 0.00308 0 6 10 EVI5 7813 broad.mit.edu 37 1 93170239 93170239 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:93170239G>A uc001dox.2 - 3 354 c.344C>T c.(343-345)TCT>TTT p.S115F EVI5_uc010otf.1_Missense_Mutation_p.S115F NM_005665 NP_005656 O60447 EVI5_HUMAN ecotropic viral integration site 5 115 Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Ser-rich. 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) CACAAGAGAAGAGCCACTGTT 0.363 NaN 0 0 0 0.010818 0 33 96 BCAR3 8412 broad.mit.edu 37 1 94033313 94033313 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:94033313G>A uc001dpz.2 - 10 2345 c.2070C>T c.(2068-2070)CTC>CTT p.L690L BCAR3_uc001dqa.2_Silent_p.L690L|BCAR3_uc001dqb.2_Silent_p.L690L|BCAR3_uc001dpx.3_Silent_p.L366L|BCAR3_uc001dpy.2_Silent_p.L599L NM_003567 NP_003558 O75815 BCAR3_HUMAN breast cancer antiestrogen resistance 3 690 Ras-GEF. response to drug|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity|protein binding ovary(1)|lung(1)|central_nervous_system(1) 3 all_lung(203;0.00145)|Lung NSC(277;0.00662) all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166) CTTCATGCAGGAGTTTGCTGA 0.547 NaN 0 0 0 0.00333 0 26 62 BCAR3 8412 broad.mit.edu 37 1 94048275 94048275 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:94048275G>A uc001dpz.2 - 7 1544 c.1269C>T c.(1267-1269)CTC>CTT p.L423L BCAR3_uc001dqa.2_Silent_p.L423L|BCAR3_uc001dqb.2_Silent_p.L423L|BCAR3_uc001dpx.3_Silent_p.L99L|BCAR3_uc001dpy.2_Silent_p.L332L|BCAR3_uc009wdm.1_Silent_p.L99L NM_003567 NP_003558 O75815 BCAR3_HUMAN breast cancer antiestrogen resistance 3 423 response to drug|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity|protein binding ovary(1)|lung(1)|central_nervous_system(1) 3 all_lung(203;0.00145)|Lung NSC(277;0.00662) all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166) CCTCTGAGTTGAGCCAGGCAG 0.607 NaN 0 0 0 0.008871 0 20 47 GCLM 2730 broad.mit.edu 37 1 94370097 94370097 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:94370097G>A uc001dqg.1 - 2 467 c.174C>T c.(172-174)ATC>ATT p.I58I NM_002061 NP_002052 P48507 GSH0_HUMAN glutamate-cysteine ligase regulatory protein 58 glutamate metabolic process|glutathione biosynthetic process|regulation of blood vessel size|response to drug|response to oxidative stress|xenobiotic metabolic process cytosol|soluble fraction glutamate-cysteine ligase catalytic subunit binding ovary(1) 1 all_lung(203;0.000815)|Lung NSC(277;0.00363) all cancers(265;0.00566)|GBM - Glioblastoma multiforme(16;0.0203)|Epithelial(280;0.131) L-Cysteine(DB00151)|L-Glutamic Acid(DB00142) AATCTGGGTTGATTTGGGAAC 0.338 NaN 0 0 0 0.007413 0 16 79 SNX7 51375 broad.mit.edu 37 1 99157196 99157196 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:99157196G>A uc010ouc.1 + 4 632 c.580G>A c.(580-582)GAT>AAT p.D194N SNX7_uc001dsa.2_Missense_Mutation_p.D130N|SNX7_uc010oud.1_Intron NM_015976 NP_057060 Q9UNH6 SNX7_HUMAN sorting nexin 7 isoform a 130 PX. cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding|protein binding ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137) Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234) CCGAATTGCTGATCATCCAAC 0.338 NaN 0 0 0 0.013537 0 11 52 AGL 178 broad.mit.edu 37 1 100327239 100327239 + Missense_Mutation SNP C C A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:100327239C>A uc001dsi.1 + 3 663 c.263C>A c.(262-264)TCT>TAT p.S88Y AGL_uc001dsj.1_Missense_Mutation_p.S88Y|AGL_uc001dsk.1_Missense_Mutation_p.S88Y|AGL_uc001dsl.1_Missense_Mutation_p.S88Y|AGL_uc001dsm.1_Missense_Mutation_p.S72Y|AGL_uc001dsn.1_Missense_Mutation_p.S71Y NM_000642 NP_000633 P35573 GDE_HUMAN amylo-1,6-glucosidase, 88 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) CTGCAACAATCTGGTTCATTT 0.313 NaN 1 0 5.35356e-11 0.00278 5.5852e-11 23 101 PRMT6 55170 broad.mit.edu 37 1 107600219 107600219 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:107600219G>A uc010ous.1 + 1 953 c.882G>A c.(880-882)GTG>GTA p.V294V NM_018137 NP_060607 Q96LA8 ANM6_HUMAN protein arginine methyltransferase 6 294 base-excision repair|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone binding|histone methyltransferase activity (H2A-R3 specific)|histone methyltransferase activity (H3-R2 specific)|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity 0 all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185) Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242) GGTTCCAGGTGACCTTCCCTG 0.652 NaN 0 0 0 0.008871 0 20 10 FAM102B 284611 broad.mit.edu 37 1 109171130 109171130 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:109171130G>A uc010ouy.1 + 8 846 c.766G>A c.(766-768)GAA>AAA p.E256K NM_001010883 NP_001010883 Q5T8I3 F102B_HUMAN hypothetical protein LOC284611 256 large_intestine(1) 1 all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508) Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182) GCCATGTGATGAAATTGAGCA 0.408 NaN 0 0 0 0.010818 0 30 83 SARS 6301 broad.mit.edu 37 1 109756738 109756738 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:109756738G>C uc001dwu.1 + 1 199 c.124G>C c.(124-126)GAG>CAG p.E42Q SARS_uc001dwt.1_Missense_Mutation_p.E42Q|SARS_uc001dwv.1_Missense_Mutation_p.E42Q|SARS_uc001dww.1_5'UTR|SARS_uc001dwx.1_Missense_Mutation_p.E42Q|SARS_uc009wfa.1_Missense_Mutation_p.E42Q|SARS_uc001dwy.1_5'UTR NM_006513 NP_006504 P49591 SYSC_HUMAN seryl-tRNA synthetase 42 seryl-tRNA aminoacylation|tRNA processing cytosol ATP binding|protein binding|RNA binding|serine-tRNA ligase activity central_nervous_system(1) 1 all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233) L-Serine(DB00133) GGCAGACAGCGAGTGGCGACG 0.587 NaN 0 0 0 0.00308 0 6 21 GNAI3 2773 broad.mit.edu 37 1 110129467 110129467 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:110129467G>C uc001dxz.2 + 7 994 c.837G>C c.(835-837)AAG>AAC p.K279N NM_006496 NP_006487 P08754 GNAI3_HUMAN guanine nucleotide binding protein (G protein), 279 cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission centrosome|heterotrimeric G-protein complex|midbody G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity ovary(1) 1 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237) AAAAAATAAAGAGGAGTCCGT 0.348 NaN 0 0 0 0.004656 0 28 69 GSTM2 2946 broad.mit.edu 37 1 110213924 110213924 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:110213924G>A uc001dyi.2 + 6 690 c.376G>A c.(376-378)GAA>AAA p.E126K GSTM2_uc001dyj.2_Missense_Mutation_p.E126K|GSTM2_uc010ovt.1_Missense_Mutation_p.E126K|GSTM2_uc009wfk.2_RNA NM_000848 NP_000839 P28161 GSTM2_HUMAN glutathione S-transferase mu 2 isoform 1 126 GST C-terminal. glutathione metabolic process|xenobiotic catabolic process cytoplasm glutathione transferase activity 0 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227) Glutathione(DB00143) ACTGAAACCAGAATACCTGCA 0.542 NaN 0 0 0 0.010818 0 33 33 KCNC4 3749 broad.mit.edu 37 1 110766114 110766114 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:110766114G>A uc001dzh.2 + 2 1264 c.1207G>A c.(1207-1209)GAG>AAG p.E403K KCNC4_uc001dzf.2_Missense_Mutation_p.E403K|KCNC4_uc009wfr.2_Missense_Mutation_p.E403K|KCNC4_uc001dzg.2_Missense_Mutation_p.E403K|KCNC4_uc001dzi.2_RNA NM_004978 NP_004969 Q03721 KCNC4_HUMAN Shaw-related voltage-gated potassium channel 403 synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity large_intestine(1)|ovary(1)|central_nervous_system(1) 3 all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135) CTACTACGCTGAGCGCATTGG 0.592 NaN 0 0 0 0.00278 0 24 88 DDX20 11218 broad.mit.edu 37 1 112299299 112299299 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:112299299G>A uc001ebs.2 + 2 690 c.333G>A c.(331-333)GGG>GGA p.G111G C1orf183_uc001ebp.1_5'Flank|uc001ebr.2_5'Flank|DDX20_uc010owf.1_5'UTR NM_007204 NP_009135 Q9UHI6 DDX20_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 20 111 Helicase ATP-binding.|ATP. assembly of spliceosomal tri-snRNP|ncRNA metabolic process Cajal body|cytoskeleton|cytosol|spliceosomal complex ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding lung(1)|kidney(1) 2 all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05) Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CTGGCACCGGGAAAACCTGTG 0.428 NaN 0 0 0 0.010504 0 21 75 PHTF1 10745 broad.mit.edu 37 1 114242367 114242367 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:114242367G>C uc009wgp.1 - 16 2553 c.2101C>G c.(2101-2103)CTA>GTA p.L701V PHTF1_uc001edm.2_Missense_Mutation_p.L458V NM_006608 NP_006599 Q9UMS5 PHTF1_HUMAN putative homeodomain transcription factor 1 701 Basic motif. nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Lung SC(450;0.184) all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TTGTTTACTAGAGTAAGCTGT 0.284 NaN 0 0 0 0.009096 0 4 14 AP4B1 10717 broad.mit.edu 37 1 114447326 114447326 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:114447326C>T uc001eeb.2 - 1 157 c.14G>A c.(13-15)GGC>GAC p.G5D AP4B1_uc001eec.2_Missense_Mutation_p.G5D|AP4B1_uc001eed.2_Missense_Mutation_p.G5D|AP4B1_uc010owp.1_5'UTR|AP4B1_uc010owq.1_Missense_Mutation_p.G5D|DCLRE1B_uc001eeg.2_5'Flank|DCLRE1B_uc001eeh.2_5'Flank|DCLRE1B_uc001eei.2_5'Flank NM_006594 NP_006585 Q9Y6B7 AP4B1_HUMAN adaptor-related protein complex 4, beta 1 5 intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|soluble fraction|trans-Golgi network protein binding|protein transporter activity ovary(3)|central_nervous_system(1) 4 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GTCCTCGGAGCCAAGGTACGG 0.562 NaN 0 0 0 0.01441 0 87 75 CASQ2 845 broad.mit.edu 37 1 116245548 116245548 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:116245548G>A uc001efx.3 - 10 1272 c.1008C>T c.(1006-1008)GTC>GTT p.V336V CASQ2_uc010owu.1_Silent_p.V265V NM_001232 NP_001223 O14958 CASQ2_HUMAN cardiac calsequestrin 2 precursor 336 heart development|striated muscle contraction sarcoplasmic reticulum lumen calcium ion binding skin(1) 1 Lung SC(450;0.211) all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05) Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12) TCACATCTGTGACATTCACCA 0.483 NaN 0 0 0 0.004482 0 9 15 MAN1A2 10905 broad.mit.edu 37 1 117910898 117910898 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:117910898G>C uc001ehd.1 + 1 814 c.93G>C c.(91-93)TTG>TTC p.L31F MAN1A2_uc009whg.1_5'UTR NM_006699 NP_006690 O60476 MA1A2_HUMAN mannosidase, alpha, class 1A, member 2 31 Cytoplasmic (Potential). N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity 0 Lung SC(450;0.225) all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05) Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243) GGGCTACCTTGAGACTTTCTG 0.493 NaN 0 0 0 0.00632 0 29 90 SPAG17 200162 broad.mit.edu 37 1 118624072 118624072 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:118624072C>T uc001ehk.2 - 14 2024 c.1956G>A c.(1954-1956)ATG>ATA p.M652I NM_206996 NP_996879 Q6Q759 SPG17_HUMAN sperm associated antigen 17 652 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) TATTCATTTTCATGACATATT 0.408 NaN 0 0 0 0.012213 0 32 107 PDE4DIP 9659 broad.mit.edu 37 1 144952287 144952287 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:144952287C>T uc001elw.3 - 4 723 c.432G>A c.(430-432)CTG>CTA p.L144L NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Silent_p.L210L|PDE4DIP_uc001emc.1_Silent_p.L144L|PDE4DIP_uc001emd.1_Silent_p.L144L|PDE4DIP_uc001emg.1_Silent_p.L144L|PDE4DIP_uc001emh.2_Silent_p.L281L NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 144 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) TGACTCCCTTCAGTTTCTCTG 0.542 NaN T PDGFRB MPD 0 0 0 0.010504 0 8 101 PDE4DIP 9659 broad.mit.edu 37 1 145075044 145075044 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:145075044C>T uc001emk.2 - 2 467 c.250G>A c.(250-252)GAT>AAT p.D84N NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001emh.2_Intron Q5VU43 MYOME_HUMAN SubName: Full=Phosphodiesterase 4D interacting protein; Error:Variant_position_missing_in_Q5VU43_after_alignment 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) ATCCAGCCATCAGGCAGGGCT 0.502 NaN T PDGFRB MPD 0 0 0 0.006214 0 8 57 NBPF10 100132406 broad.mit.edu 37 1 145293493 145293493 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:145293493G>A uc001end.3 + 1 123 c.88G>A c.(88-90)GAG>AAG p.E30K NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Missense_Mutation_p.E30K|NOTCH2NL_uc010oyh.1_RNA|NBPF10_uc001emq.1_Missense_Mutation_p.E30K NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN hypothetical protein LOC100132406 30 0 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) CCAGCTGGCAGAGAAGAAACA 0.483 NaN 0 0 0 0.01441 0 40 685 ANKRD35 148741 broad.mit.edu 37 1 145562892 145562892 + Nonsense_Mutation SNP T T G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:145562892T>G uc001eob.1 + 10 2688 c.2580T>G c.(2578-2580)TAT>TAG p.Y860* NBPF10_uc001emp.3_Intron|ANKRD35_uc010oyx.1_Nonsense_Mutation_p.Y703* NM_144698 NP_653299 Q8N283 ANR35_HUMAN ankyrin repeat domain 35 860 Potential. ovary(4)|skin(1) 5 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TGGAAAAGTATAATACGGCCT 0.677 NaN 0 0 0 0.013537 0 10 2 RNF115 27246 broad.mit.edu 37 1 145688151 145688151 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:145688151G>A uc001eoj.2 + 9 1050 c.846G>A c.(844-846)CAG>CAA p.Q282Q NBPF10_uc001emp.3_Intron|RNF115_uc001eok.2_Silent_p.Q249Q|RNF115_uc009wiy.2_Silent_p.Q201Q NM_014455 NP_055270 Q9Y4L5 RN115_HUMAN Rabring 7 282 protein autoubiquitination cytosol protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 GGCAAAGCCAGAGCACTGAGG 0.458 NaN 0 0 0 0.01441 0 49 114 GPR89B 51463 broad.mit.edu 37 1 147408770 147408770 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:147408770C>G uc001epv.3 + 2 216 c.72C>G c.(70-72)TTC>TTG p.F24L GPR89B_uc010ozs.1_Missense_Mutation_p.F24L|GPR89B_uc010ozt.1_5'UTR|GPR89B_uc010ozu.1_5'UTR|GPR89B_uc001epw.3_5'UTR|GPR89B_uc010ozv.1_5'UTR NM_016334 NP_057418 B7ZAQ6 GPHRA_HUMAN G protein-coupled receptor 89B 24 Helical; (Potential). intracellular pH reduction|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport Golgi cisterna membrane|Golgi-associated vesicle membrane|integral to membrane signal transducer activity|voltage-gated anion channel activity 0 all_hematologic(923;0.0276) GGTGGCTTTTCTTCATGCGCC 0.294 NaN 0 0 0 0.005524 0 32 176 HIST2H3D 653604 broad.mit.edu 37 1 149785205 149785205 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:149785205G>A uc010pbl.1 - 1 32 c.32C>T c.(31-33)TCG>TTG p.S11L HIST2H2BF_uc010pbj.1_5'Flank|HIST2H2BF_uc010pbk.1_5'Flank|HIST2H2BF_uc001esr.2_5'Flank NM_001123375 NP_001116847 Q71DI3 H32_HUMAN histone cluster 2, H3d 11 blood coagulation|nucleosome assembly nucleoplasm|nucleosome DNA binding|protein binding 0 GCCGCCGGTCGACTTGCGGGC 0.622 NaN 0 0 0 0.012319 0 13 28 ANP32E 81611 broad.mit.edu 37 1 150193049 150193049 + Nonsense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:150193049G>A uc001etw.2 - 7 1121 c.751C>T c.(751-753)CGA>TGA p.R251* ANP32E_uc010pbt.1_RNA|ANP32E_uc010pbu.1_Nonsense_Mutation_p.R203*|ANP32E_uc010pbv.1_Nonsense_Mutation_p.R210*|ANP32E_uc001etv.3_Nonsense_Mutation_p.R250* NM_030920 NP_112182 Q9BTT0 AN32E_HUMAN acidic (leucine-rich) nuclear phosphoprotein 32 251 Asp/Glu-rich (highly acidic). cytoplasmic membrane-bounded vesicle|nucleus phosphatase inhibitor activity 0 Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) TTCTCCCCTCGAAGACCTCCT 0.368 NaN 0 0 0 0.01441 0 316 154 ADAMTSL4 54507 broad.mit.edu 37 1 150532646 150532646 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:150532646G>A uc001eux.2 + 19 3435 c.3199G>A c.(3199-3201)GAG>AAG p.E1067K ADAMTSL4_uc009wlw.2_Missense_Mutation_p.E1090K|ADAMTSL4_uc010pcg.1_Missense_Mutation_p.E1028K|ADAMTSL4_uc009wlx.2_Missense_Mutation_p.E230K NM_019032 NP_061905 Q6UY14 ATL4_HUMAN thrombospondin repeat containing 1 isoform 1 1067 apoptosis|positive regulation of apoptosis metalloendopeptidase activity|protease binding ovary(1)|skin(1) 2 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|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;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) ACATGTCCTGGAGCGGTCTCC 0.627 NaN OREG0013787 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.01441 0 83 24 MCL1 4170 broad.mit.edu 37 1 150550774 150550774 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:150550774G>A uc001euz.2 - 2 1012 c.882C>T c.(880-882)ATC>ATT p.I294I MCL1_uc010pch.1_Silent_p.I184I|MCL1_uc001eva.2_Intron NM_021960 NP_068779 Q07820 MCL1_HUMAN myeloid cell leukemia sequence 1 isoform 1 294 anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus integral to membrane|mitochondrial outer membrane|nucleoplasm BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity 0 all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|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;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) GAACGTCTGTGATACTTTCTG 0.453 NaN 0 0 0 0.00874 0 34 266 PRUNE 58497 broad.mit.edu 37 1 150981133 150981133 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:150981133C>G uc001ewh.1 + 1 161 c.25C>G c.(25-27)CGA>GGA p.R9G PRUNE_uc001ewi.1_5'UTR|PRUNE_uc010pco.1_5'UTR|PRUNE_uc001ewj.1_5'UTR|FAM63A_uc001ewc.2_5'Flank|FAM63A_uc010pcm.1_5'Flank|FAM63A_uc001ewd.2_5'Flank|FAM63A_uc001ewe.2_5'Flank|FAM63A_uc001ewf.2_5'Flank|FAM63A_uc010pcn.1_5'Flank|FAM63A_uc001ewg.2_5'Flank NM_021222 NP_067045 Q86TP1 PRUNE_HUMAN prune 9 cytoplasm|focal adhesion|nucleus inorganic diphosphatase activity|manganese ion binding|protein binding ovary(1) 1 all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) GCAGGGTTGTCGAGCTGCTCT 0.602 NaN 0 0 0 0.004878 0 35 203 C1orf56 54964 broad.mit.edu 37 1 151021023 151021023 + Nonsense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:151021023C>T uc001ewn.2 + 1 765 c.700C>T c.(700-702)CGA>TGA p.R234* NM_017860 NP_060330 Q9BUN1 CA056_HUMAN hypothetical protein LOC54964 precursor 234 extracellular region 0 Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) CGGGCGCCTTCGAGTTGGGGC 0.657 NaN OREG0013793 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.01441 0 206 86 PI4KB 5298 broad.mit.edu 37 1 151288752 151288752 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:151288752G>A uc001ext.2 - 2 621 c.206C>T c.(205-207)TCT>TTT p.S69F PI4KB_uc001exr.2_Missense_Mutation_p.S81F|PI4KB_uc001exs.2_Missense_Mutation_p.S69F|PI4KB_uc001exu.2_Missense_Mutation_p.S69F|PI4KB_uc010pcw.1_Intron|PI4KB_uc009wmq.1_Missense_Mutation_p.S81F NM_002651 NP_002642 Q9UBF8 PI4KB_HUMAN catalytic phosphatidylinositol 4-kinase beta 69 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding ovary(2)|skin(2) 4 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) GCCTCTGCTAGAGACTGCCAC 0.572 NaN 0 0 0 0.004007 0 15 137 SELENBP1 8991 broad.mit.edu 37 1 151339220 151339220 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:151339220G>A uc001exx.2 - 6 689 c.642C>T c.(640-642)TTC>TTT p.F214F SELENBP1_uc010pcy.1_Silent_p.F256F|SELENBP1_uc001exy.2_Silent_p.F111F|SELENBP1_uc001exz.2_Silent_p.F111F|SELENBP1_uc010pcz.1_Silent_p.F152F|SELENBP1_uc009wms.2_Intron|SELENBP1_uc009wmt.2_Silent_p.F111F|SELENBP1_uc001eya.2_Silent_p.F150F|SELENBP1_uc009wmu.2_Silent_p.F111F NM_003944 NP_003935 Q13228 SBP1_HUMAN selenium binding protein 1 214 protein transport cytosol|membrane|nucleolus protein binding|selenium binding 0 Lung SC(34;0.00471)|Ovarian(49;0.00871)|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) CAGCGGGGTTGAAGCCATCTC 0.582 NaN 0 0 0 0.01441 0 51 225 PSMB4 5692 broad.mit.edu 37 1 151372617 151372617 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:151372617G>A uc001eyc.1 + 2 324 c.301G>A c.(301-303)GAC>AAC p.D101N PSMB4_uc010pda.1_Missense_Mutation_p.D101N|PSMB4_uc001eyb.1_Missense_Mutation_p.D101N NM_002796 NP_002787 P28070 PSB4_HUMAN proteasome beta 4 subunit 101 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex threonine-type endopeptidase activity ovary(2) 2 Lung SC(34;0.00471)|Ovarian(49;0.00871)|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) TGCCTCTGGCGACTACGCTGA 0.537 NaN 0 0 0 0.01441 0 56 402 TUFT1 7286 broad.mit.edu 37 1 151542174 151542174 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:151542174G>C uc001eyl.2 + 7 584 c.522G>C c.(520-522)AAG>AAC p.K174N TUFT1_uc001eym.2_Missense_Mutation_p.K149N|TUFT1_uc010pdf.1_Missense_Mutation_p.K193N|TUFT1_uc010pdg.1_Missense_Mutation_p.K122N NM_020127 NP_064512 Q9NNX1 TUFT1_HUMAN tuftelin 1 isoform 1 174 Potential. bone mineralization|odontogenesis cytoplasm|extracellular region structural constituent of tooth enamel 0 Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) GCTTGAGGAAGACGGTGCAGG 0.512 NaN 0 0 0 0.01441 0 62 405 RORC 6097 broad.mit.edu 37 1 151785508 151785508 + Silent SNP G G T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:151785508G>T uc001ezh.2 - 9 1308 c.1200C>A c.(1198-1200)ATC>ATA p.I400I RORC_uc001ezg.2_Silent_p.I379I|RORC_uc010pdo.1_Silent_p.I454I|RORC_uc010pdp.1_Silent_p.I388I NM_005060 NP_005051 P51449 RORG_HUMAN RAR-related orphan receptor C isoform a 400 Ligand-binding. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1)|skin(1) 2 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) AGAAGTCAAAGATGGAGCTGA 0.537 NaN 1 0 1.49723e-40 0.01441 1.59186e-40 72 26 TCHH 7062 broad.mit.edu 37 1 152083964 152083964 + Nonsense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:152083964G>A uc001ezp.2 - 2 1729 c.1729C>T c.(1729-1731)CAG>TAG p.Q577* TCHH_uc009wne.1_Nonsense_Mutation_p.Q577* NM_007113 NP_009044 Q07283 TRHY_HUMAN trichohyalin 577 9 X 28 AA approximate tandem repeats. 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) TTCAGCAGCTGATCGCGCCTC 0.672 NaN 0 0 0 0.003271 0 28 56 FLG 2312 broad.mit.edu 37 1 152276091 152276091 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:152276091G>A uc001ezu.1 - 3 11307 c.11271C>T c.(11269-11271)ACC>ACT p.T3757T NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 3757 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) GTCCACGAATGGTGTCCTGAC 0.607 NaN Ichthyosis 0 0 0 0.01441 0 559 215 S100A6 6277 broad.mit.edu 37 1 153507246 153507246 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:153507246C>T uc001fbw.1 - 3 513 c.199G>A c.(199-201)GAG>AAG p.E67K NM_014624 NP_055439 P06703 S10A6_HUMAN S100 calcium-binding protein A6 67 EF-hand 2.|2. axonogenesis|positive regulation of fibroblast proliferation|signal transduction cytosol|extrinsic to internal side of plasma membrane|nuclear envelope|perinuclear region of cytoplasm|ruffle calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|S100 beta binding|tropomyosin binding ovary(1) 1 all_lung(78;1.66e-32)|Lung NSC(65;5.71e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) AAGTTCACCTCCTGGTCCTTG 0.478 NaN 0 0 0 0.01441 0 112 95 ZBTB7B 51043 broad.mit.edu 37 1 154988999 154988999 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:154988999C>T uc001fgk.3 + 4 1616 c.1458C>T c.(1456-1458)CTC>CTT p.L486L ZBTB7B_uc009wpa.2_Silent_p.L486L|ZBTB7B_uc001fgj.3_Silent_p.L520L|ZBTB7B_uc010peq.1_Silent_p.L520L|ZBTB7B_uc001fgl.3_Silent_p.L486L NM_015872 NP_056956 O15156 ZBT7B_HUMAN zinc finger and BTB domain containing 7B 486 cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding 0 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) GCCTCGACCTCTCCAATGGCC 0.682 NaN 0 0 0 0.010729 0 8 42 MUC1 4582 broad.mit.edu 37 1 155161824 155161824 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:155161824G>A uc010pft.1 - 2 375 c.309C>T c.(307-309)GTC>GTT p.V103V RAG1AP1_uc010pey.1_Intron|MUC1_uc001fhy.2_5'Flank|MUC1_uc001fhz.2_5'Flank|MUC1_uc010pfb.1_Intron|MUC1_uc010pfc.1_Intron|MUC1_uc009wph.2_Intron|MUC1_uc010pfd.1_Intron|MUC1_uc010pfe.1_Intron|MUC1_uc010pff.1_Intron|MUC1_uc009wpi.2_Intron|MUC1_uc010pfg.1_Intron|MUC1_uc010pfh.1_Intron|MUC1_uc010pfi.1_Intron|MUC1_uc010pfj.1_Intron|MUC1_uc010pfk.1_Intron|MUC1_uc010pfl.1_Intron|MUC1_uc001fin.2_Intron|MUC1_uc009wpk.2_Intron|MUC1_uc001fip.2_Intron|MUC1_uc009wqg.2_Intron|MUC1_uc009wpo.2_Intron|MUC1_uc009wps.2_Intron|MUC1_uc009wpt.2_Intron|MUC1_uc001fic.2_Intron|MUC1_uc009wpu.2_Intron|MUC1_uc009wpq.2_Intron|MUC1_uc009wpv.2_Intron|MUC1_uc001fim.2_Intron|MUC1_uc001fib.2_Intron|MUC1_uc009wpw.2_Intron|MUC1_uc001fie.2_Intron|MUC1_uc009wpr.2_Intron|MUC1_uc001fig.2_Intron|MUC1_uc001fif.2_Intron|MUC1_uc009wpx.2_Intron|MUC1_uc001fid.2_Intron|MUC1_uc009wpj.2_Intron|MUC1_uc001fij.2_Intron|MUC1_uc009wpy.2_Intron|MUC1_uc010pfm.1_Intron|MUC1_uc001fiq.2_Intron|MUC1_uc009wpz.2_Intron|MUC1_uc010pfn.1_Intron|MUC1_uc009wqa.2_Intron|MUC1_uc010pfo.1_Intron|MUC1_uc010pfp.1_Intron|MUC1_uc001fii.2_Intron|MUC1_uc001fih.2_Intron|MUC1_uc001fia.2_Intron|MUC1_uc009wqc.2_Intron|MUC1_uc009wqd.2_Intron|MUC1_uc009wqb.2_Intron|MUC1_uc010pfq.1_Intron|MUC1_uc010pfr.1_Intron|MUC1_uc001fit.2_Intron|MUC1_uc009wqe.2_Intron|MUC1_uc001fil.2_Intron|MUC1_uc009wpm.2_Intron|MUC1_uc009wpp.2_Intron|MUC1_uc010pfs.1_Intron|MUC1_uc001fik.2_Intron|MUC1_uc001fio.2_Intron|MUC1_uc009wqf.2_Intron|MUC1_uc009wpl.2_Intron|MUC1_uc009wpn.2_Intron|MUC1_uc001fis.1_Intron|uc009wqh.2_5'Flank|MUC1_uc001fiv.1_Silent_p.V112V|MUC1_uc001fiw.1_Silent_p.V103V P15941 MUC1_HUMAN SubName: Full=MUC1 isoform M13; 103 Extracellular (Potential).|3. apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus protein binding large_intestine(1)|pancreas(1)|breast(1)|skin(1) 4 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) CTGGCCTGGTGACTGGGACCG 0.697 NaN T IGH@ B-NHL 0 0 0 0.004482 0 9 50 GON4L 54856 broad.mit.edu 37 1 155823271 155823271 + Nonsense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:155823271G>A uc001flz.2 - 2 398 c.301C>T c.(301-303)CAG>TAG p.Q101* GON4L_uc001fly.1_Nonsense_Mutation_p.Q101*|GON4L_uc009wrh.1_Nonsense_Mutation_p.Q101*|GON4L_uc001fma.1_Nonsense_Mutation_p.Q101*|GON4L_uc001fmc.2_Nonsense_Mutation_p.Q101*|GON4L_uc001fmd.3_Nonsense_Mutation_p.Q101*|GON4L_uc009wri.2_5'UTR NM_001037533 NP_001032622 Q3T8J9 GON4L_HUMAN gon-4-like isoform a 101 regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding ovary(3) 3 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) GTGATTCCCTGAGAGATGGCC 0.443 NaN 0 0 0 0.01441 0 49 362 MEX3A 92312 broad.mit.edu 37 1 156051412 156051412 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:156051412C>T uc001fnd.3 - 1 378 c.378G>A c.(376-378)CTG>CTA p.L126L LMNA_uc001fnf.1_5'Flank NM_001093725 NP_001087194 A1L020 MEX3A_HUMAN MEX3A protein 126 cytoplasmic mRNA processing body|nucleus RNA binding|zinc ion binding 0 Hepatocellular(266;0.158)|all_neural(408;0.195) TGCTGCCCTTCAGGCGCAGCT 0.522 NaN 0 0 0 0.008871 0 19 0 TMEM79 84283 broad.mit.edu 37 1 156256052 156256052 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:156256052G>A uc010phi.1 + 3 955 c.759G>A c.(757-759)GGG>GGA p.G253G TMEM79_uc001fod.2_Silent_p.G94G|TMEM79_uc009wrw.2_Silent_p.G253G NM_032323 NP_115699 Q9BSE2 TMM79_HUMAN transmembrane protein 79 253 Helical; (Potential). integral to membrane central_nervous_system(1) 1 Hepatocellular(266;0.158) TCCACCCAGGGATCCTGGTGT 0.612 NaN 0 0 0 0.003954 0 26 105 C1orf85 112770 broad.mit.edu 37 1 156263941 156263941 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:156263941C>T uc001foh.2 - 4 679 c.666G>A c.(664-666)CTG>CTA p.L222L C1orf85_uc001fof.3_5'Flank|C1orf85_uc001fog.1_Intron|C1orf85_uc001foi.2_Silent_p.L222L|C1orf85_uc009wrx.2_Silent_p.L155L|C1orf85_uc001foj.2_Silent_p.L136L NM_144580 NP_653181 Q8WWB7 NCUG1_HUMAN kidney predominant protein NCU-G1 precursor 222 Lumenal (Potential). positive regulation of transcription from RNA polymerase II promoter cytosol|integral to membrane|lysosomal membrane|nucleus ligand-dependent nuclear receptor activity|protein binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding ovary(2) 2 Hepatocellular(266;0.158) AGGCTCCAATCAGGGCCACCT 0.627 NaN 0 0 0 0.01441 0 101 41 CCT3 7203 broad.mit.edu 37 1 156280783 156280783 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:156280783C>T uc001fol.1 - 12 1579 c.1359G>A c.(1357-1359)CAG>CAA p.Q453Q CCT3_uc001fom.1_Silent_p.Q452Q|CCT3_uc001fon.1_Silent_p.Q415Q|CCT3_uc010phj.1_Silent_p.Q407Q|CCT3_uc010phk.1_Silent_p.Q407Q|CCT3_uc010phl.1_Silent_p.Q407Q NM_005998 NP_005989 P49368 TCPG_HUMAN chaperonin containing TCP1, subunit 3 isoform a 453 'de novo' posttranslational protein folding cytoskeleton|cytosol|plasma membrane ATP binding|unfolded protein binding ovary(1)|skin(1) 2 Hepatocellular(266;0.158) CCCCACAGTTCTGGATCAGGG 0.537 NaN 0 0 0 0.010729 0 11 116 RHBG 57127 broad.mit.edu 37 1 156354598 156354598 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:156354598G>A uc010pho.1 + 11 1376 c.1338G>A c.(1336-1338)CAG>CAA p.Q446Q RHBG_uc001fos.2_3'UTR|RHBG_uc009wrz.2_3'UTR|RHBG_uc001for.2_3'UTR NM_020407 NP_065140 Q9H310 RHBG_HUMAN Rhesus blood group, B glycoprotein Error:Variant_position_missing_in_Q9H310_after_alignment transepithelial ammonium transport anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding ovary(2) 2 Hepatocellular(266;0.158) ATAAAGCCCAGAGACCTCTGA 0.592 NaN OREG0013871 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.003755 0 34 8 FCRL4 83417 broad.mit.edu 37 1 157550118 157550118 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:157550118C>T uc001fqw.2 - 8 1406 c.1270G>A c.(1270-1272)GAA>AAA p.E424K FCRL4_uc010phy.1_RNA NM_031282 NP_112572 Q96PJ5 FCRL4_HUMAN Fc receptor-like 4 precursor 424 Cytoplasmic (Potential). integral to membrane|plasma membrane receptor activity ovary(2)|kidney(1)|skin(1) 4 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.245) CACCTGGTTTCGTCTCCCAAG 0.413 NaN 0 0 0 0.01441 0 202 80 CCDC19 25790 broad.mit.edu 37 1 159842861 159842861 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:159842861C>T uc001fui.2 - 11 1468 c.1450G>A c.(1450-1452)GAG>AAG p.E484K CCDC19_uc009wtb.2_RNA|CCDC19_uc001fuj.2_RNA|CCDC19_uc001fuk.2_Missense_Mutation_p.E399K|CCDC19_uc001ful.2_Missense_Mutation_p.E399K NM_012337 NP_036469 Q9UL16 CCD19_HUMAN nasopharyngeal epithelium specific protein 1 484 Potential. mitochondrion|soluble fraction ovary(1) 1 all_hematologic(112;0.0597) BRCA - Breast invasive adenocarcinoma(70;0.151) TGCTGGTTCTCGCGCACCTGG 0.602 NaN 0 0 0 0.008361 0 28 94 IGSF8 93185 broad.mit.edu 37 1 160063790 160063790 + Missense_Mutation SNP G G T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:160063790G>T uc001fva.2 - 3 659 c.614C>A c.(613-615)TCT>TAT p.S205Y IGSF8_uc001fuz.2_Missense_Mutation_p.S205Y|IGSF8_uc009wtf.2_Missense_Mutation_p.S205Y NM_052868 NP_443100 Q969P0 IGSF8_HUMAN immunoglobulin superfamily, member 8 205 Extracellular (Potential).|Ig-like C2-type 2. cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development integral to membrane protein binding 0 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) CTCGGGCACAGATCGCCCAAA 0.627 NaN 1 0 4.45467e-35 0.011902 4.72927e-35 42 63 CASQ1 844 broad.mit.edu 37 1 160162631 160162631 + Missense_Mutation SNP G G A rs143532190 TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:160162631G>A uc010pja.1 + 2 576 c.319G>A c.(319-321)GGG>AGG p.G107R NM_001231 NP_001222 P31415 CASQ1_HUMAN calsequestrin 1 107 mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum calcium ion binding central_nervous_system(1) 1 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TGTTGGCTTCGGGCTGGTAGA 0.512 NaN OREG0013927 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.004289 0 36 281 CASQ1 844 broad.mit.edu 37 1 160163575 160163575 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:160163575G>C uc010pja.1 + 3 660 c.403G>C c.(403-405)GAT>CAT p.D135H NM_001231 NP_001222 P31415 CASQ1_HUMAN calsequestrin 1 135 mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum calcium ion binding central_nervous_system(1) 1 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) ATTCAAGGGAGATGAAGTCAT 0.532 NaN 0 0 0 0.010504 0 17 82 COPA 1314 broad.mit.edu 37 1 160261692 160261692 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:160261692C>T uc009wti.2 - 30 3569 c.3175G>A c.(3175-3177)GAG>AAG p.E1059K COPA_uc001fvv.3_Missense_Mutation_p.E1068K NM_004371 NP_004362 P53621 COPA_HUMAN coatomer protein complex, subunit alpha isoform 1059 COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction hormone activity|structural molecule activity ovary(1)|skin(1) 2 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) ACAATGTACTCACGGCAAATG 0.522 NaN OREG0013929 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.01441 0 367 115 CD48 962 broad.mit.edu 37 1 160681499 160681499 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:160681499G>A uc001fwn.2 - 1 87 c.55C>T c.(55-57)CTG>TTG p.L19L CD48_uc001fwo.1_Silent_p.L19L|CD48_uc001fwp.2_Silent_p.L19L NM_001778 NP_001769 P09326 CD48_HUMAN CD48 molecule precursor 19 blood coagulation|defense response|leukocyte migration integral to plasma membrane|membrane raft protein binding 0 all_cancers(52;2.18e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) AGGAGTGACAGAGGCAGCAGT 0.532 NaN 0 0 0 0.01441 0 52 14 MPZ 4359 broad.mit.edu 37 1 161277071 161277071 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:161277071C>T uc001gaf.3 - 2 278 c.241G>A c.(241-243)GAA>AAA p.E81K MPZ_uc010pko.1_RNA NM_000530 NP_000521 P25189 MYP0_HUMAN myelin protein zero 71 Ig-like V-type.|Extracellular (Potential). synaptic transmission integral to plasma membrane structural molecule activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 all_cancers(52;6.96e-17)|all_hematologic(112;0.093) Breast(1374;0.181) BRCA - Breast invasive adenocarcinoma(70;0.00376) CTGCCCCCTTCGGGCTGGTAG 0.552 NaN 0 0 0 0.001168 0 4 67 FCGR2B 2213 broad.mit.edu 37 1 161641245 161641245 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:161641245C>G uc001gaz.1 + 3 289 c.197C>G c.(196-198)TCT>TGT p.S66C FCGR2B_uc009wum.1_Missense_Mutation_p.S66C|FCGR2B_uc001gay.1_Missense_Mutation_p.S65C|FCGR2B_uc001gba.1_Missense_Mutation_p.S65C|FCGR2B_uc001gbb.1_Missense_Mutation_p.S66C|FCGR2B_uc009wun.1_Missense_Mutation_p.S59C NM_004001 NP_003992 P31994 FCG2B_HUMAN Fc fragment of IgG, low affinity IIb, receptor 66 Ig-like C2-type 1.|Extracellular (Potential). immune response|interspecies interaction between organisms|regulation of immune response integral to membrane|plasma membrane IgG binding|receptor activity 0 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) CAGGAGGACTCTGTGACTCTG 0.587 NaN T NaN ALL 0 0 0 0.006122 0 18 99 FCGR2B 2213 broad.mit.edu 37 1 161641318 161641318 + Silent SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:161641318C>G uc001gaz.1 + 3 362 c.270C>G c.(268-270)CTC>CTG p.L90L FCGR2B_uc009wum.1_Silent_p.L90L|FCGR2B_uc001gay.1_Silent_p.L89L|FCGR2B_uc001gba.1_Silent_p.L89L|FCGR2B_uc001gbb.1_Silent_p.L90L|FCGR2B_uc009wun.1_Silent_p.L83L NM_004001 NP_003992 P31994 FCG2B_HUMAN Fc fragment of IgG, low affinity IIb, receptor 90 Ig-like C2-type 1.|Extracellular (Potential). immune response|interspecies interaction between organisms|regulation of immune response integral to membrane|plasma membrane IgG binding|receptor activity 0 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) ATGGGAATCTCATTCCCACCC 0.587 NaN T NaN ALL 0 0 0 0.00499 0 15 87 FCGR2B 2213 broad.mit.edu 37 1 161641408 161641408 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:161641408C>T uc001gaz.1 + 3 452 c.360C>T c.(358-360)CTC>CTT p.L120L FCGR2B_uc009wum.1_Silent_p.L120L|FCGR2B_uc001gay.1_Silent_p.L119L|FCGR2B_uc001gba.1_Silent_p.L119L|FCGR2B_uc001gbb.1_Silent_p.L120L|FCGR2B_uc009wun.1_Silent_p.L113L NM_004001 NP_003992 P31994 FCG2B_HUMAN Fc fragment of IgG, low affinity IIb, receptor 120 Ig-like C2-type 1.|Extracellular (Potential). immune response|interspecies interaction between organisms|regulation of immune response integral to membrane|plasma membrane IgG binding|receptor activity 0 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) AGACCAGCCTCAGCGACCCTG 0.592 NaN T NaN ALL 0 0 0 0.013537 0 11 54 FCRLB 127943 broad.mit.edu 37 1 161695648 161695648 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:161695648C>T uc001gbh.2 + 6 579 c.345C>T c.(343-345)TTC>TTT p.F115F FCRLB_uc009wus.2_Silent_p.F115F|FCRLB_uc001gbj.2_Silent_p.F115F|FCRLB_uc001gbk.2_Silent_p.F115F|FCRLB_uc001gbl.2_Silent_p.F108F|FCRLB_uc001gbm.2_Silent_p.F108F|FCRLB_uc001gbi.2_Silent_p.F115F|FCRLB_uc001gbn.3_5'Flank NM_001002901 NP_001002901 Q6BAA4 FCRLB_HUMAN Fc receptor-like B 115 Ig-like C2-type 2. endoplasmic reticulum 0 all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00634) CGCCAGTGTTCGAGGGTGAGC 0.592 NaN 0 0 0 0.001984 0 4 52 FCRLB 127943 broad.mit.edu 37 1 161696695 161696695 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:161696695C>T uc001gbh.2 + 7 1011 c.777C>T c.(775-777)GTC>GTT p.V259V FCRLB_uc009wus.2_Silent_p.V259V|FCRLB_uc001gbj.2_Missense_Mutation_p.S211L|FCRLB_uc001gbk.2_Nonsense_Mutation_p.R225*|FCRLB_uc001gbl.2_Missense_Mutation_p.S204L|FCRLB_uc001gbm.2_Nonsense_Mutation_p.R218*|FCRLB_uc001gbi.2_Silent_p.V259V|FCRLB_uc001gbn.3_Nonsense_Mutation_p.R262* NM_001002901 NP_001002901 Q6BAA4 FCRLB_HUMAN Fc receptor-like B 259 endoplasmic reticulum 0 all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00634) AGCCCGAGGTCGAGGAGCTCG 0.687 NaN 0 0 0 0.004007 0 11 3 BLZF1 8548 broad.mit.edu 37 1 169351514 169351514 + Nonsense_Mutation SNP G G T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:169351514G>T uc001gfx.1 + 6 1449 c.1012G>T c.(1012-1014)GAA>TAA p.E338* BLZF1_uc001gfy.2_Nonsense_Mutation_p.E338*|BLZF1_uc009wvp.1_Intron NM_003666 NP_003657 Q9H2G9 GO45_HUMAN basic leucine zipper nuclear factor 1 338 cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter Golgi lumen|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding skin(1) 1 all_hematologic(923;0.208) GAAAATGGCTGAAACGGTAAA 0.279 NaN 1 0 4.3838e-07 0.001855 4.5106e-07 14 50 SELE 6401 broad.mit.edu 37 1 169696928 169696928 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:169696928C>G uc001ggm.3 - 9 1577 c.1420G>C c.(1420-1422)GAG>CAG p.E474Q C1orf112_uc001ggj.2_Intron NM_000450 NP_000441 P16581 LYAM2_HUMAN selectin E precursor 474 Extracellular (Potential).|Sushi 5. actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity ovary(3)|skin(2) 5 all_hematologic(923;0.208) GATGTGCACTCAAGTTGAGTT 0.448 NaN 0 0 0 0.01441 0 82 65 RC3H1 149041 broad.mit.edu 37 1 173916678 173916678 + Nonsense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:173916678G>A uc001gju.3 - 14 2653 c.2566C>T c.(2566-2568)CAG>TAG p.Q856* RC3H1_uc010pms.1_Nonsense_Mutation_p.Q856*|RC3H1_uc001gjv.2_Nonsense_Mutation_p.Q856*|RC3H1_uc010pmt.1_Nonsense_Mutation_p.Q856* NM_172071 NP_742068 Q5TC82 RC3H1_HUMAN roquin 856 cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway cytoplasmic mRNA processing body|stress granule mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 GCTCTTCTCTGAAGATCTAAT 0.438 NaN 0 0 0 0.010771 0 42 34 RFWD2 64326 broad.mit.edu 37 1 176012859 176012859 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:176012859G>A uc001gku.1 - 13 1773 c.1517C>T c.(1516-1518)TCA>TTA p.S506L RFWD2_uc001gkv.1_Missense_Mutation_p.S482L|RFWD2_uc001gkw.1_Missense_Mutation_p.S266L|RFWD2_uc009wwv.2_Missense_Mutation_p.S305L|RFWD2_uc001gkt.1_Missense_Mutation_p.S345L NM_022457 NP_071902 Q8NHY2 RFWD2_HUMAN ring finger and WD repeat domain 2 isoform a 506 WD 2. DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest centrosome|cytosol|focal adhesion|nuclear speck protein binding|ubiquitin-protein ligase activity|zinc ion binding 0 ATAGACCTTTGACCTCTGTCC 0.353 NaN 0 0 0 0.01441 0 75 246 SOAT1 6646 broad.mit.edu 37 1 179320459 179320459 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:179320459C>G uc001gml.2 + 15 1521 c.1458C>G c.(1456-1458)TTC>TTG p.F486L SOAT1_uc010pni.1_Missense_Mutation_p.F421L|SOAT1_uc001gmm.2_Missense_Mutation_p.F428L|SOAT1_uc010pnj.1_Missense_Mutation_p.F222L|SOAT1_uc010pnk.1_Missense_Mutation_p.F421L NM_003101 NP_003092 P35610 SOAT1_HUMAN sterol O-acyltransferase 1 486 Helical; (Potential). cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly endoplasmic reticulum membrane|integral to membrane|microsome cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding central_nervous_system(1)|skin(1) 2 Ezetimibe(DB00973)|Hesperetin(DB01094) TAGTGGCTTTCAACTTCATTG 0.269 NaN 0 0 0 0.01441 0 57 169 C1orf125 126859 broad.mit.edu 37 1 179339182 179339182 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:179339182G>A uc001gmo.2 + 4 470 c.343G>A c.(343-345)GAC>AAC p.D115N C1orf125_uc009wxg.2_RNA|C1orf125_uc001gmn.1_5'UTR|C1orf125_uc010pnl.1_RNA|C1orf125_uc001gmp.2_Missense_Mutation_p.D115N NM_144696 NP_653297 Q5T1B0 AXDN1_HUMAN hypothetical protein LOC126859 isoform 1 115 0 ATACCTGATTGACCATCCCGT 0.413 NaN 0 0 0 0.008291 0 9 31 TDRD5 163589 broad.mit.edu 37 1 179609578 179609578 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:179609578G>C uc001gnf.1 + 11 2048 c.1798G>C c.(1798-1800)GAG>CAG p.E600Q TDRD5_uc010pnp.1_Missense_Mutation_p.E600Q|TDRD5_uc001gnh.1_Missense_Mutation_p.E155Q NM_173533 NP_775804 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 600 DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding ovary(2)|skin(2)|central_nervous_system(1) 5 GAGACCAGTAGAGGTATGTTT 0.264 NaN 0 0 0 0.012319 0 19 89 CEP350 9857 broad.mit.edu 37 1 180080149 180080149 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:180080149G>A uc001gnt.2 + 38 9590 c.9207G>A c.(9205-9207)GAG>GAA p.E3069E CEP350_uc009wxl.2_Silent_p.E3068E|CEP350_uc001gnv.2_Silent_p.E1204E|CEP350_uc001gnw.1_Silent_p.E826E|CEP350_uc001gnx.1_Silent_p.E826E NM_014810 NP_055625 Q5VT06 CE350_HUMAN centrosome-associated protein 350 3069 centrosome|nucleus|spindle ovary(4) 4 AGCTCCATGAGGAGGAGGCAC 0.413 NaN 0 0 0 0.007413 0 17 59 RGS16 6004 broad.mit.edu 37 1 182571103 182571103 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:182571103C>T uc001gpl.3 - 4 539 c.385G>A c.(385-387)GAG>AAG p.E129K RGS16_uc010pnv.1_Missense_Mutation_p.E129K NM_002928 NP_002919 O15492 RGS16_HUMAN regulator of G-protein signalling 16 129 RGS. negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception cytoplasm|plasma membrane calmodulin binding|GTPase activator activity|signal transducer activity ovary(1) 1 GCTCTAACCTCTTTAGGGGCC 0.567 NaN OREG0014036 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.005524 0 39 43 DHX9 1660 broad.mit.edu 37 1 182845653 182845653 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:182845653C>T uc001gpr.2 + 18 2264 c.2101C>T c.(2101-2103)CCA>TCA p.P701S DHX9_uc001gps.2_Missense_Mutation_p.P487S|DHX9_uc001gpt.2_5'Flank NM_001357 NP_001348 Q08211 DHX9_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 9 701 Helicase C-terminal. CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding ovary(2) 2 AGTGTTTGATCCAGTACCAGT 0.403 NaN 0 0 0 0.00632 0 28 38 C1orf26 54823 broad.mit.edu 37 1 185171807 185171807 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:185171807C>G uc001grg.3 + 11 1659 c.1545C>G c.(1543-1545)AAC>AAG p.N515K C1orf26_uc001grh.3_Missense_Mutation_p.N515K NM_001105518 NP_001098988 Q5T5J6 SWT1_HUMAN hypothetical protein LOC54823 515 PINc. 0 ACTTAAGAAACAAAGGCCTAA 0.368 NaN 0 0 0 0.005443 0 28 56 IVNS1ABP 10625 broad.mit.edu 37 1 185276692 185276692 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:185276692C>T uc001grl.2 - 6 1083 c.460G>A c.(460-462)GAT>AAT p.D154N IVNS1ABP_uc001grj.2_5'Flank|IVNS1ABP_uc009wyj.2_5'UTR|IVNS1ABP_uc009wyk.2_RNA NM_006469 NP_006460 Q9Y6Y0 NS1BP_HUMAN influenza virus NS1A binding protein 154 BACK. interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex ovary(4)|central_nervous_system(1) 5 ATATAAGCATCAACCTTATTC 0.368 NaN 0 0 0 0.010818 0 34 39 HMCN1 83872 broad.mit.edu 37 1 185703957 185703957 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:185703957C>G uc001grq.1 + 1 275 c.46C>G c.(46-48)CTT>GTT p.L16V NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 16 response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 GTTTGCTCTTCTTTATTCTTC 0.488 NaN 0 0 0 0.01441 0 106 108 PLA2G4A 5321 broad.mit.edu 37 1 186946811 186946811 + Silent SNP G G T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:186946811G>T uc001gsc.2 + 16 2056 c.1851G>T c.(1849-1851)CTG>CTT p.L617L PLA2G4A_uc010pos.1_Silent_p.L557L NM_024420 NP_077734 P47712 PA24A_HUMAN cytosolic phospholipase A2, group IVA 617 PLA2c. phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation cytosol|endoplasmic reticulum membrane calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity lung(2)|breast(1) 3 Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103) GGGAAGGGCTGAAGGAGTGCT 0.423 NaN 1 0 1.77063e-15 0.005443 1.86247e-15 27 81 KCNT2 343450 broad.mit.edu 37 1 196342316 196342316 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:196342316C>T uc001gtd.1 - 14 1417 c.1357G>A c.(1357-1359)GCA>ACA p.A453T KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Missense_Mutation_p.A453T|KCNT2_uc001gtf.1_Missense_Mutation_p.A453T|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Missense_Mutation_p.A453T|KCNT2_uc009wyv.1_Missense_Mutation_p.A428T NM_198503 NP_940905 Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 453 Cytoplasmic (Potential).|RCK N-terminal. voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(5)|breast(1)|skin(1) 7 GTAGATGTTGCTGGGCATATA 0.284 NaN 0 0 0 0.010818 0 31 103 ZBTB41 360023 broad.mit.edu 37 1 197145778 197145778 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:197145778C>T uc001gtx.1 - 7 1864 c.1795G>A c.(1795-1797)GAT>AAT p.D599N ZBTB41_uc009wyz.1_RNA NM_194314 NP_919290 Q5SVQ8 ZBT41_HUMAN zinc finger and BTB domain containing 41 599 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 CTTTTATCATCATGATGTACT 0.303 NaN 0 0 0 0.01441 0 59 71 NEK7 140609 broad.mit.edu 37 1 198288556 198288556 + Silent SNP T T G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:198288556T>G uc001gun.3 + 10 1140 c.813T>G c.(811-813)GTT>GTG p.V271V NM_133494 NP_598001 Q8TDX7 NEK7_HUMAN NIMA-related kinase 7 271 Protein kinase. cytoplasm ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity stomach(2)|lung(1)|ovary(1) 4 GACAGTTAGTTAATATGTGCA 0.383 NaN 0 0 0 0.008291 0 11 35 ZNF281 23528 broad.mit.edu 37 1 200377338 200377338 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:200377338G>A uc001gve.2 - 2 1603 c.1496C>T c.(1495-1497)CCA>CTA p.P499L ZNF281_uc001gvf.1_Missense_Mutation_p.P499L|ZNF281_uc001gvg.1_Missense_Mutation_p.P463L NM_012482 NP_036614 Q9Y2X9 ZN281_HUMAN zinc finger protein 281 499 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 TGAGCCACTTGGTTTTCCAGA 0.368 NaN 0 0 0 0.004878 0 37 124 C1orf106 55765 broad.mit.edu 37 1 200878016 200878016 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:200878016G>A uc001gvo.2 + 7 1018 c.988G>A c.(988-990)GAC>AAC p.D330N C1orf106_uc010ppm.1_Missense_Mutation_p.D245N NM_018265 NP_060735 Q3KP66 CA106_HUMAN hypothetical protein LOC55765 isoform 1 330 Pro-rich. skin(2)|ovary(1) 3 AACCAGCCTGGACCACCCCTA 0.642 NaN 0 0 0 0.010729 0 9 44 C1orf106 55765 broad.mit.edu 37 1 200880945 200880945 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:200880945G>A uc001gvo.2 + 9 1609 c.1579G>A c.(1579-1581)GAG>AAG p.E527K C1orf106_uc010ppm.1_Missense_Mutation_p.E442K NM_018265 NP_060735 Q3KP66 CA106_HUMAN hypothetical protein LOC55765 isoform 1 527 skin(2)|ovary(1) 3 GGTGGTGGCTGAGAGCCCCCT 0.731 NaN 0 0 0 0.001984 0 4 12 PPP1R12B 4660 broad.mit.edu 37 1 202318026 202318026 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:202318026G>A uc001gya.1 + 1 191 c.47G>A c.(46-48)CGA>CAA p.R16Q PPP1R12B_uc001gxy.2_Missense_Mutation_p.R16Q|PPP1R12B_uc009xad.1_5'UTR|PPP1R12B_uc009xae.1_Missense_Mutation_p.R16Q|PPP1R12B_uc001gxz.1_Missense_Mutation_p.R16Q NM_002481 NP_002472 O60237 MYPT2_HUMAN protein phosphatase 1, regulatory (inhibitor) 16 regulation of muscle contraction|signal transduction cytoplasm enzyme activator activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(75;0.166) GAGTCGGCGCGAATGCGGCGG 0.682 NaN 0 0 0 0.004672 0 3 6 BTG2 7832 broad.mit.edu 37 1 203276346 203276346 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 G A G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:203276346G>A uc001gzq.2 + 2 328 c.257G>A c.(256-258)GGA>GAA p.G86E 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 86 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 ovary(1)|kidney(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(75;0.203) AGCCAGATCGGACTCAGCCAG 0.632 NaN 0 0 0 0.013537 0 11 38 REN 5972 broad.mit.edu 37 1 204125005 204125005 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:204125005G>A uc001haq.2 - 9 1046 c.1002C>T c.(1000-1002)ATC>ATT p.I334I NM_000537 NP_000528 P00797 RENI_HUMAN renin preproprotein 334 angiotensin maturation|regulation of MAPKKK cascade extracellular space|membrane aspartic-type endopeptidase activity skin(3)|central_nervous_system(1) 4 all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109) Aliskiren(DB01258)|Remikiren(DB00212) GGTGGAAAGAGATGTCGGGGA 0.567 NaN 0 0 0 0.00308 0 8 9 CDK18 5129 broad.mit.edu 37 1 205498223 205498223 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:205498223C>T uc001hcr.2 + 11 1380 c.1161C>T c.(1159-1161)CTC>CTT p.L387L CDK18_uc001hcp.2_Silent_p.L357L|CDK18_uc001hcq.2_Silent_p.L357L|CDK18_uc010prj.1_Silent_p.L268L|CDK18_uc001hcs.2_Silent_p.L268L|CDK18_uc009xbm.1_Silent_p.L282L|CDK18_uc001hct.2_5'Flank NM_212503 NP_997668 Q07002 CDK18_HUMAN PCTAIRE protein kinase 3 isoform a 355 Protein kinase. ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity stomach(2) 2 TTCGCCTCCTCGGTCAGTCTC 0.706 NaN OREG0014157 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.004672 0 3 1 SLC41A1 254428 broad.mit.edu 37 1 205767810 205767810 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:205767810G>A uc001hdh.1 - 6 1703 c.831C>T c.(829-831)CTC>CTT p.L277L SLC41A1_uc001hdg.1_5'Flank|uc001hdi.1_5'Flank NM_173854 NP_776253 Q8IVJ1 S41A1_HUMAN solute carrier family 41 member 1 277 Helical; (Potential). integral to membrane|plasma membrane magnesium ion transmembrane transporter activity skin(2) 2 Breast(84;0.0799) BRCA - Breast invasive adenocarcinoma(75;0.0252) GTTCCAGGTAGAGTCCCCAGC 0.557 NaN 0 0 0 0.007413 0 19 87 MAPKAPK2 9261 broad.mit.edu 37 1 206904547 206904547 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:206904547C>T uc001hem.1 + 7 1118 c.832C>T c.(832-834)CGC>TGC p.R278C MAPKAPK2_uc001hel.1_Missense_Mutation_p.R278C NM_032960 NP_116584 P49137 MAPK2_HUMAN mitogen-activated protein kinase-activated 278 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) CATGAAGACTCGCATCCGAAT 0.537 NaN 0 0 0 0.010504 0 20 63 C4BPA 722 broad.mit.edu 37 1 207317297 207317297 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:207317297G>A uc001hfo.2 + 11 1773 c.1579G>A c.(1579-1581)GGG>AGG p.G527R NM_000715 NP_000706 P04003 C4BPA_HUMAN complement component 4 binding protein, alpha 527 Sushi 8. complement activation, classical pathway|innate immune response extracellular region protein binding large_intestine(1)|ovary(1)|central_nervous_system(1) 3 CACTTGCTCTGGGAACAGAAC 0.493 NaN 0 0 0 0.010818 0 32 51 NEK2 4751 broad.mit.edu 37 1 211842601 211842601 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:211842601C>T uc001hir.1 - 6 985 c.839G>A c.(838-840)AGA>AAA p.R280K NEK2_uc001hiq.1_Missense_Mutation_p.R280K|NEK2_uc001his.3_Missense_Mutation_p.R280K|NEK2_uc001hit.1_RNA NM_002497 NP_002488 P51955 NEK2_HUMAN NIMA-related kinase 2 280 Interaction with PCNT. cell division|centrosome separation|G2/M transition of mitotic cell cycle|meiosis|protein autophosphorylation|regulation of mitosis centrosome|condensed chromosome kinetochore|cytosol|nucleolus ATP binding|metal ion binding|protein binding|protein phosphatase binding|protein serine/threonine kinase activity breast(2)|stomach(1) 3 OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546) AAGATTTCTTCTTTGCTCGTC 0.408 NaN 0 0 0 0.00874 0 41 132 INTS7 25896 broad.mit.edu 37 1 212118233 212118233 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:212118233C>T uc001hiw.1 - 19 2599 c.2494G>A c.(2494-2496)GAG>AAG p.E832K INTS7_uc009xdb.1_Missense_Mutation_p.E812K|INTS7_uc001hix.1_Missense_Mutation_p.E708K|INTS7_uc001hiy.1_Missense_Mutation_p.E818K|INTS7_uc010pta.1_Missense_Mutation_p.E783K NM_015434 NP_056249 Q9NVH2 INT7_HUMAN integrator complex subunit 7 832 snRNA processing integrator complex protein binding 0 OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852) ACCACTCCCTCTACCTTTAGC 0.498 NaN 0 0 0 0.003954 0 26 80 USH2A 7399 broad.mit.edu 37 1 216019244 216019244 + Missense_Mutation SNP A A G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:216019244A>G uc001hku.1 - 45 9364 c.8977T>C c.(8977-8979)TAT>CAT p.Y2993H NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 2993 Fibronectin type-III 16.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) AAGATCCAATACTCTGTGTTT 0.433 NaN HNSCC(13;0.011) 0 0 0 0.003163 0 14 54 EPRS 2058 broad.mit.edu 37 1 220146632 220146632 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:220146632C>G uc001hly.1 - 29 4462 c.4192G>C c.(4192-4194)GAG>CAG p.E1398Q NM_004446 NP_004437 P07814 SYEP_HUMAN glutamyl-prolyl tRNA synthetase 1398 Prolyl-tRNA synthetase. glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly cytosol|soluble fraction ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(131;0.0735) L-Glutamic Acid(DB00142)|L-Proline(DB00172) AGTTTAGTCTCTGCCTCATTT 0.433 NaN 0 0 0 0.00874 0 42 60 HLX 3142 broad.mit.edu 37 1 221057702 221057702 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:221057702G>A uc001hmv.3 + 4 1580 c.1123G>A c.(1123-1125)GAG>AAG p.E375K NM_021958 NP_068777 Q14774 HLX_HUMAN H2.0-like homeobox 375 Ser-rich. cell differentiation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 GBM - Glioblastoma multiforme(131;0.00914) AGGCGAGGCTGAGAGCGAGAG 0.632 NaN 0 0 0 0.004007 0 11 13 DUSP10 11221 broad.mit.edu 37 1 221875931 221875931 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:221875931C>T uc001hmy.1 - 4 1454 c.1272G>A c.(1270-1272)ATG>ATA p.M424I DUSP10_uc001hmx.1_Missense_Mutation_p.M82I|DUSP10_uc001hmz.1_Missense_Mutation_p.M82I NM_007207 NP_009138 Q9Y6W6 DUS10_HUMAN dual specificity phosphatase 10 isoform a 424 Tyrosine-protein phosphatase. inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade Golgi apparatus|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity upper_aerodigestive_tract(1)|lung(1) 2 GBM - Glioblastoma multiforme(131;0.0103) GAGTGTGCTTCATCAAGTAAG 0.507 NaN 0 0 0 0.01441 0 92 59 NVL 4931 broad.mit.edu 37 1 224492452 224492452 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:224492452C>T uc001hok.2 - 8 854 c.811G>A c.(811-813)GAT>AAT p.D271N NVL_uc001hol.2_Missense_Mutation_p.D165N|NVL_uc010pvd.1_Missense_Mutation_p.D180N|NVL_uc010pve.1_Missense_Mutation_p.D55N|NVL_uc010pvf.1_RNA NM_002533 NP_002524 O15381 NVL_HUMAN nuclear VCP-like isoform 1 271 aggresome|cytoplasm|nucleolus ATP binding|nucleoside-triphosphatase activity skin(2) 2 GBM - Glioblastoma multiforme(131;0.00501) AATGTCATATCATTGCCTCCC 0.343 NaN 0 0 0 0.01441 0 45 216 OBSCN 84033 broad.mit.edu 37 1 228505341 228505341 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:228505341G>A uc009xez.1 + 52 13782 c.13738G>A c.(13738-13740)GAG>AAG p.E4580K OBSCN_uc001hsn.2_Missense_Mutation_p.E4580K NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 4580 Fibronectin type-III 3. 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) GCCTGGACCCGAGTGTGTGGT 0.687 NaN 0 0 0 0.008291 0 10 17 TRIM11 81559 broad.mit.edu 37 1 228582712 228582712 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:228582712C>T uc001hss.2 - 6 1356 c.1101G>A c.(1099-1101)GAG>GAA p.E367E TRIM11_uc010pvx.1_Silent_p.E366E NM_145214 NP_660215 Q96F44 TRI11_HUMAN tripartite motif-containing 11 367 B30.2/SPRY. response to virus cytoplasm|nucleus protein binding|zinc ion binding lung(3)|ovary(1) 4 Prostate(94;0.0724) GCTCGCCCTTCTCCTTCCTGT 0.647 NaN 0 0 0 0.003954 0 22 19 PGBD5 79605 broad.mit.edu 37 1 230486730 230486730 + Missense_Mutation SNP A A G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:230486730A>G uc010pwb.1 - 3 661 c.661T>C c.(661-663)TGT>CGT p.C221R PGBD5_uc001htv.2_Missense_Mutation_p.C320R NM_024554 NP_078830 Q8N414 PGBD5_HUMAN piggyBac transposable element derived 5 221 integral to membrane ovary(2)|central_nervous_system(1)|skin(1) 4 Breast(184;0.0397) Prostate(94;0.167) GBM - Glioblastoma multiforme(131;0.201) GTGGAAGAACATTGTCTGACC 0.567 NaN 0 0 0 0.003954 0 24 58 AGT 183 broad.mit.edu 37 1 230845940 230845940 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:230845940C>T uc001hty.3 - 2 1165 c.657G>A c.(655-657)CTG>CTA p.L219L AGT_uc009xfe.2_Silent_p.L219L|AGT_uc009xff.2_Silent_p.L191L NM_000029 NP_000020 P01019 ANGT_HUMAN angiotensinogen preproprotein 219 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation extracellular space|soluble fraction acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding 0 Breast(184;0.0735)|Ovarian(103;0.183) all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167) GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641) ACGGCTGCTTCAGGTGCAGGC 0.617 NaN 0 0 0 0.004007 0 16 23 GNG4 2786 broad.mit.edu 37 1 235747067 235747067 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:235747067C>G uc001hxe.3 - 3 526 c.72G>C c.(70-72)AAG>AAC p.K24N GNG4_uc009xfz.2_Missense_Mutation_p.K24N|GNG4_uc001hxh.3_Missense_Mutation_p.K24N NM_001098722 NP_001092192 P50150 GBG4_HUMAN guanine nucleotide binding protein (G protein), 24 cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|negative regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission heterotrimeric G-protein complex signal transducer activity 0 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00168)|Prostate(94;0.0776)|Acute lymphoblastic leukemia(190;0.23) OV - Ovarian serous cystadenocarcinoma(106;0.000882) AGGCTTCCATCTTTAGCTGCT 0.512 NaN 0 0 0 0.01441 0 79 69 GNG4 2786 broad.mit.edu 37 1 235747078 235747078 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:235747078C>T uc001hxe.3 - 3 515 c.61G>A c.(61-63)GAG>AAG p.E21K GNG4_uc009xfz.2_Missense_Mutation_p.E21K|GNG4_uc001hxh.3_Missense_Mutation_p.E21K NM_001098722 NP_001092192 P50150 GBG4_HUMAN guanine nucleotide binding protein (G protein), 21 cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|negative regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission heterotrimeric G-protein complex signal transducer activity 0 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00168)|Prostate(94;0.0776)|Acute lymphoblastic leukemia(190;0.23) OV - Ovarian serous cystadenocarcinoma(106;0.000882) TTTAGCTGCTCCACAGCTTTC 0.507 NaN 0 0 0 0.01441 0 89 76 NID1 4811 broad.mit.edu 37 1 236228224 236228224 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:236228224G>A uc001hxo.2 - 1 258 c.156C>T c.(154-156)TTC>TTT p.F52F NID1_uc009xgd.2_Silent_p.F52F|uc001hxp.1_Missense_Mutation_p.R122Q NM_002508 NP_002499 P14543 NID1_HUMAN nidogen 1 precursor 52 cell-matrix adhesion basement membrane calcium ion binding large_intestine(1)|pancreas(1) 2 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) CAGGAGAGACGAAGTCATCCC 0.697 NaN 0 0 0 0.010729 0 11 6 HEATR1 55127 broad.mit.edu 37 1 236738083 236738083 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:236738083C>G uc001hyd.1 - 23 3330 c.3205G>C c.(3205-3207)GAA>CAA p.E1069Q HEATR1_uc009xgh.1_Intron NM_018072 NP_060542 Q9H583 HEAT1_HUMAN protein BAP28 1069 rRNA processing nucleolus|ribonucleoprotein complex protein binding ovary(2)|skin(1) 3 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) ACTGAAAATTCATTATACTTT 0.428 NaN 0 0 0 0.00874 0 42 39 SDCCAG8 10806 broad.mit.edu 37 1 243480080 243480080 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:243480080C>T uc001hzw.2 + 9 1109 c.953C>T c.(952-954)GCA>GTA p.A318V SDCCAG8_uc010pyk.1_Missense_Mutation_p.A173V|SDCCAG8_uc010pyl.1_Missense_Mutation_p.A130V|SDCCAG8_uc001hzx.2_Missense_Mutation_p.A130V NM_006642 NP_006633 Q86SQ7 SDCG8_HUMAN serologically defined colon cancer antigen 8 318 Sufficient for homodimerization (By similarity). 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) TTGATGTCTGCACTAGTTTCC 0.413 NaN 0 0 0 0.00632 0 28 50 ZNF238 10472 broad.mit.edu 37 1 244218572 244218572 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:244218572G>C uc001iae.2 + 1 1991 c.1469G>C c.(1468-1470)TGT>TCT p.C490S ZNF238_uc001iad.3_Missense_Mutation_p.C499S|ZNF238_uc001iaf.1_3'UTR NM_006352 NP_006343 Q99592 ZN238_HUMAN zinc finger protein 238 isoform 2 490 negative regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development nuclear chromosome sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3)|pancreas(2) 5 all_cancers(71;6.42e-05)|all_epithelial(71;7e-05)|Breast(184;0.0333)|Ovarian(71;0.0619)|all_lung(81;0.089)|all_neural(11;0.101)|Lung NSC(105;0.123) all cancers(7;1.35e-08)|GBM - Glioblastoma multiforme(7;1e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00223) AAGTTCCACTGTGAGTTGGTG 0.547 NaN 0 0 0 0.014323 0 21 71 KIF26B 55083 broad.mit.edu 37 1 245851077 245851077 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:245851077C>G uc001ibf.1 + 12 5232 c.4792C>G c.(4792-4794)CTG>GTG p.L1598V KIF26B_uc001ibg.1_Missense_Mutation_p.L1216V|KIF26B_uc001ibh.1_Missense_Mutation_p.L840V NM_018012 NP_060482 Q2KJY2 KI26B_HUMAN kinesin family member 26B 1598 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) GACTCCCCCTCTGCCCCCTGT 0.687 NaN 0 0 0 0.004672 0 3 1 TFB2M 64216 broad.mit.edu 37 1 246729307 246729307 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:246729307G>A uc001ibn.2 - 1 259 c.134C>T c.(133-135)TCT>TTT p.S45F CNST_uc001ibo.3_5'Flank|CNST_uc001ibp.2_5'Flank|TFB2M_uc010pys.1_RNA NM_022366 NP_071761 Q9H5Q4 TFB2M_HUMAN transcription factor B2, mitochondrial 45 positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter mitochondrial nucleoid protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity ovary(1) 1 all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376) OV - Ovarian serous cystadenocarcinoma(106;0.00358) AGAGGAGTCAGAGAGCCCACA 0.592 NaN 0 0 0 0.003163 0 14 60 TRIM58 25893 broad.mit.edu 37 1 248039263 248039263 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:248039263C>T uc001ido.2 + 6 981 c.933C>T c.(931-933)CGC>CGT p.R311R OR2W3_uc001idp.1_5'UTR NM_015431 NP_056246 Q8NG06 TRI58_HUMAN tripartite motif-containing 58 311 B30.2/SPRY. intracellular zinc ion binding p.R311C(1) skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1) 7 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;0.0286) OV - Ovarian serous cystadenocarcinoma(106;0.0319) CCGACCTGCGCAGTGTGCAGG 0.572 NaN 0 0 0 0.00499 0 16 30 OR2T3 343173 broad.mit.edu 37 1 248637237 248637237 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:248637237G>A uc001iel.1 + 1 586 c.586G>A c.(586-588)GAC>AAC p.D196N NM_001005495 NP_001005495 Q8NH03 OR2T3_HUMAN olfactory receptor, family 2, subfamily T, 196 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CTCCTGCTCTGACGTCTCCCT 0.522 NaN 0 0 0 0.01441 0 76 93 AKR1E2 83592 broad.mit.edu 37 10 4875593 4875593 + Missense_Mutation SNP A A G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr10:4875593A>G uc001ihi.2 + 3 374 c.259A>G c.(259-261)AGT>GGT p.S87G AKR1E2_uc001ihl.1_RNA|AKR1E2_uc010qam.1_Intron|AKR1E2_uc001ihh.1_Missense_Mutation_p.S87G|AKR1E2_uc009xhw.2_Missense_Mutation_p.S87G|AKR1E2_uc001ihj.2_RNA|AKR1E2_uc001ihk.2_Missense_Mutation_p.S87G NM_001040177 NP_001035267 Q96JD6 AKCL2_HUMAN aldo-keto reductase family 1, member E2 87 cytoplasm 1,5-anhydro-D-fructose reductase activity 0 ATGCAGAAAGAGTCTCAAGGC 0.527 NaN 0 0 0 0.006214 0 9 425 AKR1C1 1645 broad.mit.edu 37 10 5009208 5009208 + Silent SNP C C T rs138894545 by1000genomes TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr10:5009208C>T uc001iho.2 + 8 1183 c.342C>T c.(340-342)TAC>TAT p.Y114Y AKR1E2_uc001ihl.1_Intron|AKR1C2_uc010qan.1_Intron|AKR1C3_uc001ihr.2_Intron|AKR1C1_uc009xhx.2_Silent_p.Y114Y|AKR1C1_uc001ihq.2_Silent_p.Y114Y NM_001353 NP_001344 Q04828 AK1C1_HUMAN aldo-keto reductase family 1, member C1 114 bile acid and bile salt transport|bile acid metabolic process|cholesterol homeostasis|intestinal cholesterol absorption|protein homooligomerization|response to organophosphorus|xenobiotic metabolic process cytosol 17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid binding|indanol dehydrogenase activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity ovary(2) 2 NADH(DB00157) TTGACCTCTACCTTATTCATT 0.383 NaN 0 0 0 0.012319 0 5 191 FRMD4A 55691 broad.mit.edu 37 10 13708121 13708121 + Nonsense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr10:13708121G>A uc001ims.2 - 18 1931 c.1579C>T c.(1579-1581)CAG>TAG p.Q527* FRMD4A_uc009xjf.1_Nonsense_Mutation_p.Q527*|FRMD4A_uc001imt.1_Nonsense_Mutation_p.Q560* NM_018027 NP_060497 Q9P2Q2 FRM4A_HUMAN FERM domain containing 4A 527 cytoplasm|cytoskeleton binding ovary(1)|skin(1)|pancreas(1) 3 GAAGCCCTCTGGGTGGGTTTC 0.567 NaN 0 0 0 0.01441 0 116 109 PTPLA 9200 broad.mit.edu 37 10 17641359 17641359 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr10:17641359C>T uc001ipg.2 - 5 570 c.535G>A c.(535-537)GAG>AAG p.E179K NM_014241 NP_055056 B0YJ81 HACD1_HUMAN protein tyrosine phosphatase-like, member A 179 Helical; (Potential). fatty acid biosynthetic process|multicellular organismal development|signal transduction endoplasmic reticulum membrane|integral to membrane lyase activity|protein tyrosine phosphatase activity central_nervous_system(1)|skin(1) 2 CGAGTGATCTCTGTCACAGTC 0.443 NaN 0 0 0 0.007413 0 17 31 PLXDC2 84898 broad.mit.edu 37 10 20436813 20436813 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr10:20436813C>T uc001iqg.1 + 6 1402 c.765C>T c.(763-765)ATC>ATT p.I255I PLXDC2_uc001iqh.1_Silent_p.I206I|PLXDC2_uc009xkc.1_RNA NM_032812 NP_116201 Q6UX71 PXDC2_HUMAN plexin domain containing 2 precursor 255 Extracellular (Potential). integral to membrane ovary(2)|central_nervous_system(1)|skin(1) 4 ATGGACGAATCATCTTTGGAT 0.453 NaN 0 0 0 0.014323 0 21 48 C10orf114 399726 broad.mit.edu 37 10 21785724 21785724 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr10:21785724G>A uc001iqn.3 - 1 490 c.20C>T c.(19-21)TCA>TTA p.S7L MIR1915_hsa-mir-1915|MI0008336_5'Flank NM_001010911 NP_001010911 Q5T4H9 CJ114_HUMAN hypothetical protein LOC399726 7 0 GCGCCACCCTGAGGGCTCCCG 0.647 NaN 0 0 0 0.000602 0 3 9 C10orf140 387640 broad.mit.edu 37 10 21804624 21804624 + Missense_Mutation SNP C C T rs35145063 TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr10:21804624C>T uc009xkd.2 - 4 4381 c.2128G>A c.(2128-2130)GAG>AAG p.E710K uc001iqp.1_Intron NM_207371 NP_997254 Q1XH10 DLN1_HUMAN hypothetical protein LOC387640 629 nucleus nucleotide binding ovary(1) 1 TCATTGCACTCGCACTTTAGC 0.393 NaN 0 0 0 0.01441 0 162 174 KIAA1217 56243 broad.mit.edu 37 10 24832553 24832553 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr10:24832553G>A uc001iru.3 + 19 4757 c.4354G>A c.(4354-4356)GAC>AAC p.D1452N KIAA1217_uc001irs.2_Intron|KIAA1217_uc001irt.3_Intron|KIAA1217_uc010qcy.1_Intron|KIAA1217_uc010qcz.1_Intron|KIAA1217_uc001irw.2_Intron|KIAA1217_uc001irz.2_Intron|KIAA1217_uc001irx.2_Missense_Mutation_p.D1135N|KIAA1217_uc001iry.2_Intron|KIAA1217_uc001isa.1_Missense_Mutation_p.D288N NM_019590 NP_062536 Q5T5P2 SKT_HUMAN sickle tail isoform 1 1452 embryonic skeletal system development cytoplasm ovary(5)|skin(2) 7 TGAGCCCATGGACATCCGGTC 0.393 NaN 0 0 0 0.013114 0 44 46 ACBD5 91452 broad.mit.edu 37 10 27524079 27524079 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr10:27524079C>T uc010qdp.1 - 3 435 c.244G>A c.(244-246)GAA>AAA p.E82K ACBD5_uc010qdm.1_Missense_Mutation_p.E80K|ACBD5_uc010qdn.1_Intron|ACBD5_uc010qdo.1_Intron|ACBD5_uc001ito.2_Missense_Mutation_p.E47K|ACBD5_uc001itp.2_Intron|ACBD5_uc001itq.2_Intron|ACBD5_uc001itr.1_Intron NM_145698 NP_663736 Q5T8D3 ACBD5_HUMAN acyl-Coenzyme A binding domain containing 5 80 ACB. transport integral to membrane|peroxisomal membrane fatty-acyl-CoA binding 0 CAGGGTCCTTCAGTTGCCTGC 0.343 NaN 0 0 0 0.012319 0 23 58 SVIL 6840 broad.mit.edu 37 10 29811369 29811369 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr10:29811369G>A uc001iut.1 - 16 4112 c.3359C>T c.(3358-3360)TCA>TTA p.S1120L SVIL_uc010qdw.1_Missense_Mutation_p.S18L|SVIL_uc001iuu.1_Missense_Mutation_p.S694L NM_021738 NP_068506 O95425 SVIL_HUMAN supervillin isoform 2 1120 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) TTTGCTGGGTGAGTCAAGAAG 0.468 NaN 0 0 0 0.013726 0 32 30 GJD4 219770 broad.mit.edu 37 10 35894525 35894525 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr10:35894525C>T uc001iyy.1 + 1 188 c.30C>T c.(28-30)CTC>CTT p.L10L NM_153368 NP_699199 Q96KN9 CXD4_HUMAN connexin40.1 10 Cytoplasmic (Potential). cell communication connexon complex|integral to membrane large_intestine(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 TAGGGTTTCTCATCATCACAT 0.517 NaN 0 0 0 0.001855 0 12 34 ANKRD30A 91074 broad.mit.edu 37 10 37508401 37508401 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr10:37508401C>T uc001iza.1 + 34 3692 c.3593C>T c.(3592-3594)TCT>TTT p.S1198F NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 1254 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 CAACCACTTTCTGAAGCTCAA 0.373 NaN 0 0 0 0.01441 0 55 43 BMS1 9790 broad.mit.edu 37 10 43292488 43292488 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr10:43292488C>T uc001jaj.2 + 10 2154 c.1796C>T c.(1795-1797)TCA>TTA p.S599L NM_014753 NP_055568 Q14692 BMS1_HUMAN BMS1-like, ribosome assembly protein 599 ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity ovary(2)|upper_aerodigestive_tract(1) 3 GAAAGCTCCTCACTCAGTGCA 0.458 NaN 0 0 0 0.01441 0 86 80 RET 5979 broad.mit.edu 37 10 43612094 43612094 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr10:43612094C>T uc001jal.2 + 12 2389 c.2199C>T c.(2197-2199)GGC>GGT p.G733G RET_uc001jak.1_Silent_p.G733G|RET_uc010qez.1_Silent_p.G479G NM_020975 NP_066124 P07949 RET_HUMAN ret proto-oncogene isoform a 733 Protein kinase.|ATP (By similarity).|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 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) TAGGAGAAGGCGAATTTGGAA 0.527 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 0.01441 0 41 256 CSGALNACT2 55454 broad.mit.edu 37 10 43651198 43651198 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr10:43651198G>A uc001jan.2 + 2 936 c.601G>A c.(601-603)GAA>AAA p.E201K CSGALNACT2_uc001jam.1_Missense_Mutation_p.E201K NM_018590 NP_061060 Q8N6G5 CGAT2_HUMAN chondroitin sulfate 201 Lumenal (Potential). chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process Golgi cisterna membrane|integral to Golgi membrane glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding ovary(1) 1 TGATGAACAAGAAGATGAGGA 0.363 NaN 0 0 0 0.005524 0 37 90 TMEM72 643236 broad.mit.edu 37 10 45430175 45430175 + Missense_Mutation SNP G G A rs140679942 by1000genomes TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr10:45430175G>A uc001jbn.2 + 5 618 c.421G>A c.(421-423)GAG>AAG p.E141K uc001jbk.1_Intron|uc001jbl.2_Intron|TMEM72_uc009xmm.1_Missense_Mutation_p.E23K NM_001123376 NP_001116848 A0PK05 TMM72_HUMAN transmembrane protein 72 141 integral to membrane 0 AGCTGCCCCCGAGGTGCTGGC 0.602 NaN 0 0 0 0.005524 0 33 194 SYT15 83849 broad.mit.edu 37 10 46963894 46963894 + Missense_Mutation SNP C C T rs2484844 TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr10:46963894C>T uc001jea.2 - 7 1222 c.1069G>A c.(1069-1071)GAG>AAG p.E357K SYT15_uc001jdz.2_Missense_Mutation_p.E357K|SYT15_uc001jeb.2_Missense_Mutation_p.E235K|SYT15_uc010qfp.1_RNA NM_031912 NP_114118 Q9BQS2 SYT15_HUMAN synaptotagmin XV isoform a 357 Cytoplasmic (Potential).|C2 2. integral to membrane|plasma membrane 0 GTATCCAGCTCGGTGGCATCG 0.567 NaN 0 0 0 0.000602 0 5 96 GDF2 2658 broad.mit.edu 37 10 48416478 48416478 + Silent SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr10:48416478C>G uc001jfa.1 - 1 379 c.216G>C c.(214-216)CTG>CTC p.L72L NM_016204 NP_057288 Q9UK05 GDF2_HUMAN growth differentiation factor 2 precursor 72 activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity ovary(2)|skin(1) 3 GGACCCCACTCAGGTTAAGGC 0.577 NaN 0 0 0 0.008871 0 18 65 GDF2 2658 broad.mit.edu 37 10 48416501 48416501 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr10:48416501C>G uc001jfa.1 - 1 356 c.193G>C c.(193-195)GAT>CAT p.D65H NM_016204 NP_057288 Q9UK05 GDF2_HUMAN growth differentiation factor 2 precursor 65 activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity ovary(2)|skin(1) 3 CGCAGGAAATCCACCTTCACG 0.587 NaN 0 0 0 0.006122 0 18 67 DKK1 22943 broad.mit.edu 37 10 54076536 54076536 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr10:54076536C>T uc001jjr.2 + 4 924 c.770C>T c.(769-771)TCT>TTT p.S257F uc001jjq.1_5'Flank|uc009xox.1_5'Flank NM_012242 NP_036374 O94907 DKK1_HUMAN dickkopf homolog 1 precursor 257 DKK-type Cys-2. negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization extracellular space|plasma membrane growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity ovary(1)|lung(1)|kidney(1) 3 GCCAGTAATTCTTCTAGGCTT 0.403 NaN 0 0 0 0.01441 0 59 39 ARID5B 84159 broad.mit.edu 37 10 63700148 63700148 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr10:63700148C>T uc001jlt.1 + 3 509 c.483C>T c.(481-483)CTC>CTT p.L161L ARID5B_uc010qil.1_Silent_p.L161L NM_032199 NP_115575 Q14865 ARI5B_HUMAN AT rich interactive domain 5B (MRF1-like) 161 liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent protein binding|transcription regulatory region DNA binding ovary(2)|upper_aerodigestive_tract(1)|kidney(1) 4 Prostate(12;0.016)|all_hematologic(501;0.215) AAGACGTTCTCAAGGAGAAGG 0.418 NaN 0 0 0 0.007413 0 18 15 JMJD1C 221037 broad.mit.edu 37 10 64967741 64967741 + Missense_Mutation SNP G G T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr10:64967741G>T uc001jmn.2 - 10 3988 c.3688C>A c.(3688-3690)CCA>ACA p.P1230T JMJD1C_uc001jml.2_Missense_Mutation_p.P1011T|JMJD1C_uc001jmm.2_Missense_Mutation_p.P942T|JMJD1C_uc010qiq.1_Missense_Mutation_p.P1048T|JMJD1C_uc009xpi.2_Missense_Mutation_p.P1048T|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc009xpk.1_Missense_Mutation_p.P267T NM_032776 NP_116165 Q15652 JHD2C_HUMAN jumonji domain containing 1C isoform a 1230 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) GTTAAAGTTGGAGGGGAAAGA 0.468 NaN 1 0 4.87955e-14 0.005443 5.11775e-14 27 102 JMJD1C 221037 broad.mit.edu 37 10 64974489 64974489 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr10:64974489G>A uc001jmn.2 - 8 1738 c.1438C>T c.(1438-1440)CCT>TCT p.P480S JMJD1C_uc001jml.2_Missense_Mutation_p.P261S|JMJD1C_uc001jmm.2_Missense_Mutation_p.P192S|JMJD1C_uc010qiq.1_Missense_Mutation_p.P298S|JMJD1C_uc009xpi.2_Missense_Mutation_p.P298S|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc001jmp.1_Missense_Mutation_p.P192S NM_032776 NP_116165 Q15652 JHD2C_HUMAN jumonji domain containing 1C isoform a 480 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) CATTCCTGAGGAAGTAAATCA 0.373 NaN 0 0 0 0.01441 0 61 190 NEUROG3 50674 broad.mit.edu 37 10 71332454 71332454 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr10:71332454C>T uc001jpp.2 - 2 504 c.346G>A c.(346-348)GAC>AAC p.D116N NM_020999 NP_066279 Q9Y4Z2 NGN3_HUMAN neurogenin 3 116 Helix-loop-helix motif. central nervous system development|endocrine pancreas development|peripheral nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity nucleus transcription coactivator activity 0 AGCTTCGCGTCGTCTGGGAAG 0.622 NaN 0 0 0 0.001984 0 7 21 TYSND1 219743 broad.mit.edu 37 10 71902546 71902546 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr10:71902546G>A uc001jqr.2 - 3 1515 c.1361C>T c.(1360-1362)TCA>TTA p.S454L TYSND1_uc001jqq.2_RNA|TYSND1_uc001jqs.2_Intron|TYSND1_uc001jqt.2_Intron NM_173555 NP_775826 Q2T9J0 TYSD1_HUMAN trypsin domain containing 1 isoform a 454 Serine protease. proteolysis peroxisome serine-type endopeptidase activity large_intestine(1) 1 AAGGATGCCTGAGGTCACCGA 0.642 NaN 0 0 0 0.001168 0 6 20 SLC29A3 55315 broad.mit.edu 37 10 73082533 73082533 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr10:73082533G>A uc001jrr.3 + 2 79 c.22G>A c.(22-24)GAC>AAC p.D8N SLC29A3_uc001jrs.3_Missense_Mutation_p.D8N|SLC29A3_uc010qjq.1_5'UTR|SLC29A3_uc001jrt.3_5'UTR|SLC29A3_uc001jru.3_5'UTR NM_018344 NP_060814 Q9BZD2 S29A3_HUMAN solute carrier family 29 (nucleoside 8 Cytoplasmic (Potential). nucleobase, nucleoside and nucleotide metabolic process integral to membrane|late endosome membrane|lysosomal membrane nucleoside transmembrane transporter activity 0 CTCAGAGGACGACTTTCAGCA 0.597 NaN 0 0 0 0.00278 0 22 85 NDST2 8509 broad.mit.edu 37 10 75567514 75567514 + Silent SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr10:75567514G>C uc001jvk.2 - 3 1437 c.633C>G c.(631-633)CTC>CTG p.L211L NDST2_uc010qks.1_5'Flank|NDST2_uc010qkt.1_Silent_p.L88L|NDST2_uc009xro.2_5'Flank|NDST2_uc010qku.1_Silent_p.L88L NM_003635 NP_003626 P52849 NDST2_HUMAN heparan glucosaminyl 211 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) TGGGGCGTGTGAGATGCAGTA 0.552 NaN 0 0 0 0.004482 0 9 42 ADK 132 broad.mit.edu 37 10 75960592 75960592 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr10:75960592G>A uc001jwi.2 + 2 208 c.136G>A c.(136-138)GAT>AAT p.D46N ADK_uc010qlb.1_Missense_Mutation_p.D46N|ADK_uc001jwj.2_Missense_Mutation_p.D29N|ADK_uc010qlc.1_Missense_Mutation_p.D29N NM_006721 NP_006712 P55263 ADK_HUMAN adenosine kinase isoform b 46 purine base metabolic process|purine ribonucleoside salvage cytosol adenosine kinase activity|ATP binding|metal ion binding|phosphotransferase activity, alcohol group as acceptor ovary(1)|skin(1) 2 Prostate(51;0.0112)|Ovarian(15;0.148) Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Pegademase bovine(DB00061)|Ribavirin(DB00811) AGATTTCCTTGATAAGTAAGT 0.328 NaN 0 0 0 0.001855 0 13 42 WAPAL 23063 broad.mit.edu 37 10 88260375 88260375 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr10:88260375C>T uc001kdo.2 - 3 1067 c.625G>A c.(625-627)GAT>AAT p.D209N WAPAL_uc001kdn.2_Missense_Mutation_p.D252N|WAPAL_uc009xsw.2_Missense_Mutation_p.D209N NM_015045 NP_055860 Q7Z5K2 WAPL_HUMAN wings apart-like homolog 209 Mediates interaction with the cohesin complex. cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin chromatin|cohesin complex|cytoplasm protein binding ovary(1) 1 TTCCAAGTATCATTTGTTTCC 0.378 NaN 0 0 0 0.007835 0 41 138 LDB3 11155 broad.mit.edu 37 10 88439133 88439133 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr10:88439133G>A uc001kdv.2 + 2 126 c.103G>A c.(103-105)GGC>AGC p.G35S LDB3_uc010qml.1_Missense_Mutation_p.G35S|LDB3_uc010qmm.1_Missense_Mutation_p.G35S|LDB3_uc001kdu.2_Missense_Mutation_p.G35S|LDB3_uc009xsz.2_5'UTR|LDB3_uc001kdr.2_Missense_Mutation_p.G35S|LDB3_uc009xsy.2_Missense_Mutation_p.G35S|LDB3_uc001kds.2_Missense_Mutation_p.G35S|LDB3_uc001kdt.2_RNA NM_007078 NP_009009 O75112 LDB3_HUMAN LIM domain binding 3 isoform 1 35 PDZ. cytoskeleton|perinuclear region of cytoplasm|pseudopodium zinc ion binding ovary(1) 1 GATCACACCAGGCAGCAAGGC 0.587 NaN 0 0 0 0.005443 0 26 27 MMRN2 79812 broad.mit.edu 37 10 88696506 88696506 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr10:88696506C>T uc001kea.2 - 7 2971 c.2844G>A c.(2842-2844)AAG>AAA p.K948K MMRN2_uc010qmn.1_Silent_p.K591K NM_024756 NP_079032 Q9H8L6 MMRN2_HUMAN multimerin 2 precursor 948 C1q. extracellular space large_intestine(1) 1 GGGTTCAGGTCTTAAACATCA 0.552 NaN 0 0 0 0.01441 0 87 65 HTR7 3363 broad.mit.edu 37 10 92617043 92617043 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr10:92617043G>C uc001kha.2 - 1 629 c.386C>G c.(385-387)TCG>TGG p.S129W HTR7_uc001kgz.2_Missense_Mutation_p.S129W|HTR7_uc001khb.2_Missense_Mutation_p.S129W NM_019859 NP_062873 P34969 5HT7R_HUMAN 5-hydroxytryptamine receptor 7 isoform d 129 Helical; Name=2; (By similarity). blood circulation|circadian rhythm integral to plasma membrane protein binding|serotonin receptor activity ovary(1) 1 Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246) CACAGCCACCGAGAGGTCGGC 0.597 NaN 0 0 0 0.008291 0 10 48 PDE6C 5146 broad.mit.edu 37 10 95400233 95400233 + Silent SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr10:95400233G>C uc001kiu.3 + 13 1794 c.1656G>C c.(1654-1656)GTG>GTC p.V552V NM_006204 NP_006195 P51160 PDE6C_HUMAN phosphodiesterase 6C 552 visual perception plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding ovary(2)|kidney(1)|skin(1) 4 Colorectal(252;0.123) TGTACACTGTGAGGAAAGGGT 0.448 NaN 0 0 0 0.00874 0 40 113 CYP2C9 1559 broad.mit.edu 37 10 96698472 96698472 + Silent SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr10:96698472C>G uc001kka.3 + 1 58 c.33C>G c.(31-33)CTC>CTG p.L11L CYP2C9_uc009xut.2_Silent_p.L11L|CYP2C9_uc001kjz.2_Silent_p.L11L NM_000771 NP_000762 P11712 CP2C9_HUMAN cytochrome P450, family 2, subfamily C, 11 exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity skin(4)|ovary(2) 6 Colorectal(252;0.0902) all cancers(201;6.93e-05) Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744) TGCTCTGTCTCTCATGTTTGC 0.478 NaN 0 0 0 0.01441 0 171 160 ENTPD1 953 broad.mit.edu 37 10 97607265 97607265 + Silent SNP C C T rs149509898 by1000genomes TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr10:97607265C>T uc001klh.3 + 7 1200 c.876C>T c.(874-876)AAC>AAT p.N292N ENTPD1_uc001kli.3_Silent_p.N299N|uc001klg.1_Intron|ENTPD1_uc010qoj.1_Silent_p.N304N|ENTPD1_uc010qok.1_Silent_p.N184N|ENTPD1_uc010qol.1_Silent_p.N184N|ENTPD1_uc010qom.1_Intron|ENTPD1_uc010qon.1_Silent_p.N154N|ENTPD1_uc009xva.2_Silent_p.N154N|ENTPD1_uc009xuz.2_Intron NM_001776 NP_001767 P49961 ENTP1_HUMAN ectonucleoside triphosphate diphosphohydrolase 1 292 Extracellular (Potential). cell adhesion integral to plasma membrane ATP binding ovary(3) 3 Colorectal(252;0.0821) Epithelial(162;1.31e-07)|all cancers(201;5.33e-06) AGGTAGTGAACGTAAGTGACC 0.418 NaN 0 0 0 0.003271 0 35 100 BLNK 29760 broad.mit.edu 37 10 97964290 97964290 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr10:97964290C>T uc001kls.3 - 12 1078 c.900G>A c.(898-900)CAG>CAA p.Q300Q BLNK_uc001kme.3_Silent_p.Q195Q|BLNK_uc001klt.3_Silent_p.Q191Q|BLNK_uc009xvc.2_RNA|BLNK_uc001klu.3_Silent_p.Q218Q|BLNK_uc001klv.3_Silent_p.Q195Q|BLNK_uc001klw.3_RNA|BLNK_uc001klx.3_Silent_p.Q277Q|BLNK_uc001kly.3_Silent_p.Q300Q|BLNK_uc001klz.3_RNA|BLNK_uc001kma.3_Silent_p.Q277Q|BLNK_uc001kmb.3_Silent_p.Q96Q|BLNK_uc001kmc.3_RNA|BLNK_uc001kmd.3_Silent_p.Q218Q|BLNK_uc009xvd.2_RNA NM_013314 NP_037446 Q8WV28 BLNK_HUMAN B-cell linker isoform 1 300 B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction cytoplasm|plasma membrane SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity skin(2) 2 Colorectal(252;0.083) Epithelial(162;7.89e-08)|all cancers(201;2.27e-06) ATTCTTACTTCTGGGCAGGAG 0.448 NaN 0 0 0 0.01441 0 46 69 TLL2 7093 broad.mit.edu 37 10 98144396 98144396 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr10:98144396G>A uc001kml.1 - 16 2368 c.2142C>T c.(2140-2142)TTC>TTT p.F714F NM_012465 NP_036597 Q9Y6L7 TLL2_HUMAN tolloid-like 2 precursor 714 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) TGTCGGACTTGAACTCCACGC 0.637 NaN 0 0 0 0.009535 0 29 83 TM9SF3 56889 broad.mit.edu 37 10 98336574 98336574 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr10:98336574C>G uc001kmm.3 - 2 332 c.115G>C c.(115-117)GAG>CAG p.E39Q TM9SF3_uc010qot.1_Missense_Mutation_p.E39Q NM_020123 NP_064508 Q9HD45 TM9S3_HUMAN transmembrane 9 superfamily member 3 precursor 39 integral to membrane binding 0 Colorectal(252;0.158) Epithelial(162;1.84e-09)|all cancers(201;2.84e-08) ACAACTTCCTCTTTATCTTGA 0.313 NaN 0 0 0 0.00333 0 24 62 LOXL4 84171 broad.mit.edu 37 10 100022549 100022549 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr10:100022549G>A uc001kpa.1 - 2 379 c.228C>T c.(226-228)TTC>TTT p.F76F NM_032211 NP_115587 Q96JB6 LOXL4_HUMAN lysyl oxidase-like 4 precursor 76 SRCR 1. extracellular space|membrane copper ion binding|protein binding|scavenger receptor activity ovary(3)|breast(1)|skin(1) 5 Colorectal(252;0.234) Epithelial(162;2.14e-11)|all cancers(201;2.49e-09) AGGCAGCTTCGAAGCCCAGCT 0.622 NaN OREG0020428 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.010818 0 31 27 CUTC 51076 broad.mit.edu 37 10 101514304 101514304 + Missense_Mutation SNP G G T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr10:101514304G>T uc001kqd.3 + 8 768 c.620G>T c.(619-621)AGA>ATA p.R207I CUTC_uc001kqe.3_RNA NM_015960 NP_057044 Q9NTM9 CUTC_HUMAN cutC copper transporter homolog 207 copper ion homeostasis|copper ion transport|protein tetramerization cytoplasm|nucleus copper ion binding breast(1) 1 Colorectal(252;0.234) Epithelial(162;3e-10)|all cancers(201;2.37e-08) ATAACAGACAGAAATCTACAA 0.363 NaN 1 0 2.80266e-47 0.01441 2.98126e-47 81 221 ABCC2 1244 broad.mit.edu 37 10 101594192 101594192 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr10:101594192G>A uc001kqf.2 + 24 3453 c.3314G>A c.(3313-3315)TGC>TAC p.C1105Y NM_000392 NP_000383 Q92887 MRP2_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), 1105 ABC transmembrane type-1 2.|Helical; Name=14; (By similarity). apical plasma membrane|integral to plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity ovary(1) 1 Colorectal(252;0.234) Epithelial(162;2.77e-10)|all cancers(201;2.47e-08) Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) TGGATTACATGCTTCCTGGGG 0.473 NaN 0 0 0 0.01441 0 87 96 CHUK 1147 broad.mit.edu 37 10 101959727 101959727 + Splice_Site SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr10:101959727C>T uc001kqp.2 - 16 1784 c.1729_splice c.e16+1 p.D577_splice NM_001278 NP_001269 O15111 IKKA_HUMAN conserved helix-loop-helix ubiquitous kinase I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus ATP binding|identical protein binding|IkappaB kinase activity ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|breast(1) 7 Colorectal(252;0.117) Epithelial(162;2.05e-10)|all cancers(201;1.91e-08) AAGTGTCTTACCTGAAGGTCT 0.348 NaN 0 0 0 0.014323 0 24 96 MRPL43 84545 broad.mit.edu 37 10 102746534 102746534 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr10:102746534C>T uc001kry.1 - 3 509 c.437G>A c.(436-438)CGA>CAA p.R146Q MRPL43_uc010qpu.1_Missense_Mutation_p.R146Q|MRPL43_uc001krz.1_Intron|MRPL43_uc001ksa.1_Missense_Mutation_p.R146Q|MRPL43_uc001ksb.1_Missense_Mutation_p.R146Q|MRPL43_uc001ksd.1_Missense_Mutation_p.R146Q|MRPL43_uc001ksc.2_Missense_Mutation_p.R146Q|MRPL43_uc001kse.2_Missense_Mutation_p.R184Q|C10orf2_uc001ksg.2_5'Flank|C10orf2_uc001ksf.2_5'Flank|C10orf2_uc001ksi.2_5'Flank|C10orf2_uc010qpv.1_5'Flank|C10orf2_uc001ksh.2_5'Flank NM_176792 NP_789762 Q8N983 RM43_HUMAN mitochondrial ribosomal protein L43 isoform b 146 translation mitochondrial ribosome protein binding|structural constituent of ribosome skin(1) 1 Colorectal(252;0.234) Epithelial(162;6.21e-09)|all cancers(201;3.14e-07) CTGAACCTCTCGGGGGCGTAG 0.627 NaN 0 0 0 0.001855 0 12 39 KCNIP2 30819 broad.mit.edu 37 10 103588903 103588903 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr10:103588903G>A uc001kub.2 - 4 629 c.277C>T c.(277-279)CTG>TTG p.L93L KCNIP2_uc010qqg.1_5'Flank|KCNIP2_uc001ktx.2_RNA|KCNIP2_uc001kty.2_Silent_p.V14V|KCNIP2_uc001ktz.2_Silent_p.L48L|KCNIP2_uc009xwu.2_Silent_p.L43L|KCNIP2_uc009xwv.2_Silent_p.L43L|KCNIP2_uc001kuc.2_Silent_p.L108L|KCNIP2_uc001kue.2_Silent_p.L75L|KCNIP2_uc001kud.2_Silent_p.L43L|KCNIP2_uc001kuf.2_Silent_p.L43L|KCNIP2_uc001kua.2_Silent_p.V14V|KCNIP2_uc009xww.2_RNA|KCNIP2_uc010qqh.1_Silent_p.L48L|KCNIP2_uc010qqi.1_Silent_p.L43L NM_173191 NP_775283 Q9NS61 KCIP2_HUMAN Kv channel interacting protein 2 isoform 2 93 EF-hand 1; degenerate. clustering of voltage-gated potassium channels|detection of calcium ion|muscle contraction|regulation of heart contraction|signal transduction|synaptic transmission cytoplasm|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|calcium ion binding|ER retention sequence binding|identical protein binding|protein N-terminus binding 0 Colorectal(252;0.122) Epithelial(162;4.93e-09)|all cancers(201;2.63e-07) AGCTGCTCCAGACCCTCAGGC 0.617 NaN 0 0 0 0.001168 0 5 22 CNNM2 54805 broad.mit.edu 37 10 104679815 104679815 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr10:104679815C>T uc001kwm.2 + 1 1702 c.1578C>T c.(1576-1578)TTC>TTT p.F526F CNNM2_uc001kwn.2_Silent_p.F526F|CNNM2_uc001kwl.2_Silent_p.F526F NM_017649 NP_060119 Q9H8M5 CNNM2_HUMAN cyclin M2 isoform 1 526 CBS 2. ion transport integral to membrane ovary(1)|central_nervous_system(1) 2 Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198) Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) ACTTTGTTTTCAATGACACCA 0.453 NaN 0 0 0 0.01441 0 51 122 ADD3 120 broad.mit.edu 37 10 111881975 111881975 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr10:111881975G>A uc001kyt.3 + 10 1382 c.1068G>A c.(1066-1068)GTG>GTA p.V356V ADD3_uc001kys.3_Silent_p.V356V|ADD3_uc001kyu.2_Silent_p.V356V|ADD3_uc001kyv.2_Silent_p.V356V|ADD3_uc001kyw.2_Silent_p.V356V|ADD3_uc001kyx.2_5'Flank NM_016824 NP_058432 Q9UEY8 ADDG_HUMAN adducin 3 (gamma) isoform a 356 cytoskeleton actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton ovary(2)|skin(2)|large_intestine(1) 5 Breast(234;0.052)|Lung NSC(174;0.223) Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742) GAGGAGGTGTGAATATGGGTT 0.448 NaN 0 0 0 0.012213 0 30 70 ACSL5 51703 broad.mit.edu 37 10 114186017 114186017 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr10:114186017C>T uc001kzs.2 + 19 1880 c.1739C>T c.(1738-1740)TCA>TTA p.S580L ACSL5_uc001kzt.2_Missense_Mutation_p.S580L|ACSL5_uc001kzu.2_Missense_Mutation_p.S636L|ACSL5_uc009xxz.2_Missense_Mutation_p.S580L|ACSL5_uc010qrj.1_Missense_Mutation_p.S362L NM_203379 NP_976313 Q9ULC5 ACSL5_HUMAN acyl-CoA synthetase long-chain family member 5 580 Cytoplasmic (Potential). fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane ATP binding|long-chain fatty acid-CoA ligase activity large_intestine(2)|skin(1) 3 Colorectal(252;0.117)|Breast(234;0.222) Epithelial(162;0.0343)|all cancers(201;0.137) TTTCCATAGTCATCCTTAGTA 0.433 NaN 0 0 0 0.008361 0 29 81 NRAP 4892 broad.mit.edu 37 10 115402797 115402797 + Missense_Mutation SNP C C A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr10:115402797C>A uc001laj.2 - 12 1275 c.1111G>T c.(1111-1113)GTG>TTG p.V371L NRAP_uc001lak.2_Intron|NRAP_uc001lal.3_Missense_Mutation_p.V371L NM_198060 NP_932326 Q86VF7 NRAP_HUMAN nebulin-related anchoring protein isoform S 371 Nebulin 8. fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1) 10 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) TTATACTCCACCTTGGAAATC 0.388 NaN 1 0 1.66031e-10 0.003954 1.72965e-10 26 85 DCLRE1A 9937 broad.mit.edu 37 10 115609522 115609522 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr10:115609522C>T uc001law.2 - 2 2260 c.1342G>A c.(1342-1344)GAA>AAA p.E448K NM_014881 NP_055696 Q6PJP8 DCR1A_HUMAN DNA cross-link repair 1A 448 Nuclear focus formation. cell division|mitosis nucleus hydrolase activity skin(2) 2 Epithelial(162;0.0157)|all cancers(201;0.0171) GATGATTCTTCAATTACCTGT 0.388 NaN Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function 0 0 0 0.013114 0 47 61 AFAP1L2 84632 broad.mit.edu 37 10 116062228 116062228 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr10:116062228C>T uc001lbn.2 - 12 1601 c.1300G>A c.(1300-1302)GAA>AAA p.E434K AFAP1L2_uc001lbo.2_Missense_Mutation_p.E434K|AFAP1L2_uc010qse.1_Missense_Mutation_p.E487K|AFAP1L2_uc001lbp.2_Missense_Mutation_p.E462K|AFAP1L2_uc001lbr.1_Missense_Mutation_p.E434K|AFAP1L2_uc001lbm.2_5'Flank|AFAP1L2_uc010qsd.1_5'UTR|AFAP1L2_uc001lbq.1_5'Flank NM_001001936 NP_001001936 Q8N4X5 AF1L2_HUMAN KIAA1914 protein isoform 1 434 PH 2. inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle cytoplasm protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding ovary(1)|breast(1) 2 Colorectal(252;0.175)|Breast(234;0.231) Epithelial(162;0.0219)|all cancers(201;0.0561) TGGCCCATTTCCTCGGAAGAC 0.607 NaN 0 0 0 0.005443 0 22 66 FAM160B1 57700 broad.mit.edu 37 10 116593033 116593033 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr10:116593033C>T uc001lcb.2 + 3 501 c.166C>T c.(166-168)CTG>TTG p.L56L FAM160B1_uc001lcc.2_Silent_p.L56L NM_020940 NP_065991 Q5W0V3 F16B1_HUMAN hypothetical protein LOC57700 isoform a 56 lung(1) 1 TCCATCGCATCTGGAACAGAT 0.353 NaN 0 0 0 0.012319 0 23 67 RAB11FIP2 22841 broad.mit.edu 37 10 119799772 119799772 + Nonsense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr10:119799772G>A uc001ldj.1 - 2 1098 c.658C>T c.(658-660)CAG>TAG p.Q220* RAB11FIP2_uc009xyz.1_Nonsense_Mutation_p.Q220* NM_014904 NP_055719 Q7L804 RFIP2_HUMAN RAB11 family interacting protein 2 220 protein transport plasma membrane|recycling endosome membrane protein homodimerization activity 0 Colorectal(252;0.235) all cancers(201;0.0238) GAGAGTCGCTGAGGACCCAAG 0.438 NaN 0 0 0 0.004656 0 27 262 PRDX3 10935 broad.mit.edu 37 10 120928689 120928689 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr10:120928689C>T uc001lec.2 - 6 760 c.717G>A c.(715-717)ACG>ACA p.T239T NM_006793 NP_006784 P30048 PRDX3_HUMAN peroxiredoxin 3 isoform a precursor 239 cell redox homeostasis|hydrogen peroxide catabolic process|mitochondrion organization|myeloid cell differentiation|negative regulation of kinase activity|positive regulation of cell proliferation|positive regulation of NF-kappaB transcription factor activity|regulation of mitochondrial membrane potential|response to lipopolysaccharide early endosome|mitochondrion alkyl hydroperoxide reductase activity|caspase inhibitor activity|peroxidase activity|peroxiredoxin activity|protein C-terminus binding|protein kinase binding 0 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0245) AAAAACCTACCGTAGGAGAAT 0.512 NaN 0 0 0 0.005443 0 26 73 BAG3 9531 broad.mit.edu 37 10 121411190 121411190 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr10:121411190G>A uc001lem.2 + 1 309 c.3G>A c.(1-3)ATG>ATA p.M1I BAG3_uc001lel.2_Missense_Mutation_p.M1I NM_004281 NP_004272 O95817 BAG3_HUMAN BCL2-associated athanogene 3 1 anti-apoptosis|apoptosis|protein folding cytosol ovary(2) 2 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148) AACCCAGCATGAGCGCCGCCA 0.756 NaN 0 0 0 0.013537 0 11 6 FGFR2 2263 broad.mit.edu 37 10 123239498 123239498 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr10:123239498G>A uc010qtk.1 - 19 2986 c.2339C>T c.(2338-2340)TCA>TTA p.S780L FGFR2_uc010qtg.1_Missense_Mutation_p.S668L|FGFR2_uc010qth.1_Missense_Mutation_p.S665L|FGFR2_uc010qti.1_Intron|FGFR2_uc010qtj.1_Missense_Mutation_p.S781L|FGFR2_uc010qtl.1_Missense_Mutation_p.S664L|FGFR2_uc010qtm.1_Missense_Mutation_p.S663L|FGFR2_uc001lfg.3_Missense_Mutation_p.S388L|FGFR2_uc001lfk.1_RNA NM_000141 NP_000132 P21802 FGFR2_HUMAN fibroblast growth factor receptor 2 isoform 1 780 Cytoplasmic (Potential). angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding endometrium(44)|skin(28)|lung(11)|ovary(4)|cervix(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|central_nervous_system(1) 96 Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107) STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722) all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845) Palifermin(DB00039) GTAACTAGGTGAATACTGTTC 0.443 5 Mis gastric. NSCLC|endometrial Crouzon|Pfeiffer|and Apert syndromes Apert_syndrome|Saethre-Chotzen_syndrome 0 0 0 0.013726 0 33 87 FGFR2 2263 broad.mit.edu 37 10 123325072 123325072 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr10:123325072C>T uc010qtk.1 - 3 903 c.256G>A c.(256-258)GTG>ATG p.V86M FGFR2_uc010qtg.1_Missense_Mutation_p.V86M|FGFR2_uc010qth.1_Intron|FGFR2_uc010qti.1_Intron|FGFR2_uc010qtj.1_Missense_Mutation_p.V86M|FGFR2_uc010qtl.1_Missense_Mutation_p.V86M|FGFR2_uc010qtm.1_Intron|FGFR2_uc001lfl.3_Missense_Mutation_p.V86M|FGFR2_uc001lfm.2_Intron|FGFR2_uc001lfn.3_Intron|FGFR2_uc010qtn.1_Missense_Mutation_p.V105M|FGFR2_uc010qto.1_Intron|FGFR2_uc001lfo.1_Missense_Mutation_p.V105M|FGFR2_uc010qtp.1_Missense_Mutation_p.V105M|FGFR2_uc010qtq.1_Missense_Mutation_p.V105M NM_000141 NP_000132 P21802 FGFR2_HUMAN fibroblast growth factor receptor 2 isoform 1 86 Ig-like C2-type 1.|Extracellular (Potential). angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding endometrium(44)|skin(28)|lung(11)|ovary(4)|cervix(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|central_nervous_system(1) 96 Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107) STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722) all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845) Palifermin(DB00039) CCAATAAGCACTGTCCTATTG 0.552 5 Mis gastric. NSCLC|endometrial Crouzon|Pfeiffer|and Apert syndromes Apert_syndrome|Saethre-Chotzen_syndrome 0 0 0 0.005443 0 26 80 LHPP 64077 broad.mit.edu 37 10 126172787 126172787 + Nonsense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr10:126172787C>T uc001lhs.1 + 2 225 c.205C>T c.(205-207)CAG>TAG p.Q69* LHPP_uc001lht.1_Nonsense_Mutation_p.Q69*|LHPP_uc009yai.1_Nonsense_Mutation_p.Q69* NM_022126 NP_071409 Q9H008 LHPP_HUMAN phospholysine phosphohistidine inorganic 69 protein dephosphorylation cytosol|nucleus inorganic diphosphatase activity|magnesium ion binding|phosphohistidine phosphatase activity|protein homodimerization activity 0 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.163)|Colorectal(40;0.187) GGGGCAGCTTCAGAGGCTGGG 0.627 NaN 0 0 0 0.010729 0 7 34 LHPP 64077 broad.mit.edu 37 10 126301921 126301921 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr10:126301921G>C uc001lhs.1 + 7 825 c.805G>C c.(805-807)GAC>CAC p.D269H LHPP_uc001lht.1_3'UTR|LHPP_uc009yai.1_Missense_Mutation_p.D186H|LHPP_uc009yaj.1_RNA NM_022126 NP_071409 Q9H008 LHPP_HUMAN phospholysine phosphohistidine inorganic 269 protein dephosphorylation cytosol|nucleus inorganic diphosphatase activity|magnesium ion binding|phosphohistidine phosphatase activity|protein homodimerization activity 0 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.163)|Colorectal(40;0.187) GCAGCACGCCGACAAGTGATG 0.388 NaN 0 0 0 0.00333 0 22 26 ZRANB1 54764 broad.mit.edu 37 10 126670348 126670348 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr10:126670348G>A uc001lic.2 + 6 1869 c.1498G>A c.(1498-1500)GAA>AAA p.E500K ZRANB1_uc010qug.1_Missense_Mutation_p.E526K NM_017580 NP_060050 Q9UGI0 ZRAN1_HUMAN zinc finger, RAN-binding domain containing 1 500 OTU.|TRAF-binding. 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) TTCCTTGAGAGAAGAACAGTG 0.378 NaN 0 0 0 0.006122 0 17 51 DHX32 55760 broad.mit.edu 37 10 127525285 127525285 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr10:127525285C>T uc001ljf.1 - 11 2694 c.2203G>A c.(2203-2205)GAA>AAA p.E735K BCCIP_uc001ljd.3_Intron|DHX32_uc001lje.1_Missense_Mutation_p.E359K|DHX32_uc001ljg.1_Missense_Mutation_p.E735K|BCCIP_uc010qui.1_Intron|BCCIP_uc001ljc.3_Intron|BCCIP_uc010quj.1_Intron NM_018180 NP_060650 Q7L7V1 DHX32_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32 735 mitochondrion|nucleus ATP binding|helicase activity breast(2)|ovary(1)|lung(1) 4 all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936) TGTTCAGTTTCAGGGCACGTC 0.498 NaN 0 0 0 0.00245 0 15 38 GLRX3 10539 broad.mit.edu 37 10 131964842 131964842 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr10:131964842G>A uc001lkm.1 + 5 572 c.550G>A c.(550-552)GAT>AAT p.D184N GLRX3_uc001lkn.1_Missense_Mutation_p.D184N|GLRX3_uc001lko.2_RNA NM_006541 NP_006532 O76003 GLRX3_HUMAN glutaredoxin 3 184 Glutaredoxin 1. 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) TATCTTCTCAGATGAAGAGGT 0.383 NaN 0 0 0 0.00278 0 24 100 DPYSL4 10570 broad.mit.edu 37 10 134015509 134015509 + Missense_Mutation SNP A A C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr10:134015509A>C uc009ybb.2 + 11 1324 c.1170A>C c.(1168-1170)AAA>AAC p.K390N NM_006426 NP_006417 O14531 DPYL4_HUMAN dihydropyrimidinase-like 4 390 axon guidance|pyrimidine base catabolic process cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides central_nervous_system(2) 2 all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206) ATGCTGCCAAAATCTTCAATT 0.557 NaN 0 0 0 0.00333 0 23 126 PWWP2B 170394 broad.mit.edu 37 10 134218707 134218707 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr10:134218707G>A uc001lll.3 + 2 732 c.703G>A c.(703-705)GAG>AAG p.E235K PWWP2B_uc009ybe.2_Missense_Mutation_p.E235K NM_138499 NP_612508 Q6NUJ5 PWP2B_HUMAN PWWP domain containing 2 isoform 1 235 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) GAGCAAGAGGGAGAGGCGCGA 0.716 NaN 0 0 0 0.004672 0 3 7 C10orf91 170393 broad.mit.edu 37 10 134261557 134261557 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr10:134261557G>A uc001llm.2 + 3 470 c.430G>A c.(430-432)GAA>AAA p.E144K NM_173541 NP_775812 Q5T1B1 CJ091_HUMAN hypothetical protein LOC170393 144 ovary(1) 1 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;6.95e-05)|Epithelial(32;0.000142)|all cancers(32;0.000162) TGCGGCCTTCGAAGCCTGAAG 0.662 NaN 0 0 0 0.00333 0 22 109 INPP5A 3632 broad.mit.edu 37 10 134511403 134511403 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr10:134511403C>T uc001llp.2 + 6 702 c.454C>T c.(454-456)CCG>TCG p.P152S INPP5A_uc001llo.1_Missense_Mutation_p.P152S|INPP5A_uc001llq.2_Missense_Mutation_p.P104S NM_005539 NP_005530 Q14642 I5P1_HUMAN inositol polyphosphate-5-phosphatase A 152 PQDYFPECKWSRKGFIRTRWC -> RRLLPRVQMVKKRLHP DEVV (in Ref. 5; CAA83500). cell communication membrane inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding skin(1) 1 all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326) GGAGAAGTTTCCGCAGGACTA 0.498 NaN 0 0 0 0.010729 0 10 34 HRAS 3265 broad.mit.edu 37 11 533785 533785 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:533785C>T uc001lpv.2 - 3 459 c.271G>A c.(271-273)GAG>AAG p.E91K HRAS_uc010qvw.1_Missense_Mutation_p.E91K|HRAS_uc010qvx.1_Missense_Mutation_p.E91K|HRAS_uc010qvy.1_RNA NM_005343 NP_005334 P01112 RASH_HUMAN v-Ha-ras Harvey rat sarcoma viral oncogene 91 activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding urinary_tract(174)|thyroid(155)|skin(126)|upper_aerodigestive_tract(112)|soft_tissue(37)|prostate(29)|salivary_gland(24)|cervix(23)|stomach(14)|pituitary(10)|lung(9)|haematopoietic_and_lymphoid_tissue(9)|breast(6)|testis(5)|endometrium(4)|bone(3)|large_intestine(2)|oesophagus(2)|penis(2)|kidney(1)|adrenal_gland(1)|thymus(1) 749 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) TGGATGTCCTCAAAAGACTTG 0.657 6 Mis infrequent sarcomas|rare other types rhadomyosarcoma|ganglioneuroblastoma|bladder Costello_syndrome HNSCC(11;0.0054) 0 0 0 0.010504 0 20 35 RASSF7 8045 broad.mit.edu 37 11 563424 563424 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:563424C>T uc001lqc.2 + 5 1015 c.980C>T c.(979-981)TCC>TTC p.S327F C11orf35_uc001lpx.2_5'Flank|RASSF7_uc001lqa.2_3'UTR|RASSF7_uc001lqb.2_3'UTR|RASSF7_uc001lqd.2_Intron NM_003475 NP_003466 Q02833 RASF7_HUMAN Ras association (RalGDS/AF-6) domain family 327 regulation of transcription, DNA-dependent|signal transduction nucleus DNA binding|protein binding skin(1) 1 all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) AGAGAGGAGTCCCTCCTGGGC 0.697 NaN 0 0 0 0.001168 0 5 12 PHRF1 57661 broad.mit.edu 37 11 597514 597514 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:597514G>A uc001lqe.2 + 8 969 c.838G>A c.(838-840)GAG>AAG p.E280K PHRF1_uc010qwc.1_Missense_Mutation_p.E280K|PHRF1_uc010qwd.1_Missense_Mutation_p.E279K|PHRF1_uc010qwe.1_Missense_Mutation_p.E276K|PHRF1_uc009ybz.1_Missense_Mutation_p.E71K NM_020901 NP_065952 Q9P1Y6 PHRF1_HUMAN PHD and ring finger domains 1 280 Arg-rich. RNA polymerase binding|zinc ion binding 0 ACGGCAGAGTGAGAGAGTGAG 0.662 NaN 0 0 0 0.000602 0 5 17 CDHR5 53841 broad.mit.edu 37 11 617418 617419 + Missense_Mutation DNP TC TC AT rs76054644 TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:617418_617419TC>AT uc001lqj.2 - 15 2575_2576 c.2470_2471GA>AT c.(2470-2472)GAG>ATG p.E824M IRF7_uc009ycb.2_5'Flank|IRF7_uc010qwf.1_5'Flank|IRF7_uc001lqf.2_5'Flank|IRF7_uc010qwg.1_5'Flank|IRF7_uc001lqg.2_5'Flank|IRF7_uc001lqh.2_5'Flank|IRF7_uc001lqi.2_5'Flank|IRF7_uc010qwh.1_5'Flank|CDHR5_uc001lqk.2_Missense_Mutation_p.E630M|CDHR5_uc009ycc.2_Missense_Mutation_p.E658M|CDHR5_uc009ycd.2_Missense_Mutation_p.E818M|CDHR5_uc001lql.2_Missense_Mutation_p.E824M NM_021924 NP_068743 Q9HBB8 CDHR5_HUMAN mucin and cadherin-like isoform 1 824 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 GCCCTCGCCCTCATCGCCGCTG 0.688 NaN 0 0 0 0.004672 0 4 11 TMEM80 283232 broad.mit.edu 37 11 702971 702971 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:702971G>A uc001lqr.2 + 5 465 c.328G>A c.(328-330)GAG>AAG p.E110K TMEM80_uc001lqs.2_Missense_Mutation_p.E102K|TMEM80_uc010qwi.1_Missense_Mutation_p.E110K NM_001042463 NP_001035928 Q96HE8 TMM80_HUMAN transmembrane protein 80 isoform 2 110 integral to membrane 0 all_cancers(49;5.11e-06)|all_epithelial(84;0.00143)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;3.44e-27)|Epithelial(43;2.29e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.19e-20)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GACAGAGGCTGAGAGGCCGCT 0.692 NaN 0 0 0 0.010729 0 11 36 TMEM80 283232 broad.mit.edu 37 11 703075 703075 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:703075C>T uc001lqr.2 + 5 569 c.432C>T c.(430-432)CTC>CTT p.L144L TMEM80_uc001lqs.2_Silent_p.L136L|TMEM80_uc010qwi.1_Silent_p.L144L NM_001042463 NP_001035928 Q96HE8 TMM80_HUMAN transmembrane protein 80 isoform 2 144 Helical; (Potential). integral to membrane 0 all_cancers(49;5.11e-06)|all_epithelial(84;0.00143)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;3.44e-27)|Epithelial(43;2.29e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.19e-20)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) ACTGGGCCCTCAGCGCCACGC 0.701 NaN 0 0 0 0.001984 0 7 35 MUC2 4583 broad.mit.edu 37 11 1081800 1081800 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:1081800G>A uc001lsx.1 + 13 1755 c.1728G>A c.(1726-1728)CTG>CTA p.L576L NM_002457 NP_002448 Q02817 MUC2_HUMAN mucin 2 precursor 576 VWFD 2. 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) CCTGCTCCCTGAACATCGAGA 0.677 NaN 0 0 0 0.006122 0 16 20 MUC5B 727897 broad.mit.edu 37 11 1276623 1276623 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:1276623G>A uc009ycr.1 + 59 17038 c.16912G>A c.(16912-16914)GAG>AAG p.E5638K MUC5B_uc001ltb.2_Missense_Mutation_p.E5304K NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 5301 VWFD 4. cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GGTCTTTGCTGAGTGCCACAA 0.597 NaN 0 0 0 0.000602 0 4 5 SYT8 90019 broad.mit.edu 37 11 1856335 1856335 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:1856335G>A uc001lue.1 + 2 170 c.42G>A c.(40-42)AAG>AAA p.K14K SYT8_uc010qxb.1_5'UTR|SYT8_uc001lud.2_Silent_p.K14K|SYT8_uc001luf.1_5'UTR|SYT8_uc009ydb.1_5'UTR NM_138567 NP_612634 Q8NBV8 SYT8_HUMAN synaptotagmin VIII 14 Extracellular (Potential). acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle transporter activity ovary(1) 1 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) AGGGTAGAAAGATGGGGCACC 0.657 NaN 0 0 0 0.001168 0 6 34 SYT8 90019 broad.mit.edu 37 11 1856355 1856355 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:1856355C>G uc001lue.1 + 2 190 c.62C>G c.(61-63)TCT>TGT p.S21C SYT8_uc010qxb.1_Missense_Mutation_p.S7C|SYT8_uc001lud.2_Missense_Mutation_p.S21C|SYT8_uc001luf.1_Missense_Mutation_p.S7C|SYT8_uc009ydb.1_Missense_Mutation_p.S7C NM_138567 NP_612634 Q8NBV8 SYT8_HUMAN synaptotagmin VIII 21 Extracellular (Potential). acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle transporter activity ovary(1) 1 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) CCACCAGTCTCTCCCAGTGCC 0.662 NaN 0 0 0 0.000602 0 5 37 SYT8 90019 broad.mit.edu 37 11 1856543 1856543 + Missense_Mutation SNP A A C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:1856543A>C uc001lue.1 + 3 282 c.154A>C c.(154-156)ATT>CTT p.I52L SYT8_uc010qxb.1_Missense_Mutation_p.I38L|SYT8_uc001lud.2_Missense_Mutation_p.I52L|SYT8_uc001luf.1_Missense_Mutation_p.I38L|SYT8_uc009ydb.1_Missense_Mutation_p.I38L NM_138567 NP_612634 Q8NBV8 SYT8_HUMAN synaptotagmin VIII 52 Helical; Signal-anchor for type III membrane protein; (Potential). acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle transporter activity ovary(1) 1 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) CTGGGCTCTCATTGCCGGCGC 0.677 NaN 0 0 0 0.003954 0 20 42 NUP98 4928 broad.mit.edu 37 11 3707310 3707310 + Silent SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:3707310G>C uc001lyh.2 - 29 4860 c.4569C>G c.(4567-4569)CTC>CTG p.L1523L NUP98_uc001lyi.2_Intron|NUP98_uc001lyg.2_Silent_p.L488L NM_016320 NP_057404 P52948 NUP98_HUMAN nucleoporin 98kD isoform 1 1540 carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1) 12 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) ACTGCGCTGAGAGATGGGTGT 0.557 NaN T HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11 AML 0 0 0 0.004007 0 17 82 OR51D1 390038 broad.mit.edu 37 11 4661061 4661061 + Nonsense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:4661061C>G uc010qyk.1 + 1 41 c.41C>G c.(40-42)TCA>TGA p.S14* NM_001004751 NP_001004751 Q8NGF3 O51D1_HUMAN olfactory receptor, family 51, subfamily D, 14 Extracellular (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) ATAGCCACTTCAAATGGAAAT 0.473 NaN 0 0 0 0.009535 0 29 145 OR51L1 119682 broad.mit.edu 37 11 5020915 5020915 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:5020915G>C uc010qyu.1 + 1 703 c.703G>C c.(703-705)GAG>CAG p.E235Q NM_001004755 NP_001004755 Q8NGJ5 O51L1_HUMAN olfactory receptor, family 51, subfamily L, 235 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) ATCTCGTGAAGAGCAGCTAAA 0.423 NaN 0 0 0 0.00499 0 18 82 OR52A1 23538 broad.mit.edu 37 11 5173165 5173165 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:5173165C>G uc010qyy.1 - 1 435 c.435G>C c.(433-435)CAG>CAC p.Q145H NM_012375 NP_036507 Q9UKL2 O52A1_HUMAN olfactory receptor, family 52, subfamily A, 145 Helical; Name=4; (Potential). sensory perception of smell integral to plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TAGTTCCTATCTGAATGACAA 0.483 NaN 0 0 0 0.00278 0 23 51 TRIM6-TRIM34 445372 broad.mit.edu 37 11 5624476 5624476 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:5624476G>A uc001mbf.2 + 2 262 c.18G>A c.(16-18)AGG>AGA p.R6R HBG2_uc001mak.1_Intron|TRIM6_uc009yeo.1_5'UTR|TRIM6_uc010qzj.1_Intron|TRIM6_uc001mbc.1_5'UTR|TRIM6_uc001mbe.2_Intron|TRIM6_uc010qzk.1_Intron|TRIM6_uc010qzl.1_Intron|TRIM6_uc001mbd.2_Silent_p.R6R|TRIM6_uc001mbg.1_5'Flank|TRIM6_uc009yep.1_5'Flank NM_001003819 NP_001003819 B2RNG4 B2RNG4_HUMAN tripartite motif-containing 6 and tripartite 6 intracellular zinc ion binding ovary(1) 1 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145) ATCTACCTAGGATTCTACAGG 0.473 NaN 0 0 0 0.003954 0 25 39 TRIM6-TRIM34 445372 broad.mit.edu 37 11 5624860 5624860 + Silent SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:5624860C>G uc001mbf.2 + 2 646 c.402C>G c.(400-402)CTC>CTG p.L134L HBG2_uc001mak.1_Intron|TRIM6_uc009yeo.1_Intron|TRIM6_uc010qzj.1_5'UTR|TRIM6_uc001mbc.1_Silent_p.L106L|TRIM6_uc001mbe.2_5'UTR|TRIM6_uc010qzk.1_Intron|TRIM6_uc010qzl.1_Intron|TRIM6_uc001mbd.2_Silent_p.L134L|TRIM6_uc001mbg.1_5'Flank|TRIM6_uc009yep.1_5'Flank NM_001003819 NP_001003819 B2RNG4 B2RNG4_HUMAN tripartite motif-containing 6 and tripartite 134 intracellular zinc ion binding ovary(1) 1 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145) AACTGCAGCTCTTCTGTCAGG 0.557 NaN 0 0 0 0.009718 0 40 65 TAF10 6881 broad.mit.edu 37 11 6632638 6632638 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:6632638C>T uc001mej.1 - 3 458 c.433G>A c.(433-435)GAG>AAG p.E145K NM_006284 NP_006275 Q12962 TAF10_HUMAN TBP-related factor 10 145 histone deubiquitination|histone H3 acetylation|protein homooligomerization|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction PCAF complex|perinuclear region of cytoplasm|STAGA complex|transcription factor TFIID complex|transcription factor TFTC complex estrogen receptor binding|RNA polymerase binding|transcription coactivator activity 0 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.0481) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.129) TCTGAGGCCTCAAAGCCAGCA 0.493 NaN 0 0 0 0.012319 0 21 18 TAF10 6881 broad.mit.edu 37 11 6632654 6632654 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:6632654C>T uc001mej.1 - 3 442 c.417G>A c.(415-417)CTG>CTA p.L139L NM_006284 NP_006275 Q12962 TAF10_HUMAN TBP-related factor 10 139 histone deubiquitination|histone H3 acetylation|protein homooligomerization|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction PCAF complex|perinuclear region of cytoplasm|STAGA complex|transcription factor TFIID complex|transcription factor TFTC complex estrogen receptor binding|RNA polymerase binding|transcription coactivator activity 0 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.0481) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.129) CAGCACGGTTCAGGTAGTAAC 0.502 NaN 0 0 0 0.007413 0 18 15 DCHS1 8642 broad.mit.edu 37 11 6648801 6648801 + Silent SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:6648801C>G uc001mem.1 - 14 5879 c.5469G>C c.(5467-5469)CTG>CTC p.L1823L NM_003737 NP_003728 Q96JQ0 PCD16_HUMAN dachsous 1 precursor 1823 Cadherin 17.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|large_intestine(1)|pancreas(1) 5 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCTCTATCCTCAGCTGGAAAG 0.577 NaN 0 0 0 0.006214 0 9 16 DCHS1 8642 broad.mit.edu 37 11 6661224 6661225 + Missense_Mutation DNP CC CC TA TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:6661224_6661225CC>TA uc001mem.1 - 2 2030_2031 c.1620_1621GG>TA c.(1618-1623)TTGGAA>TTTAAA p.540_541LE>FK NM_003737 NP_003728 Q96JQ0 PCD16_HUMAN dachsous 1 precursor 540_541 Extracellular (Potential).|Cadherin 5. 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) GGCTGAGGTTCCAACTCATAGT 0.569 NaN 0 0 0 0.004672 0 11 33 DCHS1 8642 broad.mit.edu 37 11 6661230 6661230 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:6661230C>T uc001mem.1 - 2 2025 c.1615G>A c.(1615-1617)GAG>AAG p.E539K NM_003737 NP_003728 Q96JQ0 PCD16_HUMAN dachsous 1 precursor 539 Extracellular (Potential).|Cadherin 5. 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) GGTTCCAACTCATAGTCCAGT 0.582 NaN 0 0 0 0.003163 0 11 33 MRPL17 63875 broad.mit.edu 37 11 6704022 6704022 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:6704022C>T uc001men.2 - 2 304 c.199G>A c.(199-201)GAC>AAC p.D67N NM_022061 NP_071344 Q9NRX2 RM17_HUMAN mitochondrial ribosomal protein L17 precursor 67 translation ribosome protein domain specific binding|structural constituent of ribosome 0 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) TCGTTAGTGTCTCCCAGCTTC 0.532 NaN 0 0 0 0.005443 0 23 9 OLFML1 283298 broad.mit.edu 37 11 7509610 7509610 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:7509610G>A uc001mfi.2 + 2 734 c.382G>A c.(382-384)GAA>AAA p.E128K uc001mff.1_Intron|OLFML1_uc001mfh.1_Missense_Mutation_p.E128K|OLFML1_uc010raz.1_Intron|OLFML1_uc010rba.1_Missense_Mutation_p.E128K NM_198474 NP_940876 Q6UWY5 OLFL1_HUMAN olfactomedin-like 1 precursor 128 Potential. extracellular region ovary(2) 2 Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) CCAAGAAGCTGAAGAAGAGAA 0.458 NaN 0 0 0 0.00308 0 7 15 EIF3F 8665 broad.mit.edu 37 11 8014480 8014480 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:8014480G>A uc001mfw.2 + 4 595 c.562G>A c.(562-564)GAG>AAG p.E188K EIF3F_uc010rbj.1_Missense_Mutation_p.E39K NM_003754 NP_003745 O00303 EIF3F_HUMAN eukaryotic translation initiation factor 3, 188 MPN. cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity lung(1) 1 Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) GCTGATCCACGAGTACTACAG 0.542 NaN 0 0 0 0.01441 0 62 46 SCUBE2 57758 broad.mit.edu 37 11 9088303 9088303 + Missense_Mutation SNP C C A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:9088303C>A uc001mhh.1 - 6 781 c.701G>T c.(700-702)GGC>GTC p.G234V SCUBE2_uc001mhi.1_Missense_Mutation_p.G234V|SCUBE2_uc001mhj.1_Missense_Mutation_p.G234V NM_020974 NP_066025 Q9NQ36 SCUB2_HUMAN CEGP1 protein precursor 234 EGF-like 5 (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) GCACTCTGGGCCATCGGCTGT 0.537 NaN 1 0 5.35267e-07 0.007413 5.50488e-07 16 10 IPO7 10527 broad.mit.edu 37 11 9424908 9424908 + Silent SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:9424908G>C uc001mho.2 + 2 298 c.156G>C c.(154-156)GTG>GTC p.V52V NM_006391 NP_006382 O95373 IPO7_HUMAN importin 7 52 Importin N-terminal. interspecies interaction between organisms|signal transduction Golgi apparatus|nuclear pore|soluble fraction protein transporter activity|Ran GTPase binding|small GTPase regulator activity lung(1)|breast(1) 2 all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217) ATTTACCTGTGAGACAGGCAG 0.378 NaN 0 0 0 0.007413 0 18 49 WEE1 7465 broad.mit.edu 37 11 9597434 9597434 + Splice_Site SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:9597434G>A uc001mhs.2 + 2 830 c.577_splice c.e2-1 p.S193_splice WEE1_uc001mht.2_Splice_Site|WEE1_uc001mhu.2_5'UTR NM_003390 NP_003381 P30291 WEE1_HUMAN WEE1 tyrosine kinase isoform 1 blood coagulation|cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|S phase of mitotic cell cycle nucleoplasm ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity central_nervous_system(2)|ovary(1)|breast(1)|skin(1) 5 all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484) TCTTTCCCTAGAGTTTGCTCT 0.413 NaN 0 0 0 0.006214 0 10 56 WEE1 7465 broad.mit.edu 37 11 9598771 9598771 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:9598771G>A uc001mhs.2 + 5 1355 c.1102G>A c.(1102-1104)GAA>AAA p.E368K WEE1_uc001mht.2_Missense_Mutation_p.E154K|WEE1_uc001mhu.2_Missense_Mutation_p.E154K NM_003390 NP_003381 P30291 WEE1_HUMAN WEE1 tyrosine kinase isoform 1 368 Protein kinase. blood coagulation|cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|S phase of mitotic cell cycle nucleoplasm ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity central_nervous_system(2)|ovary(1)|breast(1)|skin(1) 5 all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484) TGCGTGGGCAGAAGATGATCA 0.373 NaN 0 0 0 0.003954 0 24 138 EIF4G2 1982 broad.mit.edu 37 11 10822517 10822517 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:10822517G>A uc001mjc.2 - 15 1948 c.1531C>T c.(1531-1533)CTG>TTG p.L511L EIF4G2_uc001mjb.2_Silent_p.L305L|EIF4G2_uc009ygf.2_Silent_p.L305L|EIF4G2_uc001mjd.2_Silent_p.L473L|EIF4G2_uc001mjf.1_Silent_p.L267L NM_001418 NP_001409 P78344 IF4G2_HUMAN eukaryotic translation initiation factor 4 511 cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity ovary(1)|central_nervous_system(1) 2 all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) ACCTGTCCCAGAGGTGGTGTT 0.413 NaN 0 0 0 0.004878 0 38 134 PLEKHA7 144100 broad.mit.edu 37 11 16838617 16838617 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:16838617G>C uc001mmo.2 - 11 1611 c.1596C>G c.(1594-1596)TTC>TTG p.F532L PLEKHA7_uc010rcu.1_Missense_Mutation_p.F532L|PLEKHA7_uc010rcv.1_Missense_Mutation_p.F106L|PLEKHA7_uc001mmn.2_Missense_Mutation_p.F240L NM_175058 NP_778228 Q6IQ23 PKHA7_HUMAN pleckstrin homology domain containing, family A 532 epithelial cell-cell adhesion|zonula adherens maintenance centrosome|zonula adherens delta-catenin binding skin(2)|central_nervous_system(1) 3 TGCCGTGCCGGAACTGCTGGC 0.677 NaN 0 0 0 0.010729 0 11 20 PIK3C2A 5286 broad.mit.edu 37 11 17121480 17121480 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:17121480G>C uc001mmq.3 - 25 4111 c.4045C>G c.(4045-4047)CAA>GAA p.Q1349E PIK3C2A_uc009ygu.1_5'UTR|PIK3C2A_uc010rcw.1_Missense_Mutation_p.Q969E|PIK3C2A_uc001mmr.3_Intron NM_002645 NP_002636 O00443 P3C2A_HUMAN phosphoinositide-3-kinase, class 2 alpha 1349 PI3K/PI4K. cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity lung(4)|central_nervous_system(4)|stomach(1)|ovary(1) 10 Phosphatidylserine(DB00144) TTCAAATCTTGAATACTTGTA 0.333 NaN 0 0 0 0.014323 0 22 88 SAA4 6291 broad.mit.edu 37 11 18253209 18253209 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:18253209C>T uc001mny.2 - 4 329 c.233G>A c.(232-234)CGT>CAT p.R78H NM_006512 NP_006503 P35542 SAA4_HUMAN serum amyloid A4, constitutive precursor 78 acute-phase response high-density lipoprotein particle 0 GACCCTGGAACGGCTGCAACC 0.488 NaN 0 0 0 0.00308 0 8 47 CSRP3 8048 broad.mit.edu 37 11 19204293 19204293 + Missense_Mutation SNP A A T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:19204293A>T uc001mpk.2 - 6 626 c.509T>A c.(508-510)GTT>GAT p.V170D NM_003476 NP_003467 P50461 CSRP3_HUMAN cysteine and glycine-rich protein 3 170 LIM zinc-binding 2. cell differentiation|skeletal muscle tissue development cytoskeleton|nucleus protein binding|zinc ion binding 0 GGCATAGCAAACTGTGAATGA 0.428 NaN 0 0 0 0.00333 0 24 65 FANCF 2188 broad.mit.edu 37 11 22646239 22646239 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:22646239G>A uc001mql.1 - 1 1149 c.1118C>T c.(1117-1119)TCT>TTT p.S373F NM_022725 NP_073562 Q9NPI8 FANCF_HUMAN Fanconi anemia, complementation group F 373 DNA repair nucleoplasm protein binding skin(1) 1 TGCCTATACAGAACTGAGGCC 0.383 NaN N|F AML|leukemia Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 0 0 0 0.010771 0 42 56 GAS2 2620 broad.mit.edu 37 11 22707331 22707331 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:22707331C>T uc009yie.2 + 3 569 c.263C>T c.(262-264)ACA>ATA p.T88I GAS2_uc001mqm.2_Missense_Mutation_p.T88I|GAS2_uc001mqn.2_RNA|GAS2_uc001mqo.2_Missense_Mutation_p.T88I NM_001143830 NP_001137302 O43903 GAS2_HUMAN growth arrest-specific 2 88 CH. cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape actin filament|cytosol|membrane ovary(1)|skin(1) 2 AACAAGCCCACAAAGGTAAAA 0.358 NaN 0 0 0 0.00632 0 29 32 LUZP2 338645 broad.mit.edu 37 11 25004745 25004745 + Missense_Mutation SNP C C A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:25004745C>A uc001mqs.2 + 9 905 c.671C>A c.(670-672)CCC>CAC p.P224H LUZP2_uc009yif.2_Missense_Mutation_p.P138H|LUZP2_uc009yig.2_Missense_Mutation_p.P182H NM_001009909 NP_001009909 Q86TE4 LUZP2_HUMAN leucine zipper protein 2 precursor 224 Poly-Pro. extracellular region ovary(1)|skin(1) 2 CAGCCTCCTCCCCCTTTGAGT 0.448 NaN 1 0 4.41824e-40 0.01441 4.69519e-40 82 80 ANO3 63982 broad.mit.edu 37 11 26465320 26465320 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:26465320G>A uc001mqt.3 + 3 395 c.250G>A c.(250-252)GAG>AAG p.E84K ANO3_uc010rdr.1_Missense_Mutation_p.E68K NM_031418 NP_113606 Q9BYT9 ANO3_HUMAN transmembrane protein 16C 84 Cytoplasmic (Potential). chloride channel complex chloride channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 AGTTAATACTGAGGAGAATAA 0.338 NaN 0 0 0 0.010729 0 10 28 NAT10 55226 broad.mit.edu 37 11 34167693 34167693 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:34167693G>C uc001mvk.2 + 29 3276 c.3032G>C c.(3031-3033)AGA>ACA p.R1011T NAT10_uc010ren.1_Missense_Mutation_p.R939T NM_024662 NP_078938 Q9H0A0 NAT10_HUMAN N-acetyltransferase 10 isoform a 1011 Lys-rich.|Required for localization to the nucleolus and midbody. nucleolus ATP binding|N-acetyltransferase activity|protein binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231) TTGAAGAACAGAGAGACAAAG 0.358 NaN 0 0 0 0.004672 0 3 15 EHF 26298 broad.mit.edu 37 11 34680084 34680084 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:34680084G>A uc001mvr.1 + 8 723 c.612G>A c.(610-612)CCG>CCA p.P204P EHF_uc009yke.1_Silent_p.P181P|EHF_uc009ykf.1_Silent_p.P207P NM_012153 NP_036285 Q9NZC4 EHF_HUMAN ets homologous factor 204 cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_hematologic(20;0.117) Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235) CATCAGACCCGAGAGGGACTC 0.468 NaN 0 0 0 0.01441 0 50 33 CRY2 1408 broad.mit.edu 37 11 45889168 45889168 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:45889168G>C uc010rgn.1 + 6 832 c.810G>C c.(808-810)TGG>TGC p.W270C CRY2_uc009ykw.2_Missense_Mutation_p.W188C|CRY2_uc010rgo.1_5'UTR NM_021117 NP_066940 Q49AN0 CRY2_HUMAN cryptochrome 2 (photolyase-like) isoform 1 249 FAD-binding. DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding central_nervous_system(1) 1 TGTAGGCCTGGGTTGCCAACT 0.433 NaN 0 0 0 0.005443 0 26 75 AMBRA1 55626 broad.mit.edu 37 11 46563761 46563761 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:46563761G>A uc010rgu.1 - 7 2166 c.1806C>T c.(1804-1806)GTC>GTT p.V602V AMBRA1_uc010rgt.1_Silent_p.V168V|AMBRA1_uc009ylc.1_Silent_p.V602V|AMBRA1_uc001ncu.1_Silent_p.V512V|AMBRA1_uc001ncv.2_Silent_p.V512V|AMBRA1_uc001ncw.2_Silent_p.V512V|AMBRA1_uc001ncx.2_Silent_p.V602V NM_017749 NP_060219 Q9C0C7 AMRA1_HUMAN activating molecule in beclin-1-regulated 602 Ser-rich. 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) AGGAGCTGGGGACCTGCCAAG 0.582 NaN 0 0 0 0.006214 0 8 28 F2 2147 broad.mit.edu 37 11 46749600 46749600 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:46749600C>T uc001ndf.3 + 10 1228 c.1185C>T c.(1183-1185)CTC>CTT p.L395L F2_uc001ndg.3_RNA NM_000506 NP_000497 P00734 THRB_HUMAN coagulation factor II preproprotein 395 Peptidase S1. activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity ovary(3) 3 all_lung(304;0.000414)|Lung NSC(402;0.0011) BRCA - Breast invasive adenocarcinoma(625;0.146) Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898) GGGCCAGCCTCATCAGTGACC 0.627 NaN 0 0 0 0.009096 0 4 12 LRP4 4038 broad.mit.edu 37 11 46890629 46890629 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:46890629C>T uc001ndn.3 - 32 4893 c.4747G>A c.(4747-4749)GAC>AAC p.D1583N uc001ndl.2_Intron NM_002334 NP_002325 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 1583 Extracellular (Potential).|LDL-receptor class B 20. 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) GAGTATTTGTCAACACGCTGG 0.507 NaN 0 0 0 0.010504 0 21 35 MYBPC3 4607 broad.mit.edu 37 11 47354825 47354825 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:47354825G>A uc001nfa.3 - 29 3305 c.3250C>T c.(3250-3252)CTG>TTG p.L1084L NM_000256 NP_000247 Q14896 MYPC3_HUMAN myosin binding protein C, cardiac 1083 Fibronectin type-III 3. 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) TTCCACTCCAGAGCCACATTA 0.617 NaN 0 0 0 0.00308 0 7 1 SLC39A13 91252 broad.mit.edu 37 11 47433961 47433961 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:47433961G>A uc009ylq.2 + 4 651 c.480G>A c.(478-480)CTG>CTA p.L160L SLC39A13_uc001nfd.2_Silent_p.L160L|SLC39A13_uc001nfe.1_RNA|SLC39A13_uc001nff.3_Silent_p.L160L|SLC39A13_uc001nfg.3_Silent_p.L160L NM_001128225 NP_001121697 Q96H72 S39AD_HUMAN solute carrier family 39 (zinc transporter), 160 Helical; (Potential). zinc ion transport integral to membrane metal ion transmembrane transporter activity 0 Lung(87;0.0936) CTGGCATCCTGACCTTCCTGG 0.562 NaN OREG0020959 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.010729 0 12 22 AGBL2 79841 broad.mit.edu 37 11 47721019 47721019 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:47721019C>T uc001ngg.2 - 7 773 c.673G>A c.(673-675)GTT>ATT p.V225I AGBL2_uc010rhq.1_Missense_Mutation_p.V187I|AGBL2_uc001ngh.1_Missense_Mutation_p.V169I NM_024783 NP_079059 Q5U5Z8 CBPC2_HUMAN carboxypeptidase 2, cytosolic 225 proteolysis cytosol metallocarboxypeptidase activity|zinc ion binding ovary(2) 2 TGATAGACAACTGTTCCTTTT 0.333 NaN 0 0 0 0.014323 0 21 74 OR8J3 81168 broad.mit.edu 37 11 55904807 55904807 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:55904807G>C uc010riz.1 - 1 388 c.388C>G c.(388-390)CTG>GTG p.L130V NM_001004064 NP_001004064 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, 130 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Esophageal squamous(21;0.00693) ATGTAGAGCAGAGGGTTACAA 0.507 NaN 0 0 0 0.005443 0 20 105 OR5T2 219464 broad.mit.edu 37 11 56000467 56000467 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:56000467G>C uc010rjc.1 - 1 195 c.195C>G c.(193-195)ATC>ATG p.I65M NM_001004746 NP_001004746 Q8NGG2 OR5T2_HUMAN olfactory receptor, family 5, subfamily T, 65 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) GGAAGAAGAAGATAGTCTGCA 0.388 NaN 0 0 0 0.008361 0 32 46 OR5M3 219482 broad.mit.edu 37 11 56237065 56237065 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:56237065G>A uc010rjk.1 - 1 909 c.909C>T c.(907-909)ATC>ATT p.I303I NM_001004742 NP_001004742 Q8NGP4 OR5M3_HUMAN olfactory receptor, family 5, subfamily M, 303 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) ATGATCTGCTGATCACTTTCA 0.343 NaN 0 0 0 0.00333 0 18 25 OR5M3 219482 broad.mit.edu 37 11 56237767 56237767 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:56237767C>T uc010rjk.1 - 1 207 c.207G>A c.(205-207)GTG>GTA p.V69V NM_001004742 NP_001004742 Q8NGP4 OR5M3_HUMAN olfactory receptor, family 5, subfamily M, 69 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) AAGAAAACCACACATCAACAA 0.388 NaN 0 0 0 0.01441 0 54 87 RTN4RL2 349667 broad.mit.edu 37 11 57243799 57243799 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:57243799C>T uc010rjt.1 + 3 678 c.678C>T c.(676-678)CTC>CTT p.L226L NM_178570 NP_848665 Q86UN3 R4RL2_HUMAN reticulon 4 receptor-like 2 precursor 226 axon regeneration anchored to plasma membrane receptor activity 0 TCCGCGGCCTCAGCCGCCTCA 0.706 NaN 0 0 0 0.001855 0 6 8 DTX4 23220 broad.mit.edu 37 11 58940200 58940200 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:58940200G>A uc001nns.2 + 1 389 c.132G>A c.(130-132)GTG>GTA p.V44V DTX4_uc001nnr.2_Intron NM_015177 NP_055992 Q9Y2E6 DTX4_HUMAN deltex 4 homolog 44 WWE 1. Notch signaling pathway cytoplasm zinc ion binding lung(2)|central_nervous_system(1) 3 all_epithelial(135;0.125) ggggcAGCGTGGTGCTGGGCC 0.582 NaN 0 0 0 0.000602 0 5 1 MS4A2 2206 broad.mit.edu 37 11 59856269 59856269 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:59856269C>T uc001nop.2 + 1 133 c.31C>T c.(31-33)CTT>TTT p.L11F MS4A2_uc009ymu.2_Missense_Mutation_p.L11F NM_000139 NP_000130 Q01362 FCERB_HUMAN membrane-spanning 4-domains, subfamily A, member 11 Cytoplasmic (Potential). cell proliferation|humoral immune response integral to plasma membrane calcium channel activity ovary(1) 1 all_epithelial(135;0.245) Omalizumab(DB00043) GAGAGCAAATCTTGCTCTCCC 0.413 NaN 0 0 0 0.010729 0 11 21 MS4A14 84689 broad.mit.edu 37 11 60164085 60164085 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:60164085C>T uc001npj.2 + 1 599 c.34C>T c.(34-36)CAC>TAC p.H12Y MS4A14_uc001npi.2_Intron|MS4A14_uc001npn.2_5'UTR|MS4A14_uc001npk.2_Missense_Mutation_p.H12Y|MS4A14_uc001npl.2_5'UTR|MS4A14_uc001npm.2_5'UTR NM_032597 NP_115986 Q96JA4 M4A14_HUMAN membrane-spanning 4-domains, subfamily A, member 12 integral to membrane receptor activity breast(1) 1 AAGGGCAACTCACGTCATCAC 0.453 NaN 0 0 0 0.013537 0 12 27 CD6 923 broad.mit.edu 37 11 60781007 60781007 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:60781007C>T uc001nqq.2 + 7 1486 c.1263C>T c.(1261-1263)TTC>TTT p.F421F CD6_uc009yni.2_Silent_p.F320F|CD6_uc009ynj.2_Silent_p.F298F|CD6_uc001nqp.2_Silent_p.F421F|CD6_uc001nqr.2_Silent_p.F421F|CD6_uc001nqs.2_RNA|CD6_uc001nqt.2_Silent_p.F421F NM_006725 NP_006716 P30203 CD6_HUMAN CD6 molecule precursor 421 Helical; (Potential). cell adhesion cell surface|integral to plasma membrane scavenger receptor activity pancreas(1) 1 TCATAGCCTTCATCCTCTTGA 0.507 NaN 0 0 0 0.01441 0 60 176 DDB1 1642 broad.mit.edu 37 11 61067688 61067688 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:61067688C>T uc001nrc.3 - 27 3569 c.3343G>A c.(3343-3345)GAC>AAC p.D1115N NM_001923 NP_001914 Q16531 DDB1_HUMAN damage-specific DNA binding protein 1 1115 Interaction with CDT1 and CUL4A. cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm damaged DNA binding|protein binding ovary(2)|lung(1)|central_nervous_system(1) 4 CTGCCATCGTCATACTGCAAT 0.592 NaN NER 0 0 0 0.001168 0 5 13 AHNAK 79026 broad.mit.edu 37 11 62297473 62297473 + Silent SNP T T C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:62297473T>C uc001ntl.2 - 5 4716 c.4416A>G c.(4414-4416)ACA>ACG p.T1472T AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 1472 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) CTTTTGGAACTGTTACATCAT 0.398 NaN 0 0 0 0.01441 0 186 191 EML3 256364 broad.mit.edu 37 11 62372641 62372641 + Silent SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:62372641G>C uc001ntu.1 - 16 2234 c.1926C>G c.(1924-1926)CTC>CTG p.L642L EML3_uc001ntr.1_Silent_p.L614L|EML3_uc001nts.1_Silent_p.L614L|EML3_uc001ntt.1_Silent_p.L526L|EML3_uc010rly.1_Silent_p.L642L NM_153265 NP_694997 Q32P44 EMAL3_HUMAN echinoderm microtubule associated protein like 642 cytoplasm|microtubule protein binding ovary(1) 1 AGTCAGCACAGAGACCAGTCT 0.562 NaN 0 0 0 0.004007 0 16 57 GANAB 23193 broad.mit.edu 37 11 62400737 62400737 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:62400737C>T uc001nub.2 - 7 670 c.637G>A c.(637-639)GAG>AAG p.E213K GANAB_uc001nua.2_Missense_Mutation_p.E235K|GANAB_uc001nuc.2_Missense_Mutation_p.E116K|GANAB_uc010rma.1_Missense_Mutation_p.E121K|GANAB_uc010rmb.1_Missense_Mutation_p.E99K NM_198334 NP_938148 Q14697 GANAB_HUMAN neutral alpha-glucosidase AB isoform 2 213 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 CCCTGAGTCTCCTCTGGCTGT 0.522 NaN 0 0 0 0.001984 0 7 157 GANAB 23193 broad.mit.edu 37 11 62406471 62406471 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:62406471C>T uc001nub.2 - 4 397 c.364G>A c.(364-366)GAT>AAT p.D122N GANAB_uc001nua.2_Missense_Mutation_p.D122N|GANAB_uc001nuc.2_Missense_Mutation_p.D25N|GANAB_uc010rma.1_Intron|GANAB_uc010rmb.1_Intron NM_198334 NP_938148 Q14697 GANAB_HUMAN neutral alpha-glucosidase AB isoform 2 122 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 ATTGGTGGATCAGCCACCAAA 0.483 NaN 0 0 0 0.007413 0 20 28 TTC9C 283237 broad.mit.edu 37 11 62505817 62505817 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:62505817G>C uc001nuy.2 + 3 848 c.479G>C c.(478-480)AGA>ACA p.R160T TTC9C_uc001nux.2_Missense_Mutation_p.R293T NM_173810 NP_776171 Q8N5M4 TTC9C_HUMAN tetratricopeptide repeat domain 9C 160 binding ovary(1)|pancreas(1) 2 AGCTACCATAGAAAAGAGAAG 0.458 NaN 0 0 0 0.004672 0 3 18 ZBTB3 79842 broad.mit.edu 37 11 62519909 62519909 + Missense_Mutation SNP C C A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:62519909C>A uc001nuz.2 - 2 1500 c.1378G>T c.(1378-1380)GCT>TCT p.A460S NM_024784 NP_079060 Q9H5J0 ZBTB3_HUMAN zinc finger and BTB domain containing 3 460 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|ovary(1) 3 CTTCCTGGAGCTGCTTCGTAC 0.552 NaN 1 0 7.11191e-15 0.013726 7.46269e-15 34 60 NXF1 10482 broad.mit.edu 37 11 62563940 62563940 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:62563940G>C uc001nvf.1 - 14 1414 c.1278C>G c.(1276-1278)AAC>AAG p.N426K NXF1_uc001nvg.1_3'UTR|NXF1_uc009yog.1_Missense_Mutation_p.N469K NM_006362 NP_006353 Q9UBU9 NXF1_HUMAN nuclear RNA export factor 1 isoform 1 426 NTF2. gene expression|interspecies interaction between organisms cytosol|nuclear speck nucleotide binding|protein binding skin(3) 3 ACCGGGCAGGGTTCTGAGGAA 0.562 NaN 0 0 0 0.008291 0 10 111 SLC22A8 9376 broad.mit.edu 37 11 62767306 62767306 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:62767306C>T uc001nwo.2 - 4 582 c.446G>A c.(445-447)CGC>CAC p.R149H SLC22A8_uc001nwn.1_5'Flank|SLC22A8_uc001nwp.2_Missense_Mutation_p.R149H|SLC22A8_uc009yom.2_Missense_Mutation_p.R26H|SLC22A8_uc010rmm.1_Missense_Mutation_p.R58H|SLC22A8_uc009yon.2_Missense_Mutation_p.R149H NM_004254 NP_004245 Q8TCC7 S22A8_HUMAN solute carrier family 22 member 8 149 Cytoplasmic (Potential). response to toxin basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|organic anion transmembrane transporter activity skin(2)|ovary(1) 3 GATGGGCCTGCGGCCAAACCT 0.627 NaN 0 0 0 0.000602 0 4 22 MARK2 2011 broad.mit.edu 37 11 63668428 63668428 + Splice_Site SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:63668428G>A uc001nxw.2 + 11 1568 c.989_splice c.e11-1 p.E330_splice MARK2_uc001nxx.2_Splice_Site_p.E330_splice|MARK2_uc001nxy.2_Splice_Site_p.E330_splice|MARK2_uc001nxv.3_Splice_Site_p.E330_splice|MARK2_uc001nxz.3_Splice_Site_p.E297_splice|MARK2_uc009yoy.2_Splice_Site_p.E297_splice NM_001039469 NP_001034558 Q7KZI7 MARK2_HUMAN MAP/microtubule affinity-regulating kinase 2 cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress plasma membrane ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity stomach(1)|ovary(1)|lung(1) 3 CCCCTGTGCAGAGCTGATGGT 0.577 NaN 0 0 0 0.01441 0 49 57 GPR137 56834 broad.mit.edu 37 11 64054074 64054074 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:64054074G>A uc001nzg.1 + 2 386 c.78G>A c.(76-78)CTG>CTA p.L26L BAD_uc001nzd.2_5'Flank|BAD_uc001nzc.2_5'Flank|GPR137_uc009ypj.1_Silent_p.L32L|BAD_uc009ypk.2_5'Flank|GPR137_uc010rni.1_Silent_p.L84L|GPR137_uc001nze.1_Silent_p.L26L|GPR137_uc001nzf.2_Silent_p.L26L|GPR137_uc001nzh.1_Silent_p.L26L|GPR137_uc001nzi.2_Silent_p.L26L|GPR137_uc010rnj.1_Silent_p.L26L NM_020155 NP_064540 Q96N19 G137A_HUMAN G protein-coupled receptor 137 26 Extracellular (Potential). integral to membrane central_nervous_system(1) 1 CCCTGGGGCTGACAGCTGCCT 0.617 NaN 0 0 0 0.009535 0 29 87 KCNK4 50801 broad.mit.edu 37 11 64067112 64067112 + Silent SNP A A C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:64067112A>C uc001nzj.1 + 7 1419 c.1096A>C c.(1096-1098)AGA>CGA p.R366R KCNK4_uc001nzk.1_Missense_Mutation_p.E250A|KCNK4_uc010rnk.1_Silent_p.R194R|KCNK4_uc001nzl.1_Missense_Mutation_p.E250A|KCNK4_uc001nzm.3_RNA|KCNK4_uc001nzn.1_Silent_p.R366R|KCNK4_uc001nzo.2_Silent_p.R366R|KCNK4_uc001nzp.1_Silent_p.R252R|C11orf20_uc009ypm.2_5'Flank NM_033310 NP_201567 Q9NYG8 KCNK4_HUMAN TRAAK 366 Cytoplasmic (Potential). integral to membrane potassium channel activity|voltage-gated ion channel activity 0 CCGCGCGCCGAGAGGTCGCCG 0.627 NaN 0 0 0 0.000602 0 4 19 TRMT112 51504 broad.mit.edu 37 11 64084577 64084577 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:64084577C>T uc001nzt.2 - 3 258 c.223G>A c.(223-225)GAG>AAG p.E75K PRDX5_uc001nzu.2_5'Flank|PRDX5_uc001nzv.2_5'Flank|PRDX5_uc001nzw.2_5'Flank|PRDX5_uc001nzx.2_5'Flank NM_016404 NP_057488 Q9UI30 TR112_HUMAN tRNA methyltransferase 11-2 homolog 75 TRM112. peptidyl-glutamine methylation protein complex protein binding|protein methyltransferase activity 0 TCATTCTCCTCATATCCCTCA 0.617 NaN 0 0 0 0.009535 0 27 29 RPS6KA4 8986 broad.mit.edu 37 11 64138842 64138842 + Missense_Mutation SNP A A T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:64138842A>T uc001oae.2 + 17 2292 c.2209A>T c.(2209-2211)AGC>TGC p.S737C RPS6KA4_uc001oad.2_Missense_Mutation_p.S731C|RPS6KA4_uc010rnl.1_Missense_Mutation_p.S674C|RPS6KA4_uc001oaf.2_Missense_Mutation_p.S730C|RPS6KA4_uc009ypp.2_Missense_Mutation_p.S489C NM_003942 NP_003933 O75676 KS6A4_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 737 axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity lung(3)|ovary(1)|breast(1) 5 GAAGCTGCGGAGCGCCACCGC 0.721 NaN 0 0 0 0.001168 0 4 20 SF1 7536 broad.mit.edu 37 11 64536954 64536954 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:64536954G>A uc001obb.1 - 6 984 c.607C>T c.(607-609)CTT>TTT p.L203F SF1_uc010rnm.1_5'Flank|SF1_uc010rnn.1_Missense_Mutation_p.L177F|SF1_uc001oaz.1_Missense_Mutation_p.L328F|SF1_uc001oba.1_Missense_Mutation_p.L203F|SF1_uc001obc.1_Missense_Mutation_p.L203F|SF1_uc001obd.1_Missense_Mutation_p.L203F|SF1_uc001obe.1_Missense_Mutation_p.L88F|SF1_uc010rno.1_Missense_Mutation_p.L88F NM_004630 NP_004621 Q15637 SF01_HUMAN splicing factor 1 isoform 1 203 KH. nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent ribosome|spliceosomal complex protein binding|RNA binding|transcription corepressor activity|zinc ion binding ovary(1)|breast(1)|skin(1) 3 AGGGCATGAAGTGGCTCATCT 0.522 NaN 0 0 0 0.01441 0 141 243 MEN1 4221 broad.mit.edu 37 11 64571923 64571923 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:64571923C>T uc001obj.2 - 10 1804 c.1731G>A c.(1729-1731)TCG>TCA p.S577S MAP4K2_uc001obh.2_5'Flank|MAP4K2_uc001obi.2_5'Flank|MAP4K2_uc010rnp.1_5'Flank|MEN1_uc001obk.2_Silent_p.S577S|MEN1_uc001obl.2_Silent_p.S537S|MEN1_uc001obm.2_Silent_p.S572S|MEN1_uc001obn.2_Silent_p.S577S|MEN1_uc001obo.2_Silent_p.S577S|MEN1_uc001obp.2_Silent_p.S572S|MEN1_uc001obq.2_Silent_p.S577S|MEN1_uc001obr.2_Silent_p.S577S NM_130800 NP_570712 O00255 MEN1_HUMAN menin isoform 1 577 DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding p.S573_A574del(1) parathyroid(105)|pancreas(64)|gastrointestinal_tract_(site_indeterminate)(15)|small_intestine(13)|lung(9)|pituitary(7)|NS(7)|adrenal_gland(5)|soft_tissue(4)|central_nervous_system(4)|thymus(2)|stomach(1)|retroperitoneum(1)|skin(1) 238 TGATGGCGCTCGAGTTGATCT 0.562 NaN D|Mis|N|F|S parathyroid tumors|Pancreatic neuroendocrine tumors parathyroid adenoma|pituitary adenoma|pancreatic islet cell|carcinoid Hyperparathyroidism_Familial_Isolated|Multiple_Endocrine_Neoplasia_type_1 0 0 0 0.01441 0 148 159 MEN1 4221 broad.mit.edu 37 11 64577195 64577195 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:64577195G>A uc001obj.2 - 2 460 c.387C>T c.(385-387)CTC>CTT p.L129L MEN1_uc001obk.2_Silent_p.L129L|MEN1_uc001obl.2_Silent_p.L129L|MEN1_uc001obm.2_Silent_p.L129L|MEN1_uc001obn.2_Silent_p.L129L|MEN1_uc001obo.2_Silent_p.L129L|MEN1_uc001obp.2_Silent_p.L129L|MEN1_uc001obq.2_Silent_p.L129L|MEN1_uc001obr.2_Silent_p.L129L NM_130800 NP_570712 O00255 MEN1_HUMAN menin isoform 1 129 DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding p.I125fs*53(1) parathyroid(105)|pancreas(64)|gastrointestinal_tract_(site_indeterminate)(15)|small_intestine(13)|lung(9)|pituitary(7)|NS(7)|adrenal_gland(5)|soft_tissue(4)|central_nervous_system(4)|thymus(2)|stomach(1)|retroperitoneum(1)|skin(1) 238 AGGAGCGGCTGAGGCTGTTCC 0.572 NaN D|Mis|N|F|S parathyroid tumors|Pancreatic neuroendocrine tumors parathyroid adenoma|pituitary adenoma|pancreatic islet cell|carcinoid Hyperparathyroidism_Familial_Isolated|Multiple_Endocrine_Neoplasia_type_1 0 0 0 0.01441 0 62 119 SLC25A45 283130 broad.mit.edu 37 11 65147003 65147003 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:65147003G>A uc001odp.1 - 4 605 c.183C>T c.(181-183)TTC>TTT p.F61F SLC25A45_uc009yqi.1_Intron|SLC25A45_uc001odq.1_Silent_p.F37F|SLC25A45_uc001odr.1_Silent_p.F61F|SLC25A45_uc001ods.1_Silent_p.F19F|SLC25A45_uc001odt.1_Silent_p.F19F NM_001077241 NP_001070709 Q8N413 S2545_HUMAN solute carrier family 25, member 45 isoform b 61 Solcar 1. transmembrane transport integral to membrane|mitochondrial inner membrane binding 0 TGGCAATGGGGAAGCTCATTC 0.622 NaN 0 0 0 0.004007 0 17 41 FRMD8 83786 broad.mit.edu 37 11 65161130 65161130 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:65161130G>A uc001odu.3 + 4 532 c.340G>A c.(340-342)GAT>AAT p.D114N FRMD8_uc009yqj.2_Missense_Mutation_p.D58N|FRMD8_uc010rof.1_Intron NM_031904 NP_114110 Q9BZ67 FRMD8_HUMAN FERM domain containing 8 114 FERM. cytoskeleton binding lung(1)|pancreas(1) 2 TGCCCCAGACGATGACGTGGC 0.652 NaN 0 0 0 0.000602 0 5 13 PCNXL3 399909 broad.mit.edu 37 11 65401671 65401671 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:65401671G>A uc001oey.2 + 28 4545 c.4545G>A c.(4543-4545)CTG>CTA p.L1515L PCNXL3_uc001oez.2_Silent_p.L402L NM_032223 NP_115599 Q9H6A9 PCX3_HUMAN pecanex-like 3 1515 integral to membrane 0 CGGCAGCCCTGAGGCCTGTGC 0.642 NaN 0 0 0 0.001168 0 5 20 GAL3ST3 89792 broad.mit.edu 37 11 65812872 65812872 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:65812872G>A uc001ogv.2 - 1 175 c.15C>T c.(13-15)CTC>CTT p.L5L GAL3ST3_uc001ogw.2_Silent_p.L5L NM_033036 NP_149025 Q96A11 G3ST3_HUMAN galactose-3-O-sulfotransferase 3 5 Cytoplasmic (Potential). monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi cisterna membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity ovary(1) 1 GCAGGCGCTGGAGGATGGGTG 0.647 NaN OREG0021093 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.000602 0 4 36 RIN1 9610 broad.mit.edu 37 11 66099752 66099752 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:66099752C>G uc001ohn.1 - 10 2474 c.2347G>C c.(2347-2349)GAG>CAG p.E783Q RIN1_uc010roy.1_Missense_Mutation_p.E414Q|RIN1_uc009yrd.1_Missense_Mutation_p.E476Q|RIN1_uc010roz.1_Missense_Mutation_p.E678Q|RIN1_uc010rpa.1_Missense_Mutation_p.E617Q NM_004292 NP_004283 Q13671 RIN1_HUMAN ras inhibitor RIN1 783 endocytosis|signal transduction cytoplasm|cytoskeleton|plasma membrane GTPase activator activity|protein binding lung(2)|breast(1) 3 TCAAGCTACTCCTCTGCTGCC 0.632 NaN 0 0 0 0.01441 0 53 122 RIN1 9610 broad.mit.edu 37 11 66099842 66099842 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:66099842C>G uc001ohn.1 - 10 2384 c.2257G>C c.(2257-2259)GAG>CAG p.E753Q RIN1_uc010roy.1_Missense_Mutation_p.E384Q|RIN1_uc009yrd.1_Missense_Mutation_p.E446Q|RIN1_uc010roz.1_Missense_Mutation_p.E648Q|RIN1_uc010rpa.1_Missense_Mutation_p.E587Q NM_004292 NP_004283 Q13671 RIN1_HUMAN ras inhibitor RIN1 753 endocytosis|signal transduction cytoplasm|cytoskeleton|plasma membrane GTPase activator activity|protein binding lung(2)|breast(1) 3 GCAGTTGTCTCAGACTGTTCC 0.632 NaN 0 0 0 0.01441 0 60 159 NPAS4 266743 broad.mit.edu 37 11 66192561 66192561 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:66192561G>A uc001ohx.1 + 7 2376 c.2200G>A c.(2200-2202)GAG>AAG p.E734K NPAS4_uc010rpc.1_Missense_Mutation_p.E524K NM_178864 NP_849195 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 734 transcription, DNA-dependent DNA binding|signal transducer activity 0 TCCTGAGGCAGAGGGCCCAGG 0.577 NaN 0 0 0 0.007291 0 30 139 BBS1 582 broad.mit.edu 37 11 66291352 66291352 + Missense_Mutation SNP C C G rs141255069 byFrequency TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:66291352C>G uc001oij.1 + 11 1121 c.1109C>G c.(1108-1110)CCG>CGG p.P370R BBS1_uc001oii.1_Missense_Mutation_p.P407R|BBS1_uc010rpg.1_Missense_Mutation_p.P273R|BBS1_uc001oik.1_Missense_Mutation_p.P294R|BBS1_uc001oil.1_Intron|ZDHHC24_uc001oim.1_Intron|ZDHHC24_uc009yrg.1_Intron|BBS1_uc010rph.1_Missense_Mutation_p.P38R NM_024649 NP_078925 Q8NFJ9 BBS1_HUMAN Bardet-Biedl syndrome 1 370 nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis BBSome|cilium membrane|cytoplasm protein binding ovary(1) 1 ATCCACACCCCGGTGAGCCCC 0.587 NaN Bardet-Biedl_syndrome 0 0 0 0.001984 0 6 57 ADRBK1 156 broad.mit.edu 37 11 67051768 67051768 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:67051768C>T uc009yrn.1 + 18 1844 c.1578C>T c.(1576-1578)TTC>TTT p.F526F ADRBK1_uc009yrm.1_Intron NM_001619 NP_001610 P25098 ARBK1_HUMAN beta-adrenergic receptor kinase 1 526 activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway cytosol|soluble fraction alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity large_intestine(1) 1 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) Adenosine triphosphate(DB00171) AGACTGTCTTCGACACCATCA 0.602 NaN 0 0 0 0.00245 0 13 81 SAPS3 55291 broad.mit.edu 37 11 68363635 68363635 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:68363635G>A uc001onw.2 + 19 2254 c.1987G>A c.(1987-1989)GAA>AAA p.E663K SAPS3_uc001onv.2_Missense_Mutation_p.E663K|SAPS3_uc001ony.3_Missense_Mutation_p.E634K|SAPS3_uc001onx.2_Missense_Mutation_p.E657K|SAPS3_uc009ysh.2_Missense_Mutation_p.E583K|SAPS3_uc001onu.2_Missense_Mutation_p.E583K|SAPS3_uc010rqc.1_Missense_Mutation_p.E431K|SAPS3_uc010rqd.1_Missense_Mutation_p.E346K|SAPS3_uc001onz.2_5'UTR|SAPS3_uc001ooa.2_Missense_Mutation_p.E113K NM_001164161 NP_001157633 Q5H9R7 PP6R3_HUMAN SAPS domain family, member 3 isoform 6 663 regulation of phosphoprotein phosphatase activity cytoplasm|nucleus protein phosphatase binding 0 LUAD - Lung adenocarcinoma(13;0.102) AGACTTGTTTGAACCCAGCAG 0.453 NaN 0 0 0 0.01441 0 51 50 CPT1A 1374 broad.mit.edu 37 11 68527743 68527743 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:68527743C>G uc001oog.3 - 17 2262 c.2092G>C c.(2092-2094)GAC>CAC p.D698H CPT1A_uc001oof.3_Missense_Mutation_p.D698H|CPT1A_uc009ysj.2_Intron NM_001876 NP_001867 P50416 CPT1A_HUMAN carnitine palmitoyltransferase 1A liver isoform 698 Cytoplasmic (Potential). carnitine shuttle|fatty acid beta-oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity skin(2) 2 Esophageal squamous(3;3.28e-14) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142) L-Carnitine(DB00583)|Perhexiline(DB01074) TTCTCCAAGTCAAACAGCTCC 0.557 NaN 0 0 0 0.003163 0 16 16 MRGPRD 116512 broad.mit.edu 37 11 68747724 68747724 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:68747724G>A uc010rqf.1 - 1 732 c.732C>T c.(730-732)CTC>CTT p.L244L NM_198923 NP_944605 Q8TDS7 MRGRD_HUMAN MAS-related GPR, member D 244 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity pancreas(1) 1 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) TCAACCAGTAGAGCACAAACC 0.612 NaN 0 0 0 0.008361 0 32 40 CCND1 595 broad.mit.edu 37 11 69458749 69458749 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:69458749C>T uc001opa.2 + 3 773 c.564C>T c.(562-564)CTC>CTT p.L188L NM_053056 NP_444284 P24385 CCND1_HUMAN cyclin D1 188 L -> S (in Ref. 3; AAA52136). cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm protein kinase binding ovary(1)|lung(1) 2 all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348) Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537) Arsenic trioxide(DB01169) TCGTTGCCCTCTGTGCCACAG 0.617 NaN T IGH@|FSTL3 CLL|B-ALL|breast Multiple Myeloma(6;0.086) 0 0 0 0.00245 0 14 12 C2CD3 26005 broad.mit.edu 37 11 73796738 73796738 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:73796738C>T uc001ouu.2 - 21 4062 c.3835G>A c.(3835-3837)GAG>AAG p.E1279K C2CD3_uc001out.2_RNA NM_015531 NP_056346 Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 1279 C2 1. centrosome ovary(4)|pancreas(2)|skin(1) 7 Breast(11;4.16e-06) AAACAGGCCTCTCCACTACAG 0.473 NaN 0 0 0 0.003163 0 16 34 OR2AT4 341152 broad.mit.edu 37 11 74800029 74800029 + Missense_Mutation SNP A A G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:74800029A>G uc010rro.1 - 1 730 c.730T>C c.(730-732)TCC>CCC p.S244P NM_001005285 NP_001005285 A6NND4 O2AT4_HUMAN olfactory receptor, family 2, subfamily AT, 244 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 CTGCAGGTGGAGAAGGCTTTT 0.567 NaN 0 0 0 0.004007 0 14 20 C11orf30 56946 broad.mit.edu 37 11 76255317 76255317 + Silent SNP C C T rs146751469 TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:76255317C>T uc001oxl.2 + 19 2867 c.2724C>T c.(2722-2724)CAC>CAT p.H908H C11orf30_uc001oxm.2_Silent_p.H810H|C11orf30_uc010rsb.1_Silent_p.H923H|C11orf30_uc010rsc.1_Silent_p.H909H|C11orf30_uc001oxn.2_Silent_p.H909H|C11orf30_uc010rsd.1_Silent_p.H817H|C11orf30_uc001oxo.1_Silent_p.H262H|C11orf30_uc010rse.1_Silent_p.H155H|C11orf30_uc001oxp.2_Silent_p.H8H NM_020193 NP_064578 Q7Z589 EMSY_HUMAN EMSY protein 908 chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(5)|skin(1) 6 TAAGCAGTCACACTGCTTTTA 0.403 NaN 0 0 0 0.00499 0 17 41 AQP11 282679 broad.mit.edu 37 11 77301461 77301461 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:77301461G>A uc001oyj.2 + 1 782 c.424G>A c.(424-426)GGT>AGT p.G142S AQP11_uc009yuu.2_Intron NM_173039 NP_766627 Q8NBQ7 AQP11_HUMAN aquaporin 11 142 cell surface|integral to membrane transporter activity 0 all_cancers(14;1.75e-17)|all_epithelial(13;4.7e-20)|Ovarian(111;0.249) Epithelial(5;4.73e-49)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30) GTGGAGCTTGGGTCTGACCCA 0.602 NaN 0 0 0 0.008871 0 20 29 AQP11 282679 broad.mit.edu 37 11 77301511 77301511 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:77301511C>T uc001oyj.2 + 1 832 c.474C>T c.(472-474)CCC>CCT p.P158P AQP11_uc009yuu.2_Intron NM_173039 NP_766627 Q8NBQ7 AQP11_HUMAN aquaporin 11 158 cell surface|integral to membrane transporter activity 0 all_cancers(14;1.75e-17)|all_epithelial(13;4.7e-20)|Ovarian(111;0.249) Epithelial(5;4.73e-49)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30) GCAAGAATCCCATCCGAGTCG 0.567 NaN 0 0 0 0.004656 0 28 49 ODZ4 26011 broad.mit.edu 37 11 78399156 78399156 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:78399156C>T uc001ozl.3 - 29 5666 c.5203G>A c.(5203-5205)GAT>AAT p.D1735N ODZ4_uc009yvb.1_Missense_Mutation_p.D319N NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN odz, odd Oz/ten-m homolog 4 1735 Extracellular (Potential). signal transduction integral to membrane ovary(2)|pancreas(2) 4 ATGGTGACATCATCCTTGCTG 0.562 NaN 0 0 0 0.00333 0 25 78 C11orf82 220042 broad.mit.edu 37 11 82625788 82625788 + Missense_Mutation SNP G G A rs142883872 byFrequency TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:82625788G>A uc001ozt.2 + 3 252 c.8G>A c.(7-9)AGA>AAA p.R3K C11orf82_uc010rsr.1_5'UTR|C11orf82_uc010rss.1_5'UTR|C11orf82_uc009yvd.2_Missense_Mutation_p.R3K NM_145018 NP_659455 Q8IXT1 NOXIN_HUMAN nitric oxide-inducible gene protein 3 apoptosis|cell cycle arrest cytoplasm|nucleus ovary(2) 2 CACATGAACAGAAGACGAAAA 0.398 NaN 0 0 0 0.010729 0 10 52 PCF11 51585 broad.mit.edu 37 11 82877677 82877677 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:82877677G>A uc001ozx.3 + 5 2083 c.1738G>A c.(1738-1740)GAA>AAA p.E580K PCF11_uc010rsu.1_Missense_Mutation_p.E580K NM_015885 NP_056969 O94913 PCF11_HUMAN pre-mRNA cleavage complex II protein Pcf11 580 mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage factor complex ovary(1) 1 GTCAGGCACTGAACCAAAGGA 0.388 NaN 0 0 0 0.006122 0 18 88 PCF11 51585 broad.mit.edu 37 11 82877695 82877695 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:82877695G>A uc001ozx.3 + 5 2101 c.1756G>A c.(1756-1758)GAA>AAA p.E586K PCF11_uc010rsu.1_Missense_Mutation_p.E586K NM_015885 NP_056969 O94913 PCF11_HUMAN pre-mRNA cleavage complex II protein Pcf11 586 mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage factor complex ovary(1) 1 GGAGAATGTAGAAAACTGGCA 0.393 NaN 0 0 0 0.01441 0 62 45 CCDC89 220388 broad.mit.edu 37 11 85396454 85396454 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:85396454G>A uc001pau.1 - 1 867 c.720C>T c.(718-720)CAC>CAT p.H240H NM_152723 NP_689936 Q8N998 CCD89_HUMAN coiled-coil domain containing 89 240 Potential. cytoplasm|nucleus 0 Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572) CAGCCTGCTGGTGCTGCTGCT 0.617 NaN 0 0 0 0.014323 0 19 107 C11orf73 51501 broad.mit.edu 37 11 86048553 86048553 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:86048553C>T uc001pbu.2 + 3 639 c.401C>T c.(400-402)TCA>TTA p.S134L C11orf73_uc001pbt.2_Missense_Mutation_p.S134L|C11orf73_uc010rto.1_RNA|C11orf73_uc010rtp.1_Missense_Mutation_p.S35L|C11orf73_uc001pbv.2_RNA NM_016401 NP_057485 Q53FT3 CK073_HUMAN lethal, Chr 7, Rinchik 6 134 cytoplasm 0 Acute lymphoblastic leukemia(157;1.17e-07)|all_hematologic(158;0.000556) GCTGTATCCTCAGTTGACTCA 0.338 NaN 0 0 0 0.01441 0 48 319 HEPHL1 341208 broad.mit.edu 37 11 93796691 93796692 + Missense_Mutation DNP GG GG AA TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:93796691_93796692GG>AA uc001pep.2 + 3 590_591 c.433_434GG>AA c.(433-435)GGA>AAA p.G145K NM_001098672 NP_001092142 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 precursor 145 Plastocyanin-like 1.|Extracellular (Potential). copper ion transport integral to membrane copper ion binding|oxidoreductase activity ovary(3) 3 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) ATACCCAGATGGAACATCTGGA 0.322 NaN 0 0 0 0.004672 0 6 7 HEPHL1 341208 broad.mit.edu 37 11 93808405 93808405 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:93808405G>A uc001pep.2 + 9 1727 c.1570G>A c.(1570-1572)GAG>AAG p.E524K uc001pen.1_Intron NM_001098672 NP_001092142 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 precursor 524 Plastocyanin-like 3.|Extracellular (Potential). copper ion transport integral to membrane copper ion binding|oxidoreductase activity ovary(3) 3 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) GACAGTGCCTGAGAGCGTAAG 0.468 NaN 0 0 0 0.013537 0 12 21 GPR83 10888 broad.mit.edu 37 11 94113882 94113882 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:94113882G>A uc001pet.2 - 4 877 c.705C>T c.(703-705)TTC>TTT p.F235F NM_016540 NP_057624 Q9NYM4 GPR83_HUMAN G protein-coupled receptor 83 precursor 235 Extracellular (Potential). integral to membrane|plasma membrane neuropeptide Y receptor activity central_nervous_system(2)|ovary(1) 3 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) GGTACTTCCAGAAGAGGTCAG 0.587 NaN 0 0 0 0.000602 0 5 20 GPR83 10888 broad.mit.edu 37 11 94113903 94113903 + Missense_Mutation SNP G G T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:94113903G>T uc001pet.2 - 4 856 c.684C>A c.(682-684)TTC>TTA p.F228L NM_016540 NP_057624 Q9NYM4 GPR83_HUMAN G protein-coupled receptor 83 precursor 228 Extracellular (Potential). integral to membrane|plasma membrane neuropeptide Y receptor activity central_nervous_system(2)|ovary(1) 3 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) CTGGCTCAGGGAAGTCTGGCA 0.572 NaN 1 0 5.9392e-07 0.001168 6.10519e-07 5 24 MMP12 4321 broad.mit.edu 37 11 102736603 102736603 + Missense_Mutation SNP G G T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:102736603G>T uc001phk.2 - 9 1154 c.1109C>A c.(1108-1110)TCT>TAT p.S370Y NM_002426 NP_002417 P39900 MMP12_HUMAN matrix metalloproteinase 12 preproprotein 370 Hemopexin-like 2. 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) AAAACCAAAAGAATGTATGCT 0.328 NaN 1 0 4.36969e-10 0.001855 4.54565e-10 13 24 CASP1 834 broad.mit.edu 37 11 104899926 104899926 + Nonsense_Mutation SNP C C A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:104899926C>A uc010rve.1 - 7 948 c.931G>T c.(931-933)GAA>TAA p.E311* CASP1_uc001pig.2_Nonsense_Mutation_p.E218*|CASP1_uc001pik.2_Nonsense_Mutation_p.E274*|CASP1_uc010rvf.1_Nonsense_Mutation_p.E218*|CASP1_uc010rvg.1_Nonsense_Mutation_p.E290*|CASP1_uc010rvh.1_Intron|CASP1_uc010rvi.1_Intron|CASP1_uc001pim.3_Nonsense_Mutation_p.E311*|CASP1_uc009yxi.2_Nonsense_Mutation_p.E290*|CASP1_uc010rvj.1_Nonsense_Mutation_p.E311*|CASP1_uc009yxj.2_Nonsense_Mutation_p.E156*|CASP1_uc010rvk.1_Nonsense_Mutation_p.E272* NM_033292 NP_150634 P29466 CASP1_HUMAN caspase 1 isoform alpha precursor 311 cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction cytosol caspase activator activity|cysteine-type endopeptidase activity|protein binding ovary(2) 2 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482) Minocycline(DB01017)|Penicillamine(DB00859) TCAAACTCTTCTGTAGTTGGT 0.413 NaN 1 0 9.16793e-09 0.00499 9.49614e-09 16 40 GUCY1A2 2977 broad.mit.edu 37 11 106680837 106680837 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:106680837G>A uc001pjg.1 - 5 1964 c.1574C>T c.(1573-1575)TCA>TTA p.S525L GUCY1A2_uc010rvo.1_Missense_Mutation_p.S546L|GUCY1A2_uc009yxn.1_Missense_Mutation_p.S525L NM_000855 NP_000846 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 525 Guanylate cyclase. 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) AACAATGTCTGAAAAGAGCAT 0.453 NaN 0 0 0 0.006122 0 18 41 RAB39 54734 broad.mit.edu 37 11 107799300 107799300 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:107799300G>C uc001pjt.2 + 1 24 c.6G>C c.(4-6)GAG>GAC p.E2D NM_017516 NP_059986 Q14964 RB39A_HUMAN RAB39, member RAS oncogene family 2 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding 0 BRCA - Breast invasive adenocarcinoma(274;3.04e-05)|Epithelial(105;8.56e-05)|all cancers(92;0.00179) GAGCGATGGAGACCATCTGGA 0.632 NaN 0 0 0 0.009096 0 4 5 CUL5 8065 broad.mit.edu 37 11 107968457 107968457 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:107968457C>T uc001pjv.2 + 17 2667 c.2000C>T c.(1999-2001)TCA>TTA p.S667L CUL5_uc001pju.2_RNA NM_003478 NP_003469 Q93034 CUL5_HUMAN Vasopressin-activated calcium-mobilizing 667 cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction cullin-RING ubiquitin ligase complex|cytosol calcium channel activity|receptor activity|ubiquitin protein ligase binding ovary(1) 1 all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217) ACCCTCTTCTCAGTGAACCAG 0.348 NaN 0 0 0 0.00333 0 23 47 PPP2R1B 5519 broad.mit.edu 37 11 111614220 111614220 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:111614220G>A uc001plx.1 - 12 1518 c.1434C>T c.(1432-1434)CTC>CTT p.L478L PPP2R1B_uc001plw.1_Silent_p.L478L|PPP2R1B_uc010rwi.1_Silent_p.L414L|PPP2R1B_uc010rwj.1_Silent_p.L317L|PPP2R1B_uc010rwk.1_Silent_p.L433L|PPP2R1B_uc010rwl.1_Silent_p.L351L NM_002716 NP_002707 P30154 2AAB_HUMAN beta isoform of regulatory subunit A, protein 478 HEAT 12. protein binding 0 all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-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) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761) CTAGTTTCATGAGGTTGTTGG 0.383 NaN 0 0 0 0.01441 0 49 83 C11orf1 64776 broad.mit.edu 37 11 111753253 111753253 + Silent SNP G G T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:111753253G>T uc001pmd.2 + 2 544 c.207G>T c.(205-207)CTG>CTT p.L69L C11orf1_uc001pme.2_Silent_p.L109L NM_022761 NP_073598 Q9H5F2 CK001_HUMAN hypothetical protein LOC64776 69 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) ACCGTACCCTGATGGGCAACT 0.438 NaN 1 0 4.3838e-07 0.001855 4.5106e-07 13 16 CLDN25 644672 broad.mit.edu 37 11 113651192 113651192 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:113651192G>A uc009yyw.1 + 1 675 c.675G>A c.(673-675)AGG>AGA p.R225R NM_001101389 NP_001094859 C9JDP6 CLD25_HUMAN claudin 25 225 Cytoplasmic (Potential). integral to membrane|tight junction structural molecule activity 0 TAAGACCTAGGAACCTGGTCA 0.498 NaN 0 0 0 0.010504 0 21 50 MLL 4297 broad.mit.edu 37 11 118348840 118348840 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 G A G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:118348840G>A uc001pta.2 + 5 3516 c.3493G>A c.(3493-3495)GAG>AAG p.E1165K MLL_uc001ptb.2_Missense_Mutation_p.E1165K NM_005933 NP_005924 Q03164 MLL1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 1165 CXXC-type. apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1) 25 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) CCAGGTGCCTGAGGACTGTGG 0.498 NaN T|O MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB AML|ALL 0 0 0 0.01441 0 50 96 BCL9L 283149 broad.mit.edu 37 11 118773239 118773239 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:118773239C>T uc001pug.2 - 6 2178 c.1213G>A c.(1213-1215)GAG>AAG p.E405K BCL9L_uc009zal.2_Missense_Mutation_p.E400K NM_182557 NP_872363 Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like 405 Pro-rich.|Necessary for interaction with CTNNB1 (By similarity). negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity ovary(1)|pancreas(1) 2 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) TCCCGATGCTCCAGCTGCTCT 0.687 NaN 0 0 0 0.00308 0 6 19 NLRX1 79671 broad.mit.edu 37 11 119044232 119044232 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:119044232C>G uc001pvu.2 + 5 489 c.274C>G c.(274-276)CGG>GGG p.R92G NLRX1_uc010rzc.1_5'UTR|NLRX1_uc001pvv.2_Missense_Mutation_p.R92G|NLRX1_uc001pvw.2_Missense_Mutation_p.R92G|NLRX1_uc001pvx.2_Missense_Mutation_p.R92G NM_024618 NP_078894 Q86UT6 NLRX1_HUMAN NLR family member X1 isoform 1 92 Required for interaction with MAVS. innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production mitochondrial outer membrane ATP binding ovary(1)|skin(1) 2 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) GTGGTTCAGCCGGCTGCCCAG 0.587 NaN 0 0 0 0.004007 0 16 38 NLRX1 79671 broad.mit.edu 37 11 119044292 119044292 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:119044292G>A uc001pvu.2 + 5 549 c.334G>A c.(334-336)GAC>AAC p.D112N NLRX1_uc010rzc.1_5'UTR|NLRX1_uc001pvv.2_Missense_Mutation_p.D112N|NLRX1_uc001pvw.2_Missense_Mutation_p.D112N|NLRX1_uc001pvx.2_Missense_Mutation_p.D112N NM_024618 NP_078894 Q86UT6 NLRX1_HUMAN NLR family member X1 isoform 1 112 Required for interaction with MAVS. innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production mitochondrial outer membrane ATP binding ovary(1)|skin(1) 2 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) GGTCCACGTTGACCCTGTGAT 0.672 NaN 0 0 0 0.012319 0 22 30 NLRX1 79671 broad.mit.edu 37 11 119050897 119050897 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:119050897G>A uc001pvu.2 + 7 2382 c.2167G>A c.(2167-2169)GGA>AGA p.G723R NLRX1_uc010rzc.1_Missense_Mutation_p.G545R|NLRX1_uc001pvv.2_Missense_Mutation_p.G723R|NLRX1_uc001pvw.2_Missense_Mutation_p.G723R|NLRX1_uc001pvx.2_Missense_Mutation_p.G723R NM_024618 NP_078894 Q86UT6 NLRX1_HUMAN NLR family member X1 isoform 1 723 Required for the repression of MAVS- induced interferon signaling. innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production mitochondrial outer membrane ATP binding ovary(1)|skin(1) 2 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) GCTGGGCAGCGGAAGGCATGC 0.637 NaN 0 0 0 0.00245 0 13 24 MCAM 4162 broad.mit.edu 37 11 119181552 119181552 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:119181552G>A uc001pwf.2 - 14 1736 c.1707C>T c.(1705-1707)ATC>ATT p.I569I MCAM_uc001pwg.1_RNA NM_006500 NP_006491 P43121 MUC18_HUMAN melanoma cell adhesion molecule 569 Helical; (Potential). anatomical structure morphogenesis|cell adhesion integral to membrane|plasma membrane ovary(2)|breast(1)|central_nervous_system(1) 4 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;3.78e-05) CCAGGACCAGGATGCACACAA 0.617 NaN 0 0 0 0.012319 0 20 45 TECTA 7007 broad.mit.edu 37 11 120989420 120989420 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:120989420G>C uc010rzo.1 + 6 1196 c.1196G>C c.(1195-1197)AGA>ACA p.R399T NM_005422 NP_005413 O75443 TECTA_HUMAN tectorin alpha precursor 399 VWFD 1. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix breast(6)|ovary(2)|skin(2) 10 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) AGCTATGGAAGAGTCAAGGTG 0.507 NaN 0 0 0 0.008871 0 21 42 SC5DL 6309 broad.mit.edu 37 11 121174160 121174160 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:121174160G>C uc001pxu.2 + 2 224 c.76G>C c.(76-78)GAC>CAC p.D26H SC5DL_uc001pxs.1_Missense_Mutation_p.D26H|SC5DL_uc001pxt.2_Missense_Mutation_p.D26H|SC5DL_uc001pxv.2_Missense_Mutation_p.D26H NM_006918 NP_008849 O75845 SC5D_HUMAN sterol-C5-desaturase 26 fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane C-5 sterol desaturase activity|iron ion binding|lathosterol oxidase activity ovary(1) 1 Breast(109;0.00328)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) OV - Ovarian serous cystadenocarcinoma(1;0.0334) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.144) GCCAGAAGATGACATCTTCCG 0.383 NaN 0 0 0 0.010818 0 30 56 SORL1 6653 broad.mit.edu 37 11 121460047 121460047 + Nonsense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:121460047G>A uc001pxx.2 + 29 4106 c.4026G>A c.(4024-4026)TGG>TGA p.W1342* SORL1_uc010rzp.1_Nonsense_Mutation_p.W188*|SORL1_uc010rzq.1_5'Flank NM_003105 NP_003096 Q92673 SORL_HUMAN sortilin-related receptor containing LDLR class 1342 Extracellular (Potential).|LDL-receptor class A 7. cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1) 15 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) GTTTGATTTGGAAGTGCGACG 0.478 NaN 0 0 0 0.01441 0 53 113 DCPS 28960 broad.mit.edu 37 11 126215464 126215464 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:126215464G>A uc001qdp.2 + 6 1299 c.970G>A c.(970-972)GAC>AAC p.D324N uc001qdq.1_Intron NM_014026 NP_054745 Q96C86 DCPS_HUMAN mRNA decapping enzyme 324 deadenylation-dependent decapping of nuclear-transcribed mRNA|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|nucleus exoribonuclease activity|protein binding 0 all_hematologic(175;0.145) Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604) BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08) CCTCAGGGCTGACGACCCCCT 0.607 NaN 0 0 0 0.013726 0 30 81 KCNJ1 3758 broad.mit.edu 37 11 128709337 128709337 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:128709337G>A uc001qeo.1 - 2 910 c.859C>T c.(859-861)CTC>TTC p.L287F KCNJ1_uc001qep.1_Missense_Mutation_p.L268F|KCNJ1_uc001qeq.1_Missense_Mutation_p.L268F|KCNJ1_uc001qer.1_Missense_Mutation_p.L268F|KCNJ1_uc001qes.1_Missense_Mutation_p.L268F NM_000220 NP_000211 P48048 IRK1_HUMAN potassium inwardly-rectifying channel J1 isoform 287 Cytoplasmic (By similarity). excretion voltage-gated potassium channel complex ATP binding|inward rectifier potassium channel activity ovary(3)|breast(1) 4 all_hematologic(175;0.0641) all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942) Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124) TCCTGCTGGAGAAGGGTCTCC 0.483 NaN 0 0 0 0.01441 0 53 49 ARHGAP32 9743 broad.mit.edu 37 11 128936684 128936684 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:128936684C>T uc009zcp.2 - 6 569 c.569G>A c.(568-570)CGA>CAA p.R190Q ARHGAP32_uc009zcq.1_Missense_Mutation_p.R150Q|ARHGAP32_uc001qfb.2_5'UTR NM_001142685 NP_001136157 A7KAX9 RHG32_HUMAN Rho GTPase-activating protein isoform 1 190 PX; atypical. cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding lung(3)|ovary(2) 5 GGAAAATCTTCGGTCATAAAT 0.368 NaN 0 0 0 0.007413 0 20 28 ADAMTS8 11095 broad.mit.edu 37 11 130278816 130278816 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:130278816C>G uc001qgg.3 - 7 2128 c.1770G>C c.(1768-1770)CAG>CAC p.Q590H ADAMTS8_uc001qgf.2_Missense_Mutation_p.Q71H NM_007037 NP_008968 Q9UP79 ATS8_HUMAN ADAM metallopeptidase with thrombospondin type 1 590 Cys-rich. negative regulation of cell proliferation|proteolysis proteinaceous extracellular matrix heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding central_nervous_system(1) 1 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213) TCTCACACTGCTGCTCCCTGA 0.547 NaN 0 0 0 0.005443 0 27 85 SNX19 399979 broad.mit.edu 37 11 130785628 130785628 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:130785628G>A uc001qgk.3 - 1 755 c.207C>T c.(205-207)CTC>CTT p.L69L SNX19_uc010sce.1_Intron|SNX19_uc010scf.1_Intron|SNX19_uc010scg.1_Intron|SNX19_uc001qgl.3_Silent_p.L69L|SNX19_uc009zcx.1_Intron NM_014758 NP_055573 Q92543 SNX19_HUMAN sorting nexin 19 69 cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding|protein binding ovary(2)|lung(2) 4 all_hematologic(175;0.0597) Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233) CCACTCCAGCGAGGCTGGAGC 0.602 NaN 0 0 0 0.004007 0 14 30 JAM3 83700 broad.mit.edu 37 11 134014688 134014688 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:134014688G>A uc001qhb.1 + 5 570 c.546G>A c.(544-546)GTG>GTA p.V182V JAM3_uc009zcz.1_Silent_p.V131V NM_032801 NP_116190 Q9BX67 JAM3_HUMAN junctional adhesion molecule 3 precursor 137 Extracellular (Potential). angiogenesis|blood coagulation|regulation of neutrophil chemotaxis cell-cell contact zone|desmosome|extracellular space|integral to membrane integrin binding ovary(1) 1 all_hematologic(175;0.127) all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566) Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245) TCCCCACAGTGAAGCCAGTGA 0.537 NaN 0 0 0 0.008871 0 19 48 GLB1L2 89944 broad.mit.edu 37 11 134214971 134214971 + Missense_Mutation SNP C C A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr11:134214971C>A uc001qhp.2 + 4 585 c.397C>A c.(397-399)CTG>ATG p.L133M GLB1L2_uc009zdg.1_5'Flank NM_138342 NP_612351 Q8IW92 GLBL2_HUMAN galactosidase, beta 1-like 2 precursor 133 carbohydrate metabolic process extracellular region cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds ovary(1)|pancreas(1)|skin(1) 3 all_hematologic(175;0.127) all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844) Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223) GTGGGTGATTCTGCGTCCAGG 0.637 NaN 1 0 0.00909568 0.009096 0.00921888 4 10 B4GALNT3 283358 broad.mit.edu 37 12 662717 662717 + Missense_Mutation SNP A A G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:662717A>G uc001qii.1 + 14 1628 c.1628A>G c.(1627-1629)CAG>CGG p.Q543R B4GALNT3_uc001qij.1_Missense_Mutation_p.Q446R|B4GALNT3_uc001qik.1_Missense_Mutation_p.Q92R NM_173593 NP_775864 Q6L9W6 B4GN3_HUMAN beta 543 Lumenal (Potential). Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity ovary(1)|skin(1) 2 all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215) OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262) AACCTGCCTCAGATGAGGGGG 0.617 NaN 0 0 0 0.012319 0 23 13 FOXM1 2305 broad.mit.edu 37 12 2968485 2968485 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:2968485C>T uc001qlf.2 - 9 1876 c.1611G>A c.(1609-1611)GAG>GAA p.E537E uc001qld.2_Intron|FOXM1_uc001qle.2_Silent_p.E575E|FOXM1_uc001qlg.2_Silent_p.E522E|FOXM1_uc009zea.2_Silent_p.E522E|FOXM1_uc009zeb.2_Silent_p.E521E NM_021953 NP_068772 Q08050 FOXM1_HUMAN forkhead box M1 isoform 2 537 cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis cytoplasm|transcription factor complex DNA bending activity|DNA binding|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding central_nervous_system(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(31;0.000622) TCTCCCTCCTCTCCCTGTGTT 0.577 NaN 0 0 0 0.012213 0 30 49 ANO2 57101 broad.mit.edu 37 12 5936945 5936945 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:5936945G>C uc001qnm.2 - 7 942 c.870C>G c.(868-870)AAC>AAG p.N290K NM_020373 NP_065106 Q9NQ90 ANO2_HUMAN anoctamin 2 295 Cytoplasmic (Potential). chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity ovary(4)|large_intestine(2)|central_nervous_system(1) 7 CCATCGTGTTGTTGGCTCGGG 0.657 NaN 0 0 0 0.009096 0 3 4 SCNN1A 6337 broad.mit.edu 37 12 6457910 6457910 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:6457910C>T uc001qnx.2 - 12 1901 c.1612G>A c.(1612-1614)GAG>AAG p.E538K SCNN1A_uc001qnv.2_Missense_Mutation_p.E238K|SCNN1A_uc001qnw.2_Missense_Mutation_p.E597K|SCNN1A_uc010sfb.1_Missense_Mutation_p.E561K NM_001038 NP_001029 P37088 SCNNA_HUMAN sodium channel, nonvoltage-gated 1 alpha isoform 538 Extracellular (By similarity). excretion|response to stimulus|sensory perception of taste apical plasma membrane WW domain binding 0 Amiloride(DB00594)|Triamterene(DB00384) GAGGGAGACTCAGAATTGGTT 0.522 NaN 0 0 0 0.00278 0 25 42 CD4 920 broad.mit.edu 37 12 6926360 6926360 + Silent SNP G G T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:6926360G>T uc001qqv.1 + 7 1265 c.1020G>T c.(1018-1020)CTG>CTT p.L340L CD4_uc010sfj.1_Silent_p.L67L|CD4_uc009zfc.1_Silent_p.L161L|CD4_uc010sfk.1_Silent_p.L67L|CD4_uc010sfl.1_Silent_p.L67L|CD4_uc010sfm.1_Silent_p.L67L NM_000616 NP_000607 P01730 CD4_HUMAN CD4 antigen precursor 340 Ig-like C2-type 3.|Extracellular (Potential). cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding 0 Myeloproliferative disorder(1001;0.0122) AGCTGATGCTGAGTTTGAAAC 0.567 NaN 1 0 1.12685e-05 0.004482 1.1518e-05 9 18 PHB2 11331 broad.mit.edu 37 12 7078670 7078670 + Missense_Mutation SNP C C A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:7078670C>A uc001qsd.2 - 3 493 c.283G>T c.(283-285)GGC>TGC p.G95C PHB2_uc010sft.1_Missense_Mutation_p.G95C|PHB2_uc010sfu.1_Missense_Mutation_p.G95C|EMG1_uc009zfo.2_5'Flank|EMG1_uc001qsh.3_5'Flank|EMG1_uc010sfv.1_5'Flank NM_001144831 NP_001138303 Q99623 PHB2_HUMAN prohibitin 2 isoform 1 95 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial inner membrane|nucleus estrogen receptor binding|receptor activity ovary(2)|pancreas(1) 3 CCTTTGGAGCCTGTAGGGGAG 0.507 NaN 1 0 1.9806e-07 0.014323 2.04176e-07 19 48 A2ML1 144568 broad.mit.edu 37 12 8988871 8988871 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:8988871G>A uc001quz.3 + 7 762 c.664G>A c.(664-666)GAA>AAA p.E222K NM_144670 NP_653271 A8K2U0 A2ML1_HUMAN alpha-2-macroglobulin-like 1 precursor 66 extracellular space endopeptidase inhibitor activity ovary(2)|skin(1) 3 GTTTAAGGTGGAAGTGGTGGA 0.448 NaN 0 0 0 0.010729 0 10 30 CDKN1B 1027 broad.mit.edu 37 12 12871770 12871770 + Nonsense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:12871770C>T uc001rat.2 + 2 959 c.487C>T c.(487-489)CAA>TAA p.Q163* NM_004064 NP_004055 P46527 CDN1B_HUMAN cyclin-dependent kinase inhibitor 1B 163 Nuclear localization signal (Potential). autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle cytosol|endosome|nucleoplasm cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity ovary(1)|lung(1) 2 Prostate(47;0.0322)|all_epithelial(100;0.159) BRCA - Breast invasive adenocarcinoma(232;0.0336) TTCTTCTACTCAAAACAAAAG 0.448 NaN Multiple_Endocrine_Neoplasia_type_1|Multiple_Endocrine_Neoplasia_type_4 0 0 0 0.01441 0 72 33 SLCO1C1 53919 broad.mit.edu 37 12 20864431 20864431 + Silent SNP C C A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:20864431C>A uc001rej.3 + 6 871 c.516C>A c.(514-516)TCC>TCA p.S172S SLCO1C1_uc010sii.1_Silent_p.S172S|SLCO1C1_uc010sij.1_Silent_p.S172S|SLCO1C1_uc009zip.2_Silent_p.S6S|SLCO1C1_uc001rei.2_Silent_p.S172S|SLCO1C1_uc010sik.1_Silent_p.S54S NM_017435 NP_059131 Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, 172 Extracellular (Potential). sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity ovary(5)|pancreas(1)|skin(1) 7 Esophageal squamous(101;0.149) AATCAAAATCCAAAATAAGTA 0.343 NaN 1 0 2.32416e-17 0.014323 2.45064e-17 23 39 BHLHE41 79365 broad.mit.edu 37 12 26277470 26277470 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:26277470C>T uc001rhb.2 - 2 399 c.108G>A c.(106-108)ATG>ATA p.M36I NM_030762 NP_110389 Q9C0J9 BHE41_HUMAN basic helix-loop-helix domain containing, class 36 cell differentiation|cell proliferation|organ morphogenesis nucleus DNA binding|sequence-specific DNA binding transcription factor activity 0 CGTCTCGTTTCATGCTCCTTT 0.478 NaN 0 0 0 0.003755 0 35 19 ITPR2 3709 broad.mit.edu 37 12 26943129 26943129 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:26943129C>T uc001rhg.2 - 2 541 c.124G>A c.(124-126)GAG>AAG p.E42K ITPR2_uc001rhh.1_Intron|ITPR2_uc001rhi.1_Missense_Mutation_p.E42K NM_002223 NP_002214 Q14571 ITPR2_HUMAN inositol 1,4,5-triphosphate receptor, type 2 42 Cytoplasmic (Potential). activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 14 Colorectal(261;0.0847) TCCCCGGCCTCTGGGTGCACC 0.408 NaN 0 0 0 0.00245 0 13 34 DDX11 1663 broad.mit.edu 37 12 31240903 31240903 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:31240903G>A uc001rjt.1 + 6 921 c.670G>A c.(670-672)GAA>AAA p.E224K DDX11_uc010sjw.1_Missense_Mutation_p.E224K|DDX11_uc010sjx.1_RNA|DDX11_uc001rjr.1_Missense_Mutation_p.E224K|DDX11_uc001rjs.1_Missense_Mutation_p.E224K|DDX11_uc001rju.1_5'UTR|DDX11_uc001rjv.1_Missense_Mutation_p.E224K|DDX11_uc001rjw.1_Missense_Mutation_p.E198K|DDX11_uc001rjx.1_5'UTR|DDX11_uc009zjn.1_5'Flank NM_152438 NP_689651 Q96FC9 DDX11_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 224 Glu-rich.|Helicase ATP-binding. G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion midbody|nuclear chromatin|nucleolus|spindle pole ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding breast(3) 3 all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) CCTGGAGGAAGAACACATAAC 0.532 NaN Multiple Myeloma(12;0.14) 0 0 0 0.000602 0 5 11 SYT10 341359 broad.mit.edu 37 12 33592424 33592424 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:33592424G>A uc001rll.1 - 1 331 c.34C>T c.(34-36)CTG>TTG p.L12L SYT10_uc009zju.1_5'UTR NM_198992 NP_945343 Q6XYQ8 SYT10_HUMAN synaptotagmin X 12 Vesicular (Potential). cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity ovary(1)|skin(1) 2 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) TTCTGGCACAGACTGTTCACT 0.552 NaN 0 0 0 0.01441 0 44 100 ABCD2 225 broad.mit.edu 37 12 39947845 39947845 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:39947845C>T uc001rmb.2 - 10 2518 c.2092G>A c.(2092-2094)GAA>AAA p.E698K NM_005164 NP_005155 Q9UBJ2 ABCD2_HUMAN ATP-binding cassette, sub-family D, member 2 698 ABC transporter. fatty acid metabolic process|transport ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane ATP binding|ATPase activity|protein binding ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)|skin(1) 6 TGTTTTTCTTCACTCAATGTC 0.383 NaN 0 0 0 0.009535 0 32 15 LRRK2 120892 broad.mit.edu 37 12 40749951 40749951 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:40749951G>A uc001rmg.3 + 46 6926 c.6805G>A c.(6805-6807)GAT>AAT p.D2269N LRRK2_uc009zjw.2_Missense_Mutation_p.D1107N|LRRK2_uc001rmi.2_Missense_Mutation_p.D1102N NM_198578 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 2269 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1) 24 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) TGGAACCGCTGATGGCAAGTT 0.224 NaN 0 0 0 0.001984 0 7 14 ANO6 196527 broad.mit.edu 37 12 45781986 45781986 + Missense_Mutation SNP T T C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:45781986T>C uc001roo.2 + 11 1543 c.1208T>C c.(1207-1209)CTT>CCT p.L403P ANO6_uc010sld.1_Missense_Mutation_p.L403P|ANO6_uc010sle.1_Missense_Mutation_p.L403P|ANO6_uc010slf.1_Missense_Mutation_p.L424P|ANO6_uc010slg.1_Missense_Mutation_p.L385P NM_001025356 NP_001020527 Q4KMQ2 ANO6_HUMAN anoctamin 6 isoform a 403 Cytoplasmic (Potential). activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet chloride channel complex|plasma membrane chloride channel activity ovary(1)|kidney(1) 2 CAGGCAGAACTTGAGTATGAA 0.423 NaN 0 0 0 0.01441 0 76 135 SLC38A1 81539 broad.mit.edu 37 12 46582754 46582754 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:46582754C>T uc001rpa.2 - 17 1721 c.1463G>A c.(1462-1464)TGA>TAA p.*488* SLC38A1_uc001rpb.2_Silent_p.*488*|SLC38A1_uc001rpc.2_Silent_p.*488*|SLC38A1_uc001rpd.2_Silent_p.*488*|SLC38A1_uc001rpe.2_Silent_p.*488* NM_030674 NP_109599 Q9H2H9 S38A1_HUMAN amino acid transporter system A1 488 cellular nitrogen compound metabolic process|neurotransmitter uptake integral to membrane|plasma membrane sodium:amino acid symporter activity ovary(2)|skin(2)|central_nervous_system(1) 5 Lung SC(27;0.137)|Renal(347;0.236) all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344) CGGCGGGTTTCAGTGGCCTTC 0.507 NaN 0 0 0 0.008871 0 17 65 DDN 23109 broad.mit.edu 37 12 49391911 49391911 + Nonsense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:49391911G>A uc001rsv.1 - 2 766 c.748C>T c.(748-750)CAG>TAG p.Q250* uc001rsw.2_5'Flank NM_015086 NP_055901 O94850 DEND_HUMAN dendrin 250 dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon large_intestine(1) 1 GTGGGCACCTGAGAGTTCCCG 0.657 NaN 0 0 0 0.001855 0 14 69 MLL2 8085 broad.mit.edu 37 12 49434778 49434778 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 C T C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:49434778C>T uc001rta.3 - 31 6775 c.6775G>A c.(6775-6777)GAG>AAG p.E2259K NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 2259 Pro-rich. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 CCAGGGCTCTCAGGCACAGCC 0.632 NaN N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 0 0 0 0.008871 0 16 34 MLL2 8085 broad.mit.edu 37 12 49445264 49445264 + Silent SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:49445264G>C uc001rta.3 - 10 2202 c.2202C>G c.(2200-2202)CTC>CTG p.L734L NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 734 Pro-rich. Missing (in Ref. 1; AAC51734). 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 ACCGGGGGCAGAGTTGCGGCT 0.692 NaN N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 0 0 0 0.008291 0 4 23 PRPH 5630 broad.mit.edu 37 12 49689233 49689233 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:49689233G>A uc001rtu.2 + 1 325 c.250G>A c.(250-252)GAG>AAG p.E84K NM_006262 NP_006253 P41219 PERI_HUMAN peripherin 84 Head. structural molecule activity 0 CTCCATGGCCGAGGCCCTCAA 0.682 NaN 0 0 0 0.001168 0 6 7 PRPF40B 25766 broad.mit.edu 37 12 50036100 50036100 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:50036100G>A uc001rur.1 + 19 1965 c.1901G>A c.(1900-1902)CGA>CAA p.R634Q FMNL3_uc001ruv.1_3'UTR|FMNL3_uc001ruw.1_3'UTR|PRPF40B_uc001rup.1_Missense_Mutation_p.R656Q|PRPF40B_uc001ruq.1_Missense_Mutation_p.R621Q|PRPF40B_uc001rus.1_Missense_Mutation_p.R577Q|FMNL3_uc001rut.1_3'UTR|FMNL3_uc001ruu.1_3'UTR NM_001031698 NP_001026868 Q6NWY9 PR40B_HUMAN Huntingtin interacting protein C isoform 1 634 mRNA processing|RNA splicing nuclear speck skin(2)|ovary(1)|pancreas(1)|kidney(1) 5 GCTGCCTTTCGAAGCATGCTG 0.642 NaN 0 0 0 0.01441 0 45 55 PRPF40B 25766 broad.mit.edu 37 12 50037941 50037941 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:50037941G>A uc001rur.1 + 25 2646 c.2582G>A c.(2581-2583)CGG>CAG p.R861Q FMNL3_uc001ruv.1_3'UTR|FMNL3_uc001ruw.1_3'UTR|PRPF40B_uc001ruq.1_Missense_Mutation_p.R848Q|PRPF40B_uc001rus.1_Missense_Mutation_p.R803Q|FMNL3_uc001rut.1_3'UTR|FMNL3_uc001ruu.1_3'UTR NM_001031698 NP_001026868 Q6NWY9 PR40B_HUMAN Huntingtin interacting protein C isoform 1 861 mRNA processing|RNA splicing nuclear speck skin(2)|ovary(1)|pancreas(1)|kidney(1) 5 AGGCGGCGGCGGACACTCCTA 0.597 NaN OREG0021798 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.00308 0 4 29 DIP2B 57609 broad.mit.edu 37 12 51130885 51130885 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:51130885C>G uc001rwv.2 + 35 4324 c.4168C>G c.(4168-4170)CTT>GTT p.L1390V DIP2B_uc009zlt.2_Missense_Mutation_p.L820V NM_173602 NP_775873 Q9P265 DIP2B_HUMAN DIP2 disco-interacting protein 2 homolog B 1390 nucleus catalytic activity|transcription factor binding ovary(4)|breast(1)|pancreas(1) 6 AGACTCTCACCTTGGAGAGGT 0.358 NaN 0 0 0 0.00623 0 37 143 LETMD1 25875 broad.mit.edu 37 12 51450271 51450271 + Nonsense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:51450271C>T uc001rxm.2 + 7 957 c.901C>T c.(901-903)CAG>TAG p.Q301* LETMD1_uc010smz.1_Nonsense_Mutation_p.Q251*|LETMD1_uc010sna.1_Missense_Mutation_p.S138L|LETMD1_uc001rxl.2_Nonsense_Mutation_p.Q245*|LETMD1_uc009zlv.2_RNA|LETMD1_uc001rxs.2_Missense_Mutation_p.S138L|LETMD1_uc009zlw.2_Nonsense_Mutation_p.Q314*|LETMD1_uc001rxn.2_Nonsense_Mutation_p.Q144*|LETMD1_uc001rxo.2_RNA|LETMD1_uc001rxp.2_Nonsense_Mutation_p.Q184*|LETMD1_uc001rxq.2_Nonsense_Mutation_p.Q177*|LETMD1_uc001rxr.2_RNA|LETMD1_uc001rxt.2_Nonsense_Mutation_p.Q41* NM_015416 NP_056231 Q6P1Q0 LTMD1_HUMAN LETM1 domain containing 1 isoform 1 301 Mitochondrial intermembrane (Potential).|LETM1. integral to membrane|mitochondrial outer membrane protein binding central_nervous_system(2) 2 GCTGACTGCTCAGGAAGTAAA 0.507 NaN 0 0 0 0.007291 0 29 81 POU6F1 5463 broad.mit.edu 37 12 51584140 51584140 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:51584140C>T uc001rxy.2 - 5 988 c.796G>A c.(796-798)GAA>AAA p.E266K POU6F1_uc001rxz.2_Missense_Mutation_p.E266K|POU6F1_uc001rya.2_Missense_Mutation_p.E266K NM_002702 NP_002693 Q14863 PO6F1_HUMAN POU class 6 homeobox 1 266 Homeobox. brain development|heart development|muscle organ development nucleus sequence-specific DNA binding transcription factor activity ovary(1) 1 TTAGCAATTTCAGTGATCTCC 0.547 NaN 0 0 0 0.013726 0 35 134 KRT75 9119 broad.mit.edu 37 12 52827960 52827960 + Silent SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:52827960C>G uc001saj.2 - 1 151 c.129G>C c.(127-129)GGG>GGC p.G43G NM_004693 NP_004684 O95678 K2C75_HUMAN keratin 75 43 Gly-rich.|Head. keratin filament structural molecule activity 0 BRCA - Breast invasive adenocarcinoma(357;0.192) GGCCCCCACTCCCTGCTGCAG 0.672 NaN 0 0 0 0.004482 0 6 48 KRT3 3850 broad.mit.edu 37 12 53185189 53185189 + Missense_Mutation SNP T T C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:53185189T>C uc001say.2 - 7 1402 c.1336A>G c.(1336-1338)ATT>GTT p.I446V NM_057088 NP_476429 P12035 K2C3_HUMAN keratin 3 446 Rod.|Coil 2. epithelial cell differentiation|intermediate filament cytoskeleton organization keratin filament structural molecule activity 0 GCCTCGGCAATGGCCGTCTGC 0.592 NaN 0 0 0 0.003755 0 32 42 CSAD 51380 broad.mit.edu 37 12 53565116 53565116 + Silent SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:53565116C>G uc001sby.2 - 7 687 c.561G>C c.(559-561)TCG>TCC p.S187S CSAD_uc001sbw.2_Intron|CSAD_uc009zmt.2_Intron|CSAD_uc010snx.1_Silent_p.S214S|CSAD_uc001sbz.2_Silent_p.S187S|CSAD_uc009zmu.2_Intron|CSAD_uc001sca.3_RNA|CSAD_uc010sny.1_3'UTR NM_015989 NP_057073 Q9Y600 CSAD_HUMAN cysteine sulfinic acid decarboxylase 187 carboxylic acid metabolic process pyridoxal phosphate binding|sulfinoalanine decarboxylase activity ovary(1) 1 L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114) CCACCTCCTTCGATGTGAATA 0.587 NaN Hereditary_Prostate_Cancer 0 0 0 0.004878 0 35 59 RARG 5916 broad.mit.edu 37 12 53607344 53607344 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:53607344G>A uc001sce.2 - 8 1439 c.954C>T c.(952-954)CTC>CTT p.L318L RARG_uc001scd.2_Silent_p.L307L|RARG_uc010sob.1_Silent_p.L296L|RARG_uc001scf.2_Silent_p.L318L|RARG_uc001scg.2_Silent_p.L246L|RARG_uc010soc.1_Silent_p.L197L|RARG_uc010sod.1_Silent_p.L355L NM_000966 NP_000957 P13631 RARG_HUMAN retinoic acid receptor, gamma isoform 1 318 Ligand-binding. canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid integral to membrane|transcription factor complex retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(2)|ovary(1)|lung(1) 4 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755) CCAGGGGCAGGAGCTGCCCAG 0.652 NaN OREG0021862 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.00333 0 24 27 RARG 5916 broad.mit.edu 37 12 53609125 53609125 + Nonsense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:53609125G>A uc001sce.2 - 5 912 c.427C>T c.(427-429)CAG>TAG p.Q143* RARG_uc001scd.2_Nonsense_Mutation_p.Q132*|RARG_uc010sob.1_Nonsense_Mutation_p.Q121*|RARG_uc001scf.2_Nonsense_Mutation_p.Q143*|RARG_uc001scg.2_Nonsense_Mutation_p.Q71*|RARG_uc010soc.1_Nonsense_Mutation_p.Q22*|RARG_uc010sod.1_Nonsense_Mutation_p.Q180* NM_000966 NP_000957 P13631 RARG_HUMAN retinoic acid receptor, gamma isoform 1 143 NR C4-type.|Nuclear receptor. canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid integral to membrane|transcription factor complex retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(2)|ovary(1)|lung(1) 4 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755) CGGCAGTACTGGCAGCGATTC 0.547 NaN 0 0 0 0.004289 0 32 81 SP1 6667 broad.mit.edu 37 12 53776403 53776403 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:53776403C>T uc001scw.2 + 3 769 c.672C>T c.(670-672)ATC>ATT p.I224I SP1_uc010sog.1_Silent_p.I217I NM_138473 NP_612482 P08047 SP1_HUMAN Sp1 transcription factor isoform a 224 Transactivation domain A (Gln-rich). positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter cytoplasm double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding ovary(1)|breast(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(357;0.00527) GAGGCAACATCATTGCTGCTA 0.502 NaN 0 0 0 0.01441 0 52 84 HOXC5 3222 broad.mit.edu 37 12 54427115 54427115 + Missense_Mutation SNP A A C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:54427115A>C uc001sew.2 + 1 284 c.209A>C c.(208-210)CAC>CCC p.H70P HOXC5_uc001set.2_Intron|HOXC4_uc001seu.2_Intron|MIR615_hsa-mir-615|MI0003628_5'Flank NM_018953 NP_061826 Q00444 HXC5_HUMAN homeobox C5 70 regulation of transcription from RNA polymerase II promoter cell junction|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 CCCCGGGCTCACCCCGACCGC 0.672 NaN 0 0 0 0.010729 0 7 16 OR6C2 341416 broad.mit.edu 37 12 55846762 55846762 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:55846762C>T uc001sgz.1 + 1 765 c.765C>T c.(763-765)TTC>TTT p.F255F NM_054105 NP_473446 Q9NZP2 OR6C2_HUMAN olfactory receptor, family 6, subfamily C, 255 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 GCTGCATCTTCATCTATATCA 0.423 NaN 0 0 0 0.009535 0 32 167 SUOX 6821 broad.mit.edu 37 12 56397731 56397731 + Silent SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:56397731G>C uc001six.2 + 6 884 c.558G>C c.(556-558)CTG>CTC p.L186L SUOX_uc001siy.2_Silent_p.L186L|SUOX_uc001siz.2_Silent_p.L186L|SUOX_uc001sja.2_Silent_p.L186L NM_000456 NP_000447 P51687 SUOX_HUMAN sulfite oxidase precursor 186 Molybdenum-pterin domain (By similarity). mitochondrial intermembrane space electron carrier activity|molybdenum ion binding|sulfite oxidase activity 0 UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119) ACCCAGCCCTGAAGGTCAACA 0.547 NaN 0 0 0 0.003954 0 25 24 ESYT1 23344 broad.mit.edu 37 12 56531079 56531079 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:56531079G>A uc001sjq.2 + 17 1910 c.1860G>A c.(1858-1860)GAG>GAA p.E620E ESYT1_uc001sjr.2_Silent_p.E630E NM_015292 NP_056107 Q9BSJ8 ESYT1_HUMAN extended synaptotagmin-like protein 1 620 integral to membrane ovary(4)|skin(1) 5 TGGACAGTGAGAATCCCCAGA 0.532 NaN 0 0 0 0.00623 0 34 59 ANKRD52 283373 broad.mit.edu 37 12 56651667 56651667 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:56651667C>T uc001skm.3 - 2 146 c.56G>A c.(55-57)CGA>CAA p.R19Q ANKRD52_uc001skn.1_5'Flank NM_173595 NP_775866 Q8NB46 ANR52_HUMAN ankyrin repeat domain 52 19 ANK 1. protein binding ovary(2) 2 CTCCACATCTCGGCTAAAGAT 0.637 NaN 0 0 0 0.013537 0 13 23 PAN2 9924 broad.mit.edu 37 12 56716974 56716974 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:56716974C>T uc001skx.2 - 17 2750 c.2377G>A c.(2377-2379)GAG>AAG p.E793K PAN2_uc001skw.2_5'UTR|PAN2_uc001skz.2_Missense_Mutation_p.E792K|PAN2_uc001sky.2_Missense_Mutation_p.E789K NM_001127460 NP_001120932 Q504Q3 PAN2_HUMAN PAN2 polyA specific ribonuclease subunit homolog 793 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 AGCACACCCTCTGGACTCCCT 0.463 NaN 0 0 0 0.01441 0 100 150 PAN2 9924 broad.mit.edu 37 12 56720504 56720504 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:56720504C>T uc001skx.2 - 7 1532 c.1159G>A c.(1159-1161)GAC>AAC p.D387N PAN2_uc001skw.2_5'Flank|PAN2_uc001skz.2_Missense_Mutation_p.D387N|PAN2_uc001sky.2_Missense_Mutation_p.D387N NM_001127460 NP_001120932 Q504Q3 PAN2_HUMAN PAN2 polyA specific ribonuclease subunit homolog 387 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 TGGCTCCAGTCCAGAGGAGGC 0.587 NaN 0 0 0 0.00308 0 7 64 PAN2 9924 broad.mit.edu 37 12 56720612 56720612 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:56720612C>T uc001skx.2 - 7 1424 c.1051G>A c.(1051-1053)GAG>AAG p.E351K PAN2_uc001skw.2_5'Flank|PAN2_uc001skz.2_Missense_Mutation_p.E351K|PAN2_uc001sky.2_Missense_Mutation_p.E351K NM_001127460 NP_001120932 Q504Q3 PAN2_HUMAN PAN2 polyA specific ribonuclease subunit homolog 351 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 ACACAGCCCTCAGAATCCCCA 0.562 NaN 0 0 0 0.007291 0 28 115 PAN2 9924 broad.mit.edu 37 12 56722297 56722297 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:56722297G>A uc001skx.2 - 3 784 c.411C>T c.(409-411)CTC>CTT p.L137L PAN2_uc001skz.2_Silent_p.L137L|PAN2_uc001sky.2_Silent_p.L137L NM_001127460 NP_001120932 Q504Q3 PAN2_HUMAN PAN2 polyA specific ribonuclease subunit homolog 137 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 CCATATACTTGAGGTTGTTCT 0.488 NaN 0 0 0 0.01441 0 54 120 NACA 4666 broad.mit.edu 37 12 57108199 57108199 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:57108199C>T uc001slz.2 - 4 530 c.181G>A c.(181-183)GAA>AAA p.E61K NACA_uc001sly.2_Missense_Mutation_p.E61K|NACA_uc009zoy.1_Missense_Mutation_p.E1924K|NACA_uc001smc.2_Missense_Mutation_p.E61K|NACA_uc001sma.2_Missense_Mutation_p.E771K|NACA_uc001smb.2_Missense_Mutation_p.E61K|NACA_uc010squ.1_RNA NM_001113201 NP_001106672 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha 61 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding ovary(1) 1 ACTGGTTCTTCATCAATTTCA 0.398 NaN T BCL6 NHL 0 0 0 0.010504 0 22 78 SDR9C7 121214 broad.mit.edu 37 12 57328012 57328012 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:57328012G>A uc010sqw.1 - 1 34 c.34C>T c.(34-36)CGC>TGC p.R12C NM_148897 NP_683695 Q8NEX9 DR9C7_HUMAN short chain dehydrogenase/reductase family 9C, 12 cytoplasm binding|oxidoreductase activity central_nervous_system(1) 1 TTGAACCAGCGATACATAAAT 0.547 NaN 0 0 0 0.006214 0 10 52 STAT6 6778 broad.mit.edu 37 12 57493598 57493598 + Missense_Mutation SNP A A T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:57493598A>T uc009zpe.2 - 15 1947 c.1696T>A c.(1696-1698)TCA>ACA p.S566T STAT6_uc009zpf.2_Missense_Mutation_p.S566T|STAT6_uc001sna.2_Missense_Mutation_p.S566T|STAT6_uc010srb.1_Missense_Mutation_p.S456T|STAT6_uc010src.1_Missense_Mutation_p.S456T|STAT6_uc010srd.1_Missense_Mutation_p.S456T|STAT6_uc009zpg.2_Missense_Mutation_p.S615T NM_003153 NP_003144 P42226 STAT6_HUMAN signal transducer and activator of transcription 566 SH2. regulation of transcription from RNA polymerase II promoter cytosol|nucleus calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(2)|lung(1)|skin(1) 4 CCAATCTCTGAGTCGCTGAAG 0.582 NaN 0 0 0 0.001855 0 11 23 INHBE 83729 broad.mit.edu 37 12 57850047 57850047 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:57850047C>T uc001snw.2 + 2 693 c.469C>T c.(469-471)CTC>TTC p.L157F NM_031479 NP_113667 P58166 INHBE_HUMAN activin beta E precursor 157 growth extracellular region growth factor activity|hormone activity breast(2)|central_nervous_system(1) 3 GTCCCGCACTCTCCTGGCTGA 0.602 NaN OREG0021944 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.01441 0 102 177 GLI1 2735 broad.mit.edu 37 12 57858641 57858641 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:57858641G>A uc001snx.2 + 4 457 c.379G>A c.(379-381)GGC>AGC p.G127S GLI1_uc009zpp.2_RNA|GLI1_uc009zpq.2_5'UTR|GLI1_uc009zpr.1_RNA NM_005269 NP_005260 P08151 GLI1_HUMAN GLI family zinc finger 1 isoform 1 127 epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytosol|nucleus transcription regulatory region DNA binding|zinc ion binding skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1) 15 GBM - Glioblastoma multiforme(3;3.99e-32) TCTCTCCATTGGCACCATGAG 0.557 NaN 0 0 0 0.003163 0 15 57 DCTN2 10540 broad.mit.edu 37 12 57926780 57926780 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:57926780C>T uc001som.1 - 9 893 c.761G>A c.(760-762)GGA>GAA p.G254E DCTN2_uc009zpu.1_Missense_Mutation_p.G259E|DCTN2_uc009zpv.1_Missense_Mutation_p.G167E|DCTN2_uc009zpw.1_Missense_Mutation_p.G167E|DCTN2_uc001soo.1_RNA|DCTN2_uc001son.1_Missense_Mutation_p.G167E|DCTN2_uc001sop.1_Missense_Mutation_p.G167E|DCTN2_uc001soq.1_RNA|DCTN2_uc009zpx.1_Missense_Mutation_p.G254E NM_006400 NP_006391 Q13561 DCTN2_HUMAN dynactin 2 254 cell proliferation|G2/M transition of mitotic cell cycle|mitosis centrosome|cytosol|dynactin complex|dynein complex|kinetochore|membrane|microtubule|vesicle motor activity|protein binding ovary(1) 1 GAGACAGGCTCCCTGTAGACC 0.458 NaN 0 0 0 0.00308 0 8 17 PIP4K2C 79837 broad.mit.edu 37 12 57994197 57994197 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:57994197G>C uc001sou.2 + 7 921 c.790G>C c.(790-792)GAG>CAG p.E264Q PIP4K2C_uc001sot.2_Missense_Mutation_p.E264Q|PIP4K2C_uc010srs.1_Missense_Mutation_p.E246Q|PIP4K2C_uc010srt.1_Missense_Mutation_p.E216Q NM_001146258 NP_001139730 Q8TBX8 PI42C_HUMAN phosphatidylinositol-5-phosphate 4-kinase, type 264 PIPK. cytoplasm|membrane 1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding central_nervous_system(2)|lung(1) 3 Melanoma(17;0.122) AATATTTCTGGAGAAGCTGAA 0.403 NaN 0 0 0 0.013537 0 13 46 AGAP2 116986 broad.mit.edu 37 12 58127921 58127921 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:58127921G>A uc001spq.2 - 5 1437 c.1437C>T c.(1435-1437)TTC>TTT p.F479F AGAP2_uc001spp.2_Silent_p.F479F|AGAP2_uc001spr.2_Silent_p.F143F NM_001122772 NP_001116244 Q99490 AGAP2_HUMAN centaurin, gamma 1 isoform PIKE-L 479 G domain. axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction mitochondrion|nucleolus ARF GTPase activator activity|GTP binding|zinc ion binding central_nervous_system(3)|breast(2) 5 CCTCCAGGCTGAAGACGAAGA 0.587 NaN 0 0 0 0.010504 0 20 19 MARCH9 92979 broad.mit.edu 37 12 58152013 58152013 + Missense_Mutation SNP G G T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:58152013G>T uc001spx.1 + 3 1048 c.636G>T c.(634-636)AAG>AAT p.K212N MARCH9_uc001spy.2_Missense_Mutation_p.K99N NM_138396 NP_612405 Q86YJ5 MARH9_HUMAN membrane-associated RING-CH protein IX 212 Golgi membrane|Golgi stack|integral to membrane|lysosomal membrane|trans-Golgi network ligase activity|zinc ion binding 0 all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294) CTTCAGCCAAGTGGCAACGAC 0.542 NaN 1 0 1.96895e-08 0.00278 2.03555e-08 23 62 MON2 23041 broad.mit.edu 37 12 62861092 62861092 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:62861092C>T uc001sre.2 + 1 496 c.105C>T c.(103-105)GTC>GTT p.V35V MON2_uc009zqj.2_Silent_p.V35V|MON2_uc010ssl.1_5'UTR|MON2_uc010ssm.1_Silent_p.V35V|MON2_uc010ssn.1_Silent_p.V35V|MON2_uc001srd.1_Silent_p.V35V NM_015026 NP_055841 Q7Z3U7 MON2_HUMAN MON2 homolog 35 Golgi to endosome transport|protein transport cytoplasm ARF guanyl-nucleotide exchange factor activity|binding central_nervous_system(2) 2 BRCA - Breast invasive adenocarcinoma(9;0.218) GBM - Glioblastoma multiforme(28;0.128) TCCCACCTGTCAAAGAGGTAA 0.542 NaN 0 0 0 0.008871 0 20 70 LEMD3 23592 broad.mit.edu 37 12 65564632 65564632 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:65564632C>T uc001ssl.1 + 1 1262 c.1256C>T c.(1255-1257)TCT>TTT p.S419F LEMD3_uc009zqo.1_Missense_Mutation_p.S419F NM_014319 NP_055134 Q9Y2U8 MAN1_HUMAN LEM domain containing 3 419 negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway integral to nuclear inner membrane|membrane fraction DNA binding|nucleotide binding|protein binding central_nervous_system(3)|ovary(1) 4 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.0104) GTGGCCGCCTCTAGTTCACTC 0.502 NaN 0 0 0 0.010504 0 20 65 KCNMB4 27345 broad.mit.edu 37 12 70760748 70760748 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:70760748C>T uc001svx.2 + 1 687 c.234C>T c.(232-234)GGC>GGT p.G78G NM_014505 NP_055320 Q86W47 KCMB4_HUMAN calcium-activated potassium channel beta 4 78 Extracellular (Potential). detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of neurotransmitter secretion|regulation of vasoconstriction|synaptic transmission voltage-gated potassium channel complex calcium-activated potassium channel activity|protein binding 0 Renal(347;0.236) Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118) ACTGCAGGGGCACCTCGCAGT 0.627 NaN 0 0 0 0.014323 0 23 78 OSBPL8 114882 broad.mit.edu 37 12 76788453 76788453 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:76788453C>T uc001sye.1 - 9 1209 c.729G>A c.(727-729)TTG>TTA p.L243L OSBPL8_uc001syf.1_Silent_p.L201L|OSBPL8_uc001syg.1_Silent_p.L201L|OSBPL8_uc001syh.1_Silent_p.L218L NM_020841 NP_065892 Q9BZF1 OSBL8_HUMAN oxysterol-binding protein-like protein 8 isoform 243 PH. lipid transport lipid binding ovary(1) 1 CTCGGATGATCAAATAACTGC 0.323 NaN 0 0 0 0.003271 0 31 39 NAV3 89795 broad.mit.edu 37 12 78513043 78513043 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:78513043G>C uc001syp.2 + 15 3240 c.3067G>C c.(3067-3069)GAG>CAG p.E1023Q NAV3_uc001syo.2_Missense_Mutation_p.E1023Q|NAV3_uc010sub.1_Missense_Mutation_p.E523Q|NAV3_uc009zsf.2_Missense_Mutation_p.E31Q NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 1023 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 CAAAGCTTCTGAGAAAGGAAA 0.418 NaN HNSCC(70;0.22) 0 0 0 0.010771 0 42 211 NAV3 89795 broad.mit.edu 37 12 78513245 78513245 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:78513245C>T uc001syp.2 + 15 3442 c.3269C>T c.(3268-3270)TCT>TTT p.S1090F NAV3_uc001syo.2_Missense_Mutation_p.S1090F|NAV3_uc010sub.1_Missense_Mutation_p.S590F|NAV3_uc009zsf.2_Missense_Mutation_p.S98F NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 1090 Ser-rich. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 ACAAGTGGCTCTGCAACACTG 0.483 NaN HNSCC(70;0.22) 0 0 0 0.004007 0 13 62 ACSS3 79611 broad.mit.edu 37 12 81536974 81536974 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:81536974C>T uc001szl.1 + 5 960 c.869C>T c.(868-870)TCA>TTA p.S290L ACSS3_uc001szm.1_Missense_Mutation_p.S289L NM_024560 NP_078836 Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 290 mitochondrion acetate-CoA ligase activity|ATP binding ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 CCTGTTCTTTCAGAACACCCA 0.453 NaN 0 0 0 0.01441 0 97 20 KERA 11081 broad.mit.edu 37 12 91445283 91445283 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:91445283G>A uc001tbl.2 - 3 1518 c.899C>T c.(898-900)TCT>TTT p.S300F NM_007035 NP_008966 O60938 KERA_HUMAN keratocan precursor 300 LRR 10. response to stimulus|visual perception proteinaceous extracellular matrix skin(1) 1 ACATATTACAGAGACATTCAC 0.428 NaN 0 0 0 0.009535 0 31 39 UBE2N 7334 broad.mit.edu 37 12 93804976 93804976 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:93804976C>T uc001tcp.2 - 2 496 c.130G>A c.(130-132)GAT>AAT p.D44N NM_003348 NP_003339 P61088 UBE2N_HUMAN ubiquitin-conjugating enzyme E2N 44 DNA double-strand break processing|double-strand break repair via homologous recombination|histone ubiquitination|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of DNA repair|positive regulation of histone modification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity|postreplication repair|protein K63-linked ubiquitination|proteolysis|regulation of histone ubiquitination|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleus|UBC13-MMS2 complex|UBC13-UEV1A complex|ubiquitin ligase complex ATP binding|ubiquitin binding|ubiquitin-protein ligase activity 0 AAGGGGGAATCCTGAGGGCCA 0.478 NaN Direct_reversal_of_damage|Rad6_pathway 0 0 0 0.01441 0 51 92 CCDC38 120935 broad.mit.edu 37 12 96284667 96284667 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:96284667C>G uc001tek.1 - 9 1048 c.814G>C c.(814-816)GAG>CAG p.E272Q NM_182496 NP_872302 Q502W7 CCD38_HUMAN coiled-coil domain containing 38 272 skin(1) 1 CTCCCGGACTCCTCAAGGATG 0.443 NaN 0 0 0 0.00632 0 27 45 HAL 3034 broad.mit.edu 37 12 96382019 96382019 + Splice_Site SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:96382019C>T uc001tem.1 - 11 1153 c.856_splice c.e11-1 p.V286_splice HAL_uc009zti.1_Splice_Site|HAL_uc010suw.1_Splice_Site_p.V78_splice|HAL_uc010sux.1_Splice_Site_p.V286_splice NM_002108 NP_002099 P42357 HUTH_HUMAN histidine ammonia-lyase biosynthetic process|histidine catabolic process cytosol histidine ammonia-lyase activity ovary(2)|skin(1) 3 L-Histidine(DB00117) CTTCTAGCACCTATAGAATGA 0.308 NaN 0 0 0 0.01441 0 105 156 C12orf63 374467 broad.mit.edu 37 12 97051853 97051853 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:97051853C>T uc001tet.1 + 4 647 c.569C>T c.(568-570)TCT>TTT p.S190F NM_198520 NP_940922 Q6ZTY8 CL063_HUMAN hypothetical protein LOC374467 190 skin(6)|ovary(1) 7 ACACTAGTATCTCTTGCCATT 0.313 NaN 0 0 0 0.012213 0 31 115 UHRF1BP1L 23074 broad.mit.edu 37 12 100489579 100489579 + Missense_Mutation SNP G G C rs12824229 TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:100489579G>C uc001tgq.2 - 7 935 c.706C>G c.(706-708)CTA>GTA p.L236V UHRF1BP1L_uc001tgr.2_Missense_Mutation_p.L236V|UHRF1BP1L_uc001tgp.2_5'Flank NM_015054 NP_055869 A0JNW5 UH1BL_HUMAN UHRF1 (ICBP90) binding protein 1-like isoform a 236 ovary(2) 2 TCCAATATTAGAACTAACTTT 0.303 NaN 0 0 0 0.006122 0 18 53 SLC5A8 160728 broad.mit.edu 37 12 101584349 101584349 + Missense_Mutation SNP T T C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:101584349T>C uc001thz.3 - 6 1120 c.730A>G c.(730-732)ACA>GCA p.T244A NM_145913 NP_666018 Q8N695 SC5A8_HUMAN solute carrier family 5 (iodide transporter), 244 Helical; (Potential). apoptosis|sodium ion transport apical plasma membrane|integral to membrane monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity 0 ATAATAATTGTCCAGAAGGTG 0.373 NaN 0 0 0 0.00632 0 30 96 CHPT1 56994 broad.mit.edu 37 12 102091702 102091702 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:102091702G>A uc001tin.2 + 1 286 c.63G>A c.(61-63)CTG>CTA p.L21L CHPT1_uc001tio.2_RNA|CHPT1_uc001tip.1_Silent_p.L21L NM_020244 NP_064629 Q8WUD6 CHPT1_HUMAN choline phosphotransferase 1 21 platelet activating factor biosynthetic process|regulation of cell growth Golgi membrane|integral to membrane|microsome diacylglycerol binding|diacylglycerol cholinephosphotransferase activity|metal ion binding 0 GCGAGCCGCTGAGCGCGGCGC 0.791 NaN 0 0 0 0.009096 0 4 1 ALKBH2 121642 broad.mit.edu 37 12 109526080 109526080 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:109526080G>A uc001tnx.2 - 4 1110 c.717C>T c.(715-717)CCC>CCT p.P239P ALKBH2_uc001tny.2_Silent_p.P239P|ALKBH2_uc010sxj.1_Silent_p.P239P|ALKBH2_uc009zvd.2_3'UTR|ALKBH2_uc010sxk.1_3'UTR NM_001145374 NP_001138846 Q6NS38 ALKB2_HUMAN AlkB homolog 2 239 Fe2OG dioxygenase. DNA dealkylation involved in DNA repair|oxidative DNA demethylation nucleoplasm cytosine C-5 DNA demethylase activity|damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 Vitamin C(DB00126) TCTTTCTCACGGGAAGACTGT 0.483 NaN Direct_reversal_of_damage 0 0 0 0.01441 0 49 193 RAD9B 144715 broad.mit.edu 37 12 110956540 110956540 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:110956540C>G uc001trf.3 + 7 793 c.655C>G c.(655-657)CAA>GAA p.Q219E RAD9B_uc001trg.3_Missense_Mutation_p.Q219E|RAD9B_uc010sya.1_Missense_Mutation_p.Q150E|RAD9B_uc001tre.3_Missense_Mutation_p.Q147E|RAD9B_uc001trd.3_Missense_Mutation_p.Q61E NM_152442 NP_689655 Q6WBX8 RAD9B_HUMAN RAD9 homolog B 216 cell cycle checkpoint|DNA repair|DNA replication nucleoplasm protein binding pancreas(1)|skin(1) 2 TGACTTCTTTCAAATTGGAAT 0.279 NaN 0 0 0 0.010771 0 42 57 CCDC63 160762 broad.mit.edu 37 12 111290763 111290763 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:111290763C>T uc001trv.1 + 2 200 c.5C>T c.(4-6)TCT>TTT p.S2F CCDC63_uc009zvt.1_Intron|CCDC63_uc010sye.1_Intron|CCDC63_uc001trw.1_Intron NM_152591 NP_689804 Q8NA47 CCD63_HUMAN coiled-coil domain containing 63 2 skin(6)|ovary(1)|pancreas(1) 8 TTCAAGATGTCTGTGGTAGGT 0.313 NaN 0 0 0 0.004656 0 27 32 DTX1 1840 broad.mit.edu 37 12 113531504 113531504 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:113531504G>C uc001tuk.1 + 4 1500 c.1164G>C c.(1162-1164)AAG>AAC p.K388N NM_004416 NP_004407 Q86Y01 DTX1_HUMAN deltex homolog 1 388 negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter cytoplasm|nucleus Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding lung(2)|ovary(1)|central_nervous_system(1) 4 ACCTTAAAAAGAGTACGCCCT 0.582 NaN 0 0 0 0.013537 0 11 17 DTX1 1840 broad.mit.edu 37 12 113532921 113532921 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:113532921G>A uc001tuk.1 + 7 1797 c.1461G>A c.(1459-1461)ATG>ATA p.M487I NM_004416 NP_004407 Q86Y01 DTX1_HUMAN deltex homolog 1 487 negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter cytoplasm|nucleus Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding lung(2)|ovary(1)|central_nervous_system(1) 4 CTGGGAAGATGGAGTTCCACC 0.642 NaN 0 0 0 0.010504 0 21 33 SLC24A6 80024 broad.mit.edu 37 12 113737681 113737681 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:113737681G>A uc001tvc.2 - 16 1866 c.1656C>T c.(1654-1656)CTC>CTT p.L552L SLC24A6_uc001tuz.2_Silent_p.L257L|SLC24A6_uc001tva.2_RNA|SLC24A6_uc001tvb.2_Silent_p.L290L NM_024959 NP_079235 Q6J4K2 NCKX6_HUMAN solute carrier family 24 member 6 precursor 552 Extracellular (Potential). response to stimulus|sodium ion transport integral to membrane|plasma membrane calcium:cation antiporter activity central_nervous_system(1) 1 AGACTCTGCTGAGCTGGAAGC 0.577 NaN 0 0 0 0.010818 0 25 37 TBX3 6926 broad.mit.edu 37 12 115120680 115120680 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:115120680G>A uc001tvt.1 - 1 1290 c.326C>T c.(325-327)GCT>GTT p.A109V TBX3_uc001tvu.1_Missense_Mutation_p.A109V|TBX3_uc010syw.1_Missense_Mutation_p.A109V NM_016569 NP_057653 O15119 TBX3_HUMAN T-box 3 protein isoform 2 109 T-box; first part. anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development nucleus sequence-specific DNA binding ovary(2)|skin(1) 3 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0574) AAGTTCTTTAGCCTCCAGGTG 0.592 NaN 0 0 0 0.013726 0 31 49 MED13L 23389 broad.mit.edu 37 12 116418744 116418744 + Splice_Site SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:116418744C>G uc001tvw.2 - 23 5231 c.5176_splice c.e23-1 p.I1726_splice NM_015335 NP_056150 Q71F56 MD13L_HUMAN mediator complex subunit 13-like regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1) 8 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) AAGGCACAATCTAAAGACACA 0.378 NaN 0 0 0 0.007413 0 20 45 VSIG10 54621 broad.mit.edu 37 12 118511775 118511775 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:118511775C>T uc001tws.2 - 5 1282 c.948G>A c.(946-948)GAG>GAA p.E316E NM_019086 NP_061959 Q8N0Z9 VSI10_HUMAN V-set and immunoglobulin domain containing 10 316 Ig-like C2-type 4.|Extracellular (Potential). integral to membrane 0 TCTTCATGGGCTCAGAGAGAA 0.527 NaN 0 0 0 0.00499 0 17 23 CCDC60 160777 broad.mit.edu 37 12 119954484 119954484 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:119954484G>A uc001txe.2 + 8 1405 c.940G>A c.(940-942)GAA>AAA p.E314K uc001txf.2_Intron NM_178499 NP_848594 Q8IWA6 CCD60_HUMAN coiled-coil domain containing 60 314 ovary(2)|upper_aerodigestive_tract(1) 3 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.207) AGTCACAATAGAAAATGGGAT 0.433 NaN 0 0 0 0.004007 0 16 58 COX6A1 1337 broad.mit.edu 37 12 120876184 120876184 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:120876184C>G uc001tyf.1 + 2 132 c.106C>G c.(106-108)CGC>GGC p.R36G NM_004373 NP_004364 P12074 CX6A1_HUMAN cytochrome c oxidase subunit VIa polypeptide 1 36 respiratory electron transport chain mitochondrial respiratory chain complex IV cytochrome-c oxidase activity 0 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CTCCGCAGCTCGCATGTGGAA 0.637 NaN 0 0 0 0.008291 0 8 21 SFRS9 8683 broad.mit.edu 37 12 120903591 120903591 + Splice_Site SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:120903591C>G uc001tyi.2 - 2 335 c.189_splice c.e2-1 p.R63_splice SFRS9_uc009zwy.2_Intron NM_003769 NP_003760 Q13242 SRSF9_HUMAN splicing factor, arginine/serine-rich 9 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) CTCTGCATCTCTAAAAAAAAC 0.453 NaN 0 0 0 0.012319 0 20 42 RNF10 9921 broad.mit.edu 37 12 120995412 120995412 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:120995412G>A uc001typ.3 + 6 1377 c.894G>A c.(892-894)AAG>AAA p.K298K RNF10_uc010szk.1_RNA|RNF10_uc001tyq.3_Silent_p.K204K NM_014868 NP_055683 Q8N5U6 RNF10_HUMAN ring finger protein 10 298 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) AGCTGATGAAGAGGGAGAAAG 0.448 NaN 0 0 0 0.004878 0 37 190 P2RX7 5027 broad.mit.edu 37 12 121615003 121615003 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:121615003C>T uc001tzm.2 + 10 1122 c.1026C>T c.(1024-1026)TCC>TCT p.S342S P2RX7_uc001tzn.2_Silent_p.S252S|P2RX7_uc001tzo.2_RNA|P2RX7_uc001tzp.2_Silent_p.S53S|P2RX7_uc001tzq.2_Silent_p.S172S NM_002562 NP_002553 Q99572 P2RX7_HUMAN purinergic receptor P2X7 342 integral to membrane ATP binding|ion channel activity|receptor activity large_intestine(2)|lung(1)|breast(1)|skin(1) 5 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) CAACCCTCTCCTACTTCGGTC 0.468 NaN 0 0 0 0.01441 0 57 76 CLIP1 6249 broad.mit.edu 37 12 122817644 122817644 + Silent SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:122817644C>G uc001ucg.1 - 14 2863 c.2757G>C c.(2755-2757)CTG>CTC p.L919L CLIP1_uc001uch.1_Silent_p.L908L|CLIP1_uc001uci.1_Silent_p.L873L|CLIP1_uc001ucj.1_Silent_p.L494L NM_002956 NP_002947 P30622 CLIP1_HUMAN restin isoform a 919 Potential. mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding ovary(2)|breast(1) 3 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) TTGCCTTTATCAGCTGCTCTT 0.343 NaN 0 0 0 0.00499 0 18 36 KNTC1 9735 broad.mit.edu 37 12 123089504 123089504 + Silent SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:123089504C>G uc001ucv.2 + 50 5419 c.5256C>G c.(5254-5256)CTC>CTG p.L1752L KNTC1_uc010taf.1_Intron NM_014708 NP_055523 P50748 KNTC1_HUMAN Rough Deal homolog, centromere/kinetochore 1752 cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole protein binding ovary(5)|kidney(3)|lung(1)|central_nervous_system(1) 10 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217) AAGCTGTGCTCATAGCCCACA 0.438 NaN 0 0 0 0.008291 0 10 13 GPR81 27198 broad.mit.edu 37 12 123214722 123214722 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:123214722G>A uc001ucz.2 - 1 408 c.165C>T c.(163-165)TTC>TTT p.F55F GPR81_uc001ucw.1_RNA NM_032554 NP_115943 Q9BXC0 HCAR1_HUMAN G protein-coupled receptor 81 55 Helical; Name=2; (Potential). response to estradiol stimulus integral to membrane|plasma membrane G-protein coupled receptor activity p.N56fs*6(1) 0 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.14e-05)|Epithelial(86;3.25e-05)|BRCA - Breast invasive adenocarcinoma(302;0.197) CGGCCAAATTGAAAAGGTAAA 0.527 NaN 0 0 0 0.004007 0 16 11 SETD8 387893 broad.mit.edu 37 12 123868753 123868753 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:123868753G>A uc001uew.2 + 1 50 c.8G>A c.(7-9)AGA>AAA p.R3K SETD8_uc001uex.2_5'UTR NM_020382 NP_065115 Q9NQR1 SETD8_HUMAN SET domain-containing 8 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment 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) GCCATGGCTAGAGGTATTTGC 0.662 NaN 0 0 0 0.000602 0 5 12 DDX55 57696 broad.mit.edu 37 12 124104609 124104609 + Missense_Mutation SNP G G T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:124104609G>T uc001ufi.2 + 14 1749 c.1725G>T c.(1723-1725)GAG>GAT p.E575D DDX55_uc001ufk.2_Missense_Mutation_p.E428D|DDX55_uc001ufl.2_Missense_Mutation_p.E182D NM_020936 NP_065987 Q8NHQ9 DDX55_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 55 575 ATP binding|ATP-dependent helicase activity|RNA binding ovary(1) 1 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772) AAGAATTTGAGAAGGGCTTGT 0.393 NaN 1 0 1.40151e-16 0.010504 1.47563e-16 21 90 NCOR2 9612 broad.mit.edu 37 12 124979754 124979754 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 G A G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:124979754G>A uc010tba.1 - 1 161 c.44C>T c.(43-45)ACT>ATT p.T15I NCOR2_uc010tay.1_Missense_Mutation_p.T15I|NCOR2_uc010taz.1_Missense_Mutation_p.T15I|NCOR2_uc010tbb.1_Missense_Mutation_p.T15I|NCOR2_uc010tbc.1_Missense_Mutation_p.T15I|NCOR2_uc001ugj.1_Missense_Mutation_p.T15I|NCOR2_uc001ugk.1_Missense_Mutation_p.T15I NM_001077261 NP_001070729 Q9Y618 NCOR2_HUMAN nuclear receptor co-repressor 2 isoform 2 15 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity skin(3)|ovary(1) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) GCGGGGCTCAGTGGCCCTCCA 0.642 NaN 0 0 0 0.00308 0 7 34 UBC 7316 broad.mit.edu 37 12 125398075 125398075 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:125398075C>T uc001ugs.3 - 2 691 c.243G>A c.(241-243)GTG>GTA p.V81V UBC_uc001ugr.2_5'Flank|UBC_uc001ugu.1_Silent_p.V81V|UBC_uc001ugt.2_Silent_p.V81V|UBC_uc001ugv.2_Intron|UBC_uc001ugw.2_Intron NM_021009 NP_066289 P0CG48 UBC_HUMAN ubiquitin C 81 Ubiquitin-like 2. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding ovary(2) 2 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) TGAGTGTCTTCACGAAGATTT 0.542 NaN 0 0 0 0.01441 0 110 169 MMP17 4326 broad.mit.edu 37 12 132322757 132322757 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:132322757C>T uc001ujc.1 + 2 276 c.177C>T c.(175-177)TTC>TTT p.F59F MMP17_uc001ujd.1_5'UTR NM_016155 NP_057239 Q9ULZ9 MMP17_HUMAN matrix metalloproteinase 17 preproprotein 59 proteolysis anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05) TAAGCAGGTTCGGTTACCTGC 0.642 NaN 0 0 0 0.010504 0 18 19 ULK1 8408 broad.mit.edu 37 12 132380364 132380364 + Missense_Mutation SNP T T C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:132380364T>C uc001uje.2 + 3 509 c.241T>C c.(241-243)TTC>CTC p.F81L NM_003565 NP_003556 O75385 ULK1_HUMAN Unc-51-like kinase 1 81 Protein kinase. autophagy|protein localization|regulation of autophagy autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex ATP binding|protein complex binding|protein serine/threonine kinase activity ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07) CCTGTACGACTTCCAGGTAAG 0.617 NaN 0 0 0 0.004482 0 7 57 POLE 5426 broad.mit.edu 37 12 133226443 133226443 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:133226443C>T uc001uks.1 - 30 3659 c.3615G>A c.(3613-3615)CCG>CCA p.P1205P POLE_uc001ukr.1_Silent_p.P9P|POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Silent_p.P1178P NM_006231 NP_006222 Q07864 DPOE1_HUMAN DNA-directed DNA polymerase epsilon 1205 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding ovary(3)|skin(3)|lung(1)|central_nervous_system(1) 8 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) CACTTGGCCTCGGACTGTCTT 0.493 NaN DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 0 0 0 0.008291 0 11 34 PGAM5 192111 broad.mit.edu 37 12 133294683 133294683 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:133294683C>T uc009zyv.2 + 5 723 c.696C>T c.(694-696)AAC>AAT p.N232N PGAM5_uc010tbr.1_RNA|PGAM5_uc001uku.2_Silent_p.N232N NM_138575 NP_612642 Q96HS1 PGAM5_HUMAN phosphoglycerate mutase family member 5 232 integral to membrane|mitochondrial outer membrane phosphoprotein phosphatase activity 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.89e-08)|Epithelial(86;1.14e-07)|all cancers(50;3.57e-06) GTCACGCCAACGTCATCCGCT 0.562 NaN 0 0 0 0.008291 0 10 53 MPHOSPH8 54737 broad.mit.edu 37 13 20208066 20208066 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr13:20208066G>C uc001umh.2 + 1 187 c.178G>C c.(178-180)GAG>CAG p.E60Q MPHOSPH8_uc001umf.1_Missense_Mutation_p.E60Q|MPHOSPH8_uc001umg.2_Missense_Mutation_p.E60Q NM_017520 NP_059990 Q99549 MPP8_HUMAN M-phase phosphoprotein 8 60 Chromo. cell cycle cytoplasm|nucleus 0 all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367) all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795) GGATGTGTTCGAGGTGGAGAA 0.657 NaN 0 0 0 0.004672 0 3 5 ZMYM5 9205 broad.mit.edu 37 13 20425496 20425496 + Silent SNP A A G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr13:20425496A>G uc010tcn.1 - 4 850 c.585T>C c.(583-585)CCT>CCC p.P195P ZMYM5_uc001umm.1_Silent_p.P19P|ZMYM5_uc001umn.2_Silent_p.P195P|ZMYM5_uc001umo.2_Silent_p.P195P NM_001142684 NP_001136156 Q9UJ78 ZMYM5_HUMAN zinc finger protein 237 isoform 3 195 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) ACTGCTTACCAGGACTATGAT 0.383 NaN 0 0 0 0.007413 0 20 78 XPO4 64328 broad.mit.edu 37 13 21371070 21371070 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr13:21371070C>T uc001unq.3 - 17 2485 c.2449G>A c.(2449-2451)GAG>AAG p.E817K NM_022459 NP_071904 Q9C0E2 XPO4_HUMAN exportin 4 817 protein transport cytoplasm|nucleus protein binding large_intestine(1)|ovary(1)|kidney(1) 3 all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548) TGGGTAGCCTCAGCAATGCCA 0.428 NaN 0 0 0 0.007413 0 18 68 MRP63 78988 broad.mit.edu 37 13 21751241 21751241 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr13:21751241C>T uc001unw.2 + 2 676 c.186C>T c.(184-186)CAC>CAT p.H62H SKA3_uc001unt.2_5'Flank|SKA3_uc001unv.2_5'Flank|SKA3_uc001unu.2_5'Flank NM_024026 NP_076931 Q9BQC6 RT63_HUMAN mitochondrial ribosomal protein 63 62 0 all_cancers(29;2.76e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147) all cancers(112;9.43e-05)|Epithelial(112;0.000285)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|Lung(94;0.0932) AGCGCGGCCACGCCGCGGTGC 0.642 NaN 0 0 0 0.001168 0 5 25 UBL3 5412 broad.mit.edu 37 13 30341760 30341760 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr13:30341760G>C uc001usp.2 - 4 1441 c.296C>G c.(295-297)TCT>TGT p.S99C NM_007106 NP_009037 O95164 UBL3_HUMAN ubiquitin-like 3 precursor 99 intracellular|plasma membrane 0 Lung SC(185;0.0281) all cancers(112;0.0598)|GBM - Glioblastoma multiforme(144;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.147) CTTACCTTGAGAGTTTGGCTC 0.408 NaN 0 0 0 0.004878 0 36 39 USPL1 10208 broad.mit.edu 37 13 31211905 31211905 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr13:31211905C>T uc001utc.2 + 5 1325 c.893C>T c.(892-894)TCA>TTA p.S298L USPL1_uc001utb.2_Missense_Mutation_p.S117L|USPL1_uc001utd.2_5'UTR|USPL1_uc001ute.1_5'UTR NM_005800 NP_005791 Q5W0Q7 USPL1_HUMAN ubiquitin specific peptidase like 1 298 ubiquitin-dependent protein catabolic process ubiquitin thiolesterase activity pancreas(2)|skin(1) 3 Lung SC(185;0.0257)|Breast(139;0.203) all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134) AAACTTACCTCAGAAATATTT 0.348 NaN 0 0 0 0.009535 0 33 85 N4BP2L2 10443 broad.mit.edu 37 13 33018001 33018001 + Missense_Mutation SNP T T C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr13:33018001T>C uc010abe.1 - 7 695 c.673A>G c.(673-675)AAA>GAA p.K225E N4BP2L2_uc001uug.2_Missense_Mutation_p.K108E|N4BP2L2_uc010abd.1_Missense_Mutation_p.K138E|N4BP2L2_uc001uuh.2_Missense_Mutation_p.K56E|N4BP2L2_uc001uuj.2_Intron|N4BP2L2_uc010tdz.1_Missense_Mutation_p.K210E NM_033111 NP_149102 Q92802 N42L2_HUMAN phosphonoformate immuno-associated protein 5 Error:Variant_position_missing_in_Q92802_after_alignment 0 Lung SC(185;0.0262) all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243) TTCCATCTTTTTTCTTTATAT 0.343 NaN 0 0 0 0.009096 0 4 8 DCLK1 9201 broad.mit.edu 37 13 36686315 36686315 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr13:36686315C>G uc001uvf.2 - 3 647 c.414G>C c.(412-414)AAG>AAC p.K138N NM_004734 NP_004725 O15075 DCLK1_HUMAN doublecortin-like kinase 1 138 Doublecortin 1. cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus integral to plasma membrane ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity stomach(6)|ovary(2)|skin(1) 9 Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638) ACTCCAGTTTCTTGAAGGGCT 0.428 NaN 0 0 0 0.005443 0 26 54 SPG20 23111 broad.mit.edu 37 13 36909157 36909157 + Splice_Site SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr13:36909157C>G uc001uvn.2 - 3 1080 c.810_splice c.e3+1 p.Q270_splice SPG20_uc010ten.1_Intron|SPG20_uc001uvm.2_Splice_Site_p.Q270_splice|SPG20_uc001uvo.2_Splice_Site_p.Q270_splice|SPG20_uc001uvq.2_Splice_Site_p.Q270_splice|SPG20_uc001uvp.2_Splice_Site_p.Q270_splice NM_001142296 NP_001135768 Q8N0X7 SPG20_HUMAN spartin cell death cytoplasm ubiquitin protein ligase binding 0 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026) CTTTCGCTTACCTGAAGAAAC 0.378 NaN 0 0 0 0.009718 0 39 65 TSC22D1 8848 broad.mit.edu 37 13 45147906 45147906 + Nonsense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr13:45147906G>A uc001uzn.3 - 1 2796 c.2305C>T c.(2305-2307)CAA>TAA p.Q769* TSC22D1_uc001uzo.1_Intron NM_183422 NP_904358 Q15714 T22D1_HUMAN TSC22 domain family, member 1 isoform 1 769 Gln-rich. transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding transcription factor activity 0 all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118) ATCCCAGTTTGAGCAGGTGGA 0.493 NaN 0 0 0 0.006122 0 19 62 TSC22D1 8848 broad.mit.edu 37 13 45149590 45149590 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr13:45149590C>T uc001uzn.3 - 1 1112 c.621G>A c.(619-621)CAG>CAA p.Q207Q TSC22D1_uc001uzo.1_Silent_p.Q207Q NM_183422 NP_904358 Q15714 T22D1_HUMAN TSC22 domain family, member 1 isoform 1 207 His-rich. transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding transcription factor activity 0 all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118) TCACAACATTCTGTTGTGGAA 0.353 NaN 0 0 0 0.014323 0 22 19 KCTD4 386618 broad.mit.edu 37 13 45768414 45768414 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr13:45768414C>T uc001uzx.3 - 2 693 c.289G>A c.(289-291)GAA>AAA p.E97K GTF2F2_uc001uzv.2_Intron|GTF2F2_uc001uzw.2_Intron NM_198404 NP_940686 Q8WVF5 KCTD4_HUMAN potassium channel tetramerisation domain 97 BTB. voltage-gated potassium channel complex voltage-gated potassium channel activity 0 Lung NSC(96;6.55e-05)|Breast(139;0.00378)|Prostate(109;0.00438)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000249)|BRCA - Breast invasive adenocarcinoma(63;0.207) AATAGAAGTTCTCCATTTCGT 0.443 NaN 0 0 0 0.01441 0 86 127 LCP1 3936 broad.mit.edu 37 13 46701847 46701847 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr13:46701847G>C uc001vaz.3 - 16 1889 c.1763C>G c.(1762-1764)TCT>TGT p.S588C LCP1_uc010ack.2_Missense_Mutation_p.S157C|LCP1_uc001vay.3_Missense_Mutation_p.S185C|LCP1_uc001vba.3_Missense_Mutation_p.S588C NM_002298 NP_002289 P13796 PLSL_HUMAN L-plastin 588 Actin-binding 2.|CH 4. regulation of intracellular protein transport|T cell activation involved in immune response cell junction|cytosol|ruffle membrane calcium ion binding lung(4)|ovary(3) 7 Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.39e-05) TCGGGCCATAGAGATGGCATA 0.493 NaN T BCL6 NHL 0 0 0 0.01441 0 59 36 LPAR6 10161 broad.mit.edu 37 13 48985612 48985612 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr13:48985612G>A uc010acu.2 - 1 2042 c.948C>T c.(946-948)TTC>TTT p.F316F RB1_uc001vcb.2_Intron|LPAR6_uc001vcc.1_Intron|LPAR6_uc001vce.2_Silent_p.F316F|LPAR6_uc001vcf.2_Silent_p.F316F NM_001162498 NP_001155970 P43657 LPAR6_HUMAN G-protein coupled purinergic receptor P2Y5 316 Cytoplasmic (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled p.?(4) ovary(4) 4 GAACTTCAGAGAATCTGAAGT 0.338 NaN 0 0 0 0.011902 0 46 61 RCBTB2 1102 broad.mit.edu 37 13 49085972 49085972 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr13:49085972G>A uc001vch.2 - 9 1088 c.717C>T c.(715-717)CTC>CTT p.L239L RCBTB2_uc010tgg.1_Silent_p.L244L|RCBTB2_uc001vci.2_Silent_p.L215L|RCBTB2_uc010tgh.1_Missense_Mutation_p.S13L|RCBTB2_uc001vcj.2_Silent_p.L243L|RCBTB2_uc010acv.1_RNA|RCBTB2_uc010tgi.1_Silent_p.L215L NM_001268 NP_001259 O95199 RCBT2_HUMAN regulator of chromosome condensation and BTB 239 RCC1 4. Ran guanyl-nucleotide exchange factor activity ovary(2)|lung(2)|skin(1) 5 all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116) CACTGTTGCCGAGTCCAAGCT 0.527 NaN 0 0 0 0.013537 0 12 31 ATP7B 540 broad.mit.edu 37 13 52548420 52548420 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr13:52548420C>T uc001vfw.2 - 2 1093 c.936G>A c.(934-936)CAG>CAA p.Q312Q ATP7B_uc010adv.2_Silent_p.Q312Q|ATP7B_uc001vfx.2_Silent_p.Q312Q|ATP7B_uc001vfy.2_Intron|ATP7B_uc010tgt.1_Silent_p.Q312Q|ATP7B_uc010tgu.1_Silent_p.Q312Q|ATP7B_uc010tgv.1_Silent_p.Q312Q|ATP7B_uc010tgw.1_Silent_p.Q280Q NM_000053 NP_000044 P35670 ATP7B_HUMAN ATPase, Cu++ transporting, beta polypeptide 312 HMA 3.|Cytoplasmic (Potential). ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) CGATAGCCCTCTGCAGAGCCA 0.502 NaN Wilson_disease 0 0 0 0.008361 0 29 65 OLFM4 10562 broad.mit.edu 37 13 53624514 53624514 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr13:53624514C>G uc001vhl.2 + 5 1141 c.1141C>G c.(1141-1143)CAA>GAA p.Q381E OLFM4_uc001vhk.1_3'UTR NM_006418 NP_006409 Q6UX06 OLFM4_HUMAN olfactomedin 4 precursor 381 Olfactomedin-like. cell adhesion extracellular space skin(1) 1 Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.13e-08) TGTTGCTTGGCAAGATATTGA 0.413 NaN 0 0 0 0.01441 0 57 149 PCDH17 27253 broad.mit.edu 37 13 58208221 58208221 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr13:58208221C>T uc001vhq.1 + 1 2433 c.1541C>T c.(1540-1542)TCG>TTG p.S514L PCDH17_uc010aec.1_Missense_Mutation_p.S514L NM_001040429 NP_001035519 O14917 PCD17_HUMAN protocadherin 17 precursor 514 Extracellular (Potential).|Cadherin 5. 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) ATCCTGCCCTCGCACATCGGC 0.592 NaN 0 0 0 0.00333 0 23 19 PCDH20 64881 broad.mit.edu 37 13 61985735 61985735 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr13:61985735G>A uc001vid.3 - 2 2861 c.2497C>T c.(2497-2499)CTC>TTC p.L833F PCDH20_uc010thj.1_Missense_Mutation_p.L833F NM_022843 NP_073754 Q8N6Y1 PCD20_HUMAN protocadherin 20 806 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|breast(1)|central_nervous_system(1) 6 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) GTGGAGTGGAGAGGCTCGGGA 0.413 NaN 0 0 0 0.010818 0 33 50 DACH1 1602 broad.mit.edu 37 13 72134058 72134058 + Silent SNP G G T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr13:72134058G>T uc010thn.1 - 6 1752 c.1329C>A c.(1327-1329)GCC>GCA p.A443A DACH1_uc010tho.1_Intron|DACH1_uc010thp.1_Intron NM_080759 NP_542937 Q9UI36 DACH1_HUMAN dachshund homolog 1 isoform a 495 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding breast(1) 1 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) CCAGAGAGGGGGCAGGTGAGG 0.542 NaN 1 0 0.00116845 0.001168 0.00118816 5 13 KCTD12 115207 broad.mit.edu 37 13 77459558 77459558 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr13:77459558C>T uc010aeu.1 - 1 983 c.726G>A c.(724-726)ACG>ACA p.T242T KCTD12_uc001vka.1_Silent_p.T242T NM_138444 NP_612453 Q96CX2 KCD12_HUMAN potassium channel tetramerisation domain 242 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity ovary(1) 1 Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.0499) TGGCCAGCGACGTCTTTCCGC 0.647 NaN OREG0022449 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.004482 0 8 2 MYCBP2 23077 broad.mit.edu 37 13 77651516 77651516 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr13:77651516G>A uc001vkf.2 - 68 11468 c.11377C>T c.(11377-11379)CTG>TTG p.L3793L MYCBP2_uc010aev.2_Silent_p.L3197L|MYCBP2_uc001vke.2_Silent_p.L413L NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 3793 DOC. 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) CTGGAATCCAGATCAACCTGG 0.423 NaN 0 0 0 0.010504 0 21 25 GPC6 10082 broad.mit.edu 37 13 93879803 93879803 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr13:93879803G>A uc001vlt.2 + 1 726 c.94G>A c.(94-96)GAG>AAG p.E32K GPC6_uc010tig.1_Missense_Mutation_p.E32K NM_005708 NP_005699 Q9Y625 GPC6_HUMAN glypican 6 precursor 32 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding 0 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217) GAGCTGCGGAGAGGTCCGCCA 0.672 NaN OREG0022460 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.004482 0 8 15 ATP11A 23250 broad.mit.edu 37 13 113508799 113508799 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr13:113508799C>T uc001vsi.3 + 19 2286 c.2198C>T c.(2197-2199)ACG>ATG p.T733M ATP11A_uc001vsj.3_Missense_Mutation_p.T733M|ATP11A_uc001vsm.1_Missense_Mutation_p.T609M|ATP11A_uc010ago.2_RNA NM_015205 NP_056020 P98196 AT11A_HUMAN ATPase, class VI, type 11A isoform a 733 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 large_intestine(2)|ovary(2) 4 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_lung(25;0.134)|all_epithelial(44;0.141) CTGAGCAAGACGGTCCTGCGC 0.657 NaN 0 0 0 0.001855 0 13 11 LAMP1 3916 broad.mit.edu 37 13 113976673 113976673 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr13:113976673C>T uc001vtm.1 + 9 1472 c.1191C>T c.(1189-1191)CTC>CTT p.L397L LAMP1_uc010tka.1_Silent_p.L344L NM_005561 NP_005552 P11279 LAMP1_HUMAN lysosomal-associated membrane protein 1 397 Helical; (Potential). endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction central_nervous_system(2) 2 Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188) all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246) GGCTGGTCCTCATCGTCCTCA 0.627 NaN 0 0 0 0.013726 0 30 15 CCNB1IP1 57820 broad.mit.edu 37 14 20781943 20781943 + Silent SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr14:20781943G>C uc001vwv.2 - 6 964 c.315C>G c.(313-315)CTC>CTG p.L105L CCNB1IP1_uc001vww.2_Silent_p.L105L|CCNB1IP1_uc001vwx.2_Silent_p.L105L|CCNB1IP1_uc001vwy.2_Silent_p.L105L|CCNB1IP1_uc001vwz.2_Silent_p.L105L NM_182851 NP_878271 Q9NPC3 CIP1_HUMAN cyclin B1 interacting protein 1 isoform 3 105 chromosome|nucleus ligase activity|metal ion binding|protein binding HMGA2/CCNB1IP1(2) soft_tissue(2)|ovary(1) 3 all_cancers(95;0.00092) all_lung(585;0.235) Epithelial(56;8.86e-07)|all cancers(55;4.98e-06) GBM - Glioblastoma multiforme(265;0.0164) ATTCTTGATAGAGACGTTCCT 0.338 NaN T HMGA2 leiomyoma 0 0 0 0.010729 0 11 37 OSGEP 55644 broad.mit.edu 37 14 20916914 20916914 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr14:20916914G>A uc001vxf.2 - 6 970 c.614C>T c.(613-615)TCA>TTA p.S205L NM_017807 NP_060277 Q9NPF4 OSGEP_HUMAN O-sialoglycoprotein endopeptidase 205 proteolysis|tRNA processing metal ion binding|metalloendopeptidase activity|protein binding 0 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;1.09e-07)|all cancers(55;1.19e-06) GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196) CAGGATCCCTGAGAATGAGAC 0.438 NaN 0 0 0 0.007413 0 16 42 FLJ10357 55701 broad.mit.edu 37 14 21549964 21549964 + Missense_Mutation SNP G G T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr14:21549964G>T uc001vzp.2 + 14 2966 c.2937G>T c.(2935-2937)CAG>CAT p.Q979H FLJ10357_uc001vzo.1_Missense_Mutation_p.Q58H|FLJ10357_uc010aij.2_RNA|FLJ10357_uc010tln.1_Missense_Mutation_p.Q265H NM_018071 NP_060541 Q8TER5 ARH40_HUMAN hypothetical protein LOC55701 979 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity 0 all_cancers(95;0.00185) OV - Ovarian serous cystadenocarcinoma(11;5.79e-11)|Epithelial(56;8.35e-09)|all cancers(55;4.23e-08) GBM - Glioblastoma multiforme(265;0.0197) GAGGGGCCCAGTGGGGGCCCC 0.711 NaN 1 0 0.000602214 0.000602 0.000613236 5 1 HNRNPC 3183 broad.mit.edu 37 14 21699232 21699232 + Splice_Site SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr14:21699232C>T uc001vzy.2 - 4 486 c.242_splice c.e4-1 p.D81_splice HNRNPC_uc001vzw.2_Splice_Site_p.D81_splice|HNRNPC_uc001wad.2_Intron|HNRNPC_uc001vzx.2_Intron|HNRNPC_uc001vzz.2_Splice_Site_p.D81_splice|HNRNPC_uc001waa.2_Splice_Site_p.D81_splice|HNRNPC_uc010ail.2_Splice_Site_p.D81_splice|HNRNPC_uc010tlq.1_Splice_Site|HNRNPC_uc001wab.2_Splice_Site_p.D81_splice|HNRNPC_uc001wac.2_Splice_Site_p.D81_splice|HNRNPC_uc010tlr.1_5'Flank|HNRNPC_uc001waf.2_Splice_Site_p.D81_splice|HNRNPC_uc001wae.2_Splice_Site_p.D81_splice NM_031314 NP_112604 P07910 HNRPC_HUMAN heterogeneous nuclear ribonucleoprotein C catalytic step 2 spliceosome|nucleoplasm identical protein binding|nucleotide binding|RNA binding 0 all_cancers(95;0.00176) Epithelial(56;1.08e-06)|all cancers(55;8.95e-06) GBM - Glioblastoma multiforme(265;0.00783) AGGTTAATATCTGAAAAACAA 0.338 NaN 0 0 0 0.007413 0 19 39 CHD8 57680 broad.mit.edu 37 14 21862166 21862166 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr14:21862166C>T uc001was.1 - 32 5045 c.4951G>A c.(4951-4953)GAT>AAT p.D1651N CHD8_uc001war.1_Missense_Mutation_p.D1547N|SNORD9_uc001wat.1_5'Flank NM_020920 NP_065971 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 1930 ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1) 10 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) AGCTCCCCATCATGCCGAACA 0.552 NaN 0 0 0 0.001855 0 14 20 METTL3 56339 broad.mit.edu 37 14 21967731 21967731 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr14:21967731C>T uc001wbc.2 - 8 1449 c.1357G>A c.(1357-1359)GAT>AAT p.D453N METTL3_uc001wbb.2_Missense_Mutation_p.D298N NM_019852 NP_062826 Q86U44 MTA70_HUMAN methyltransferase like 3 453 gene expression nuclear speck mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding pancreas(1)|skin(1) 2 all_cancers(95;0.000628) Epithelial(56;6.61e-06) GBM - Glioblastoma multiforme(265;0.0146) ATAATTTCATCTACCCGTTCA 0.423 NaN 0 0 0 0.008361 0 31 76 MYH7 4625 broad.mit.edu 37 14 23887435 23887435 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr14:23887435C>T uc001wjx.2 - 30 4259 c.4153G>A c.(4153-4155)GAG>AAG p.E1385K MIR208B_hsa-mir-208b|MI0005570_5'Flank NM_000257 NP_000248 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1385 Potential. 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) TCCTCGAGCTCCTCAGTCCGC 0.637 NaN 0 0 0 0.006122 0 18 46 AP1G2 8906 broad.mit.edu 37 14 24036487 24036487 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr14:24036487C>T uc001wkl.2 - 2 374 c.37G>A c.(37-39)GAA>AAA p.E13K AP1G2_uc001wkj.2_5'UTR|AP1G2_uc001wkk.3_5'UTR|AP1G2_uc001wkn.2_5'UTR|uc001wko.1_RNA|AP1G2_uc001wkp.1_5'Flank|AP1G2_uc010tnp.1_Missense_Mutation_p.E13K|AP1G2_uc010aks.2_5'UTR|AP1G2_uc010akt.2_5'UTR|AP1G2_uc010tnq.1_RNA NM_003917 NP_003908 O75843 AP1G2_HUMAN adaptor-related protein complex 1, gamma 2 13 interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport AP-1 adaptor complex|endosome membrane protein binding|protein transporter activity ovary(1) 1 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00672) CGAATCTCTTCGATGAGGTCC 0.637 NaN OREG0022606 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.001168 0 5 14 LRRC16B 90668 broad.mit.edu 37 14 24528595 24528595 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr14:24528595G>A uc001wlj.2 + 21 1900 c.1743G>A c.(1741-1743)ATG>ATA p.M581I LRRC16B_uc001wlk.2_5'Flank NM_138360 NP_612369 Q8ND23 LR16B_HUMAN leucine rich repeat containing 16B 581 ovary(2)|breast(2)|pancreas(1) 5 GBM - Glioblastoma multiforme(265;0.019) GCAATGGCATGGAGGACATCG 0.642 NaN 0 0 0 0.00308 0 7 10 LRRC16B 90668 broad.mit.edu 37 14 24532014 24532014 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr14:24532014G>A uc001wlj.2 + 29 2822 c.2665G>A c.(2665-2667)GAC>AAC p.D889N LRRC16B_uc001wlk.2_5'UTR NM_138360 NP_612369 Q8ND23 LR16B_HUMAN leucine rich repeat containing 16B 889 ovary(2)|breast(2)|pancreas(1) 5 GBM - Glioblastoma multiforme(265;0.019) CCGGAACCATGACCATGAGGA 0.627 NaN 0 0 0 0.004482 0 7 39 RNF31 55072 broad.mit.edu 37 14 24617580 24617580 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr14:24617580G>A uc001wmn.1 + 3 702 c.453G>A c.(451-453)CTG>CTA p.L151L PSME2_uc001wmj.2_5'Flank|PSME2_uc001wmk.2_5'Flank|RNF31_uc001wml.1_5'UTR|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_5'UTR|RNF31_uc001wmo.1_5'Flank|RNF31_uc001wmp.2_5'Flank NM_017999 NP_060469 Q96EP0 RNF31_HUMAN ring finger protein 31 151 Polyubiquitin-binding. CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway CD40 receptor complex|internal side of plasma membrane|LUBAC complex ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding large_intestine(1)|ovary(1) 2 GBM - Glioblastoma multiforme(265;0.00861) CAGTCACACTGGAAGTACTGC 0.557 NaN 0 0 0 0.004007 0 14 16 REC8 9985 broad.mit.edu 37 14 24641766 24641766 + Missense_Mutation SNP T T A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr14:24641766T>A uc001wmr.2 + 2 432 c.5T>A c.(4-6)TTC>TAC p.F2Y REC8_uc001wms.2_Missense_Mutation_p.F2Y NM_005132 NP_005123 O95072 REC8_HUMAN REC8 homolog 2 mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion nucleoplasm 0 GBM - Glioblastoma multiforme(265;0.00839) GGGACAATGTTCTACTATCCC 0.592 NaN 0 0 0 0.010729 0 9 7 IPO4 79711 broad.mit.edu 37 14 24656644 24656644 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr14:24656644G>C uc001wmv.1 - 6 681 c.550C>G c.(550-552)CTG>GTG p.L184V IPO4_uc001wmt.1_5'Flank|IPO4_uc001wmu.2_5'UTR|IPO4_uc001wmx.1_Missense_Mutation_p.L48V|IPO4_uc001wmy.1_Missense_Mutation_p.L48V|IPO4_uc010tnz.1_RNA|IPO4_uc001wmw.1_RNA|IPO4_uc001wmz.1_Missense_Mutation_p.L184V NM_024658 NP_078934 Q8TEX9 IPO4_HUMAN importin 4 184 intracellular protein transport cytoplasm|nucleus protein binding|protein transporter activity kidney(1) 1 GBM - Glioblastoma multiforme(265;0.0087) ATGGTGGTCAGAGTGCGCAGG 0.577 NaN 0 0 0 0.006122 0 16 64 IPO4 79711 broad.mit.edu 37 14 24656660 24656660 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr14:24656660G>C uc001wmv.1 - 6 665 c.534C>G c.(532-534)TTC>TTG p.F178L IPO4_uc001wmt.1_5'Flank|IPO4_uc001wmu.2_5'UTR|IPO4_uc001wmx.1_Missense_Mutation_p.F42L|IPO4_uc001wmy.1_Missense_Mutation_p.F42L|IPO4_uc010tnz.1_RNA|IPO4_uc001wmw.1_RNA|IPO4_uc001wmz.1_Missense_Mutation_p.F178L NM_024658 NP_078934 Q8TEX9 IPO4_HUMAN importin 4 178 intracellular protein transport cytoplasm|nucleus protein binding|protein transporter activity kidney(1) 1 GBM - Glioblastoma multiforme(265;0.0087) GCAGGGAGTAGAAGAGCAGCC 0.592 NaN 0 0 0 0.004007 0 16 64 IPO4 79711 broad.mit.edu 37 14 24656970 24656970 + Nonsense_Mutation SNP G G T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr14:24656970G>T uc001wmv.1 - 5 442 c.311C>A c.(310-312)TCA>TAA p.S104* IPO4_uc001wmu.2_5'UTR|IPO4_uc001wmx.1_5'UTR|IPO4_uc001wmy.1_5'UTR|IPO4_uc010tnz.1_RNA|IPO4_uc001wmw.1_RNA|IPO4_uc001wmz.1_Nonsense_Mutation_p.S104* NM_024658 NP_078934 Q8TEX9 IPO4_HUMAN importin 4 104 intracellular protein transport cytoplasm|nucleus protein binding|protein transporter activity kidney(1) 1 GBM - Glioblastoma multiforme(265;0.0087) AATGGTGGCTGAGAGCTGGGC 0.572 NaN 1 0 3.27435e-08 0.00245 3.38028e-08 14 27 TGM1 7051 broad.mit.edu 37 14 24731453 24731453 + Missense_Mutation SNP G G A rs145197904 byFrequency TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr14:24731453G>A uc001wod.2 - 2 230 c.106C>T c.(106-108)CGC>TGC p.R36C TGM1_uc010tog.1_5'UTR NM_000359 NP_000350 P22735 TGM1_HUMAN transglutaminase 1 36 Membrane anchorage region. cell envelope organization|keratinization|peptide cross-linking cornified envelope|intrinsic to membrane acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity central_nervous_system(2)|ovary(1) 3 GBM - Glioblastoma multiforme(265;0.0186) L-Glutamine(DB00130) CCTCCTCTGCGAGAGCGTCCG 0.647 NaN 0 0 0 0.008291 0 9 32 C14orf21 161424 broad.mit.edu 37 14 24772312 24772312 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr14:24772312C>T uc001wol.1 + 6 1239 c.1176C>T c.(1174-1176)GTC>GTT p.V392V C14orf21_uc001wom.1_5'UTR NM_174913 NP_777573 Q86U38 CN021_HUMAN hypothetical protein LOC161424 392 RNA binding breast(2)|central_nervous_system(1)|skin(1) 4 GBM - Glioblastoma multiforme(265;0.0185) TGAGCCCTGTCTTGGAAGCTG 0.478 NaN 0 0 0 0.012319 0 21 51 NYNRIN 57523 broad.mit.edu 37 14 24883866 24883866 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr14:24883866G>A uc001wpf.3 + 9 3229 c.2911G>A c.(2911-2913)GTC>ATC p.V971I NM_025081 NP_079357 Q9P2P1 NYNRI_HUMAN hypothetical protein LOC57523 971 DNA integration integral to membrane DNA binding ovary(2)|central_nervous_system(1) 3 CTCAGCCAGTGTCACTGAGCT 0.557 NaN 0 0 0 0.013537 0 9 16 NYNRIN 57523 broad.mit.edu 37 14 24884334 24884334 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr14:24884334G>A uc001wpf.3 + 9 3697 c.3379G>A c.(3379-3381)GAC>AAC p.D1127N NM_025081 NP_079357 Q9P2P1 NYNRI_HUMAN hypothetical protein LOC57523 1127 DNA integration integral to membrane DNA binding ovary(2)|central_nervous_system(1) 3 GCAGAAGCCTGACTGGCAGTG 0.622 NaN 0 0 0 0.010729 0 12 14 NOVA1 4857 broad.mit.edu 37 14 27064680 27064680 + Silent SNP A A G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr14:27064680A>G uc001wpy.2 - 2 534 c.216T>C c.(214-216)ATT>ATC p.I72I NOVA1_uc001wpz.2_Silent_p.I72I|NOVA1_uc001wqa.2_5'UTR|NOVA1_uc001wqb.2_Silent_p.I72I NM_002515 NP_002506 P51513 NOVA1_HUMAN neuro-oncological ventral antigen 1 isoform 1 72 KH 1. locomotory behavior|RNA splicing|synaptic transmission nucleus RNA binding skin(2)|upper_aerodigestive_tract(1)|breast(1)|liver(1) 5 GBM - Glioblastoma multiforme(265;0.0135) GCAACTGAACAATTGTCTGTC 0.403 NaN 0 0 0 0.012319 0 22 103 HECTD1 25831 broad.mit.edu 37 14 31602842 31602842 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr14:31602842C>G uc001wrc.1 - 23 4107 c.3618G>C c.(3616-3618)GAG>GAC p.E1206D HECTD1_uc001wrd.1_Missense_Mutation_p.E721D 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) ACCCTTGTTTCTCATCCTTTG 0.363 NaN 0 0 0 0.00245 0 15 51 FOXA1 3169 broad.mit.edu 37 14 38060825 38060825 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr14:38060825C>T uc001wuf.2 - 2 1476 c.1164G>A c.(1162-1164)CTG>CTA p.L388L FOXA1_uc010tpz.1_Silent_p.L355L NM_004496 NP_004487 P55317 FOXA1_HUMAN forkhead box A1 388 chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development 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 transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding 0 Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239) GBM - Glioblastoma multiforme(112;0.0222) GGTCCCCTTTCAGGTGCAGCT 0.637 NaN 0 0 0 0.004672 0 3 9 LRFN5 145581 broad.mit.edu 37 14 42356993 42356993 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr14:42356993G>C uc001wvm.2 + 3 2363 c.1165G>C c.(1165-1167)GAG>CAG p.E389Q LRFN5_uc010ana.2_Missense_Mutation_p.E389Q NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III 389 Extracellular (Potential). integral to membrane ovary(5)|pancreas(2)|central_nervous_system(1) 8 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) CCATATCCATGAGCCTGATCC 0.378 NaN HNSCC(30;0.082) 0 0 0 0.008871 0 21 53 FAM179B 23116 broad.mit.edu 37 14 45468596 45468596 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr14:45468596C>G uc001wvv.2 + 3 2443 c.2234C>G c.(2233-2235)TCT>TGT p.S745C FAM179B_uc001wvw.2_Missense_Mutation_p.S745C|FAM179B_uc010anc.2_RNA|FAM179B_uc001wvu.2_Missense_Mutation_p.S745C NM_015091 NP_055906 Q9Y4F4 F179B_HUMAN hypothetical protein LOC23116 745 binding skin(2)|upper_aerodigestive_tract(1) 3 ACAAATCTTTCTGGGAAATGT 0.353 NaN 0 0 0 0.00245 0 13 102 FANCM 57697 broad.mit.edu 37 14 45605471 45605471 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr14:45605471G>A uc001wwd.3 + 1 336 c.237G>A c.(235-237)GCG>GCA p.A79A FANCM_uc001wwc.2_Silent_p.A79A|FANCM_uc010anf.2_Silent_p.A79A|FKBP3_uc010tqf.1_5'Flank NM_020937 NP_065988 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 79 DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding ovary(3)|lung(2)|breast(2) 7 GCACCTCCGCGGGCGCCCTGT 0.597 NaN Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 0 0 0 0.006214 0 9 37 KLHDC2 23588 broad.mit.edu 37 14 50238388 50238388 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr14:50238388G>A uc001wwx.2 + 2 630 c.230G>A c.(229-231)AGA>AAA p.R77K SDCCAG1_uc010anj.1_Intron|KLHDC2_uc001wwy.2_Missense_Mutation_p.R77K|KLHDC2_uc010anp.2_Missense_Mutation_p.R77K NM_014315 NP_055130 Q9Y2U9 KLDC2_HUMAN kelch domain containing 2 77 Kelch 1. nucleus protein binding ovary(1) 1 all_epithelial(31;0.000959)|Breast(41;0.0117) GAGACTGGAAGATGGTAAATG 0.229 NaN 0 0 0 0.006122 0 19 54 TXNDC16 57544 broad.mit.edu 37 14 52936858 52936858 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr14:52936858C>T uc001wzs.2 - 16 1964 c.1515G>A c.(1513-1515)TCG>TCA p.S505S TXNDC16_uc010tqu.1_Silent_p.S500S|TXNDC16_uc010aoe.2_RNA NM_020784 NP_065835 Q9P2K2 TXD16_HUMAN thioredoxin domain containing 16 isoform 1 505 cell redox homeostasis extracellular region 0 Breast(41;0.0716) CTTCTTGGATCGATGTTATAT 0.289 NaN 0 0 0 0.013537 0 13 83 DLGAP5 9787 broad.mit.edu 37 14 55642735 55642735 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr14:55642735C>T uc001xbs.2 - 9 1268 c.1051G>A c.(1051-1053)GAT>AAT p.D351N DLGAP5_uc001xbt.2_Missense_Mutation_p.D351N NM_014750 NP_055565 Q15398 DLGP5_HUMAN discs large homolog 7 isoform a 351 cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition nucleus|spindle pole centrosome phosphoprotein phosphatase activity|protein binding ovary(1)|skin(1) 2 TGAGACTCATCACTAAAAACA 0.313 NaN 0 0 0 0.006122 0 19 60 SLC35F4 341880 broad.mit.edu 37 14 58047974 58047974 + Missense_Mutation SNP C C A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr14:58047974C>A uc001xdb.1 - 4 873 c.873G>T c.(871-873)TTG>TTT p.L291F SLC35F4_uc010aoz.1_RNA|SLC35F4_uc010apa.1_Missense_Mutation_p.L132F NM_001080455 NP_001073924 solute carrier family 35, member F4 ovary(2) 2 TCCATGACAGCAAGAAGACAA 0.443 NaN 1 0 0.000274275 0.004482 0.000279426 8 20 MNAT1 4331 broad.mit.edu 37 14 61285476 61285476 + Nonsense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr14:61285476C>T uc001xfd.2 + 6 709 c.598C>T c.(598-600)CAG>TAG p.Q200* MNAT1_uc001xfe.2_Intron NM_002431 NP_002422 P51948 MAT1_HUMAN menage a trois 1 (CAK assembly factor) 200 Missing (in Ref. 3; AAB05248). 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|protein complex assembly|protein phosphorylation|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 cytoplasm|holo TFIIH complex protein N-terminus binding|zinc ion binding ovary(1)|lung(1) 2 OV - Ovarian serous cystadenocarcinoma(108;0.0174) GCTTTTGGCTCAGCATAAAGA 0.368 NaN Direct_reversal_of_damage|NER 0 0 0 0.010504 0 21 66 SYNE2 23224 broad.mit.edu 37 14 64608747 64608747 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr14:64608747G>A uc001xgm.2 + 82 15477 c.15247G>A c.(15247-15249)GAC>AAC p.D5083N SYNE2_uc001xgl.2_Missense_Mutation_p.D5083N|SYNE2_uc010apy.2_Missense_Mutation_p.D1468N|SYNE2_uc001xgn.2_Missense_Mutation_p.D45N|SYNE2_uc001xgo.2_RNA NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 5083 Spectrin 2.|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) TTCAGATGAAGACTCCGTGCA 0.383 NaN 0 0 0 0.010729 0 12 41 SYNE2 23224 broad.mit.edu 37 14 64680937 64680937 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr14:64680937C>T uc001xgm.2 + 106 19312 c.19082C>T c.(19081-19083)TCT>TTT p.S6361F SYNE2_uc001xgl.2_Missense_Mutation_p.S6361F|SYNE2_uc010apy.2_Missense_Mutation_p.S2746F|SYNE2_uc001xgn.2_Missense_Mutation_p.S1323F|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_Missense_Mutation_p.S331F|SYNE2_uc001xgq.2_Missense_Mutation_p.S726F|SYNE2_uc001xgr.2_Missense_Mutation_p.S144F|SYNE2_uc010tsi.1_5'UTR|SYNE2_uc001xgs.2_5'UTR|SYNE2_uc001xgt.2_5'Flank NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 6361 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) AAGGAGGCCTCTGAGAATGAA 0.468 NaN 0 0 0 0.013114 0 48 51 SYNE2 23224 broad.mit.edu 37 14 64685228 64685228 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr14:64685228C>T uc001xgm.2 + 108 19816 c.19586C>T c.(19585-19587)TCA>TTA p.S6529L SYNE2_uc001xgl.2_Missense_Mutation_p.S6552L|SYNE2_uc010apy.2_Missense_Mutation_p.S2914L|SYNE2_uc001xgn.2_Missense_Mutation_p.S1491L|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_Missense_Mutation_p.S499L|SYNE2_uc001xgq.2_Missense_Mutation_p.S894L|SYNE2_uc001xgr.2_Missense_Mutation_p.S312L|SYNE2_uc010tsi.1_Missense_Mutation_p.S186L|SYNE2_uc001xgs.2_Missense_Mutation_p.S186L|SYNE2_uc001xgt.2_Missense_Mutation_p.S60L NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 6529 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) GAGCAGCAGTCAGGTACTGCC 0.512 NaN 0 0 0 0.000602 0 5 19 MTHFD1 4522 broad.mit.edu 37 14 64909033 64909033 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr14:64909033C>G uc001xhb.2 + 21 2436 c.2049C>G c.(2047-2049)ATC>ATG p.I683M MTHFD1_uc010aqf.2_Missense_Mutation_p.I739M NM_005956 NP_005947 P11586 C1TC_HUMAN methylenetetrahydrofolate dehydrogenase 1 683 Formyltetrahydrofolate synthetase. folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process cytosol|mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|methylenetetrahydrofolate dehydrogenase|protein binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488) NADH(DB00157)|Tetrahydrofolic acid(DB00116) TTTTTAACATCAAATGCCGGT 0.527 NaN 0 0 0 0.010771 0 45 74 ZBTB1 22890 broad.mit.edu 37 14 64989728 64989728 + Missense_Mutation SNP T T G rs142978553 byFrequency TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr14:64989728T>G uc001xhh.3 + 4 1937 c.1506T>G c.(1504-1506)GAT>GAG p.D502E ZBTB1_uc010aqg.2_Missense_Mutation_p.D502E|ZBTB1_uc001xhi.2_Missense_Mutation_p.D502E NM_001123329 NP_001116801 Q9Y2K1 ZBTB1_HUMAN zinc finger and BTB domain containing 1 isoform 502 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294) UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012) AAATAAGAGATATGTTTGTTG 0.398 NaN 0 0 0 0.004289 0 38 97 ZBTB1 22890 broad.mit.edu 37 14 64990098 64990098 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr14:64990098G>C uc001xhh.3 + 4 2307 c.1876G>C c.(1876-1878)GAT>CAT p.D626H ZBTB1_uc010aqg.2_Missense_Mutation_p.D626H|ZBTB1_uc001xhi.2_Missense_Mutation_p.D626H NM_001123329 NP_001116801 Q9Y2K1 ZBTB1_HUMAN zinc finger and BTB domain containing 1 isoform 626 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294) UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012) ACTGCACAATGATATGCACAA 0.388 NaN 0 0 0 0.01441 0 48 54 HSPA2 3306 broad.mit.edu 37 14 65009223 65009223 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr14:65009223C>T uc001xhj.2 + 2 1732 c.1656C>T c.(1654-1656)ATC>ATT p.I552I HSPA2_uc001xhk.3_Silent_p.I552I NM_021979 NP_068814 P54652 HSP72_HUMAN heat shock 70kDa protein 2 552 response to unfolded protein|spermatid development cell surface ATP binding|unfolded protein binding skin(1) 1 all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045) CCTACAACATCAAGCAGACGG 0.552 NaN 0 0 0 0.00333 0 25 51 ARG2 384 broad.mit.edu 37 14 68114822 68114822 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr14:68114822C>T uc001xjs.2 + 7 897 c.781C>T c.(781-783)CCA>TCA p.P261S NM_001172 NP_001163 P78540 ARGI2_HUMAN arginase 2 precursor 261 arginine metabolic process|nitric oxide biosynthetic process|urea cycle mitochondrial matrix arginase activity|metal ion binding 0 all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928) L-Arginine(DB00125)|L-Ornithine(DB00129) TACACTGGCTCCAGCCACAGG 0.388 NaN 0 0 0 0.00245 0 14 37 PCNX 22990 broad.mit.edu 37 14 71575342 71575342 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr14:71575342C>T uc001xmo.2 + 34 6769 c.6323C>T c.(6322-6324)TCT>TTT p.S2108F PCNX_uc010are.1_Missense_Mutation_p.S1997F|PCNX_uc010arf.1_Missense_Mutation_p.S896F|PCNX_uc001xmp.2_Missense_Mutation_p.S192F NM_014982 NP_055797 Q96RV3 PCX1_HUMAN pecanex-like 1 2108 Ser-rich. integral to membrane ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) AGCTCTCACTCTGTGCAGTCG 0.532 NaN 0 0 0 0.012319 0 21 30 SIPA1L1 26037 broad.mit.edu 37 14 72196839 72196839 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr14:72196839G>A uc001xms.2 + 18 5093 c.4745G>A c.(4744-4746)AGA>AAA p.R1582K SIPA1L1_uc001xmt.2_Missense_Mutation_p.R1561K|SIPA1L1_uc001xmu.2_Missense_Mutation_p.R1561K|SIPA1L1_uc001xmv.2_Missense_Mutation_p.R1582K|SIPA1L1_uc010ttm.1_Missense_Mutation_p.R1036K|SIPA1L1_uc001xmw.2_Missense_Mutation_p.R347K NM_015556 NP_056371 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1582 actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity ovary(3)|breast(1) 4 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) GCCTTGCACAGAACACTGTCG 0.547 NaN 0 0 0 0.010504 0 19 44 RBM25 58517 broad.mit.edu 37 14 73577788 73577788 + Missense_Mutation SNP A A T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr14:73577788A>T uc001xno.2 + 15 2150 c.1942A>T c.(1942-1944)ATT>TTT p.I648F RBM25_uc010ttu.1_Missense_Mutation_p.I648F|RBM25_uc001xnp.2_Missense_Mutation_p.I443F NM_021239 NP_067062 P49756 RBM25_HUMAN RNA binding motif protein 25 648 apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing cytoplasm|nuclear speck mRNA binding|nucleotide binding|protein binding central_nervous_system(2)|ovary(1)|breast(1) 4 BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688) TGGTATTATTATTCCTCATGA 0.468 NaN 0 0 0 0.013537 0 11 42 TTLL5 23093 broad.mit.edu 37 14 76238194 76238194 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr14:76238194G>C uc001xrx.2 + 21 2338 c.2133G>C c.(2131-2133)CAG>CAC p.Q711H TTLL5_uc010ask.1_Missense_Mutation_p.Q725H|TTLL5_uc001xrz.2_Missense_Mutation_p.Q286H|TTLL5_uc001xry.1_RNA NM_015072 NP_055887 Q6EMB2 TTLL5_HUMAN tubulin tyrosine ligase-like family, member 5 711 protein modification process|transcription, DNA-dependent centrosome|cilium|microtubule basal body|nucleus tubulin-tyrosine ligase activity ovary(2)|central_nervous_system(1) 3 BRCA - Breast invasive adenocarcinoma(234;0.029) AGGATGAACAGATGGTAAGGC 0.328 NaN 0 0 0 0.005524 0 37 53 ZC3H14 79882 broad.mit.edu 37 14 89039256 89039256 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr14:89039256G>C uc001xww.2 + 6 991 c.766G>C c.(766-768)GAA>CAA p.E256Q ZC3H14_uc010twd.1_Missense_Mutation_p.E256Q|ZC3H14_uc010twe.1_Missense_Mutation_p.E256Q|ZC3H14_uc001xwx.2_Missense_Mutation_p.E256Q|ZC3H14_uc010twf.1_Missense_Mutation_p.E101Q|ZC3H14_uc001xwy.2_Missense_Mutation_p.E222Q|ZC3H14_uc010twg.1_Missense_Mutation_p.E101Q|ZC3H14_uc001xxa.2_5'Flank NM_024824 NP_079100 Q6PJT7 ZC3HE_HUMAN zinc finger CCCH-type containing 14 isoform 1 256 cytoplasm|cytoplasm|nuclear speck protein binding|RNA binding|zinc ion binding ovary(2)|skin(1) 3 TTGGGTATATGAAACAGGACG 0.408 NaN 0 0 0 0.004289 0 39 102 TTC7B 145567 broad.mit.edu 37 14 91196427 91196427 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr14:91196427G>A uc001xyp.2 - 5 812 c.690C>T c.(688-690)TTC>TTT p.F230F NM_001010854 NP_001010854 Q86TV6 TTC7B_HUMAN tetratricopeptide repeat domain 7B 230 TPR 2. binding ovary(2) 2 Melanoma(154;0.222) ACCCATTTTTGAAATAGAGGA 0.388 NaN 0 0 0 0.01441 0 51 127 CCDC88C 440193 broad.mit.edu 37 14 91791126 91791126 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr14:91791126C>T uc010aty.2 - 12 1438 c.1339G>A c.(1339-1341)GAC>AAC p.D447N NM_001080414 NP_001073883 Q9P219 DAPLE_HUMAN DVL-binding protein DAPLE 447 microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway cytoplasm|insoluble fraction microtubule binding|PDZ domain binding|protein self-association ovary(3) 3 all_cancers(154;0.0468) TACCTACCGTCTGACAAGTCT 0.602 NaN 0 0 0 0.004482 0 9 20 CCDC88C 440193 broad.mit.edu 37 14 91791156 91791156 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr14:91791156C>G uc010aty.2 - 12 1408 c.1309G>C c.(1309-1311)GAG>CAG p.E437Q NM_001080414 NP_001073883 Q9P219 DAPLE_HUMAN DVL-binding protein DAPLE 437 microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway cytoplasm|insoluble fraction microtubule binding|PDZ domain binding|protein self-association ovary(3) 3 all_cancers(154;0.0468) GACAGCTGCTCCAGCTCCCAG 0.587 NaN 0 0 0 0.013537 0 11 36 CATSPERB 79820 broad.mit.edu 37 14 92084066 92084066 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr14:92084066C>T uc001xzs.1 - 20 2415 c.2275G>A c.(2275-2277)GAA>AAA p.E759K CATSPERB_uc010aub.1_Missense_Mutation_p.E281K NM_024764 NP_079040 Q9H7T0 CTSRB_HUMAN cation channel, sperm-associated, beta 759 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane breast(2)|skin(2)|ovary(1) 5 all_cancers(154;0.0663)|all_epithelial(191;0.236) AGTGGTATTTCAAGCATTCGA 0.313 NaN 0 0 0 0.009535 0 28 33 OTUB2 78990 broad.mit.edu 37 14 94512231 94512231 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr14:94512231C>T uc001yci.2 + 6 828 c.668C>T c.(667-669)TCC>TTC p.S223F NM_023112 NP_075601 Q96DC9 OTUB2_HUMAN OTU domain, ubiquitin aldehyde binding 2 223 OTU. cellular amino acid metabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination omega peptidase activity|protein binding|ubiquitin-specific protease activity 0 all_cancers(154;0.12) Epithelial(152;0.124)|all cancers(159;0.21)|COAD - Colon adenocarcinoma(157;0.215) TATAAAACATCCCACTACAAC 0.498 NaN 0 0 0 0.004482 0 8 19 VRK1 7443 broad.mit.edu 37 14 97313665 97313665 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr14:97313665G>A uc001yft.2 + 5 464 c.358G>A c.(358-360)GAC>AAC p.D120N NM_003384 NP_003375 Q99986 VRK1_HUMAN vaccinia related kinase 1 120 Protein kinase. cytoplasm|nucleolus ATP binding|protein binding|protein serine/threonine kinase activity large_intestine(1)|stomach(1) 2 Melanoma(154;0.155) COAD - Colon adenocarcinoma(157;0.234) TGGTCTACATGACAAAAATGG 0.348 NaN 0 0 0 0.001855 0 13 36 CYP46A1 10858 broad.mit.edu 37 14 100192565 100192565 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr14:100192565G>A uc001ygo.2 + 14 1304 c.1304G>A c.(1303-1305)CGC>CAC p.R435H CYP46A1_uc001ygp.2_Missense_Mutation_p.R272H NM_006668 NP_006659 Q9Y6A2 CP46A_HUMAN cytochrome P450, family 46 435 bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity 0 Melanoma(154;0.0866)|all_epithelial(191;0.179) CTGGGCCACCGCTCCTGCATC 0.642 NaN 0 0 0 0.00245 0 15 31 BEGAIN 57596 broad.mit.edu 37 14 101012852 101012852 + Silent SNP C C G rs150444261 TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr14:101012852C>G uc010txa.1 - 2 308 c.162G>C c.(160-162)ACG>ACC p.T54T BEGAIN_uc001yhp.2_5'UTR|BEGAIN_uc001yhq.2_Silent_p.T54T NM_001159531 NP_001153003 Q9BUH8 BEGIN_HUMAN brain-enriched guanylate kinase-associated 54 cytoplasm|membrane protein binding 0 Melanoma(154;0.212) GCAGCTTCTCCGTGACCTTCT 0.373 NaN 0 0 0 0.001168 0 4 7 DYNC1H1 1778 broad.mit.edu 37 14 102510791 102510791 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr14:102510791G>A uc001yks.2 + 71 13029 c.12865G>A c.(12865-12867)GAC>AAC p.D4289N NM_001376 NP_001367 Q14204 DYHC1_HUMAN cytoplasmic dynein 1 heavy chain 1 4289 cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding ovary(7)|central_nervous_system(2)|pancreas(1) 10 ATGCAAGGTCGACGGACATAA 0.527 NaN 0 0 0 0.008291 0 11 28 TECPR2 9895 broad.mit.edu 37 14 102898163 102898163 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr14:102898163C>T uc001ylw.1 + 8 1263 c.1115C>T c.(1114-1116)TCA>TTA p.S372L TECPR2_uc010awl.2_Missense_Mutation_p.S372L|TECPR2_uc010txx.1_Intron NM_014844 NP_055659 O15040 TCPR2_HUMAN tectonin beta-propeller repeat containing 2 372 protein binding lung(1)|central_nervous_system(1)|skin(1) 3 TCTGGATGCTCAGAGCGTGTC 0.552 NaN 0 0 0 0.00632 0 29 87 TNFAIP2 7127 broad.mit.edu 37 14 103593907 103593907 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr14:103593907C>T uc001ymm.1 + 2 932 c.801C>T c.(799-801)TTC>TTT p.F267F TNFAIP2_uc010awo.1_Intron|TNFAIP2_uc010txz.1_5'UTR NM_006291 NP_006282 Q03169 TNAP2_HUMAN tumor necrosis factor, alpha-induced protein 2 267 angiogenesis|cell differentiation extracellular space central_nervous_system(1) 1 Melanoma(154;0.155) Epithelial(46;0.191) TGGCGCAGTTCGAGCTGTGCG 0.701 NaN 0 0 0 0.004672 0 3 3 MARK3 4140 broad.mit.edu 37 14 103969477 103969477 + Silent SNP G G T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr14:103969477G>T uc001ymz.3 + 18 2841 c.2175G>T c.(2173-2175)CTG>CTT p.L725L MARK3_uc001ymx.3_Silent_p.L716L|MARK3_uc001ymw.3_Silent_p.L701L|MARK3_uc001yna.3_Silent_p.L685L|MARK3_uc001ymy.3_Silent_p.L631L|MARK3_uc010awp.2_Silent_p.L724L|MARK3_uc010tyb.1_Silent_p.L520L|MARK3_uc010awq.2_Silent_p.L298L|MARK3_uc001ynd.2_Silent_p.L133L NM_001128918 NP_001122390 P27448 MARK3_HUMAN MAP/microtubule affinity-regulating kinase 3 725 KA1. ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(2)|ovary(1)|stomach(1) 4 Melanoma(154;0.155) Epithelial(46;0.241) GACTGTCTCTGAACGGGGTCC 0.512 NaN 1 0 3.52763e-06 0.00499 3.61253e-06 15 36 ASPG 374569 broad.mit.edu 37 14 104571063 104571063 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr14:104571063C>T uc001yoq.1 + 9 1101 c.1041C>T c.(1039-1041)GTC>GTT p.V347V ASPG_uc001yoo.1_Silent_p.V375V|ASPG_uc001yop.1_Silent_p.V347V|ASPG_uc001yor.1_Silent_p.V347V NM_001080464 NP_001073933 Q86U10 LPP60_HUMAN 60 kDa lysophospholipase 347 Asparaginase. lipid catabolic process 1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity 0 GCCTGGATGTCAGGAAGGAGG 0.657 NaN 0 0 0 0.013537 0 10 6 AHNAK2 113146 broad.mit.edu 37 14 105408667 105408667 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr14:105408667C>T uc010axc.1 - 7 13241 c.13121G>A c.(13120-13122)GGA>GAA p.G4374E AHNAK2_uc001ypx.2_Missense_Mutation_p.G4274E NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 4374 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) GAGGCCGGCTCCCTCATGCAC 0.587 NaN 0 0 0 0.01441 0 87 63 JAG2 3714 broad.mit.edu 37 14 105618508 105618508 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr14:105618508G>A uc001yqg.2 - 6 1313 c.909C>T c.(907-909)CTC>CTT p.L303L JAG2_uc001yqf.2_5'Flank|JAG2_uc001yqh.2_Silent_p.L303L NM_002226 NP_002217 Q9Y219 JAG2_HUMAN jagged 2 isoform a precursor 303 Extracellular (Potential).|EGF-like 2; atypical. auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection integral to plasma membrane calcium ion binding|growth factor activity|Notch binding lung(3)|breast(2) 5 all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272) Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208) CTTTGTCACAGAGCAGGCCGC 0.637 NaN 0 0 0 0.004289 0 33 34 NIPA2 81614 broad.mit.edu 37 15 23012428 23012428 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr15:23012428G>A uc001yux.2 - 7 912 c.299C>T c.(298-300)TCT>TTT p.S100F NIPA2_uc001yuy.2_Missense_Mutation_p.S100F|NIPA2_uc001yuz.2_Missense_Mutation_p.S100F|NIPA2_uc001yva.2_Missense_Mutation_p.S81F|NIPA2_uc001yvb.2_Missense_Mutation_p.S100F|NIPA2_uc010ayb.2_Missense_Mutation_p.S81F NM_030922 NP_112184 Q8N8Q9 NIPA2_HUMAN non imprinted in Prader-Willi/Angelman syndrome 100 Cytoplasmic (Potential). early endosome|integral to membrane|plasma membrane haematopoietic_and_lymphoid_tissue(1) 1 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353) AAAGTATGAAGAAAGAATGGC 0.318 NaN 0 0 0 0.01441 0 59 101 UBE3A 7337 broad.mit.edu 37 15 25584354 25584354 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr15:25584354G>A uc001zaq.2 - 11 2558 c.2558C>T c.(2557-2559)TCA>TTA p.S853L uc001zae.2_Intron|UBE3A_uc001zar.2_Missense_Mutation_p.S830L|UBE3A_uc001zas.2_Missense_Mutation_p.S850L|UBE3A_uc001zat.2_Missense_Mutation_p.S830L NM_000462 NP_000453 Q05086 UBE3A_HUMAN ubiquitin protein ligase E3A isoform 2 853 HECT. brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus|proteasome complex protein binding|ubiquitin-protein ligase activity upper_aerodigestive_tract(1)|ovary(1)|breast(1) 3 all_cancers(20;3.47e-21)|Breast(32;0.00123) all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616) TTCTTTGCTTGAGTATTCCGG 0.313 NaN 0 0 0 0.00278 0 22 63 GABRA5 2558 broad.mit.edu 37 15 27188493 27188493 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr15:27188493G>C uc001zbd.1 + 11 1348 c.1009G>C c.(1009-1011)GAG>CAG p.E337Q GABRA5_uc001zbe.1_5'Flank NM_000810 NP_000801 P31644 GBRA5_HUMAN gamma-aminobutyric acid A receptor, alpha 5 337 Helical; (Potential). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity ovary(1) 1 all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227) all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) GGCGCTGATAGAGTTTGCCAC 0.542 NaN 0 0 0 0.001168 0 6 9 RYR3 6263 broad.mit.edu 37 15 33941338 33941338 + Silent SNP G G T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr15:33941338G>T uc001zhi.2 + 31 4114 c.4044G>T c.(4042-4044)GTG>GTT p.V1348V RYR3_uc010bar.2_Silent_p.V1348V NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 1348 4 X approximate repeats.|B30.2/SPRY 3.|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) TCGGATGGGTGACTCCAGACT 0.532 NaN 1 0 3.73988e-18 0.00632 3.95109e-18 29 118 PGBD4 161779 broad.mit.edu 37 15 34395021 34395021 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr15:34395021G>A uc001zho.2 + 1 748 c.289G>A c.(289-291)GAT>AAT p.D97N C15orf24_uc001zhm.2_5'Flank|C15orf24_uc001zhn.2_5'Flank NM_152595 NP_689808 Q96DM1 PGBD4_HUMAN piggyBac transposable element derived 4 97 0 all_lung(180;1.76e-08) all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242) CAGAAAAGTCGATGTCAGTGA 0.433 NaN 0 0 0 0.013726 0 36 33 AQR 9716 broad.mit.edu 37 15 35189812 35189812 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr15:35189812C>T uc001ziv.2 - 21 2519 c.2338G>A c.(2338-2340)GAG>AAG p.E780K NM_014691 NP_055506 O60306 AQR_HUMAN aquarius 780 catalytic step 2 spliceosome RNA binding large_intestine(1) 1 Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08) all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283) ACATGGGGCTCAACAATTAAG 0.368 NaN 0 0 0 0.012319 0 22 91 AQR 9716 broad.mit.edu 37 15 35230975 35230975 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr15:35230975C>T uc001ziv.2 - 9 862 c.681G>A c.(679-681)CAG>CAA p.Q227Q NM_014691 NP_055506 O60306 AQR_HUMAN aquarius 227 catalytic step 2 spliceosome RNA binding large_intestine(1) 1 Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08) all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283) AGATAAACTTCTGGATGAGTT 0.338 NaN 0 0 0 0.004007 0 17 119 C15orf54 400360 broad.mit.edu 37 15 39544580 39544580 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr15:39544580C>G uc001zkg.2 + 2 612 c.244C>G c.(244-246)CAA>GAA p.Q82E NM_207445 NP_997328 Q8N8G6 CO054_HUMAN hypothetical protein LOC400360 82 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) GACATCACATCAAATCATCCA 0.448 NaN 0 0 0 0.005524 0 40 150 BMF 90427 broad.mit.edu 37 15 40396422 40396422 + Nonsense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr15:40396422G>A uc001zkv.2 - 3 498 c.412C>T c.(412-414)CAG>TAG p.Q138* BMF_uc001zkt.2_Intron|BMF_uc001zku.2_Intron|BMF_uc001zkw.2_Nonsense_Mutation_p.Q138* NM_033503 NP_277038 Q96LC9 BMF_HUMAN Bcl2 modifying factor isoform bmf-1 138 BH3. activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria cytosol|mitochondrial outer membrane|myosin complex|plasma membrane protein binding ovary(1) 1 all_cancers(109;4.18e-18)|all_epithelial(112;6.15e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0516) GCAATGCACTGAAGCTTTCGG 0.612 NaN 0 0 0 0.01441 0 84 90 BUB1B 701 broad.mit.edu 37 15 40505608 40505608 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr15:40505608G>A uc001zkx.3 + 20 2823 c.2611G>A c.(2611-2613)GAG>AAG p.E871K NM_001211 NP_001202 O60566 BUB1B_HUMAN budding uninhibited by benzimidazoles 1 beta 871 Protein kinase. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone ATP binding|protein binding|protein serine/threonine kinase activity stomach(2)|ovary(1)|kidney(1) 4 all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556) GACAATAGTGGAGATGCTACA 0.378 NaN Mis|N|F|S rhabdomyosarcoma Mosaic_Variegated_Aneuploidy_Syndrome 0 0 0 0.005443 0 28 74 CHST14 113189 broad.mit.edu 37 15 40763862 40763862 + Silent SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr15:40763862C>G uc001zlw.2 + 1 650 c.450C>G c.(448-450)CTC>CTG p.L150L NM_130468 NP_569735 Q8NCH0 CHSTE_HUMAN dermatan 4 sulfotransferase 1 150 Lumenal (Potential). carbohydrate biosynthetic process|dermatan sulfate proteoglycan metabolic process Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity|phosphate binding 0 all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781) ACCGCTTCCTCTACTGCTACG 0.662 NaN 0 0 0 0.00499 0 17 36 CHST14 113189 broad.mit.edu 37 15 40764104 40764104 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr15:40764104G>A uc001zlw.2 + 1 892 c.692G>A c.(691-693)CGA>CAA p.R231Q NM_130468 NP_569735 Q8NCH0 CHSTE_HUMAN dermatan 4 sulfotransferase 1 231 Lumenal (Potential). carbohydrate biosynthetic process|dermatan sulfate proteoglycan metabolic process Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity|phosphate binding 0 all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781) GGCGAGATCCGAGAGTACCAG 0.597 NaN 0 0 0 0.01441 0 42 95 TYRO3 7301 broad.mit.edu 37 15 41865267 41865267 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr15:41865267C>T uc001zof.1 + 16 2167 c.1943C>T c.(1942-1944)TCT>TTT p.S648F NM_006293 NP_006284 Q06418 TYRO3_HUMAN TYRO3 protein tyrosine kinase precursor 648 Protein kinase.|Cytoplasmic (Potential). integral to plasma membrane ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity ovary(3)|lung(2)|central_nervous_system(1) 6 all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117) TACCTGAGCTCTCGGAACTTC 0.572 NaN 0 0 0 0.011902 0 43 37 UBR1 197131 broad.mit.edu 37 15 43307928 43307928 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr15:43307928G>A uc001zqq.2 - 29 3233 c.3167C>T c.(3166-3168)TCA>TTA p.S1056L UBR1_uc010udk.1_Missense_Mutation_p.S1056L NM_174916 NP_777576 Q8IWV7 UBR1_HUMAN ubiquitin protein ligase E3 component n-recognin 1056 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) AGGCATTTCTGATGTATTGTC 0.343 NaN 0 0 0 0.01441 0 57 189 TMEM62 80021 broad.mit.edu 37 15 43476562 43476562 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr15:43476562G>A uc001zqr.2 + 14 1989 c.1710G>A c.(1708-1710)TTG>TTA p.L570L TMEM62_uc010bda.2_Silent_p.L405L|TMEM62_uc001zqt.2_Silent_p.L139L|CCNDBP1_uc001zqu.2_5'Flank|CCNDBP1_uc001zqv.2_5'Flank|CCNDBP1_uc010bdc.2_5'Flank|CCNDBP1_uc010bdb.2_5'Flank|CCNDBP1_uc010udl.1_5'Flank|CCNDBP1_uc001zqw.2_5'Flank|CCNDBP1_uc001zqx.2_5'Flank|CCNDBP1_uc010bdd.2_5'Flank|CCNDBP1_uc001zqy.2_5'Flank NM_024956 NP_079232 Q0P6H9 TMM62_HUMAN transmembrane protein 62 570 integral to membrane ovary(1)|breast(1) 2 all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;4.23e-07) GAAAATACTTGAAAATTATGC 0.418 NaN 0 0 0 0.01441 0 146 156 EPB42 2038 broad.mit.edu 37 15 43489643 43489643 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr15:43489643C>T uc001zra.3 - 13 2233 c.1933G>A c.(1933-1935)GAA>AAA p.E645K EPB42_uc001zqz.3_Missense_Mutation_p.E312K|EPB42_uc010bde.2_Silent_p.*436*|EPB42_uc001zrb.3_Missense_Mutation_p.E675K|EPB42_uc010udm.1_Missense_Mutation_p.E567K NM_001114134 NP_001107606 P16452 EPB42_HUMAN erythrocyte membrane protein band 4.2 isoform 2 645 erythrocyte maturation|peptide cross-linking|regulation of cell shape cytoplasm|cytoskeleton|plasma membrane ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton ovary(2) 2 all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.7e-07) ATGGTGTTTTCAGGCCACACT 0.498 NaN 0 0 0 0.013726 0 32 41 DUOX2 50506 broad.mit.edu 37 15 45386349 45386349 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr15:45386349C>T uc010bea.2 - 34 4849 c.4646G>A c.(4645-4647)TGA>TAA p.*1549* DUOX2_uc001zun.2_Silent_p.*1549* NM_014080 NP_054799 Q9NRD8 DUOX2_HUMAN dual oxidase 2 precursor 1549 cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity ovary(2)|skin(2)|pancreas(1) 5 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) AGGACAGGCTCAGAAGTTCTC 0.557 NaN 0 0 0 0.010729 0 10 43 DUOX1 53905 broad.mit.edu 37 15 45445633 45445633 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr15:45445633C>T uc001zus.1 + 27 3826 c.3480C>T c.(3478-3480)CTC>CTT p.L1160L DUOX1_uc001zut.1_Silent_p.L1160L|DUOX1_uc010bee.1_Silent_p.L540L NM_017434 NP_059130 Q9NRD9 DUOX1_HUMAN dual oxidase 1 precursor 1160 Helical; (Potential).|Interaction with TXNDC11 (By similarity).|Ferric oxidoreductase. cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity ovary(5)|skin(2)|breast(1) 8 all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717) TCAGCCCCCTCAGCGTCCTCT 0.438 NaN 0 0 0 0.009535 0 29 101 SHF 90525 broad.mit.edu 37 15 45460156 45460156 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr15:45460156G>C uc001zuy.2 - 8 1756 c.1261C>G c.(1261-1263)CGG>GGG p.R421G SHF_uc010uen.1_Missense_Mutation_p.R237G|SHF_uc010ueo.1_Missense_Mutation_p.R237G|SHF_uc010uep.1_3'UTR|SHF_uc010ueq.1_Missense_Mutation_p.R197G|SHF_uc010uer.1_3'UTR NM_138356 NP_612365 Q7M4L6 SHF_HUMAN Src homology 2 domain containing F Error:Variant_position_missing_in_B3KTY1_after_alignment ovary(1) 1 all_cancers(109;8.13e-11)|all_epithelial(112;6.29e-09)|Lung NSC(122;3.57e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;4.1e-16)|GBM - Glioblastoma multiforme(94;5.98e-06) TAAAGAGTCCGGATGGCCACA 0.587 NaN OREG0023104 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.001855 0 12 29 SHC4 399694 broad.mit.edu 37 15 49176534 49176534 + Missense_Mutation SNP C C A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr15:49176534C>A uc001zxb.1 - 4 1180 c.751G>T c.(751-753)GGC>TGC p.G251C NM_203349 NP_976224 Q6S5L8 SHC4_HUMAN rai-like protein 251 PID. intracellular signal transduction cell junction|postsynaptic membrane ovary(3)|pancreas(2) 5 all_lung(180;0.00466) all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07) TTACTTTTGCCAAGGACTGTT 0.318 NaN 1 0 6.72482e-11 0.003163 7.01243e-11 15 50 LEO1 123169 broad.mit.edu 37 15 52250986 52250986 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr15:52250986C>G uc002abo.2 - 6 1214 c.1198G>C c.(1198-1200)GAT>CAT p.D400H LEO1_uc010bfd.2_Intron NM_138792 NP_620147 Q8WVC0 LEO1_HUMAN Leo1, Paf1/RNA polymerase II complex component, 400 histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent Cdc73/Paf1 complex protein binding 0 all cancers(107;0.00264) ATTTCTTCATCTTCAAATTCA 0.274 NaN 0 0 0 0.014323 0 22 65 GNB5 10681 broad.mit.edu 37 15 52416747 52416747 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr15:52416747C>T uc002abt.1 - 12 1164 c.1099G>A c.(1099-1101)GAA>AAA p.E367K GNB5_uc002abr.1_Missense_Mutation_p.E325K|GNB5_uc002abs.1_Missense_Mutation_p.E255K NM_016194 NP_057278 O14775 GBB5_HUMAN guanine nucleotide-binding protein, beta-5 367 WD 7. heterotrimeric G-protein complex GTPase activity|signal transducer activity lung(1) 1 all cancers(107;0.0163) ACGCGGTTTTCATGTCCAAAC 0.498 NaN 0 0 0 0.006122 0 18 56 TEX9 374618 broad.mit.edu 37 15 56665652 56665652 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr15:56665652G>C uc002adp.2 + 3 138 c.133G>C c.(133-135)GAA>CAA p.E45Q TEX9_uc002ado.1_Missense_Mutation_p.E45Q|TEX9_uc010ugl.1_5'UTR|TEX9_uc002adq.1_5'UTR NM_198524 NP_940926 Q8N6V9 TEX9_HUMAN testis expressed 9 45 0 all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056) TTTAAATGCAGAATTGCAGGC 0.284 NaN 0 0 0 0.00245 0 13 24 TCF12 6938 broad.mit.edu 37 15 57565345 57565345 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr15:57565345C>T uc002aec.2 + 18 2075 c.1791C>T c.(1789-1791)TTC>TTT p.F597F TCF12_uc010ugm.1_Silent_p.F649F|TCF12_uc010ugn.1_Silent_p.F617F|TCF12_uc002aea.2_Silent_p.F621F|TCF12_uc010bfs.2_Silent_p.F18F|TCF12_uc002aeb.2_Silent_p.F621F|TCF12_uc002aed.2_Silent_p.F597F|TCF12_uc002aee.2_Silent_p.F427F|TCF12_uc010bft.2_Silent_p.F451F|TCF12_uc010ugo.1_Silent_p.F361F|TCF12_uc010ugp.1_Silent_p.F254F|TCF12_uc010ugq.1_Silent_p.F231F|TCF12_uc010ugr.1_Silent_p.F210F NM_207038 NP_996921 Q99081 HTF4_HUMAN transcription factor 12 isoform b 597 Helix-loop-helix motif. immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(5)|ovary(2)|lung(1) 8 Colorectal(260;0.0907) all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239) ATGAAGCATTCAAAGAGCTTG 0.458 NaN T TEC extraskeletal myxoid chondrosarcoma 0 0 0 0.004007 0 17 57 ADAM10 102 broad.mit.edu 37 15 58904123 58904123 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr15:58904123C>T uc002afd.1 - 12 2023 c.1579G>A c.(1579-1581)GAT>AAT p.D527N ADAM10_uc010bgc.1_RNA|ADAM10_uc010ugz.1_Missense_Mutation_p.D226N|ADAM10_uc002afe.1_Intron|ADAM10_uc002aff.1_Missense_Mutation_p.D64N NM_001110 NP_001101 O14672 ADA10_HUMAN ADAM metallopeptidase domain 10 precursor 527 Extracellular (Potential).|Disintegrin. cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding skin(2) 2 GBM - Glioblastoma multiforme(80;0.202) CAGTCTGAATCATCCCGACAC 0.428 NaN 0 0 0 0.00333 0 23 57 GTF2A2 2958 broad.mit.edu 37 15 59942969 59942969 + Nonsense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr15:59942969G>A uc002agg.2 - 3 258 c.76C>T c.(76-78)CAA>TAA p.Q26* NM_004492 NP_004483 P52657 T2AG_HUMAN general transcription factor IIA, 2, 12kDa 26 interspecies interaction between organisms|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction transcription factor TFIIA complex protein heterodimerization activity|protein homodimerization activity|TBP-class protein binding|transcription coactivator activity central_nervous_system(2) 2 GTGATCTGTTGAGACTGAGAA 0.368 NaN 0 0 0 0.004656 0 26 33 USP3 9960 broad.mit.edu 37 15 63850344 63850344 + Missense_Mutation SNP T T G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr15:63850344T>G uc002amf.2 + 6 619 c.490T>G c.(490-492)TTG>GTG p.L164V USP3_uc010uii.1_Intron|USP3_uc002amg.2_Missense_Mutation_p.L79V|USP3_uc002amh.2_Missense_Mutation_p.L142V|USP3_uc010uij.1_Missense_Mutation_p.L120V|USP3_uc010uik.1_Intron|USP3_uc010bgs.2_Missense_Mutation_p.L147V|USP3_uc002ami.2_Translation_Start_Site NM_006537 NP_006528 Q9Y6I4 UBP3_HUMAN ubiquitin thiolesterase 3 164 DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process nuclear chromatin histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding lung(1) 1 GBM - Glioblastoma multiforme(80;0.0187) CCTTCGGAATTTGGGGAACAC 0.428 NaN 0 0 0 0.010818 0 31 30 HERC1 8925 broad.mit.edu 37 15 64005075 64005075 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr15:64005075C>G uc002amp.2 - 24 4631 c.4483G>C c.(4483-4485)GAG>CAG p.E1495Q HERC1_uc010uil.1_Missense_Mutation_p.E479Q NM_003922 NP_003913 Q15751 HERC1_HUMAN hect domain and RCC1-like domain 1 1495 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 AGCCGGCTCTCTGCAGTAAGA 0.398 NaN 0 0 0 0.00308 0 8 19 HERC1 8925 broad.mit.edu 37 15 64005081 64005081 + Missense_Mutation SNP T T G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr15:64005081T>G uc002amp.2 - 24 4625 c.4477A>C c.(4477-4479)ACT>CCT p.T1493P HERC1_uc010uil.1_Missense_Mutation_p.T477P NM_003922 NP_003913 Q15751 HERC1_HUMAN hect domain and RCC1-like domain 1 1493 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 CTCTCTGCAGTAAGACTTTCA 0.383 NaN 0 0 0 0.008291 0 10 13 HERC1 8925 broad.mit.edu 37 15 64017671 64017671 + Nonsense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr15:64017671G>A uc002amp.2 - 18 3536 c.3388C>T c.(3388-3390)CAG>TAG p.Q1130* HERC1_uc010uil.1_Intron NM_003922 NP_003913 Q15751 HERC1_HUMAN hect domain and RCC1-like domain 1 1130 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 TGAGCTGGCTGAGGTAATGGC 0.448 NaN 0 0 0 0.006122 0 14 58 DAPK2 23604 broad.mit.edu 37 15 64332447 64332447 + Nonsense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr15:64332447G>C uc002amr.2 - 2 45 c.14C>G c.(13-15)TCA>TGA p.S5* DAPK2_uc010uim.1_RNA|DAPK2_uc010bgu.1_5'UTR NM_014326 NP_055141 Q9UIK4 DAPK2_HUMAN death-associated kinase 2 5 apoptosis|induction of apoptosis|intracellular protein kinase cascade cytoplasm ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding stomach(1)|central_nervous_system(1) 2 LUAD - Lung adenocarcinoma(2;0.215) ACTCCTCATTGAGGCCTGGAA 0.488 NaN 0 0 0 0.007413 0 20 95 SNX22 79856 broad.mit.edu 37 15 64445458 64445458 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr15:64445458G>A uc002anc.1 + 4 338 c.279G>A c.(277-279)CTG>CTA p.L93L SNX22_uc002amz.1_Silent_p.L65L|SNX22_uc002ana.1_3'UTR|SNX22_uc002anb.1_RNA NM_024798 NP_079074 Q96L94 SNX22_HUMAN sorting nexin 22 93 PX. cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding 0 TCCTGTACCTGAACCAGGAGG 0.423 NaN 0 0 0 0.011902 0 43 29 IGDCC3 9543 broad.mit.edu 37 15 65622908 65622908 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr15:65622908G>A uc002aos.2 - 10 1985 c.1733C>T c.(1732-1734)TCC>TTC p.S578F IGDCC3_uc002aor.1_5'Flank NM_004884 NP_004875 Q8IVU1 IGDC3_HUMAN putative neuronal cell adhesion molecule 578 Extracellular (Potential).|Fibronectin type-III 2. ovary(3) 3 GAGGTTGTAGGAGGAGACGGT 0.667 NaN 0 0 0 0.003954 0 25 36 C15orf44 81556 broad.mit.edu 37 15 65890802 65890802 + Splice_Site SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr15:65890802C>T uc002apd.2 - 6 942 c.606_splice c.e6-1 p.G202_splice C15orf44_uc010uix.1_Splice_Site_p.G238_splice|C15orf44_uc010uiz.1_Splice_Site_p.G166_splice|C15orf44_uc010uja.1_Splice_Site_p.G153_splice|C15orf44_uc010ujb.1_Splice_Site_p.G123_splice|C15orf44_uc002ape.3_Splice_Site_p.G202_splice|C15orf44_uc010uiy.1_Splice_Site_p.G123_splice NM_030800 NP_110427 Q96SY0 CO044_HUMAN hypothetical protein LOC81556 isoform 2 ovary(1) 1 TATCAGTTTTCTAGAATATGA 0.378 NaN 0 0 0 0.006214 0 10 35 SMAD3 4088 broad.mit.edu 37 15 67473685 67473685 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr15:67473685G>A uc002aqj.2 + 6 1063 c.765G>A c.(763-765)ATG>ATA p.M255I SMAD3_uc010ujr.1_Missense_Mutation_p.M150I|SMAD3_uc010ujs.1_Missense_Mutation_p.M211I|SMAD3_uc010ujt.1_Missense_Mutation_p.M60I NM_005902 NP_005893 P84022 SMAD3_HUMAN mothers against decapentaplegic homolog 3 255 MH2. activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing cytosol|nuclear inner membrane|receptor complex beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding large_intestine(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1) 5 Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125) AGCCATCCATGACTGTGGATG 0.597 NaN 0 0 0 0.004482 0 7 22 AAGAB 79719 broad.mit.edu 37 15 67495178 67495178 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr15:67495178G>A uc002aqk.3 - 10 1034 c.929C>T c.(928-930)TCA>TTA p.S310L AAGAB_uc002aql.2_Missense_Mutation_p.S201L|AAGAB_uc010uju.1_Missense_Mutation_p.S201L NM_024666 NP_078942 Q6PD74 AAGAB_HUMAN alpha- and gamma-adaptin-binding protein p34 310 protein transport cytoplasm 0 TTCATCAGATGAAAGGCCTTC 0.448 NaN 0 0 0 0.004007 0 13 46 ANP32A 8125 broad.mit.edu 37 15 69080226 69080226 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr15:69080226C>T uc002arl.2 - 2 258 c.87G>A c.(85-87)TCG>TCA p.S29S NM_006305 NP_006296 P39687 AN32A_HUMAN acidic (leucine-rich) nuclear phosphoprotein 32 29 LRR 1. intracellular signal transduction|mRNA metabolic process|nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm protein binding 0 TGCCTTCATTCGACCGACTGT 0.502 NaN 0 0 0 0.007835 0 37 112 NOX5 79400 broad.mit.edu 37 15 69327705 69327705 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr15:69327705C>T uc002ars.1 + 6 887 c.867C>T c.(865-867)CTC>CTT p.L289L NOX5_uc002arp.1_Silent_p.L271L|NOX5_uc002arq.1_Silent_p.L243L|NOX5_uc010bid.1_Silent_p.L254L|NOX5_uc002arr.1_Silent_p.L261L|NOX5_uc010bie.1_Silent_p.L89L|NOX5_uc010bif.1_RNA NM_024505 NP_078781 Q96PH1 NOX5_HUMAN NADPH oxidase, EF-hand calcium binding domain 5 289 Helical; (Potential). angiogenesis|angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation endoplasmic reticulum|endoplasmic reticulum|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity breast(1)|pancreas(1) 2 TGCTGATGCTCAGACGCTGCC 0.612 NaN 0 0 0 0.001984 0 5 16 KIF23 9493 broad.mit.edu 37 15 69721528 69721528 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr15:69721528G>A uc002asb.2 + 10 1165 c.1048G>A c.(1048-1050)GAA>AAA p.E350K KIF23_uc002asc.2_Missense_Mutation_p.E350K|KIF23_uc010bii.2_Missense_Mutation_p.E240K|KIF23_uc010ukc.1_Missense_Mutation_p.E167K|KIF23_uc010bih.1_RNA NM_138555 NP_612565 Q02241 KIF23_HUMAN kinesin family member 23 isoform 1 350 Kinesin-motor. blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle ATP binding|microtubule motor activity|protein binding 0 GACCAGAGCAGAAGGGAACAG 0.368 NaN 0 0 0 0.008291 0 11 4 MYO9A 4649 broad.mit.edu 37 15 72338155 72338155 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr15:72338155G>C uc002atl.3 - 2 1223 c.750C>G c.(748-750)AAC>AAG p.N250K MYO9A_uc010biq.2_Intron|MYO9A_uc002ato.2_Missense_Mutation_p.N250K|MYO9A_uc002atn.1_Missense_Mutation_p.N250K NM_006901 NP_008832 B2RTY4 MYO9A_HUMAN myosin IXA 250 Myosin head-like 1. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity ovary(1)|pancreas(1)|skin(1) 3 GAATAAGAAAGTTTGTGCTTT 0.433 NaN 0 0 0 0.012319 0 21 71 PKM2 5315 broad.mit.edu 37 15 72492911 72492911 + Missense_Mutation SNP G G T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr15:72492911G>T uc002atx.1 - 10 1634 c.1393C>A c.(1393-1395)CTG>ATG p.L465M GRAMD2_uc002atq.2_5'Flank|GRAMD2_uc010bis.2_5'Flank|PKM2_uc002atr.1_Translation_Start_Site|PKM2_uc002ats.1_Missense_Mutation_p.L132M|PKM2_uc002att.1_Missense_Mutation_p.L231M|PKM2_uc002atu.1_Missense_Mutation_p.L231M|PKM2_uc010bit.1_Missense_Mutation_p.L470M|PKM2_uc010uki.1_Missense_Mutation_p.L539M|PKM2_uc002atv.1_Missense_Mutation_p.L500M|PKM2_uc002atw.1_Missense_Mutation_p.L465M|PKM2_uc002aty.1_Missense_Mutation_p.L465M|PKM2_uc010ukj.1_Missense_Mutation_p.L450M|PKM2_uc010ukk.1_Missense_Mutation_p.L391M|PKM2_uc010biu.1_Missense_Mutation_p.L486M NM_182471 NP_872271 P14618 KPYM_HUMAN pyruvate kinase, muscle isoform M1 465 Interaction with POU5F1. glycolysis|programmed cell death cytosol|nucleus|plasma membrane ATP binding|magnesium ion binding|potassium ion binding|protein binding|pyruvate kinase activity breast(1) 1 Pyruvic acid(DB00119) CCACGGTACAGGTGGGCCTGA 0.617 NaN 1 0 1.5842e-08 0.001855 1.63935e-08 14 51 PKM2 5315 broad.mit.edu 37 15 72499149 72499149 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr15:72499149C>T uc002atx.1 - 8 1301 c.1060G>A c.(1060-1062)GAT>AAT p.D354N PKM2_uc002ats.1_Missense_Mutation_p.D21N|PKM2_uc002att.1_Missense_Mutation_p.D120N|PKM2_uc002atu.1_Missense_Mutation_p.D120N|PKM2_uc010bit.1_Missense_Mutation_p.D359N|PKM2_uc010uki.1_Missense_Mutation_p.D428N|PKM2_uc002atv.1_Missense_Mutation_p.D389N|PKM2_uc002atw.1_Missense_Mutation_p.D354N|PKM2_uc002aty.1_Missense_Mutation_p.D354N|PKM2_uc010ukj.1_Missense_Mutation_p.D339N|PKM2_uc010ukk.1_Missense_Mutation_p.D280N|PKM2_uc010biu.1_Missense_Mutation_p.D375N|PKM2_uc002atz.1_RNA NM_182471 NP_872271 P14618 KPYM_HUMAN pyruvate kinase, muscle isoform M1 354 Interaction with POU5F1. glycolysis|programmed cell death cytosol|nucleus|plasma membrane ATP binding|magnesium ion binding|potassium ion binding|protein binding|pyruvate kinase activity breast(1) 1 Pyruvic acid(DB00119) TCGGCTCCATCCAGGACTGCA 0.592 NaN 0 0 0 0.007291 0 27 21 HEXA 3073 broad.mit.edu 37 15 72668266 72668266 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr15:72668266G>A uc002aun.3 - 1 255 c.48C>T c.(46-48)TTC>TTT p.F16F CELF6_uc002auk.3_RNA|HEXA_uc010ukn.1_Silent_p.F16F|HEXA_uc002auo.3_5'UTR|HEXA_uc010bix.2_Silent_p.F16F|HEXA_uc010biy.2_5'UTR|HEXA_uc010uko.1_5'UTR|HEXA_uc010biz.1_RNA|C15orf34_uc010ukp.1_5'Flank NM_000520 NP_000511 P06865 HEXA_HUMAN hexosaminidase A preproprotein 16 cell death lysosome beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity ovary(3)|upper_aerodigestive_tract(1) 4 CCCGTCCTGCGAACGCTGCCG 0.627 NaN 0 0 0 0.009535 0 28 18 ISLR 3671 broad.mit.edu 37 15 74468086 74468086 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr15:74468086C>T uc002axg.1 + 2 1169 c.887C>T c.(886-888)CCT>CTT p.P296L ISLR_uc002axh.1_Missense_Mutation_p.P296L NM_005545 NP_005536 O14498 ISLR_HUMAN immunoglobulin superfamily containing 296 Ig-like. cell adhesion extracellular region large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 CCTGGCACCCCTGTGGCCAGC 0.647 NaN 0 0 0 0.004656 0 22 74 EDC3 80153 broad.mit.edu 37 15 74927761 74927761 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr15:74927761G>A uc002ayn.2 - 9 1669 c.1181C>T c.(1180-1182)TCT>TTT p.S394F EDC3_uc002ayo.2_Missense_Mutation_p.S394F|EDC3_uc002aym.2_Missense_Mutation_p.S394F NM_001142443 NP_001135915 Q96F86 EDC3_HUMAN enhancer of mRNA decapping 3 394 YjeF N-terminal. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol protein binding|RNA binding ovary(1) 1 TTTGAGGCTAGACACTTGTTG 0.532 NaN OREG0023287 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.003755 0 34 29 C15orf17 57184 broad.mit.edu 37 15 75198699 75198699 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr15:75198699G>A uc002azh.3 - 2 543 c.222C>T c.(220-222)CAC>CAT p.H74H C15orf17_uc010bkh.2_5'UTR|C15orf17_uc002azg.2_Silent_p.H74H|C15orf17_uc002azf.2_Silent_p.H74H NM_020447 NP_065180 Q5XKK7 CO017_HUMAN hypothetical protein LOC57184 74 cytochrome-c oxidase activity 0 CCAGGTCCCGGTGCTTCTCTG 0.642 NaN 0 0 0 0.009096 0 4 14 PPCDC 60490 broad.mit.edu 37 15 75335823 75335823 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr15:75335823C>T uc002azo.2 + 3 290 c.177C>T c.(175-177)TTC>TTT p.F59F NM_021823 NP_068595 Q96CD2 COAC_HUMAN phosphopantothenoylcysteine decarboxylase 59 FMN. coenzyme A biosynthetic process|pantothenate metabolic process cytosol phosphopantothenoylcysteine decarboxylase activity 0 CCAAACATTTCTACAGCCCCC 0.562 NaN OREG0023296 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.000602 0 4 12 C15orf39 56905 broad.mit.edu 37 15 75499996 75499996 + Nonsense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr15:75499996C>G uc002azp.3 + 2 1927 c.1607C>G c.(1606-1608)TCA>TGA p.S536* C15orf39_uc002azq.3_Nonsense_Mutation_p.S536*|C15orf39_uc002azr.3_5'Flank NM_015492 NP_056307 Q6ZRI6 CO039_HUMAN hypothetical protein LOC56905 536 0 GAGCCTGACTCAGCCCCAGCC 0.617 NaN 0 0 0 0.004482 0 6 10 SIN3A 25942 broad.mit.edu 37 15 75668090 75668090 + Missense_Mutation SNP G G T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr15:75668090G>T uc002bai.2 - 20 3766 c.3507C>A c.(3505-3507)TTC>TTA p.F1169L SIN3A_uc002baj.2_Missense_Mutation_p.F1169L|SIN3A_uc010uml.1_Missense_Mutation_p.F1169L NM_015477 NP_056292 Q96ST3 SIN3A_HUMAN transcriptional co-repressor Sin3A 1169 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 AATTCAGCTTGAATCTACACT 0.483 NaN 1 0 2.05212e-20 0.005524 2.17013e-20 39 102 SH2D7 646892 broad.mit.edu 37 15 78393321 78393321 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr15:78393321C>T uc010blb.1 + 5 726 c.726C>T c.(724-726)ATC>ATT p.I242I NM_001101404 NP_001094874 A6NKC9 SH2D7_HUMAN SH2 domain containing 7 242 0 GTGACATCATCTATGCAGACC 0.612 NaN 0 0 0 0.007413 0 18 33 ARNT2 9915 broad.mit.edu 37 15 80883951 80883951 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr15:80883951C>T uc002bfr.2 + 18 2127 c.1961C>T c.(1960-1962)TCG>TTG p.S654L ARNT2_uc010unm.1_Missense_Mutation_p.S643L|ARNT2_uc002bfs.2_Missense_Mutation_p.S643L NM_014862 NP_055677 Q9HBZ2 ARNT2_HUMAN aryl hydrocarbon receptor nuclear translocator 654 central nervous system development|in utero embryonic development|response to hypoxia aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity central_nervous_system(3)|ovary(1)|pancreas(1) 5 BRCA - Breast invasive adenocarcinoma(143;0.134) GGGCGGCCCTCGGAAGTCTGG 0.562 NaN 0 0 0 0.007413 0 19 44 MEX3B 84206 broad.mit.edu 37 15 82336488 82336488 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr15:82336488G>A uc002bgq.1 - 2 1038 c.723C>T c.(721-723)TTC>TTT p.F241F NM_032246 NP_115622 Q6ZN04 MEX3B_HUMAN mex-3 homolog B 241 protein autophosphorylation cytoplasmic mRNA processing body|nucleus calcium ion binding|RNA binding|zinc ion binding breast(1)|kidney(1) 2 CGTTGGCGTGGAAGTCGTTCT 0.642 NaN 0 0 0 0.013726 0 31 83 WDR73 84942 broad.mit.edu 37 15 85186742 85186742 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr15:85186742G>A uc002bkw.2 - 8 1112 c.1096C>T c.(1096-1098)CTG>TTG p.L366L WDR73_uc002bkv.2_RNA|WDR73_uc002bkx.2_RNA|uc002bky.1_5'Flank NM_032856 NP_116245 Q6P4I2 WDR73_HUMAN WD repeat domain 73 366 WD 3. 0 CACACATGCAGAGAGGCATCA 0.468 NaN 0 0 0 0.004482 0 9 13 WDR73 84942 broad.mit.edu 37 15 85188819 85188819 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr15:85188819G>A uc002bkw.2 - 7 782 c.766C>T c.(766-768)CGG>TGG p.R256W WDR73_uc002bkv.2_RNA|WDR73_uc002bkx.2_RNA|WDR73_uc010upa.1_3'UTR|uc002bky.1_Missense_Mutation_p.R104Q NM_032856 NP_116245 Q6P4I2 WDR73_HUMAN WD repeat domain 73 256 0 CAGAGATCCCGGGGGTCAAGA 0.617 NaN 0 0 0 0.001984 0 7 9 AKAP13 11214 broad.mit.edu 37 15 86076934 86076934 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr15:86076934C>G uc002blv.1 + 4 471 c.301C>G c.(301-303)CAA>GAA p.Q101E AKAP13_uc002bls.2_Missense_Mutation_p.Q101E|AKAP13_uc002blt.1_Missense_Mutation_p.Q101E|AKAP13_uc002blu.1_Missense_Mutation_p.Q101E NM_007200 NP_009131 Q12802 AKP13_HUMAN A-kinase anchor protein 13 isoform 2 101 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1) 9 TGATGCAGCTCAATTCCTAGC 0.493 NaN 0 0 0 0.010504 0 20 57 AKAP13 11214 broad.mit.edu 37 15 86087153 86087153 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr15:86087153G>A uc002blv.1 + 5 799 c.629G>A c.(628-630)CGA>CAA p.R210Q AKAP13_uc002blt.1_Missense_Mutation_p.R210Q|AKAP13_uc002blu.1_Missense_Mutation_p.R210Q NM_007200 NP_009131 Q12802 AKP13_HUMAN A-kinase anchor protein 13 isoform 2 210 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1) 9 GCCTTGGAGCGAGGCTATCAC 0.582 NaN 0 0 0 0.004482 0 9 45 ISG20 3669 broad.mit.edu 37 15 89182687 89182687 + Silent SNP C C T rs144037981 TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr15:89182687C>T uc002bmv.1 + 2 383 c.90C>T c.(88-90)CTC>CTT p.L30L ISG20_uc002bmu.1_Intron|ISG20_uc002bmw.1_RNA|ISG20_uc010upn.1_RNA NM_002201 NP_002192 Q96AZ6 ISG20_HUMAN interferon stimulated exonuclease 30 cell proliferation|DNA catabolic process, exonucleolytic|response to virus|RNA catabolic process|type I interferon-mediated signaling pathway PML body 3'-5'-exoribonuclease activity|exoribonuclease II activity|metal ion binding|RNA binding|single-stranded DNA specific 3'-5' exodeoxyribonuclease activity 0 Lung NSC(78;0.0554)|all_lung(78;0.103) BRCA - Breast invasive adenocarcinoma(143;0.12) GTTGCAGCCTCGTGAACGTCC 0.647 NaN OREG0023441 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.010729 0 12 18 ACAN 176 broad.mit.edu 37 15 89401276 89401276 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr15:89401276G>A uc010upo.1 + 12 5834 c.5460G>A c.(5458-5460)ACG>ACA p.T1820T ACAN_uc010upp.1_Silent_p.T1820T|ACAN_uc002bna.2_RNA NM_013227 NP_037359 E7EX88 E7EX88_HUMAN aggrecan isoform 2 precursor 1820 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) CTGGTACCACGAGTGGCAGCG 0.522 NaN 0 0 0 0.001168 0 5 26 ACAN 176 broad.mit.edu 37 15 89402471 89402471 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr15:89402471G>A uc010upo.1 + 12 7029 c.6655G>A c.(6655-6657)GAG>AAG p.E2219K ACAN_uc010upp.1_Missense_Mutation_p.E2219K|ACAN_uc002bna.2_RNA NM_013227 NP_037359 E7EX88 E7EX88_HUMAN aggrecan isoform 2 precursor 2219 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) CAGCATCCCAGAGTCTGAGTG 0.572 NaN 0 0 0 0.00499 0 16 27 CRTC3 64784 broad.mit.edu 37 15 91172546 91172546 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr15:91172546C>T uc002bpp.2 + 11 1154 c.1048C>T c.(1048-1050)CCA>TCA p.P350S CRTC3_uc002bpo.2_Missense_Mutation_p.P350S NM_022769 NP_073606 Q6UUV7 CRTC3_HUMAN transducer of regulated CREB protein 3 isoform 350 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus CRTC3/MAML2(26) salivary_gland(26)|ovary(1) 27 Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163) BRCA - Breast invasive adenocarcinoma(143;0.0745) AAATAACCACCCACAGACATC 0.512 NaN T MAML2 salivary gland mucoepidermoid 0 0 0 0.00874 0 42 148 UNC45A 55898 broad.mit.edu 37 15 91488214 91488214 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr15:91488214C>G uc002bqg.2 + 9 1460 c.1120C>G c.(1120-1122)CTC>GTC p.L374V UNC45A_uc002bqd.2_Missense_Mutation_p.L359V NM_018671 NP_061141 Q9H3U1 UN45A_HUMAN smooth muscle cell associated protein-1 isoform 374 cell differentiation|muscle organ development nucleus|perinuclear region of cytoplasm protein binding ovary(2) 2 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) CGCCTCTATTCTCCTCAGCAA 0.498 NaN 0 0 0 0.010729 0 12 66 PRC1 9055 broad.mit.edu 37 15 91517833 91517833 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr15:91517833C>G uc002bqm.2 - 10 1489 c.1332G>C c.(1330-1332)GAG>GAC p.E444D PRC1_uc002bqn.2_Missense_Mutation_p.E444D|PRC1_uc002bqo.2_Missense_Mutation_p.E444D|PRC1_uc010uqs.1_Missense_Mutation_p.E403D NM_003981 NP_003972 O43663 PRC1_HUMAN protein regulator of cytokinesis 1 isoform 1 444 Potential.|Spectrin-fold. cytokinesis|mitotic spindle elongation cytoplasm|nucleus|spindle microtubule|spindle pole protein binding ovary(1)|skin(1) 2 Lung NSC(78;0.0987)|all_lung(78;0.175) GCTTGGCTCTCTCTTTCTCCA 0.463 NaN 0 0 0 0.01441 0 140 127 LINS1 55180 broad.mit.edu 37 15 101115276 101115276 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr15:101115276C>T uc002bwe.2 - 5 838 c.547G>A c.(547-549)GAG>AAG p.E183K LINS1_uc002bwd.2_5'Flank|LINS1_uc002bwf.2_Missense_Mutation_p.E183K|LINS1_uc002bwg.2_Missense_Mutation_p.E183K|LINS1_uc002bwh.2_Missense_Mutation_p.E183K|LINS1_uc010usa.1_Missense_Mutation_p.E64K|LINS1_uc002bwi.2_Missense_Mutation_p.E183K NM_001040614 NP_001035704 Q8NG48 LINES_HUMAN lines homolog 1 183 0 Lung NSC(78;0.0018)|all_lung(78;0.00223)|Melanoma(26;0.00852) OV - Ovarian serous cystadenocarcinoma(32;0.00095)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103) TTATTACTCTCAGAGTATTCA 0.313 NaN 0 0 0 0.008361 0 31 88 CHSY1 22856 broad.mit.edu 37 15 101718244 101718244 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr15:101718244C>T uc002bwt.1 - 4 2241 c.1758G>A c.(1756-1758)CTG>CTA p.L586L CHSY1_uc010usd.1_Silent_p.L314L NM_014918 NP_055733 Q86X52 CHSS1_HUMAN chondroitin sulfate synthase 1 586 Lumenal (Potential). chondroitin sulfate biosynthetic process Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity 0 Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) AATCTCTCATCAGTTCAACTT 0.478 NaN 0 0 0 0.003163 0 16 45 PRR25 388199 broad.mit.edu 37 16 863601 863601 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr16:863601C>G uc010uut.1 + 3 949 c.949C>G c.(949-951)CTG>GTG p.L317V NM_001013638 NP_001013660 Q96S07 PRR25_HUMAN proline rich 25 317 large_intestine(1) 1 TGGCCGGCATCTGGAGACGTC 0.721 NaN 0 0 0 0.004672 0 3 4 TRAF7 84231 broad.mit.edu 37 16 2215900 2215900 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr16:2215900C>T uc002cow.2 + 3 201 c.102C>T c.(100-102)TTC>TTT p.F34F NM_032271 NP_115647 Q6Q0C0 TRAF7_HUMAN TNF receptor-associated factor 7 34 activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex identical protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|lung(1)|breast(1) 3 AAACGACCTTCGGACCCGCCT 0.607 NaN 0 0 0 0.001984 0 6 21 SRRM2 23524 broad.mit.edu 37 16 2812535 2812535 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr16:2812535C>T uc002crk.2 + 11 2555 c.2006C>T c.(2005-2007)TCA>TTA p.S669L SRRM2_uc002crj.1_Missense_Mutation_p.S573L|SRRM2_uc002crl.1_Missense_Mutation_p.S669L|SRRM2_uc010bsu.1_Missense_Mutation_p.S573L NM_016333 NP_057417 Q9UQ35 SRRM2_HUMAN splicing coactivator subunit SRm300 669 Arg-rich.|Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 CGTGGCCGCTCACGCTCTAGA 0.617 NaN 0 0 0 0.010818 0 28 52 SRRM2 23524 broad.mit.edu 37 16 2818133 2818133 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr16:2818133C>G uc002crk.2 + 11 8153 c.7604C>G c.(7603-7605)TCG>TGG p.S2535W SRRM2_uc002crj.1_Missense_Mutation_p.S2439W|SRRM2_uc002crl.1_Missense_Mutation_p.S2535W|SRRM2_uc010bsu.1_Missense_Mutation_p.S2439W NM_016333 NP_057417 Q9UQ35 SRRM2_HUMAN splicing coactivator subunit SRm300 2535 Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 AGTtcctcctcgtcgtcgtcg 0.408 NaN 0 0 0 0.006214 0 6 9 SRRM2 23524 broad.mit.edu 37 16 2819183 2819183 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr16:2819183C>G uc002crk.2 + 12 8468 c.7919C>G c.(7918-7920)TCT>TGT p.S2640C NM_016333 NP_057417 Q9UQ35 SRRM2_HUMAN splicing coactivator subunit SRm300 2640 Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 tcctcctcatcttcctcctcc 0.284 NaN 0 0 0 0.00623 0 41 41 MEFV 4210 broad.mit.edu 37 16 3293307 3293307 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr16:3293307C>G uc002cun.1 - 10 2220 c.2180G>C c.(2179-2181)GGA>GCA p.G727A NM_000243 NP_000234 O15553 MEFV_HUMAN Mediterranean fever protein 727 B30.2/SPRY. inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding central_nervous_system(2)|skin(2)|ovary(1)|lung(1) 6 Colchicine(DB01394) GGAGATGCTTCCAACTCTGTA 0.532 NaN 0 0 0 0.007413 0 20 55 BTBD12 84464 broad.mit.edu 37 16 3640211 3640211 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr16:3640211G>A uc002cvp.2 - 12 4055 c.3428C>T c.(3427-3429)TCC>TTC p.S1143F NM_032444 NP_115820 Q8IY92 SLX4_HUMAN BTB (POZ) domain containing 12 1143 Interaction with PLK1 and TERF2-TERF2IP. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding 0 GTTCAGTTTGGATGAAGATTT 0.448 NaN Direct_reversal_of_damage|Homologous_recombination Fanconi_Anemia 0 0 0 0.01441 0 65 24 BTBD12 84464 broad.mit.edu 37 16 3641190 3641190 + Missense_Mutation SNP C C T rs143730668 TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr16:3641190C>T uc002cvp.2 - 12 3076 c.2449G>A c.(2449-2451)GAA>AAA p.E817K NM_032444 NP_115820 Q8IY92 SLX4_HUMAN BTB (POZ) domain containing 12 817 Potential.|Interaction with PLK1 and TERF2-TERF2IP.|Glu-rich. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding 0 CTCAAGAGTTCCTGGAAATTC 0.498 NaN Direct_reversal_of_damage|Homologous_recombination Fanconi_Anemia OREG0032061 type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET) 0 0 0 0.008361 0 29 82 PMM2 5373 broad.mit.edu 37 16 8941604 8941604 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr16:8941604C>T uc002czf.3 + 8 733 c.663C>T c.(661-663)TTC>TTT p.F221F PMM2_uc010uyf.1_RNA|PMM2_uc010uyg.1_Silent_p.F138F|PMM2_uc010uyh.1_Silent_p.F96F|PMM2_uc010buj.2_RNA|PMM2_uc010uyi.1_Silent_p.F74F|PMM2_uc002czg.1_5'Flank NM_000303 NP_000294 O15305 PMM2_HUMAN phosphomannomutase 2 221 dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine cytosol phosphomannomutase activity ovary(1) 1 ATGAGATCTTCACAGACCCCA 0.597 NaN 0 0 0 0.004289 0 36 17 USP7 7874 broad.mit.edu 37 16 9009183 9009183 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr16:9009183C>T uc002czl.2 - 10 1205 c.1006G>A c.(1006-1008)GAA>AAA p.E336K USP7_uc010uyk.1_Missense_Mutation_p.E237K|USP7_uc010uyj.1_Missense_Mutation_p.E237K|USP7_uc002czk.2_Missense_Mutation_p.E320K|USP7_uc010uyl.1_RNA NM_003470 NP_003461 Q93009 UBP7_HUMAN ubiquitin specific peptidase 7 336 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 TAGTCTACTTCTTTACACTGG 0.299 NaN 0 0 0 0.01441 0 45 32 TXNDC11 51061 broad.mit.edu 37 16 11792135 11792135 + Missense_Mutation SNP T T G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr16:11792135T>G uc010buu.1 - 8 1096 c.1034A>C c.(1033-1035)AAG>ACG p.K345T TXNDC11_uc002dbg.1_Missense_Mutation_p.K318T NM_015914 NP_056998 Q6PKC3 TXD11_HUMAN thioredoxin domain containing 11 345 cell redox homeostasis endoplasmic reticulum membrane|integral to membrane 0 TAAGGCCCACTTACAGATGTT 0.557 NaN 0 0 0 0.004878 0 36 16 RSL1D1 26156 broad.mit.edu 37 16 11933795 11933795 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr16:11933795C>G uc002dbp.1 - 8 976 c.903G>C c.(901-903)GAG>GAC p.E301D RSL1D1_uc010buv.1_Missense_Mutation_p.E300D|RSL1D1_uc010uyw.1_Missense_Mutation_p.E81D|RSL1D1_uc010buw.2_RNA NM_015659 NP_056474 O76021 RL1D1_HUMAN ribosomal L1 domain containing 1 301 Potential. regulation of protein localization|translation large ribosomal subunit|nucleolus protein binding|RNA binding|structural constituent of ribosome 0 tcttcttcctctccttttgtt 0.254 NaN 0 0 0 0.003755 0 38 65 MYH11 4629 broad.mit.edu 37 16 15841995 15841995 + Nonsense_Mutation SNP C C A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr16:15841995C>A uc002ddy.2 - 17 2196 c.2089G>T c.(2089-2091)GAG>TAG p.E697* MYH11_uc002ddv.2_Nonsense_Mutation_p.E704*|MYH11_uc002ddw.2_Nonsense_Mutation_p.E697*|MYH11_uc002ddx.2_Nonsense_Mutation_p.E704*|MYH11_uc010bvg.2_Nonsense_Mutation_p.E529* NM_002474 NP_002465 P35749 MYH11_HUMAN smooth muscle myosin heavy chain 11 isoform 697 Myosin head-like. 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 CGCAGCTGCTCCAGCACCAGG 0.622 NaN T CBFB AML 1 0 1.22574e-08 0.014323 1.26901e-08 20 8 ABCC1 4363 broad.mit.edu 37 16 16215927 16215927 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr16:16215927C>T uc010bvi.2 + 24 3661 c.3486C>T c.(3484-3486)GTC>GTT p.V1162V ABCC1_uc010bvj.2_Silent_p.V1103V|ABCC1_uc010bvk.2_Silent_p.V1106V|ABCC1_uc010bvl.2_Silent_p.V1162V|ABCC1_uc010bvm.2_Silent_p.V1047V|ABCC1_uc002del.3_Silent_p.V1056V NM_004996 NP_004987 P33527 MRP1_HUMAN ATP-binding cassette, sub-family C, member 1 1162 Cytoplasmic.|ABC transmembrane type-1 2. 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) TGCTGGGGGTCAGCGTCATTC 0.607 NaN 0 0 0 0.013537 0 13 50 TMC7 79905 broad.mit.edu 37 16 19041668 19041668 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr16:19041668G>A uc002dfq.2 + 6 964 c.834G>A c.(832-834)CTG>CTA p.L278L TMC7_uc010vao.1_Silent_p.L278L|TMC7_uc002dfp.2_Silent_p.L278L|TMC7_uc010vap.1_Silent_p.L168L NM_024847 NP_079123 Q7Z402 TMC7_HUMAN transmembrane channel-like 7 isoform a 278 Helical; (Potential). integral to membrane skin(2)|ovary(1) 3 CCCTGGCCCTGAGCCTTCTTT 0.473 NaN 0 0 0 0.01441 0 53 56 LOC81691 81691 broad.mit.edu 37 16 20835811 20835811 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr16:20835811G>A uc002dhv.2 + 7 930 c.667G>A c.(667-669)GCA>ACA p.A223T ERI2_uc002dht.3_Intron|LOC81691_uc002dhx.2_Missense_Mutation_p.A223T|LOC81691_uc002dhw.2_Intron|LOC81691_uc002dhy.3_Missense_Mutation_p.A223T NM_030941 NP_112203 Q96IC2 REXON_HUMAN exonuclease NEF-sp isoform 1 223 nucleolus exonuclease activity|nucleotide binding|RNA binding ovary(1)|kidney(1) 2 TGGTTCTATAGCAGACAATAG 0.348 NaN 0 0 0 0.008291 0 10 68 DNAH3 55567 broad.mit.edu 37 16 21170741 21170741 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr16:21170741C>T uc010vbe.1 - 1 22 c.22G>A c.(22-24)GAG>AAG p.E8K TMEM159_uc002dif.3_Intron|TMEM159_uc002dig.3_Intron|TMEM159_uc010vbf.1_Intron|TMEM159_uc002dih.3_Intron NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 8 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) AGTGTGAGCTCGAGGCGCCCT 0.627 NaN 0 0 0 0.01441 0 44 38 ZP2 7783 broad.mit.edu 37 16 21214522 21214522 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr16:21214522C>T uc002dii.2 - 10 1023 c.1023G>A c.(1021-1023)CTG>CTA p.L341L ZP2_uc010bwn.1_Silent_p.L380L NM_003460 NP_003451 Q05996 ZP2_HUMAN zona pellucida glycoprotein 2 preproprotein 341 Extracellular (Potential). binding of sperm to zona pellucida|intracellular protein transport endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule acrosin binding|coreceptor activity central_nervous_system(2)|ovary(1) 3 GBM - Glioblastoma multiforme(48;0.0573) GGAGAAAGGTCAGCTTGAGTG 0.433 NaN 0 0 0 0.010729 0 11 53 COG7 91949 broad.mit.edu 37 16 23436192 23436192 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr16:23436192G>A uc002dlo.2 - 7 1075 c.887C>T c.(886-888)TCC>TTC p.S296F NM_153603 NP_705831 P83436 COG7_HUMAN component of oligomeric golgi complex 7 296 intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|Golgi transport complex protein binding 0 GBM - Glioblastoma multiforme(48;0.0401) GCTGAGGCAGGAGGGCAGCGA 0.642 NaN 0 0 0 0.008871 0 19 47 GGA2 23062 broad.mit.edu 37 16 23492071 23492071 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr16:23492071C>T uc002dlq.2 - 10 977 c.901G>A c.(901-903)GAC>AAC p.D301N GGA2_uc010bxo.1_RNA NM_015044 NP_055859 Q9UJY4 GGA2_HUMAN ADP-ribosylation factor binding protein 2 301 GAT. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network ADP-ribosylation factor binding ovary(1)|central_nervous_system(1) 2 GBM - Glioblastoma multiforme(48;0.0386) GTGAGGAGGTCATTTGCCTGG 0.493 NaN 0 0 0 0.01441 0 265 46 TNRC6A 27327 broad.mit.edu 37 16 24802299 24802299 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr16:24802299C>T uc002dmm.2 + 6 2450 c.2336C>T c.(2335-2337)TCT>TTT p.S779F TNRC6A_uc010bxs.2_Missense_Mutation_p.S526F|TNRC6A_uc010vcc.1_Missense_Mutation_p.S526F|TNRC6A_uc002dmn.2_Missense_Mutation_p.S526F|TNRC6A_uc002dmo.2_Missense_Mutation_p.S526F NM_014494 NP_055309 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 779 Sufficient for interaction with EIF2C1 and EIF2C4. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding ovary(2) 2 GBM - Glioblastoma multiforme(48;0.0394) GATACCTCATCTGTATCAGGG 0.517 NaN 0 0 0 0.004482 0 9 121 TNRC6A 27327 broad.mit.edu 37 16 24817006 24817006 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr16:24817006G>A uc002dmm.2 + 15 4317 c.4203G>A c.(4201-4203)CTG>CTA p.L1401L TNRC6A_uc010bxs.2_Silent_p.L1148L|TNRC6A_uc002dmn.2_Silent_p.L1099L|TNRC6A_uc002dmo.2_Silent_p.L1040L|TNRC6A_uc002dmp.2_Silent_p.L2L|TNRC6A_uc002dmq.2_Silent_p.L68L NM_014494 NP_055309 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 1401 negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding ovary(2) 2 GBM - Glioblastoma multiforme(48;0.0394) TAGCCATGCTGAACCAGCTAT 0.403 NaN 0 0 0 0.010771 0 45 421 XPO6 23214 broad.mit.edu 37 16 28128716 28128716 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr16:28128716G>A uc002dpa.1 - 15 2428 c.1927C>T c.(1927-1929)CAC>TAC p.H643Y XPO6_uc002dpb.1_Missense_Mutation_p.H629Y|XPO6_uc010vcp.1_Missense_Mutation_p.H643Y NM_015171 NP_055986 Q96QU8 XPO6_HUMAN exportin 6 643 protein export from nucleus protein binding|protein transporter activity ovary(1)|skin(1) 2 TTCTGCCGGTGAACTTCACTG 0.488 NaN 0 0 0 0.00632 0 28 147 NFATC2IP 84901 broad.mit.edu 37 16 28975091 28975091 + Silent SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr16:28975091C>G uc002dru.2 + 8 1182 c.1167C>G c.(1165-1167)CTC>CTG p.L389L uc010vct.1_Intron|NFATC2IP_uc002drt.2_Silent_p.L110L|NFATC2IP_uc002drv.2_Silent_p.L108L|NFATC2IP_uc010vdh.1_Silent_p.L97L NM_032815 NP_116204 Q8NCF5 NF2IP_HUMAN nuclear factor of activated T-cells, 389 Ubiquitin-like. cytoplasm|nucleus ovary(1) 1 GACGGAAGCTCTCCTTCTTCT 0.547 NaN 0 0 0 0.004007 0 17 59 KIF22 3835 broad.mit.edu 37 16 29814250 29814250 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr16:29814250G>A uc002dts.3 + 9 1465 c.1441G>A c.(1441-1443)GAG>AAG p.E481K uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|KIF22_uc010vdv.1_Missense_Mutation_p.E413K|KIF22_uc010vdw.1_Missense_Mutation_p.E413K|KIF22_uc010bzf.2_Missense_Mutation_p.E413K|KIF22_uc002dtt.1_5'Flank|KIF22_uc002frc.1_5'Flank NM_007317 NP_015556 Q14807 KIF22_HUMAN kinesin family member 22 481 Potential. blood coagulation|DNA repair|microtubule-based movement|mitosis cytosol|kinetochore|microtubule|nucleus ATP binding|DNA binding|microtubule motor activity|protein binding 0 GAAGGACCTAGAGATTGAGGT 0.552 NaN 0 0 0 0.004656 0 24 28 SEPT1 1731 broad.mit.edu 37 16 30390351 30390351 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr16:30390351C>T uc002dxy.2 - 10 1101 c.914G>A c.(913-915)CGA>CAA p.R305Q SEPT1_uc002dxw.2_5'Flank|SEPT1_uc002dxx.2_Missense_Mutation_p.R130Q NM_052838 NP_443070 Q8WYJ6 SEPT1_HUMAN septin 1 305 cell cycle|cell division microtubule organizing center|septin complex GTP binding|protein binding ovary(1) 1 Colorectal(24;0.193) GCGGCTGGCTCGATCGCGAGC 0.682 NaN 0 0 0 0.00245 0 8 4 SEPT1 1731 broad.mit.edu 37 16 30390418 30390418 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr16:30390418C>T uc002dxy.2 - 10 1034 c.847G>A c.(847-849)GAT>AAT p.D283N SEPT1_uc002dxw.2_5'Flank|SEPT1_uc002dxx.2_Missense_Mutation_p.D108N NM_052838 NP_443070 Q8WYJ6 SEPT1_HUMAN septin 1 283 cell cycle|cell division microtubule organizing center|septin complex GTP binding|protein binding ovary(1) 1 Colorectal(24;0.193) TAGAGCAGATCGTGCGTCACC 0.667 NaN 0 0 0 0.013537 0 11 45 SRCAP 10847 broad.mit.edu 37 16 30740403 30740403 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr16:30740403C>T uc002dze.1 + 26 6160 c.5775C>T c.(5773-5775)TTC>TTT p.F1925F SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Silent_p.F1720F NM_006662 NP_006653 Q6ZRS2 SRCAP_HUMAN Snf2-related CBP activator protein 1925 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) TCCTGGATTTCTGTACCCTGC 0.617 NaN 0 0 0 0.001855 0 12 54 ZNF646 9726 broad.mit.edu 37 16 31088003 31088003 + Nonsense_Mutation SNP G G T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr16:31088003G>T uc002eap.2 + 2 647 c.358G>T c.(358-360)GAG>TAG p.E120* ZNF668_uc002eao.2_5'Flank NM_014699 NP_055514 O15015 ZN646_HUMAN zinc finger protein 646 120 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(2) 2 CCTCCAGGGTGAGACGGTGTC 0.582 NaN 1 0 1.33834e-09 0.007413 1.38957e-09 20 17 ZNF646 9726 broad.mit.edu 37 16 31090756 31090756 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr16:31090756C>T uc002eap.2 + 2 3400 c.3111C>T c.(3109-3111)TGC>TGT p.C1037C NM_014699 NP_055514 O15015 ZN646_HUMAN zinc finger protein 646 1037 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(2) 2 ACAGCCTCTGCATCCAGGGTG 0.597 NaN 0 0 0 0.006999 0 37 104 SHCBP1 79801 broad.mit.edu 37 16 46649952 46649952 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr16:46649952G>A uc002eec.3 - 4 542 c.502C>T c.(502-504)CTG>TTG p.L168L NM_024745 NP_079021 Q8NEM2 SHCBP_HUMAN SHC SH2-domain binding protein 1 168 ovary(1)|breast(1) 2 all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213) TGCTCCTTCAGATCAAGGAGC 0.517 NaN 0 0 0 0.014323 0 19 50 NOD2 64127 broad.mit.edu 37 16 50745896 50745896 + Missense_Mutation SNP G G A rs143782684 TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr16:50745896G>A uc002egm.1 + 4 2179 c.2074G>A c.(2074-2076)GAG>AAG p.E692K NOD2_uc010cbk.1_Missense_Mutation_p.E665K|NOD2_uc002egl.1_Missense_Mutation_p.E470K|NOD2_uc010cbl.1_Missense_Mutation_p.E470K|NOD2_uc010cbm.1_Missense_Mutation_p.E470K|NOD2_uc010cbn.1_RNA|NOD2_uc010cbo.1_RNA|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank NM_022162 NP_071445 Q9HC29 NOD2_HUMAN nucleotide-binding oligomerization domain 692 activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cell surface|cytosol|plasma membrane|vesicle ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding ovary(3)|skin(1) 4 all_cancers(37;0.0156) CCTGCTGGCTGAGTGCCAGAC 0.672 NaN 0 0 0 0.004007 0 15 34 RBL2 5934 broad.mit.edu 37 16 53514621 53514621 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr16:53514621C>G uc002ehi.3 + 20 3142 c.3024C>G c.(3022-3024)TTC>TTG p.F1008L RBL2_uc002ehj.2_Missense_Mutation_p.F718L|RBL2_uc010vgw.1_Intron NM_005611 NP_005602 Q08999 RBL2_HUMAN retinoblastoma-like 2 (p130) 1008 Domain B.|Pocket; binds E1A. cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(2)|lung(2)|upper_aerodigestive_tract(1) 5 TCATTCAGTTCTACAACAACA 0.453 NaN 0 0 0 0.01441 0 94 45 CETP 1071 broad.mit.edu 37 16 57016076 57016076 + Splice_Site SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr16:57016076G>A uc002eki.2 + 14 1306 c.1249_splice c.e14-1 p.S417_splice CETP_uc002ekj.2_Splice_Site_p.S357_splice NM_000078 NP_000069 P11597 CETP_HUMAN cholesteryl ester transfer protein, plasma cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling high-density lipoprotein particle|vesicle cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding central_nervous_system(1)|skin(1) 2 TTGATTGGCAGAGCAGCTCCG 0.577 NaN 0 0 0 0.007835 0 38 28 NLRC5 84166 broad.mit.edu 37 16 57062240 57062240 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr16:57062240G>A uc002ekk.1 + 8 2411 c.2186G>A c.(2185-2187)CGA>CAA p.R729Q NLRC5_uc010ccq.1_RNA|NLRC5_uc002ekn.2_Intron|NLRC5_uc002ekl.2_Missense_Mutation_p.R534Q|NLRC5_uc002ekm.2_Missense_Mutation_p.R534Q|NLRC5_uc010ccr.1_RNA NM_032206 NP_115582 Q86WI3 NLRC5_HUMAN nucleotide-binding oligomerization domains 27 729 LRR 2. defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding ovary(4)|skin(2)|breast(1) 7 all_neural(199;0.225) ATCACTGCCCGAGGCATCAGC 0.552 NaN 0 0 0 0.010771 0 43 117 CPNE2 221184 broad.mit.edu 37 16 57181557 57181557 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr16:57181557C>G uc002eks.1 + 16 1863 c.1634C>G c.(1633-1635)TCG>TGG p.S545W CPNE2_uc010cct.1_Missense_Mutation_p.S571W|CPNE2_uc010ccu.1_Missense_Mutation_p.S545W|CPNE2_uc002ekt.1_3'UTR NM_152727 NP_689940 Q96FN4 CPNE2_HUMAN copine II 545 central_nervous_system(1)|skin(1) 2 all_neural(199;0.224) CCCACCAACTCGGAGCCCGCC 0.602 NaN 0 0 0 0.004482 0 8 13 CX3CL1 6376 broad.mit.edu 37 16 57416765 57416765 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr16:57416765C>T uc002eli.2 + 3 1082 c.1015C>T c.(1015-1017)CGG>TGG p.R339W NM_002996 NP_002987 P78423 X3CL1_HUMAN chemokine (C-X3-C motif) ligand 1 precursor 339 Mucin-like stalk.|Extracellular (Potential). Cleavage; to produce soluble form (Potential). cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response cell surface|extracellular space|integral to membrane|plasma membrane chemokine activity 0 GGCTGCCACCCGGAGGCAGGC 0.657 NaN 0 0 0 0.001855 0 9 26 CDH16 1014 broad.mit.edu 37 16 66945993 66945993 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr16:66945993C>G uc002eql.2 - 13 1672 c.1599G>C c.(1597-1599)CAG>CAC p.Q533H CDH16_uc010cdy.2_Missense_Mutation_p.Q533H|CDH16_uc002eqm.2_Missense_Mutation_p.Q436H NM_004062 NP_004053 O75309 CAD16_HUMAN cadherin 16 precursor 533 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|upper_aerodigestive_tract(1) 3 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) TCGCCACACTCTGCACCACCA 0.637 NaN 0 0 0 0.001984 0 6 22 HSF4 3299 broad.mit.edu 37 16 67203215 67203215 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr16:67203215G>C uc002erl.1 + 14 2253 c.1288G>C c.(1288-1290)GAG>CAG p.E430Q HSF4_uc002erm.1_Missense_Mutation_p.E400Q|HSF4_uc002ern.1_RNA|HSF4_uc010cec.1_Intron|NOL3_uc010vjc.1_5'Flank NM_001040667 NP_001035757 Q9ULV5 HSF4_HUMAN heat shock transcription factor 4 isoform b 430 response to stress nucleus sequence-specific DNA binding transcription factor activity|transcription corepressor activity 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184) GGGTGAGCCTGAGCTGGCGGT 0.597 NaN 0 0 0 0.001168 0 6 13 NOL3 8996 broad.mit.edu 37 16 67208208 67208208 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr16:67208208G>A uc010vjd.1 + 2 329 c.322G>A c.(322-324)GAG>AAG p.E108K NOL3_uc010vjc.1_Missense_Mutation_p.E108K|NOL3_uc002erp.2_Missense_Mutation_p.E46K O60936 NOL3_HUMAN RecName: Full=Nucleolar protein 3; AltName: Full=Apoptosis repressor with CARD; AltName: Full=Muscle-enriched cytoplasmic protein; Short=Myp; AltName: Full=Nucleolar protein of 30 kDa; Short=Nop30; 46 CARD. anti-apoptosis|apoptosis|mRNA processing|RNA splicing cytosol|nucleolus identical protein binding|RNA binding 0 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184) GCCAGAGTACGAGGCATTGGA 0.706 NaN 0 0 0 0.009096 0 4 8 KCTD19 146212 broad.mit.edu 37 16 67324826 67324826 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr16:67324826C>G uc002esu.2 - 15 2680 c.2629G>C c.(2629-2631)GAC>CAC p.D877H KCTD19_uc002est.2_Missense_Mutation_p.D649H|KCTD19_uc010vjj.1_Missense_Mutation_p.D620H NM_001100915 NP_001094385 Q17RG1 KCD19_HUMAN potassium channel tetramerisation domain 877 voltage-gated potassium channel complex voltage-gated potassium channel activity skin(1) 1 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906) GTGTGCCGGTCATCCTTGAAG 0.607 NaN 0 0 0 0.000602 0 5 10 CENPT 80152 broad.mit.edu 37 16 67865789 67865789 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr16:67865789C>G uc002eun.3 - 8 940 c.391G>C c.(391-393)GAG>CAG p.E131Q CENPT_uc002eum.3_Missense_Mutation_p.E131Q|CENPT_uc010vkc.1_5'UTR|CENPT_uc010vkd.1_Intron|CENPT_uc010vke.1_Missense_Mutation_p.E28Q NM_025082 NP_079358 Q96BT3 CENPT_HUMAN centromere protein T 131 mitotic prometaphase condensed chromosome kinetochore|cytosol|nucleus DNA binding 0 Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124) AGTTGCAGCTCCAGGCTATAA 0.557 NaN 0 0 0 0.001168 0 6 13 TMED6 146456 broad.mit.edu 37 16 69385466 69385466 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr16:69385466C>T uc002exc.1 - 1 224 c.191G>A c.(190-192)GGA>GAA p.G64E NM_144676 NP_653277 Q8WW62 TMED6_HUMAN transmembrane emp24 protein transport domain 64 Lumenal (Potential).|GOLD. transport endoplasmic reticulum membrane|integral to membrane ovary(1) 1 ATAGAAGTATCCAGTCTGGTG 0.483 NaN 0 0 0 0.003954 0 24 44 NFAT5 10725 broad.mit.edu 37 16 69726682 69726682 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr16:69726682C>T uc002exm.1 + 12 4108 c.2900C>T c.(2899-2901)TCT>TTT p.S967F NFAT5_uc002exi.2_Missense_Mutation_p.S891F|NFAT5_uc002exj.1_Missense_Mutation_p.S891F|NFAT5_uc002exk.1_Missense_Mutation_p.S891F|NFAT5_uc002exl.1_Missense_Mutation_p.S985F|NFAT5_uc002exn.1_Missense_Mutation_p.S984F|NFAT5_uc002exo.1_5'Flank NM_006599 NP_006590 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5 isoform c 967 Poly-Thr. excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity 0 AATGAAACTTCTACAACTACC 0.428 NaN 0 0 0 0.006122 0 19 58 AARS 16 broad.mit.edu 37 16 70301626 70301626 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr16:70301626G>A uc002eyn.1 - 9 1268 c.1158C>T c.(1156-1158)CTC>CTT p.L386L AARS_uc010vlu.1_Silent_p.L216L NM_001605 NP_001596 P49588 SYAC_HUMAN alanyl-tRNA synthetase 386 alanyl-tRNA aminoacylation|tRNA processing cytosol|soluble fraction alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding pancreas(1) 1 Ovarian(137;0.0365) BRCA - Breast invasive adenocarcinoma(221;0.161) L-Alanine(DB00160) GCCCTCTGCTGAGAGTCTTGA 0.517 NaN OREG0023913 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.006122 0 19 37 FUK 197258 broad.mit.edu 37 16 70504931 70504931 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr16:70504931G>A uc002eyy.2 + 12 1184 c.1126G>A c.(1126-1128)GTC>ATC p.V376I FUK_uc010cft.2_Missense_Mutation_p.V408I|FUK_uc002eyz.2_5'UTR NM_145059 NP_659496 Q8N0W3 FUK_HUMAN fucokinase 376 cytoplasm ATP binding|fucokinase activity ovary(1) 1 Ovarian(137;0.0694) GGAGGGCCCTGTCCAGCTGGG 0.682 NaN 0 0 0 0.000602 0 4 3 COG4 25839 broad.mit.edu 37 16 70546183 70546183 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr16:70546183C>T uc002ezc.2 - 5 708 c.697G>A c.(697-699)GAG>AAG p.E233K COG4_uc002ezb.2_5'Flank|COG4_uc010cfu.2_RNA|COG4_uc002ezd.2_Missense_Mutation_p.E233K|COG4_uc002eze.2_5'UTR NM_015386 NP_056201 Q9H9E3 COG4_HUMAN component of oligomeric golgi complex 4 229 Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|Golgi transport complex protein binding 0 Ovarian(137;0.0694) AATCCCTCCTCATGCAAACCC 0.522 NaN 0 0 0 0.00278 0 22 30 CDH13 1012 broad.mit.edu 37 16 83817067 83817067 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr16:83817067C>T uc002fgx.2 + 13 2244 c.2124C>T c.(2122-2124)TTC>TTT p.F708F CDH13_uc010vns.1_Silent_p.F755F|CDH13_uc010vnt.1_Silent_p.F454F|CDH13_uc010vnu.1_Silent_p.F669F NM_001257 NP_001248 P55290 CAD13_HUMAN cadherin 13 preproprotein 708 adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding large_intestine(1) 1 all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09) COAD - Colon adenocarcinoma(5;0.0268) TCAGCCTCTTCAGCTTAGCTT 0.522 NaN 0 0 0 0.010818 0 29 41 ZZEF1 23140 broad.mit.edu 37 17 4045890 4045890 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:4045890G>A uc002fxe.2 - 1 364 c.300C>T c.(298-300)TTC>TTT p.F100F ZZEF1_uc002fxk.1_Silent_p.F100F|CYB5D2_uc002fxm.3_5'Flank|CYB5D2_uc010cko.2_5'Flank|CYB5D2_uc002fxl.3_5'Flank NM_015113 NP_055928 O43149 ZZEF1_HUMAN zinc finger, ZZ type with EF hand domain 1 100 calcium ion binding|zinc ion binding ovary(2)|central_nervous_system(1)|pancreas(1) 4 GCAGCTCCCGGAACTGCTCCA 0.716 NaN 0 0 0 0.013537 0 8 4 PELP1 27043 broad.mit.edu 37 17 4577935 4577935 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:4577935C>T uc002fyi.3 - 13 1678 c.1452G>A c.(1450-1452)GGG>GGA p.G484G PELP1_uc010vsf.1_Silent_p.G337G NM_014389 NP_055204 Q8IZL8 PELP1_HUMAN proline, glutamic acid and leucine rich protein 484 transcription, DNA-dependent cytoplasm|MLL1 complex protein binding ovary(1)|central_nervous_system(1) 2 TCTGCAAACTCCCATCAGGGC 0.577 NaN 0 0 0 0.003163 0 15 7 USP6 9098 broad.mit.edu 37 17 5058719 5058719 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:5058719G>A uc002gau.1 + 31 4876 c.2646G>A c.(2644-2646)ATG>ATA p.M882I USP6_uc002gav.1_Missense_Mutation_p.M882I|USP6_uc010ckz.1_Missense_Mutation_p.M565I NM_004505 NP_004496 P35125 UBP6_HUMAN ubiquitin specific protease 6 882 protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1) 5 ACATACAGATGAGGACAGAAC 0.453 NaN T COL1A1|CDH11|ZNF9|OMD aneurysmal bone cysts 0 0 0 0.01441 0 71 30 ZNF594 84622 broad.mit.edu 37 17 5086360 5086360 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:5086360G>A uc010cla.1 - 2 1348 c.1192C>T c.(1192-1194)CAT>TAT p.H398Y NM_032530 NP_115919 Q96JF6 ZN594_HUMAN zinc finger protein 594 398 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|skin(1) 3 TCTCCTGTATGAGTTACCTGA 0.423 NaN 0 0 0 0.01441 0 263 89 NUP88 4927 broad.mit.edu 37 17 5322700 5322700 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:5322700C>T uc002gbo.1 - 1 297 c.271G>A c.(271-273)GAA>AAA p.E91K NUP88_uc010vsx.1_Missense_Mutation_p.E91K|NUP88_uc010cle.1_Missense_Mutation_p.E91K|NUP88_uc010vsy.1_Missense_Mutation_p.E91K|RPAIN_uc010vsz.1_5'Flank|RPAIN_uc002gbp.1_5'Flank|RPAIN_uc010vta.1_5'Flank|RPAIN_uc002gbq.2_5'Flank|RPAIN_uc010vtb.1_5'Flank|RPAIN_uc002gbs.2_5'Flank|RPAIN_uc002gbt.2_5'Flank|RPAIN_uc002gbu.2_5'Flank|RPAIN_uc002gbv.2_5'Flank|RPAIN_uc002gbr.2_5'Flank|RPAIN_uc002gbw.2_5'Flank NM_002532 NP_002523 Q99567 NUP88_HUMAN nucleoporin 88kDa 91 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore transporter activity kidney(1) 1 GCGGGCTCTTCGCCGCCGCCG 0.602 NaN 0 0 0 0.007413 0 20 27 NUP88 4927 broad.mit.edu 37 17 5322772 5322772 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:5322772C>G uc002gbo.1 - 1 225 c.199G>C c.(199-201)GAG>CAG p.E67Q NUP88_uc010vsx.1_Missense_Mutation_p.E67Q|NUP88_uc010cle.1_Missense_Mutation_p.E67Q|NUP88_uc010vsy.1_Missense_Mutation_p.E67Q|RPAIN_uc010vsz.1_5'Flank|RPAIN_uc002gbp.1_5'Flank|RPAIN_uc010vta.1_5'Flank|RPAIN_uc002gbq.2_5'Flank|RPAIN_uc010vtb.1_5'Flank|RPAIN_uc002gbs.2_5'Flank|RPAIN_uc002gbt.2_5'Flank|RPAIN_uc002gbu.2_5'Flank|RPAIN_uc002gbv.2_5'Flank|RPAIN_uc002gbr.2_5'Flank|RPAIN_uc002gbw.2_5'Flank NM_002532 NP_002523 Q99567 NUP88_HUMAN nucleoporin 88kDa 67 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore transporter activity kidney(1) 1 AGGAAAAGCTCTCCGCCGAGG 0.632 NaN 0 0 0 0.006999 0 37 41 NLRP1 22861 broad.mit.edu 37 17 5418329 5418329 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:5418329C>T uc002gci.2 - 17 4722 c.4167G>A c.(4165-4167)CTG>CTA p.L1389L NLRP1_uc002gcg.1_Intron|NLRP1_uc002gck.2_Silent_p.L1345L|NLRP1_uc002gcj.2_Silent_p.L1359L|NLRP1_uc002gcl.2_Silent_p.L1315L|NLRP1_uc002gch.3_Silent_p.L1345L NM_033004 NP_127497 Q9C000 NALP1_HUMAN NLR family, pyrin domain containing 1 isoform 1 1389 CARD. defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide cytoplasm|NALP1 inflammasome complex|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1) 9 Colorectal(1115;3.48e-05) CTCGGGCTATCAGCTGCTCTC 0.577 NaN 0 0 0 0.007413 0 20 19 PITPNM3 83394 broad.mit.edu 37 17 6358809 6358809 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:6358809C>T uc002gdd.3 - 20 2925 c.2774G>A c.(2773-2775)AGA>AAA p.R925K PITPNM3_uc010cln.2_Missense_Mutation_p.R889K|PITPNM3_uc010clm.2_Missense_Mutation_p.R408K|PITPNM3_uc002gdc.3_Missense_Mutation_p.R516K NM_031220 NP_112497 Q9BZ71 PITM3_HUMAN PITPNM family member 3 isoform 1 925 phosphatidylinositol metabolic process endomembrane system|integral to membrane calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding ovary(2)|central_nervous_system(2) 4 Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185) TGACATGGTTCTGCGCAGGTG 0.677 NaN 0 0 0 0.004007 0 16 5 DVL2 1856 broad.mit.edu 37 17 7129501 7129501 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:7129501G>A uc002gez.1 - 15 2176 c.1894C>T c.(1894-1896)CGG>TGG p.R632W uc002gey.1_5'Flank|MIR324_hsa-mir-324|MI0000813_5'Flank|DVL2_uc010vtr.1_Missense_Mutation_p.R626W NM_004422 NP_004413 O14641 DVL2_HUMAN dishevelled 2 632 canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter cytosol|nucleus|plasma membrane frizzled binding|identical protein binding|signal transducer activity lung(1)|kidney(1) 2 CCACCCCGCCGAAGGCTGCCC 0.716 NaN 0 0 0 0.004482 0 6 31 GABARAP 11337 broad.mit.edu 37 17 7145647 7145647 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:7145647C>T uc002gfb.2 - 1 107 c.3G>A c.(1-3)ATG>ATA p.M1I PHF23_uc002gfa.2_5'Flank|PHF23_uc010vtt.1_5'Flank|PHF23_uc010cma.2_5'Flank NM_007278 NP_009209 O95166 GBRAP_HUMAN GABA(A) receptor-associated protein 1 Interaction with beta-tubulin. protein targeting|synaptic transmission autophagic vacuole membrane|Golgi membrane|microtubule|plasma membrane beta-tubulin binding|GABA receptor binding 0 ACACGAACTTCATCCTCCCGG 0.672 NaN 0 0 0 0.008361 0 32 7 KCTD11 147040 broad.mit.edu 37 17 7256381 7256381 + Silent SNP G G A rs144008002 TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:7256381G>A uc002gge.3 + 1 1174 c.120G>A c.(118-120)CTG>CTA p.L40L 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 40 BTB. cell cycle|regulation of growth voltage-gated potassium channel complex voltage-gated potassium channel activity 0 Prostate(122;0.157) TCAATTTCCTGAGGCTGGGCC 0.667 NaN 0 0 0 0.008361 0 32 6 SOX15 6665 broad.mit.edu 37 17 7492785 7492785 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:7492785C>T uc002ghy.1 - 2 358 c.210G>A c.(208-210)CAG>CAA p.Q70Q MPDU1_uc010vuc.1_Intron|SOX15_uc002ghz.1_Silent_p.Q70Q NM_006942 NP_008873 O60248 SOX15_HUMAN SRY-box 15 70 HMG box. QQ -> HE (in Ref. 5; CAA51520). chromatin organization|male gonad development nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1) 1 TCTTGGGGTTCTGCTGCGCCA 0.682 NaN OREG0024139 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.001855 0 12 9 TP53 7157 broad.mit.edu 37 17 7572986 7572986 + Nonsense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 G A G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:7572986G>A uc002gim.2 - 11 1317 c.1123C>T c.(1123-1125)CAG>TAG p.Q375* TP53_uc002gig.1_Intron|TP53_uc002gih.2_Intron|TP53_uc010cne.1_RNA|TP53_uc010cnf.1_3'UTR|TP53_uc010cng.1_3'UTR|TP53_uc002gii.1_Nonsense_Mutation_p.Q243*|TP53_uc010cnh.1_3'UTR|TP53_uc010cni.1_3'UTR|TP53_uc002gij.2_Nonsense_Mutation_p.Q375* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 375 Basic (repression of DNA-binding).|Interaction with CARM1. activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(7)|p.?(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GAGGTAGACTGACCCTTTTTG 0.527 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 0 0 0 0.01441 0 68 24 TP53 7157 broad.mit.edu 37 17 7577127 7577127 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:7577127C>T uc002gim.2 - 8 1005 c.811G>A c.(811-813)GAG>AAG p.E271K TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.E271K|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.E139K|TP53_uc010cng.1_Missense_Mutation_p.E139K|TP53_uc002gii.1_Missense_Mutation_p.E139K|TP53_uc010cnh.1_Missense_Mutation_p.E271K|TP53_uc010cni.1_Missense_Mutation_p.E271K|TP53_uc002gij.2_Missense_Mutation_p.E271K NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 271 |Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> V (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> A (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.E271K(22)|p.E271*(14)|p.0?(7)|p.E271V(5)|p.E271Q(3)|p.E271G(3)|p.E271D(3)|p.?(2)|p.G266_E271delGRNSFE(2)|p.E271E(2)|p.E271fs*73(1)|p.E258fs*71(1)|p.E271_R273delEVR(1)|p.F270fs*72(1)|p.S269fs*21(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.E271P(1)|p.E271del(1)|p.S269fs*34(1)|p.E271fs*34(1)|p.E271fs*35(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) ACACGCACCTCAAAGCTGTTC 0.537 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 0 0 0 0.014323 0 23 6 DNAH2 146754 broad.mit.edu 37 17 7702525 7702525 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:7702525C>T uc002giu.1 + 55 8678 c.8664C>T c.(8662-8664)ATC>ATT p.I2888I NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 2888 AAA 4 (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) ACCTGCACATCGTGCTCTGCC 0.592 NaN 0 0 0 0.007291 0 30 13 LSMD1 84316 broad.mit.edu 37 17 7760451 7760451 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:7760451G>A uc002giz.2 - 2 246 c.147C>T c.(145-147)CTC>CTT p.L49L LSMD1_uc002gja.2_Silent_p.L97L|CYB5D1_uc010cnn.1_5'Flank|CYB5D1_uc002gjb.3_5'Flank Q9BRA0 LSMD1_HUMAN RecName: Full=LSM domain-containing protein 1; AltName: Full=Phosphonoformate immuno-associated protein 2; 49 Potential. cytoplasm|nucleus ovary(1) 1 all_cancers(10;0.11)|Prostate(122;0.219) TAGTCTTGTTGAGCAGCGCCT 0.642 NaN OREG0024146 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.003755 0 32 82 CHD3 1107 broad.mit.edu 37 17 7792337 7792337 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:7792337G>A uc002gje.2 + 1 169 c.19G>A c.(19-21)GTG>ATG p.V7M CHD3_uc002gjd.2_Intron|CHD3_uc002gjf.2_Missense_Mutation_p.V7M|CHD3_uc002gjg.1_5'Flank NM_001005273 NP_001005273 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 7 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(1) 1 Prostate(122;0.202) GGCAGACACTGTGATCCTGTG 0.458 NaN 0 0 0 0.01441 0 50 17 MYH10 4628 broad.mit.edu 37 17 8508259 8508259 + Missense_Mutation SNP C C A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:8508259C>A uc002gll.2 - 3 483 c.387G>T c.(385-387)AAG>AAT p.K129N MYH10_uc002glm.2_Missense_Mutation_p.K129N|MYH10_uc010cnx.2_Missense_Mutation_p.K129N NM_005964 NP_005955 P35580 MYH10_HUMAN myosin, heavy polypeptide 10, non-muscle 129 Myosin head-like. actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity ovary(2) 2 TTGGAAGATTCTTGTAAGGGT 0.303 NaN 1 0 9.16793e-09 0.00499 9.49614e-09 17 65 PIK3R6 146850 broad.mit.edu 37 17 8725949 8725949 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:8725949G>A uc002glq.1 - 16 1983 c.1743C>T c.(1741-1743)GGC>GGT p.G581G PIK3R6_uc002glr.1_RNA|PIK3R6_uc002gls.1_RNA NM_001010855 NP_001010855 Q5UE93 PI3R6_HUMAN phosphoinositide-3-kinase, regulatory subunit 6 581 platelet activation cytosol 0 CCTCAGCCACGCCTCTCCTCC 0.607 NaN 0 0 0 0.010729 0 11 22 NTN1 9423 broad.mit.edu 37 17 9143161 9143161 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:9143161C>T uc002glw.3 + 7 1798 c.1691C>T c.(1690-1692)TCT>TTT p.S564F NM_004822 NP_004813 O95631 NET1_HUMAN netrin 1 precursor 564 NTR. apoptosis|axon guidance protein binding 0 GCGGAGGACTCTCCGGACCAG 0.637 NaN 0 0 0 0.00308 0 7 3 NCOR1 9611 broad.mit.edu 37 17 15942956 15942956 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 G C G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:15942956G>C uc002gpo.2 - 44 6986 c.6746C>G c.(6745-6747)TCT>TGT p.S2249C NCOR1_uc002gpn.2_Missense_Mutation_p.S2146C|NCOR1_uc002gpl.2_Missense_Mutation_p.S264C|NCOR1_uc002gpm.2_Missense_Mutation_p.S769C|NCOR1_uc010vwb.1_Missense_Mutation_p.S833C|NCOR1_uc010coy.2_Missense_Mutation_p.S1157C NM_006311 NP_006302 O75376 NCOR1_HUMAN nuclear receptor co-repressor 1 2249 Interaction with C1D (By similarity).|ID2 (By similarity). cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) ATGGCCTCTAGAGCTAACTGA 0.433 NaN 0 0 0 0.001984 0 7 12 ULK2 9706 broad.mit.edu 37 17 19708077 19708077 + Missense_Mutation SNP C C A rs138826045 TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:19708077C>A uc002gwm.3 - 15 1733 c.1224G>T c.(1222-1224)AGG>AGT p.R408S ULK2_uc002gwn.2_Missense_Mutation_p.R408S NM_001142610 NP_001136082 Q8IYT8 ULK2_HUMAN unc-51-like kinase 2 408 signal transduction ATP binding|protein binding|protein serine/threonine kinase activity skin(2)|large_intestine(1)|stomach(1) 4 all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186) GCTGATAATTCCTTATTTGAG 0.408 NaN 1 0 2.91434e-09 0.004878 3.023e-09 36 20 VTN 7448 broad.mit.edu 37 17 26696647 26696647 + Nonsense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:26696647G>C uc002hbc.2 - 3 559 c.410C>G c.(409-411)TCA>TGA p.S137* 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 137 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) CTCAGGCCTTGAGTCTATCCC 0.612 NaN 0 0 0 0.008291 0 10 37 KIAA0100 9703 broad.mit.edu 37 17 26965042 26965042 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:26965042C>G uc002hbu.2 - 14 1682 c.1583G>C c.(1582-1584)CGA>CCA p.R528P NM_014680 NP_055495 Q14667 K0100_HUMAN hypothetical protein LOC9703 precursor 528 extracellular region ovary(2)|breast(1)|skin(1) 4 Lung NSC(42;0.00431) CTGAAGTCCTCGAATGGTACA 0.502 NaN 0 0 0 0.014323 0 22 31 KIAA0100 9703 broad.mit.edu 37 17 26967622 26967622 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:26967622C>T uc002hbu.2 - 8 945 c.846G>A c.(844-846)AAG>AAA p.K282K KIAA0100_uc002hbv.2_Silent_p.K282K|KIAA0100_uc010crr.1_Silent_p.K139K NM_014680 NP_055495 Q14667 K0100_HUMAN hypothetical protein LOC9703 precursor 282 extracellular region ovary(2)|breast(1)|skin(1) 4 Lung NSC(42;0.00431) TGTTCTCCATCTTAACCTTGA 0.463 NaN 0 0 0 0.004878 0 33 74 KIAA0100 9703 broad.mit.edu 37 17 26967681 26967681 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:26967681C>T uc002hbu.2 - 8 886 c.787G>A c.(787-789)GAG>AAG p.E263K KIAA0100_uc002hbv.2_Missense_Mutation_p.E263K|KIAA0100_uc010crr.1_Missense_Mutation_p.E120K NM_014680 NP_055495 Q14667 K0100_HUMAN hypothetical protein LOC9703 precursor 263 extracellular region ovary(2)|breast(1)|skin(1) 4 Lung NSC(42;0.00431) AGAGTTGGCTCAACTAAGTTT 0.448 NaN 0 0 0 0.00278 0 25 43 KIAA0100 9703 broad.mit.edu 37 17 26967693 26967693 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:26967693C>T uc002hbu.2 - 8 874 c.775G>A c.(775-777)GAA>AAA p.E259K KIAA0100_uc002hbv.2_Missense_Mutation_p.E259K|KIAA0100_uc010crr.1_Missense_Mutation_p.E116K NM_014680 NP_055495 Q14667 K0100_HUMAN hypothetical protein LOC9703 precursor 259 extracellular region ovary(2)|breast(1)|skin(1) 4 Lung NSC(42;0.00431) ACTAAGTTTTCTGTCACCTCT 0.463 NaN 0 0 0 0.014323 0 23 36 TRAF4 9618 broad.mit.edu 37 17 27075418 27075418 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:27075418G>A uc002hcs.2 + 5 709 c.601G>A c.(601-603)GAG>AAG p.E201K TRAF4_uc002hcq.1_Intron NM_004295 NP_004286 Q9BUZ4 TRAF4_HUMAN TNF receptor-associated factor 4 201 TRAF-type 2. apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction DNA binding|ubiquitin-protein ligase activity|WW domain binding|zinc ion binding upper_aerodigestive_tract(1)|lung(1) 2 Lung NSC(42;0.01) Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235) CTGCACTAAGGAGTTCGTCTT 0.572 NaN 0 0 0 0.00499 0 16 19 TRAF4 9618 broad.mit.edu 37 17 27076569 27076569 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:27076569G>A uc002hcs.2 + 7 1495 c.1387G>A c.(1387-1389)GAA>AAA p.E463K TRAF4_uc002hcq.1_Missense_Mutation_p.E188K NM_004295 NP_004286 Q9BUZ4 TRAF4_HUMAN TNF receptor-associated factor 4 463 apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction DNA binding|ubiquitin-protein ligase activity|WW domain binding|zinc ion binding upper_aerodigestive_tract(1)|lung(1) 2 Lung NSC(42;0.01) Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235) TGCTGCTGTTGAACTGCCCCG 0.557 NaN 0 0 0 0.00333 0 22 52 MYO18A 399687 broad.mit.edu 37 17 27438549 27438549 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:27438549G>A uc002hdt.1 - 17 2951 c.2793C>T c.(2791-2793)CAC>CAT p.H931H MYO18A_uc010wbc.1_Silent_p.H473H|MYO18A_uc002hds.2_Silent_p.H473H|MYO18A_uc010csa.1_Silent_p.H931H|MYO18A_uc002hdu.1_Silent_p.H931H|MYO18A_uc010wbd.1_Silent_p.H600H NM_078471 NP_510880 Q92614 MY18A_HUMAN myosin 18A isoform a 931 Myosin head-like. anti-apoptosis|DNA metabolic process ER-Golgi intermediate compartment|myosin complex ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity 0 Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) TGCCATGGCTGTGGCCCAGGA 0.572 NaN OREG0024287 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.00308 0 7 29 BLMH 642 broad.mit.edu 37 17 28598396 28598396 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:28598396C>T uc002hez.1 - 10 1276 c.1039G>A c.(1039-1041)GAG>AAG p.E347K BLMH_uc010wbn.1_Missense_Mutation_p.E260K NM_000386 NP_000377 Q13867 BLMH_HUMAN bleomycin hydrolase 347 proteolysis cytoplasm|nucleus aminopeptidase activity|carboxypeptidase activity|cysteine-type endopeptidase activity|protein binding ovary(1) 1 AACACTAACTCATGGTCATAG 0.413 NaN 0 0 0 0.005443 0 27 54 BLMH 642 broad.mit.edu 37 17 28601152 28601152 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:28601152C>T uc002hez.1 - 7 946 c.709G>A c.(709-711)GAC>AAC p.D237N BLMH_uc010wbn.1_Missense_Mutation_p.D150N NM_000386 NP_000377 Q13867 BLMH_HUMAN bleomycin hydrolase 237 proteolysis cytoplasm|nucleus aminopeptidase activity|carboxypeptidase activity|cysteine-type endopeptidase activity|protein binding ovary(1) 1 TTATCTTTGTCTCGATATTCC 0.438 NaN 0 0 0 0.00278 0 23 76 CPD 1362 broad.mit.edu 37 17 28770948 28770948 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:28770948C>T uc002hfb.1 + 11 2517 c.2502C>T c.(2500-2502)CTC>CTT p.L834L CPD_uc010wbo.1_Silent_p.L587L|CPD_uc010wbp.1_RNA NM_001304 NP_001295 O75976 CBPD_HUMAN carboxypeptidase D precursor 834 Extracellular (Potential).|Carboxypeptidase-like 2. proteolysis integral to membrane metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding liver(1)|skin(1) 2 ACTGGCGTCTCTTGGTTCCAG 0.448 NaN 0 0 0 0.013114 0 45 182 SUZ12 23512 broad.mit.edu 37 17 30302704 30302704 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:30302704G>A uc002hgs.2 + 7 1017 c.795G>A c.(793-795)ATG>ATA p.M265I SUZ12_uc002hgt.2_Missense_Mutation_p.M242I NM_015355 NP_056170 Q15022 SUZ12_HUMAN joined to JAZF1 265 negative regulation of cell differentiation|transcription, DNA-dependent ESC/E(Z) complex histone methyltransferase activity|methylated histone residue binding|zinc ion binding JAZF1/SUZ12(131) soft_tissue(98)|endometrium(33) 131 Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231) TTAATGGAATGATTAATGGAG 0.333 NaN T JAZF1 endometrial stromal tumours 0 0 0 0.00499 0 15 68 ZNF830 91603 broad.mit.edu 37 17 33288630 33288630 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:33288630G>A uc002hih.3 + 1 82 c.45G>A c.(43-45)GTG>GTA p.V15V CCT6B_uc002hig.2_5'Flank|CCT6B_uc010ctg.2_5'Flank|CCT6B_uc010wcc.1_5'Flank NM_052857 NP_443089 Q96NB3 ZN830_HUMAN coiled-coil domain containing 16 15 cell division|mitosis cytoplasm|nucleus metal ion binding breast(1) 1 Ovarian(249;0.17) GGAAGCGAGTGATAAATCAGG 0.557 NaN 0 0 0 0.003271 0 26 64 SLFN11 91607 broad.mit.edu 37 17 33690544 33690544 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:33690544C>T uc010ctp.2 - 4 725 c.283G>A c.(283-285)GAG>AAG p.E95K SLFN11_uc010ctq.2_Missense_Mutation_p.E95K|SLFN11_uc002hjh.3_Missense_Mutation_p.E95K|SLFN11_uc002hjg.3_Missense_Mutation_p.E95K|SLFN11_uc010ctr.2_Missense_Mutation_p.E95K NM_001104588 NP_001098058 Q7Z7L1 SLN11_HUMAN schlafen family member 11 95 nucleus ATP binding large_intestine(1)|ovary(1)|skin(1) 3 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) TGCTTGGTCTCAAAGAAAGCC 0.473 NaN 0 0 0 0.01441 0 56 60 LYZL6 57151 broad.mit.edu 37 17 34264799 34264799 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:34264799C>G uc002hkj.1 - 2 411 c.261G>C c.(259-261)AAG>AAC p.K87N LYZL6_uc002hkk.1_Missense_Mutation_p.K87N NM_020426 NP_065159 O75951 LYZL6_HUMAN lysozyme-like 6 precursor 87 cell wall macromolecule catabolic process extracellular region lysozyme activity 0 UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CCGAGTAACTCTTATAATCGT 0.473 NaN 0 0 0 0.003755 0 23 40 LHX1 3975 broad.mit.edu 37 17 35297719 35297719 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:35297719C>T uc002hnh.1 + 2 1299 c.303C>T c.(301-303)GGC>GGT p.G101G LHX1_uc010cux.1_Silent_p.G9G NM_005568 NP_005559 P48742 LHX1_HUMAN LIM homeobox protein 1 101 LIM zinc-binding 2. cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development nucleus|protein complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(25;0.00607) TCTCCACTGGCGAGGAACTCT 0.522 NaN 0 0 0 0.001984 0 6 18 ACACA 31 broad.mit.edu 37 17 35545234 35545234 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:35545234C>T uc002hnm.2 - 39 4839 c.4648G>A c.(4648-4650)GAC>AAC p.D1550N ACACA_uc002hnk.2_Missense_Mutation_p.D1472N|ACACA_uc002hnl.2_Missense_Mutation_p.D1492N|ACACA_uc002hnn.2_Missense_Mutation_p.D1550N|ACACA_uc002hno.2_Missense_Mutation_p.D1587N|ACACA_uc010cuy.2_Missense_Mutation_p.D244N NM_198836 NP_942133 Q13085 ACACA_HUMAN acetyl-Coenzyme A carboxylase alpha isoform 2 1550 acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding large_intestine(1)|ovary(1) 2 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) GTCCTGGAGTCAGTCACTTCC 0.468 NaN 0 0 0 0.005443 0 26 29 MRPL45 84311 broad.mit.edu 37 17 36476600 36476600 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:36476600G>A uc002hpy.2 + 6 761 c.609G>A c.(607-609)ATG>ATA p.M203I NM_032351 NP_115727 Q9BRJ2 RM45_HUMAN mitochondrial ribosomal protein L45 precursor 203 intracellular protein transport|translation mitochondrial inner membrane presequence translocase complex|ribosome P-P-bond-hydrolysis-driven protein transmembrane transporter activity|structural constituent of ribosome 0 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) CAAGTATGATGAACCAGGGCA 0.507 NaN 0 0 0 0.01441 0 110 114 GPR179 440435 broad.mit.edu 37 17 36486038 36486038 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 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 0.003271 0 35 42 MED1 5469 broad.mit.edu 37 17 37576107 37576107 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:37576107C>G uc002hrv.3 - 14 1372 c.1160G>C c.(1159-1161)AGT>ACT p.S387T MED1_uc010wee.1_Missense_Mutation_p.S215T|MED1_uc002hru.2_Missense_Mutation_p.S387T NM_004774 NP_004765 Q15648 MED1_HUMAN mediator complex subunit 1 387 Interaction with ESR1.|Interaction with the Mediator complex.|Interaction with the Mediator complex and THRA. 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) TCCCTGTAGACTTCGGCCATC 0.483 NaN HNSCC(31;0.082) 0 0 0 0.012319 0 23 68 WIPF2 147179 broad.mit.edu 37 17 38421182 38421182 + Missense_Mutation SNP C C A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:38421182C>A uc002hug.1 + 5 994 c.754C>A c.(754-756)CCT>ACT p.P252T WIPF2_uc002huh.1_Missense_Mutation_p.P102T|WIPF2_uc010cww.1_Missense_Mutation_p.P102T|WIPF2_uc002hui.1_Missense_Mutation_p.P252T|WIPF2_uc010cwx.1_Intron|WIPF2_uc010cwy.1_Missense_Mutation_p.P252T NM_133264 NP_573571 Q8TF74 WIPF2_HUMAN WIRE protein 252 Poly-Pro. cytoplasm|cytoskeleton actin binding upper_aerodigestive_tract(1)|ovary(1)|pancreas(1) 3 GGCTCCTCCTCCTCCGCCTTA 0.597 NaN HNSCC(43;0.11) 1 0 5.34276e-22 0.01441 5.6555e-22 44 112 KRT25 147183 broad.mit.edu 37 17 38910644 38910644 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:38910644C>G uc002hve.2 - 2 567 c.506G>C c.(505-507)AGA>ACA p.R169T NM_181534 NP_853512 Q7Z3Z0 K1C25_HUMAN keratin 25 169 Rod.|Coil 1B. cytoplasm|intermediate filament structural molecule activity ovary(2) 2 Breast(137;0.00526) TTACTTGAGTCTGAAATCATC 0.378 NaN 0 0 0 0.003954 0 23 54 KRT39 390792 broad.mit.edu 37 17 39116576 39116576 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:39116576C>G uc002hvo.1 - 6 1210 c.1174G>C c.(1174-1176)GAG>CAG p.E392Q KRT39_uc010wfm.1_Missense_Mutation_p.E125Q NM_213656 NP_998821 Q6A163 K1C39_HUMAN type I hair keratin KA35 392 Coil 2.|Rod. intermediate filament structural molecule activity 0 Breast(137;0.00043)|Ovarian(249;0.15) GTGGTAATCTCACATTCCAGC 0.468 NaN 0 0 0 0.005524 0 37 90 KRT40 125115 broad.mit.edu 37 17 39137159 39137159 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:39137159C>G uc010cxh.1 - 7 1014 c.853G>C c.(853-855)GAA>CAA p.E285Q KRT40_uc002hvq.1_RNA NM_182497 NP_872303 Q6A162 K1C40_HUMAN type I hair keratin KA36 285 Rod.|Coil 2. intermediate filament structural molecule activity 0 Breast(137;0.00043) TTCAGCTCTTCTGTCTGAAAC 0.483 NaN 0 0 0 0.01441 0 69 98 KRTAP1-5 83895 broad.mit.edu 37 17 39183285 39183285 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:39183285C>T uc002hvu.2 - 1 170 c.123G>A c.(121-123)CAG>CAA p.Q41Q NM_031957 NP_114163 Q9BYS1 KRA15_HUMAN keratin associated protein 1.5 41 15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP]. keratin filament 0 Breast(137;0.00043) STAD - Stomach adenocarcinoma(17;0.000371) AGAAGCTAGTCTGGCAGCTGC 0.607 NaN 0 0 0 0.008291 0 9 23 KRTAP1-5 83895 broad.mit.edu 37 17 39183317 39183317 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:39183317C>G uc002hvu.2 - 1 138 c.91G>C c.(91-93)GAG>CAG p.E31Q NM_031957 NP_114163 Q9BYS1 KRA15_HUMAN keratin associated protein 1.5 31 15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP]. keratin filament 0 Breast(137;0.00043) STAD - Stomach adenocarcinoma(17;0.000371) CAGCTGGTCTCACAGCAGCTT 0.597 NaN 0 0 0 0.00308 0 4 14 KRTAP1-3 81850 broad.mit.edu 37 17 39190696 39190696 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:39190696C>T uc002hvv.2 - 1 412 c.378G>A c.(376-378)GTG>GTA p.V126V NM_030966 NP_112228 Q8IUG1 KRA13_HUMAN keratin associated protein 1-3 136 extracellular region|keratin filament structural constituent of epidermis 0 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) GTGTGCAGCTCACCACACAGC 0.677 NaN 0 0 0 0.004007 0 16 16 KRT31 3881 broad.mit.edu 37 17 39551521 39551521 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:39551521G>A uc002hwn.2 - 5 905 c.852C>T c.(850-852)ATC>ATT p.I284I KRT31_uc010cxn.2_Silent_p.I284I NM_002277 NP_002268 Q15323 K1H1_HUMAN keratin 31 284 Coil 2.|Rod. epidermis development intermediate filament protein binding|structural constituent of cytoskeleton 0 Breast(137;0.000496) CCTGCAGCTCGATCTCCAGGG 0.607 NaN 0 0 0 0.003954 0 24 80 NT5C3L 115024 broad.mit.edu 37 17 39981850 39981850 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:39981850C>G uc002hyc.3 - 9 939 c.930G>C c.(928-930)GAG>GAC p.E310D NT5C3L_uc002hxx.3_Missense_Mutation_p.E175D|NT5C3L_uc010wfu.1_Missense_Mutation_p.E175D|NT5C3L_uc002hyb.3_Missense_Mutation_p.E233D|NT5C3L_uc002hyd.3_Missense_Mutation_p.E233D|NT5C3L_uc002hxy.3_Missense_Mutation_p.E268D|NT5C3L_uc002hxz.3_Missense_Mutation_p.E233D|NT5C3L_uc002hya.3_3'UTR NM_052935 NP_443167 C9JKC4 C9JKC4_HUMAN 5'-nucleotidase, cytosolic III-like 276 cytoplasm 5'-nucleotidase activity|magnesium ion binding 0 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(366;0.15) CATCCAGAGTCTCGTCCTTCT 0.637 NaN 0 0 0 0.01441 0 51 42 KLHL10 317719 broad.mit.edu 37 17 40001428 40001428 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:40001428G>A uc010cxr.2 + 3 877 c.735G>A c.(733-735)ATG>ATA p.M245I KLHL10_uc010wfv.1_Missense_Mutation_p.M239I|KLHL10_uc010wfw.1_Missense_Mutation_p.M157I NM_152467 NP_689680 Q6JEL2 KLH10_HUMAN kelch-like 10 245 cytoplasm ovary(1)|lung(1)|breast(1)|central_nervous_system(1) 4 Breast(137;0.000162) ATGTTAAGATGAATGACTATG 0.433 NaN 0 0 0 0.013537 0 13 42 ACLY 47 broad.mit.edu 37 17 40069977 40069977 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:40069977C>T uc002hyg.2 - 2 313 c.150G>A c.(148-150)CTG>CTA p.L50L ACLY_uc002hyh.2_Silent_p.L50L|ACLY_uc002hyi.2_Silent_p.L104L|ACLY_uc010wfx.1_Silent_p.L104L|ACLY_uc010wfy.1_Silent_p.L50L NM_001096 NP_001087 P53396 ACLY_HUMAN ATP citrate lyase isoform 1 50 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) CCTGGCTGAGCAGCCAGGGGT 0.582 NaN 0 0 0 0.00499 0 17 51 ACLY 47 broad.mit.edu 37 17 40070105 40070105 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:40070105C>T uc002hyg.2 - 2 185 c.22G>A c.(22-24)GAG>AAG p.E8K ACLY_uc002hyh.2_Missense_Mutation_p.E8K|ACLY_uc002hyi.2_Missense_Mutation_p.E62K|ACLY_uc010wfx.1_Missense_Mutation_p.E62K|ACLY_uc010wfy.1_Missense_Mutation_p.E8K NM_001096 NP_001087 P53396 ACLY_HUMAN ATP citrate lyase isoform 1 8 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) CCCGTCTGCTCTGAAATTGCC 0.547 NaN 0 0 0 0.004289 0 34 102 KCNH4 23415 broad.mit.edu 37 17 40323937 40323937 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:40323937G>A uc002hzb.2 - 7 1397 c.1064C>T c.(1063-1065)TCT>TTT p.S355F NM_012285 NP_036417 Q9UQ05 KCNH4_HUMAN potassium voltage-gated channel, subfamily H, 355 Cytoplasmic (Potential). regulation of transcription, DNA-dependent voltage-gated potassium channel complex two-component sensor activity|voltage-gated potassium channel activity large_intestine(1) 1 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) ACTGCACTGAGAGTACCGCTC 0.527 NaN 0 0 0 0.001984 0 7 14 STAT5B 6777 broad.mit.edu 37 17 40384031 40384031 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:40384031C>G uc002hzh.2 - 2 284 c.115G>C c.(115-117)GAA>CAA p.E39Q STAT5B_uc002hzi.3_Missense_Mutation_p.E39Q NM_012448 NP_036580 P51692 STA5B_HUMAN signal transducer and activator of transcription 39 2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cytosol|nucleoplasm calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity ovary(3)|lung(2)|skin(1) 6 all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.135) Dasatinib(DB01254) GCTTGGCTTTCAATCCACTGG 0.423 NaN 0 0 0 0.01441 0 50 55 NAGLU 4669 broad.mit.edu 37 17 40689536 40689536 + Nonsense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:40689536G>A uc002hzv.2 + 2 844 c.504G>A c.(502-504)TGG>TGA p.W168* NM_000263 NP_000254 P54802 ANAG_HUMAN alpha-N-acetylglucosaminidase precursor 168 lysosome alpha-N-acetylglucosaminidase activity 0 all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344) BRCA - Breast invasive adenocarcinoma(366;0.13) N-Acetyl-D-glucosamine(DB00141) CACTGGCCTGGAGCGGCCAGG 0.647 NaN 0 0 0 0.008291 0 11 35 PLEKHH3 79990 broad.mit.edu 37 17 40828484 40828484 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:40828484C>T uc002iau.2 - 1 565 c.98G>A c.(97-99)GGG>GAG p.G33E PLEKHH3_uc002iat.1_5'Flank|PLEKHH3_uc002iav.2_RNA|PLEKHH3_uc010cym.1_5'UTR|PLEKHH3_uc002iaw.2_Missense_Mutation_p.G33E NM_024927 NP_079203 Q7Z736 PKHH3_HUMAN pleckstrin homology domain containing, family H 33 signal transduction cytoskeleton large_intestine(1)|ovary(1) 2 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.14) GTCCTCGTCCCCGTCCCCGCT 0.672 NaN 0 0 0 0.009096 0 4 9 AARSD1 80755 broad.mit.edu 37 17 41116252 41116252 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:41116252G>A uc002icc.2 - 2 45 c.42C>T c.(40-42)TTC>TTT p.F14F AARSD1_uc002icd.2_Silent_p.F127F|AARSD1_uc002ice.2_Silent_p.F97F|AARSD1_uc002icf.2_Silent_p.F188F|AARSD1_uc010whg.1_Silent_p.F188F|AARSD1_uc010cyu.1_Silent_p.F14F NM_025267 NP_079543 Q9BTE6 AASD1_HUMAN alanyl-tRNA synthetase domain containing 1 14 alanyl-tRNA aminoacylation cytoplasm alanine-tRNA ligase activity|ATP binding|metal ion binding|nucleic acid binding 0 Breast(137;0.00499) BRCA - Breast invasive adenocarcinoma(366;0.161) CGGTGGTGGTGAACTGAACAG 0.468 NaN 0 0 0 0.001855 0 14 31 ATXN7L3 56970 broad.mit.edu 37 17 42274334 42274334 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:42274334G>A uc002iga.2 - 4 508 c.417C>T c.(415-417)ATC>ATT p.I139I ATXN7L3_uc010wiv.1_5'Flank|ATXN7L3_uc002ifz.2_Silent_p.I139I NM_001098833 NP_001092303 Q14CW9 AT7L3_HUMAN ataxin 7-like 3 isoform b 139 histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent SAGA complex ligand-dependent nuclear receptor transcription coactivator activity|metal ion binding|protein binding 0 Breast(137;0.00765)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.113) CGTTGTCATTGATGTCATCAT 0.512 NaN 0 0 0 0.01441 0 41 97 GPATCH8 23131 broad.mit.edu 37 17 42513873 42513873 + Silent SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:42513873G>C uc002igw.1 - 4 298 c.234C>G c.(232-234)GTC>GTG p.V78V GPATCH8_uc002igv.1_5'UTR|GPATCH8_uc010wiz.1_5'UTR NM_001002909 NP_001002909 Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 78 G-patch. intracellular nucleic acid binding|zinc ion binding ovary(2)|kidney(1)|skin(1) 4 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) CCATGCCCATGACATCATACT 0.373 NaN 0 0 0 0.013114 0 45 60 C17orf104 284071 broad.mit.edu 37 17 42745073 42745073 + Silent SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:42745073G>C uc010czv.2 + 5 1794 c.1794G>C c.(1792-1794)GGG>GGC p.G598G C17orf104_uc002igy.1_Silent_p.G432G|C17orf104_uc002igz.3_Silent_p.G432G|C17orf104_uc010wja.1_RNA|C17orf104_uc002iha.2_Silent_p.G432G NM_001145080 NP_001138552 A2RUB1 CQ104_HUMAN hypothetical protein LOC284071 598 central_nervous_system(1) 1 AGAAGTATGGGATAATTGAAA 0.353 NaN 0 0 0 0.000602 0 5 30 C17orf104 284071 broad.mit.edu 37 17 42745351 42745351 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:42745351G>A uc010czv.2 + 5 2072 c.2072G>A c.(2071-2073)AGA>AAA p.R691K C17orf104_uc002igy.1_Missense_Mutation_p.R525K|C17orf104_uc002igz.3_Missense_Mutation_p.R525K|C17orf104_uc010wja.1_RNA|C17orf104_uc002iha.2_Missense_Mutation_p.R525K NM_001145080 NP_001138552 A2RUB1 CQ104_HUMAN hypothetical protein LOC284071 691 central_nervous_system(1) 1 TTTCCCCTAAGATCCACCCAC 0.368 NaN 0 0 0 0.000602 0 5 27 HEXIM1 10614 broad.mit.edu 37 17 43226866 43226866 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:43226866C>T uc002iig.2 + 1 2183 c.309C>T c.(307-309)TTC>TTT p.F103F NM_006460 NP_006451 O94992 HEXI1_HUMAN hexamethylene bis-acetamide inducible 1 103 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 GCGGCGACTTCCCGCCGCCGG 0.672 NaN OREG0024474 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.001984 0 5 8 PLEKHM1 9842 broad.mit.edu 37 17 43545870 43545870 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:43545870G>A uc002ija.2 - 5 1183 c.1013C>T c.(1012-1014)TCG>TTG p.S338L PLEKHM1_uc010wjm.1_Missense_Mutation_p.S310L|PLEKHM1_uc002ijb.2_Intron|PLEKHM1_uc010wjn.1_Missense_Mutation_p.S287L NM_014798 NP_055613 Q9Y4G2 PKHM1_HUMAN pleckstrin homology domain containing, family M 338 intracellular signal transduction cytoplasm metal ion binding 0 Renal(3;0.0405) GAGGGAGAGCGAGGCCTGTGG 0.552 NaN 0 0 0 0.00632 0 28 30 OSBPL7 114881 broad.mit.edu 37 17 45891976 45891976 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:45891976G>A uc002ilx.1 - 14 1465 c.1262C>T c.(1261-1263)TCA>TTA p.S421L OSBPL7_uc002ilw.1_5'UTR NM_145798 NP_665741 Q9BZF2 OSBL7_HUMAN oxysterol-binding protein-like protein 7 421 lipid transport lipid binding 0 CTCCTCCTCTGAGCCCTGGGC 0.642 NaN 0 0 0 0.001168 0 6 22 HOXB13 10481 broad.mit.edu 37 17 46805665 46805665 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:46805665C>T uc002ioa.2 - 1 447 c.291G>A c.(289-291)CTG>CTA p.L97L NM_006361 NP_006352 Q92826 HXB13_HUMAN homeobox B13 97 angiogenesis|epidermis development|response to wounding sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 CACAGGGTTTCAGCGAGCTCC 0.672 NaN 0 0 0 0.009718 0 39 46 SNF8 11267 broad.mit.edu 37 17 47022045 47022045 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:47022045C>T uc002ioj.2 - 1 110 c.52G>A c.(52-54)GAG>AAG p.E18K SNF8_uc002iok.2_Missense_Mutation_p.E18K NM_007241 NP_009172 Q96H20 SNF8_HUMAN EAP30 subunit of ELL complex 18 cellular membrane organization|endosome transport|protein transport|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytosol|late endosome membrane|transcription factor complex transcription factor binding 0 CTGCTCACCTCTGCAAGTTTC 0.512 NaN 0 0 0 0.01441 0 48 132 EPN3 55040 broad.mit.edu 37 17 48618874 48618874 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:48618874G>A uc002ira.3 + 9 1839 c.1404G>A c.(1402-1404)ACG>ACA p.T468T SPATA20_uc002irc.2_5'Flank|EPN3_uc010wms.1_Silent_p.T496T|EPN3_uc010wmt.1_RNA|EPN3_uc010wmu.1_Silent_p.T441T NM_017957 NP_060427 Q9H201 EPN3_HUMAN epsin 3 468 clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm lipid binding ovary(1) 1 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;2.88e-09) AAAATGGCACGAAGGAGCCAG 0.582 NaN 0 0 0 0.004482 0 9 41 WFIKKN2 124857 broad.mit.edu 37 17 48917453 48917453 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:48917453C>T uc002isv.3 + 2 1498 c.804C>T c.(802-804)AAC>AAT p.N268N WFIKKN2_uc010dbu.2_Silent_p.N175N NM_175575 NP_783165 Q8TEU8 WFKN2_HUMAN WFIKKN2 protein 268 Ig-like C2-type. 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) TGGTCACCAACATTGCCCAGC 0.627 NaN 0 0 0 0.00499 0 18 34 SCPEP1 59342 broad.mit.edu 37 17 55058443 55058443 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:55058443G>A uc002iuv.3 + 2 130 c.77G>A c.(76-78)GGA>GAA p.G26E SCPEP1_uc010dcl.2_RNA|SCPEP1_uc010wnk.1_Intron NM_021626 NP_067639 Q9HB40 RISC_HUMAN serine carboxypeptidase 1 precursor 26 proteolysis extracellular region serine-type carboxypeptidase activity skin(1) 1 Breast(9;2.86e-08) TCTGTTTCAGGAGCTGTCATT 0.483 NaN 0 0 0 0.012319 0 22 15 SCPEP1 59342 broad.mit.edu 37 17 55074400 55074400 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:55074400C>G uc002iuv.3 + 9 917 c.864C>G c.(862-864)TTC>TTG p.F288L SCPEP1_uc010dcl.2_RNA|SCPEP1_uc010wnk.1_Missense_Mutation_p.F238L NM_021626 NP_067639 Q9HB40 RISC_HUMAN serine carboxypeptidase 1 precursor 288 proteolysis extracellular region serine-type carboxypeptidase activity skin(1) 1 Breast(9;2.86e-08) GTCTAGAATTCACACAGAGCC 0.363 NaN 0 0 0 0.00245 0 13 54 MSI2 124540 broad.mit.edu 37 17 55693406 55693406 + Missense_Mutation SNP T T C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:55693406T>C uc002iuz.1 + 9 786 c.613T>C c.(613-615)TAC>CAC p.Y205H MSI2_uc010wnm.1_Missense_Mutation_p.Y183H|MSI2_uc002iva.2_Missense_Mutation_p.Y201H NM_138962 NP_620412 Q96DH6 MSI2H_HUMAN musashi 2 isoform a 205 cytoplasm nucleotide binding|RNA binding central_nervous_system(1)|pancreas(1) 2 Breast(9;1.78e-08) GBM - Glioblastoma multiforme(1;0.0025) GGGACTGCCTTACACCATGGA 0.463 NaN T HOXA9 CML 0 0 0 0.00623 0 36 106 BZRAP1 9256 broad.mit.edu 37 17 56388949 56388949 + Missense_Mutation SNP A A C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:56388949A>C uc002ivx.3 - 18 3935 c.3064T>G c.(3064-3066)TAC>GAC p.Y1022D BZRAP1_uc010dcs.2_Missense_Mutation_p.Y962D|BZRAP1_uc010wnt.1_Missense_Mutation_p.Y1022D NM_004758 NP_004749 O95153 RIMB1_HUMAN peripheral benzodiazepine receptor-associated 1022 Fibronectin type-III 3. mitochondrion benzodiazepine receptor binding upper_aerodigestive_tract(2)|skin(1) 3 Medulloblastoma(34;0.127)|all_neural(34;0.237) CCATCAGCGTAGATGGCATAG 0.602 NaN 0 0 0 0.00245 0 15 41 SUPT4H1 6827 broad.mit.edu 37 17 56428800 56428800 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:56428800C>T uc002iwe.1 - 2 206 c.139G>A c.(139-141)GAG>AAG p.E47K uc010dct.1_Intron|uc010dcu.1_Intron|uc002ivz.2_Intron|uc010dcv.1_Intron|uc002iwa.2_Intron|uc002iwb.2_Intron|uc002iwc.2_Intron|SUPT4H1_uc002iwd.1_RNA NM_003168 NP_003159 P63272 SPT4H_HUMAN suppressor of Ty 4 homolog 1 47 chromatin remodeling|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(2) 2 Medulloblastoma(34;0.127)|all_neural(34;0.237) TATACCATCTCTCGGTTACCC 0.408 NaN 0 0 0 0.004656 0 26 115 HSF5 124535 broad.mit.edu 37 17 56565211 56565211 + Missense_Mutation SNP A A C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:56565211A>C uc002iwi.1 - 1 549 c.425T>G c.(424-426)CTG>CGG p.L142R NM_001080439 NP_001073908 Q4G112 HSF5_HUMAN heat shock transcription factor family member 5 142 By similarity. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|skin(1) 3 Medulloblastoma(34;0.127)|all_neural(34;0.237) GGGCACCTCCAGGCCGGCCGC 0.662 NaN 0 0 0 0.004672 0 2 0 C17orf47 284083 broad.mit.edu 37 17 56620915 56620915 + Silent SNP C C T rs139661038 TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:56620915C>T uc002iwq.1 - 1 769 c.633G>A c.(631-633)ACG>ACA p.T211T SEPT4_uc010wnx.1_5'Flank|SEPT4_uc010wny.1_5'Flank NM_001038704 NP_001033793 Q8NEP4 CQ047_HUMAN hypothetical protein LOC284083 211 breast(1) 1 Medulloblastoma(34;0.127)|all_neural(34;0.237) CACTAGTAGTCGTAATTCTTT 0.512 NaN 0 0 0 0.01441 0 48 140 TEX14 56155 broad.mit.edu 37 17 56650602 56650602 + Missense_Mutation SNP A A C rs140397968 TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:56650602A>C uc010dcz.1 - 24 3707 c.3589T>G c.(3589-3591)TCA>GCA p.S1197A TEX14_uc002iwr.1_Missense_Mutation_p.S1191A|TEX14_uc002iws.1_Missense_Mutation_p.S1151A|TEX14_uc010dda.1_Missense_Mutation_p.S931A NM_198393 NP_938207 Q8IWB6 TEX14_HUMAN testis expressed sequence 14 isoform a 1197 cytoplasm ATP binding|protein kinase activity stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1) 17 Medulloblastoma(34;0.127)|all_neural(34;0.237) GTTTTGCATGAAGCTTCCTTA 0.428 NaN 0 0 0 0.01441 0 60 214 BCAS3 54828 broad.mit.edu 37 17 59067592 59067592 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:59067592G>A uc002iyv.3 + 15 1591 c.1482G>A c.(1480-1482)TTG>TTA p.L494L BCAS3_uc010wow.1_Silent_p.L281L|BCAS3_uc002iyu.3_Silent_p.L494L|BCAS3_uc002iyw.3_Silent_p.L490L|BCAS3_uc002iyx.1_Silent_p.L309L|BCAS3_uc002iyy.3_Silent_p.L265L|BCAS3_uc002iyz.3_Silent_p.L48L|BCAS3_uc002iza.3_Silent_p.L48L NM_001099432 NP_001092902 Q9H6U6 BCAS3_HUMAN breast carcinoma amplified sequence 3 isoform 1 494 nucleus ovary(2)|central_nervous_system(2)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06) GGTCACCCTTGCATGGTAATT 0.438 NaN 0 0 0 0.014323 0 21 52 MED13 9969 broad.mit.edu 37 17 60088352 60088352 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:60088352G>A uc002izo.2 - 9 1603 c.1526C>T c.(1525-1527)TCA>TTA p.S509L MED13_uc002izp.2_Missense_Mutation_p.S125L NM_005121 NP_005112 Q9UHV7 MED13_HUMAN mediator complex subunit 13 509 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 TCGGATATTTGAAAATCTCAC 0.463 NaN 0 0 0 0.00632 0 26 86 LRRC37A3 374819 broad.mit.edu 37 17 62892235 62892235 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:62892235C>T uc002jey.2 - 3 1672 c.1141G>A c.(1141-1143)GAG>AAG p.E381K LRRC37A3_uc010wqg.1_Intron|LRRC37A3_uc010wqf.1_Intron NM_199340 NP_955372 O60309 L37A3_HUMAN leucine rich repeat containing 37, member A3 381 Extracellular (Potential). integral to membrane 0 CCTGGGGTCTCCTGCTGGGTC 0.517 NaN 0 0 0 0.01441 0 82 153 SLC16A6 9120 broad.mit.edu 37 17 66267782 66267782 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:66267782C>T uc002jgz.1 - 5 707 c.519G>A c.(517-519)CTG>CTA p.L173L ARSG_uc002jhc.2_Intron|SLC16A6_uc002jha.1_Silent_p.L173L NM_004694 NP_004685 O15403 MOT7_HUMAN solute carrier family 16, member 6 173 Extracellular (Potential). integral to plasma membrane|membrane fraction monocarboxylic acid transmembrane transporter activity|symporter activity 0 all_cancers(12;1.24e-09) BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24) Pyruvic acid(DB00119) TGCGCTCCTTCAGAGCCATGA 0.448 NaN 0 0 0 0.008361 0 25 24 ABCA10 10349 broad.mit.edu 37 17 67149526 67149526 + Silent SNP C C A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:67149526C>A uc010dfa.1 - 35 4935 c.4056G>T c.(4054-4056)CTG>CTT p.L1352L ABCA10_uc002jhz.2_5'Flank|ABCA10_uc010wqs.1_Silent_p.L344L|ABCA10_uc010wqt.1_RNA NM_080282 NP_525021 Q8WWZ4 ABCAA_HUMAN ATP-binding cassette, sub-family A, member 10 1352 ABC transporter 2. transport integral to membrane ATP binding|ATPase activity ovary(2)|central_nervous_system(1)|skin(1) 4 Breast(10;6.95e-12) CCAGGATGCTCAGCACAAAGC 0.562 NaN 1 0 4.11147e-13 0.003755 4.30386e-13 36 110 ABCA10 10349 broad.mit.edu 37 17 67170479 67170479 + Silent SNP T T C rs143503638 byFrequency TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:67170479T>C uc010dfa.1 - 26 3984 c.3105A>G c.(3103-3105)TCA>TCG p.S1035S ABCA10_uc010wqs.1_Silent_p.S27S|ABCA10_uc010wqt.1_RNA NM_080282 NP_525021 Q8WWZ4 ABCAA_HUMAN ATP-binding cassette, sub-family A, member 10 1035 transport integral to membrane ATP binding|ATPase activity ovary(2)|central_nervous_system(1)|skin(1) 4 Breast(10;6.95e-12) GAAAGATGAATGAAAGCACAT 0.338 NaN 0 0 0 0.003755 0 32 130 SOX9 6662 broad.mit.edu 37 17 70119040 70119040 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:70119040C>T uc002jiw.2 + 2 984 c.612C>T c.(610-612)TTC>TTT p.F204F uc002jiv.2_5'Flank NM_000346 NP_000337 P48436 SOX9_HUMAN transcription factor SOX9 204 cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction nucleus|protein complex core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription 0 Colorectal(1115;0.245) STAD - Stomach adenocarcinoma(260;0.119) ACGCCATCTTCAAGGCGCTGC 0.677 NaN 0 0 0 0.00623 0 35 39 ICT1 3396 broad.mit.edu 37 17 73016661 73016661 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:73016661G>A uc002jmm.2 + 5 447 c.445G>A c.(445-447)GAT>AAT p.D149N NM_001545 NP_001536 Q14197 ICT1_HUMAN immature colon carcinoma transcript 1 precursor 149 mitochondrial translational termination mitochondrial large ribosomal subunit aminoacyl-tRNA hydrolase activity|translation release factor activity, codon nonspecific ovary(1)|central_nervous_system(1) 2 all_lung(278;0.226) GAATCTGGCAGATTGCCTGCA 0.453 NaN 0 0 0 0.004007 0 14 41 SRP68 6730 broad.mit.edu 37 17 74053483 74053483 + Splice_Site SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:74053483C>T uc002jqk.1 - 8 1013 c.978_splice c.e8+1 p.Q326_splice SRP68_uc010wsu.1_Splice_Site_p.Q225_splice|SRP68_uc002jql.1_Splice_Site_p.Q288_splice NM_014230 NP_055045 Q9UHB9 SRP68_HUMAN signal recognition particle 68kDa response to drug cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting RNA binding|signal recognition particle binding ovary(1) 1 TTCCTCCTCACCTGGACAATA 0.448 NaN 0 0 0 0.010504 0 20 43 CBX2 84733 broad.mit.edu 37 17 77758613 77758613 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:77758613G>A uc002jxc.2 + 5 1413 c.1371G>A c.(1369-1371)GAG>GAA p.E457E NM_005189 NP_005180 Q14781 CBX2_HUMAN chromobox homolog 2 isoform 1 457 cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent PcG protein complex DNA binding 0 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) CACTGCCAGAGATGAGCGCAG 0.672 NaN 0 0 0 0.001168 0 4 8 CBX8 57332 broad.mit.edu 37 17 77770064 77770064 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:77770064G>A uc002jxd.1 - 3 257 c.164C>T c.(163-165)GCA>GTA p.A55V NM_020649 NP_065700 Q9HC52 CBX8_HUMAN chromobox homolog 8 55 Chromo. negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear chromatin|PcG protein complex methylated histone residue binding 0 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) CTCAAAGGCTGCGAGCAAGCG 0.532 NaN 0 0 0 0.01441 0 118 106 CCDC40 55036 broad.mit.edu 37 17 78039319 78039319 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:78039319G>C uc010dht.2 + 10 1503 c.1476G>C c.(1474-1476)AAG>AAC p.K492N CCDC40_uc010wub.1_Intron|CCDC40_uc002jxm.3_Missense_Mutation_p.K275N NM_017950 NP_060420 Q4G0X9 CCD40_HUMAN coiled-coil domain containing 40 492 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) GCGTGGAGAAGAGGCGCATCA 0.632 NaN 0 0 0 0.001855 0 14 54 ACTG1 71 broad.mit.edu 37 17 79478272 79478272 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:79478272G>A uc002kaj.1 - 3 769 c.744C>T c.(742-744)ATC>ATT p.I248I ACTG1_uc002kah.1_Silent_p.I126I|ACTG1_uc002kai.1_Silent_p.I205I|ACTG1_uc002kak.1_Silent_p.I248I|ACTG1_uc010wun.1_Silent_p.I248I|ACTG1_uc002kal.1_Silent_p.I248I|ACTG1_uc002kag.2_RNA NM_001614 NP_001605 P63261 ACTG_HUMAN actin, gamma 1 propeptide 248 adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement cytoskeleton|cytosol ATP binding|identical protein binding ovary(1)|central_nervous_system(1) 2 all_neural(118;0.0878)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547) TGCCAATGGTGATGACCTGGC 0.587 NaN 0 0 0 0.01441 0 50 75 FSCN2 25794 broad.mit.edu 37 17 79503670 79503670 + Silent SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:79503670C>G uc010wup.1 + 4 1269 c.1128C>G c.(1126-1128)CTC>CTG p.L376L FSCN2_uc010wuo.1_Silent_p.L400L NM_012418 NP_036550 O14926 FSCN2_HUMAN fascin 2 isoform 1 376 actin filament bundle assembly|anatomical structure morphogenesis|visual perception actin cytoskeleton|cytoplasm|stereocilium actin filament binding|protein binding, bridging 0 all_neural(118;0.0878)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371) AGTTCACCCTCAAGCTCATCA 0.701 NaN 0 0 0 0.000602 0 2 2 P4HB 5034 broad.mit.edu 37 17 79803467 79803467 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:79803467G>A uc002kbn.1 - 9 1526 c.1329C>T c.(1327-1329)CTC>CTT p.L443L P4HB_uc002kbl.1_Silent_p.L120L|P4HB_uc002kbm.1_Silent_p.L120L NM_000918 NP_000909 P07237 PDIA1_HUMAN prolyl 4-hydroxylase, beta subunit precursor 443 Thioredoxin 2. cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity 0 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509) GAAAGAACTTGAGTGTGGGGA 0.622 NaN 0 0 0 0.010729 0 11 11 DUS1L 64118 broad.mit.edu 37 17 80018633 80018633 + Silent SNP C C T rs150777513 TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:80018633C>T uc002kdq.2 - 9 1385 c.966G>A c.(964-966)GCG>GCA p.A322A DUS1L_uc002kdp.2_Silent_p.A191A|DUS1L_uc002kdr.2_Silent_p.A322A|DUS1L_uc002kds.2_RNA|DUS1L_uc002kdt.2_RNA NM_022156 NP_071439 Q6P1R4 DUS1L_HUMAN PP3111 protein 322 tRNA processing flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity skin(1) 1 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211) CGGTGGGCTTCGCTCCCTCCT 0.687 NaN 0 0 0 0.000602 0 5 11 DUS1L 64118 broad.mit.edu 37 17 80018637 80018637 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:80018637C>T uc002kdq.2 - 9 1381 c.962G>A c.(961-963)GGA>GAA p.G321E DUS1L_uc002kdp.2_Missense_Mutation_p.G190E|DUS1L_uc002kdr.2_Missense_Mutation_p.G321E|DUS1L_uc002kds.2_RNA|DUS1L_uc002kdt.2_RNA NM_022156 NP_071439 Q6P1R4 DUS1L_HUMAN PP3111 protein 321 tRNA processing flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity skin(1) 1 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211) GGGCTTCGCTCCCTCCTGCCT 0.692 NaN 0 0 0 0.000602 0 5 10 DUS1L 64118 broad.mit.edu 37 17 80019230 80019230 + Splice_Site SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:80019230C>G uc002kdq.2 - 7 1117 c.698_splice c.e7-1 p.E233_splice DUS1L_uc002kdp.2_Splice_Site_p.E102_splice|DUS1L_uc002kdr.2_Splice_Site_p.E233_splice|DUS1L_uc002kds.2_Splice_Site|DUS1L_uc002kdt.2_Splice_Site|DUS1L_uc010wvi.1_Intron NM_022156 NP_071439 Q6P1R4 DUS1L_HUMAN PP3111 protein tRNA processing flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity skin(1) 1 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211) AGGTTGCCCTCTGTGGGAGGA 0.667 NaN 0 0 0 0.001168 0 5 24 WDR45L 56270 broad.mit.edu 37 17 80574488 80574488 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:80574488G>A uc002kfq.2 - 9 1035 c.840C>T c.(838-840)TTC>TTT p.F280F WDR45L_uc002kfr.2_RNA NM_019613 NP_062559 Q5MNZ6 WIPI3_HUMAN WDR45-like 280 autophagy|response to starvation organelle membrane phosphatidylinositol-3,5-bisphosphate binding ovary(1) 1 Breast(20;0.00106)|all_neural(118;0.0952) all_cancers(8;0.101)|all_epithelial(8;0.198) BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.0835) ACTTGGAACTGAAGTATTTTG 0.463 NaN 0 0 0 0.005443 0 27 88 LPIN2 9663 broad.mit.edu 37 18 2920390 2920390 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr18:2920390G>A uc002klo.2 - 20 2831 c.2592C>T c.(2590-2592)CTC>CTT p.L864L NM_014646 NP_055461 Q92539 LPIN2_HUMAN lipin 2 864 fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process cytosol|endoplasmic reticulum membrane|nucleus phosphatidate phosphatase activity|transcription coactivator activity ovary(1)|skin(1) 2 READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156) GCTCCTTACTGAGAAGGGGGA 0.537 NaN 0 0 0 0.007413 0 17 28 DLGAP1 9229 broad.mit.edu 37 18 3814113 3814113 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr18:3814113C>T uc002kmf.2 - 2 1185 c.1118G>A c.(1117-1119)AGA>AAA p.R373K DLGAP1_uc010wyz.1_Missense_Mutation_p.R373K|DLGAP1_uc002kme.1_Missense_Mutation_p.R71K|DLGAP1_uc010dkn.2_Missense_Mutation_p.R71K|DLGAP1_uc010wyw.1_Missense_Mutation_p.R79K|DLGAP1_uc010wyx.1_Missense_Mutation_p.R85K|DLGAP1_uc010wyy.1_Missense_Mutation_p.R85K|DLGAP1_uc002kmg.2_Missense_Mutation_p.R71K|DLGAP1_uc002kmk.2_Missense_Mutation_p.R373K NM_004746 NP_004737 O14490 DLGP1_HUMAN discs large homolog-associated protein 1 isoform 373 synaptic transmission cell junction|postsynaptic density|postsynaptic membrane ovary(2)|pancreas(1)|skin(1) 4 Colorectal(8;0.0257) ATAGCTTTCTCTCCGCGCAGC 0.507 NaN 0 0 0 0.01441 0 51 33 KIAA0802 23255 broad.mit.edu 37 18 8824703 8824703 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr18:8824703G>A uc002knr.2 + 15 3337 c.3195G>A c.(3193-3195)GTG>GTA p.V1065V KIAA0802_uc002knq.2_Silent_p.V1024V|KIAA0802_uc002kns.2_Silent_p.V405V NM_015210 NP_056025 Q9Y4B5 CC165_HUMAN hypothetical protein LOC23255 1375 0 CCAGGGCGGTGTCCGTGTCCT 0.587 NaN 0 0 0 0.003163 0 15 8 RALBP1 10928 broad.mit.edu 37 18 9522255 9522255 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr18:9522255G>A uc002kob.2 + 4 1024 c.801G>A c.(799-801)CTG>CTA p.L267L RALBP1_uc002koc.2_Silent_p.L267L NM_006788 NP_006779 Q15311 RBP1_HUMAN ralA binding protein 1 267 Rho-GAP. chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport cytosol|membrane ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding central_nervous_system(1) 1 CCAGTTTGCTGAAGCAGTATT 0.463 NaN 0 0 0 0.00499 0 16 53 RBBP8 5932 broad.mit.edu 37 18 20606179 20606179 + Silent SNP A A C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr18:20606179A>C uc002ktw.2 + 19 3001 c.2670A>C c.(2668-2670)CCA>CCC p.P890P RBBP8_uc002kty.2_Silent_p.P890P|RBBP8_uc002ktz.2_Missense_Mutation_p.Q858P|RBBP8_uc002kua.2_Silent_p.P895P|RBBP8_uc010xap.1_Silent_p.P228P NM_002894 NP_002885 Q99708 COM1_HUMAN retinoblastoma binding protein 8 isoform a 890 cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter nucleus damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity ovary(1)|lung(1)|skin(1) 3 all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19) OV - Ovarian serous cystadenocarcinoma(1;0.00196) TATTTTCTCCAAAAGGCAAGG 0.348 NaN Direct_reversal_of_damage|Homologous_recombination 0 0 0 0.012213 0 30 21 NPC1 4864 broad.mit.edu 37 18 21148935 21148935 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr18:21148935C>T uc002kum.3 - 4 589 c.315G>A c.(313-315)CTG>CTA p.L105L NPC1_uc010xba.1_5'UTR NM_000271 NP_000262 O15118 NPC1_HUMAN Niemann-Pick disease, type C1 precursor 105 autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm hedgehog receptor activity|protein binding|sterol transporter activity ovary(2) 2 all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127) AAAACAGGTTCAGTAGGTTAT 0.368 NaN 0 0 0 0.007413 0 20 50 LAMA3 3909 broad.mit.edu 37 18 21479265 21479265 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr18:21479265G>C uc002kuq.2 + 47 5936 c.5850G>C c.(5848-5850)CAG>CAC p.Q1950H LAMA3_uc002kur.2_Intron|LAMA3_uc002kus.3_Missense_Mutation_p.Q341H|LAMA3_uc002kut.3_Intron NM_198129 NP_937762 Q16787 LAMA3_HUMAN laminin alpha 3 subunit isoform 1 1950 Domain II and I. 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) TTTTAAAGCAGATCTCTGGGA 0.458 NaN 0 0 0 0.013537 0 11 30 TAF4B 6875 broad.mit.edu 37 18 23866219 23866219 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr18:23866219C>T uc002kvu.3 + 7 1835 c.1346C>T c.(1345-1347)TCA>TTA p.S449L TAF4B_uc002kvs.3_RNA|TAF4B_uc002kvt.3_Missense_Mutation_p.S449L NM_005640 NP_005631 Q92750 TAF4B_HUMAN TAF4b RNA polymerase II, TATA box binding 449 transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|nucleolus|transcription factor TFIID complex DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity lung(1)|central_nervous_system(1)|skin(1) 3 all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124) Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267) ACCACGGTCTCACTGCAACCT 0.488 NaN 0 0 0 0.00333 0 25 37 TTR 7276 broad.mit.edu 37 18 29171903 29171903 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr18:29171903G>A uc002kwx.3 + 1 174 c.38G>A c.(37-39)GGA>GAA p.G13E NM_000371 NP_000362 P02766 TTHY_HUMAN transthyretin precursor 13 transport cytoplasm hormone activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(10;0.00523) Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diflunisal(DB00861)|Dimethyl sulfoxide(DB01093)|Levothyroxine(DB00451)|Liothyronine(DB00279) TGCCTTGCTGGACTGGTATTT 0.493 NaN 0 0 0 0.006122 0 17 31 KIAA1012 22878 broad.mit.edu 37 18 29419348 29419348 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr18:29419348C>T uc002kxc.3 - 27 4274 c.3910G>A c.(3910-3912)GAG>AAG p.E1304K KIAA1012_uc002kxb.3_Missense_Mutation_p.E1250K|KIAA1012_uc002kxd.3_RNA NM_014939 NP_055754 Q9Y2L5 TPPC8_HUMAN hypothetical protein LOC22878 1304 ER to Golgi vesicle-mediated transport cis-Golgi network 0 GAAAGCTGCTCTACTGATGGC 0.348 NaN 0 0 0 0.004656 0 27 56 RNF125 54941 broad.mit.edu 37 18 29617112 29617112 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr18:29617112G>A uc002kxf.1 + 2 580 c.198G>A c.(196-198)AAG>AAA p.K66K NM_017831 NP_060301 Q96EQ8 RN125_HUMAN ring finger protein 125 66 RING-type. negative regulation of type I interferon production intracellular ligase activity|zinc ion binding 0 CCAGTCTAAAGAACAACAAGT 0.423 NaN 0 0 0 0.01441 0 83 147 NOL4 8715 broad.mit.edu 37 18 31523073 31523073 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr18:31523073C>T uc010dmi.2 - 9 1727 c.1498G>A c.(1498-1500)GAG>AAG p.E500K NOL4_uc010xbs.1_Missense_Mutation_p.E215K|NOL4_uc002kxr.3_Missense_Mutation_p.E272K|NOL4_uc010xbt.1_Missense_Mutation_p.E426K|NOL4_uc010dmh.2_Missense_Mutation_p.E362K|NOL4_uc010xbu.1_Missense_Mutation_p.E436K|NOL4_uc002kxt.3_Intron|NOL4_uc010xbv.1_Missense_Mutation_p.E185K NM_003787 NP_003778 O94818 NOL4_HUMAN nucleolar protein 4 500 nucleolus RNA binding ovary(3) 3 TTTCTACTCTCACTCTCACAA 0.428 NaN 0 0 0 0.010504 0 21 32 DTNA 1837 broad.mit.edu 37 18 32391936 32391936 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr18:32391936G>A uc010dmn.1 + 5 463 c.462G>A c.(460-462)ATG>ATA p.M154I DTNA_uc002kxu.2_Missense_Mutation_p.M154I|DTNA_uc010xbx.1_Missense_Mutation_p.M154I|DTNA_uc002kxv.3_Missense_Mutation_p.M154I|DTNA_uc002kxw.2_Missense_Mutation_p.M154I|DTNA_uc002kxx.2_Missense_Mutation_p.M154I|DTNA_uc010dmj.2_Missense_Mutation_p.M154I|DTNA_uc002kxz.2_Missense_Mutation_p.M154I|DTNA_uc002kxy.2_Missense_Mutation_p.M154I|DTNA_uc010dmk.1_RNA|DTNA_uc010dml.2_Missense_Mutation_p.M154I|DTNA_uc002kyb.3_Missense_Mutation_p.M154I|DTNA_uc010dmm.2_Missense_Mutation_p.M154I NM_001390 NP_001381 Q9Y4J8 DTNA_HUMAN dystrobrevin alpha isoform 1 154 Interaction with MAGEE1 (By similarity). neuromuscular synaptic transmission|signal transduction|striated muscle contraction cell junction|cytoplasm|synapse calcium ion binding|protein binding|zinc ion binding 0 TTTTCTCAATGATTTCTGACT 0.368 NaN 0 0 0 0.00333 0 21 43 ELP2 55250 broad.mit.edu 37 18 33722249 33722249 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr18:33722249G>C uc002kzk.1 + 7 604 c.594G>C c.(592-594)CAG>CAC p.Q198H ELP2_uc010xcg.1_Missense_Mutation_p.Q263H|ELP2_uc002kzl.1_RNA|ELP2_uc002kzm.1_Missense_Mutation_p.Q172H|ELP2_uc010xch.1_Missense_Mutation_p.Q237H|ELP2_uc002kzn.1_Missense_Mutation_p.Q172H|ELP2_uc002kzo.1_Intron NM_018255 NP_060725 Q6IA86 ELP2_HUMAN elongator protein 2 198 WD 4. regulation of transcription from RNA polymerase II promoter Golgi apparatus|transcription elongation factor complex breast(2)|ovary(1)|skin(1) 4 ACTAGTTTCAGAAAGTGCTTT 0.398 NaN 0 0 0 0.008361 0 30 60 ELP2 55250 broad.mit.edu 37 18 33722792 33722792 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr18:33722792G>C uc002kzk.1 + 8 669 c.659G>C c.(658-660)AGA>ACA p.R220T ELP2_uc010xcg.1_Missense_Mutation_p.R285T|ELP2_uc002kzl.1_RNA|ELP2_uc002kzm.1_Missense_Mutation_p.R194T|ELP2_uc010xch.1_Missense_Mutation_p.R259T|ELP2_uc002kzn.1_Missense_Mutation_p.R194T|ELP2_uc002kzo.1_Missense_Mutation_p.R150T NM_018255 NP_060725 Q6IA86 ELP2_HUMAN elongator protein 2 220 WD 5. regulation of transcription from RNA polymerase II promoter Golgi apparatus|transcription elongation factor complex breast(2)|ovary(1)|skin(1) 4 TAATTAGGTAGAGATCTTTTC 0.264 NaN 0 0 0 0.003954 0 23 45 PSTPIP2 9050 broad.mit.edu 37 18 43571884 43571884 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr18:43571884C>T uc002lbp.3 - 12 1000 c.904G>A c.(904-906)GGG>AGG p.G302R PSTPIP2_uc002lbq.3_Silent_p.Q269Q NM_024430 NP_077748 Q9H939 PPIP2_HUMAN proline-serine-threonine phosphatase interacting 302 membrane ovary(1) 1 AAGTTAGGCCCTGTAGCCTTT 0.408 NaN 0 0 0 0.004007 0 17 28 ATP8B1 5205 broad.mit.edu 37 18 55362485 55362485 + Missense_Mutation SNP A A C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr18:55362485A>C uc002lgw.2 - 9 858 c.858T>G c.(856-858)TTT>TTG p.F286L uc002lgv.1_Intron NM_005603 NP_005594 O43520 AT8B1_HUMAN ATPase, class I, type 8B, member 1 286 Cytoplasmic (Potential). ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent apical plasma membrane|integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(5)|ovary(2)|central_nervous_system(2)|lung(1) 10 Colorectal(73;0.229) CATCCAAAGGAAAACTTGTGT 0.343 NaN Byler_disease 0 0 0 0.012319 0 20 47 ATP8B1 5205 broad.mit.edu 37 18 55368508 55368508 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr18:55368508G>A uc002lgw.2 - 4 431 c.431C>T c.(430-432)ACA>ATA p.T144I uc002lgv.1_Intron NM_005603 NP_005594 O43520 AT8B1_HUMAN ATPase, class I, type 8B, member 1 144 Helical; (Potential). ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent apical plasma membrane|integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(5)|ovary(2)|central_nervous_system(2)|lung(1) 10 Colorectal(73;0.229) GGGCACTAGTGTGGTGTACCA 0.463 NaN Byler_disease 0 0 0 0.013537 0 12 27 BCL2 596 broad.mit.edu 37 18 60985642 60985642 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr18:60985642G>A uc002lit.1 - 2 751 c.258C>T c.(256-258)CTC>CTT p.L86L BCL2_uc002liu.1_Silent_p.L86L|BCL2_uc002liv.1_Silent_p.L86L NM_000633 NP_000624 P10415 BCL2_HUMAN B-cell lymphoma protein 2 alpha isoform 86 activation of pro-apoptotic gene products|anti-apoptosis|apoptosis in response to endoplasmic reticulum stress|B cell proliferation|B cell receptor signaling pathway|defense response to virus|female pregnancy|humoral immune response|induction of apoptosis by intracellular signals|negative regulation of cellular pH reduction|negative regulation of mitochondrial depolarization|negative regulation of neuron apoptosis|neuron apoptosis|positive regulation of B cell proliferation|positive regulation of cell growth|protein polyubiquitination|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|regulation of transmembrane transporter activity|release of cytochrome c from mitochondria|response to cytokine stimulus|response to DNA damage stimulus|response to drug|response to iron ion|response to nicotine|response to toxin endoplasmic reticulum membrane|mitochondrial outer membrane|nuclear membrane|pore complex BH3 domain binding|channel activity|protease binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|ubiquitin protein ligase binding central_nervous_system(1) 1 all_hematologic(56;1.18e-20)|Prostate(75;0.0872) Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935) Docetaxel(DB01248)|Fludarabine(DB01073)|Melatonin(DB01065)|Paclitaxel(DB01229)|Rasagiline(DB01367) GCACCGGGCTGAGCGCAggcc 0.622 NaN T IGH@ NHL|CLL 0 0 0 0.004672 0 3 6 SERPINB8 5271 broad.mit.edu 37 18 61647081 61647081 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr18:61647081C>T uc002ljv.2 + 3 384 c.215C>T c.(214-216)TCA>TTA p.S72L SERPINB8_uc002ljs.1_Missense_Mutation_p.S72L|SERPINB8_uc002ljt.2_Missense_Mutation_p.S72L|SERPINB8_uc002lju.2_Missense_Mutation_p.S72L|SERPINB8_uc010xex.1_5'UTR NM_198833 NP_942130 P50452 SPB8_HUMAN serine (or cysteine) proteinase inhibitor, clade 72 regulation of proteolysis cytosol protein binding|serine-type endopeptidase inhibitor activity skin(1) 1 Esophageal squamous(42;0.129) GGTTTCCAGTCACTTCTCAGT 0.428 NaN OREG0025042 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.004289 0 38 70 RTTN 25914 broad.mit.edu 37 18 67715352 67715352 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr18:67715352G>A uc002lkp.2 - 40 5464 c.5396C>T c.(5395-5397)TCT>TTT p.S1799F RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Missense_Mutation_p.S887F|RTTN_uc010dqp.2_Missense_Mutation_p.S51F NM_173630 NP_775901 Q86VV8 RTTN_HUMAN rotatin 1799 binding ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1) 8 Esophageal squamous(42;0.129) CAAGAGAACAGAAAGGAATTG 0.448 NaN 0 0 0 0.008871 0 20 29 CNDP2 55748 broad.mit.edu 37 18 72167257 72167257 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr18:72167257C>T uc002llm.1 + 2 211 c.49C>T c.(49-51)CGC>TGC p.R17C CNDP2_uc002lln.1_Missense_Mutation_p.R17C|CNDP2_uc002llo.2_Missense_Mutation_p.R17C NM_018235 NP_060705 Q96KP4 CNDP2_HUMAN CNDP dipeptidase 2 17 cytoplasm carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity ovary(2)|skin(1) 3 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.22) AAATCAGGATCGCTACATTAA 0.428 NaN 0 0 0 0.013537 0 12 19 NFATC1 4772 broad.mit.edu 37 18 77211716 77211716 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr18:77211716G>A uc010xfg.1 + 6 2256 c.1803G>A c.(1801-1803)CAG>CAA p.Q601Q NFATC1_uc002lnc.1_Silent_p.Q601Q|NFATC1_uc010xff.1_Missense_Mutation_p.R573K|NFATC1_uc002lnd.2_Silent_p.Q601Q|NFATC1_uc002lne.2_Silent_p.Q129Q|NFATC1_uc010xfh.1_Silent_p.Q601Q|NFATC1_uc010xfi.1_Silent_p.Q588Q|NFATC1_uc010xfj.1_Silent_p.Q129Q|NFATC1_uc002lnf.2_Silent_p.Q588Q|NFATC1_uc002lng.2_Silent_p.Q588Q|NFATC1_uc010xfk.1_Silent_p.Q588Q NM_006162 NP_006153 O95644 NFAC1_HUMAN nuclear factor of activated T-cells, cytosolic 601 intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding large_intestine(1)|ovary(1) 2 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257) TGGAGAAGCAGAGCACGGACA 0.627 NaN 0 0 0 0.001855 0 13 21 POLRMT 5442 broad.mit.edu 37 19 622259 622259 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:622259C>T uc002lpf.1 - 9 1797 c.1741G>A c.(1741-1743)GAG>AAG p.E581K NM_005035 NP_005026 O00411 RPOM_HUMAN mitochondrial DNA-directed RNA polymerase 581 transcription initiation from mitochondrial promoter mitochondrial nucleoid DNA binding|DNA-directed RNA polymerase activity|protein binding ovary(1)|pancreas(1) 2 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ACCAGCATCTCCGCCAGCAGC 0.672 NaN 0 0 0 0.009096 0 2 0 POLR2E 5434 broad.mit.edu 37 19 1093966 1093966 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:1093966C>T uc002lre.3 - 2 246 c.169G>A c.(169-171)GAC>AAC p.D57N POLR2E_uc010xgf.1_Intron NM_002695 NP_002686 P19388 RPAB1_HUMAN DNA directed RNA polymerase II polypeptide E 57 interspecies interaction between organisms|mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity 0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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) ACGGTGAGGTCCGTGCGCCGC 0.642 NaN 0 0 0 0.000602 0 5 13 APC2 10297 broad.mit.edu 37 19 1453566 1453566 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:1453566G>A uc002lsr.1 + 4 577 c.369G>A c.(367-369)CTG>CTA p.L123L APC2_uc002lss.1_5'UTR|APC2_uc002lst.1_Silent_p.L123L|APC2_uc002lsu.1_Silent_p.L123L NM_005883 NP_005874 O95996 APC2_HUMAN adenomatosis polyposis coli 2 123 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm beta-catenin binding|microtubule binding breast(3)|pancreas(1) 4 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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) TTGGGGAGCTGAGCCGGGCCA 0.721 NaN 0 0 0 0.00308 0 8 14 APC2 10297 broad.mit.edu 37 19 1461114 1461114 + Missense_Mutation SNP G G T rs146990856 TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:1461114G>T uc002lsr.1 + 13 1808 c.1600G>T c.(1600-1602)GTG>TTG p.V534L APC2_uc002lss.1_Missense_Mutation_p.V116L|APC2_uc002lst.1_Missense_Mutation_p.V534L|APC2_uc002lsu.1_Missense_Mutation_p.V533L|uc002lsv.2_5'Flank NM_005883 NP_005874 O95996 APC2_HUMAN adenomatosis polyposis coli 2 534 ARM 3. negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm beta-catenin binding|microtubule binding breast(3)|pancreas(1) 4 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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) GGCGGGCAGCGTGACTGCCCT 0.647 NaN 1 0 0.000132079 0.008871 0.000134622 18 57 ATP8B3 148229 broad.mit.edu 37 19 1785654 1785654 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:1785654C>G uc002ltw.2 - 26 3441 c.3207G>C c.(3205-3207)CAG>CAC p.Q1069H ATP8B3_uc002ltv.2_Missense_Mutation_p.Q1032H|ATP8B3_uc002ltx.2_RNA NM_138813 NP_620168 O60423 AT8B3_HUMAN ATPase, class I, type 8B, member 3 1069 Cytoplasmic (Potential). ATP biosynthetic process ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCTCGTCCTTCTGCCCCACCA 0.607 NaN 0 0 0 0.013537 0 12 8 DOT1L 84444 broad.mit.edu 37 19 2194543 2194543 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 G A G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:2194543G>A uc002lvb.3 + 7 654 c.618G>A c.(616-618)ATG>ATA p.M206I NM_032482 NP_115871 Q8TEK3 DOT1L_HUMAN DOT1-like, histone H3 methyltransferase 206 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 4 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) GGAAGTGGATGAAATGGTATG 0.313 NaN 0 0 0 0.007413 0 17 40 DOT1L 84444 broad.mit.edu 37 19 2208972 2208972 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:2208972C>T uc002lvb.3 + 12 1038 c.1002C>T c.(1000-1002)CTC>CTT p.L334L DOT1L_uc002lvc.1_5'Flank NM_032482 NP_115871 Q8TEK3 DOT1L_HUMAN DOT1-like, histone H3 methyltransferase 334 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 4 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) ACCCAAAACTCAGGGTAAGTT 0.443 NaN 0 0 0 0.004656 0 26 48 ZNF555 148254 broad.mit.edu 37 19 2852793 2852793 + Missense_Mutation SNP A A G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:2852793A>G uc002lwo.2 + 4 819 c.730A>G c.(730-732)ACT>GCT p.T244A ZNF555_uc002lwn.3_Missense_Mutation_p.T243A NM_152791 NP_690004 Q8NEP9 ZN555_HUMAN zinc finger protein 555 244 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 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)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTCAAGTCTTACTAGTCATCT 0.423 NaN 0 0 0 0.006122 0 19 54 AES 166 broad.mit.edu 37 19 3055693 3055693 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:3055693C>G uc002lwy.1 - 5 439 c.266G>C c.(265-267)TGT>TCT p.C89S AES_uc002lwx.1_3'UTR|AES_uc002lwz.1_Missense_Mutation_p.C89S|AES_uc002lxa.1_Missense_Mutation_p.C33S|AES_uc002lxb.1_Missense_Mutation_p.C156S|AES_uc002lxc.2_Missense_Mutation_p.C156S NM_001130 NP_001121 Q08117 AES_HUMAN amino-terminal enhancer of split isoform b 89 Gln-rich (Q domain). negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of response to cytokine stimulus|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|response to interleukin-1|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding|transcription corepressor activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GACCTGGGCACAAATCCCGTT 0.642 NaN 0 0 0 0.001855 0 12 27 GIPC3 126326 broad.mit.edu 37 19 3586625 3586625 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:3586625G>A uc002lyd.3 + 2 385 c.358G>A c.(358-360)GAT>AAT p.D120N NM_133261 NP_573568 Q8TF64 GIPC3_HUMAN GIPC PDZ domain containing family, member 3 120 PDZ. 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) TAAGACAGAGGATGCTCTGGG 0.632 NaN OREG0025154 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.010504 0 18 92 DAPK3 1613 broad.mit.edu 37 19 3964647 3964647 + Silent SNP G G A rs144975421 byFrequency TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:3964647G>A uc002lzc.1 - 2 498 c.405C>T c.(403-405)ATC>ATT p.I135I DAPK3_uc002lzb.1_5'Flank|DAPK3_uc002lzd.1_Silent_p.I135I NM_001348 NP_001339 O43293 DAPK3_HUMAN death-associated protein kinase 3 135 Protein kinase. apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade cytoplasm|PML body ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity central_nervous_system(3)|lung(2)|ovary(1)|large_intestine(1) 7 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) CAAAGTGTGCGATGCGCTTAG 0.642 NaN 0 0 0 0.014323 0 20 59 CREB3L3 84699 broad.mit.edu 37 19 4164618 4164618 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:4164618C>T uc002lzl.2 + 5 811 c.695C>T c.(694-696)ACT>ATT p.T232I CREB3L3_uc002lzm.2_Missense_Mutation_p.T222I|CREB3L3_uc010xib.1_Missense_Mutation_p.T221I|CREB3L3_uc010xic.1_Missense_Mutation_p.T223I NM_032607 NP_115996 Q68CJ9 CR3L3_HUMAN cAMP responsive element binding protein 3-like 232 Cytoplasmic (Potential). response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18) ACCCTGCCCACTCAGCTGCCC 0.582 NaN 0 0 0 0.008871 0 20 26 SHD 56961 broad.mit.edu 37 19 4288274 4288274 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:4288274G>A uc002lzw.2 + 5 2214 c.751G>A c.(751-753)GAG>AAG p.E251K SHD_uc010dtu.2_Intron NM_020209 NP_064594 Q96IW2 SHD_HUMAN Src homology 2 domain containing transforming 251 SH2. 0 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18) GGCGGATGCAGAGAGCCTCCT 0.557 NaN 0 0 0 0.004007 0 16 42 SHD 56961 broad.mit.edu 37 19 4288325 4288325 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:4288325G>A uc002lzw.2 + 5 2265 c.802G>A c.(802-804)GAG>AAG p.E268K SHD_uc010dtu.2_Intron NM_020209 NP_064594 Q96IW2 SHD_HUMAN Src homology 2 domain containing transforming 268 SH2. 0 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18) GCGGCTCAGTGAGACCAACCC 0.572 NaN 0 0 0 0.004482 0 8 26 ACSBG2 81616 broad.mit.edu 37 19 6187358 6187358 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:6187358G>A uc002mef.1 + 12 1832 c.1605G>A c.(1603-1605)AAG>AAA p.K535K ACSBG2_uc002mee.1_Silent_p.K348K|ACSBG2_uc002meg.1_Silent_p.K535K|ACSBG2_uc002meh.1_Silent_p.K535K|ACSBG2_uc002mei.1_Silent_p.K485K|ACSBG2_uc010xiz.1_Silent_p.K535K NM_030924 NP_112186 Q5FVE4 ACBG2_HUMAN bubblegum-related acyl-CoA synthetase 2 535 cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis membrane|microsome|mitochondrion acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity ovary(1) 1 TGGTTAAGAAGAAGATCCCCA 0.468 NaN 0 0 0 0.00333 0 19 80 ACER1 125981 broad.mit.edu 37 19 6306799 6306799 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:6306799G>A uc002mel.2 - 6 799 c.721C>T c.(721-723)CGC>TGC p.R241C NM_133492 NP_597999 Q8TDN7 ACER1_HUMAN alkaline ceramidase 1 241 Cytoplasmic (Potential). endoplasmic reticulum membrane|integral to membrane ceramidase activity 0 GGCCAGTAGCGGACTTTGAGG 0.572 NaN 0 0 0 0.008291 0 11 37 CLPP 8192 broad.mit.edu 37 19 6364487 6364487 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:6364487C>T uc002mem.1 + 4 515 c.392C>T c.(391-393)GCC>GTC p.A131V CLPP_uc002men.1_5'Flank NM_006012 NP_006003 Q16740 CLPP_HUMAN caseinolytic peptidase, ATP-dependent, 131 proteolysis mitochondrial matrix ATP binding|protein binding|serine-type endopeptidase activity ovary(1) 1 GCGGGCCTGGCCATCTACGAC 0.667 NaN 0 0 0 0.000602 0 4 9 TRIP10 9322 broad.mit.edu 37 19 6746547 6746547 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:6746547G>C uc002mfs.2 + 11 1303 c.1237G>C c.(1237-1239)GAA>CAA p.E413Q TRIP10_uc010dux.1_Missense_Mutation_p.E357Q|TRIP10_uc002mfr.2_Missense_Mutation_p.E357Q|TRIP10_uc010duy.2_RNA|TRIP10_uc010duz.2_Missense_Mutation_p.E176Q NM_004240 NP_004231 Q15642 CIP4_HUMAN thyroid hormone receptor interactor 10 413 Interaction with CDC42.|Interaction with PDE6G (By similarity).|REM. actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup GTPase activator activity|identical protein binding|lipid binding ovary(1) 1 ACGCAGTCGTGAACTTCAGAA 0.478 NaN 0 0 0 0.001984 0 7 14 VAV1 7409 broad.mit.edu 37 19 6829860 6829860 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:6829860C>T uc002mfu.1 + 14 1426 c.1329C>T c.(1327-1329)CTC>CTT p.L443L VAV1_uc010xjh.1_Silent_p.L411L|VAV1_uc010dva.1_Silent_p.L443L|VAV1_uc002mfv.1_Silent_p.L388L NM_005428 NP_005419 P15498 VAV_HUMAN vav 1 guanine nucleotide exchange factor 443 PH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation cytosol|plasma membrane metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity lung(4)|ovary(4)|breast(3)|central_nervous_system(2)|kidney(2)|skin(1) 16 CCTATGACCTCAAGGACTTTG 0.532 NaN 0 0 0 0.00333 0 23 86 INSR 3643 broad.mit.edu 37 19 7152923 7152923 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:7152923G>A uc002mgd.1 - 10 2154 c.2045C>T c.(2044-2046)TCG>TTG p.S682L INSR_uc002mge.1_Missense_Mutation_p.S682L|INSR_uc002mgf.2_Missense_Mutation_p.S682L NM_000208 NP_000199 P06213 INSR_HUMAN insulin receptor isoform Long precursor 682 Fibronectin type-III 1. activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus caveola|endosome membrane|insulin receptor complex|microsome ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1) 12 Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CCAGGTCCTCGAGGGCAGCTT 0.438 NaN 0 0 0 0.014323 0 22 49 INSR 3643 broad.mit.edu 37 19 7184523 7184523 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:7184523G>A uc002mgd.1 - 3 887 c.778C>T c.(778-780)CTG>TTG p.L260L INSR_uc002mge.1_Silent_p.L260L|INSR_uc002mgf.2_Silent_p.L260L NM_000208 NP_000199 P06213 INSR_HUMAN insulin receptor isoform Long precursor 260 Cys-rich. L -> P (in LEPRCH; Geldeimalsen). activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus caveola|endosome membrane|insulin receptor complex|microsome ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1) 12 Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CTGCCGTCCAGGTAGAAGTTG 0.637 NaN 0 0 0 0.009096 0 3 13 ARHGEF18 23370 broad.mit.edu 37 19 7531822 7531822 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:7531822G>A uc002mgi.2 + 14 2612 c.2359G>A c.(2359-2361)GAA>AAA p.E787K ARHGEF18_uc010xjm.1_Missense_Mutation_p.E629K|ARHGEF18_uc002mgh.2_Missense_Mutation_p.E629K|ARHGEF18_uc002mgj.1_Missense_Mutation_p.E430K NM_001130955 NP_001124427 Q6ZSZ5 ARHGI_HUMAN Rho/Rac guanine nucleotide exchange factor 18 787 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity ovary(1) 1 Renal(5;0.0902) GCCAGGCACGGAATCCGATCC 0.632 NaN 0 0 0 0.008291 0 10 57 C19orf59 199675 broad.mit.edu 37 19 7743014 7743014 + Nonsense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:7743014C>G uc002mhh.1 + 3 234 c.209C>G c.(208-210)TCA>TGA p.S70* TRAPPC5_uc002mhi.1_5'Flank|TRAPPC5_uc002mhj.1_5'Flank|TRAPPC5_uc002mhk.1_5'Flank NM_174918 NP_777578 Q8IX19 MCEM1_HUMAN mast cell-expressed membrane protein 1 70 Cytoplasmic (Potential). integral to membrane skin(1) 1 AGGCCGCCCTCAGACTCCACC 0.597 NaN OREG0025208 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.01441 0 44 137 OR7D4 125958 broad.mit.edu 37 19 9325375 9325375 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:9325375G>C uc002mla.1 - 1 139 c.139C>G c.(139-141)CTG>GTG p.L47V NM_001005191 NP_001005191 Q8NG98 OR7D4_HUMAN olfactory receptor, family 7, subfamily D, 47 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1)|skin(1) 4 CTGACGGCCAGAATGATGAGC 0.557 NaN 0 0 0 0.00245 0 14 56 ZNF121 7675 broad.mit.edu 37 19 9677729 9677729 + Silent SNP G G A rs149905678 TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:9677729G>A uc010xkp.1 - 4 292 c.60C>T c.(58-60)TTC>TTT p.F20F ZNF121_uc010dwt.2_Silent_p.F20F|ZNF121_uc010xkq.1_Silent_p.F20F NM_001008727 NP_001008727 P58317 ZN121_HUMAN zinc finger protein 121 20 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 AGTGTTCACTGAAGATTTCTC 0.383 NaN 0 0 0 0.014323 0 22 58 ZNF562 54811 broad.mit.edu 37 19 9763894 9763894 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:9763894G>C uc010xks.1 - 6 1175 c.1012C>G c.(1012-1014)CAC>GAC p.H338D ZNF562_uc002mly.2_Missense_Mutation_p.H338D|ZNF562_uc002mlx.2_Missense_Mutation_p.H266D|ZNF562_uc010xkt.1_Missense_Mutation_p.H301D|ZNF562_uc010xku.1_Missense_Mutation_p.H269D|ZNF562_uc010xkv.1_Missense_Mutation_p.H337D|ZNF562_uc010xkw.1_Missense_Mutation_p.H222D NM_001130032 NP_001123504 Q6V9R5 ZN562_HUMAN zinc finger protein 562 isoform a 338 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 ATTCCAGTGTGAGTTCTTACA 0.418 NaN 0 0 0 0.005524 0 37 127 TYK2 7297 broad.mit.edu 37 19 10488945 10488945 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:10488945G>A uc002moc.3 - 3 516 c.138C>T c.(136-138)TTC>TTT p.F46F TYK2_uc010dxe.2_Intron|TYK2_uc002mod.2_Silent_p.F46F NM_003331 NP_003322 P29597 TYK2_HUMAN tyrosine kinase 2 46 FERM. intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytoskeleton|cytosol|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity lung(5)|large_intestine(2)|ovary(1)|breast(1) 9 OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06) ATGACTCACTGAAAGTGACCC 0.622 NaN 0 0 0 0.006122 0 16 28 PDE4A 5141 broad.mit.edu 37 19 10571772 10571772 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:10571772C>T uc002moj.2 + 11 1566 c.1458C>T c.(1456-1458)ATC>ATT p.I486I PDE4A_uc002mok.2_Silent_p.I460I|PDE4A_uc002mol.2_Silent_p.I425I|PDE4A_uc002mom.2_Silent_p.I247I|PDE4A_uc002mon.2_5'UTR|PDE4A_uc002moo.2_Silent_p.I152I NM_001111307 NP_001104777 P27815 PDE4A_HUMAN phosphodiesterase 4A isoform 1 486 Catalytic. signal transduction cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding ovary(1)|breast(1)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06) Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277) AGTTCCTCATCAACACCAGTG 0.647 NaN 0 0 0 0.001168 0 6 32 CDKN2D 1032 broad.mit.edu 37 19 10677925 10677925 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:10677925C>T uc002mpa.2 - 2 612 c.310G>A c.(310-312)GAT>AAT p.D104N KRI1_uc002mox.1_5'Flank|KRI1_uc002moy.1_5'Flank|CDKN2D_uc002mpb.2_Missense_Mutation_p.D104N NM_001800 NP_001791 P55273 CDN2D_HUMAN cyclin-dependent kinase inhibitor 2D 104 anti-apoptosis|autophagic cell death|cell cycle arrest|DNA synthesis involved in DNA repair|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|negative regulation of caspase activity|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|response to retinoic acid|response to UV|response to vitamin D cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|protein kinase binding 0 Epithelial(33;1.58e-05)|all cancers(31;6.36e-05) CCGGTGCCATCAGGCACGTTG 0.597 NaN Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System 0 0 0 0.004878 0 39 105 ILF3 3609 broad.mit.edu 37 19 10793282 10793282 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:10793282G>A uc002mpn.2 + 13 1767 c.1450G>A c.(1450-1452)GAG>AAG p.E484K ILF3_uc002mpm.2_Missense_Mutation_p.E484K|ILF3_uc002mpl.2_Missense_Mutation_p.E484K|ILF3_uc002mpk.2_Missense_Mutation_p.E484K|ILF3_uc010xli.1_Missense_Mutation_p.E82K|ILF3_uc002mpo.2_Missense_Mutation_p.E484K|ILF3_uc002mpp.2_Missense_Mutation_p.E305K NM_012218 NP_036350 Q12906 ILF3_HUMAN interleukin enhancer binding factor 3 isoform a 484 M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleolus|ribonucleoprotein complex DNA binding|double-stranded RNA binding|protein binding|protein binding ovary(3) 3 Epithelial(33;6.86e-06)|all cancers(31;1.65e-05) GGACTCGGCTGAGGAGACCGA 0.647 NaN 0 0 0 0.008291 0 10 19 ILF3 3609 broad.mit.edu 37 19 10793285 10793285 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:10793285G>A uc002mpn.2 + 13 1770 c.1453G>A c.(1453-1455)GAG>AAG p.E485K ILF3_uc002mpm.2_Missense_Mutation_p.E485K|ILF3_uc002mpl.2_Missense_Mutation_p.E485K|ILF3_uc002mpk.2_Missense_Mutation_p.E485K|ILF3_uc010xli.1_Missense_Mutation_p.E83K|ILF3_uc002mpo.2_Missense_Mutation_p.E485K|ILF3_uc002mpp.2_Missense_Mutation_p.E306K NM_012218 NP_036350 Q12906 ILF3_HUMAN interleukin enhancer binding factor 3 isoform a 485 M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleolus|ribonucleoprotein complex DNA binding|double-stranded RNA binding|protein binding|protein binding ovary(3) 3 Epithelial(33;6.86e-06)|all cancers(31;1.65e-05) CTCGGCTGAGGAGACCGAGGC 0.647 NaN 0 0 0 0.008291 0 10 19 ILF3 3609 broad.mit.edu 37 19 10793287 10793287 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:10793287G>A uc002mpn.2 + 13 1772 c.1455G>A c.(1453-1455)GAG>GAA p.E485E ILF3_uc002mpm.2_Silent_p.E485E|ILF3_uc002mpl.2_Silent_p.E485E|ILF3_uc002mpk.2_Silent_p.E485E|ILF3_uc010xli.1_Silent_p.E83E|ILF3_uc002mpo.2_Silent_p.E485E|ILF3_uc002mpp.2_Silent_p.E306E NM_012218 NP_036350 Q12906 ILF3_HUMAN interleukin enhancer binding factor 3 isoform a 485 M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleolus|ribonucleoprotein complex DNA binding|double-stranded RNA binding|protein binding|protein binding ovary(3) 3 Epithelial(33;6.86e-06)|all cancers(31;1.65e-05) CGGCTGAGGAGACCGAGGCGA 0.647 NaN 0 0 0 0.008291 0 10 19 C19orf52 90580 broad.mit.edu 37 19 11040318 11040318 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:11040318G>A uc002mqd.1 + 2 798 c.723G>A c.(721-723)AAG>AAA p.K241K YIPF2_uc002mqb.2_5'Flank|YIPF2_uc002mqc.2_5'Flank NM_138358 NP_612367 Q9BSF4 CS052_HUMAN hypothetical protein LOC90580 241 0 AGAAGGAGAAGAAGGACAGGC 0.637 NaN 0 0 0 0.003163 0 15 11 EPOR 2057 broad.mit.edu 37 19 11493835 11493835 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:11493835G>A uc002mrj.1 - 2 325 c.189C>T c.(187-189)TTC>TTT p.F63F EPOR_uc002mrh.2_5'Flank|EPOR_uc002mri.2_5'UTR|EPOR_uc002mrk.1_5'UTR|EPOR_uc002mrl.1_RNA|EPOR_uc010xlx.1_RNA|EPOR_uc010xly.1_5'UTR|RGL3_uc002mrn.2_3'UTR|RGL3_uc002mrm.2_3'UTR NM_000121 NP_000112 P19235 EPOR_HUMAN erythropoietin receptor precursor 63 Extracellular (Potential). extracellular region|integral to plasma membrane erythropoietin receptor activity|identical protein binding ovary(1) 1 Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016) CTTCCTCCCAGAAACACACCA 0.682 NaN 0 0 0 0.001984 0 7 21 CCDC151 115948 broad.mit.edu 37 19 11541826 11541826 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:11541826C>T uc002mrs.2 - 2 402 c.259G>A c.(259-261)GCT>ACT p.A87T CCDC151_uc002mrr.2_Missense_Mutation_p.A22T|CCDC151_uc010dxz.2_Missense_Mutation_p.A87T NM_145045 NP_659482 A5D8V7 CC151_HUMAN coiled-coil domain containing 151 87 ovary(1) 1 TCAAAAAAAGCCTTCCGGTCA 0.522 NaN 0 0 0 0.012213 0 31 132 ACP5 54 broad.mit.edu 37 19 11687879 11687879 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:11687879C>G uc002msg.3 - 2 400 c.254G>C c.(253-255)AGG>ACG p.R85T ACP5_uc002msh.3_Missense_Mutation_p.R85T|ACP5_uc002msi.3_Missense_Mutation_p.R85T|ACP5_uc002msj.3_Missense_Mutation_p.R85T|ACP5_uc010dye.1_Missense_Mutation_p.R85T NM_001611 NP_001602 P13686 PPA5_HUMAN acid phosphatase 5, tartrate resistant 85 water-soluble vitamin metabolic process cytosol|integral to membrane|lysosome acid phosphatase activity|ferric iron binding|ferrous iron binding central_nervous_system(1) 1 GACCTGGAACCTCTTGTCATT 0.562 NaN 0 0 0 0.010729 0 10 39 HOOK2 29911 broad.mit.edu 37 19 12885514 12885514 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:12885514G>A uc002muy.2 - 3 344 c.173C>T c.(172-174)TCG>TTG p.S58L HOOK2_uc002muz.2_Missense_Mutation_p.S58L|HOOK2_uc002mva.2_Missense_Mutation_p.S58L NM_013312 NP_037444 Q96ED9 HOOK2_HUMAN hook homolog 2 isoform 1 58 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 TGGATCTTCCGAGATGCCCTG 0.587 NaN 0 0 0 0.00499 0 15 28 MAST1 22983 broad.mit.edu 37 19 12958498 12958498 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:12958498G>A uc002mvm.2 + 6 689 c.561G>A c.(559-561)CCG>CCA p.P187P MAST1_uc002mvk.2_Silent_p.P183P|MAST1_uc002mvl.2_3'UTR NM_014975 NP_055790 Q9Y2H9 MAST1_HUMAN microtubule associated serine/threonine kinase 187 cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(3)|lung(2)|large_intestine(1)|skin(1) 7 AGAGGTTCCCGAAGGTGAGGT 0.672 NaN OREG0025277 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.008291 0 11 18 NACC1 112939 broad.mit.edu 37 19 13246852 13246852 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:13246852C>T uc002mwm.2 + 2 999 c.831C>T c.(829-831)TCC>TCT p.S277S NM_052876 NP_443108 Q96RE7 NACC1_HUMAN transcriptional repressor NAC1 277 negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent cytoplasm|nuclear body 0 GCCCTGGCTCCTACCACAATG 0.627 NaN 0 0 0 0.00499 0 14 12 IER2 9592 broad.mit.edu 37 19 13264058 13264058 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:13264058C>T uc002mwr.2 + 2 386 c.58C>T c.(58-60)CAC>TAC p.H20Y NM_004907 NP_004898 Q9BTL4 IER2_HUMAN immediate early response 2 20 kidney(1) 1 OV - Ovarian serous cystadenocarcinoma(19;3.41e-21) GAAGATGTATCACTCCCGCAT 0.667 NaN OREG0025291 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.000602 0 5 5 CACNA1A 773 broad.mit.edu 37 19 13325339 13325339 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:13325339C>G uc010dze.2 - 39 6054 c.5818G>C c.(5818-5820)GAC>CAC p.D1940H CACNA1A_uc010xnd.1_Missense_Mutation_p.D645H|CACNA1A_uc002mwx.3_Missense_Mutation_p.D645H|CACNA1A_uc010dzc.2_Missense_Mutation_p.D1465H|CACNA1A_uc002mwy.3_Missense_Mutation_p.D1939H|CACNA1A_uc002mwv.3_Missense_Mutation_p.D456H NM_001127221 NP_001120693 O00555 CAC1A_HUMAN calcium channel, alpha 1A subunit isoform 3 1940 Cytoplasmic (Potential). 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) ACCAGCAGGTCTAGCGTCTTC 0.597 NaN 0 0 0 0.004482 0 8 12 CACNA1A 773 broad.mit.edu 37 19 13470507 13470507 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:13470507C>T uc010dze.2 - 6 1127 c.891G>A c.(889-891)GGG>GGA p.G297G CACNA1A_uc002mwy.3_Silent_p.G297G NM_001127221 NP_001120693 O00555 CAC1A_HUMAN calcium channel, alpha 1A subunit isoform 3 297 I.|Extracellular (Potential). 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) ACTGAGTGATCCCGTTGTTGG 0.547 NaN 0 0 0 0.004672 0 3 8 CD97 976 broad.mit.edu 37 19 14507162 14507162 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:14507162G>A uc002myl.2 + 5 478 c.355G>A c.(355-357)GAA>AAA p.E119K CD97_uc002mym.2_Missense_Mutation_p.E119K|CD97_uc002myn.2_Intron NM_078481 NP_510966 P48960 CD97_HUMAN CD97 antigen isoform 1 precursor 119 Extracellular (Potential).|EGF-like 3; calcium-binding (Potential). cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway extracellular space|integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(3)|breast(1) 4 AGATGTGGACGAATGTCAGCA 0.562 NaN 0 0 0 0.00278 0 25 81 OR7A17 26333 broad.mit.edu 37 19 14991344 14991344 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:14991344G>A uc010xob.1 - 1 824 c.824C>T c.(823-825)TCA>TTA p.S275L NM_030901 NP_112163 O14581 OR7AH_HUMAN olfactory receptor, family 7, subfamily A, 275 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Ovarian(108;0.203) GTACATCACTGAGGCTGTTGC 0.473 NaN 0 0 0 0.005443 0 27 74 CYP4F22 126410 broad.mit.edu 37 19 15648197 15648197 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:15648197C>T uc002nbh.3 + 5 560 c.393C>T c.(391-393)CTC>CTT p.L131L NM_173483 NP_775754 Q6NT55 CP4FN_HUMAN cytochrome P450, family 4, subfamily F, 131 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 AGGATGACCTCTTCTATGGCT 0.453 NaN 0 0 0 0.00333 0 20 72 EPS15L1 58513 broad.mit.edu 37 19 16535906 16535906 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:16535906G>A uc002ndz.1 - 9 786 c.780C>T c.(778-780)CTC>CTT p.L260L EPS15L1_uc002ndx.2_Silent_p.L260L|EPS15L1_uc002ndy.2_RNA|EPS15L1_uc010xpe.1_Silent_p.L150L|EPS15L1_uc010xpf.1_Silent_p.L163L|EPS15L1_uc002nea.1_Silent_p.L260L|EPS15L1_uc010eah.1_Silent_p.L260L|EPS15L1_uc002neb.1_Silent_p.L106L|EPS15L1_uc002nec.1_Silent_p.L260L NM_021235 NP_067058 Q9UBC2 EP15R_HUMAN epidermal growth factor receptor pathway 260 endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|nucleus|plasma membrane calcium ion binding ovary(3)|skin(2) 5 GTGTTTGCTTGAGGCTGTGCT 0.622 NaN 0 0 0 0.00499 0 16 60 OCEL1 79629 broad.mit.edu 37 19 17339098 17339098 + Nonsense_Mutation SNP G G T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:17339098G>T uc002nfp.2 + 5 654 c.652G>T c.(652-654)GAG>TAG p.E218* NM_024578 NP_078854 Q9H607 OCEL1_HUMAN occludin/ELL domain containing 1 218 central_nervous_system(1) 1 GGTTTGGAGGGAGTTTGAGAT 0.493 NaN 1 0 7.11191e-15 0.013726 7.46269e-15 35 90 USHBP1 83878 broad.mit.edu 37 19 17375060 17375060 + Missense_Mutation SNP G G A rs149022063 byFrequency TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:17375060G>A uc002nfs.1 - 2 162 c.49C>T c.(49-51)CCA>TCA p.P17S USHBP1_uc002nft.1_RNA|USHBP1_uc010xpk.1_Silent_p.L2L|USHBP1_uc010eam.1_5'UTR NM_031941 NP_114147 Q8N6Y0 USBP1_HUMAN Usher syndrome 1C binding protein 1 17 PDZ domain binding ovary(1) 1 CTTACGGGTGGAGCATGCCTC 0.652 NaN 0 0 0 0.000602 0 4 21 PLVAP 83483 broad.mit.edu 37 19 17476312 17476312 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:17476312G>A uc002ngk.1 - 3 1012 c.962C>T c.(961-963)GCG>GTG p.A321V NM_031310 NP_112600 Q9BX97 PLVAP_HUMAN plasmalemma vesicle associated protein 321 Potential.|Extracellular (Potential). caveola|integral to membrane|perinuclear region of cytoplasm 0 CTTCTGTTTCGCCTCCTGACT 0.667 NaN 0 0 0 0.004482 0 9 33 SLC27A1 376497 broad.mit.edu 37 19 17608118 17608118 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:17608118G>A uc002ngu.1 + 7 1101 c.1051G>A c.(1051-1053)GAG>AAG p.E351K SLC27A1_uc002ngt.1_Missense_Mutation_p.E83K|SLC27A1_uc010xpp.1_Missense_Mutation_p.E172K|SLC27A1_uc002ngv.1_5'UTR NM_198580 NP_940982 Q6PCB7 S27A1_HUMAN solute carrier family 27, member 1 351 Sufficient for oligomerization (By similarity).|Cytoplasmic (Potential). cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport endomembrane system|integral to membrane fatty acid transporter activity|nucleotide binding 0 GCCGGTGCGCGAGGCGGAGAG 0.687 NaN 0 0 0 0.001984 0 3 10 JAK3 3718 broad.mit.edu 37 19 17942579 17942579 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:17942579C>T uc002nhn.3 - 20 2809 c.2709G>A c.(2707-2709)GAG>GAA p.E903E JAK3_uc010ebh.2_Intron|JAK3_uc002nho.2_Silent_p.E903E NM_000215 NP_000206 P52333 JAK3_HUMAN Janus kinase 3 903 Protein kinase 2. B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis cytoskeleton|cytosol|endomembrane system|membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding haematopoietic_and_lymphoid_tissue(40)|lung(5)|breast(5)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1) 56 TGGGCAGGTACTCCATGACCA 0.662 2 Mis acute megakaryocytic leukemia| 0 0 0 0.004482 0 7 16 NCAN 1463 broad.mit.edu 37 19 19359535 19359535 + Nonsense_Mutation SNP G G T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:19359535G>T uc002nlz.2 + 14 3763 c.3664G>T c.(3664-3666)GAG>TAG p.E1222* NCAN_uc002nma.2_5'UTR NM_004386 NP_004377 O14594 NCAN_HUMAN chondroitin sulfate proteoglycan 3 precursor 1222 Sushi. axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding ovary(4) 4 Epithelial(12;0.00544) TCCGGCAGTGGAGAATGCCTC 0.498 NaN 1 0 2.0095e-06 0.001984 2.05981e-06 7 24 SF4 57794 broad.mit.edu 37 19 19420949 19420949 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:19420949G>A uc002nmh.2 - 3 269 c.267C>T c.(265-267)TTC>TTT p.F89F SF4_uc002nmi.2_5'UTR|SF4_uc002nmj.2_Intron|SF4_uc010xqr.1_RNA|SF4_uc010xqs.1_RNA NM_172231 NP_757386 Q8IWZ8 SUGP1_HUMAN splicing factor 4 89 nuclear mRNA splicing, via spliceosome nucleoplasm|spliceosomal complex RNA binding 0 ACTGCTGCAAGAAGCTACCAT 0.517 NaN 0 0 0 0.004007 0 15 65 PBX4 80714 broad.mit.edu 37 19 19675894 19675894 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:19675894G>A uc002nmy.2 - 6 774 c.773C>T c.(772-774)TCT>TTT p.S258F PBX4_uc010xqz.1_RNA|PBX4_uc010xra.1_Missense_Mutation_p.S93F NM_025245 NP_079521 Q9BYU1 PBX4_HUMAN pre-B-cell leukemia homeobox 4 258 Homeobox; TALE-type. sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|ovary(1) 2 AAACCAGTTAGAGACCTGCGG 0.532 NaN 0 0 0 0.01441 0 123 129 ZNF493 284443 broad.mit.edu 37 19 21607496 21607496 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:21607496C>G uc002npx.2 + 2 1931 c.1651C>G c.(1651-1653)CAT>GAT p.H551D ZNF493_uc002npw.2_Missense_Mutation_p.H679D|ZNF493_uc002npy.2_Missense_Mutation_p.H551D NM_175910 NP_787106 Q6ZR52 ZN493_HUMAN zinc finger protein 493 isoform 1 551 C2H2-type 19. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TAAGATAATTCATACTGAAGA 0.348 NaN 0 0 0 0.001984 0 7 36 ZNF429 353088 broad.mit.edu 37 19 21719352 21719352 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:21719352G>C uc002nqd.1 + 4 634 c.497G>C c.(496-498)AGA>ACA p.R166T ZNF429_uc010ecu.1_Intron NM_001001415 NP_001001415 Q86V71 ZN429_HUMAN zinc finger protein 429 166 C2H2-type 1; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 TACAAGACAAGACATACTGGA 0.313 NaN 0 0 0 0.001984 0 7 54 ZNF676 163223 broad.mit.edu 37 19 22364107 22364107 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:22364107C>T uc002nqs.1 - 3 730 c.412G>A c.(412-414)GAG>AAG p.E138K NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 138 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) AAACCTTTCTCTCCAGTATGC 0.318 NaN 0 0 0 0.014323 0 21 105 ZNF254 9534 broad.mit.edu 37 19 24309428 24309428 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:24309428C>T uc002nru.2 + 4 760 c.626C>T c.(625-627)TCC>TTC p.S209F ZNF254_uc010xrk.1_Missense_Mutation_p.S124F NM_203282 NP_975011 O75437 ZN254_HUMAN zinc finger protein 254 209 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186) AGAGAGAAGTCCTACAAATGT 0.303 NaN 0 0 0 0.012319 0 21 66 ZNF507 22847 broad.mit.edu 37 19 32845546 32845546 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:32845546G>A uc002nte.2 + 3 2082 c.1810G>A c.(1810-1812)GAC>AAC p.D604N ZNF507_uc002ntc.2_Missense_Mutation_p.D604N|ZNF507_uc010xrn.1_Missense_Mutation_p.D604N|ZNF507_uc002ntd.2_Missense_Mutation_p.D604N NM_001136156 NP_001129628 Q8TCN5 ZN507_HUMAN zinc finger protein 507 604 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1)|kidney(1)|central_nervous_system(1)|skin(1) 5 Esophageal squamous(110;0.162) AAACGCTTCAGACGATGACAT 0.468 NaN 0 0 0 0.001984 0 6 41 C19orf40 91442 broad.mit.edu 37 19 33467474 33467474 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:33467474C>T uc002nud.3 + 5 652 c.534C>T c.(532-534)CTC>CTT p.L178L NM_152266 NP_689479 Q9BTP7 FAP24_HUMAN Fanconi anemia-associated protein, 24 kDa 178 RuvA domain 2-like. DNA repair Fanconi anaemia nuclear complex chromatin binding|DNA binding|protein binding 0 Esophageal squamous(110;0.137) CCCTTCTCCTCCAGAAGTTTC 0.542 NaN Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks OREG0025408 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.00632 0 29 114 GPATCH1 55094 broad.mit.edu 37 19 33579137 33579137 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:33579137C>T uc002nug.1 + 2 485 c.171C>T c.(169-171)TTC>TTT p.F57F NM_018025 NP_060495 Q9BRR8 GPTC1_HUMAN G patch domain containing 1 57 catalytic step 2 spliceosome nucleic acid binding skin(1) 1 Esophageal squamous(110;0.137) GTGGAGGTTTCTCTGCTGGAT 0.383 NaN 0 0 0 0.007291 0 26 59 ZNF302 55900 broad.mit.edu 37 19 35175770 35175770 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:35175770G>A uc002nvr.1 + 6 1223 c.960G>A c.(958-960)CAG>CAA p.Q320Q ZNF302_uc002nvp.1_Silent_p.Q276Q|ZNF302_uc002nvq.1_Silent_p.Q276Q|ZNF302_uc002nvs.1_Silent_p.Q276Q NM_018443 NP_060913 Q9NR11 ZN302_HUMAN zinc finger protein 302 355 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) CTAACCATCAGAGCACTCACA 0.438 NaN 0 0 0 0.008871 0 18 68 ZNF792 126375 broad.mit.edu 37 19 35451187 35451187 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:35451187C>T uc002nxh.1 - 3 622 c.235G>A c.(235-237)GAT>AAT p.D79N NM_175872 NP_787068 Q3KQV3 ZN792_HUMAN zinc finger protein 792 79 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) GATGTCATATCCACACTGTCA 0.537 NaN 0 0 0 0.008291 0 7 35 GRAMD1A 57655 broad.mit.edu 37 19 35512680 35512680 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:35512680G>A uc010xse.1 + 15 1802 c.1665G>A c.(1663-1665)CGG>CGA p.R555R GRAMD1A_uc002nxk.2_Silent_p.R548R|GRAMD1A_uc002nxl.2_Silent_p.R321R|GRAMD1A_uc010xsf.1_Silent_p.R560R|GRAMD1A_uc002nxm.1_RNA|GRAMD1A_uc002nxn.1_Silent_p.R170R NM_020895 NP_065946 Q96CP6 GRM1A_HUMAN GRAM domain containing 1A isoform 1 555 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) TGCGGCGGCGGAAGCGGCCCC 0.682 NaN 0 0 0 0.004482 0 7 17 ARHGAP33 115703 broad.mit.edu 37 19 36278895 36278895 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:36278895C>T uc002obs.1 + 21 3030 c.2945C>T c.(2944-2946)TCC>TTC p.S982F ARHGAP33_uc002obt.1_Missense_Mutation_p.S979F|ARHGAP33_uc010eel.2_Intron|ARHGAP33_uc002obv.1_Missense_Mutation_p.S731F NM_052948 NP_443180 O14559 RHG33_HUMAN sorting nexin 26 1143 cell communication|protein transport|signal transduction intracellular GTPase activator activity|phosphatidylinositol binding|protein binding skin(2)|ovary(1)|pancreas(1) 4 CCAGCCCCCTCCTGCTTTCCC 0.667 NaN 0 0 0 0.004672 0 3 8 WDR62 284403 broad.mit.edu 37 19 36590419 36590419 + Missense_Mutation SNP A A G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:36590419A>G uc002odc.2 + 22 2730 c.2639A>G c.(2638-2640)CAG>CGG p.Q880R WDR62_uc002odd.2_Missense_Mutation_p.Q880R NM_173636 NP_775907 O43379 WDR62_HUMAN WD repeat domain 62 isoform 2 880 cerebral cortex development nucleus 0 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) CTGGATGCCCAGGACCTGGAT 0.632 NaN 0 0 0 0.010818 0 33 47 ZNF565 147929 broad.mit.edu 37 19 36673778 36673778 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:36673778C>T uc002odn.2 - 5 1198 c.1090G>A c.(1090-1092)GAG>AAG p.E364K ZNF565_uc010ees.2_Missense_Mutation_p.E299K|ZNF565_uc002odo.2_Missense_Mutation_p.E364K NM_152477 NP_689690 Q8N9K5 ZN565_HUMAN zinc finger protein 565 364 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.206) TCCTTACACTCATAGGGTTTC 0.488 NaN 0 0 0 0.012213 0 30 71 SIPA1L3 23094 broad.mit.edu 37 19 38597188 38597188 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:38597188G>A uc002ohk.2 + 7 2550 c.2041G>A c.(2041-2043)GGA>AGA p.G681R NM_015073 NP_055888 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 681 Rap-GAP. 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) CGACTCCACGGGAACCCACTC 0.413 NaN 0 0 0 0.010729 0 8 103 IL28B 282617 broad.mit.edu 37 19 39734518 39734518 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:39734518C>G uc010xut.1 - 4 442 c.438G>C c.(436-438)AGG>AGC p.R146S IL28B_uc010xuu.1_Missense_Mutation_p.R146S NM_172139 NP_742151 Q8IZI9 IL28B_HUMAN interleukin 28B 146 response to virus extracellular space cytokine activity 0 all_cancers(60;2.81e-07)|all_lung(34;7.81e-08)|Lung NSC(34;9.29e-08)|all_epithelial(25;3.9e-07)|Ovarian(47;0.0315) Epithelial(26;1.55e-27)|all cancers(26;1.41e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) GGCCCCGGGTCCTGGGCCCTG 0.687 NaN 0 0 0 0.013537 0 6 8 IL28B 282617 broad.mit.edu 37 19 39734756 39734756 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:39734756C>T uc010xut.1 - 3 304 c.300G>A c.(298-300)CTG>CTA p.L100L IL28B_uc010xuu.1_Silent_p.L100L NM_172139 NP_742151 Q8IZI9 IL28B_HUMAN interleukin 28B 100 response to virus extracellular space cytokine activity 0 all_cancers(60;2.81e-07)|all_lung(34;7.81e-08)|Lung NSC(34;9.29e-08)|all_epithelial(25;3.9e-07)|Ovarian(47;0.0315) Epithelial(26;1.55e-27)|all cancers(26;1.41e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) CCTTCAGCGTCAGGGCCAGCT 0.473 NaN 0 0 0 0.007413 0 18 21 SAMD4B 55095 broad.mit.edu 37 19 39868130 39868130 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:39868130G>A uc002olb.2 + 10 2145 c.1110G>A c.(1108-1110)GTG>GTA p.V370V SAMD4B_uc002ola.2_Silent_p.V370V NM_018028 NP_060498 Q5PRF9 SMAG2_HUMAN sterile alpha motif domain containing 4B 370 SAM. protein binding 0 all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) TCCAGGATGTGCTGGAAGGCG 0.582 NaN 0 0 0 0.006122 0 17 58 RPS16 6217 broad.mit.edu 37 19 39926340 39926340 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:39926340C>T uc002olk.2 - 2 140 c.57G>A c.(55-57)GCG>GCA p.A19A RPS16_uc002oll.2_Silent_p.A19A|RPS16_uc002olm.2_Silent_p.A19A NM_001020 NP_001011 P62249 RS16_HUMAN ribosomal protein S16 19 endocrine pancreas development|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit protein binding|RNA binding|structural constituent of ribosome skin(1) 1 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;4.14e-26)|all cancers(26;2.68e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) CCACAGCTGTCGCTGTCTTCT 0.602 NaN 0 0 0 0.000602 0 4 31 SUPT5H 6829 broad.mit.edu 37 19 39965239 39965239 + Missense_Mutation SNP G G T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:39965239G>T uc002olo.3 + 28 3084 c.2905G>T c.(2905-2907)GGC>TGC p.G969C SUPT5H_uc002olp.3_Missense_Mutation_p.G969C|SUPT5H_uc002olq.3_Missense_Mutation_p.G965C|SUPT5H_uc002oln.3_Missense_Mutation_p.G969C|SUPT5H_uc002olr.3_Missense_Mutation_p.G969C|SUPT5H_uc002ols.1_Missense_Mutation_p.G592C NM_001111020 NP_001104490 O00267 SPT5H_HUMAN suppressor of Ty 5 homolog isoform a 969 cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter nucleoplasm enzyme binding|protein heterodimerization activity ovary(3)|pancreas(1) 4 all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159) Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) ACACACGCCAGGCTCAGGCAT 0.617 NaN OREG0025462 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 1 0 3.51602e-12 0.008871 3.67699e-12 19 31 LGALS13 29124 broad.mit.edu 37 19 40097960 40097960 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:40097960C>T uc002omb.2 + 4 441 c.401C>T c.(400-402)TCA>TTA p.S134L NM_013268 NP_037400 Q9UHV8 PP13_HUMAN galectin-13 134 Galectin. lipid catabolic process|phospholipid metabolic process carboxylesterase activity|lysophospholipase activity|sugar binding ovary(1) 1 all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116) Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281) TCCCTGACCTCAGTGTGTGTC 0.463 NaN 0 0 0 0.009718 0 42 53 FCGBP 8857 broad.mit.edu 37 19 40433739 40433739 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:40433739G>A uc002omp.3 - 2 538 c.530C>T c.(529-531)TCA>TTA p.S177L NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 177 IgGFc-binding. extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GAATGTCACTGACCCCTTCAG 0.577 NaN 0 0 0 0.01441 0 52 60 ZNF780B 163131 broad.mit.edu 37 19 40542198 40542198 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:40542198C>T uc002omu.2 - 5 633 c.568G>A c.(568-570)GAG>AAG p.E190K ZNF780B_uc002omv.2_Missense_Mutation_p.E42K NM_001005851 NP_001005851 Q9Y6R6 Z780B_HUMAN zinc finger protein 780B 190 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) TAGGGTTTCTCTCCAGTATGA 0.338 NaN 0 0 0 0.001855 0 13 102 ZNF780B 163131 broad.mit.edu 37 19 40542207 40542207 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:40542207G>A uc002omu.2 - 5 624 c.559C>T c.(559-561)CAT>TAT p.H187Y ZNF780B_uc002omv.2_Missense_Mutation_p.H39Y NM_001005851 NP_001005851 Q9Y6R6 Z780B_HUMAN zinc finger protein 780B 187 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) TCTCCAGTATGAATACTCTGA 0.348 NaN 0 0 0 0.00245 0 14 102 MAP3K10 4294 broad.mit.edu 37 19 40715101 40715101 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:40715101C>T uc002ona.2 + 6 1815 c.1527C>T c.(1525-1527)ATC>ATT p.I509I MAP3K10_uc002onb.2_5'UTR NM_002446 NP_002437 Q02779 M3K10_HUMAN mitogen-activated protein kinase kinase kinase 509 activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway cytoplasm ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity ovary(2)|lung(2)|skin(1)|pancreas(1) 6 GCCCCAGCATCATCCCCCGGC 0.468 NaN 0 0 0 0.005524 0 35 52 SERTAD3 29946 broad.mit.edu 37 19 40947819 40947819 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:40947819G>A uc002onu.3 - 2 447 c.169C>T c.(169-171)CTC>TTC p.L57F SERTAD3_uc002onv.3_Missense_Mutation_p.L57F NM_013368 NP_037500 Q9UJW9 SRTD3_HUMAN RPA-binding trans-activator 57 SERTA. negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding 0 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) TTATGGATGAGGACATGCCTG 0.662 NaN 0 0 0 0.001168 0 5 11 SPTBN4 57731 broad.mit.edu 37 19 41008759 41008759 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:41008759G>A uc002ony.2 + 11 1367 c.1281G>A c.(1279-1281)CTG>CTA p.L427L SPTBN4_uc002onx.2_Silent_p.L427L|SPTBN4_uc002onz.2_Silent_p.L427L NM_020971 NP_066022 Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 isoform 427 actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(1)|skin(1) 5 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) AGGAGAAGCTGGAACTACTGG 0.597 NaN 0 0 0 0.01441 0 50 70 SHKBP1 92799 broad.mit.edu 37 19 41088265 41088265 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:41088265C>T uc002oob.2 + 10 902 c.853C>T c.(853-855)CAT>TAT p.H285Y SHKBP1_uc002ooc.2_Intron|SHKBP1_uc002ood.2_Missense_Mutation_p.H285Y|SHKBP1_uc010xvl.1_Missense_Mutation_p.H208Y|SHKBP1_uc002ooe.2_Missense_Mutation_p.H122Y|SHKBP1_uc002oof.2_Missense_Mutation_p.H122Y|SHKBP1_uc010xvm.1_Missense_Mutation_p.H122Y|SHKBP1_uc010xvn.1_Missense_Mutation_p.H163Y NM_138392 NP_612401 Q8TBC3 SHKB1_HUMAN SH3KBP1 binding protein 1 285 WD 2. voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(1)|pancreas(1) 2 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) AGGGGTCTTTCATCTGGGGGT 0.597 NaN 0 0 0 0.014323 0 23 92 LTBP4 8425 broad.mit.edu 37 19 41117097 41117097 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:41117097G>A uc002ooh.1 + 16 2051 c.2051G>A c.(2050-2052)CGA>CAA p.R684Q LTBP4_uc002oog.1_Missense_Mutation_p.R647Q|LTBP4_uc002ooi.1_Missense_Mutation_p.R617Q|LTBP4_uc002ooj.1_Intron|LTBP4_uc010xvo.1_Intron|LTBP4_uc010ehb.1_5'Flank|LTBP4_uc002ook.1_5'Flank|LTBP4_uc002ool.1_5'Flank|LTBP4_uc002oom.1_5'Flank|LTBP4_uc010xvp.1_5'Flank NM_001042544 NP_001036009 Q8N2S1 LTBP4_HUMAN latent transforming growth factor beta binding 684 Cys-rich.|EGF-like 6; calcium-binding (Potential). growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity central_nervous_system(1) 1 Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384) CTGTGTGGCCGAGGGGCCTGC 0.647 NaN 0 0 0 0.001168 0 6 35 LTBP4 8425 broad.mit.edu 37 19 41118028 41118028 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:41118028G>A uc002ooh.1 + 18 2430 c.2430G>A c.(2428-2430)GTG>GTA p.V810V LTBP4_uc002oog.1_Silent_p.V773V|LTBP4_uc002ooi.1_Silent_p.V743V|LTBP4_uc002ooj.1_5'UTR|LTBP4_uc010xvo.1_Silent_p.V98V|LTBP4_uc010ehb.1_Silent_p.V30V|LTBP4_uc002ook.1_Silent_p.V30V|LTBP4_uc002ool.1_5'Flank|LTBP4_uc002oom.1_5'Flank|LTBP4_uc010xvp.1_5'Flank NM_001042544 NP_001036009 Q8N2S1 LTBP4_HUMAN latent transforming growth factor beta binding 810 Cys-rich. growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity central_nervous_system(1) 1 Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384) AGGAGTGTGTGAACTCGCCCG 0.637 NaN 0 0 0 0.001168 0 4 15 CYP2A6 1548 broad.mit.edu 37 19 41349839 41349839 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:41349839G>A uc002opl.3 - 9 1368 c.1347C>T c.(1345-1347)CTC>CTT p.L449L NM_000762 NP_000753 P11509 CP2A6_HUMAN cytochrome P450, family 2, subfamily A, 449 coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752) AGAAGAGAAAGAGCTCCATTC 0.587 NaN 0 0 0 0.003163 0 9 55 GRIK5 2901 broad.mit.edu 37 19 42557979 42557979 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:42557979C>T uc002osj.1 - 9 1194 c.1159G>A c.(1159-1161)GAG>AAG p.E387K GRIK5_uc010eib.1_Missense_Mutation_p.E306K NM_002088 NP_002079 Q16478 GRIK5_HUMAN glutamate receptor KA2 precursor 387 Extracellular (Potential). cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity 0 Prostate(69;0.059) L-Glutamic Acid(DB00142) CTGCTCACCTCACGGTGGCCC 0.647 NaN 0 0 0 0.001168 0 4 28 ZNF574 64763 broad.mit.edu 37 19 42584118 42584118 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:42584118G>C uc002osm.3 + 2 1529 c.1360G>C c.(1360-1362)GAG>CAG p.E454Q ZNF574_uc002osk.3_Missense_Mutation_p.E544Q NM_022752 NP_073589 Q6ZN55 ZN574_HUMAN zinc finger protein 574 454 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.059) CCCTGTGTCTGAGGAGACCTC 0.637 NaN 0 0 0 0.004289 0 38 40 TMEM145 284339 broad.mit.edu 37 19 42827892 42827892 + Missense_Mutation SNP C C G rs149140216 TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:42827892C>G uc002otk.1 + 14 1404 c.1352C>G c.(1351-1353)TCG>TGG p.S451W MEGF8_uc002otl.3_5'Flank NM_173633 NP_775904 Q8NBT3 TM145_HUMAN transmembrane protein 145 451 integral to membrane 0 Prostate(69;0.00682) ATCAGCGACTCGGTGCCCAAC 0.682 NaN 0 0 0 0.010729 0 11 46 MEGF8 1954 broad.mit.edu 37 19 42854308 42854308 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:42854308C>T uc002otl.3 + 14 2942 c.2307C>T c.(2305-2307)TCC>TCT p.S769S MEGF8_uc002otm.3_Silent_p.S377S NM_001410 NP_001401 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 836 Extracellular (Potential). integral to membrane calcium ion binding|structural molecule activity ovary(1) 1 Prostate(69;0.00682) AGGAGATCTCCTTCTTCTTCC 0.607 NaN 0 0 0 0.003163 0 15 86 LIPE 3991 broad.mit.edu 37 19 42930623 42930623 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:42930623C>G uc002otr.2 - 1 956 c.679G>C c.(679-681)GAG>CAG p.E227Q uc010eif.1_Intron|uc002ott.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron|LIPE_uc002ots.1_5'Flank NM_005357 NP_005348 Q05469 LIPS_HUMAN hormone-sensitive lipase 227 cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process caveola|cytosol hormone-sensitive lipase activity|protein binding ovary(1)|breast(1) 2 Prostate(69;0.00682) GTGACCCACTCAGAAAGTGCC 0.493 NaN 0 0 0 0.01441 0 46 131 PSG7 5676 broad.mit.edu 37 19 43428961 43428961 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:43428961C>T uc002ovl.3 - 7 1361 c.1259G>A c.(1258-1260)TGA>TAA p.*420* PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc010xwl.1_Silent_p.*298* NM_002783 NP_002774 Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 420 female pregnancy extracellular region 0 Prostate(69;0.00682) tagtagaattcagggtaatgt 0 NaN 0 0 0 0.008871 0 20 83 CD177 57126 broad.mit.edu 37 19 43866321 43866321 + Missense_Mutation SNP G G T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:43866321G>T uc002owi.2 + 10 1205 c.1163G>T c.(1162-1164)GGG>GTG p.G388V CD177_uc010eis.2_RNA|CD177_uc002owj.2_RNA NM_020406 NP_065139 Q8N6Q3 CD177_HUMAN CD177 molecule precursor 388 blood coagulation|leukocyte migration anchored to membrane|plasma membrane central_nervous_system(1) 1 Prostate(69;0.00682) AGACAAATCGGGATCTTCTCT 0.592 NaN 1 0 1.76689e-08 0.006214 1.82753e-08 8 79 LYPD5 284348 broad.mit.edu 37 19 44302740 44302740 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:44302740C>T uc002oxm.3 - 4 465 c.384G>A c.(382-384)CCG>CCA p.P128P LYPD5_uc002oxn.3_Silent_p.P85P NM_001031749 NP_001026919 Q6UWN5 LYPD5_HUMAN LY6/PLAUR domain containing 5 isoform A 128 anchored to membrane|plasma membrane 0 Prostate(69;0.0352) CGCTGAGCGTCGGCGGGTCGG 0.677 NaN 0 0 0 0.008291 0 11 50 ZNF283 284349 broad.mit.edu 37 19 44351438 44351438 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:44351438C>T uc002oxr.3 + 7 953 c.685C>T c.(685-687)CAT>TAT p.H229Y ZNF283_uc002oxp.3_Missense_Mutation_p.H90Y NM_181845 NP_862828 Q8N7M2 ZN283_HUMAN zinc finger protein 283 229 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0352) TGAGAGAACTCATACAGCTGA 0.368 NaN 0 0 0 0.005524 0 37 64 ZNF230 7773 broad.mit.edu 37 19 44514653 44514653 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:44514653C>G uc002oyb.1 + 5 713 c.462C>G c.(460-462)ATC>ATG p.I154M NM_006300 NP_006291 Q9UIE0 ZN230_HUMAN zinc finger protein 230 154 KRNB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0352) ATGTTGCCATCTTTGATCCTC 0.448 NaN 0 0 0 0.010818 0 33 146 ZNF284 342909 broad.mit.edu 37 19 44585289 44585289 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:44585289C>T uc002oyg.1 + 3 353 c.137C>T c.(136-138)TCA>TTA p.S46L ZNF284_uc010ejd.2_RNA NM_001037813 NP_001032902 Q2VY69 ZN284_HUMAN zinc finger protein 284 46 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0435) AACCTGCTATCAGTGGGTGAG 0.468 NaN 0 0 0 0.013114 0 48 83 ZNF226 7769 broad.mit.edu 37 19 44676255 44676255 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:44676255C>T uc002oyp.2 + 4 174 c.30C>T c.(28-30)TTC>TTT p.F10F ZNF226_uc002oyn.2_Silent_p.F10F|ZNF226_uc002oyo.2_Silent_p.F10F|ZNF226_uc002oyq.2_5'UTR|ZNF226_uc002oyr.2_5'UTR|ZNF226_uc010ejg.2_Silent_p.F10F|ZNF226_uc002oys.2_Silent_p.F10F|ZNF226_uc002oyt.2_Silent_p.F10F NM_001032373 NP_001027545 Q9NYT6 ZN226_HUMAN zinc finger protein 226 isoform a 10 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0352)|all_neural(266;0.202) CAGTGACCTTCAAGGACGTGG 0.507 NaN 0 0 0 0.01441 0 52 89 PVRL2 5819 broad.mit.edu 37 19 45391385 45391385 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:45391385G>C uc002ozw.1 + 9 1756 c.1366G>C c.(1366-1368)GAG>CAG p.E456Q NM_001042724 NP_001036189 Q92692 PVRL2_HUMAN poliovirus receptor related 2 isoform delta 456 Cytoplasmic (Potential). adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor cell surface|integral to membrane|zonula adherens cell adhesion molecule binding|coreceptor activity|protein homodimerization activity 0 Lung NSC(12;0.00195)|all_lung(12;0.00522) Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0143) TCGATACCATGAGCTGCCCAC 0.572 NaN 0 0 0 0.007413 0 18 77 ERCC2 2068 broad.mit.edu 37 19 45873455 45873455 + Missense_Mutation SNP T T C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 T C T T Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:45873455T>C uc002pbj.2 - 2 88 c.41A>G c.(40-42)TAC>TGC p.Y14C ERCC2_uc010ejz.2_Missense_Mutation_p.Y14C|ERCC2_uc002pbk.2_5'UTR|ERCC2_uc002pbl.3_5'UTR|ERCC2_uc010xxj.1_RNA NM_000400 NP_000391 P18074 ERCC2_HUMAN excision repair cross-complementing rodent 14 Helicase ATP-binding. cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|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|UV protection|viral reproduction cytoplasm|holo TFIIH complex|MMXD complex 5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding lung(2)|pancreas(1) 3 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) GATGTAGTCGTACGGGAAGTA 0.682 NaN Mis|N|F|S skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum 0 0 0 0.001855 0 12 27 SIX5 147912 broad.mit.edu 37 19 46271356 46271356 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:46271356G>A uc002pdb.2 - 1 1142 c.747C>T c.(745-747)TTC>TTT p.F249F SIX5_uc002pdc.2_Silent_p.F249F NM_175875 NP_787071 Q8N196 SIX5_HUMAN SIX homeobox 5 249 Homeobox. cytoplasm|nucleus protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Ovarian(192;0.0308)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235) GCCGGTTCTTGAACCAGTTGC 0.716 NaN 0 0 0 0.000602 0 5 15 PNMAL2 57469 broad.mit.edu 37 19 46997390 46997390 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:46997390C>T uc002pes.2 - 1 1780 c.1333G>A c.(1333-1335)GAA>AAA p.E445K uc002peu.1_5'Flank NM_020709 NP_065760 Q9ULN7 PNML2_HUMAN PNMA-like 2 445 central_nervous_system(1) 1 Ovarian(192;0.00965)|all_neural(266;0.0459) OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427) AGACCCCCTTCGTCCTCACGG 0.642 NaN 0 0 0 0.009535 0 27 50 HSD17B14 51171 broad.mit.edu 37 19 49334955 49334955 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:49334955C>T uc002pkv.1 - 5 605 c.339G>A c.(337-339)CTG>CTA p.L113L HSD17B14_uc010emk.1_Silent_p.L113L NM_016246 NP_057330 Q9BPX1 DHB14_HUMAN dehydrogenase/reductase (SDR family) member 10 113 steroid catabolic process centrosome|cytosol estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NADP+) activity 0 all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000341)|all cancers(93;0.000764)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.0346) CCAGTAGGTTCAGCTCCAGCA 0.607 NaN 0 0 0 0.00278 0 20 98 FTL 2512 broad.mit.edu 37 19 49469600 49469600 + Missense_Mutation SNP G G T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:49469600G>T uc002plo.2 + 3 511 c.312G>T c.(310-312)GAG>GAT p.E104D FTL_uc002pln.1_3'UTR NM_000146 NP_000137 P02792 FRIL_HUMAN ferritin, light polypeptide 104 Ferritin-like diiron. cell death|cellular iron ion homeostasis|cellular membrane organization|iron ion transport|post-Golgi vesicle-mediated transport cytosol|intracellular ferritin complex ferric iron binding|identical protein binding|oxidoreductase activity 0 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000152)|all cancers(93;0.000435)|GBM - Glioblastoma multiforme(486;0.0171)|Epithelial(262;0.0267) Iron Dextran(DB00893) TGGCCCTGGAGAAAAAGCTGA 0.537 NaN 1 0 9.86323e-18 0.003954 1.04101e-17 26 31 TEAD2 8463 broad.mit.edu 37 19 49846565 49846565 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:49846565C>T uc002pnj.2 - 10 1091 c.1000G>A c.(1000-1002)GAG>AAG p.E334K TEAD2_uc002png.2_Missense_Mutation_p.E337K|TEAD2_uc002pnh.2_Missense_Mutation_p.E338K|TEAD2_uc002pni.2_Missense_Mutation_p.E337K|TEAD2_uc010yao.1_Missense_Mutation_p.E206K|TEAD2_uc010emw.2_Missense_Mutation_p.E337K NM_003598 NP_003589 Q15562 TEAD2_HUMAN TEA domain family member 2 334 Transcriptional activation (Potential). hippo signaling cascade DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|ovary(1) 3 all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467) TCCAGGCTCTCATACTGGCTG 0.617 NaN 0 0 0 0.00278 0 19 51 TSKS 60385 broad.mit.edu 37 19 50243401 50243401 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:50243401C>T uc002ppm.2 - 10 1548 c.1537G>A c.(1537-1539)GAG>AAG p.E513K NM_021733 NP_068379 Q9UJT2 TSKS_HUMAN testis-specific kinase substrate 513 protein binding large_intestine(1)|skin(1) 2 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145) CTCAGGGCCTCTGCCCTGACG 0.647 NaN 0 0 0 0.008871 0 17 72 TSKS 60385 broad.mit.edu 37 19 50245148 50245148 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:50245148C>G uc002ppm.2 - 9 1502 c.1491G>C c.(1489-1491)AAG>AAC p.K497N NM_021733 NP_068379 Q9UJT2 TSKS_HUMAN testis-specific kinase substrate 497 protein binding large_intestine(1)|skin(1) 2 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145) GTACCAGAATCTTCTTGTGTA 0.582 NaN 0 0 0 0.013114 0 43 70 IL4I1 259307 broad.mit.edu 37 19 50393764 50393764 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:50393764C>T uc002pqt.1 - 8 945 c.867G>A c.(865-867)GCG>GCA p.A289A IL4I1_uc002pqv.1_Silent_p.A298A|IL4I1_uc010eno.1_Silent_p.A297A|IL4I1_uc002pqw.1_Silent_p.A297A|IL4I1_uc002pqu.1_Silent_p.A311A NM_152899 NP_690863 Q96RQ9 OXLA_HUMAN interleukin 4 induced 1 isoform 1 precursor 289 lysosome L-amino-acid oxidase activity lung(1)|ovary(1)|prostate(1) 3 all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481) GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169) CCTGGGTCATCGCCACCACGG 0.682 NaN OREG0025629 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.004672 0 3 14 NUP62 23636 broad.mit.edu 37 19 50412045 50412045 + Missense_Mutation SNP C C A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:50412045C>A uc002pqx.2 - 2 1124 c.1020G>T c.(1018-1020)TGG>TGT p.W340C IL4I1_uc002pqv.1_Intron|IL4I1_uc010eno.1_Intron|IL4I1_uc002pqw.1_Intron|IL4I1_uc002pqu.1_Intron|NUP62_uc002pqy.2_Missense_Mutation_p.W340C|NUP62_uc002pqz.2_Missense_Mutation_p.W340C|NUP62_uc002pra.2_Missense_Mutation_p.W340C|NUP62_uc002prb.2_Missense_Mutation_p.W340C|NUP62_uc002prc.2_Intron NM_153719 NP_714941 P37198 NUP62_HUMAN nucleoporin 62kDa 340 Potential. carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding 0 all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481) GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) GCTCCAGGCTCCATTTGTTGA 0.647 NaN 1 0 2.73361e-28 0.01441 2.89787e-28 66 99 JOSD2 126119 broad.mit.edu 37 19 51009492 51009492 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:51009492C>T uc002psn.1 - 5 536 c.505G>A c.(505-507)GAG>AAG p.E169K JOSD2_uc002pso.1_Missense_Mutation_p.E169K|JOSD2_uc002psp.1_Missense_Mutation_p.E169K|JOSD2_uc002psq.1_Missense_Mutation_p.E127K NM_138334 NP_612207 Q8TAC2 JOS2_HUMAN Josephin domain containing 2 169 Josephin. protein deubiquitination ubiquitin-specific protease activity 0 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0364) AGCAGCACCTCGCACAGGCCC 0.682 NaN 0 0 0 0.001168 0 6 42 SHANK1 50944 broad.mit.edu 37 19 51219555 51219555 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:51219555C>G uc002psx.1 - 2 455 c.436G>C c.(436-438)GAG>CAG p.E146Q NM_016148 NP_057232 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 146 cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding large_intestine(2) 2 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) ACCCCCTTCTCAAAGGACTGG 0.582 NaN 0 0 0 0.01441 0 47 75 KLK11 11012 broad.mit.edu 37 19 51527533 51527533 + Silent SNP G G T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:51527533G>T uc002pvd.1 - 4 439 c.327C>A c.(325-327)CTC>CTA p.L109L KLK11_uc002pvb.1_Silent_p.L102L|KLK11_uc002pve.1_5'UTR|KLK11_uc002pvf.1_Silent_p.L77L|KLK11_uc002pvc.3_Silent_p.L77L|KLK11_uc010eom.2_Missense_Mutation_p.P79T NM_144947 NP_659196 Q9UBX7 KLK11_HUMAN kallikrein 11 isoform 2 precursor 109 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity 0 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878) CCTCCTTCTGGAGGTTGTGCT 0.602 NaN 1 0 1.38814e-16 0.01441 1.46226e-16 55 56 SIGLEC10 89790 broad.mit.edu 37 19 51920200 51920200 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:51920200C>T uc002pwo.2 - 3 1042 c.426G>A c.(424-426)CTG>CTA p.L142L SIGLEC10_uc002pwp.2_Intron|SIGLEC10_uc002pwq.2_Intron|SIGLEC10_uc002pwr.2_Silent_p.L142L|SIGLEC10_uc010ycy.1_Silent_p.L142L|SIGLEC10_uc010ycz.1_Intron|SIGLEC10_uc010eow.2_5'UTR|SIGLEC10_uc002pws.1_Intron NM_033130 NP_149121 Q96LC7 SIG10_HUMAN sialic acid binding Ig-like lectin 10 precursor 142 Extracellular (Potential). cell adhesion extracellular region|integral to membrane|plasma membrane sugar binding skin(1) 1 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101) GCTTCTGAGTCAGGGCTGGGA 0.622 NaN 0 0 0 0.01441 0 90 72 ZNF615 284370 broad.mit.edu 37 19 52498046 52498046 + Nonsense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:52498046G>A uc002pye.1 - 6 575 c.283C>T c.(283-285)CAA>TAA p.Q95* ZNF615_uc002pyf.1_Nonsense_Mutation_p.Q106*|ZNF615_uc002pyg.1_5'UTR|ZNF615_uc002pyh.1_Nonsense_Mutation_p.Q106*|ZNF615_uc010epi.1_Nonsense_Mutation_p.Q102*|ZNF615_uc010ydg.1_Nonsense_Mutation_p.Q100* NM_198480 NP_940882 Q8N8J6 ZN615_HUMAN zinc finger protein 615 95 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|skin(1) 5 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019) TGAATACTTTGATTTTGCAAG 0.348 NaN 0 0 0 0.012319 0 21 148 ZNF841 284371 broad.mit.edu 37 19 52568426 52568426 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:52568426G>A uc002pyl.1 - 5 2913 c.2361C>T c.(2359-2361)AAC>AAT p.N787N ZNF841_uc010ydh.1_Silent_p.N903N|ZNF841_uc010epk.1_Silent_p.N479N NM_001136499 NP_001129971 Q6ZN19 ZN841_HUMAN zinc finger protein 841 787 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TAGTTGTAAGGTTCTCTCCAG 0.338 NaN 0 0 0 0.006214 0 9 62 ZNF616 90317 broad.mit.edu 37 19 52618287 52618287 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:52618287G>A uc002pym.2 - 4 2413 c.2130C>T c.(2128-2130)ATC>ATT p.I710I ZNF616_uc002pyn.2_RNA NM_178523 NP_848618 Q08AN1 ZN616_HUMAN zinc finger protein 616 710 C2H2-type 19. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189) CTCCAGTGTGGATTCTCTGGT 0.398 NaN 0 0 0 0.01441 0 50 362 ZNF836 162962 broad.mit.edu 37 19 52659824 52659824 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:52659824G>A uc010ydi.1 - 5 1486 c.1112C>T c.(1111-1113)TCT>TTT p.S371F ZNF836_uc010ydj.1_Missense_Mutation_p.S371F NM_001102657 NP_001096127 Q6ZNA1 ZN836_HUMAN zinc finger protein 836 371 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TACAAGATTAGAATTCTGCCT 0.403 NaN 0 0 0 0.013726 0 34 79 ZNF836 162962 broad.mit.edu 37 19 52663830 52663830 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:52663830G>A uc010ydi.1 - 4 404 c.30C>T c.(28-30)TTC>TTT p.F10F ZNF836_uc010ydj.1_Silent_p.F10F NM_001102657 NP_001096127 Q6ZNA1 ZN836_HUMAN zinc finger protein 836 10 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CTACATCCCTGAATGTCAAAG 0.433 NaN 0 0 0 0.008871 0 20 174 ZNF534 147658 broad.mit.edu 37 19 52937222 52937222 + Missense_Mutation SNP C C A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:52937222C>A uc002pzk.2 + 2 91 c.30C>A c.(28-30)TTC>TTA p.F10L ZNF534_uc002pzj.1_Missense_Mutation_p.F10L|ZNF534_uc010epo.1_Missense_Mutation_p.F10L|ZNF534_uc002pzl.2_Missense_Mutation_p.F10L NM_001143939 NP_001137411 Q76KX8 ZN534_HUMAN zinc finger protein 534 isoform 2 10 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AATTGTCATTCAGCGATGTGG 0.443 NaN 1 0 4.7546e-09 0.004007 4.92952e-09 13 159 ZNF578 147660 broad.mit.edu 37 19 53014288 53014288 + Silent SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:53014288C>G uc002pzp.3 + 6 898 c.654C>G c.(652-654)CTC>CTG p.L218L NM_001099694 NP_001093164 Q96N58 ZN578_HUMAN zinc finger protein 578 133 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01) CATCATTACTCACACAAAAAC 0.348 NaN 0 0 0 0.004656 0 27 213 ZNF320 162967 broad.mit.edu 37 19 53384869 53384869 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:53384869G>C uc002qag.2 - 4 701 c.510C>G c.(508-510)TTC>TTG p.F170L ZNF320_uc010eqh.1_5'Flank|ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.2_Missense_Mutation_p.F116L|ZNF320_uc002qai.2_Missense_Mutation_p.F170L NM_207333 NP_997216 A2RRD8 ZN320_HUMAN zinc finger protein 320 170 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.0534) ATTTGCAACTGAAAACTTTCT 0.358 NaN 0 0 0 0.003163 0 15 205 ZNF347 84671 broad.mit.edu 37 19 53644301 53644301 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:53644301C>T uc002qbb.1 - 5 1849 c.1780G>A c.(1780-1782)GAG>AAG p.E594K ZNF347_uc010eql.1_Missense_Mutation_p.E595K|ZNF347_uc002qbc.1_Missense_Mutation_p.E595K NM_032584 NP_115973 Q96SE7 ZN347_HUMAN zinc finger protein 347 594 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.0179) TAAGGTTTCTCTCCAGTATGA 0.398 NaN 0 0 0 0.011902 0 46 353 ZNF347 84671 broad.mit.edu 37 19 53656992 53656992 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:53656992G>A uc002qbb.1 - 2 78 c.9C>T c.(7-9)CTC>CTT p.L3L ZNF347_uc010eql.1_Silent_p.L3L|ZNF347_uc002qbc.1_Silent_p.L3L NM_032584 NP_115973 Q96SE7 ZN347_HUMAN zinc finger protein 347 3 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.0179) TTACCTGGGTGAGAGCCATGC 0.398 NaN 0 0 0 0.010818 0 28 238 CACNG8 59283 broad.mit.edu 37 19 54483190 54483190 + Missense_Mutation SNP T T G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:54483190T>G uc002qcs.1 + 3 540 c.434T>G c.(433-435)GTG>GGG p.V145G MIR935_hsa-mir-935|MI0005757_5'Flank NM_031895 NP_114101 Q8WXS5 CCG8_HUMAN voltage-dependent calcium channel gamma-8 146 Helical; (Potential). regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity 0 all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.162) GGTGTGTGCGTGGCGGCCTCC 0.647 NaN 0 0 0 0.00308 0 7 17 PRPF31 26121 broad.mit.edu 37 19 54628017 54628017 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:54628017C>T uc002qdh.2 + 8 1233 c.837C>T c.(835-837)ATC>ATT p.I279I PRPF31_uc010yek.1_Silent_p.I279I NM_015629 NP_056444 Q8WWY3 PRP31_HUMAN pre-mRNA processing factor 31 homolog 279 Nop. assembly of spliceosomal tri-snRNP Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP RNA binding|snRNP binding p.I279I(1) ovary(1) 1 all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) ACAGTGACATCGTGCAGTCCC 0.672 NaN 0 0 0 0.001984 0 7 64 CNOT3 4849 broad.mit.edu 37 19 54649696 54649696 + Nonsense_Mutation SNP G G T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:54649696G>T uc002qdj.1 + 9 1065 c.754G>T c.(754-756)GAG>TAG p.E252* CNOT3_uc010yel.1_Nonsense_Mutation_p.E252*|CNOT3_uc002qdi.2_Nonsense_Mutation_p.E165*|CNOT3_uc002qdk.1_Nonsense_Mutation_p.E252*|CNOT3_uc010ere.1_RNA NM_014516 NP_055331 O75175 CNOT3_HUMAN CCR4-NOT transcription complex, subunit 3 252 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CATGGAGGATGAGATCTTCAA 0.642 NaN 1 0 1.10513e-12 0.014323 1.15629e-12 17 73 TMC4 147798 broad.mit.edu 37 19 54664083 54664083 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:54664083C>T uc010erf.2 - 15 2231 c.2099G>A c.(2098-2100)CGG>CAG p.R700Q LENG1_uc002qdm.2_5'Flank|TMC4_uc002qdn.2_Missense_Mutation_p.R414Q|TMC4_uc002qdo.2_Missense_Mutation_p.R694Q NM_001145303 NP_001138775 Q7Z404 TMC4_HUMAN transmembrane channel-like 4 isoform 1 700 Cytoplasmic (Potential). integral to membrane pancreas(1) 1 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CACAGCGCGCCGTGCCAGGAA 0.572 NaN 0 0 0 0.009535 0 30 235 TMC4 147798 broad.mit.edu 37 19 54666432 54666432 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:54666432G>A uc010erf.2 - 10 1626 c.1494C>T c.(1492-1494)GTC>GTT p.V498V LENG1_uc002qdm.2_5'Flank|TMC4_uc002qdn.2_Silent_p.V212V|TMC4_uc002qdo.2_Silent_p.V492V NM_001145303 NP_001138775 Q7Z404 TMC4_HUMAN transmembrane channel-like 4 isoform 1 498 Helical; (Potential). integral to membrane pancreas(1) 1 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) TGAGCAGCGCGACTGCCAAGA 0.547 NaN 0 0 0 0.009096 0 4 36 LILRA5 353514 broad.mit.edu 37 19 54823808 54823808 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:54823808G>A uc002qfe.2 - 2 207 c.87C>T c.(85-87)CTC>CTT p.L29L LILRA5_uc002qff.2_Silent_p.L29L|LILRA5_uc010yev.1_Silent_p.L29L|LILRA5_uc010yew.1_Silent_p.L29L|LILRA5_uc002qfh.1_Silent_p.L29L|LILRA5_uc002qfg.1_Silent_p.L29L NM_021250 NP_067073 A6NI73 LIRA5_HUMAN leukocyte immunoglobulin-like receptor subfamily 29 innate immune response extracellular region|integral to membrane receptor activity upper_aerodigestive_tract(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CAATCTCACCGAGGCAGAGCA 0.602 NaN 0 0 0 0.004482 0 8 71 LENG9 94059 broad.mit.edu 37 19 54973372 54973372 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:54973372G>A uc010yez.1 - 1 1523 c.1404C>T c.(1402-1404)CTC>CTT p.L468L NM_198988 NP_945339 Q96B70 LENG9_HUMAN leukocyte receptor cluster (LRC) member 9 468 RNA metabolic process intracellular catalytic activity|nucleic acid binding|zinc ion binding 0 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.134) CTTCCTGGCTGAGGGTGAACT 0.647 NaN 0 0 0 0.01441 0 92 96 NLRP2 55655 broad.mit.edu 37 19 55508802 55508802 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:55508802G>A uc002qij.2 + 12 3083 c.2997G>A c.(2995-2997)GTG>GTA p.V999V NLRP2_uc010yfp.1_Silent_p.V976V|NLRP2_uc010esn.2_Silent_p.V975V|NLRP2_uc010eso.2_Silent_p.V996V|NLRP2_uc010esp.2_Silent_p.V977V NM_017852 NP_060322 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 999 LRR 7. apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) CTAGTGGAGTGAAGATGCTGT 0.537 NaN 0 0 0 0.01441 0 187 158 C19orf51 352909 broad.mit.edu 37 19 55670468 55670468 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:55670468G>A uc002qji.1 - 12 1622 c.1588C>T c.(1588-1590)CCG>TCG p.P530S TNNI3_uc002qjg.3_5'Flank|TNNI3_uc010yft.1_5'Flank|C19orf51_uc002qjh.1_Missense_Mutation_p.P345S|C19orf51_uc002qjj.1_Missense_Mutation_p.P577S|C19orf51_uc002qjk.1_Missense_Mutation_p.P476S|C19orf51_uc002qjl.1_Missense_Mutation_p.P597S Q8N9W5 CS051_HUMAN RecName: Full=UPF0470 protein C19orf51; 530 0 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) CAGTTGGGCGGAGCCAAGGCC 0.587 NaN 0 0 0 0.01441 0 52 31 SYT5 6861 broad.mit.edu 37 19 55686347 55686347 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:55686347G>C uc002qjm.1 - 6 1789 c.729C>G c.(727-729)ATC>ATG p.I243M SYT5_uc002qjp.2_Missense_Mutation_p.I239M|SYT5_uc002qjn.1_Missense_Mutation_p.I243M|SYT5_uc002qjo.1_Missense_Mutation_p.I242M NM_003180 NP_003171 O00445 SYT5_HUMAN synaptotagmin V 243 Cytoplasmic (Potential). energy reserve metabolic process|regulation of insulin secretion|synaptic transmission cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane metal ion binding|transporter activity 0 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0452) GGGAGAAGCAGATGTCCCCAA 0.607 NaN 0 0 0 0.01441 0 68 28 UBE2S 27338 broad.mit.edu 37 19 55912936 55912936 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:55912936G>A uc002qkx.1 - 4 905 c.537C>T c.(535-537)TCC>TCT p.S179S NM_014501 NP_055316 Q16763 UBE2S_HUMAN ubiquitin-conjugating enzyme E2S 179 activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|exit from mitosis|free ubiquitin chain polymerization|protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination anaphase-promoting complex ATP binding|ubiquitin-protein ligase activity 0 Breast(117;0.155) LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.11) CAGGGTCGGTGGAGGAAGCTT 0.711 NaN 0 0 0 0.000602 0 3 30 NLRP4 147945 broad.mit.edu 37 19 56369323 56369323 + Missense_Mutation SNP C C A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:56369323C>A uc002qmd.3 + 3 986 c.564C>A c.(562-564)TTC>TTA p.F188L NLRP4_uc002qmf.2_Missense_Mutation_p.F113L|NLRP4_uc010etf.2_Missense_Mutation_p.F19L NM_134444 NP_604393 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 188 NACHT. ATP binding ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1) 15 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) CGTTCTATTTCTGCTGCAGAG 0.507 NaN 1 0 1.01871e-10 0.008871 1.06177e-10 21 225 ZNF71 58491 broad.mit.edu 37 19 57132856 57132856 + Silent SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:57132856C>G uc002qnm.3 + 3 439 c.201C>G c.(199-201)CTC>CTG p.L67L NM_021216 NP_067039 Q9NQZ8 ZNF71_HUMAN zinc finger protein 71 67 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18) GGAACAAACTCTTAGGGGGCT 0.607 NaN 0 0 0 0.006214 0 9 73 AURKC 6795 broad.mit.edu 37 19 57743573 57743573 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:57743573G>C uc002qoe.2 + 3 466 c.277G>C c.(277-279)GAG>CAG p.E93Q AURKC_uc002qoc.2_Missense_Mutation_p.E74Q|AURKC_uc002qod.2_Missense_Mutation_p.E59Q|AURKC_uc010etv.2_Missense_Mutation_p.E90Q NM_001015878 NP_001015878 Q9UQB9 AURKC_HUMAN aurora kinase C isoform 1 93 Protein kinase. cell cycle|cytokinesis condensed chromosome|cytoplasm|midbody|spindle midzone ATP binding|protein serine/threonine kinase activity lung(4)|ovary(2) 6 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122) CCGGGAAATTGAGATCCAGGC 0.507 NaN 0 0 0 0.004482 0 8 97 ZNF548 147694 broad.mit.edu 37 19 57911012 57911012 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:57911012G>C uc002qom.2 + 3 1607 c.1357G>C c.(1357-1359)GAG>CAG p.E453Q ZNF547_uc002qpm.3_Intron|ZNF548_uc002qon.2_Missense_Mutation_p.E456Q NM_152909 NP_690873 Q8NEK5 ZN548_HUMAN zinc finger protein 548 453 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CGAGTGCAGAGAGTGTGGGAA 0.463 NaN 0 0 0 0.013537 0 13 113 ZSCAN4 201516 broad.mit.edu 37 19 58187526 58187526 + Missense_Mutation SNP C C A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:58187526C>A uc002qpu.2 + 3 710 c.13C>A c.(13-15)CTA>ATA p.L5I NM_152677 NP_689890 Q8NAM6 ZSCA4_HUMAN zinc finger and SCAN domain containing 4 5 telomere maintenance via telomere lengthening|viral reproduction nuclear chromosome, telomeric region DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GGCTTTAGATCTAAGAACCAT 0.398 NaN 1 0 2.94398e-08 0.007413 3.04067e-08 19 116 ZNF417 147687 broad.mit.edu 37 19 58421054 58421054 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:58421054C>T uc002qqq.2 - 3 791 c.592G>A c.(592-594)GAA>AAA p.E198K ZNF417_uc010yhm.1_Missense_Mutation_p.E155K|ZNF417_uc002qqr.2_Missense_Mutation_p.E197K NM_152475 NP_689688 Q8TAU3 ZN417_HUMAN zinc finger protein 417 198 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;0.0151) TGCATAGTTTCACTGTCTGTC 0.488 NaN 0 0 0 0.011902 0 37 69 ZNF256 10172 broad.mit.edu 37 19 58452322 58452322 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:58452322G>A uc002qqu.2 - 3 2089 c.1854C>T c.(1852-1854)CTC>CTT p.L618L ZNF256_uc010euj.2_Silent_p.L465L NM_005773 NP_005764 Q9Y2P7 ZN256_HUMAN zinc finger protein 256 618 C2H2-type 15. multicellular organismal development|negative regulation of transcription, DNA-dependent nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding upper_aerodigestive_tract(1)|skin(1) 2 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;0.0155) GATGTTTTAGGAGGTTGGAGT 0.428 NaN 0 0 0 0.014323 0 21 74 ZNF256 10172 broad.mit.edu 37 19 58453721 58453721 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:58453721C>G uc002qqu.2 - 3 690 c.455G>C c.(454-456)AGA>ACA p.R152T ZNF256_uc010euj.2_5'UTR NM_005773 NP_005764 Q9Y2P7 ZN256_HUMAN zinc finger protein 256 152 multicellular organismal development|negative regulation of transcription, DNA-dependent nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding upper_aerodigestive_tract(1)|skin(1) 2 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;0.0155) AAACATGTCTCTGCCCCCATT 0.458 NaN 0 0 0 0.013726 0 34 100 ZNF544 27300 broad.mit.edu 37 19 58773587 58773587 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:58773587C>G uc010euo.2 + 7 2089 c.1615C>G c.(1615-1617)CAG>GAG p.Q539E ZNF544_uc010yhw.1_Intron|ZNF544_uc010yhx.1_Missense_Mutation_p.Q511E|ZNF544_uc010yhy.1_Missense_Mutation_p.Q511E|ZNF544_uc002qrt.3_Missense_Mutation_p.Q397E|ZNF544_uc002qru.3_Missense_Mutation_p.Q397E|uc002qrx.1_Intron NM_014480 NP_055295 Q6NX49 ZN544_HUMAN zinc finger protein 544 539 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018) TATTACGCATCAGCGAATTCA 0.443 NaN 0 0 0 0.01441 0 57 52 MYT1L 23040 broad.mit.edu 37 2 1893096 1893096 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:1893096C>T uc002qxe.2 - 16 3264 c.2437G>A c.(2437-2439)GAG>AAG p.E813K MYT1L_uc002qxd.2_Missense_Mutation_p.E811K|MYT1L_uc010ewl.1_RNA NM_015025 NP_055840 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 813 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) CAGTCGCCCTCGCCCAGCTGG 0.587 NaN 0 0 0 0.00278 0 23 92 ASAP2 8853 broad.mit.edu 37 2 9540887 9540887 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:9540887G>A uc002qzh.2 + 26 3091 c.2751G>A c.(2749-2751)ACG>ACA p.T917T ASAP2_uc002qzi.2_Silent_p.T872T NM_003887 NP_003878 O43150 ASAP2_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH 917 Pro-rich. regulation of ARF GTPase activity Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|protein binding|zinc ion binding 0 TCTCTGCAACGGAAGCTCTGG 0.532 NaN 0 0 0 0.010729 0 11 62 ITGB1BP1 9270 broad.mit.edu 37 2 9552439 9552439 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:9552439C>G uc002qzj.2 - 4 424 c.247G>C c.(247-249)GAA>CAA p.E83Q ITGB1BP1_uc002qzk.2_Missense_Mutation_p.E83Q|ITGB1BP1_uc002qzl.2_RNA|ITGB1BP1_uc002qzm.2_RNA|ITGB1BP1_uc010yiy.1_Missense_Mutation_p.E39Q|ITGB1BP1_uc002qzn.1_Missense_Mutation_p.E83Q NM_004763 NP_004754 O14713 ITBP1_HUMAN integrin cytoplasmic domain-associated protein 1 83 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) AATGGCCCTTCAAGGCCTTTT 0.403 NaN 0 0 0 0.00278 0 25 124 ADAM17 6868 broad.mit.edu 37 2 9695720 9695720 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:9695720G>A uc002qzu.2 - 1 198 c.15C>T c.(13-15)CTC>CTT p.L5L ADAM17_uc010ewy.2_Silent_p.L5L|ADAM17_uc010ewz.2_Silent_p.L5L|ADAM17_uc010exb.1_Silent_p.L5L|ADAM17_uc002qzv.2_Silent_p.L5L NM_003183 NP_003174 P78536 ADA17_HUMAN a disintegrin and metalloprotease domain 17 5 B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding lung(1)|kidney(1) 2 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.225) TCAGGAATAGGAGAGACTGCC 0.647 NaN OREG0014419 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.009096 0 3 10 GRHL1 29841 broad.mit.edu 37 2 10101494 10101494 + Nonsense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:10101494C>T uc002raa.2 + 4 769 c.598C>T c.(598-600)CAA>TAA p.Q200* GRHL1_uc002rab.2_RNA|GRHL1_uc002rad.2_Silent_p.L36L|GRHL1_uc010yjb.1_Nonsense_Mutation_p.Q49* NM_198182 NP_937825 Q9NZI5 GRHL1_HUMAN grainyhead-like 1 200 cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi apparatus|nucleus DNA binding pancreas(1)|skin(1) 2 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246) CTCTGGTGCTCAAGCCCCAAA 0.522 NaN 0 0 0 0.009718 0 40 143 KLF11 8462 broad.mit.edu 37 2 10187963 10187963 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:10187963C>T uc002raf.1 + 3 661 c.499C>T c.(499-501)CCC>TCC p.P167S KLF11_uc010yjc.1_Missense_Mutation_p.P150S NM_003597 NP_003588 O14901 KLF11_HUMAN Kruppel-like factor 11 167 apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle nucleus sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(2) 2 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228) GCCCAGCTCTCCCTGCAGGGC 0.637 NaN 0 0 0 0.014323 0 23 79 HPCAL1 3241 broad.mit.edu 37 2 10559935 10559935 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:10559935G>A uc002raj.2 + 3 426 c.52G>A c.(52-54)GAG>AAG p.E18K HPCAL1_uc002rak.2_Missense_Mutation_p.E18K|HPCAL1_uc002ral.2_Missense_Mutation_p.E18K|HPCAL1_uc010exe.2_RNA|HPCAL1_uc010exf.2_Missense_Mutation_p.E18K NM_002149 NP_002140 P37235 HPCL1_HUMAN hippocalcin-like 1 18 calcium ion binding pancreas(1) 1 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.214) GGACCTGCGGGAGAACACGGA 0.647 NaN 0 0 0 0.013726 0 31 10 LPIN1 23175 broad.mit.edu 37 2 11964910 11964910 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:11964910C>T uc010yjn.1 + 21 2940 c.2666C>T c.(2665-2667)TCA>TTA p.S889L LPIN1_uc010yjm.1_Missense_Mutation_p.S974L|LPIN1_uc002rbt.2_Missense_Mutation_p.S889L|LPIN1_uc010yjo.1_Missense_Mutation_p.S390L NM_145693 NP_663731 Q14693 LPIN1_HUMAN lipin 1 889 fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization cytosol|endoplasmic reticulum membrane phosphatidate phosphatase activity ovary(2)|large_intestine(1)|skin(1) 4 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173) CATTCTGCCTCAGCGTAAAAT 0.517 NaN 0 0 0 0.01441 0 63 34 NBAS 51594 broad.mit.edu 37 2 15415689 15415689 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:15415689C>T uc002rcc.1 - 44 5669 c.5643G>A c.(5641-5643)ATG>ATA p.M1881I NBAS_uc010exl.1_Missense_Mutation_p.M953I|NBAS_uc002rcd.1_RNA NM_015909 NP_056993 A2RRP1 NBAS_HUMAN neuroblastoma-amplified protein 1881 ovary(2)|liver(1)|skin(1) 4 CAAAGTACTTCATGCAGACAT 0.448 NaN 0 0 0 0.01441 0 65 25 APOB 338 broad.mit.edu 37 2 21233209 21233209 + Silent SNP A A G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:21233209A>G uc002red.2 - 26 6659 c.6531T>C c.(6529-6531)TAT>TAC p.Y2177Y NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 2177 Heparin-binding. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) ATTGTATCATATATGTCTGCA 0.234 NaN 0 0 0 0.01441 0 50 31 APOB 338 broad.mit.edu 37 2 21233218 21233218 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:21233218C>T uc002red.2 - 26 6650 c.6522G>A c.(6520-6522)CTG>CTA p.L2174L NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 2174 Heparin-binding. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TATATGTCTGCAGTTGAGATA 0.254 NaN 0 0 0 0.01441 0 45 31 MFSD2B 388931 broad.mit.edu 37 2 24236211 24236211 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:24236211G>A uc002reo.1 + 2 167 c.153G>A c.(151-153)GGG>GGA p.G51G MFSD2B_uc010exz.1_RNA NM_001080473 NP_001073942 A6NFX1 MFS2B_HUMAN major facilitator superfamily domain containing 51 transport integral to membrane ovary(2) 2 GCATTGGTGGGGTCCCCAACC 0.547 NaN 0 0 0 0.000602 0 5 19 C2orf84 653140 broad.mit.edu 37 2 24398440 24398440 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:24398440G>C uc002rfc.2 + 2 177 c.91G>C c.(91-93)GAG>CAG p.E31Q C2orf84_uc010eyc.2_RNA NM_001040710 NP_001035800 Q86W67 CB084_HUMAN hypothetical protein LOC653140 31 0 TTCTTTAATGGAGGTGAGATA 0.483 NaN 0 0 0 0.009535 0 32 30 ADCY3 109 broad.mit.edu 37 2 25047259 25047259 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:25047259C>T uc002rfs.3 - 16 2923 c.2724G>A c.(2722-2724)AAG>AAA p.K908K ADCY3_uc002rfr.3_Silent_p.K495K|ADCY3_uc010ykm.1_Silent_p.K909K NM_004036 NP_004027 O60266 ADCY3_HUMAN adenylate cyclase 3 908 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|sensory perception of smell|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to plasma membrane ATP binding|calmodulin binding|metal ion binding breast(3)|ovary(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203) CATCTCTCTTCTTGGACCCCA 0.582 NaN 0 0 0 0.006999 0 40 27 DTNB 1838 broad.mit.edu 37 2 25705718 25705718 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:25705718C>T uc002rgh.2 - 10 1276 c.1026G>A c.(1024-1026)ATG>ATA p.M342I DTNB_uc002rgg.2_Missense_Mutation_p.M1I|DTNB_uc010yko.1_Missense_Mutation_p.M285I|DTNB_uc010ykp.1_Missense_Mutation_p.M138I|DTNB_uc002rgo.2_Missense_Mutation_p.M163I|DTNB_uc002rgi.2_Missense_Mutation_p.M342I|DTNB_uc002rgj.2_Missense_Mutation_p.M342I|DTNB_uc002rgk.2_Missense_Mutation_p.M342I|DTNB_uc002rgl.2_Missense_Mutation_p.M342I|DTNB_uc002rgq.2_Missense_Mutation_p.M342I|DTNB_uc002rgm.2_Missense_Mutation_p.M342I|DTNB_uc002rgn.2_Missense_Mutation_p.M138I|DTNB_uc002rgr.1_Missense_Mutation_p.M331I|DTNB_uc010ykq.1_Missense_Mutation_p.M195I NM_021907 NP_068707 O60941 DTNB_HUMAN dystrobrevin, beta isoform 1 342 cytoplasm calcium ion binding|zinc ion binding large_intestine(2)|ovary(2) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGGTGTCATTCATATTAGTCA 0.468 NaN 0 0 0 0.01441 0 45 29 ASXL2 55252 broad.mit.edu 37 2 26029124 26029124 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:26029124C>T uc002rgs.2 - 3 447 c.226G>A c.(226-228)GGT>AGT p.G76S NM_018263 NP_060733 Q76L83 ASXL2_HUMAN additional sex combs like 2 76 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding pancreas(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCCATTCTACCTGGAACCTTA 0.398 NaN 0 0 0 0.000602 0 5 36 OTOF 9381 broad.mit.edu 37 2 26726693 26726693 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:26726693G>A uc002rhk.2 - 6 657 c.530C>T c.(529-531)TCC>TTC p.S177F OTOF_uc010ylb.1_RNA NM_194248 NP_919224 Q9HC10 OTOF_HUMAN otoferlin isoform a 177 Cytoplasmic (Potential). cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTTCATGGCGGAGAACACGCT 0.632 NaN 0 0 0 0.003163 0 16 77 TMEM214 54867 broad.mit.edu 37 2 27258840 27258840 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:27258840G>A uc002ria.3 + 5 750 c.640G>A c.(640-642)GAG>AAG p.E214K TMEM214_uc010yle.1_RNA|TMEM214_uc002rib.3_Missense_Mutation_p.E169K NM_017727 NP_060197 Q6NUQ4 TM214_HUMAN transmembrane protein 214 isoform 1 214 integral to membrane protein binding 0 CTCTCCAGGGGAGTCACTACA 0.527 NaN 0 0 0 0.00245 0 12 81 SLC5A6 8884 broad.mit.edu 37 2 27427346 27427346 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:27427346G>C uc002rjd.2 - 9 1379 c.988C>G c.(988-990)CAG>GAG p.Q330E SLC5A6_uc010eyv.1_Missense_Mutation_p.Q330E NM_021095 NP_066918 Q9Y289 SC5A6_HUMAN solute carrier family 5 (sodium-dependent 330 biotin metabolic process|pantothenate metabolic process integral to plasma membrane|membrane fraction sodium-dependent multivitamin transmembrane transporter activity ovary(2) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Biotin(DB00121)|Lipoic Acid(DB00166) GGGGCTGCCTGAGCCTGCTGA 0.572 NaN 0 0 0 0.00245 0 14 73 SLC5A6 8884 broad.mit.edu 37 2 27430496 27430496 + Nonsense_Mutation SNP G G T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:27430496G>T uc002rjd.2 - 3 414 c.23C>A c.(22-24)TCA>TAA p.S8* SLC5A6_uc010eyv.1_Nonsense_Mutation_p.S8*|SLC5A6_uc002rje.1_Nonsense_Mutation_p.S8* NM_021095 NP_066918 Q9Y289 SC5A6_HUMAN solute carrier family 5 (sodium-dependent 8 biotin metabolic process|pantothenate metabolic process integral to plasma membrane|membrane fraction sodium-dependent multivitamin transmembrane transporter activity ovary(2) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Biotin(DB00121)|Lipoic Acid(DB00166) AAGAGGGGCTGAGGTGCTCAC 0.587 NaN 1 0 1.58986e-06 0.008291 1.63198e-06 10 57 CAD 790 broad.mit.edu 37 2 27463781 27463781 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:27463781G>A uc002rji.2 + 36 5758 c.5596G>A c.(5596-5598)GAG>AAG p.E1866K CAD_uc010eyw.2_Missense_Mutation_p.E1803K NM_004341 NP_004332 P27708 PYR1_HUMAN carbamoylphosphate synthetase 2/aspartate 1866 Linker. 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) GTTTGCAGCTGAGGAGCCAAA 0.502 NaN 0 0 0 0.003954 0 27 22 PPM1G 5496 broad.mit.edu 37 2 27605009 27605009 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:27605009G>A uc002rkl.2 - 10 1525 c.1418C>T c.(1417-1419)TCA>TTA p.S473L ZNF513_uc002rkj.2_5'Flank|ZNF513_uc002rkk.2_5'Flank|PPM1G_uc002rkm.2_Missense_Mutation_p.S254L NM_002707 NP_002698 O15355 PPM1G_HUMAN protein phosphatase 1G 473 cell cycle arrest|protein dephosphorylation cytoplasm|nucleus|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity ovary(1) 1 Acute lymphoblastic leukemia(172;0.155) CACAATGGATGACAATAACCG 0.483 NaN 0 0 0 0.004007 0 16 71 BRE 9577 broad.mit.edu 37 2 28152708 28152708 + Silent SNP A A G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:28152708A>G uc002rlr.2 + 4 456 c.138A>G c.(136-138)TCA>TCG p.S46S BRE_uc002rlp.1_Silent_p.S46S|BRE_uc002rlq.2_Silent_p.S46S|BRE_uc002rls.2_Silent_p.S46S|BRE_uc002rlt.2_Silent_p.S46S|BRE_uc002rlu.2_Silent_p.S46S|BRE_uc002rlv.2_5'UTR NM_199194 NP_954664 Q9NXR7 BRE_HUMAN brain and reproductive organ-expressed (TNFRSF1A 46 UEV-like 1. apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding lung(1)|kidney(1)|skin(1) 3 Acute lymphoblastic leukemia(172;0.155) GCTGCACATCATTGACTCCTG 0.323 NaN 0 0 0 0.004656 0 25 109 C2orf71 388939 broad.mit.edu 37 2 29295005 29295005 + Nonsense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:29295005G>C uc002rmt.1 - 1 2123 c.2123C>G c.(2122-2124)TCA>TGA p.S708* NM_001029883 NP_001025054 A6NGG8 CB071_HUMAN hypothetical protein LOC388939 708 response to stimulus|visual perception photoreceptor outer segment skin(1) 1 GACCTCTCCTGATGGGATGGC 0.507 NaN 0 0 0 0.010504 0 19 135 CLIP4 79745 broad.mit.edu 37 2 29354254 29354254 + Silent SNP T T C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:29354254T>C uc002rmv.2 + 3 503 c.264T>C c.(262-264)ATT>ATC p.I88I CLIP4_uc002rmu.2_Silent_p.I88I|CLIP4_uc010ezm.1_Silent_p.I88I|CLIP4_uc002rmw.2_RNA|CLIP4_uc010ymn.1_Silent_p.I70I NM_024692 NP_078968 Q8N3C7 CLIP4_HUMAN CAP-GLY domain containing linker protein family, 88 ANK 1. ovary(1) 1 Acute lymphoblastic leukemia(172;0.155) TTGACATTATTGGAAATGAGG 0.338 NaN 0 0 0 0.001168 0 6 189 XDH 7498 broad.mit.edu 37 2 31587029 31587029 + Nonsense_Mutation SNP G G A rs140982129 TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:31587029G>A uc002rnv.1 - 24 2705 c.2626C>T c.(2626-2628)CAG>TAG p.Q876* NM_000379 NP_000370 P47989 XDH_HUMAN xanthine dehydrogenase 876 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity skin(4)|breast(2)|ovary(1)|central_nervous_system(1) 8 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) CTCACACTCTGAGAGAGATCC 0.572 NaN 0 0 0 0.00308 0 8 54 BIRC6 57448 broad.mit.edu 37 2 32640622 32640622 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:32640622G>A uc010ezu.2 + 10 2397 c.2263G>A c.(2263-2265)GAA>AAA p.E755K NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 755 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) ATGCCCTGTTGAATCCTTGAG 0.398 NaN 0 0 0 0.00245 0 14 79 BIRC6 57448 broad.mit.edu 37 2 32743450 32743450 + Nonsense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:32743450C>T uc010ezu.2 + 56 11613 c.11479C>T c.(11479-11481)CAG>TAG p.Q3827* NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 3827 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) AATGTTTCTTCAGTCTCCATG 0.368 NaN 0 0 0 0.003163 0 15 79 BIRC6 57448 broad.mit.edu 37 2 32770731 32770731 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:32770731C>T uc010ezu.2 + 63 12748 c.12614C>T c.(12613-12615)TCA>TTA p.S4205L NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 4205 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) CAATCTCCATCAGCCAATGTG 0.393 NaN 0 0 0 0.01441 0 56 288 GALM 130589 broad.mit.edu 37 2 38960689 38960689 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:38960689C>T uc002rqy.2 + 7 1263 c.1011C>T c.(1009-1011)TTC>TTT p.F337F NM_138801 NP_620156 Q96C23 GALM_HUMAN galactose mutarotase 337 hexose metabolic process cytoplasm aldose 1-epimerase activity|carbohydrate binding 0 all_hematologic(82;0.248) CCACCTGGTTCAAGTTTTCTG 0.527 NaN 0 0 0 0.01441 0 88 104 SLC3A1 6519 broad.mit.edu 37 2 44539852 44539852 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:44539852G>A uc002ruc.3 + 8 1538 c.1460G>A c.(1459-1461)GGA>GAA p.G487E SLC3A1_uc002rtz.2_Missense_Mutation_p.G487E|SLC3A1_uc002rua.2_Missense_Mutation_p.G487E|SLC3A1_uc002rub.2_Missense_Mutation_p.G487E|SLC3A1_uc002rud.3_Missense_Mutation_p.G209E|SLC3A1_uc002rue.3_Missense_Mutation_p.G107E NM_000341 NP_000332 Q07837 SLC31_HUMAN solute carrier family 3, member 1 487 Extracellular (Potential). carbohydrate metabolic process|cellular amino acid metabolic process|ion transport integral to plasma membrane|membrane fraction basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity 0 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) L-Cystine(DB00138) ATTGGAATGGGAAATATTGTA 0.353 NaN 0 0 0 0.006214 0 9 65 ERLEC1 27248 broad.mit.edu 37 2 54028617 54028617 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:54028617G>A uc002rxl.2 + 7 889 c.609G>A c.(607-609)CAG>CAA p.Q203Q ASB3_uc002rxi.3_Intron|ERLEC1_uc002rxm.2_Silent_p.Q203Q|ERLEC1_uc002rxn.2_Silent_p.Q203Q NM_015701 NP_056516 Q96DZ1 ERLEC_HUMAN erlectin isoform 1 203 ER-associated protein catabolic process endoplasmic reticulum lumen glycoprotein binding|protein binding ovary(2) 2 GTTTGAAACAGAACCGGCCCA 0.373 NaN 0 0 0 0.01441 0 47 88 SPTBN1 6711 broad.mit.edu 37 2 54882285 54882285 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:54882285C>T uc002rxu.2 + 28 6150 c.5901C>T c.(5899-5901)TTC>TTT p.F1967F SPTBN1_uc002rxx.2_Silent_p.F1954F|SPTBN1_uc002rxy.2_Silent_p.F112F|SPTBN1_uc010you.1_5'Flank NM_003128 NP_003119 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 isoform 1 1967 Spectrin 16.|Interaction with ANK2. 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) ATGACAGTTTCACAACCTGCA 0.423 NaN 0 0 0 0.001855 0 14 67 RTN4 57142 broad.mit.edu 37 2 55252388 55252388 + Silent SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:55252388G>C uc002rye.2 - 3 3145 c.2847C>G c.(2845-2847)CTC>CTG p.L949L RTN4_uc002ryd.2_Silent_p.L743L|RTN4_uc002ryf.2_Intron|RTN4_uc002ryg.2_Intron NM_020532 NP_065393 Q9NQC3 RTN4_HUMAN reticulon 4 isoform A 949 Cytoplasmic (Potential). apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane protein binding ovary(2)|large_intestine(1) 3 GAGGCAATAAGAGCACCTTTG 0.393 NaN 0 0 0 0.01441 0 94 92 RTN4 57142 broad.mit.edu 37 2 55253818 55253818 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:55253818C>T uc002rye.2 - 3 1715 c.1417G>A c.(1417-1419)GAG>AAG p.E473K RTN4_uc002ryd.2_Missense_Mutation_p.E267K|RTN4_uc002ryf.2_Intron|RTN4_uc002ryg.2_Intron NM_020532 NP_065393 Q9NQC3 RTN4_HUMAN reticulon 4 isoform A 473 Cytoplasmic (Potential). apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane protein binding ovary(2)|large_intestine(1) 3 GCAATGCTCTCAGTTGCTGCT 0.388 NaN 0 0 0 0.01441 0 131 215 MTIF2 4528 broad.mit.edu 37 2 55471226 55471226 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:55471226C>T uc002ryn.2 - 12 1987 c.1250G>A c.(1249-1251)GGA>GAA p.G417E MTIF2_uc010yox.1_Missense_Mutation_p.G86E|MTIF2_uc002ryo.2_Missense_Mutation_p.G417E NM_001005369 NP_001005369 P46199 IF2M_HUMAN mitochondrial translational initiation factor 2 417 regulation of translational initiation mitochondrion GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity ovary(1) 1 GCCTGTAATTCCCACTGGCAT 0.393 NaN 0 0 0 0.01441 0 47 40 BCL11A 53335 broad.mit.edu 37 2 60688925 60688925 + Silent SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:60688925G>C uc002sae.1 - 4 1350 c.1122C>G c.(1120-1122)GTC>GTG p.V374V BCL11A_uc002sab.2_Silent_p.V374V|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Intron|BCL11A_uc010ypj.1_Silent_p.V340V|BCL11A_uc002sad.1_Silent_p.V222V|BCL11A_uc002saf.1_Silent_p.V340V NM_022893 NP_075044 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A isoform 1 374 negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|cytoplasm|nucleus|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding central_nervous_system(6)|breast(3)|ovary(2)|skin(2) 13 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) ACTTGGACTTGACCGGGGGCT 0.632 NaN T IGH@ B-CLL 0 0 0 0.008361 0 30 80 B3GNT2 10678 broad.mit.edu 37 2 62449761 62449761 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:62449761G>C uc002sbs.2 + 2 644 c.406G>C c.(406-408)GAT>CAT p.D136H NM_006577 NP_006568 Q9NY97 B3GN2_HUMAN UDP-GlcNAc:betaGal 136 Lumenal (Potential). Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity ovary(1) 1 Lung NSC(7;0.031)|all_lung(7;0.0634) LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963) AGATCAGCCGGATAAGTGTGC 0.463 NaN 0 0 0 0.013114 0 44 257 OTX1 5013 broad.mit.edu 37 2 63282997 63282997 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:63282997C>T uc002scd.2 + 5 859 c.611C>T c.(610-612)TCG>TTG p.S204L OTX1_uc010ypt.1_Missense_Mutation_p.S138L NM_014562 NP_055377 P32242 OTX1_HUMAN orthodenticle homeobox 1 204 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity pancreas(2) 2 Lung NSC(7;0.121)|all_lung(7;0.211) AGCAACACCTCGTGTATGCAG 0.682 NaN 0 0 0 0.008291 0 4 4 AFTPH 54812 broad.mit.edu 37 2 64796344 64796344 + Nonsense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:64796344C>T uc002sdc.2 + 3 2238 c.2206C>T c.(2206-2208)CGA>TGA p.R736* AFTPH_uc002scz.2_Nonsense_Mutation_p.R736*|AFTPH_uc002sda.2_Nonsense_Mutation_p.R736*|AFTPH_uc002sdb.2_Nonsense_Mutation_p.R736* NM_203437 NP_982261 Q6ULP2 AFTIN_HUMAN aftiphilin protein isoform a 736 protein transport AP-1 adaptor complex|cytosol|nucleus clathrin binding ovary(2) 2 AATAGACACCCGAAACATTGT 0.418 NaN 0 0 0 0.012319 0 21 138 GFPT1 2673 broad.mit.edu 37 2 69569358 69569358 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:69569358G>C uc002sfh.2 - 12 1254 c.1075C>G c.(1075-1077)CAC>GAC p.H359D NM_002056 NP_002047 Q06210 GFPT1_HUMAN glucosamine-fructose-6-phosphate 377 SIS 1. dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding skin(1) 1 TCCTTTATGTGATCCTTCAAA 0.358 NaN 0 0 0 0.01441 0 48 232 PCBP1 5093 broad.mit.edu 37 2 70315543 70315543 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:70315543C>T uc002sgf.2 + 1 959 c.668C>T c.(667-669)TCG>TTG p.S223L ASPRV1_uc002sga.2_5'Flank|uc002sgb.1_5'Flank|uc002sgd.2_5'Flank|uc002sge.1_5'Flank NM_006196 NP_006187 Q15365 PCBP1_HUMAN poly(rC) binding protein 1 223 nuclear mRNA splicing, via spliceosome cytoplasm|nucleoplasm|ribonucleoprotein complex protein binding|RNA binding|single-stranded DNA binding 0 GATGCCTACTCGATTCAAGGA 0.607 NaN 0 0 0 0.00278 0 23 29 NAGK 55577 broad.mit.edu 37 2 71297643 71297643 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:71297643G>A uc002shp.3 + 2 447 c.41G>A c.(40-42)CGA>CAA p.R14Q NAGK_uc010fea.2_RNA|NAGK_uc002shq.3_5'UTR|NAGK_uc002shr.2_5'UTR NM_017567 NP_060037 Q9UJ70 NAGK_HUMAN N-Acetylglucosamine kinase 14 N-acetylglucosamine metabolic process|N-acetylmannosamine metabolic process ATP binding|N-acetylglucosamine kinase activity|protein binding 0 N-Acetyl-D-glucosamine(DB00141) GGAGGCACACGATCCGAGGTC 0.527 NaN OREG0014689 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.010729 0 10 35 CCDC142 84865 broad.mit.edu 37 2 74709391 74709391 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:74709391C>T uc002slr.2 - 1 967 c.574G>A c.(574-576)GAG>AAG p.E192K TTC31_uc002sls.2_5'Flank|TTC31_uc010yrv.1_5'Flank|TTC31_uc002slt.2_5'Flank|TTC31_uc002slu.2_5'Flank|CCDC142_uc002slo.2_RNA|CCDC142_uc002slq.2_Missense_Mutation_p.E192K|CCDC142_uc002slp.2_Missense_Mutation_p.E192K NM_032779 NP_116168 Q17RM4 CC142_HUMAN coiled-coil domain containing 142 192 central_nervous_system(1) 1 CTGGCGGGCTCCCGGCCGAGA 0.667 NaN 0 0 0 0.001168 0 6 9 SEMA4F 10505 broad.mit.edu 37 2 74883774 74883774 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:74883774G>C uc002sna.1 + 2 370 c.259G>C c.(259-261)GCT>CCT p.A87P SEMA4F_uc010ysb.1_Missense_Mutation_p.A87P|SEMA4F_uc010ffq.1_Missense_Mutation_p.A87P|SEMA4F_uc010ffr.1_5'UTR|SEMA4F_uc002snb.1_5'UTR|SEMA4F_uc002snc.1_Missense_Mutation_p.A87P NM_004263 NP_004254 O95754 SEM4F_HUMAN semaphorin W precursor 87 Sema.|Extracellular (Potential). cell-cell signaling endoplasmic reticulum|integral to plasma membrane receptor activity ovary(2)|pancreas(1)|skin(1) 4 CACCATCTTCGCTTTATCCCT 0.527 NaN 0 0 0 0.01441 0 54 80 C2orf89 129293 broad.mit.edu 37 2 85108116 85108116 + Silent SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:85108116G>C uc010ysl.1 - 1 137 c.48C>G c.(46-48)CCC>CCG p.P16P C2orf89_uc002sou.3_Silent_p.P16P|C2orf89_uc010fgc.1_Silent_p.P16P NM_001080824 NP_001074293 Q86V40 CB089_HUMAN hypothetical protein LOC129293 precursor 16 integral to membrane ovary(1) 1 CTGCGCCCGTGGGCAGGAGGC 0.711 NaN 0 0 0 0.004482 0 7 3 ELMOD3 84173 broad.mit.edu 37 2 85616934 85616934 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:85616934G>A uc002spf.3 + 13 1464 c.799G>A c.(799-801)GAG>AAG p.E267K ELMOD3_uc002spg.3_Missense_Mutation_p.E267K|ELMOD3_uc002sph.3_Missense_Mutation_p.E267K|ELMOD3_uc010ysn.1_Missense_Mutation_p.E267K|ELMOD3_uc010yso.1_RNA|ELMOD3_uc010ysp.1_RNA NM_001135021 NP_001128493 Q96FG2 ELMD3_HUMAN ELMO/CED-12 domain containing 3 isoform b 267 ELMO. phagocytosis cytoskeleton ovary(2) 2 GGCCTTGAGAGAGGAGTGTCT 0.542 NaN 0 0 0 0.003755 0 33 40 SH2D6 284948 broad.mit.edu 37 2 85662187 85662187 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:85662187G>A uc002spq.2 + 1 270 c.109G>A c.(109-111)GAA>AAA p.E37K SH2D6_uc002spo.2_Splice_Site|SH2D6_uc002spp.2_Splice_Site NM_198482 NP_940884 Q7Z4S9 SH2D6_HUMAN SH2 domain containing 6 37 central_nervous_system(1) 1 GCTTCTTCTAGAAGGAAGGAA 0.512 NaN 0 0 0 0.006214 0 10 23 POLR1A 25885 broad.mit.edu 37 2 86259451 86259451 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:86259451C>T uc002sqs.2 - 29 4595 c.4216G>A c.(4216-4218)GAG>AAG p.E1406K POLR1A_uc010ytb.1_Missense_Mutation_p.E772K NM_015425 NP_056240 O95602 RPA1_HUMAN DNA-directed RNA polymerase I A 1406 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding ovary(2)|skin(1) 3 TCCCCCTCCTCAGCTTCAGCA 0.567 NaN 0 0 0 0.00623 0 40 54 PTCD3 55037 broad.mit.edu 37 2 86333455 86333455 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:86333455G>A uc002sqw.2 + 1 151 c.85G>A c.(85-87)GAA>AAA p.E29K POLR1A_uc002sqs.2_5'Flank|POLR1A_uc002sqv.2_5'Flank|PTCD3_uc010ytc.1_RNA NM_017952 NP_060422 Q96EY7 PTCD3_HUMAN pentatricopeptide repeat domain 3 precursor 29 mitochondrion protein binding ovary(1) 1 GGGTTTGTGTGAACAGGCACG 0.597 NaN 0 0 0 0.014323 0 17 47 KRCC1 51315 broad.mit.edu 37 2 88327938 88327938 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:88327938C>T uc002sso.1 - 4 539 c.145G>A c.(145-147)GAG>AAG p.E49K KRCC1_uc002ssp.1_Missense_Mutation_p.E49K NM_016618 NP_057702 Q9NPI7 KRCC1_HUMAN lysine-rich coiled-coil 1 49 ovary(1) 1 GAATTAACCTCTCCTTTGTAC 0.418 NaN 0 0 0 0.01441 0 52 93 PROM2 150696 broad.mit.edu 37 2 95940393 95940393 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:95940393G>A uc002suh.1 + 1 193 c.60G>A c.(58-60)CTG>CTA p.L20L PROM2_uc002sui.2_Silent_p.L20L|PROM2_uc002suj.2_5'UTR|PROM2_uc002suk.2_Silent_p.L20L|PROM2_uc002sul.2_5'UTR NM_144707 NP_653308 Q8N271 PROM2_HUMAN prominin 2 precursor 20 apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane ovary(1) 1 GGCTGGCCCTGAGTCAGCTGG 0.677 NaN 0 0 0 0.008291 0 10 65 PROM2 150696 broad.mit.edu 37 2 95940456 95940456 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:95940456C>T uc002suh.1 + 1 256 c.123C>T c.(121-123)TTC>TTT p.F41F PROM2_uc002sui.2_Silent_p.F41F|PROM2_uc002suj.2_5'UTR|PROM2_uc002suk.2_Silent_p.F41F|PROM2_uc002sul.2_5'UTR NM_144707 NP_653308 Q8N271 PROM2_HUMAN prominin 2 precursor 41 Extracellular (Potential). apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane ovary(1) 1 ACCTGACATTCACCCCAGCAG 0.697 NaN 0 0 0 0.013114 0 42 147 FAHD2A 51011 broad.mit.edu 37 2 96072879 96072879 + Nonsense_Mutation SNP G G T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:96072879G>T uc002sur.2 + 3 615 c.436G>T c.(436-438)GAG>TAG p.E146* FAHD2A_uc002sus.2_Nonsense_Mutation_p.E146* NM_016044 NP_057128 Q96GK7 FAH2A_HUMAN fumarylacetoacetate hydrolase domain containing 146 hydrolase activity|metal ion binding ovary(1) 1 GCCCTATGATGAGGTGGTCCT 0.562 NaN 1 0 9.05144e-12 0.001855 9.45218e-12 10 124 ARID5A 10865 broad.mit.edu 37 2 97215120 97215120 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:97215120C>T uc002swe.2 + 3 283 c.183C>T c.(181-183)TTC>TTT p.F61F ARID5A_uc010yuq.1_5'UTR|ARID5A_uc002swf.2_Intron|ARID5A_uc002swg.2_Intron NM_212481 NP_997646 Q03989 ARI5A_HUMAN AT rich interactive domain 5A 61 ARID. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding 0 agcaggCCTTCCTGGTCAGCC 0.478 NaN 0 0 0 0.008361 0 28 46 EIF5B 9669 broad.mit.edu 37 2 99976974 99976974 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:99976974C>G uc002tab.2 + 3 392 c.208C>G c.(208-210)CAA>GAA p.Q70E NM_015904 NP_056988 O60841 IF2P_HUMAN eukaryotic translation initiation factor 5B 70 regulation of translational initiation cytosol GTP binding|GTPase activity|protein binding|translation initiation factor activity ovary(2)|pancreas(1) 3 TTTGGAAGCTCAAGGCATCAA 0.348 NaN 0 0 0 0.007413 0 19 44 EIF5B 9669 broad.mit.edu 37 2 99984993 99984993 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:99984993G>A uc002tab.2 + 7 1510 c.1326G>A c.(1324-1326)AAG>AAA p.K442K NM_015904 NP_056988 O60841 IF2P_HUMAN eukaryotic translation initiation factor 5B 442 regulation of translational initiation cytosol GTP binding|GTPase activity|protein binding|translation initiation factor activity ovary(2)|pancreas(1) 3 TGCCAAAGAAGAGGCCAATTT 0.343 NaN 0 0 0 0.003755 0 35 63 TBC1D8 11138 broad.mit.edu 37 2 101648738 101648738 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:101648738C>T uc010fiv.2 - 11 2014 c.1883G>A c.(1882-1884)CGA>CAA p.R628Q TBC1D8_uc002tau.3_Missense_Mutation_p.R385Q NM_001102426 NP_001095896 O95759 TBCD8_HUMAN TBC1 domain family, member 8 628 Rab-GAP TBC. blood circulation|positive regulation of cell proliferation intracellular|membrane calcium ion binding|Rab GTPase activator activity ovary(3) 3 ACCGATCACTCGGTGGTTGAA 0.532 NaN 0 0 0 0.004482 0 9 12 C2orf49 79074 broad.mit.edu 37 2 105959589 105959589 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:105959589C>T uc002tcs.1 + 3 583 c.551C>T c.(550-552)TCA>TTA p.S184L C2orf49_uc010fjd.1_Missense_Mutation_p.S142L NM_024093 NP_076998 Q9BVC5 ASHWN_HUMAN ashwin 184 tRNA-splicing ligase complex 0 AAAAGTCCTTCAGGCCCTGTG 0.443 NaN 0 0 0 0.005524 0 40 73 SLC5A7 60482 broad.mit.edu 37 2 108608600 108608600 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:108608600G>A uc002tdv.2 + 3 493 c.217G>A c.(217-219)GAA>AAA p.E73K SLC5A7_uc010ywm.1_5'UTR|SLC5A7_uc010fjj.2_Missense_Mutation_p.E73K|SLC5A7_uc010ywn.1_5'UTR NM_021815 NP_068587 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (choline transporter), 73 Cytoplasmic (Potential). acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity ovary(2)|central_nervous_system(1)|skin(1) 4 Choline(DB00122) TGGCACAGCTGAAGCAGTTTA 0.423 NaN 0 0 0 0.003755 0 34 53 RANBP2 5903 broad.mit.edu 37 2 109352069 109352069 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:109352069G>C uc002tem.3 + 5 613 c.487G>C c.(487-489)GAT>CAT p.D163H NM_006267 NP_006258 P49792 RBP2_HUMAN RAN binding protein 2 163 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 TGTAAGACCTGATGACGTCCA 0.438 NaN 0 0 0 0.01441 0 102 410 RANBP2 5903 broad.mit.edu 37 2 109383083 109383083 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:109383083G>A uc002tem.3 + 20 6214 c.6088G>A c.(6088-6090)GAA>AAA p.E2030K NM_006267 NP_006258 P49792 RBP2_HUMAN RAN binding protein 2 2030 RanBD1 2. 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 AACAGGAGAAGAAGATGAAAA 0.388 NaN 0 0 0 0.01441 0 134 630 SEPT10 151011 broad.mit.edu 37 2 110332307 110332307 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:110332307C>T uc002tew.2 - 5 830 c.451G>A c.(451-453)GAG>AAG p.E151K SEPT10_uc010ywu.1_Intron|SEPT10_uc002tex.2_Missense_Mutation_p.E128K|SEPT10_uc002tey.2_Missense_Mutation_p.E151K|SEPT10_uc010ywv.1_Missense_Mutation_p.E17K|SEPT10_uc002tev.1_5'UTR|SEPT10_uc010fjo.2_RNA NM_144710 NP_653311 Q9P0V9 SEP10_HUMAN septin 10 isoform 1 151 cell cycle|cell division septin complex GTP binding 0 AGATAGGCCTCAAACTGAGCA 0.378 NaN 0 0 0 0.01441 0 49 67 ANAPC1 64682 broad.mit.edu 37 2 112550062 112550062 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:112550062G>A uc002thi.2 - 38 4836 c.4589C>T c.(4588-4590)TCA>TTA p.S1530L NM_022662 NP_073153 Q9H1A4 APC1_HUMAN anaphase promoting complex subunit 1 1530 PC 4. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|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 skin(2) 2 TAGGTTTCCTGAGCCAGCCAT 0.483 NaN 0 0 0 0.004007 0 12 45 MERTK 10461 broad.mit.edu 37 2 112751899 112751899 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:112751899G>A uc002thk.1 + 9 1490 c.1368G>A c.(1366-1368)ACG>ACA p.T456T MERTK_uc002thl.1_Silent_p.T280T NM_006343 NP_006334 Q12866 MERTK_HUMAN MER receptor tyrosine kinase precursor 456 Fibronectin type-III 2.|Extracellular (Potential). cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity lung(6)|upper_aerodigestive_tract(1)|stomach(1)|kidney(1) 9 ACAATGCTACGTGCACAGTGA 0.522 NaN 0 0 0 0.01441 0 71 109 FOXD4L1 200350 broad.mit.edu 37 2 114256945 114256945 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:114256945G>A uc002tjw.3 + 1 285 c.112G>A c.(112-114)GAG>AAG p.E38K NM_012184 NP_036316 Q9NU39 FX4L1_HUMAN forkhead box D4-like 1 38 axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding 0 agatgaagacgaggtggaaga 0.532 NaN 0 0 0 0.01441 0 48 63 EN1 2019 broad.mit.edu 37 2 119604241 119604241 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:119604241G>A uc002tlm.2 - 1 1519 c.503C>T c.(502-504)TCG>TTG p.S168L NM_001426 NP_001417 Q05925 HME1_HUMAN engrailed homeobox 1 168 skeletal system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|lung(1) 2 GCACAGGAGCGAGGCAGCGCC 0.602 NaN 0 0 0 0.00308 0 8 4 CNTNAP5 129684 broad.mit.edu 37 2 125504879 125504879 + Silent SNP G G T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:125504879G>T uc002tno.2 + 14 2512 c.2148G>T c.(2146-2148)GGG>GGT p.G716G CNTNAP5_uc010flu.2_Silent_p.G717G NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 716 Extracellular (Potential).|Fibrinogen C-terminal. cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) CCCCTCCTGGGGTCCAGCAGT 0.517 NaN 1 0 6.4771e-29 0.010771 6.86965e-29 44 74 UGGT1 56886 broad.mit.edu 37 2 128867254 128867254 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:128867254C>T uc002tps.2 + 5 633 c.455C>T c.(454-456)TCA>TTA p.S152L UGGT1_uc010fme.1_Missense_Mutation_p.S27L|UGGT1_uc002tpr.2_Missense_Mutation_p.S128L NM_020120 NP_064505 Q9NYU2 UGGG1_HUMAN UDP-glucose ceramide glucosyltransferase-like 1 152 '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 TCGTTTTTTTCAGTGCATGGA 0.378 NaN 0 0 0 0.01441 0 51 77 HS6ST1 9394 broad.mit.edu 37 2 129026352 129026352 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:129026352G>A uc002tpt.3 - 2 654 c.620C>T c.(619-621)TCG>TTG p.S207L NM_004807 NP_004798 O60243 H6ST1_HUMAN heparan sulfate 6-O-sulfotransferase 1 207 Lumenal (Potential). heparan sulfate proteoglycan biosynthetic process, enzymatic modification integral to plasma membrane sulfotransferase activity pancreas(1) 1 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.117) CATATGCAACGACGTCTTCCA 0.632 NaN 0 0 0 0.010729 0 12 58 RAB3GAP1 22930 broad.mit.edu 37 2 135888197 135888197 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:135888197C>T uc002tuj.2 + 13 1167 c.1142C>T c.(1141-1143)TCA>TTA p.S381L RAB3GAP1_uc010fnf.2_Missense_Mutation_p.S381L|RAB3GAP1_uc010fng.2_Missense_Mutation_p.S206L|RAB3GAP1_uc010fnh.1_RNA NM_012233 NP_036365 Q15042 RB3GP_HUMAN RAB3 GTPase-activating protein 381 centrosome|nucleus|soluble fraction Rab GTPase activator activity|Rab GTPase binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(221;0.117) TTATCAGTTTCAAATATGGTA 0.338 NaN 0 0 0 0.004007 0 16 51 DARS 1615 broad.mit.edu 37 2 136743012 136743012 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:136743012C>T uc002tux.1 - 1 211 c.27G>A c.(25-27)AAG>AAA p.K9K DARS_uc010fnj.1_5'UTR NM_001349 NP_001340 P14868 SYDC_HUMAN aspartyl-tRNA synthetase 9 aspartyl-tRNA aminoacylation|protein complex assembly cytosol|nuclear membrane|plasma membrane|soluble fraction aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.168) L-Aspartic Acid(DB00128) TCTCCTGACTCTTGCGGCTGG 0.687 NaN 0 0 0 0.013537 0 5 1 LRP1B 53353 broad.mit.edu 37 2 141359032 141359032 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:141359032C>T uc002tvj.1 - 42 7948 c.6976G>A c.(6976-6978)GAT>AAT p.D2326N NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 2326 Extracellular (Potential).|LDL-receptor class B 24. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TGACATTCATCCAAGGCTAGC 0.378 NaN TSP Lung(27;0.18) 0 0 0 0.005524 0 38 10 MBD5 55777 broad.mit.edu 37 2 149226996 149226996 + Nonsense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:149226996C>G uc002twm.3 + 9 2472 c.1484C>G c.(1483-1485)TCA>TGA p.S495* MBD5_uc010zbs.1_RNA|MBD5_uc010fns.2_Nonsense_Mutation_p.S495*|MBD5_uc002twn.1_5'Flank NM_018328 NP_060798 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 495 chromosome|nucleus chromatin binding|DNA binding skin(3)|ovary(2) 5 BRCA - Breast invasive adenocarcinoma(221;0.0569) TCACCAAGGTCAACAATAGGG 0.478 NaN 0 0 0 0.00499 0 18 36 STAM2 10254 broad.mit.edu 37 2 153000393 153000393 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:153000393C>G uc002tyc.3 - 7 1002 c.652G>C c.(652-654)GAC>CAC p.D218H STAM2_uc010foa.1_Missense_Mutation_p.D218H|STAM2_uc002tyd.2_Missense_Mutation_p.D218H NM_005843 NP_005834 O75886 STAM2_HUMAN signal transducing adaptor molecule 2 218 SH3. cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway cytosol|early endosome membrane protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.22) AGTTCATTGTCCTCAACAGCT 0.318 NaN 0 0 0 0.008871 0 19 37 LRP2 4036 broad.mit.edu 37 2 170148823 170148823 + Nonsense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:170148823G>A uc002ues.2 - 7 922 c.709C>T c.(709-711)CAA>TAA p.Q237* LRP2_uc010zdf.1_Nonsense_Mutation_p.Q237* NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 237 LDL-receptor class A 6.|Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) ACCCAGTTTTGATAAATGCAT 0.453 NaN 0 0 0 0.00499 0 18 49 TLK1 9874 broad.mit.edu 37 2 171913057 171913057 + Nonsense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:171913057G>C uc002ugn.2 - 6 945 c.473C>G c.(472-474)TCA>TGA p.S158* TLK1_uc002ugo.2_Nonsense_Mutation_p.S179*|TLK1_uc002ugp.2_Nonsense_Mutation_p.S110*|TLK1_uc002ugq.2_RNA|TLK1_uc010zdn.1_Nonsense_Mutation_p.S62*|TLK1_uc002ugr.1_5'Flank NM_012290 NP_036422 Q9UKI8 TLK1_HUMAN tousled-like kinase 1 isoform 1 158 cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus nucleus ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(1) 1 TACTGGACTTGAGCCATTTCC 0.373 NaN 0 0 0 0.00632 0 25 54 MAP1D 254042 broad.mit.edu 37 2 172928454 172928454 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:172928454G>C uc002uhk.2 + 3 287 c.214G>C c.(214-216)GAC>CAC p.D72H MAP1D_uc010zdw.1_5'UTR NM_199227 NP_954697 Q6UB28 AMP1D_HUMAN methionine aminopeptidase 1D precursor 72 N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis mitochondrion aminopeptidase activity|metal ion binding|metalloexopeptidase activity 0 OV - Ovarian serous cystadenocarcinoma(117;0.216) AAAGAAGCCAGACTATGTGAC 0.468 NaN 0 0 0 0.009096 0 3 24 TTN 7273 broad.mit.edu 37 2 179604684 179604684 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:179604684C>T uc010zfh.1 - 46 12987 c.12763G>A c.(12763-12765)GAG>AAG p.E4255K TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.E4188K|TTN_uc010zfj.1_Missense_Mutation_p.E4063K|TTN_uc002umz.1_Intron NM_133437 NP_597681 Q8WZ42 TITIN_HUMAN titin isoform novex-2 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCCTCGACCTCCACCTTTTCA 0.458 NaN 0 0 0 0.008361 0 31 67 TTN 7273 broad.mit.edu 37 2 179606140 179606140 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:179606140G>C uc010zfh.1 - 46 11531 c.11307C>G c.(11305-11307)TTC>TTG p.F3769L TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.F3702L|TTN_uc010zfj.1_Missense_Mutation_p.F3577L|TTN_uc002umz.1_Intron NM_133437 NP_597681 Q8WZ42 TITIN_HUMAN titin isoform novex-2 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACTCCTTAAGGAAGTGAGGAG 0.458 NaN 0 0 0 0.01441 0 61 126 TTN 7273 broad.mit.edu 37 2 179641337 179641337 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:179641337G>A uc010zfg.1 - 28 5478 c.5254C>T c.(5254-5256)CGT>TGT p.R1752C TTN_uc010zfh.1_Missense_Mutation_p.R1706C|TTN_uc010zfi.1_Missense_Mutation_p.R1706C|TTN_uc010zfj.1_Missense_Mutation_p.R1706C|TTN_uc002unb.2_Missense_Mutation_p.R1752C|uc002unc.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 1752 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) TTGATCATACGGAGCCTGTTG 0.483 NaN 0 0 0 0.00278 0 25 41 SSFA2 6744 broad.mit.edu 37 2 182766801 182766801 + Nonsense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:182766801C>T uc002uoi.2 + 8 1343 c.1021C>T c.(1021-1023)CAA>TAA p.Q341* SSFA2_uc002uoh.2_Nonsense_Mutation_p.Q341*|SSFA2_uc002uoj.2_Nonsense_Mutation_p.Q341*|SSFA2_uc002uok.2_RNA|SSFA2_uc010zfo.1_Nonsense_Mutation_p.Q188*|SSFA2_uc002uol.2_Nonsense_Mutation_p.Q188* NM_001130445 NP_001123917 P28290 SSFA2_HUMAN sperm specific antigen 2 isoform 1 341 cytoplasm|plasma membrane actin binding breast(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0856) TAAAAACGATCAAAAGTCTCA 0.358 NaN 0 0 0 0.003163 0 14 43 OSGEPL1 64172 broad.mit.edu 37 2 190619038 190619038 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:190619038C>T uc002uqz.1 - 4 1177 c.643G>A c.(643-645)GAG>AAG p.E215K OSGEPL1_uc002ura.1_RNA NM_022353 NP_071748 Q9H4B0 OSGP2_HUMAN O-sialoglycoprotein endopeptidase-like 1 215 proteolysis|tRNA processing metalloendopeptidase activity 0 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0293)|all cancers(119;0.0831) GTGGAGCACTCTGGATGTTTT 0.348 NaN 0 0 0 0.00308 0 8 27 GLS 2744 broad.mit.edu 37 2 191792056 191792056 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:191792056G>A uc002usf.2 + 12 1537 c.1273G>A c.(1273-1275)GAA>AAA p.E425K GLS_uc002use.2_Missense_Mutation_p.E425K|GLS_uc002usg.1_Missense_Mutation_p.E86K|GLS_uc002ush.2_Missense_Mutation_p.E86K|GLS_uc010zgi.1_5'UTR|GLS_uc010zgj.1_5'Flank NM_014905 NP_055720 O94925 GLSK_HUMAN glutaminase precursor 425 cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion mitochondrial matrix glutaminase activity ovary(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181) L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) AGTGACTTGTGAATCAGCCAG 0.383 NaN 0 0 0 0.00499 0 13 28 PLCL1 5334 broad.mit.edu 37 2 198950660 198950660 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:198950660G>A uc010fsp.2 + 2 2710 c.2419G>A c.(2419-2421)GAG>AAG p.E807K PLCL1_uc002uuv.3_Missense_Mutation_p.E728K NM_001114661 NP_001108133 Q15111 PLCL1_HUMAN RecName: Full=Inactive phospholipase C-like protein 1; Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein; Short=PRIP; 807 C2. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|skin(1) 2 Quinacrine(DB01103) CATTGGGGATGAGTTTATAGG 0.423 NaN 0 0 0 0.003755 0 38 75 SPATS2L 26010 broad.mit.edu 37 2 201342726 201342726 + Nonsense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:201342726C>G uc002uvn.3 + 13 2001 c.1649C>G c.(1648-1650)TCA>TGA p.S550* SPATS2L_uc010fst.2_Nonsense_Mutation_p.S550*|SPATS2L_uc002uvo.3_Nonsense_Mutation_p.S490*|SPATS2L_uc002uvp.3_Nonsense_Mutation_p.S550*|SPATS2L_uc002uvq.3_Nonsense_Mutation_p.S481*|SPATS2L_uc002uvr.3_Nonsense_Mutation_p.S550*|SPATS2L_uc010zhc.1_Nonsense_Mutation_p.S580* NM_015535 NP_056350 Q9NUQ6 SPS2L_HUMAN SPATS2-like protein isoform a 550 cytoplasm|nucleolus ovary(2)|pancreas(1) 3 GCAGTTCTCTCAGTCCCGGCT 0.562 NaN 0 0 0 0.008291 0 11 15 ALS2CR4 65062 broad.mit.edu 37 2 202494121 202494121 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:202494121C>G uc002uyh.1 - 10 802 c.701G>C c.(700-702)GGA>GCA p.G234A ALS2CR4_uc002uyg.1_Missense_Mutation_p.G226A|ALS2CR4_uc010zho.1_Missense_Mutation_p.G29A|ALS2CR4_uc010zhp.1_RNA NM_001044385 NP_001037850 Q96Q45 TM237_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 258 Helical; (Potential). integral to membrane protein binding 0 AGCCAAGAATCCATGAGAAAA 0.358 NaN 0 0 0 0.001168 0 6 4 NBEAL1 65065 broad.mit.edu 37 2 204055050 204055050 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:204055050G>C uc002uzt.3 + 45 7105 c.6772G>C c.(6772-6774)GAA>CAA p.E2258Q NBEAL1_uc002uzs.3_Missense_Mutation_p.E968Q NM_001114132 NP_001107604 Q6ZS30 NBEL1_HUMAN neurobeachin-like 1 isoform 3 2258 BEACH. binding ovary(1)|skin(1) 2 AGATGAGAAAGAAAGAAAAGC 0.353 NaN 0 0 0 0.003755 0 34 83 PLEKHM3 389072 broad.mit.edu 37 2 208725884 208725884 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:208725884C>T uc002vcl.2 - 7 2543 c.2053G>A c.(2053-2055)GAA>AAA p.E685K NM_001080475 NP_001073944 Q6ZWE6 PKHM3_HUMAN pleckstrin homology domain containing, family M, 685 Phorbol-ester/DAG-type. intracellular signal transduction metal ion binding ovary(1) 1 TTACAGATTTCACAGATGAAC 0.408 NaN 0 0 0 0.01441 0 88 41 PIKFYVE 200576 broad.mit.edu 37 2 209190606 209190606 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:209190606G>A uc002vcz.2 + 20 3229 c.3071G>A c.(3070-3072)GGA>GAA p.G1024E PIKFYVE_uc010fun.1_Missense_Mutation_p.G705E|PIKFYVE_uc002vcy.1_Missense_Mutation_p.G968E NM_015040 NP_055855 Q9Y2I7 FYV1_HUMAN phosphatidylinositol-3-phosphate 5-kinase type 1024 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 GATGACACTGGATTATATGTT 0.443 NaN 0 0 0 0.01441 0 50 15 PIKFYVE 200576 broad.mit.edu 37 2 209190762 209190762 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:209190762C>G uc002vcz.2 + 20 3385 c.3227C>G c.(3226-3228)TCT>TGT p.S1076C PIKFYVE_uc010fun.1_Missense_Mutation_p.S757C|PIKFYVE_uc002vcy.1_Missense_Mutation_p.S1020C NM_015040 NP_055855 Q9Y2I7 FYV1_HUMAN phosphatidylinositol-3-phosphate 5-kinase type 1076 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 ATGAGATGCTCTACCCGAGAT 0.423 NaN 0 0 0 0.00632 0 27 50 SPAG16 79582 broad.mit.edu 37 2 214174842 214174842 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:214174842C>T uc002veq.2 + 4 431 c.339C>T c.(337-339)CTC>CTT p.L113L SPAG16_uc010fuz.1_Intron|SPAG16_uc002ver.2_Silent_p.L59L|SPAG16_uc010zjk.1_Intron|SPAG16_uc002veo.2_Silent_p.L113L|SPAG16_uc002vep.1_Intron|SPAG16_uc002ves.1_Silent_p.L82L NM_024532 NP_078808 Q8N0X2 SPG16_HUMAN sperm associated antigen 16 isoform 1 113 cilium assembly cilium axoneme|flagellar axoneme ovary(1)|skin(1) 2 Renal(323;0.00461) UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599) AAGACTTTCTCTGCAATTTCT 0.318 NaN 0 0 0 0.00632 0 27 57 ABCA12 26154 broad.mit.edu 37 2 215813432 215813432 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:215813432G>A uc002vew.2 - 47 7212 c.6992C>T c.(6991-6993)TCA>TTA p.S2331L ABCA12_uc002vev.2_Missense_Mutation_p.S2013L|ABCA12_uc010zjn.1_Missense_Mutation_p.S1258L NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A, member 12 2331 ABC transporter 2. 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) GCCAACTAATGAGCTGTGAGA 0.418 NaN 0 0 0 0.013726 0 32 63 ABCA12 26154 broad.mit.edu 37 2 215852376 215852376 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:215852376G>A uc002vew.2 - 27 4191 c.3971C>T c.(3970-3972)TCT>TTT p.S1324F ABCA12_uc002vev.2_Missense_Mutation_p.S1006F|ABCA12_uc010zjn.1_Missense_Mutation_p.S251F NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A, member 12 1324 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) CTTACTGGCAGATGGGTTGGT 0.408 NaN 0 0 0 0.005443 0 22 38 ATIC 471 broad.mit.edu 37 2 216200791 216200791 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:216200791G>A uc002vex.3 + 11 1216 c.1042G>A c.(1042-1044)GAA>AAA p.E348K ATIC_uc010zjo.1_Missense_Mutation_p.E289K|ATIC_uc002vey.3_Missense_Mutation_p.E347K NM_004044 NP_004035 P31939 PUR9_HUMAN 5-aminoimidazole-4-carboxamide ribonucleotide 348 IMP biosynthetic process|purine base metabolic process cytosol IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity ATIC/ALK(24) haematopoietic_and_lymphoid_tissue(22)|ovary(2)|lung(2)|soft_tissue(2)|skin(1) 29 Renal(323;0.229) Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097) Tetrahydrofolic acid(DB00116) AGGATATGAAGAAGAAGCCTT 0.308 NaN T ALK ALCL 0 0 0 0.01441 0 64 91 TTLL4 9654 broad.mit.edu 37 2 219602555 219602555 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:219602555C>T uc002viy.2 + 3 526 c.156C>T c.(154-156)ATC>ATT p.I52I TTLL4_uc010zkl.1_Intron|TTLL4_uc010fvx.2_Silent_p.I52I NM_014640 NP_055455 Q14679 TTLL4_HUMAN tubulin tyrosine ligase-like family, member 4 52 protein polyglutamylation cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity ovary(2)|skin(1) 3 Renal(207;0.0915) Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101) TGAAGCCAATCTGGAAGCTGG 0.592 NaN 0 0 0 0.007291 0 30 99 ATG9A 79065 broad.mit.edu 37 2 220085580 220085580 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:220085580G>A uc002vke.1 - 15 2589 c.2403C>T c.(2401-2403)TTC>TTT p.F801F ABCB6_uc002vkc.1_5'Flank|ABCB6_uc010fwe.1_5'Flank|ABCB6_uc010zku.1_5'Flank|ATG9A_uc002vkd.1_RNA|ATG9A_uc002vkf.1_Silent_p.F801F NM_001077198 NP_001070666 Q7Z3C6 ATG9A_HUMAN APG9 autophagy 9-like 1 801 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) GCAGCCGAGAGAAATGAGAGG 0.582 NaN 0 0 0 0.00499 0 15 49 SPEG 10290 broad.mit.edu 37 2 220309694 220309694 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:220309694C>T uc010fwg.2 + 3 626 c.626C>T c.(625-627)CCG>CTG p.P209L SPEG_uc002vlm.2_RNA|SPEG_uc010fwh.1_5'UTR|SPEG_uc002vln.1_5'UTR NM_005876 NP_005867 Q15772 SPEG_HUMAN SPEG complex locus 209 muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity stomach(9)|ovary(4)|central_nervous_system(1) 14 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) CGCCGCCTCCCGGGCAGCCCA 0.716 NaN 0 0 0 0.001168 0 5 12 SLC4A3 6508 broad.mit.edu 37 2 220494009 220494009 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:220494009G>A uc002vmp.3 + 4 630 c.361G>A c.(361-363)GAG>AAG p.E121K SLC4A3_uc002vmn.2_Missense_Mutation_p.E121K|SLC4A3_uc002vmo.3_Missense_Mutation_p.E121K|SLC4A3_uc010fwm.2_5'UTR|SLC4A3_uc010fwn.1_5'Flank NM_005070 NP_005061 P48751 B3A3_HUMAN solute carrier family 4, anion exchanger, member 121 Cytoplasmic. 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) TCCTCCCTCCGAGGGGACCCC 0.547 NaN 0 0 0 0.013537 0 13 18 PAX3 5077 broad.mit.edu 37 2 223096999 223096999 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:223096999G>A uc010fwo.2 - 5 956 c.590C>T c.(589-591)TCA>TTA p.S197L PAX3_uc002vmt.1_Missense_Mutation_p.S197L|PAX3_uc002vmy.1_Missense_Mutation_p.S196L|PAX3_uc002vmv.1_Missense_Mutation_p.S197L|PAX3_uc002vmw.1_Missense_Mutation_p.S197L|PAX3_uc002vmx.1_Missense_Mutation_p.S197L NM_181457 NP_852122 P23760 PAX3_HUMAN paired box 3 isoform PAX3 197 apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4) soft_tissue(761)|ovary(4)|skin(1) 766 Renal(207;0.0183) Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TTGGGGTGCTGAGGCTAAAAG 0.328 NaN T FOXO1A|NCOA1 alveolar rhabdomyosarcoma Waardenburg syndrome; craniofacial-deafness-hand syndrome 0 0 0 0.007413 0 20 118 IRS1 3667 broad.mit.edu 37 2 227662785 227662785 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:227662785C>T uc002voh.3 - 1 722 c.670G>A c.(670-672)GAG>AAG p.E224K NM_005544 NP_005535 P35568 IRS1_HUMAN insulin receptor substrate 1 224 IRS-type PTB. fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity caveola|cytosol|insulin receptor complex|microsome|nucleus insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1) 12 Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23) Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137) CGGCCCACCTCGATGAAGAAG 0.607 NaN OREG0015248 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.007413 0 19 27 UGT1A1 54658 broad.mit.edu 37 2 234669682 234669682 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:234669682C>G uc002vvb.2 + 1 764 c.749C>G c.(748-750)TCT>TGT p.S250C 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_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Intron|UGT1A3_uc002vuy.2_Intron|UGT1A9_uc002vva.2_Intron|UGT1A1_uc010znc.1_Missense_Mutation_p.S250C NM_000463 NP_000454 P22309 UD11_HUMAN UDP glycosyltransferase 1 family, polypeptide A1 250 bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process endoplasmic reticulum membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding central_nervous_system(1)|skin(1) 2 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054) Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197) CTATTGAGCTCTGCATCTGTC 0.468 NaN 0 0 0 0.009535 0 29 66 ANO7 50636 broad.mit.edu 37 2 242135138 242135138 + Nonsense_Mutation SNP G G T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:242135138G>T uc002wax.2 + 4 452 c.349G>T c.(349-351)GAG>TAG p.E117* ANO7_uc002waw.2_Nonsense_Mutation_p.E116* NM_001001891 NP_001001891 Q6IWH7 ANO7_HUMAN transmembrane protein 16G isoform NGEP long 117 Cytoplasmic (Potential). cell junction|chloride channel complex|cytosol chloride channel activity pancreas(2)|central_nervous_system(1) 3 CCTCGTTTGGGAGGAGGACCT 0.617 NaN 1 0 4.36969e-10 0.001855 4.54565e-10 12 8 ANO7 50636 broad.mit.edu 37 2 242162689 242162689 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:242162689G>A uc002wax.2 + 22 2675 c.2572G>A c.(2572-2574)GAG>AAG p.E858K NM_001001891 NP_001001891 Q6IWH7 ANO7_HUMAN transmembrane protein 16G isoform NGEP long 858 Helical; (Potential). cell junction|chloride channel complex|cytosol chloride channel activity pancreas(2)|central_nervous_system(1) 3 CATTGTGTTTGAGGTAGCCGA 0.577 NaN 0 0 0 0.01441 0 47 14 ANO7 50636 broad.mit.edu 37 2 242163167 242163167 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:242163167C>T uc002wax.2 + 23 2768 c.2665C>T c.(2665-2667)CTG>TTG p.L889L NM_001001891 NP_001001891 Q6IWH7 ANO7_HUMAN transmembrane protein 16G isoform NGEP long 889 Cytoplasmic (Potential). cell junction|chloride channel complex|cytosol chloride channel activity pancreas(2)|central_nervous_system(1) 3 GGAGTACTACCTGGCTAAGCA 0.592 NaN 0 0 0 0.001855 0 13 21 RSPO4 343637 broad.mit.edu 37 20 947851 947851 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr20:947851G>A uc002wej.2 - 3 472 c.375C>T c.(373-375)GGC>GGT p.G125G RSPO4_uc002wek.2_Silent_p.G125G NM_001029871 NP_001025042 Q2I0M5 RSPO4_HUMAN R-spondin family, member 4 isoform 1 precursor 125 FU. Wnt receptor signaling pathway extracellular region heparin binding 0 GGGCCAAAGTGCCCGGCGGGC 0.652 NaN 0 0 0 0.008291 0 9 27 SIRPG 55423 broad.mit.edu 37 20 1629746 1629746 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr20:1629746C>T uc002wfm.1 - 2 447 c.382G>A c.(382-384)GAG>AAG p.E128K SIRPG_uc002wfn.1_Missense_Mutation_p.E128K|SIRPG_uc002wfo.1_Missense_Mutation_p.E128K NM_018556 NP_061026 Q9P1W8 SIRPG_HUMAN signal-regulatory protein gamma isoform 1 128 Extracellular (Potential).|Ig-like V-type. blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation integral to membrane|intracellular|plasma membrane protein binding ovary(1) 1 TCCACGTTCTCAGGGCTCCCT 0.488 NaN 0 0 0 0.01441 0 47 164 TGM6 343641 broad.mit.edu 37 20 2413155 2413155 + Nonsense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr20:2413155C>T uc002wfy.1 + 13 2048 c.1987C>T c.(1987-1989)CAG>TAG p.Q663* TGM6_uc010gal.1_Missense_Mutation_p.S618L NM_198994 NP_945345 O95932 TGM3L_HUMAN transglutaminase 6 663 cell death|peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(3)|skin(1) 4 L-Glutamine(DB00130) CCTGGAGCCTCAGGAGAGGGC 0.607 NaN 0 0 0 0.008871 0 18 55 PTPRA 5786 broad.mit.edu 37 20 2945569 2945569 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr20:2945569G>C uc010zqb.1 + 5 529 c.136G>C c.(136-138)GAG>CAG p.E46Q PTPRA_uc002whj.2_Missense_Mutation_p.E46Q|PTPRA_uc010zqc.1_Intron|PTPRA_uc002whk.2_Missense_Mutation_p.E46Q|PTPRA_uc010zqd.1_Missense_Mutation_p.E57Q|PTPRA_uc002whl.2_Missense_Mutation_p.E46Q|PTPRA_uc002whm.2_5'UTR|PTPRA_uc002whn.2_Missense_Mutation_p.E46Q P18433 PTPRA_HUMAN SubName: Full=cDNA FLJ60525, highly similar to Receptor-type tyrosine-protein phosphatase alpha (EC 3.1.3.48); 46 Extracellular (Potential). axon guidance|protein phosphorylation integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity upper_aerodigestive_tract(1) 1 AGTTAAAGAAGAGGCCAAAAC 0.388 NaN 0 0 0 0.009535 0 31 71 PTPRA 5786 broad.mit.edu 37 20 2968991 2968991 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr20:2968991G>A uc010zqd.1 + 8 959 c.642G>A c.(640-642)CAG>CAA p.Q214Q PTPRA_uc002whj.2_Silent_p.Q203Q|PTPRA_uc010zqc.1_Silent_p.Q88Q|PTPRA_uc002whk.2_Silent_p.Q194Q|PTPRA_uc002whl.2_Silent_p.Q194Q|PTPRA_uc002whm.2_5'UTR|PTPRA_uc002whn.2_Silent_p.Q194Q|PTPRA_uc002who.2_5'UTR NM_002836 NP_002827 P18433 PTPRA_HUMAN protein tyrosine phosphatase, receptor type, A 203 Cytoplasmic (Potential). axon guidance|protein phosphorylation integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity p.T214I(1) upper_aerodigestive_tract(1) 1 CAGAGCCCCAGAGTGTGCCAC 0.567 NaN 0 0 0 0.00333 0 22 82 ADAM33 80332 broad.mit.edu 37 20 3655675 3655675 + Missense_Mutation SNP G G A rs146682885 TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr20:3655675G>A uc002wit.2 - 4 419 c.332C>T c.(331-333)ACG>ATG p.T111M ADAM33_uc002wir.1_Missense_Mutation_p.T111M|ADAM33_uc002wis.2_5'Flank|ADAM33_uc002wiu.2_Missense_Mutation_p.T111M|ADAM33_uc002wiw.1_RNA|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron|ADAM33_uc002wix.1_Missense_Mutation_p.T110M|ADAM33_uc010zqg.1_Missense_Mutation_p.T110M|ADAM33_uc010zqh.1_Missense_Mutation_p.T111M NM_025220 NP_079496 Q9BZ11 ADA33_HUMAN ADAM metallopeptidase domain 33 isoform alpha 111 Extracellular (Potential). proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding large_intestine(2)|ovary(1)|skin(1) 4 GCATCTCACCGTGTGGTTGGG 0.622 NaN 0 0 0 0.008291 0 10 17 PANK2 80025 broad.mit.edu 37 20 3891268 3891268 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr20:3891268G>A uc002wkc.2 + 3 1032 c.1026G>A c.(1024-1026)TTG>TTA p.L342L PANK2_uc002wkb.2_Silent_p.L51L|PANK2_uc010gbd.1_RNA|PANK2_uc002wkd.2_RNA|PANK2_uc002wke.2_Silent_p.L51L|PANK2_uc002wkf.2_5'UTR NM_153638 NP_705902 Q9BZ23 PANK2_HUMAN pantothenate kinase 2 isoform 1 preproprotein 342 cell death|coenzyme A biosynthetic process|pantothenate metabolic process mitochondrial intermembrane space|nucleus ATP binding|pantothenate kinase activity|protein binding 0 TAGATTGCTTGATCAAAGGAA 0.353 NaN 0 0 0 0.01441 0 71 116 ADRA1D 146 broad.mit.edu 37 20 4202235 4202235 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr20:4202235C>T uc002wkr.2 - 2 1709 c.1654G>A c.(1654-1656)GAG>AAG p.E552K NM_000678 NP_000669 P25100 ADA1D_HUMAN alpha-1D-adrenergic receptor 552 Cytoplasmic (By similarity). KPPSAFREWRLLGPFRRPTTQLRAKVSSLSHKIRAGGAQRA EAACAQRSEVEAVSLGVPHEVAEGATCQAYELADYSNLRET DI -> SHPAPSASGGCWGRSGDPRPSCAPKSPACRTRSPP GARSAQRQRAPSAQRWRLCP (in Ref. 1). cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation integral to plasma membrane alpha1-adrenergic receptor activity 0 Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162) GTGGCGCCCTCGGCCACCTCG 0.682 NaN 0 0 0 0.001984 0 7 34 GPCPD1 56261 broad.mit.edu 37 20 5556510 5556510 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr20:5556510G>C uc002wme.3 - 9 1033 c.820C>G c.(820-822)CTT>GTT p.L274V GPCPD1_uc002wmd.3_Missense_Mutation_p.L93V NM_019593 NP_062539 Q9NPB8 GPCP1_HUMAN hypothetical protein LOC56261 274 glycerol metabolic process|lipid metabolic process carbohydrate binding|glycerophosphodiester phosphodiesterase activity 0 ATGATGGGAAGAGTAAGAATT 0.438 NaN 0 0 0 0.008361 0 31 130 MCM8 84515 broad.mit.edu 37 20 5935298 5935298 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr20:5935298G>C uc002wmi.2 + 4 675 c.298G>C c.(298-300)GAA>CAA p.E100Q MCM8_uc002wmj.2_Missense_Mutation_p.E100Q|MCM8_uc002wmk.2_Missense_Mutation_p.E100Q|MCM8_uc002wml.2_Missense_Mutation_p.E100Q|MCM8_uc010gbp.2_Missense_Mutation_p.E100Q NM_032485 NP_115874 Q9UJA3 MCM8_HUMAN minichromosome maintenance complex component 8 100 cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent nucleoplasm ATP binding|DNA binding|nucleoside-triphosphatase activity skin(1) 1 TCAAGCATTTGAAAAATTTTT 0.363 NaN 0 0 0 0.00499 0 17 73 JAG1 182 broad.mit.edu 37 20 10625512 10625512 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr20:10625512C>T uc002wnw.2 - 18 2859 c.2343G>A c.(2341-2343)CAG>CAA p.Q781Q JAG1_uc010gcd.1_Silent_p.Q339Q NM_000214 NP_000205 P78504 JAG1_HUMAN jagged 1 precursor 781 Extracellular (Potential). angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation extracellular region|integral to plasma membrane calcium ion binding|growth factor activity|Notch binding|structural molecule activity lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1) 9 GACACTCACTCTGAGCACAGA 0.592 NaN Alagille_Syndrome 0 0 0 0.01441 0 50 96 TASP1 55617 broad.mit.edu 37 20 13550189 13550189 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr20:13550189C>T uc002woi.2 - 7 650 c.533G>A c.(532-534)GGA>GAA p.G178E TASP1_uc010zri.1_Intron|TASP1_uc002woh.2_Missense_Mutation_p.G155E|TASP1_uc010zrj.1_Intron NM_017714 NP_060184 Q9H6P5 TASP1_HUMAN taspase 1 precursor 178 asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation threonine-type endopeptidase activity 0 AGAGGGTATTCCATGATCTAC 0.333 NaN 0 0 0 0.005443 0 21 98 KIF16B 55614 broad.mit.edu 37 20 16362382 16362382 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr20:16362382C>T uc002wpg.1 - 18 1953 c.1795G>A c.(1795-1797)GAG>AAG p.E599K KIF16B_uc002wpe.1_5'Flank|KIF16B_uc002wpf.1_5'Flank|KIF16B_uc010gch.1_Missense_Mutation_p.E599K|KIF16B_uc010gci.1_Missense_Mutation_p.E599K|KIF16B_uc010gcj.1_Missense_Mutation_p.E610K NM_024704 NP_078980 Q96L93 KI16B_HUMAN kinesin-like motor protein C20orf23 599 Glu-rich.|Potential. cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1) 8 TGTTGCCTCTCAAATTCAAGT 0.343 NaN 0 0 0 0.008291 0 10 43 BFSP1 631 broad.mit.edu 37 20 17479526 17479526 + Nonsense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr20:17479526G>A uc002wpo.2 - 6 934 c.895C>T c.(895-897)CAG>TAG p.Q299* BFSP1_uc002wpp.2_Nonsense_Mutation_p.Q174*|BFSP1_uc010zrn.1_Nonsense_Mutation_p.Q160*|BFSP1_uc010zro.1_Nonsense_Mutation_p.Q160* NM_001195 NP_001186 Q12934 BFSP1_HUMAN filensin isoform 1 299 Rod.|Coil 2. cytoplasm|intermediate filament|membrane structural constituent of cytoskeleton|structural constituent of eye lens central_nervous_system(1) 1 AGGGTTTGCTGGGCGACCGCC 0.532 NaN 0 0 0 0.007413 0 19 24 C20orf72 92667 broad.mit.edu 37 20 17950541 17950541 + Silent SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr20:17950541C>G uc002wqh.2 + 2 121 c.39C>G c.(37-39)CTC>CTG p.L13L C20orf72_uc010gco.2_RNA|C20orf72_uc010gcp.2_5'Flank|SNX5_uc002wqc.2_5'Flank|SNX5_uc002wqd.2_5'Flank|SNX5_uc002wqe.2_5'Flank|SNX5_uc010zrt.1_5'Flank|SNX5_uc010gcn.1_5'Flank NM_052865 NP_443097 Q9BQP7 CT072_HUMAN hypothetical protein LOC92667 13 0 GCAGGCAGCTCAGGAGTTCAA 0.408 NaN 0 0 0 0.012319 0 20 83 CSRP2BP 57325 broad.mit.edu 37 20 18162455 18162455 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr20:18162455C>T uc002wqj.2 + 8 2395 c.1773C>T c.(1771-1773)AGC>AGT p.S591S CSRP2BP_uc002wqk.2_Silent_p.S463S|CSRP2BP_uc010zru.1_Silent_p.S462S NM_020536 NP_065397 Q9H8E8 CSR2B_HUMAN CSRP2 binding protein 591 histone H3 acetylation Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm LIM domain binding|N-acetyltransferase activity lung(3)|ovary(2)|skin(1) 6 GTATTGTCAGCCCTTATACCT 0.458 NaN 0 0 0 0.007413 0 20 114 SLC24A3 57419 broad.mit.edu 37 20 19565642 19565642 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr20:19565642G>A uc002wrl.2 + 5 648 c.451G>A c.(451-453)GGG>AGG p.G151R NM_020689 NP_065740 Q9HC58 NCKX3_HUMAN solute carrier family 24 151 Cytoplasmic (Potential).|Alpha-1. integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity ovary(1) 1 AGATGTGGCTGGGGCCACATT 0.552 NaN 0 0 0 0.00333 0 16 54 PAX1 5075 broad.mit.edu 37 20 21687492 21687492 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr20:21687492G>A uc002wsj.2 + 2 757 c.703G>A c.(703-705)GAG>AAG p.E235K PAX1_uc010zsl.1_Missense_Mutation_p.E235K|PAX1_uc010zsm.1_Missense_Mutation_p.E211K NM_006192 NP_006183 P15863 PAX1_HUMAN paired box 1 235 regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter nucleus DNA binding upper_aerodigestive_tract(1)|kidney(1) 2 CGGACCGTACGAGGCAAGTAA 0.647 NaN 0 0 0 0.008291 0 5 9 CST9L 128821 broad.mit.edu 37 20 23549008 23549008 + Missense_Mutation SNP T T C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr20:23549008T>C uc002wtk.3 - 1 379 c.80A>G c.(79-81)TAT>TGT p.Y27C NM_080610 NP_542177 Q9H4G1 CST9L_HUMAN cystatin 9-like precursor 27 extracellular region cysteine-type endopeptidase inhibitor activity 0 Colorectal(13;0.0431)|Lung NSC(19;0.235) ATGCCAGGCATAGATCAGCAG 0.567 NaN 0 0 0 0.00499 0 18 33 CST1 1469 broad.mit.edu 37 20 23728490 23728490 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr20:23728490C>G uc002wtp.2 - 3 460 c.389G>C c.(388-390)AGA>ACA p.R130T NM_001898 NP_001889 P01037 CYTN_HUMAN cystatin SN precursor 130 extracellular region cysteine-type endopeptidase inhibitor activity ovary(1) 1 Lung NSC(19;0.0676)|all_lung(19;0.148) CAGGGACCTTCTGTTCTCCCA 0.542 NaN 0 0 0 0.001855 0 13 41 ACSS1 84532 broad.mit.edu 37 20 24994205 24994205 + Nonsense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr20:24994205G>A uc002wub.2 - 10 2424 c.1546C>T c.(1546-1548)CGA>TGA p.R516* ACSS1_uc002wuc.2_Nonsense_Mutation_p.R514*|ACSS1_uc010gdc.2_Nonsense_Mutation_p.R311*|ACSS1_uc002wud.1_RNA|ACSS1_uc002wua.2_Nonsense_Mutation_p.R433* NM_032501 NP_115890 Q9NUB1 ACS2L_HUMAN acyl-CoA synthetase short-chain family member 1 516 acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process mitochondrial matrix acetate-CoA ligase activity|AMP binding|ATP binding|protein binding ovary(1)|skin(1) 2 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) TCCACAAATCGCTGGTGGTCG 0.592 NaN 0 0 0 0.000602 0 5 15 DEFB123 245936 broad.mit.edu 37 20 30037947 30037947 + Nonsense_Mutation SNP C C A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr20:30037947C>A uc002wvy.2 + 2 265 c.174C>A c.(172-174)TAC>TAA p.Y58* NM_153324 NP_697019 Q8N688 DB123_HUMAN defensin, beta 123 precursor 58 defense response to bacterium extracellular region 0 Lung NSC(7;0.000139)|all_lung(7;0.000197)|all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) AGCCCAAGTACCAGCCAAAAG 0.423 NaN 1 0 5.01169e-05 0.00499 5.11301e-05 15 77 BCL2L1 598 broad.mit.edu 37 20 30309932 30309932 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr20:30309932C>T uc002wwl.2 - 2 456 c.90G>A c.(88-90)GTG>GTA p.V30V BCL2L1_uc002wwk.2_RNA|BCL2L1_uc002wwm.2_Silent_p.V30V|BCL2L1_uc002wwn.2_Silent_p.V30V|BCL2L1_uc002wwo.1_Silent_p.V30V NM_138578 NP_612815 Q07817 B2CL1_HUMAN BCL2-like 1 isoform 1 30 induction of apoptosis by intracellular signals|negative regulation of establishment of protein localization in plasma membrane|negative regulation of survival gene product expression|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|release of cytochrome c from mitochondria|response to cytokine stimulus integral to membrane|mitochondrial outer membrane|nuclear membrane BH3 domain binding|identical protein binding lung(1)|central_nervous_system(1) 2 all_cancers(5;3.47e-06)|all_epithelial(3;1.83e-06)|Lung NSC(7;2.08e-06)|all_lung(7;3.63e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198) Epithelial(4;2.97e-06)|all cancers(5;3.21e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00052)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264) TGTTCTCTTCCACATCACTAA 0.527 NaN 0 0 0 0.01441 0 61 77 FOXS1 2307 broad.mit.edu 37 20 30432733 30432733 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr20:30432733C>T uc002wwt.1 - 1 688 c.613G>A c.(613-615)GAG>AAG p.E205K NM_004118 NP_004109 O43638 FOXS1_HUMAN forkhead box S1 205 anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis transcription factor complex chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding ovary(1) 1 ACGGGGAGCTCCCCTGGGCAT 0.612 NaN 0 0 0 0.009096 0 4 36 XKR7 343702 broad.mit.edu 37 20 30556321 30556321 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr20:30556321G>A uc002wxe.2 + 1 517 c.343G>A c.(343-345)GAC>AAC p.D115N NM_001011718 NP_001011718 Q5GH72 XKR7_HUMAN XK, Kell blood group complex subunit-related 115 integral to membrane ovary(1)|breast(1)|skin(1) 3 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) GTTCGTCTACGACTACTCGGA 0.642 NaN 0 0 0 0.00308 0 8 10 TM9SF4 9777 broad.mit.edu 37 20 30745699 30745699 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr20:30745699G>A uc002wxj.2 + 14 1667 c.1432G>A c.(1432-1434)GAC>AAC p.D478N TM9SF4_uc010zts.1_Missense_Mutation_p.D385N|TM9SF4_uc002wxk.2_Missense_Mutation_p.D461N|TM9SF4_uc010gdz.2_Missense_Mutation_p.D357N NM_014742 NP_055557 Q92544 TM9S4_HUMAN transmembrane 9 superfamily protein member 4 478 integral to membrane central_nervous_system(1)|pancreas(1) 2 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) GCAGCCATATGACAACCCTGT 0.592 NaN 0 0 0 0.01441 0 41 57 CDK5RAP1 51654 broad.mit.edu 37 20 31946862 31946862 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr20:31946862G>C uc010gek.2 - 15 1917 c.1793C>G c.(1792-1794)TCT>TGT p.S598C CDK5RAP1_uc002wyy.2_Missense_Mutation_p.S494C|CDK5RAP1_uc002wyz.2_Missense_Mutation_p.S584C|CDK5RAP1_uc002wza.2_Missense_Mutation_p.S583C|CDK5RAP1_uc010gel.2_Missense_Mutation_p.S493C|CDK5RAP1_uc010gem.2_Missense_Mutation_p.S507C|CDK5RAP1_uc002wzc.1_3'UTR|CDK5RAP1_uc002wzb.1_3'UTR NM_016408 NP_057492 Q96SZ6 CK5P1_HUMAN CDK5 regulatory subunit associated protein 1 598 brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification cytoplasm 4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity ovary(2)|skin(2)|lung(1) 5 GCAATATGCAGAAGAGTCCCT 0.517 NaN 0 0 0 0.00245 0 15 85 SNTA1 6640 broad.mit.edu 37 20 32005554 32005554 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr20:32005554C>T uc002wzd.1 - 3 944 c.672G>A c.(670-672)AAG>AAA p.K224K SNTA1_uc010zuf.1_Silent_p.K224K NM_003098 NP_003089 Q13424 SNTA1_HUMAN acidic alpha 1 syntrophin 224 PH 1. muscle contraction cell junction|cytoplasm|cytoskeleton|sarcolemma actin binding|calmodulin binding skin(1) 1 GGGTGCACCTCTTCGAGACAT 0.607 NaN 0 0 0 0.00333 0 22 47 C20orf144 128864 broad.mit.edu 37 20 32251342 32251342 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr20:32251342G>A uc002wzs.1 + 2 163 c.131G>A c.(130-132)AGG>AAG p.R44K NECAB3_uc002wzl.2_5'Flank|NECAB3_uc002wzm.3_Intron|NECAB3_uc002wzn.3_Intron|NECAB3_uc002wzo.3_Intron|NECAB3_uc002wzp.3_Intron|NECAB3_uc002wzq.3_Intron|NECAB3_uc002wzr.3_Intron|NECAB3_uc010geo.2_Intron|C20orf134_uc002wzt.2_5'Flank NM_080825 NP_543015 Q9BQM9 CT144_HUMAN hypothetical protein LOC128864 44 0 CCCCAGACCAGGATCGTGCTG 0.726 NaN 0 0 0 0.009096 0 3 17 ITCH 83737 broad.mit.edu 37 20 33077105 33077105 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr20:33077105G>A uc010geu.1 + 22 2443 c.2251G>A c.(2251-2253)GAA>AAA p.E751K ITCH_uc002xak.2_Missense_Mutation_p.E710K|ITCH_uc010zuj.1_Missense_Mutation_p.E600K NM_031483 NP_113671 Q96J02 ITCH_HUMAN itchy homolog E3 ubiquitin protein ligase 751 HECT. apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus cytosol|nucleus|plasma membrane CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity breast(4)|lung(1)|central_nervous_system(1) 6 TCGAGGTGTTGAAGAACAGAC 0.348 NaN 0 0 0 0.009535 0 29 92 DYNLRB1 83658 broad.mit.edu 37 20 33114076 33114076 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr20:33114076G>A uc002xal.2 + 2 67 c.7G>A c.(7-9)GAG>AAG p.E3K DYNLRB1_uc010zuk.1_Missense_Mutation_p.E3K|DYNLRB1_uc002xam.2_RNA|DYNLRB1_uc002xan.2_Splice_Site|DYNLRB1_uc002xao.2_RNA NM_014183 NP_054902 Q9NP97 DLRB1_HUMAN Roadblock-1 3 microtubule-based movement|transport|visual behavior centrosome|cytoplasmic dynein complex|microtubule microtubule motor activity 0 CTGGCAGGCAGAGGTGGAGGA 0.547 NaN 0 0 0 0.001168 0 5 33 NCOA6 23054 broad.mit.edu 37 20 33346669 33346669 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr20:33346669C>T uc002xav.2 - 7 3153 c.582G>A c.(580-582)ATG>ATA p.M194I NCOA6_uc002xaw.2_Missense_Mutation_p.M194I|NCOA6_uc010gew.1_Intron NM_014071 NP_054790 Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 194 TBP/GTF2A-binding region.|NCOA1-binding region.|CREBBP-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding ovary(3)|breast(3)|central_nervous_system(1) 7 CTGGTGCCATCATGGAAGATG 0.478 NaN 0 0 0 0.010504 0 20 90 GSS 2937 broad.mit.edu 37 20 33533875 33533875 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr20:33533875G>A uc002xbg.2 - 3 236 c.156C>T c.(154-156)CTC>CTT p.L52L GSS_uc010zun.1_5'UTR|GSS_uc010zuo.1_Silent_p.L52L|GSS_uc010zup.1_Intron|GSS_uc002xbh.2_RNA|GSS_uc010gez.1_5'UTR NM_000178 NP_000169 P48637 GSHB_HUMAN glutathione synthetase 52 nervous system development|response to oxidative stress|xenobiotic metabolic process cytosol ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(18;0.035) Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151) GTGAGGGGAAGAGCGTGAATG 0.567 NaN 0 0 0 0.005443 0 25 133 TRPC4AP 26133 broad.mit.edu 37 20 33591402 33591402 + Silent SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr20:33591402G>C uc002xbk.2 - 18 2101 c.2067C>G c.(2065-2067)CTC>CTG p.L689L TRPC4AP_uc002xbj.2_RNA|TRPC4AP_uc010zuq.1_Silent_p.L280L|TRPC4AP_uc002xbl.2_Silent_p.L681L|TRPC4AP_uc010zur.1_Silent_p.L650L NM_015638 NP_056453 Q8TEL6 TP4AP_HUMAN TRPC4-associated protein isoform a 689 protein ubiquitination|ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex protein binding central_nervous_system(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(18;0.00936) GGCTGGTGTTGAGGCAGCTGA 0.662 NaN 0 0 0 0.001168 0 5 24 EIF6 3692 broad.mit.edu 37 20 33872046 33872046 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr20:33872046G>A uc002xbv.1 - 2 342 c.126C>T c.(124-126)CTC>CTT p.L42L EIF6_uc002xbx.1_Silent_p.L42L|EIF6_uc002xbz.1_Missense_Mutation_p.S82F|EIF6_uc002xby.1_RNA NM_181468 NP_852133 P56537 IF6_HUMAN eukaryotic translation initiation factor 6 42 mature ribosome assembly cytoplasm|nucleolus protein binding|ribosome binding|translation initiation factor activity pancreas(1) 1 BRCA - Breast invasive adenocarcinoma(18;0.00252) TGGTATCGGAGAGCTCGCCCT 0.677 NaN 0 0 0 0.003163 0 14 56 FAM83C 128876 broad.mit.edu 37 20 33879833 33879833 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr20:33879833C>T uc010zux.1 - 1 393 c.275G>A c.(274-276)AGC>AAC p.S92N FAM83C_uc002xcb.1_5'UTR NM_178468 NP_848563 Q9BQN1 FA83C_HUMAN hypothetical protein LOC128876 92 ovary(2) 2 BRCA - Breast invasive adenocarcinoma(18;0.00252) CTGAGCCTCGCTGAGCTCAGG 0.662 NaN 0 0 0 0.006214 0 8 45 CEP250 11190 broad.mit.edu 37 20 34057761 34057761 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr20:34057761G>A uc002xcm.2 + 11 1569 c.898G>A c.(898-900)GAA>AAA p.E300K CEP250_uc010zve.1_5'UTR|CEP250_uc010zvd.1_RNA|CEP250_uc002xco.2_Missense_Mutation_p.E107K NM_007186 NP_009117 Q9BV73 CP250_HUMAN centrosomal protein 2 300 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) GAAGCAAAATGAAGATTATGA 0.488 NaN 0 0 0 0.004878 0 34 57 RBL1 5933 broad.mit.edu 37 20 35627227 35627227 + Nonsense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr20:35627227G>A uc002xgi.2 - 22 3221 c.3142C>T c.(3142-3144)CAA>TAA p.Q1048* RBL1_uc010zvt.1_RNA NM_002895 NP_002886 P28749 RBL1_HUMAN retinoblastoma-like protein 1 isoform a 1048 cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent transcription factor binding lung(5)|skin(3)|ovary(2) 10 Myeloproliferative disorder(115;0.00878) TCATTTTCTTGACAGACGCGT 0.398 NaN 0 0 0 0.01441 0 59 85 FAM83D 81610 broad.mit.edu 37 20 37576568 37576568 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr20:37576568G>A uc002xjg.2 + 3 832 c.791G>A c.(790-792)GGA>GAA p.G264E NM_030919 NP_112181 Q9H4H8 FA83D_HUMAN hypothetical protein LOC81610 234 cell division|mitosis cytoplasm|spindle pole ovary(3) 3 Myeloproliferative disorder(115;0.00878) GCAAGGTCAGGAACTAAGATT 0.438 NaN 0 0 0 0.003755 0 34 125 FAM83D 81610 broad.mit.edu 37 20 37576605 37576605 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr20:37576605G>A uc002xjg.2 + 3 869 c.828G>A c.(826-828)ACG>ACA p.T276T NM_030919 NP_112181 Q9H4H8 FA83D_HUMAN hypothetical protein LOC81610 246 cell division|mitosis cytoplasm|spindle pole ovary(3) 3 Myeloproliferative disorder(115;0.00878) AAAAGTTCACGTTGATTGATG 0.438 NaN 0 0 0 0.006122 0 19 108 EMILIN3 90187 broad.mit.edu 37 20 39990348 39990348 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr20:39990348C>T uc002xjy.1 - 4 2085 c.1861G>A c.(1861-1863)GAG>AAG p.E621K NM_052846 NP_443078 Q9NT22 EMIL3_HUMAN elastin microfibril interfacer 3 621 Potential. proteinaceous extracellular matrix ovary(1) 1 Myeloproliferative disorder(115;0.00425) CGTTCCCGCTCATCCAGGGAC 0.592 NaN 0 0 0 0.008361 0 29 35 TOMM34 10953 broad.mit.edu 37 20 43571786 43571786 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr20:43571786C>T uc002xmy.2 - 7 1034 c.894G>A c.(892-894)CAG>CAA p.Q298Q PABPC1L_uc002xmx.2_Intron|TOMM34_uc002xmz.2_RNA NM_006809 NP_006800 Q15785 TOM34_HUMAN translocase of outer mitochondrial membrane 34 298 protein targeting to mitochondrion integral to membrane|mitochondrial outer membrane heat shock protein binding|signal sequence binding 0 Myeloproliferative disorder(115;0.0122) GCCGCAACTTCTGTGCAGGAC 0.507 NaN 0 0 0 0.003163 0 12 70 STK4 6789 broad.mit.edu 37 20 43623860 43623860 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr20:43623860G>A uc002xnb.2 + 6 745 c.655G>A c.(655-657)GAA>AAA p.E219K STK4_uc010ggx.2_Missense_Mutation_p.E219K|STK4_uc010ggy.2_Missense_Mutation_p.E164K|STK4_uc010ggw.1_Missense_Mutation_p.E219K NM_006282 NP_006273 Q13043 STK4_HUMAN serine/threonine kinase 4 219 Protein kinase. apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation cytoplasm|nucleus ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding ovary(1)|skin(1) 2 Myeloproliferative disorder(115;0.0122) AGAAATGGCTGAAGGAAAGCC 0.443 NaN 0 0 0 0.008871 0 20 73 WFDC13 164237 broad.mit.edu 37 20 44330765 44330765 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr20:44330765G>A uc002xpd.2 + 1 111 c.3G>A c.(1-3)ATG>ATA p.M1I WFDC10B_uc002xpb.2_Intron|WFDC10B_uc002xpc.2_Intron NM_172005 NP_742002 Q8IUB5 WFD13_HUMAN WAP four-disulfide core domain 13 precursor 1 extracellular region peptidase inhibitor activity 0 Myeloproliferative disorder(115;0.0122) CTGACACCATGAAGCCTGTGC 0.567 NaN 0 0 0 0.001168 0 6 15 ZMYND8 23613 broad.mit.edu 37 20 45976605 45976605 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr20:45976605G>A uc002xta.1 - 2 274 c.20C>T c.(19-21)TCC>TTC p.S7F ZMYND8_uc010ghr.1_Missense_Mutation_p.S7F|ZMYND8_uc002xst.1_Missense_Mutation_p.S7F|ZMYND8_uc002xsu.1_Missense_Mutation_p.S7F|ZMYND8_uc002xsv.1_Missense_Mutation_p.S7F|ZMYND8_uc002xsw.1_5'UTR|ZMYND8_uc002xsx.1_5'UTR|ZMYND8_uc002xsy.1_Missense_Mutation_p.S7F|ZMYND8_uc002xsz.1_Missense_Mutation_p.S7F|ZMYND8_uc010zxy.1_Missense_Mutation_p.S34F|ZMYND8_uc002xtb.1_Missense_Mutation_p.S27F|ZMYND8_uc002xss.2_Missense_Mutation_p.S32F|ZMYND8_uc010zxz.1_Missense_Mutation_p.S27F|ZMYND8_uc002xtc.1_Missense_Mutation_p.S27F|ZMYND8_uc002xtd.1_Missense_Mutation_p.S27F|ZMYND8_uc002xte.1_Missense_Mutation_p.S7F|ZMYND8_uc010zya.1_Missense_Mutation_p.S7F|ZMYND8_uc002xtf.1_Missense_Mutation_p.S27F|ZMYND8_uc010ghs.1_Missense_Mutation_p.S26F|ZMYND8_uc002xth.2_Missense_Mutation_p.S27F NM_012408 NP_036540 Q9ULU4 PKCB1_HUMAN zinc finger, MYND-type containing 8 isoform b 7 protein binding|zinc ion binding central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1) 5 Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154) CTCACCTTTGGAGCGAGTAGA 0.393 NaN 0 0 0 0.01441 0 56 97 CSE1L 1434 broad.mit.edu 37 20 47675013 47675013 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr20:47675013G>A uc002xty.2 + 2 147 c.13G>A c.(13-15)GAT>AAT p.D5N CSE1L_uc010zyg.1_5'UTR|CSE1L_uc010ghx.2_Missense_Mutation_p.D5N NM_001316 NP_001307 P55060 XPO2_HUMAN CSE1 chromosome segregation 1-like protein 5 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) GGAACTCAGCGATGCAAATCT 0.333 NaN 0 0 0 0.008871 0 19 101 SLC9A8 23315 broad.mit.edu 37 20 48466215 48466215 + Nonsense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr20:48466215C>T uc002xuv.1 + 6 742 c.532C>T c.(532-534)CAG>TAG p.Q178* SLC9A8_uc010zym.1_5'UTR|SLC9A8_uc010zyj.1_Nonsense_Mutation_p.Q178*|SLC9A8_uc010zyk.1_Nonsense_Mutation_p.Q178*|SLC9A8_uc010zyl.1_Nonsense_Mutation_p.Q150*|SLC9A8_uc010gib.1_Intron NM_015266 NP_056081 Q9Y2E8 SL9A8_HUMAN sodium/hydrogen exchanger 8 178 Golgi membrane|integral to membrane sodium:hydrogen antiporter activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(9;3.91e-07) TTTTCTGGGTCAGGTAAGAAA 0.443 NaN 0 0 0 0.007291 0 29 54 CEBPB 1051 broad.mit.edu 37 20 48808497 48808497 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr20:48808497G>A uc002xvi.1 + 1 1122 c.927G>A c.(925-927)GAG>GAA p.E309E CEBPB_uc002xvh.2_RNA NM_005194 NP_005185 P17676 CEBPB_HUMAN CCAAT/enhancer binding protein beta 309 Leucine-zipper. acute-phase response|immune response sequence-specific enhancer binding RNA polymerase II transcription factor activity 0 BRCA - Breast invasive adenocarcinoma(9;5.72e-08)|STAD - Stomach adenocarcinoma(23;0.19) TCACGGCCGAGAACGAGCGGC 0.662 NaN 0 0 0 0.001984 0 5 7 FAM65C 140876 broad.mit.edu 37 20 49212713 49212713 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr20:49212713C>T uc002xvm.2 - 15 2184 c.1866G>A c.(1864-1866)CTG>CTA p.L622L FAM65C_uc010zyt.1_Silent_p.L626L|FAM65C_uc010zyu.1_RNA NM_080829 NP_543019 Q96MK2 FA65C_HUMAN hypothetical protein LOC140876 622 ovary(2) 2 GGTGTACCATCAGCAGCACGT 0.597 NaN 0 0 0 0.007835 0 41 52 SALL4 57167 broad.mit.edu 37 20 50401020 50401020 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr20:50401020C>T uc002xwh.3 - 4 3047 c.2946G>A c.(2944-2946)GTG>GTA p.V982V SALL4_uc010gii.2_Silent_p.V545V|SALL4_uc002xwi.3_Silent_p.V205V NM_020436 NP_065169 Q9UJQ4 SALL4_HUMAN sal-like 4 982 transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 CATTGGTCTTCACGGCCAGAC 0.547 NaN 0 0 0 0.007835 0 39 71 CYP24A1 1591 broad.mit.edu 37 20 52788164 52788164 + Silent SNP T T C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr20:52788164T>C uc002xwv.2 - 3 893 c.495A>G c.(493-495)AAA>AAG p.K165K CYP24A1_uc002xwu.1_Silent_p.K23K|CYP24A1_uc002xww.2_Silent_p.K165K NM_000782 NP_000773 Q07973 CP24A_HUMAN cytochrome P450 family 24 subfamily A 165 hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process mitochondrial inner membrane 1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme 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 upper_aerodigestive_tract(1)|ovary(1)|lung(1) 3 Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05) STAD - Stomach adenocarcinoma(23;0.206) Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910) GTTTCATTAGTTTCTTTTGAA 0.498 NaN 0 0 0 0.006999 0 40 170 SPO11 23626 broad.mit.edu 37 20 55918412 55918412 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr20:55918412G>A uc002xye.2 + 13 1180 c.1087G>A c.(1087-1089)GAC>AAC p.D363N SPO11_uc002xyf.2_Missense_Mutation_p.D325N NM_012444 NP_036576 Q9Y5K1 SPO11_HUMAN meiotic recombination protein SPO11 isoform a 363 female gamete generation|reciprocal meiotic recombination chromosome|nucleus ATP binding|DNA binding|hydrolase activity breast(2)|skin(1) 3 Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09) AATAATGGCAGACTCTAAAAT 0.323 NaN Editing_and_processing_nucleases 0 0 0 0.01441 0 48 91 VAPB 9217 broad.mit.edu 37 20 56993382 56993382 + Silent SNP C C T rs139149560 byFrequency TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr20:56993382C>T uc002xza.2 + 2 445 c.174C>T c.(172-174)AGC>AGT p.S58S VAPB_uc002xzb.2_RNA|VAPB_uc010zzo.1_5'UTR|VAPB_uc002xzc.2_Silent_p.S58S NM_004738 NP_004729 O95292 VAPB_HUMAN VAMP-associated protein B/C 58 Cytoplasmic (Potential).|MSP. cell death|endoplasmic reticulum unfolded protein response|positive regulation of viral genome replication|sphingolipid metabolic process|virus-host interaction endoplasmic reticulum membrane|Golgi apparatus|integral to membrane beta-tubulin binding|enzyme binding|protein heterodimerization activity|protein homodimerization activity|structural molecule activity kidney(1) 1 Lung NSC(12;0.000615)|all_lung(29;0.00186) BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;3.7e-08)|all cancers(14;3.88e-07) GGCCCAACAGCGGAATCATCG 0.517 NaN 0 0 0 0.008871 0 20 112 CDH4 1002 broad.mit.edu 37 20 60448896 60448896 + Missense_Mutation SNP G G T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr20:60448896G>T uc002ybn.1 + 7 1004 c.990G>T c.(988-990)ATG>ATT p.M330I CDH4_uc002ybp.1_Missense_Mutation_p.M256I NM_001794 NP_001785 P55283 CADH4_HUMAN cadherin 4, type 1 preproprotein 330 Extracellular (Potential).|Cadherin 2. adherens junction organization|cell junction assembly calcium ion binding lung(3)|ovary(2)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) CCCAGAATATGTTCACCATCA 0.642 NaN 1 0 1.64293e-13 0.00333 1.72147e-13 22 85 LAMA5 3911 broad.mit.edu 37 20 60893546 60893546 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr20:60893546G>A uc002ycq.2 - 53 7270 c.7203C>T c.(7201-7203)CTC>CTT p.L2401L NM_005560 NP_005551 O15230 LAMA5_HUMAN laminin alpha 5 precursor 2401 Domain II and I.|Potential. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding ovary(1)|pancreas(1)|skin(1) 3 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGCGGCTGTTGAGCTCCTGGG 0.672 NaN 0 0 0 0.004007 0 11 11 LAMA5 3911 broad.mit.edu 37 20 60908290 60908290 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr20:60908290G>A uc002ycq.2 - 26 3205 c.3138C>T c.(3136-3138)CTC>CTT p.L1046L NM_005560 NP_005551 O15230 LAMA5_HUMAN laminin alpha 5 precursor 1046 Domain IV 1 (domain IV B). angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding ovary(1)|pancreas(1)|skin(1) 3 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGTGTGTGTAGAGGAGGCAGC 0.716 NaN 0 0 0 0.00308 0 8 18 LAMA5 3911 broad.mit.edu 37 20 60910092 60910092 + Missense_Mutation SNP A A G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr20:60910092A>G uc002ycq.2 - 20 2534 c.2467T>C c.(2467-2469)TAT>CAT p.Y823H NM_005560 NP_005551 O15230 LAMA5_HUMAN laminin alpha 5 precursor 823 Laminin EGF-like 10. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding ovary(1)|pancreas(1)|skin(1) 3 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CAGCCAAAATAGTCAGCCTGA 0.652 NaN 0 0 0 0.001984 0 6 17 ARFRP1 10139 broad.mit.edu 37 20 62338434 62338434 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr20:62338434G>C uc002yga.2 - 1 577 c.10C>G c.(10-12)CTG>GTG p.L4V ARFRP1_uc002ygc.2_Missense_Mutation_p.L4V|ARFRP1_uc002ygh.3_Missense_Mutation_p.L4V|ARFRP1_uc011abf.1_Missense_Mutation_p.L4V|ARFRP1_uc011abg.1_Missense_Mutation_p.L4V|ARFRP1_uc002yge.2_RNA|ARFRP1_uc002ygd.2_RNA|ARFRP1_uc002ygf.2_Missense_Mutation_p.L4V|ARFRP1_uc002ygg.2_RNA|ARFRP1_uc011abh.1_RNA|ZGPAT_uc002ygi.2_5'Flank|ZGPAT_uc002ygj.2_5'Flank|ZGPAT_uc002ygk.2_5'Flank|ZGPAT_uc010gkk.1_5'Flank|ZGPAT_uc010gkl.1_5'Flank|ZGPAT_uc002ygm.2_5'Flank|ZGPAT_uc002ygn.3_5'Flank NM_003224 NP_003215 Q13795 ARFRP_HUMAN ADP-ribosylation factor related protein 1 4 small GTPase mediated signal transduction Golgi apparatus|membrane fraction GTP binding|GTPase activity breast(1)|skin(1) 2 all_cancers(38;9.53e-13)|all_epithelial(29;2.64e-14)|Lung NSC(23;7e-10)|all_lung(23;2.53e-09) Epithelial(9;4.09e-08)|all cancers(9;1.7e-07)|OV - Ovarian serous cystadenocarcinoma(5;0.0102) CCCGACAGCAGCGTGTACATC 0.443 NaN 0 0 0 0.001984 0 5 7 ZGPAT 84619 broad.mit.edu 37 20 62340319 62340319 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr20:62340319G>A uc002ygk.2 + 2 565 c.387G>A c.(385-387)CTG>CTA p.L129L ARFRP1_uc002yga.2_5'Flank|ARFRP1_uc002ygc.2_5'Flank|ARFRP1_uc002ygh.3_5'Flank|ARFRP1_uc011abf.1_5'Flank|ARFRP1_uc011abg.1_5'Flank|ARFRP1_uc002yge.2_5'Flank|ARFRP1_uc002ygd.2_5'Flank|ARFRP1_uc002ygf.2_5'Flank|ARFRP1_uc002ygg.2_5'Flank|ARFRP1_uc011abh.1_5'Flank|ZGPAT_uc002ygi.2_Silent_p.L129L|ZGPAT_uc002ygj.2_Silent_p.L129L|ZGPAT_uc010gkk.1_Intron|ZGPAT_uc010gkl.1_Silent_p.L129L|ZGPAT_uc002ygm.2_Silent_p.L129L|ZGPAT_uc002ygn.3_RNA NM_032527 NP_115916 Q8N5A5 ZGPAT_HUMAN zinc finger, CCCH-type with G patch domain 129 negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09) aggaagagCTGAGTGGGACAA 0.537 NaN 0 0 0 0.004007 0 17 45 LIPI 149998 broad.mit.edu 37 21 15561684 15561684 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr21:15561684C>T uc002yjm.2 - 2 176 c.166G>A c.(166-168)GAT>AAT p.D56N LIPI_uc010gkw.1_5'UTR NM_198996 NP_945347 Q6XZB0 LIPI_HUMAN lipase, member I 35 lipid catabolic process extracellular region|extracellular space|membrane|plasma membrane heparin binding|phospholipase activity ovary(2) 2 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166) ATAAATAAATCTCTGAAGGAA 0.353 NaN 0 0 0 0.009718 0 40 153 RBM11 54033 broad.mit.edu 37 21 15599290 15599290 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr21:15599290G>A uc002yjo.3 + 5 564 c.522G>A c.(520-522)CTG>CTA p.L174L RBM11_uc002yjn.3_Silent_p.L60L|RBM11_uc002yjp.3_Silent_p.L60L NM_144770 NP_658983 P57052 RBM11_HUMAN RNA binding motif protein 11 174 nucleotide binding|RNA binding 0 Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141) CTTCCTCACTGAATCATGTTC 0.453 NaN 0 0 0 0.01441 0 69 273 RBM11 54033 broad.mit.edu 37 21 15599416 15599416 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr21:15599416G>A uc002yjo.3 + 5 690 c.648G>A c.(646-648)CTG>CTA p.L216L RBM11_uc002yjn.3_Silent_p.L102L|RBM11_uc002yjp.3_Silent_p.L102L NM_144770 NP_658983 P57052 RBM11_HUMAN RNA binding motif protein 11 216 nucleotide binding|RNA binding 0 Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141) CTTCCTCACTGAATCATGTTC 0.443 NaN 0 0 0 0.004482 0 8 395 NRIP1 8204 broad.mit.edu 37 21 16338443 16338443 + Missense_Mutation SNP G G T rs61755058 byFrequency TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr21:16338443G>T uc002yjx.2 - 4 2669 c.2071C>A c.(2071-2073)CCA>ACA p.P691T NM_003489 NP_003480 P48552 NRIP1_HUMAN nuclear receptor interacting protein 1 691 Repression domain 2. androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity 0 Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24) GGACCTGTTGGTTGACTACTA 0.398 NaN 1 0 3.62473e-10 0.012319 3.77431e-10 22 89 NRIP1 8204 broad.mit.edu 37 21 16339706 16339706 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr21:16339706G>A uc002yjx.2 - 4 1406 c.808C>T c.(808-810)CTG>TTG p.L270L NM_003489 NP_003480 P48552 NRIP1_HUMAN nuclear receptor interacting protein 1 270 LXXLL motif 4.|Repression domain 1. androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity 0 Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24) TCGCTTGACAGAAGTAATGCT 0.463 NaN 0 0 0 0.01441 0 68 122 APP 351 broad.mit.edu 37 21 27326925 27326925 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr21:27326925C>T uc002ylz.2 - 13 1866 c.1666G>A c.(1666-1668)GAG>AAG p.E556K APP_uc011acg.1_Missense_Mutation_p.E64K|APP_uc010glk.2_Missense_Mutation_p.E532K|APP_uc002yma.2_Missense_Mutation_p.E537K|APP_uc011ach.1_Missense_Mutation_p.E500K|APP_uc002ymb.2_Missense_Mutation_p.E481K|APP_uc010glj.2_Missense_Mutation_p.E425K|APP_uc011aci.1_Missense_Mutation_p.E446K NM_000484 NP_000475 P05067 A4_HUMAN amyloid beta A4 protein isoform a precursor 556 Extracellular (Potential). adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity ovary(1) 1 Breast(209;0.00295) TGAATCTCCTCGGCCACTGCA 0.463 NaN 0 0 0 0.010729 0 12 25 APP 351 broad.mit.edu 37 21 27423431 27423431 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr21:27423431C>G uc002ylz.2 - 5 747 c.547G>C c.(547-549)GAG>CAG p.E183Q APP_uc010glk.2_Missense_Mutation_p.E178Q|APP_uc002yma.2_Missense_Mutation_p.E183Q|APP_uc011ach.1_Missense_Mutation_p.E127Q|APP_uc002ymb.2_Missense_Mutation_p.E183Q|APP_uc010glj.2_Missense_Mutation_p.E127Q|APP_uc011aci.1_Missense_Mutation_p.E148Q|APP_uc011acj.1_Missense_Mutation_p.E183Q NM_000484 NP_000475 P05067 A4_HUMAN amyloid beta A4 protein isoform a precursor 183 Extracellular (Potential).|Zinc-binding. adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity ovary(1) 1 Breast(209;0.00295) CACACAAACTCTACCCCTCGG 0.512 NaN 0 0 0 0.001168 0 6 54 GRIK1 2897 broad.mit.edu 37 21 30949385 30949385 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr21:30949385C>G uc002yno.1 - 14 2493 c.2029G>C c.(2029-2031)GAG>CAG p.E677Q GRIK1_uc002ynn.2_Missense_Mutation_p.E662Q|GRIK1_uc011acs.1_Missense_Mutation_p.E677Q|GRIK1_uc011act.1_Missense_Mutation_p.E538Q NM_000830 NP_000821 P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 677 Extracellular (Potential). central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity large_intestine(1)|ovary(1)|skin(1) 3 L-Glutamic Acid(DB00142)|Topiramate(DB00273) TCCATTCTCTCTACTGTCAAG 0.448 NaN 0 0 0 0.00278 0 24 105 DNAJC28 54943 broad.mit.edu 37 21 34860800 34860800 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr21:34860800G>C uc002yrv.2 - 2 1350 c.901C>G c.(901-903)CAA>GAA p.Q301E DNAJC28_uc002yrw.2_Missense_Mutation_p.Q301E NM_017833 NP_060303 Q9NX36 DJC28_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 28 301 Potential. heat shock protein binding 0 ATGTTTTCTTGAAACTGCTCA 0.353 NaN 0 0 0 0.01441 0 103 125 RCAN1 1827 broad.mit.edu 37 21 35895867 35895867 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr21:35895867G>C uc002yue.2 - 2 466 c.394C>G c.(394-396)CTG>GTG p.L132V RCAN1_uc002yuc.2_Missense_Mutation_p.L51V|RCAN1_uc002yud.2_5'UTR|RCAN1_uc002yub.2_Missense_Mutation_p.L77V|RCAN1_uc011adx.1_Missense_Mutation_p.L77V NM_004414 NP_004405 P53805 RCAN1_HUMAN calcipressin 1 isoform a 132 blood circulation|calcium-mediated signaling|central nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity 0 TCCTTTCCCAGAAACTCAGTC 0.453 NaN 0 0 0 0.010818 0 32 53 RCAN1 1827 broad.mit.edu 37 21 35895991 35895991 + Silent SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr21:35895991G>C uc002yue.2 - 2 342 c.270C>G c.(268-270)CTC>CTG p.L90L RCAN1_uc002yuc.2_Silent_p.L9L|RCAN1_uc002yud.2_5'UTR|RCAN1_uc002yub.2_Silent_p.L35L|RCAN1_uc011adx.1_Silent_p.L35L NM_004414 NP_004405 P53805 RCAN1_HUMAN calcipressin 1 isoform a 90 blood circulation|calcium-mediated signaling|central nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity 0 ACGTCCTAAAGAGGGACTCAA 0.378 NaN 0 0 0 0.008361 0 30 59 RUNX1 861 broad.mit.edu 37 21 36252962 36252962 + Missense_Mutation SNP C C G rs74315451 TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr21:36252962C>G uc002yuh.2 - 2 1897 c.319G>C c.(319-321)GCT>CCT p.A107P RUNX1_uc002yui.2_Missense_Mutation_p.A107P|RUNX1_uc010gmu.2_Missense_Mutation_p.A134P|RUNX1_uc010gmv.2_Missense_Mutation_p.A134P|RUNX1_uc002yuj.3_Missense_Mutation_p.A2P|RUNX1_uc002yuk.3_Missense_Mutation_p.A134P|RUNX1_uc002yum.1_Missense_Mutation_p.A2P|RUNX1_uc010gmw.1_Missense_Mutation_p.A134P|RUNX1_uc002yuo.1_Missense_Mutation_p.A107P|RUNX1_uc002yur.1_Missense_Mutation_p.A2P NM_001001890 NP_001001890 Q01196 RUNX1_HUMAN runt-related transcription factor 1 isoform 107 Runt. A->T: Loss of heterodimerization. myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent nucleus|nucleus ATP binding|calcium ion binding|DNA binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding p.R107C(12)|p.R107H(2) haematopoietic_and_lymphoid_tissue(383)|lung(2)|ovary(1)|central_nervous_system(1) 387 TCATTGCCAGCCATCACAGTG 0.488 NaN T RPL22|MDS1|EVI1|CBFA2T3|CBFA2T1|ETV6|LAF4 AML|preB- ALL|T-ALL Platelet_disorder_associated_with_Myeloid_Malignancies 0 0 0 0.007413 0 19 20 DOPEY2 9980 broad.mit.edu 37 21 37642413 37642413 + Nonsense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr21:37642413C>T uc002yvg.2 + 27 5669 c.5590C>T c.(5590-5592)CAG>TAG p.Q1864* DOPEY2_uc011aeb.1_Nonsense_Mutation_p.Q1813* NM_005128 NP_005119 Q9Y3R5 DOP2_HUMAN pad-1-like 1864 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane ovary(1)|central_nervous_system(1) 2 GGCCCAACCTCAGGCCTCTCT 0.527 NaN 0 0 0 0.01441 0 61 62 ETS2 2114 broad.mit.edu 37 21 40191551 40191551 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr21:40191551G>A uc002yxg.2 + 8 1132 c.936G>A c.(934-936)GAG>GAA p.E312E ETS2_uc002yxf.2_Silent_p.E452E NM_005239 NP_005230 P15036 ETS2_HUMAN v-ets erythroblastosis virus E26 oncogene 312 positive regulation of transcription, DNA-dependent|skeletal system development nucleus protein binding|sequence-specific DNA binding transcription factor activity ovary(1)|lung(1)|breast(1)|pancreas(1) 4 Prostate(19;6.33e-08)|all_epithelial(19;0.123) CTTCCTTCGAGAGCTTCGAAG 0.547 NaN 0 0 0 0.001984 0 7 20 MX2 4600 broad.mit.edu 37 21 42778893 42778893 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr21:42778893G>A uc002yzf.1 + 13 1977 c.1873G>A c.(1873-1875)GAA>AAA p.E625K MX2_uc002yzg.1_Missense_Mutation_p.E348K|MX2_uc010gop.1_Missense_Mutation_p.E107K NM_002463 NP_002454 P20592 MX2_HUMAN myxovirus resistance protein 2 625 GED. response to virus|type I interferon-mediated signaling pathway cytoplasm|nucleus GTP binding|GTPase activity ovary(2) 2 Prostate(19;1.57e-07)|all_epithelial(19;0.0222) CTCCTTTACTGAAATAGGCAT 0.488 NaN 0 0 0 0.010771 0 41 41 MX1 4599 broad.mit.edu 37 21 42821118 42821118 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr21:42821118G>A uc002yzh.2 + 16 2275 c.1328G>A c.(1327-1329)AGA>AAA p.R443K MX1_uc002yzi.2_Missense_Mutation_p.R443K|MX1_uc010goq.2_Missense_Mutation_p.R443K NM_001144925 NP_001138397 P20591 MX1_HUMAN myxovirus resistance protein 1 443 induction of apoptosis|response to virus|type I interferon-mediated signaling pathway cytosol GTP binding|GTPase activity|protein binding ovary(1) 1 Prostate(19;3.18e-07)|all_epithelial(19;0.0277) TATCGTGGTAGAGAGCTGCCA 0.383 NaN 0 0 0 0.012319 0 20 81 UBASH3A 53347 broad.mit.edu 37 21 43867289 43867289 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr21:43867289G>C uc002zbe.2 + 15 2007 c.1971G>C c.(1969-1971)TGG>TGC p.W657C UBASH3A_uc002zbf.2_Missense_Mutation_p.W619C|UBASH3A_uc010gpc.2_RNA|UBASH3A_uc010gpd.2_RNA|UBASH3A_uc010gpe.2_3'UTR NM_018961 NP_061834 P57075 UBS3A_HUMAN ubiquitin associated and SH3 domain containing, 657 Phosphatase-like. cytosol|nucleus ovary(3) 3 GGAGGAACTGGATCTCAGGCA 0.527 NaN 0 0 0 0.004289 0 38 107 UBASH3A 53347 broad.mit.edu 37 21 43867303 43867303 + Nonstop_Mutation SNP G G T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr21:43867303G>T uc002zbe.2 + 15 2021 c.1985G>T c.(1984-1986)TGA>TTA p.*662L UBASH3A_uc002zbf.2_Nonstop_Mutation_p.*624L|UBASH3A_uc010gpc.2_RNA|UBASH3A_uc010gpd.2_RNA|UBASH3A_uc010gpe.2_3'UTR NM_018961 NP_061834 P57075 UBS3A_HUMAN ubiquitin associated and SH3 domain containing, 662 cytosol|nucleus ovary(3) 3 TCAGGCAACTGAGAGCCACGG 0.542 NaN 1 0 6.00712e-18 0.012213 6.34329e-18 34 98 TRAPPC10 7109 broad.mit.edu 37 21 45503018 45503018 + Silent SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr21:45503018G>C uc002zea.2 + 14 2242 c.2073G>C c.(2071-2073)ACG>ACC p.T691T TRAPPC10_uc010gpo.2_Silent_p.T402T|TRAPPC10_uc011afa.1_Silent_p.T110T NM_003274 NP_003265 P48553 TPC10_HUMAN trafficking protein particle complex 10 691 vesicle-mediated transport Golgi apparatus|integral to membrane binding|sodium ion transmembrane transporter activity ovary(1)|skin(1) 2 CCTTGAACACGACTGGGATTA 0.547 NaN 0 0 0 0.00333 0 26 72 TRAPPC10 7109 broad.mit.edu 37 21 45503079 45503079 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr21:45503079C>T uc002zea.2 + 14 2303 c.2134C>T c.(2134-2136)CTA>TTA p.L712L TRAPPC10_uc010gpo.2_Silent_p.L423L|TRAPPC10_uc011afa.1_Silent_p.L131L NM_003274 NP_003265 P48553 TPC10_HUMAN trafficking protein particle complex 10 712 vesicle-mediated transport Golgi apparatus|integral to membrane binding|sodium ion transmembrane transporter activity ovary(1)|skin(1) 2 CAGCTCCTCTCTAGAGATGCC 0.557 NaN 0 0 0 0.01441 0 72 80 TRAPPC10 7109 broad.mit.edu 37 21 45503092 45503092 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr21:45503092C>T uc002zea.2 + 14 2316 c.2147C>T c.(2146-2148)TCA>TTA p.S716L TRAPPC10_uc010gpo.2_Missense_Mutation_p.S427L|TRAPPC10_uc011afa.1_Missense_Mutation_p.S135L NM_003274 NP_003265 P48553 TPC10_HUMAN trafficking protein particle complex 10 716 vesicle-mediated transport Golgi apparatus|integral to membrane binding|sodium ion transmembrane transporter activity ovary(1)|skin(1) 2 GAGATGCCCTCAGGGGTGGCT 0.567 NaN 0 0 0 0.01441 0 79 91 TRPM2 7226 broad.mit.edu 37 21 45789113 45789113 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr21:45789113G>A uc002zet.1 + 6 871 c.658G>A c.(658-660)GAG>AAG p.E220K TRPM2_uc002zeu.1_Missense_Mutation_p.E220K|TRPM2_uc002zew.1_Missense_Mutation_p.E220K|TRPM2_uc010gpt.1_Missense_Mutation_p.E220K|TRPM2_uc002zex.1_Missense_Mutation_p.E6K NM_003307 NP_003298 O94759 TRPM2_HUMAN transient receptor potential cation channel, 220 Cytoplasmic (Potential). integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 GCAGGTAGGCGAGGCGGTGCG 0.682 NaN 0 0 0 0.001168 0 5 9 CCT8L2 150160 broad.mit.edu 37 22 17072537 17072537 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr22:17072537C>T uc002zlp.1 - 1 1164 c.904G>A c.(904-906)GAG>AAG p.E302K NM_014406 NP_055221 Q96SF2 TCPQM_HUMAN T-complex protein 1 302 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity ovary(1) 1 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) GTGAGGGTCTCCTCGTCGACC 0.493 NaN 0 0 0 0.007835 0 36 88 PEX26 55670 broad.mit.edu 37 22 18566437 18566437 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr22:18566437G>A uc002znp.3 + 4 815 c.606G>A c.(604-606)GCG>GCA p.A202A TUBA8_uc002znr.2_Intron|PEX26_uc002znq.3_Silent_p.A202A|PEX26_uc002znt.2_Silent_p.A202A NM_017929 NP_060399 Q7Z412 PEX26_HUMAN peroxisome biogenesis factor 26 202 Cytoplasmic (Potential). protein import into peroxisome matrix|protein import into peroxisome membrane integral to peroxisomal membrane protein C-terminus binding|protein complex binding skin(1) 1 TTCACACAGCGAGGCAGCAGC 0.572 NaN 0 0 0 0.006122 0 15 24 HIRA 7290 broad.mit.edu 37 22 19418988 19418988 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr22:19418988C>T uc002zpf.1 - 1 232 c.12G>A c.(10-12)CTG>CTA p.L4L HIRA_uc011agx.1_5'UTR|HIRA_uc010grn.1_Silent_p.L4L|HIRA_uc010gro.1_Intron|HIRA_uc010grp.2_Intron|MRPL40_uc002zpg.2_5'Flank|MRPL40_uc002zph.2_5'Flank NM_003325 NP_003316 P54198 HIRA_HUMAN HIR histone cell cycle regulation defective 4 chromatin modification|regulation of transcription from RNA polymerase II promoter PML body chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(1) 1 Colorectal(54;0.0993) AGGTCGGCTTCAGGAGCTTCA 0.557 NaN 0 0 0 0.00308 0 7 12 SERPIND1 3053 broad.mit.edu 37 22 21141329 21141329 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr22:21141329G>A uc002ztb.1 + 5 1542 c.1475G>A c.(1474-1476)AGA>AAA p.R492K PI4KA_uc002zsz.3_Intron|SERPIND1_uc002ztc.2_Missense_Mutation_p.R520K NM_000185 NP_000176 P05546 HEP2_HUMAN heparin cofactor II precursor 492 blood coagulation|chemotaxis|regulation of proteolysis extracellular region heparin binding|serine-type endopeptidase inhibitor activity 0 all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) Ardeparin(DB00407) TTCATGGGAAGAGTGGCCAAC 0.562 NaN 0 0 0 0.004482 0 7 37 SMARCB1 6598 broad.mit.edu 37 22 24159103 24159103 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr22:24159103G>A uc002zyb.2 + 6 982 c.775G>A c.(775-777)GAC>AAC p.D259N SMARCB1_uc002zya.2_Intron|SMARCB1_uc002zyc.2_Missense_Mutation_p.D250N|SMARCB1_uc002zyd.2_Missense_Mutation_p.D268N NM_003073 NP_003064 Q12824 SNF5_HUMAN SWI/SNF related, matrix associated, actin 259 2.|2 X approximate tandem repeats. cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex p53 binding p.?(3)|p.D259fs*26(1)|p.E210fs*15(1) soft_tissue(193)|central_nervous_system(172)|haematopoietic_and_lymphoid_tissue(23)|meninges(5)|skin(5)|bone(4)|ovary(2)|endometrium(1)|lung(1)|pancreas(1) 407 Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05) GGACCAGTCAGACCAGCGCGT 0.582 NaN D|N|F|S malignant rhabdoid malignant rhabdoid Rhabdoid_Predisposition_syndrome|Schwannomatosis 0 0 0 0.013537 0 11 40 UPB1 51733 broad.mit.edu 37 22 24917979 24917979 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr22:24917979C>T uc003aaf.2 + 8 1020 c.899C>T c.(898-900)TCG>TTG p.S300L UPB1_uc003aae.2_Missense_Mutation_p.S232L|UPB1_uc011ajt.1_Missense_Mutation_p.S300L NM_016327 NP_057411 Q9UBR1 BUP1_HUMAN beta-ureidopropionase 300 CN hydrolase. pyrimidine base metabolic process|pyrimidine nucleoside catabolic process cytosol beta-ureidopropionase activity|metal ion binding ovary(2) 2 Colorectal(2;0.0339) GAGTTTACCTCGGGAGATGGA 0.522 NaN OREG0026411 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.00308 0 7 21 LRP5L 91355 broad.mit.edu 37 22 25747768 25747768 + Nonstop_Mutation SNP A A T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr22:25747768A>T uc003abs.2 - 4 3222 c.757T>A c.(757-759)TGA>AGA p.*253R LRP5L_uc011ajz.1_Nonstop_Mutation_p.*253R|LRP5L_uc010guw.1_Silent_p.A223A NM_182492 NP_872298 A4QPB2 LRP5L_HUMAN low density lipoprotein receptor-related protein 253 0 CATGTCACTCAGCAGTTCCAG 0.577 NaN 0 0 0 0.008871 0 18 49 NEFH 4744 broad.mit.edu 37 22 29886470 29886470 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr22:29886470G>C uc003afo.2 + 4 2912 c.2841G>C c.(2839-2841)AAG>AAC p.K947N NEFH_uc003afp.2_Missense_Mutation_p.R13T NM_021076 NP_066554 P12036 NFH_HUMAN neurofilament, heavy polypeptide 200kDa 953 Tail. cell death|nervous system development neurofilament 0 CAGCAGAGAAGAAGGAGGCAG 0.512 NaN 0 0 0 0.00245 0 15 31 ASCC2 84164 broad.mit.edu 37 22 30198101 30198101 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr22:30198101C>T uc003agr.2 - 14 1555 c.1450G>A c.(1450-1452)GAG>AAG p.E484K ASCC2_uc003ags.2_Intron|ASCC2_uc003agt.2_Missense_Mutation_p.E484K|ASCC2_uc011akr.1_Missense_Mutation_p.E408K NM_032204 NP_115580 Q9H1I8 ASCC2_HUMAN activating signal cointegrator 1 complex subunit 484 CUE. regulation of transcription, DNA-dependent|transcription, DNA-dependent 0 OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259) ATGAAGCCCTCACCAAGGTCT 0.617 NaN 0 0 0 0.001984 0 5 33 MTP18 51537 broad.mit.edu 37 22 30822716 30822716 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr22:30822716G>A uc003ahw.1 + 2 227 c.79G>A c.(79-81)GAG>AAG p.E27K SEC14L2_uc010gvw.1_Intron|MTP18_uc010gvx.1_Intron|MTP18_uc003ahv.1_Missense_Mutation_p.E189K|MTP18_uc010gvy.1_Intron|MTP18_uc003ahx.1_Missense_Mutation_p.E27K NM_016498 NP_057582 Q9UDX5 MTFP1_HUMAN mitochondrial protein 18 kDa isoform a 27 apoptosis|carbon utilization integral to membrane|mitochondrial inner membrane carbonate dehydratase activity|zinc ion binding 0 CTATGCCAATGAGGTGGGCGA 0.478 NaN OREG0026460 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.008291 0 7 19 PATZ1 23598 broad.mit.edu 37 22 31738885 31738885 + Nonsense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr22:31738885G>A uc003akq.2 - 2 1994 c.1333C>T c.(1333-1335)CAG>TAG p.Q445* PATZ1_uc003akp.2_Nonsense_Mutation_p.Q445*|PATZ1_uc003akr.2_Nonsense_Mutation_p.Q445*|PATZ1_uc003aks.2_Nonsense_Mutation_p.Q445* NM_014323 NP_055138 Q9HBE1 PATZ1_HUMAN POZ (BTB) and AT hook containing zinc finger 1 445 C2H2-type 5. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding EWSR1/PATZ1(2) soft_tissue(2) 2 GCCCCTACCTGACACTTGTGA 0.582 NaN 0 0 0 0.004656 0 23 89 SLC5A1 6523 broad.mit.edu 37 22 32495203 32495203 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr22:32495203C>T uc003amc.2 + 12 1546 c.1314C>T c.(1312-1314)ATC>ATT p.I438I SLC5A1_uc011alz.1_Silent_p.I311I NM_000343 NP_000334 P13866 SC5A1_HUMAN solute carrier family 5 (sodium/glucose 438 Helical; (Potential). carbohydrate metabolic process integral to plasma membrane glucose:sodium symporter activity|protein binding skin(1) 1 GCATCAGCATCGCCTGGGTGC 0.453 NaN 0 0 0 0.011902 0 47 127 APOL5 80831 broad.mit.edu 37 22 36122285 36122285 + Nonsense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr22:36122285G>A uc003aof.2 + 3 170 c.170G>A c.(169-171)TGG>TAG p.W57* NM_030642 NP_085145 Q9BWW9 APOL5_HUMAN apolipoprotein L5 57 lipid metabolic process|lipid transport|lipoprotein metabolic process cytoplasm|extracellular region high-density lipoprotein particle binding|lipid binding|protein binding 0 TGCCAGAGTTGGAAAATTAAC 0.453 NaN 0 0 0 0.00245 0 14 54 APOL5 80831 broad.mit.edu 37 22 36122301 36122301 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr22:36122301G>A uc003aof.2 + 3 186 c.186G>A c.(184-186)TTG>TTA p.L62L NM_030642 NP_085145 Q9BWW9 APOL5_HUMAN apolipoprotein L5 62 lipid metabolic process|lipid transport|lipoprotein metabolic process cytoplasm|extracellular region high-density lipoprotein particle binding|lipid binding|protein binding 0 TTAACAATTTGATGTCAACTG 0.458 NaN 0 0 0 0.012213 0 30 34 MYH9 4627 broad.mit.edu 37 22 36690984 36690984 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr22:36690984C>T uc003apg.2 - 27 3855 c.3624G>A c.(3622-3624)ACG>ACA p.T1208T NM_002473 NP_002464 P35579 MYH9_HUMAN myosin, heavy polypeptide 9, non-muscle 1208 Potential. 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 GCACCCGCTTCGTCTGCTCCA 0.587 NaN T ALK ALCL Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome Hereditary_Macrothrombocytopenia_MYH9-associated 0 0 0 0.013726 0 31 74 NCF4 4689 broad.mit.edu 37 22 37268449 37268449 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr22:37268449C>G uc003apy.3 + 7 793 c.609C>G c.(607-609)ATC>ATG p.I203M NCF4_uc003apz.3_Missense_Mutation_p.I203M NM_000631 NP_000622 Q15080 NCF4_HUMAN neutrophil cytosolic factor 4 isoform 1 203 SH3. cell communication|immune response|oxidation-reduction process cytosol|NADPH oxidase complex phosphatidylinositol binding|protein dimerization activity ovary(1) 1 TCAGTCGGATCAACAAAGACT 0.254 NaN 0 0 0 0.005443 0 26 62 CSF2RB 1439 broad.mit.edu 37 22 37331726 37331726 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr22:37331726C>T uc003aqa.3 + 12 1678 c.1461C>T c.(1459-1461)TTC>TTT p.F487F CSF2RB_uc003aqc.3_Silent_p.F493F NM_000395 NP_000386 P32927 IL3RB_HUMAN colony stimulating factor 2 receptor, beta 487 Cytoplasmic (Potential). respiratory gaseous exchange granulocyte macrophage colony-stimulating factor receptor complex cytokine receptor activity skin(2)|pancreas(1) 3 Sargramostim(DB00020) GCCACCTGTTCCAGGTAGGAA 0.612 NaN 0 0 0 0.000602 0 5 14 CYTH4 27128 broad.mit.edu 37 22 37688736 37688736 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr22:37688736G>A uc003arf.2 + 2 210 c.94G>A c.(94-96)GAC>AAC p.D32N CYTH4_uc003ard.3_Missense_Mutation_p.D32N|CYTH4_uc003are.2_Missense_Mutation_p.D32N|CYTH4_uc011amw.1_5'UTR|CYTH4_uc010gxe.2_Intron NM_013385 NP_037517 Q9UIA0 CYH4_HUMAN cytohesin 4 32 Potential. regulation of ARF protein signal transduction|regulation of cell adhesion cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity ovary(2) 2 GCTCCTGGAGGACATCCAGGT 0.617 NaN 0 0 0 0.014323 0 23 22 PDGFB 5155 broad.mit.edu 37 22 39629484 39629484 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr22:39629484G>C uc003axf.2 - 3 1195 c.206C>G c.(205-207)TCT>TGT p.S69C PDGFB_uc003axe.2_Missense_Mutation_p.S54C NM_002608 NP_002599 P01127 PDGFB_HUMAN platelet-derived growth factor beta isoform 1 69 activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|Golgi membrane|platelet alpha granule lumen collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity COL1A1/PDGFB(372) soft_tissue(372)|central_nervous_system(1) 373 Melanoma(58;0.04) Becaplermin(DB00102) CTCGCCTCCAGAGTGGGAGCG 0.607 NaN T COL1A1 DFSP 0 0 0 0.006214 0 10 34 PDGFB 5155 broad.mit.edu 37 22 39639936 39639936 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr22:39639936G>A uc003axf.2 - 1 1022 c.33C>T c.(31-33)CTC>CTT p.L11L NM_002608 NP_002599 P01127 PDGFB_HUMAN platelet-derived growth factor beta isoform 1 11 activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|Golgi membrane|platelet alpha granule lumen collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity COL1A1/PDGFB(372) soft_tissue(372)|central_nervous_system(1) 373 Melanoma(58;0.04) Becaplermin(DB00102) GGTAGCAGCAGAGAGACAGGA 0.582 NaN T COL1A1 DFSP 0 0 0 0.004672 0 3 8 CACNA1I 8911 broad.mit.edu 37 22 40061947 40061947 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr22:40061947C>T uc003ayc.2 + 23 4040 c.4040C>T c.(4039-4041)TCG>TTG p.S1347L CACNA1I_uc003ayd.2_Missense_Mutation_p.S1312L|CACNA1I_uc003aye.2_Missense_Mutation_p.S1262L|CACNA1I_uc003ayf.2_Missense_Mutation_p.S1227L NM_021096 NP_066919 Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, 1347 Extracellular (Potential).|III. axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(1)|central_nervous_system(1) 2 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) ACCAACCGCTCGGACTGCATG 0.597 NaN 0 0 0 0.004482 0 8 23 CACNA1I 8911 broad.mit.edu 37 22 40078519 40078519 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr22:40078519G>A uc003ayc.2 + 35 5683 c.5683G>A c.(5683-5685)GAG>AAG p.E1895K CACNA1I_uc003ayd.2_Missense_Mutation_p.E1860K|CACNA1I_uc003aye.2_Missense_Mutation_p.E1810K|CACNA1I_uc003ayf.2_Missense_Mutation_p.E1775K NM_021096 NP_066919 Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, 1895 Cytoplasmic (Potential). axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(1)|central_nervous_system(1) 2 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) GGACCCACCTGAGCCCATGCG 0.607 NaN 0 0 0 0.007291 0 23 50 GRAP2 9402 broad.mit.edu 37 22 40343156 40343156 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr22:40343156G>A uc003ayh.1 + 2 309 c.46G>A c.(46-48)GAA>AAA p.E16K GRAP2_uc003ayi.2_RNA|GRAP2_uc011aom.1_Intron|GRAP2_uc011aon.1_Intron|GRAP2_uc010gya.1_Missense_Mutation_p.E16K|GRAP2_uc011aoo.1_5'UTR|GRAP2_uc011aop.1_Missense_Mutation_p.E16K|GRAP2_uc011aoq.1_Intron|GRAP2_uc003ayj.1_Missense_Mutation_p.E16K NM_004810 NP_004801 O75791 GRAP2_HUMAN GRB2-related adaptor protein 2 16 SH3 1. cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway cytosol SH3/SH2 adaptor activity upper_aerodigestive_tract(1)|central_nervous_system(1) 2 AGGTGAGGATGAACTGAGCTT 0.498 NaN 0 0 0 0.010504 0 20 48 TNRC6B 23112 broad.mit.edu 37 22 40662285 40662285 + Nonsense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr22:40662285C>G uc011aor.1 + 5 2262 c.2051C>G c.(2050-2052)TCA>TGA p.S684* TNRC6B_uc003aym.2_Intron|TNRC6B_uc003ayn.3_Nonsense_Mutation_p.S684*|TNRC6B_uc003ayo.2_Nonsense_Mutation_p.S488* NM_001162501 NP_001155973 Q9UPQ9 TNR6B_HUMAN trinucleotide repeat containing 6B isoform 1 684 gene silencing by RNA|regulation of translation cytoplasmic mRNA processing body nucleotide binding|RNA binding 0 GGGGAGCTCTCAGCCTCTACA 0.552 NaN 0 0 0 0.004672 0 3 4 SGSM3 27352 broad.mit.edu 37 22 40805700 40805700 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr22:40805700G>A uc003ayu.1 + 22 2396 c.2187G>A c.(2185-2187)CTG>CTA p.L729L SGSM3_uc011aot.1_Silent_p.L640L|SGSM3_uc010gyd.1_Silent_p.L800L NM_015705 NP_056520 Q96HU1 SGSM3_HUMAN small G protein signaling modulator 3 729 cell cycle arrest|Rap protein signal transduction cytoplasm Rab GTPase activator activity|Rab GTPase binding ovary(2) 2 AGCAGCCCCTGAAGGAGGGCG 0.662 NaN 0 0 0 0.010504 0 16 38 PKDREJ 10343 broad.mit.edu 37 22 46654093 46654093 + Silent SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr22:46654093C>G uc003bhh.2 - 1 5127 c.5127G>C c.(5125-5127)CTG>CTC p.L1709L NM_006071 NP_006062 Q9NTG1 PKDRE_HUMAN receptor for egg jelly-like protein precursor 1709 Helical; (Potential). acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity breast(3)|ovary(2) 5 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) AACTCAGAAACAGGAGTGCTC 0.403 NaN 0 0 0 0.006214 0 9 89 TRABD 80305 broad.mit.edu 37 22 50635718 50635718 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr22:50635718G>A uc003bjq.1 + 6 555 c.469G>A c.(469-471)GCA>ACA p.A157T TRABD_uc003bjr.1_Missense_Mutation_p.A41T|TRABD_uc003bjs.1_Missense_Mutation_p.A157T|TRABD_uc003bjt.1_Missense_Mutation_p.A157T|TRABD_uc003bju.1_Missense_Mutation_p.A157T|TRABD_uc003bjv.2_Missense_Mutation_p.A157T|TRABD_uc003bjw.1_Missense_Mutation_p.A157T NM_025204 NP_079480 Q9H4I3 TRABD_HUMAN TraB domain containing 157 0 all_cancers(38;1.07e-07)|all_epithelial(38;9.6e-07)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162) LUAD - Lung adenocarcinoma(64;0.105) GAAGGTGTCTGCACACATCAC 0.662 NaN 0 0 0 0.008291 0 11 37 BHLHE40 8553 broad.mit.edu 37 3 5022016 5022016 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:5022016G>A uc003bqf.2 + 3 488 c.181G>A c.(181-183)GAG>AAG p.E61K uc003bqe.1_5'Flank|uc010hce.1_5'Flank|BHLHE40_uc011asw.1_5'UTR NM_003670 NP_003661 O14503 BHE40_HUMAN basic helix-loop-helix family, member e40 61 Basic motif. Golgi apparatus|nucleolus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 CCGGCTCATCGAGAAAAAGAG 0.567 NaN OREG0015367 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.00874 0 38 7 SRGAP3 9901 broad.mit.edu 37 3 9055453 9055453 + Silent SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:9055453C>G uc003brf.1 - 16 2563 c.1887G>C c.(1885-1887)GTG>GTC p.V629V SRGAP3_uc003brg.1_Silent_p.V605V NM_014850 NP_055665 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 629 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(4) central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1) 9 OV - Ovarian serous cystadenocarcinoma(96;0.0563) ATCTCATGACCACAATGACCA 0.552 NaN T RAF1 pilocytic astrocytoma 0 0 0 0.004482 0 6 111 CAMK1 8536 broad.mit.edu 37 3 9803376 9803376 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:9803376G>A uc003bst.2 - 6 673 c.495C>T c.(493-495)CTC>CTT p.L165L OGG1_uc003bsk.2_Intron|OGG1_uc003bsl.2_Intron|OGG1_uc003bsm.2_Intron|OGG1_uc003bsn.2_Intron|OGG1_uc003bso.2_Intron|CAMK1_uc003bsu.2_RNA|CAMK1_uc003bss.2_5'Flank|uc003bsv.1_RNA NM_003656 NP_003647 Q14012 KCC1A_HUMAN calcium/calmodulin-dependent protein kinase I 165 Protein kinase. cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity ovary(1)|skin(1) 2 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.0475) CCATCTTGGAGAGGCCAAAGT 0.602 NaN 0 0 0 0.00623 0 40 86 IL17RC 84818 broad.mit.edu 37 3 9959040 9959040 + Missense_Mutation SNP G G A rs112532783 byFrequency TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:9959040G>A uc003bua.2 + 1 277 c.41G>A c.(40-42)CGA>CAA p.R14Q CIDEC_uc003bto.2_Intron|IL17RC_uc010hcr.2_RNA|IL17RC_uc011ato.1_RNA|IL17RC_uc010hcs.2_Missense_Mutation_p.R14Q|IL17RC_uc003btz.2_Missense_Mutation_p.R14Q|IL17RC_uc011atp.1_5'UTR|IL17RC_uc003bud.2_5'UTR|IL17RC_uc003bub.2_Missense_Mutation_p.R14Q|IL17RC_uc010hct.2_Missense_Mutation_p.R14Q|IL17RC_uc010hcu.2_Missense_Mutation_p.R14Q|IL17RC_uc010hcv.2_Missense_Mutation_p.R14Q|IL17RC_uc011atq.1_Missense_Mutation_p.R14Q|IL17RC_uc003buc.2_5'UTR NM_153461 NP_703191 Q8NAC3 I17RC_HUMAN interleukin 17 receptor C isoform 1 precursor 14 integral to membrane|plasma membrane receptor activity ovary(1)|pancreas(1) 2 GCACTGGGCCGAAGCCCAGTG 0.657 NaN 0 0 0 0.00499 0 12 70 CRELD1 78987 broad.mit.edu 37 3 9986069 9986069 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:9986069G>A uc003bug.2 + 11 1187 c.1069G>A c.(1069-1071)GAG>AAG p.E357K CIDEC_uc003bto.2_Intron|CRELD1_uc003buf.2_Silent_p.Q421Q|CRELD1_uc003buh.2_Missense_Mutation_p.E357K|CRELD1_uc003bui.2_Missense_Mutation_p.E357K|CRELD1_uc003buj.2_RNA NM_001077415 NP_001070883 Q96HD1 CREL1_HUMAN cysteine-rich with EGF-like domains 1 isoform 3 357 Extracellular (Potential). cardiac septum development|endocardial cushion development integral to membrane calcium ion binding ovary(1) 1 CTTCTTCTCAGAGATGACAGA 0.547 NaN 0 0 0 0.006999 0 38 288 PRRT3 285368 broad.mit.edu 37 3 9988960 9988960 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:9988960C>T uc003bul.2 - 4 2027 c.1897G>A c.(1897-1899)GCC>ACC p.A633T CIDEC_uc003bto.2_Intron|PRRT3_uc003buk.2_RNA NM_207351 NP_997234 Q5FWE3 PRRT3_HUMAN proline-rich transmembrane protein 3 precursor 633 Cytoplasmic (Potential). integral to membrane 0 CCCGGGCTGGCATCCCAGCCC 0.766 NaN 0 0 0 0.001984 0 6 0 FANCD2 2177 broad.mit.edu 37 3 10070355 10070355 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:10070355G>C uc003buw.2 + 2 92 c.14G>C c.(13-15)AGA>ACA p.R5T CIDEC_uc003bto.2_5'Flank|FANCD2_uc003bux.1_Missense_Mutation_p.R5T|FANCD2_uc003buy.1_Missense_Mutation_p.R5T|CIDECP_uc003bus.2_5'Flank|CIDECP_uc003but.2_5'Flank|CIDECP_uc003buu.1_5'Flank|FANCD2_uc003buv.2_Missense_Mutation_p.R5T NM_033084 NP_149075 Q9BXW9 FACD2_HUMAN Fanconi anemia complementation group D2 isoform 5 Interaction with FANCE. DNA repair|response to gamma radiation nucleoplasm protein binding|protein binding central_nervous_system(2)|ovary(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(96;0.148) GTTTCCAAAAGAAGACTGTCA 0.388 NaN D|Mis|N|F AML|leukemia Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 0 0 0 0.001984 0 7 105 FANCD2 2177 broad.mit.edu 37 3 10127604 10127604 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:10127604C>T uc003buw.2 + 33 3411 c.3333C>T c.(3331-3333)CTC>CTT p.L1111L FANCD2_uc003bux.1_Silent_p.L1111L|FANCD2_uc003buy.1_Silent_p.L1111L|FANCD2_uc010hcw.1_RNA|C3orf24_uc003buz.2_Intron NM_033084 NP_149075 Q9BXW9 FACD2_HUMAN Fanconi anemia complementation group D2 isoform 1111 DNA repair|response to gamma radiation nucleoplasm protein binding|protein binding central_nervous_system(2)|ovary(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(96;0.148) AGGAACTACTCAGGTGAGTCA 0.428 NaN D|Mis|N|F AML|leukemia Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 0 0 0 0.01441 0 179 27 IQSEC1 9922 broad.mit.edu 37 3 12950806 12950806 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:12950806C>T uc003bxt.2 - 11 2596 c.2587G>A c.(2587-2589)GAA>AAA p.E863K IQSEC1_uc003bxu.3_Missense_Mutation_p.E741K|IQSEC1_uc011auw.1_Missense_Mutation_p.E849K NM_014869 NP_055684 Q6DN90 IQEC1_HUMAN IQ motif and Sec7 domain 1 isoform b 863 PH.|Potential. regulation of ARF protein signal transduction cytoplasm|nucleus ARF guanyl-nucleotide exchange factor activity ovary(1) 1 TCTTGGACTTCCGCAATGGAC 0.537 NaN 0 0 0 0.01441 0 68 174 FGD5 152273 broad.mit.edu 37 3 14949214 14949214 + Missense_Mutation SNP G G T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:14949214G>T uc003bzc.2 + 10 3442 c.3332G>T c.(3331-3333)GGA>GTA p.G1111V FGD5_uc011avk.1_Missense_Mutation_p.G1111V|FGD5_uc003bzd.2_Missense_Mutation_p.G189V NM_152536 NP_689749 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 1111 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(3)|kidney(1)|pancreas(1) 5 CTCCAGCCAGGAAGGGTGAGT 0.642 NaN 1 0 1.12685e-05 0.004482 1.1518e-05 4 22 STAC 6769 broad.mit.edu 37 3 36570456 36570456 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:36570456G>C uc003cgh.1 + 10 1128 c.1089G>C c.(1087-1089)CAG>CAC p.Q363H STAC_uc011aya.1_Missense_Mutation_p.Q302H NM_003149 NP_003140 Q99469 STAC_HUMAN SH3 and cysteine rich domain 363 intracellular signal transduction cytoplasm|soluble fraction metal ion binding skin(2)|ovary(1)|pancreas(1) 4 AACAGGGGCAGATAACACTGA 0.343 NaN 0 0 0 0.003954 0 24 24 EPM2AIP1 9852 broad.mit.edu 37 3 37033664 37033664 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:37033664G>A uc003cgk.2 - 1 1132 c.905C>T c.(904-906)TCC>TTC p.S302F MLH1_uc011aye.1_5'Flank|MLH1_uc003cgl.2_5'Flank|MLH1_uc011ayb.1_5'Flank|MLH1_uc010hge.2_5'Flank|MLH1_uc003cgn.3_5'Flank|MLH1_uc011ayc.1_5'Flank|MLH1_uc011ayd.1_5'Flank|MLH1_uc003cgo.2_5'Flank NM_014805 NP_055620 Q7L775 EPMIP_HUMAN EPM2A interacting protein 1 302 endoplasmic reticulum 0 TATCCATTCGGATATGGTATT 0.393 NaN 0 0 0 0.008871 0 20 82 XYLB 9942 broad.mit.edu 37 3 38415956 38415956 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:38415956C>T uc003cic.2 + 11 960 c.851C>T c.(850-852)TCG>TTG p.S284L XYLB_uc011ayp.1_Missense_Mutation_p.S147L|XYLB_uc003cid.1_Missense_Mutation_p.S206L NM_005108 NP_005099 O75191 XYLB_HUMAN xylulokinase 284 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) TTCTCAGCGTCGCTGGCAGGC 0.587 NaN 0 0 0 0.003271 0 23 16 CX3CR1 1524 broad.mit.edu 37 3 39307491 39307491 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:39307491C>G uc003cjl.2 - 2 602 c.510G>C c.(508-510)CAG>CAC p.Q170H NM_001337 NP_001328 P49238 CX3C1_HUMAN chemokine (C-X3-C motif) receptor 1 170 Extracellular (Potential). cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding integral to plasma membrane chemokine receptor activity lung(3) 3 KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699) CATTTTCTTTCTGCTTTGTGA 0.547 NaN 0 0 0 0.00874 0 41 91 ENTPD3 956 broad.mit.edu 37 3 40456182 40456182 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:40456182G>A uc003ckd.3 + 6 540 c.448G>A c.(448-450)GAA>AAA p.E150K ENTPD3_uc010hhy.2_Missense_Mutation_p.E150K|uc003cke.3_Intron NM_001248 NP_001239 O75355 ENTP3_HUMAN ectonucleoside triphosphate diphosphohydrolase 150 Extracellular (Potential). integral to membrane ATP binding|hydrolase activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758) GTTGCAAAATGAAACAGCAGC 0.423 NaN 0 0 0 0.01441 0 55 53 CTNNB1 1499 broad.mit.edu 37 3 41266101 41266101 + Missense_Mutation SNP C C T rs121913400 TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 C T C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:41266101C>T uc010hia.1 + 4 254 c.98C>T c.(97-99)TCT>TTT p.S33F CTNNB1_uc003ckp.2_Missense_Mutation_p.S33F|CTNNB1_uc003ckq.2_Missense_Mutation_p.S33F|CTNNB1_uc003ckr.2_Missense_Mutation_p.S33F|CTNNB1_uc011azf.1_Missense_Mutation_p.S26F|CTNNB1_uc011azg.1_Intron|uc010hib.1_RNA NM_001904 NP_001895 P35222 CTNB1_HUMAN beta-catenin 33 S -> F (in PTR, MDB and hepatocellular carcinoma).|Missing (in hepatocellular carcinoma).|S -> Y (in colorectal cancer and PTR; enhances transactivation of target genes).|S -> L (in hepatocellular carcinoma). adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding p.S33C(131)|p.S33F(79)|p.A5_A80del(63)|p.S33Y(52)|p.S33P(37)|p.S33A(14)|p.H24_S47del(9)|p.A5_A80>D(7)|p.A5_Q143del(7)|p.Q28_H134del(5)|p.S33L(4)|p.W25_I140del(4)|p.S33N(3)|p.S23_S33del(3)|p.V22_G38del(3)|p.T3_A126del(2)|p.M5_N141>D(2)|p.D32_S47del(2)|p.W25_H36del(2)|p.Y30_S33del(2)|p.V22_S33del(2)|p.V22_L139>V(2)|p.A5_Y142>D(2)|p.A5fs*7(2)|p.?(2)|p.L10_N141del(2)|p.D6_A43del(1)|p.E9_S47del(1)|p.Q28_Q61del(1)|p.S33T(1)|p.S33S(1)|p.A20_R151del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S29_H36del(1)|p.Y30_A97del(1)|p.A20_A80del(1)|p.Q28_A43del(1)|p.E15_I140>V(1)|p.D17_P128del(1)|p.H24_M131del(1)|p.L7_I140del(1)|p.K19_Y142>V(1)|p.A20_L148del(1)|p.V22_A80del(1)|p.W25_I35del(1)|p.V22_G80>NNNNN(1)|p.A5_I35del(1)|p.A20_Q143del(1)|p.A13_R151del(1)|p.S23_I140del(1)|p.M1_A87del(1)|p.W25_S33del(1)|p.V22_T102del(1)|p.S33_G34del(1)|p.S23_A39del(1)|p.A21_A80del(1)|p.D6_I140del(1)|p.Q28_I140del(1)|p.E9_A80del(1)|p.M14_S45del(1)|p.M8_G50del(1)|p.A5_G80>(1)|p.D32_H36>D(1)|p.S33_G34insGTS(1)|p.P16_K133del(1)|p.A5_T59del(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.A5_R90del(1)|p.W25_A80del(1)|p.M8_A80del(1)|p.S33_S37del(1)|p.E9_I140del(1)|p.D32_S33insS(1)|p.S33_G34insS(1)|p.Y30_T40del(1)|p.S33_G34insGI(1)|p.M1_T42del(1)|p.A5_Q143>E(1)|p.A5_Q72del(1)|p.Y30_A80del(1)|p.D32fs*9(1)|p.D6_K133del(1)|p.A5_T42del(1)|p.A5_D144>D(1)|p.A5_T40del(1)|p.D17_A126del(1)|p.A5_E54del(1)|p.S23_I35del(1)|p.V22_S71>A(1)|p.V22_Y64del(1)|p.A20_Q72del(1)|p.A20_S111del(1)|p.D32_H36del(1) CTNNB1/PLAG1(60) liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1) 3166 KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294) Lithium(DB01356) TACCTGGACTCTGGAATCCAT 0.488 S33C(SKMEL1_SKIN)|S33F(SW1573_LUNG)|S33Y(SW48_LARGE_INTESTINE) 15 H|Mis|T PLAG1 colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma Pilomatrixoma_Familial_Clustering_of 0 0 0 0.001984 0 7 31 ZNF197 10168 broad.mit.edu 37 3 44684773 44684773 + Missense_Mutation SNP G G T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:44684773G>T uc003cnm.2 + 6 2357 c.2151G>T c.(2149-2151)ATG>ATT p.M717I ZNF197_uc003cnn.2_Intron|ZNF197_uc003cno.2_Intron|ZNF197_uc003cnp.2_Intron NM_006991 NP_008922 O14709 ZN197_HUMAN zinc finger protein 197 isoform 1 717 C2H2-type 13. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3)|skin(1) 4 KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598) CCTTTATTATGAGCAAAAGTT 0.423 NaN 1 0 5.73332e-34 0.01441 6.08376e-34 65 88 ZNF35 7584 broad.mit.edu 37 3 44700379 44700379 + Missense_Mutation SNP G G T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:44700379G>T uc003cnq.2 + 4 745 c.524G>T c.(523-525)AGA>ATA p.R175I ZNF35_uc003cnr.2_Missense_Mutation_p.R15I NM_003420 NP_003411 P13682 ZNF35_HUMAN zinc finger protein 35 175 Globular domain. cellular response to retinoic acid|spermatogenesis nucleus|perinuclear region of cytoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Ovarian(412;0.0228) OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595) AAAGATTTCAGACAAGTGATA 0.383 NaN 1 0 3.12436e-70 0.01441 3.32673e-70 109 38 CLEC3B 7123 broad.mit.edu 37 3 45077285 45077285 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:45077285G>A uc003cok.3 + 3 574 c.478G>A c.(478-480)GAG>AAG p.E160K CLEC3B_uc003col.2_Missense_Mutation_p.E118K NM_003278 NP_003269 P05452 TETN_HUMAN C-type lectin domain family 3, member B 160 C-type lectin. skeletal system development extracellular space protein binding|sugar binding 0 BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CTGGGAGACTGAGATCACCGC 0.662 NaN 0 0 0 0.005443 0 23 10 KLHL18 23276 broad.mit.edu 37 3 47378043 47378043 + Missense_Mutation SNP T T C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:47378043T>C uc003crd.2 + 7 1043 c.917T>C c.(916-918)GTG>GCG p.V306A KLHL18_uc003crc.2_Missense_Mutation_p.V306A|KLHL18_uc011bav.1_Missense_Mutation_p.V194A|KLHL18_uc010hjq.1_Missense_Mutation_p.V162A NM_025010 NP_079286 O94889 KLH18_HUMAN kelch-like 18 306 Kelch 1. 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) CTGAATGTGGTGGAAGTGTTC 0.478 NaN 0 0 0 0.008361 0 30 14 SMARCC1 6599 broad.mit.edu 37 3 47676775 47676775 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:47676775C>T uc003crq.2 - 24 2669 c.2551G>A c.(2551-2553)GAT>AAT p.D851N SMARCC1_uc011bbc.1_RNA|SMARCC1_uc011bbd.1_Missense_Mutation_p.D742N NM_003074 NP_003065 Q92922 SMRC1_HUMAN SWI/SNF-related matrix-associated 851 Glu-rich. chromatin remodeling|nervous system development|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex DNA binding|protein N-terminus binding|transcription coactivator activity skin(2)|lung(1) 3 BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) TTCCCAGTATCACTTTCTCTT 0.433 NaN 0 0 0 0.004289 0 39 20 ZNF589 51385 broad.mit.edu 37 3 48309504 48309504 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:48309504C>T uc003csl.3 + 4 389 c.323C>T c.(322-324)CCA>CTA p.P108L ZNF589_uc010hjt.1_Missense_Mutation_p.P105L|ZNF589_uc003csn.2_RNA|ZNF589_uc011bbg.1_Missense_Mutation_p.P107L|ZNF589_uc003csm.2_Intron NM_016089 NP_057173 Q86UQ0 ZN589_HUMAN zinc finger protein 589 108 KRAB. regulation of transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000649)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CATCCTATTCCAGGTTTCCAT 0.507 NaN 0 0 0 0.004007 0 17 60 PLXNB1 5364 broad.mit.edu 37 3 48447188 48447188 + Silent SNP G G A rs143335184 TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:48447188G>A uc003csw.2 - 37 6516 c.6246C>T c.(6244-6246)CTC>CTT p.L2082L PLXNB1_uc003cst.2_Silent_p.L532L|PLXNB1_uc003csu.2_Silent_p.L1899L|PLXNB1_uc003csx.2_Silent_p.L2082L NM_002673 NP_002664 O43157 PLXB1_HUMAN plexin B1 precursor 2082 Cytoplasmic (Potential). axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding ovary(2)|pancreas(1)|breast(1)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) CTCGCGCCCCGAGGTCTCCGG 0.617 NaN 0 0 0 0.00308 0 7 17 CCDC51 79714 broad.mit.edu 37 3 48474369 48474369 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:48474369C>T uc003csz.2 - 4 806 c.685G>A c.(685-687)GAG>AAG p.E229K PLXNB1_uc003csx.2_5'Flank|CCDC51_uc003cta.2_Missense_Mutation_p.E120K|CCDC51_uc003ctb.2_Missense_Mutation_p.E120K|CCDC51_uc003ctc.2_Missense_Mutation_p.E229K|CCDC51_uc003ctd.2_Missense_Mutation_p.E120K NM_024661 NP_078937 Q96ER9 CCD51_HUMAN coiled-coil domain containing 51 229 integral to membrane 0 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) GCCTTCAGCTCCTGTAGTCGC 0.597 NaN 0 0 0 0.00333 0 26 89 ATRIP 84126 broad.mit.edu 37 3 48506933 48506933 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:48506933C>G uc003ctf.1 + 13 2388 c.2356C>G c.(2356-2358)CCC>GCC p.P786A ATRIP_uc011bbj.1_Missense_Mutation_p.P659A|ATRIP_uc003ctg.1_Missense_Mutation_p.P759A|TREX1_uc010hjy.2_5'UTR|TREX1_uc003ctj.2_5'UTR|TREX1_uc003ctk.2_5'Flank|TREX1_uc010hjz.2_5'Flank|TREX1_uc010hka.2_5'Flank NM_130384 NP_569055 Q8WXE1 ATRIP_HUMAN ATR interacting protein isoform 1 786 DNA damage checkpoint|DNA repair|DNA replication nucleoplasm protein binding|protein serine/threonine kinase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) TGTGGAAGACCCCGAGGTGGA 0.587 NaN Other_conserved_DNA_damage_response_genes OREG0015557 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.001855 0 13 27 COL7A1 1294 broad.mit.edu 37 3 48602351 48602351 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:48602351G>A uc003ctz.2 - 117 8684 c.8683C>T c.(8683-8685)CGG>TGG p.R2895W UCN2_uc003cty.1_5'Flank NM_000094 NP_000085 Q02388 CO7A1_HUMAN alpha 1 type VII collagen precursor 2895 Nonhelical region (NC2).|BPTI/Kunitz inhibitor. 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) GTCACAGCCCGATGGTACCAG 0.622 NaN 0 0 0 0.004007 0 13 69 COL7A1 1294 broad.mit.edu 37 3 48626328 48626328 + Nonsense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:48626328G>C uc003ctz.2 - 18 2416 c.2415C>G c.(2413-2415)TAC>TAG p.Y805* NM_000094 NP_000085 Q02388 CO7A1_HUMAN alpha 1 type VII collagen precursor 805 Nonhelical region (NC1).|Fibronectin type-III 7. 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) AGGCCAGTCTGTAAGCTGTGG 0.617 NaN 0 0 0 0.008291 0 9 42 CELSR3 1951 broad.mit.edu 37 3 48664437 48664437 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:48664437C>G uc003cuf.1 - 53 12103 c.12103G>C c.(12103-12105)GAC>CAC p.D4035H SLC26A6_uc003cug.2_Missense_Mutation_p.D628H|SLC26A6_uc003cuh.2_Missense_Mutation_p.D649H|SLC26A6_uc010hke.2_Missense_Mutation_p.D481H|SLC26A6_uc003cuk.2_Missense_Mutation_p.D541H|SLC26A6_uc003cui.2_Missense_Mutation_p.D648H|SLC26A6_uc003cuj.2_Missense_Mutation_p.D630H|SLC26A6_uc011bbp.1_Missense_Mutation_p.D613H NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN cadherin EGF LAG seven-pass G-type receptor 3 Error:Variant_position_missing_in_Q9NYQ7_after_alignment homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2) 11 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) GCCTTGGAGTCTTCTTGACCA 0.592 NaN 0 0 0 0.005443 0 19 107 CELSR3 1951 broad.mit.edu 37 3 48671065 48671065 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:48671065C>T uc003cuf.1 - 37 10209 c.10209G>A c.(10207-10209)CCG>CCA p.P3403P SLC26A6_uc003cug.2_5'UTR|SLC26A6_uc003cuh.2_Silent_p.P9P|SLC26A6_uc010hke.2_5'UTR|SLC26A6_uc003cuk.2_Silent_p.P9P|SLC26A6_uc003cui.2_Silent_p.P9P|SLC26A6_uc003cuj.2_Silent_p.P9P|SLC26A6_uc011bbp.1_Silent_p.P9P NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN cadherin EGF LAG seven-pass G-type receptor 3 Error:Variant_position_missing_in_Q9NYQ7_after_alignment homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2) 11 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) GTGTGTCCCTCGGTCTGGGGT 0.577 NaN 0 0 0 0.01441 0 63 71 WDR6 11180 broad.mit.edu 37 3 49044905 49044905 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:49044905C>T uc003cvj.2 + 1 269 c.131C>T c.(130-132)TCG>TTG p.S44L WDR6_uc011bbx.1_Missense_Mutation_p.S44L|WDR6_uc011bby.1_Missense_Mutation_p.S44L|WDR6_uc010hkn.2_5'UTR|WDR6_uc011bbz.1_5'Flank NM_018031 NP_060501 Q9NNW5 WDR6_HUMAN WD repeat domain 6 protein 14 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) CGGGCAACCTCGGAGCTTATA 0.627 NaN 0 0 0 0.001168 0 5 8 WDR6 11180 broad.mit.edu 37 3 49050477 49050477 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:49050477G>A uc003cvj.2 + 2 1738 c.1600G>A c.(1600-1602)GAC>AAC p.D534N WDR6_uc011bbx.1_Silent_p.V362V|WDR6_uc011bby.1_Intron|WDR6_uc010hkn.2_Missense_Mutation_p.D478N|WDR6_uc011bbz.1_Missense_Mutation_p.D453N NM_018031 NP_060501 Q9NNW5 WDR6_HUMAN WD repeat domain 6 protein 504 WD 8. 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) ACCCCCAGGTGACTTCCTGGT 0.622 NaN 0 0 0 0.010729 0 10 36 IMPDH2 3615 broad.mit.edu 37 3 49062461 49062461 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:49062461G>C uc003cvt.2 - 11 1255 c.1163C>G c.(1162-1164)TCT>TGT p.S388C NM_000884 NP_000875 P12268 IMDH2_HUMAN inosine monophosphate dehydrogenase 2 388 IMP binding. GMP biosynthetic process|purine base metabolic process cytosol|nucleus IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157) AGCCAGGAGAGAGCCCATCAT 0.577 NaN 0 0 0 0.013537 0 12 63 QARS 5859 broad.mit.edu 37 3 49137494 49137494 + Missense_Mutation SNP C C T rs143072084 by1000genomes TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:49137494C>T uc003cvx.2 - 14 1200 c.1195G>A c.(1195-1197)GAG>AAG p.E399K QARS_uc011bcc.1_5'Flank|QARS_uc011bcd.1_Missense_Mutation_p.E254K|QARS_uc003cvy.2_Missense_Mutation_p.E254K|QARS_uc011bce.1_Missense_Mutation_p.E388K NM_005051 NP_005042 P47897 SYQ_HUMAN glutaminyl-tRNA synthetase 399 glutaminyl-tRNA aminoacylation cytosol|mitochondrial matrix ATP binding|glutamine-tRNA ligase activity|protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) L-Glutamine(DB00130) AGTGTGGCCTCGCCCTCTGAA 0.557 NaN 0 0 0 0.012319 0 20 82 C3orf62 375341 broad.mit.edu 37 3 49314209 49314209 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:49314209C>T uc003cwn.2 - 1 300 c.97G>A c.(97-99)GAA>AAA p.E33K C3orf62_uc003cwm.2_5'Flank NM_198562 NP_940964 Q6ZUJ4 CC062_HUMAN hypothetical protein LOC375341 33 0 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) CTAACTCCTTCAAAGGCCCGG 0.527 NaN 0 0 0 0.004878 0 35 27 TCTA 6988 broad.mit.edu 37 3 49449866 49449866 + Nonsense_Mutation SNP G G T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:49449866G>T uc003cwv.3 + 1 228 c.7G>T c.(7-9)GAG>TAG p.E3* RHOA_uc010hku.2_5'Flank|RHOA_uc003cwu.2_5'Flank NM_022171 NP_071503 P57738 TCTA_HUMAN T-cell leukemia translocation altered 3 Extracellular (Potential). integral to membrane 0 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) AGTCATGGCGGAGTCCTGGTC 0.706 NaN 1 0 1.62849e-17 0.004007 1.71795e-17 14 16 AMT 275 broad.mit.edu 37 3 49455127 49455127 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:49455127G>A uc003cww.2 - 9 1187 c.1058C>T c.(1057-1059)TCC>TTC p.S353F AMT_uc011bcn.1_3'UTR|AMT_uc003cwx.2_Missense_Mutation_p.S353F|AMT_uc011bco.1_Missense_Mutation_p.S309F|AMT_uc003cwy.2_Missense_Mutation_p.S305F|AMT_uc011bcp.1_Missense_Mutation_p.S256F|AMT_uc011bcq.1_Missense_Mutation_p.S297F NM_000481 NP_000472 P48728 GCST_HUMAN aminomethyltransferase isoform 1 precursor 353 glycine catabolic process mitochondrion aminomethyltransferase activity|transaminase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) NADH(DB00157)|Tetrahydrofolic acid(DB00116) CAGAGAGGGGGAGGGGCAGCC 0.587 NaN 0 0 0 0.007291 0 20 25 APEH 327 broad.mit.edu 37 3 49718651 49718651 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:49718651G>C uc003cxf.2 + 15 1817 c.1417G>C c.(1417-1419)GAG>CAG p.E473Q APEH_uc010hkw.1_Missense_Mutation_p.E473Q NM_001640 NP_001631 P13798 ACPH_HUMAN N-acylaminoacyl-peptide hydrolase 473 proteolysis cytoplasm|nuclear membrane serine-type endopeptidase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) GCCACCCCCAGAGCAAGAGAA 0.617 NaN 0 0 0 0.00632 0 26 27 MST1 4485 broad.mit.edu 37 3 49724697 49724697 + Missense_Mutation SNP A A T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:49724697A>T uc003cxg.2 - 5 564 c.492T>A c.(490-492)AAT>AAA p.N164K MST1_uc011bcs.1_Missense_Mutation_p.N164K|MST1_uc010hkx.2_Missense_Mutation_p.N85K|MST1_uc011bct.1_Missense_Mutation_p.N164K|MST1_uc011bcu.1_RNA|RNF123_uc003cxh.2_5'Flank NM_020998 NP_066278 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth 150 Kringle 1. proteolysis extracellular region serine-type endopeptidase activity lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) CTTCCAGGCCATTCCGGAGAG 0.612 NaN 0 0 0 0.003163 0 15 22 TMEM115 11070 broad.mit.edu 37 3 50396052 50396052 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:50396052G>A uc003dan.1 - 1 888 c.443C>T c.(442-444)GCA>GTA p.A148V NM_007024 NP_008955 Q12893 TM115_HUMAN PL6 protein 148 Helical; (Potential). negative regulation of cell proliferation Golgi apparatus|integral to membrane|nucleus 0 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) TTGCTTGAGTGCCACCAGGAC 0.507 NaN 0 0 0 0.001855 0 14 14 MANF 7873 broad.mit.edu 37 3 51426367 51426367 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:51426367G>A uc003dbc.2 + 4 467 c.405G>A c.(403-405)CTG>CTA p.L135L RBM15B_uc003dbd.2_5'Flank NM_006010 NP_006001 P55145 MANF_HUMAN mesencephalic astrocyte-derived neurotrophic 132 response to unfolded protein extracellular region growth factor activity 0 CAGTGGACCTGAAGAAGCTCC 0.527 NaN OREG0015594 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.009096 0 4 4 RAD54L2 23132 broad.mit.edu 37 3 51672281 51672281 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:51672281G>A uc011bdt.1 + 11 1929 c.1804G>A c.(1804-1806)GGT>AGT p.G602S RAD54L2_uc003dbh.2_Missense_Mutation_p.G193S|RAD54L2_uc011bdu.1_Missense_Mutation_p.G296S|RAD54L2_uc003dbj.2_5'UTR NM_015106 NP_055921 Q9Y4B4 ARIP4_HUMAN RAD54-like 2 602 nucleus ATP binding|DNA binding|helicase activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896) CCGGGACTGTGGTAGCAGCGG 0.522 NaN OREG0015596 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.003954 0 22 27 ERC2 26059 broad.mit.edu 37 3 56114883 56114883 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:56114883C>G uc003dhr.1 - 7 1859 c.1603G>C c.(1603-1605)GAA>CAA p.E535Q ERC2_uc003dht.1_Missense_Mutation_p.E6Q NM_015576 NP_056391 O15083 ERC2_HUMAN cytomatrix protein p110 535 Potential. cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) TCCTTCACTTCTAACATATCT 0.368 NaN 0 0 0 0.012319 0 22 23 CCDC66 285331 broad.mit.edu 37 3 56627024 56627024 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:56627024C>T uc003dhz.2 + 8 1050 c.963C>T c.(961-963)TTC>TTT p.F321F CCDC66_uc003dhy.2_5'UTR|CCDC66_uc003dhu.2_Silent_p.F287F|CCDC66_uc003dhx.2_RNA NM_001141947 NP_001135419 A2RUB6 CCD66_HUMAN coiled-coil domain containing 66 isoform 1 321 breast(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233) AGCACCCTTTCAGTGCTGTGA 0.343 NaN 0 0 0 0.01441 0 49 147 FLNB 2317 broad.mit.edu 37 3 58106996 58106996 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:58106996C>T uc003djj.2 + 20 3057 c.2892C>T c.(2890-2892)TTC>TTT p.F964F FLNB_uc010hne.2_Silent_p.F964F|FLNB_uc003djk.2_Silent_p.F964F|FLNB_uc010hnf.2_Silent_p.F964F|FLNB_uc003djl.2_Silent_p.F795F|FLNB_uc003djm.2_Silent_p.F795F NM_001457 NP_001448 O75369 FLNB_HUMAN filamin B isoform 2 964 Filamin 8. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1) 19 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) ATCAGGAGTTCACCGTTGATA 0.562 NaN 0 0 0 0.010771 0 44 139 FLNB 2317 broad.mit.edu 37 3 58109098 58109098 + Missense_Mutation SNP A A T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:58109098A>T uc003djj.2 + 21 3570 c.3405A>T c.(3403-3405)AAA>AAT p.K1135N FLNB_uc010hne.2_Missense_Mutation_p.K1135N|FLNB_uc003djk.2_Missense_Mutation_p.K1135N|FLNB_uc010hnf.2_Missense_Mutation_p.K1135N|FLNB_uc003djl.2_Missense_Mutation_p.K966N|FLNB_uc003djm.2_Missense_Mutation_p.K966N NM_001457 NP_001448 O75369 FLNB_HUMAN filamin B isoform 2 1135 Interaction with FBLP1.|Filamin 10. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1) 19 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) ACCCCTCTAAAGTCGTGGCAT 0.592 NaN 0 0 0 0.01441 0 73 58 PXK 54899 broad.mit.edu 37 3 58377553 58377553 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:58377553C>T uc003djz.1 + 7 693 c.594C>T c.(592-594)ATC>ATT p.I198I PXK_uc003djx.1_Silent_p.I198I|PXK_uc003djy.1_Silent_p.I181I|PXK_uc003dka.1_Silent_p.I198I|PXK_uc003dkb.1_Silent_p.I115I|PXK_uc003dkc.1_Silent_p.I181I|PXK_uc011bfe.1_Silent_p.I165I|PXK_uc010hnj.1_Silent_p.I165I|PXK_uc003dkd.1_Silent_p.I61I|PXK_uc010hnk.1_Intron NM_017771 NP_060241 Q7Z7A4 PXK_HUMAN PX domain containing serine/threonine kinase 198 Protein kinase. cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission centrosome|cytoplasm|nucleus|plasma membrane actin binding|ATP binding|phosphatidylinositol binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22) AGTGTCTAATCAAACTTCTGC 0.388 NaN 0 0 0 0.01441 0 75 82 SYNPR 132204 broad.mit.edu 37 3 63600994 63600994 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:63600994C>T uc003dlq.2 + 5 1004 c.635C>T c.(634-636)TCA>TTA p.S212L SYNPR_uc003dlp.2_Missense_Mutation_p.S232L|SYNPR_uc011bfk.1_RNA|SYNPR_uc011bfl.1_RNA|SYNPR_uc010hnt.2_Missense_Mutation_p.S221L|SYNPR_uc011bfm.1_RNA NM_144642 NP_653243 Q8TBG9 SYNPR_HUMAN synaptoporin isoform 2 212 Cytoplasmic (Potential).|5 X approximate repeats.|1. cell junction|integral to membrane|synaptic vesicle membrane|synaptosome transporter activity 0 BRCA - Breast invasive adenocarcinoma(55;0.000918)|KIRC - Kidney renal clear cell carcinoma(15;0.0658)|Kidney(15;0.0904) AGATATCTTTCAGATCCAATG 0.468 NaN 0 0 0 0.001168 0 6 26 PRICKLE2 166336 broad.mit.edu 37 3 64142939 64142939 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:64142939C>T uc003dmf.2 - 5 1085 c.499G>A c.(499-501)GAG>AAG p.E167K NM_198859 NP_942559 Q7Z3G6 PRIC2_HUMAN prickle-like 2 167 LIM zinc-binding 1. cytoplasm|nuclear membrane zinc ion binding ovary(4)|skin(1) 5 Lung NSC(201;0.136) BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497) ACCAGGAGCTCATTGCAGACA 0.577 NaN 0 0 0 0.012213 0 24 23 KBTBD8 84541 broad.mit.edu 37 3 67054357 67054357 + Silent SNP T T C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:67054357T>C uc003dmy.2 + 3 1019 c.966T>C c.(964-966)AAT>AAC p.N322N KBTBD8_uc011bfv.1_Intron NM_032505 NP_115894 Q8NFY9 KBTB8_HUMAN T-cell activation kelch repeat protein 322 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) AACCACCAAATGACCTGAGAG 0.443 NaN 0 0 0 0.01441 0 71 77 TMF1 7110 broad.mit.edu 37 3 69074854 69074854 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:69074854G>A uc003dnn.2 - 15 3116 c.2869C>T c.(2869-2871)CAT>TAT p.H957Y TMF1_uc011bfx.1_Missense_Mutation_p.H960Y NM_007114 NP_009045 P82094 TMF1_HUMAN TATA element modulatory factor 1 957 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi membrane|nucleus DNA binding|protein binding|transcription cofactor activity 0 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247) GAGTGATCATGAGACTCATCC 0.368 NaN 0 0 0 0.010818 0 30 72 UBA3 9039 broad.mit.edu 37 3 69112141 69112141 + Missense_Mutation SNP G G T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:69112141G>T uc003dno.2 - 9 705 c.685C>A c.(685-687)CCA>ACA p.P229T UBA3_uc003dnq.2_Missense_Mutation_p.P215T|UBA3_uc011bfy.1_Missense_Mutation_p.P52T|UBA3_uc011bfz.1_Missense_Mutation_p.P52T NM_003968 NP_003959 Q8TBC4 UBA3_HUMAN ubiquitin-activating enzyme 3 isoform 1 229 Interaction with NEDD8. protein neddylation|proteolysis nucleus acid-amino acid ligase activity|ATP binding|protein heterodimerization activity ovary(1) 1 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241) ACCTGTGGTGGATAAAGTTCC 0.388 NaN 1 0 8.27458e-37 0.01441 8.78895e-37 71 63 FOXP1 27086 broad.mit.edu 37 3 71037150 71037150 + Nonsense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:71037150G>A uc003dol.2 - 10 1464 c.1141C>T c.(1141-1143)CAG>TAG p.Q381* FOXP1_uc003dom.2_Nonsense_Mutation_p.Q305*|FOXP1_uc003don.2_RNA|FOXP1_uc003doo.2_Nonsense_Mutation_p.Q381*|FOXP1_uc003dop.2_Nonsense_Mutation_p.Q381*|FOXP1_uc003doq.1_Nonsense_Mutation_p.Q380*|FOXP1_uc003doi.2_Nonsense_Mutation_p.Q281*|FOXP1_uc003doj.2_Nonsense_Mutation_p.Q281*|FOXP1_uc003dok.2_Nonsense_Mutation_p.Q194*|FOXP1_uc003dor.1_Nonsense_Mutation_p.Q159* NM_032682 NP_116071 Q9H334 FOXP1_HUMAN forkhead box P1 isoform 1 381 cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding ovary(1)|lung(1) 2 Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209) BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05) CTTACGGGCTGAGGGGCGGCT 0.493 NaN T PAX5 ALL 0 0 0 0.01441 0 69 194 PROS1 5627 broad.mit.edu 37 3 93611869 93611869 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:93611869G>A uc003drb.3 - 10 1404 c.1063C>T c.(1063-1065)CGT>TGT p.R355C PROS1_uc010hoo.2_Missense_Mutation_p.R224C|PROS1_uc003dqz.3_Missense_Mutation_p.R224C NM_000313 NP_000304 P07225 PROS_HUMAN protein S, alpha preproprotein 355 Laminin G-like 1. R -> H (in PROS1D). leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen calcium ion binding|endopeptidase inhibitor activity large_intestine(1) 1 Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170) TTTCCACCACGAAGTGCAATC 0.393 NaN 0 0 0 0.00308 0 8 120 STX19 415117 broad.mit.edu 37 3 93733304 93733304 + Silent SNP T T C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:93733304T>C uc003drh.1 - 2 1067 c.810A>G c.(808-810)CTA>CTG p.L270L ARL13B_uc003drc.2_Intron|ARL13B_uc010hop.2_Intron|ARL13B_uc003drd.2_Intron|ARL13B_uc003dre.2_Intron|ARL13B_uc003drf.2_Intron|ARL13B_uc003drg.2_Intron NM_001001850 NP_001001850 Q8N4C7 STX19_HUMAN syntaxin 19 270 t-SNARE coiled-coil homology. intracellular protein transport|vesicle-mediated transport membrane SNAP receptor activity 0 ATTTTACAGCTAGTCCAAATT 0.328 NaN 0 0 0 0.005524 0 39 30 MINA 84864 broad.mit.edu 37 3 97668720 97668720 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:97668720G>A uc003drz.1 - 7 1534 c.1028C>T c.(1027-1029)TCT>TTT p.S343F MINA_uc003dry.1_Missense_Mutation_p.S14F|MINA_uc003dsa.1_Missense_Mutation_p.S342F|MINA_uc003dsb.1_Missense_Mutation_p.S343F|MINA_uc003dsc.1_Missense_Mutation_p.S342F|MINA_uc010hpa.1_RNA NM_001042533 NP_001035998 Q8IUF8 MINA_HUMAN MYC induced nuclear antigen isoform a 343 ribosome biogenesis cytoplasm|nucleolus ovary(1) 1 ATCTCCCGCAGAGTAAGGGGG 0.522 NaN 0 0 0 0.001855 0 11 60 ABI3BP 25890 broad.mit.edu 37 3 100471769 100471769 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:100471769C>G uc003dun.2 - 33 2936 c.2851G>C c.(2851-2853)GAA>CAA p.E951Q ABI3BP_uc003duj.2_Missense_Mutation_p.E531Q|ABI3BP_uc003duk.2_Missense_Mutation_p.E660Q|ABI3BP_uc003dul.2_Missense_Mutation_p.E781Q|ABI3BP_uc011bhd.1_Missense_Mutation_p.E905Q|ABI3BP_uc003dum.2_Missense_Mutation_p.E362Q NM_015429 NP_056244 Q7Z7G0 TARSH_HUMAN ABI gene family, member 3 (NESH) binding protein 951 extracellular space ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1) 4 AAGGGTCTTTCAGTCCAGATG 0.373 NaN 0 0 0 0.004878 0 36 40 MYH15 22989 broad.mit.edu 37 3 108102561 108102561 + Nonsense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:108102561G>A uc003dxa.1 - 41 5764 c.5707C>T c.(5707-5709)CAA>TAA p.Q1903* NM_014981 NP_055796 Q9Y2K3 MYH15_HUMAN myosin, heavy polypeptide 15 1903 Potential. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(5)|central_nervous_system(2) 7 GAAAGGTATTGATTGGCTTGT 0.333 NaN 0 0 0 0.005443 0 28 102 MYH15 22989 broad.mit.edu 37 3 108139937 108139937 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:108139937C>G uc003dxa.1 - 29 3944 c.3887G>C c.(3886-3888)AGT>ACT p.S1296T NM_014981 NP_055796 Q9Y2K3 MYH15_HUMAN myosin, heavy polypeptide 15 1296 Potential. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(5)|central_nervous_system(2) 7 TTACTTACCACTCTCACTCCA 0.463 NaN 0 0 0 0.013726 0 34 133 KIAA2018 205717 broad.mit.edu 37 3 113377710 113377710 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:113377710G>A uc003eam.2 - 7 3230 c.2819C>T c.(2818-2820)TCA>TTA p.S940L KIAA2018_uc003eal.2_Missense_Mutation_p.S884L NM_001009899 NP_001009899 Q68DE3 K2018_HUMAN hypothetical protein LOC205717 940 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity skin(2)|ovary(1) 3 TACATTGGCTGAAGCGCAGGG 0.418 NaN 0 0 0 0.01441 0 127 123 DRD3 1814 broad.mit.edu 37 3 113850098 113850098 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:113850098C>T uc003ebd.2 - 7 1296 c.873G>A c.(871-873)GCG>GCA p.A291A DRD3_uc010hqn.1_Silent_p.A291A|DRD3_uc003ebb.1_Intron|DRD3_uc003ebc.1_Silent_p.A291A NM_000796 NP_000787 P35462 DRD3_HUMAN dopamine receptor D3 isoform a 291 Cytoplasmic. activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning integral to plasma membrane dopamine D3 receptor activity|drug binding ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246) TGAGCTTGGGCGCTATGGTGG 0.542 NaN 0 0 0 0.008361 0 27 222 RABL3 285282 broad.mit.edu 37 3 120424963 120424963 + Splice_Site SNP T T C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:120424963T>C uc003edx.2 - 4 299 c.269_splice c.e4-1 p.G90_splice NM_173825 NP_776186 Q5HYI8 RABL3_HUMAN RAB, member of RAS oncogene family-like 3 small GTPase mediated signal transduction GTP binding 0 GBM - Glioblastoma multiforme(114;0.151) AAATAATACCTAAAATAATCA 0.373 NaN 0 0 0 0.008291 0 11 38 EAF2 55840 broad.mit.edu 37 3 121554153 121554153 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:121554153C>T uc003een.2 + 1 120 c.21C>T c.(19-21)TTC>TTT p.F7F IQCB1_uc010hre.1_5'Flank|IQCB1_uc003eek.2_5'Flank|IQCB1_uc010hrf.1_5'Flank|EAF2_uc003eem.2_RNA|EAF2_uc003eeo.2_5'UTR NM_018456 NP_060926 Q96CJ1 EAF2_HUMAN ELL associated factor 2 7 apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck protein binding 0 GBM - Glioblastoma multiforme(114;0.0972) CAGCGGGATTCTCACACCTAG 0.557 NaN 0 0 0 0.004007 0 12 16 SEMA5B 54437 broad.mit.edu 37 3 122658317 122658317 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:122658317C>T uc003efz.1 - 5 733 c.429G>A c.(427-429)AGG>AGA p.R143R SEMA5B_uc011bju.1_Silent_p.R85R|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Silent_p.R143R|SEMA5B_uc010hro.1_Silent_p.R85R|SEMA5B_uc010hrp.1_RNA NM_001031702 NP_001026872 Q9P283 SEM5B_HUMAN semaphorin 5B isoform 1 143 Extracellular (Potential).|Sema. cell differentiation|nervous system development integral to membrane receptor activity ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1) 7 GBM - Glioblastoma multiforme(114;0.0367) AGAGGTAGTTCCTGTGAAAAT 0.537 NaN 0 0 0 0.001984 0 7 36 ROPN1 54763 broad.mit.edu 37 3 123699230 123699230 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:123699230G>A uc003eha.2 - 3 440 c.99C>T c.(97-99)CTC>CTT p.L33L ROPN1_uc003ehb.1_RNA|ROPN1_uc003ehc.1_RNA NM_017578 NP_060048 Q9HAT0 ROP1A_HUMAN ropporin 33 RIIa. signal transduction cAMP-dependent protein kinase regulator activity ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(114;0.148) CCCACTGGATGAGGTCCTGCG 0.597 NaN 0 0 0 0.003954 0 11 25 KLF15 28999 broad.mit.edu 37 3 126071555 126071555 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:126071555C>T uc011bkk.1 - 2 393 c.211G>A c.(211-213)GAG>AAG p.E71K NM_014079 NP_054798 Q9UIH9 KLF15_HUMAN Kruppel-like factor 15 71 nucleus DNA binding|zinc ion binding lung(1) 1 GBM - Glioblastoma multiforme(114;0.147) TCCTGGCTCTCGGTGCCCAGG 0.652 NaN 0 0 0 0.004672 0 3 2 CHCHD6 84303 broad.mit.edu 37 3 126676358 126676358 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:126676358C>T uc003ejf.1 + 7 704 c.666C>T c.(664-666)GTC>GTT p.V222V CHCHD6_uc010hsj.1_Silent_p.V223V NM_032343 NP_115719 Q9BRQ6 CHCH6_HUMAN coiled-coil-helix-coiled-coil-helix domain 222 CHCH. 0 CGGACCTGGTCAAGGCATACC 0.647 NaN 0 0 0 0.001168 0 6 4 PLXND1 23129 broad.mit.edu 37 3 129293326 129293326 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:129293326G>A uc003emx.2 - 12 2638 c.2538C>T c.(2536-2538)GTC>GTT p.V846V NM_015103 NP_055918 Q9Y4D7 PLXD1_HUMAN plexin D1 precursor 846 Extracellular (Potential). axon guidance integral to membrane|intracellular|plasma membrane large_intestine(1) 1 CACAGTTATAGACCATGACTG 0.652 NaN 0 0 0 0.004482 0 9 21 ACPP 55 broad.mit.edu 37 3 132071660 132071660 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:132071660G>A uc010htp.2 + 9 1051 c.961G>A c.(961-963)GAG>AAG p.E321K ACPP_uc003eon.3_Missense_Mutation_p.E288K|ACPP_uc003eop.3_Missense_Mutation_p.E321K NM_001099 NP_001090 P15309 PPAP_HUMAN acid phosphatase, prostate short isoform 321 extracellular region|lysosomal membrane 5'-nucleotidase activity|acid phosphatase activity ovary(1) 1 ATTGTACTTTGAGAAGGGGTA 0.433 NaN 0 0 0 0.00499 0 17 94 DNAJC13 23317 broad.mit.edu 37 3 132169512 132169512 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:132169512C>T uc003eor.2 + 6 423 c.358C>T c.(358-360)CAC>TAC p.H120Y DNAJC13_uc010htq.1_Missense_Mutation_p.H120Y NM_015268 NP_056083 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 120 heat shock protein binding ovary(1)|breast(1) 2 CTATAAGCATCACTGGAGTGA 0.323 NaN 0 0 0 0.01441 0 60 41 CEP70 80321 broad.mit.edu 37 3 138256169 138256169 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:138256169C>T uc003esl.2 - 7 684 c.486G>A c.(484-486)AAG>AAA p.K162K CEP70_uc011bmk.1_Silent_p.K142K|CEP70_uc011bml.1_Silent_p.K144K|CEP70_uc011bmm.1_Silent_p.K10K|CEP70_uc003esm.2_Silent_p.K162K|CEP70_uc003esn.2_Silent_p.K162K NM_024491 NP_077817 Q8NHQ1 CEP70_HUMAN centrosomal protein 70 kDa 162 Potential. G2/M transition of mitotic cell cycle centrosome|cytosol protein binding skin(1) 1 TTCGTTTTTTCTTATAATGCT 0.343 NaN 0 0 0 0.010729 0 11 41 FOXL2 668 broad.mit.edu 37 3 138665349 138665349 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:138665349C>T uc003esw.2 - 1 634 c.216G>A c.(214-216)GAG>GAA p.E72E uc003esv.1_5'Flank|C3orf72_uc003esx.1_5'Flank|C3orf72_uc011bmr.1_5'Flank NM_023067 NP_075555 P58012 FOXL2_HUMAN forkhead box L2 72 Fork-head. convergent extension|DNA fragmentation involved in apoptotic nuclear change|embryonic eye morphogenesis|extraocular skeletal muscle development|female somatic sex determination|induction of apoptosis|menstruation|negative regulation of transcription, DNA-dependent|ovarian follicle development|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding ovary(266)|large_intestine(1)|skin(1) 268 TGAGCCTCTTCTCCGCGCTCT 0.632 NaN Mis granulosa-cell tumour of the ovary Blepharophimosis|ptosis and epicanthus inversus Types I|II; Premature ovarian failure type III 0 0 0 0.012319 0 21 27 RBP1 5947 broad.mit.edu 37 3 139258348 139258348 + Nonsense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:139258348C>T uc003eti.2 - 1 324 c.213G>A c.(211-213)TGG>TGA p.W71* RBP1_uc011bmx.1_Nonsense_Mutation_p.W71*|RBP1_uc010huj.2_RNA|RBP1_uc011bmy.1_Nonsense_Mutation_p.W71* NM_002899 NP_002890 P09455 RET1_HUMAN retinol binding protein 1, cellular isoform a 9 cytoplasm retinal binding|retinol binding|transporter activity 0 Vitamin A(DB00162) CCAACATCTTCCAGTACCCAG 0.682 NaN 0 0 0 0.001984 0 6 10 ACPL2 92370 broad.mit.edu 37 3 141006166 141006166 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:141006166C>T uc003etu.2 + 7 675 c.376C>T c.(376-378)CAC>TAC p.H126Y ACPL2_uc003etv.2_Missense_Mutation_p.H126Y|ACPL2_uc011bna.1_Missense_Mutation_p.H88Y|ACPL2_uc011bnb.1_Missense_Mutation_p.H109Y NM_152282 NP_689495 Q8TE99 ACPL2_HUMAN acid phosphatase-like 2 precursor 126 extracellular region acid phosphatase activity skin(1) 1 GAAACCGTATCACCCAAAACT 0.463 NaN 0 0 0 0.004289 0 36 119 GRK7 131890 broad.mit.edu 37 3 141526645 141526645 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:141526645G>A uc011bnd.1 + 3 1293 c.1209G>A c.(1207-1209)CTG>CTA p.L403L NM_139209 NP_631948 Q8WTQ7 GRK7_HUMAN G-protein-coupled receptor kinase 7 precursor 403 Protein kinase. visual perception membrane ATP binding|G-protein coupled receptor kinase activity|signal transducer activity lung(2)|stomach(1)|ovary(1)|skin(1) 5 AAGAGGATCTGAAGCAAAGAA 0.433 NaN 0 0 0 0.008291 0 10 80 ATP1B3 483 broad.mit.edu 37 3 141626055 141626055 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:141626055C>T uc003eug.1 + 3 459 c.285C>T c.(283-285)TTC>TTT p.F95F ATP1B3_uc011bne.1_RNA|ATP1B3_uc003euh.1_Silent_p.F81F NM_001679 NP_001670 P54709 AT1B3_HUMAN Na+/K+ -ATPase beta 3 subunit 95 Extracellular (Potential). ATP biosynthetic process|blood coagulation|leukocyte migration melanosome|sodium:potassium-exchanging ATPase complex protein binding|sodium:potassium-exchanging ATPase activity 0 AATATACATTCAGTAGGTCTG 0.363 NaN 0 0 0 0.00632 0 28 84 TRPC1 7220 broad.mit.edu 37 3 142509894 142509894 + Missense_Mutation SNP A A G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:142509894A>G uc003evc.2 + 8 1467 c.1331A>G c.(1330-1332)TAT>TGT p.Y444C TRPC1_uc003evb.2_Missense_Mutation_p.Y410C|TRPC1_uc011bni.1_Missense_Mutation_p.Y11C NM_003304 NP_003295 P48995 TRPC1_HUMAN transient receptor potential cation channel, 444 Cytoplasmic (Potential). axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion cytosol|integral to plasma membrane protein binding|store-operated calcium channel activity ovary(2) 2 AGACTCTGGTATGAAGGGTTG 0.328 NaN 0 0 0 0.008871 0 18 68 PLSCR5 389158 broad.mit.edu 37 3 146311816 146311816 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:146311816G>C uc003ewb.2 - 4 1348 c.344C>G c.(343-345)ACT>AGT p.T115S PLSCR5_uc010hvb.2_Missense_Mutation_p.T103S|PLSCR5_uc010hvc.2_Missense_Mutation_p.T115S NM_001085420 NP_001078889 A0PG75 PLS5_HUMAN phospholipid scramblase family, member 5 115 0 AGATCGCAGAGTGGAACAGAA 0.458 NaN 0 0 0 0.00623 0 40 135 RNF13 11342 broad.mit.edu 37 3 149678727 149678727 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:149678727G>A uc003exn.3 + 11 1766 c.982G>A c.(982-984)GAA>AAA p.E328K RNF13_uc003exp.3_Missense_Mutation_p.E328K|RNF13_uc010hvh.2_Missense_Mutation_p.E209K NM_007282 NP_009213 O43567 RNF13_HUMAN ring finger protein 13 328 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) GGCTTTATCGGAATCCCGCTC 0.413 NaN 0 0 0 0.012319 0 23 59 RAP2B 5912 broad.mit.edu 37 3 152880887 152880887 + Silent SNP T T C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:152880887T>C uc003ezr.2 + 1 859 c.405T>C c.(403-405)GCT>GCC p.A135A NM_002886 NP_002877 P61225 RAP2B_HUMAN RAP2B, member of RAS oncogene family precursor 135 Rap protein signal transduction|regulation of protein tyrosine kinase activity recycling endosome membrane GTP binding|GTPase activity lung(2) 2 LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11) AGGCCCTGGCTGAGGAGTGGA 0.632 NaN 0 0 0 0.003163 0 13 20 MME 4311 broad.mit.edu 37 3 154886393 154886393 + Nonsense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:154886393G>A uc010hvr.1 + 19 2104 c.1893G>A c.(1891-1893)TGG>TGA p.W631* MME_uc003fab.1_Nonsense_Mutation_p.W631*|MME_uc003fac.1_Nonsense_Mutation_p.W631*|MME_uc003fad.1_Nonsense_Mutation_p.W631*|MME_uc003fae.1_Nonsense_Mutation_p.W631* NM_007289 NP_009220 P08473 NEP_HUMAN membrane metallo-endopeptidase 631 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) ACTTTTCCTGGGACCTGGCAG 0.408 NaN 0 0 0 0.00632 0 28 107 SLC33A1 9197 broad.mit.edu 37 3 155571662 155571662 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:155571662G>A uc003fan.3 - 1 506 c.125C>T c.(124-126)TCA>TTA p.S42L SLC33A1_uc003fao.1_Missense_Mutation_p.S42L NM_004733 NP_004724 O00400 ACATN_HUMAN acetyl-coenzyme A transporter 42 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) CCGGCCCGCTGAGTCCAAATG 0.602 NaN 0 0 0 0.013537 0 11 47 ARL14 80117 broad.mit.edu 37 3 160395402 160395402 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:160395402G>A uc003fdq.2 + 1 455 c.268G>A c.(268-270)GAC>AAC p.D90N NM_025047 NP_079323 Q8N4G2 ARL14_HUMAN ADP-ribosylation factor-like 14 90 small GTPase mediated signal transduction intracellular GTP binding 0 Lung(72;7.02e-05)|LUSC - Lung squamous cell carcinoma(72;7.23e-05) GTATGTTGTGGACAGTACAGA 0.433 NaN 0 0 0 0.001855 0 12 82 BCHE 590 broad.mit.edu 37 3 165548500 165548500 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:165548500C>G uc003fem.3 - 2 482 c.322G>C c.(322-324)GAG>CAG p.E108Q BCHE_uc003fen.3_Intron NM_000055 NP_000046 P06276 CHLE_HUMAN butyrylcholinesterase precursor 108 choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic endoplasmic reticulum lumen|extracellular space|membrane acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding ovary(3)|pancreas(1) 4 Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116) TTCCACATCTCTGATCCATGG 0.393 NaN 0 0 0 0.01441 0 64 41 ZBBX 79740 broad.mit.edu 37 3 167045793 167045793 + Missense_Mutation SNP T T A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:167045793T>A uc003fep.2 - 11 1122 c.799A>T c.(799-801)AGT>TGT p.S267C ZBBX_uc011bpc.1_Missense_Mutation_p.S267C|ZBBX_uc003feq.2_Missense_Mutation_p.S238C NM_024687 NP_078963 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 267 intracellular zinc ion binding ovary(2) 2 CTCCATTGACTTAACACTTCC 0.348 NaN 0 0 0 0.01441 0 49 178 SLC2A2 6514 broad.mit.edu 37 3 170725017 170725017 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:170725017C>T uc003fhe.1 - 5 841 c.532G>A c.(532-534)GAA>AAA p.E178K SLC2A2_uc003fhf.1_Missense_Mutation_p.E5K|SLC2A2_uc011bpu.1_Missense_Mutation_p.E51K NM_000340 NP_000331 P11168 GTR2_HUMAN solute carrier family 2 (facilitated glucose 178 Helical; Name=4; (Potential). carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion integral to plasma membrane|membrane fraction D-glucose transmembrane transporter activity ovary(1)|central_nervous_system(1) 2 all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14) GGAGCAATTTCACCGATATAC 0.428 NaN 0 0 0 0.008361 0 30 28 TNIK 23043 broad.mit.edu 37 3 170786662 170786662 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:170786662G>A uc003fhh.2 - 30 4019 c.3674C>T c.(3673-3675)TCT>TTT p.S1225F TNIK_uc003fhi.2_Missense_Mutation_p.S1170F|TNIK_uc003fhj.2_Missense_Mutation_p.S1196F|TNIK_uc003fhk.2_Missense_Mutation_p.S1217F|TNIK_uc003fhl.2_Missense_Mutation_p.S1141F|TNIK_uc003fhm.2_Missense_Mutation_p.S1162F|TNIK_uc003fhn.2_Missense_Mutation_p.S1188F|TNIK_uc003fho.2_Missense_Mutation_p.S1133F|TNIK_uc003fhg.2_Missense_Mutation_p.S403F|TNIK_uc003fhp.2_Missense_Mutation_p.S157F NM_015028 NP_055843 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase isoform 1 1225 CNH. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity ovary(4)|large_intestine(1) 5 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GATATCATAAGAGTTTCCTGA 0.378 NaN 0 0 0 0.006214 0 10 49 PLD1 5337 broad.mit.edu 37 3 171338225 171338225 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:171338225G>C uc003fhs.2 - 24 2795 c.2679C>G c.(2677-2679)ATC>ATG p.I893M PLD1_uc003fht.2_Missense_Mutation_p.I855M|PLD1_uc003fhu.3_Missense_Mutation_p.I187M NM_002662 NP_002653 Q13393 PLD1_HUMAN phospholipase D1 isoform a 893 Catalytic.|PLD phosphodiesterase 2. cell communication|chemotaxis|Ras protein signal transduction endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity ovary(2)|lung(1) 3 all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) Choline(DB00122) TGTGGACATAGATAAGCTCAG 0.353 NaN 0 0 0 0.006122 0 16 116 FNDC3B 64778 broad.mit.edu 37 3 172061911 172061911 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:172061911G>A uc003fhy.2 + 19 2285 c.2113G>A c.(2113-2115)GAG>AAG p.E705K FNDC3B_uc003fhz.3_Missense_Mutation_p.E705K NM_022763 NP_073600 Q53EP0 FND3B_HUMAN fibronectin type III domain containing 3B 705 Fibronectin type-III 5. endoplasmic reticulum|integral to membrane ovary(2)|breast(1) 3 all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GBM - Glioblastoma multiforme(1;0.0494) TGAGGTCTCAGAGTACAGCGT 0.527 NaN 0 0 0 0.00245 0 12 111 PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A rs104886003 TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 G A G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 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 0.007291 0 29 37 MFN1 55669 broad.mit.edu 37 3 179066706 179066706 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:179066706G>A uc003fjs.2 + 2 193 c.67G>A c.(67-69)GAC>AAC p.D23N MFN1_uc010hxb.2_RNA|MFN1_uc003fjt.2_Missense_Mutation_p.D51N NM_033540 NP_284941 Q8IWA4 MFN1_HUMAN mitofusin 1 23 Cytoplasmic (Potential). mitochondrial fusion integral to membrane|mitochondrial outer membrane GTP binding|GTPase activity ovary(2)|large_intestine(1) 3 all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923) TGCAATCTTTGACCAGTTACT 0.358 NaN 0 0 0 0.006999 0 38 163 LAMP3 27074 broad.mit.edu 37 3 182872117 182872117 + Nonsense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:182872117G>A uc003flh.3 - 2 336 c.112C>T c.(112-114)CAA>TAA p.Q38* NM_014398 NP_055213 Q9UQV4 LAMP3_HUMAN lysosomal-associated membrane protein 3 38 Lumenal (Potential). cell proliferation integral to membrane|lysosomal membrane ovary(2)|central_nervous_system(1) 3 all_cancers(143;9.14e-14)|Ovarian(172;0.0355) all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21) GCAGTAGGTTGAGAATAATCT 0.398 NaN 0 0 0 0.01441 0 57 70 ECE2 9718 broad.mit.edu 37 3 183967552 183967552 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:183967552G>A uc003fni.3 + 1 108 c.70G>A c.(70-72)GAG>AAG p.E24K ALG3_uc003fne.2_5'Flank|ALG3_uc011brc.1_5'Flank|ALG3_uc011brd.1_5'Flank|ALG3_uc011bre.1_5'Flank|ALG3_uc003fnf.1_5'Flank|ALG3_uc011brf.1_5'Flank|ECE2_uc003fnh.3_Missense_Mutation_p.E24K NM_014693 NP_055508 O60344 ECE2_HUMAN endothelin converting enzyme 2 isoform A 24 Cytoplasmic (Potential).|Methyltransferase-like region. brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing cytoplasmic vesicle membrane|Golgi membrane|integral to membrane metal ion binding|metalloendopeptidase activity|methyltransferase activity ovary(2)|skin(2) 4 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CCGCGAAGTCGAGTACTGGGA 0.672 NaN OREG0015944 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.008291 0 10 19 TRA2B 6434 broad.mit.edu 37 3 185643391 185643391 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:185643391C>T uc003fpv.2 - 3 470 c.194G>A c.(193-195)CGA>CAA p.R65Q TRA2B_uc003fpt.2_5'Flank|TRA2B_uc003fpu.2_RNA|TRA2B_uc010hym.2_5'UTR|TRA2B_uc003fpw.2_Missense_Mutation_p.R65Q NM_004593 NP_004584 P62995 TRA2B_HUMAN splicing factor, arginine/serine-rich 10 65 Arg/Ser-rich (RS1 domain). nuclear mRNA splicing, via spliceosome nucleus nucleotide binding|protein binding|RNA binding ovary(2) 2 ATAATGCCTTCGGGAGCTTCT 0.463 NaN 0 0 0 0.003163 0 16 47 FETUB 26998 broad.mit.edu 37 3 186358310 186358310 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:186358310C>T uc010hyq.2 + 2 322 c.61C>T c.(61-63)CCA>TCA p.P21S FETUB_uc011brz.1_Intron|FETUB_uc003fqn.2_Missense_Mutation_p.P21S|FETUB_uc003fqo.2_5'UTR|FETUB_uc010hyr.2_Missense_Mutation_p.P21S|FETUB_uc010hys.2_5'UTR|FETUB_uc003fqp.3_Missense_Mutation_p.P21S NM_014375 NP_055190 Q9UGM5 FETUB_HUMAN fetuin B precursor 21 extracellular space cysteine-type endopeptidase inhibitor activity ovary(1)|lung(1) 2 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0479) AGCAATGTCTCCACCCCAGCT 0.592 NaN 0 0 0 0.01441 0 101 101 MASP1 5648 broad.mit.edu 37 3 186969425 186969425 + Silent SNP C C T rs116595107 by1000genomes TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:186969425C>T uc003frh.1 - 7 1340 c.1008G>A c.(1006-1008)CTG>CTA p.L336L MASP1_uc003fri.2_Silent_p.L336L|MASP1_uc003frj.2_Silent_p.L305L|MASP1_uc003frk.1_Silent_p.L336L|MASP1_uc011bse.1_Silent_p.L310L NM_001879 NP_001870 P48740 MASP1_HUMAN mannan-binding lectin serine protease 1 isoform 336 Sushi 1. complement activation, lectin pathway|negative regulation of complement activation|proteolysis extracellular space calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity ovary(2)|breast(1)|liver(1) 4 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.49e-18) GBM - Glioblastoma multiforme(93;0.0366) TCTGCACCTTCAGCACTTTGT 0.552 NaN 0 0 0 0.01441 0 60 50 TP63 8626 broad.mit.edu 37 3 189349350 189349350 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:189349350G>A uc003fry.2 + 1 135 c.46G>A c.(46-48)GAC>AAC p.D16N TP63_uc003frx.2_Missense_Mutation_p.D16N|TP63_uc003frz.2_Missense_Mutation_p.D16N|TP63_uc010hzc.1_Missense_Mutation_p.D16N NM_003722 NP_003713 Q9H3D4 P63_HUMAN tumor protein p63 isoform 1 16 Transcription activation. anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 12 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) GTACTGCCCTGACCCTTACAT 0.378 NaN Hay-Wells_syndrome HNSCC(45;0.13) 0 0 0 0.007835 0 40 125 HES1 3280 broad.mit.edu 37 3 193854434 193854434 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:193854434G>A uc003ftq.1 + 2 373 c.137G>A c.(136-138)CGA>CAA p.R46Q HES1_uc011bst.1_Missense_Mutation_p.R46Q NM_005524 NP_005515 Q14469 HES1_HUMAN hairy and enhancer of split 1 46 Basic motif. 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) GAGAAAAGACGAAGAGCAAGA 0.408 NaN 0 0 0 0.008291 0 10 14 HES1 3280 broad.mit.edu 37 3 193855629 193855629 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:193855629C>T uc003ftq.1 + 4 686 c.450C>T c.(448-450)ATC>ATT p.I150I NM_005524 NP_005515 Q14469 HES1_HUMAN hairy and enhancer of split 1 150 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) TGACCCAGATCAATGCCATGA 0.716 NaN 0 0 0 0.001168 0 5 18 RNF168 165918 broad.mit.edu 37 3 196214289 196214289 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:196214289C>G uc003fwq.2 - 3 1077 c.539G>C c.(538-540)AGA>ACA p.R180T RNF168_uc010iah.2_Missense_Mutation_p.R13T NM_152617 NP_689830 Q8IYW5 RN168_HUMAN ring finger protein 168 180 MIU motif 1. 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) GCTTAGCTTTCTTGCCAGTTC 0.473 NaN 0 0 0 0.01441 0 90 290 BDH1 622 broad.mit.edu 37 3 197238892 197238892 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:197238892G>A uc003fxr.2 - 8 1308 c.906C>T c.(904-906)GTC>GTT p.V302V BDH1_uc003fxs.2_Silent_p.V302V|BDH1_uc003fxt.2_Silent_p.V215V|BDH1_uc003fxu.2_Silent_p.V302V NM_203314 NP_976059 Q02338 BDH_HUMAN 3-hydroxybutyrate dehydrogenase, type 1 302 cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process mitochondrial matrix 3-hydroxybutyrate dehydrogenase activity ovary(1) 1 all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437) Lung NSC(153;0.118) Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06) GBM - Glioblastoma multiforme(93;0.0977) NADH(DB00157) GGGCGTGTGTGACAGCATCGA 0.572 NaN 0 0 0 0.003954 0 24 72 MFSD7 84179 broad.mit.edu 37 4 676629 676629 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr4:676629C>T uc003gay.2 - 9 1262 c.1205G>A c.(1204-1206)CGA>CAA p.R402Q MFSD7_uc003gaw.2_Missense_Mutation_p.R144Q|MFSD7_uc003gax.2_Missense_Mutation_p.R401Q|MFSD7_uc003gaz.2_Missense_Mutation_p.R283Q|MFSD7_uc003gba.2_Missense_Mutation_p.R305Q|MFSD7_uc003gbb.1_Missense_Mutation_p.R337Q NM_032219 NP_115595 Q6UXD7 MFSD7_HUMAN major facilitator superfamily domain containing 402 transmembrane transport integral to membrane 0 CTCCGAGCGTCGCACAGTCAG 0.652 NaN 0 0 0 0.009096 0 4 6 MFSD7 84179 broad.mit.edu 37 4 678583 678583 + Missense_Mutation SNP C C A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr4:678583C>A uc003gay.2 - 5 705 c.648G>T c.(646-648)GAG>GAT p.E216D MFSD7_uc003gaw.2_5'UTR|MFSD7_uc003gax.2_Missense_Mutation_p.E216D|MFSD7_uc003gaz.2_Missense_Mutation_p.E97D|MFSD7_uc003gba.2_Missense_Mutation_p.E119D|MFSD7_uc003gbb.1_Missense_Mutation_p.E152D NM_032219 NP_115595 Q6UXD7 MFSD7_HUMAN major facilitator superfamily domain containing 216 transmembrane transport integral to membrane 0 GGGGCACACTCTCCCACAGGC 0.657 NaN 1 0 4.96729e-08 0.008871 5.12554e-08 17 9 GAK 2580 broad.mit.edu 37 4 887189 887189 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr4:887189C>T uc003gbm.3 - 9 1165 c.966G>A c.(964-966)GTG>GTA p.V322V GAK_uc003gbn.3_Silent_p.V243V|GAK_uc010ibk.1_Silent_p.V216V|GAK_uc003gbl.3_Silent_p.V186V NM_005255 NP_005246 O14976 GAK_HUMAN cyclin G associated kinase 322 cell cycle focal adhesion|Golgi apparatus|perinuclear region of cytoplasm ATP binding|heat shock protein binding|protein serine/threonine kinase activity lung(2)|central_nervous_system(1)|skin(1) 4 Colorectal(103;0.219) ACTTGGGGTTCACGTTGCGGG 0.662 NaN 0 0 0 0.010729 0 9 17 CRIPAK 285464 broad.mit.edu 37 4 1388306 1388306 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr4:1388306G>A uc003gdf.2 + 1 2967 c.7G>A c.(7-9)GAG>AAG p.E3K NM_175918 NP_787114 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 3 ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding 0 OV - Ovarian serous cystadenocarcinoma(23;0.0106) tcttatGCATGAGCCCTCGCT 0.338 NaN 0 0 0 0.01441 0 81 59 TACC3 10460 broad.mit.edu 37 4 1746259 1746259 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr4:1746259G>A uc003gdo.2 + 14 2346 c.2238G>A c.(2236-2238)CTG>CTA p.L746L TACC3_uc003gdp.2_Silent_p.L386L|TACC3_uc010ica.2_Silent_p.L167L NM_006342 NP_006333 Q9Y6A5 TACC3_HUMAN transforming, acidic coiled-coil containing 746 Potential. centrosome ovary(1)|central_nervous_system(1) 2 Breast(71;0.212)|all_epithelial(65;0.241) OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126) AAGAGTCACTGAAGAAGTGCG 0.607 NaN 0 0 0 0.006214 0 9 55 TNIP2 79155 broad.mit.edu 37 4 2746669 2746669 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr4:2746669C>T uc003gfg.2 - 4 748 c.661G>A c.(661-663)GAA>AAA p.E221K TNIP2_uc003gff.2_Missense_Mutation_p.E114K|TNIP2_uc003gfh.2_Intron NM_024309 NP_077285 Q8NFZ5 TNIP2_HUMAN A20-binding inhibitor of NF-kappaB activation 2 221 Potential. cytosol protein binding central_nervous_system(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) TTGAGGTCTTCAACCTGAAGA 0.582 NaN 0 0 0 0.004482 0 8 35 RGS12 6002 broad.mit.edu 37 4 3344756 3344756 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr4:3344756C>T uc003ggw.2 + 3 2878 c.1974C>T c.(1972-1974)ATC>ATT p.I658I RGS12_uc003ggu.2_Silent_p.I658I|RGS12_uc010ics.1_5'UTR|RGS12_uc011bvr.1_RNA|RGS12_uc003ggv.2_Silent_p.I658I|RGS12_uc003ggy.1_Silent_p.I56I|RGS12_uc003ggx.1_Silent_p.I658I NM_198229 NP_937872 O14924 RGS12_HUMAN regulator of G-protein signalling 12 isoform 1 658 condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) GATTCAGTATCACTCGCTCCC 0.433 NaN 0 0 0 0.004007 0 16 65 RGS12 6002 broad.mit.edu 37 4 3424704 3424704 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr4:3424704C>T uc003ggw.2 + 12 4010 c.3106C>T c.(3106-3108)CGG>TGG p.R1036W RGS12_uc003ggv.2_Missense_Mutation_p.R1036W|RGS12_uc003ggy.1_Missense_Mutation_p.R434W|RGS12_uc003ggz.2_Missense_Mutation_p.R388W|RGS12_uc010icu.1_Missense_Mutation_p.R235W|RGS12_uc011bvs.1_Missense_Mutation_p.R378W|RGS12_uc003gha.2_Missense_Mutation_p.R378W|RGS12_uc010icv.2_Missense_Mutation_p.R235W|RGS12_uc003ghb.2_Missense_Mutation_p.R235W NM_198229 NP_937872 O14924 RGS12_HUMAN regulator of G-protein signalling 12 isoform 1 1036 RBD 2. condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CACCTTGTTTCGGTAAGAGGA 0.582 NaN 0 0 0 0.00308 0 7 35 ZBTB49 166793 broad.mit.edu 37 4 4303908 4303908 + Silent SNP A A T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr4:4303908A>T uc003ghu.2 + 3 520 c.345A>T c.(343-345)ACA>ACT p.T115T ZBTB49_uc003ghv.2_Intron|ZBTB49_uc010icy.2_RNA|ZBTB49_uc010icz.2_5'Flank NM_145291 NP_660334 Q6ZSB9 ZBT49_HUMAN zinc finger protein 509 115 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 TGTGTCACACATTTTTAAAAT 0.418 NaN 0 0 0 0.013114 0 47 143 EVC2 132884 broad.mit.edu 37 4 5567045 5567045 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr4:5567045C>G uc003gij.2 - 21 3653 c.3599G>C c.(3598-3600)CGA>CCA p.R1200P EVC2_uc011bwb.1_Missense_Mutation_p.R640P|EVC2_uc003gik.2_Missense_Mutation_p.R1120P NM_147127 NP_667338 Q86UK5 LBN_HUMAN limbin 1200 integral to membrane large_intestine(3)|ovary(2) 5 CAGATCTCCTCGCAGTTTGCC 0.493 NaN 0 0 0 0.004482 0 7 107 EVC2 132884 broad.mit.edu 37 4 5578040 5578040 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr4:5578040C>T uc003gij.2 - 18 3253 c.3199G>A c.(3199-3201)GAA>AAA p.E1067K EVC2_uc011bwb.1_Missense_Mutation_p.E507K|EVC2_uc003gik.2_Missense_Mutation_p.E987K NM_147127 NP_667338 Q86UK5 LBN_HUMAN limbin 1067 Potential. integral to membrane large_intestine(3)|ovary(2) 5 ACCTGCCTTTCAGAATCCACC 0.617 NaN 0 0 0 0.010818 0 30 100 CRMP1 1400 broad.mit.edu 37 4 5838496 5838496 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr4:5838496G>A uc003gip.2 - 11 1207 c.1106C>T c.(1105-1107)GCG>GTG p.A369V CRMP1_uc003gin.1_Missense_Mutation_p.A281V|CRMP1_uc003giq.2_Missense_Mutation_p.A369V|CRMP1_uc003gir.2_Missense_Mutation_p.A364V|CRMP1_uc003gis.2_Missense_Mutation_p.A483V NM_001313 NP_001304 Q14194 DPYL1_HUMAN collapsin response mediator protein 1 isoform 2 369 Missing (in Ref. 6; AAK55500). axon guidance|pyrimidine base catabolic process cytosol|microtubule organizing center|spindle dihydropyrimidinase activity|protein binding ovary(2) 2 Colorectal(103;0.0721) CCTTACCACCGCCTTGTCCCA 0.547 NaN 0 0 0 0.012213 0 29 65 CCDC96 257236 broad.mit.edu 37 4 7044015 7044015 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr4:7044015C>T uc003gjv.2 - 1 714 c.651G>A c.(649-651)CAG>CAA p.Q217Q TADA2B_uc003gjw.3_5'Flank|TADA2B_uc010idi.2_5'Flank NM_153376 NP_699207 Q2M329 CCD96_HUMAN coiled-coil domain containing 96 217 0 CCTGCAGCTTCTGGACCTCCT 0.582 NaN 0 0 0 0.004289 0 36 22 CCDC96 257236 broad.mit.edu 37 4 7044026 7044026 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr4:7044026C>T uc003gjv.2 - 1 703 c.640G>A c.(640-642)GAG>AAG p.E214K TADA2B_uc003gjw.3_5'Flank|TADA2B_uc010idi.2_5'Flank NM_153376 NP_699207 Q2M329 CCD96_HUMAN coiled-coil domain containing 96 214 Glu-rich. 0 TGGACCTCCTCGGACCACTCG 0.552 NaN 0 0 0 0.009535 0 30 21 SH3TC1 54436 broad.mit.edu 37 4 8237168 8237168 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr4:8237168G>A uc003gkv.3 + 15 3392 c.3291G>A c.(3289-3291)CAG>CAA p.Q1097Q SH3TC1_uc003gkw.3_Silent_p.Q1021Q|SH3TC1_uc003gkx.3_RNA|SH3TC1_uc003gky.2_RNA NM_018986 NP_061859 Q8TE82 S3TC1_HUMAN SH3 domain and tetratricopeptide repeats 1 1097 binding large_intestine(2)|pancreas(1) 3 AGGTGGCACAGAACGTGGCCC 0.647 NaN 0 0 0 0.013726 0 34 32 GPR125 166647 broad.mit.edu 37 4 22456499 22456499 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr4:22456499G>A uc003gqm.1 - 4 728 c.463C>T c.(463-465)CTG>TTG p.L155L GPR125_uc010ieo.1_Silent_p.L29L|GPR125_uc003gqo.2_Silent_p.L155L NM_145290 NP_660333 Q8IWK6 GP125_HUMAN G protein-coupled receptor 125 precursor 155 Extracellular (Potential).|LRR 4. neuropeptide signaling pathway integral to membrane G-protein coupled receptor activity skin(1) 1 Breast(46;0.198) AGCCGAACCAGATTGGTGAGT 0.358 NaN 0 0 0 0.004482 0 9 60 LGI2 55203 broad.mit.edu 37 4 25005688 25005688 + Silent SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr4:25005688G>C uc003grf.2 - 8 1122 c.1023C>G c.(1021-1023)GTC>GTG p.V341V NM_018176 NP_060646 Q8N0V4 LGI2_HUMAN leucine-rich repeat LGI family, member 2 341 EAR 3. extracellular region 0 Breast(46;0.173) TGTCTGCGATGACAAAGAACG 0.468 NaN 0 0 0 0.01441 0 70 54 LGI2 55203 broad.mit.edu 37 4 25005740 25005740 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr4:25005740G>A uc003grf.2 - 8 1070 c.971C>T c.(970-972)TCC>TTC p.S324F NM_018176 NP_060646 Q8N0V4 LGI2_HUMAN leucine-rich repeat LGI family, member 2 324 EAR 3. extracellular region 0 Breast(46;0.173) ATTGGGCTTGGAAATGCGAGA 0.473 NaN 0 0 0 0.01441 0 120 78 SLC34A2 10568 broad.mit.edu 37 4 25664407 25664407 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr4:25664407G>A uc003grr.2 + 3 274 c.193G>A c.(193-195)GAG>AAG p.E65K SLC34A2_uc003grs.2_Missense_Mutation_p.E64K|SLC34A2_uc010iev.2_Missense_Mutation_p.E64K NM_006424 NP_006415 O95436 NPT2B_HUMAN solute carrier family 34 (sodium phosphate), 65 Cytoplasmic (Potential). cellular phosphate ion homeostasis apical plasma membrane|brush border membrane|integral to plasma membrane phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity skin(3)|ovary(1)|kidney(1) 5 Breast(46;0.0503) TGAGCCCACTGAGGTGGATGA 0.517 NaN 0 0 0 0.01441 0 103 64 TBC1D19 55296 broad.mit.edu 37 4 26750122 26750122 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr4:26750122G>A uc003gsf.3 + 19 1679 c.1409G>A c.(1408-1410)GGA>GAA p.G470E TBC1D19_uc010iew.2_Missense_Mutation_p.G470E|TBC1D19_uc011bxu.1_Missense_Mutation_p.G405E NM_018317 NP_060787 Q8N5T2 TBC19_HUMAN TBC1 domain family, member 19 470 Rab-GAP TBC. intracellular Rab GTPase activator activity breast(1) 1 Breast(46;0.0503) AGAATCCTAGGATACAACTCT 0.383 NaN 0 0 0 0.01441 0 65 132 WDR19 57728 broad.mit.edu 37 4 39271675 39271675 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr4:39271675G>C uc003gtv.2 + 31 3592 c.3438G>C c.(3436-3438)GAG>GAC p.E1146D WDR19_uc011byi.1_Missense_Mutation_p.E986D|WDR19_uc003gtw.1_Missense_Mutation_p.E743D NM_025132 NP_079408 Q8NEZ3 WDR19_HUMAN WD repeat domain 19 1146 cell projection organization microtubule basal body|motile cilium|photoreceptor connecting cilium binding large_intestine(1) 1 TTCCCTCCGAGATGGCCACCA 0.463 NaN 0 0 0 0.006122 0 19 58 WDR19 57728 broad.mit.edu 37 4 39278656 39278656 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr4:39278656G>A uc003gtv.2 + 34 3887 c.3733G>A c.(3733-3735)GAG>AAG p.E1245K WDR19_uc011byi.1_Missense_Mutation_p.E1085K NM_025132 NP_079408 Q8NEZ3 WDR19_HUMAN WD repeat domain 19 1245 cell projection organization microtubule basal body|motile cilium|photoreceptor connecting cilium binding large_intestine(1) 1 CGATATATCTGAGATAGAAGA 0.418 NaN 0 0 0 0.013726 0 31 94 KLB 152831 broad.mit.edu 37 4 39448203 39448203 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr4:39448203C>T uc003gua.2 + 4 1954 c.1857C>T c.(1855-1857)GCC>GCT p.A619A KLB_uc011byj.1_Silent_p.A610A NM_175737 NP_783864 Q86Z14 KLOTB_HUMAN klotho beta 619 Extracellular (Potential).|Glycosyl hydrolase-1 2. carbohydrate metabolic process integral to membrane|plasma membrane cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds skin(1) 1 ACCGACAGGCCCTGAGGTACT 0.597 NaN 0 0 0 0.001855 0 13 52 PDS5A 23244 broad.mit.edu 37 4 39978093 39978093 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr4:39978093C>T uc003guv.3 - 2 645 c.105G>A c.(103-105)AAG>AAA p.K35K PDS5A_uc010ifo.2_5'UTR|PDS5A_uc003guw.3_Silent_p.K35K NM_001100399 NP_001093869 Q29RF7 PDS5A_HUMAN PDS5, regulator of cohesion maintenance, homolog 35 cell division|mitosis|negative regulation of DNA replication chromatin|nucleus identical protein binding 0 CCGTGGTGATCTTGTCGGTGA 0.557 NaN OREG0016159 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.01441 0 64 84 N4BP2 55728 broad.mit.edu 37 4 40103906 40103906 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr4:40103906G>A uc003guy.3 + 4 779 c.441G>A c.(439-441)CAG>CAA p.Q147Q N4BP2_uc010ifq.2_Silent_p.Q67Q|N4BP2_uc010ifr.2_Silent_p.Q67Q NM_018177 NP_060647 Q86UW6 N4BP2_HUMAN Nedd4 binding protein 2 147 Potential. cytoplasm ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding lung(3)|breast(2)|kidney(2)|ovary(1) 8 CCTTAATACAGAATGCTTTTG 0.333 NaN 0 0 0 0.004656 0 27 87 N4BP2 55728 broad.mit.edu 37 4 40123254 40123254 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr4:40123254C>T uc003guy.3 + 9 3861 c.3523C>T c.(3523-3525)CCT>TCT p.P1175S N4BP2_uc010ifq.2_Missense_Mutation_p.P1095S|N4BP2_uc010ifr.2_Missense_Mutation_p.P1095S NM_018177 NP_060647 Q86UW6 N4BP2_HUMAN Nedd4 binding protein 2 1175 cytoplasm ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding lung(3)|breast(2)|kidney(2)|ovary(1) 8 TTCTAATTCTCCTGTGCCAGA 0.418 NaN 0 0 0 0.003271 0 36 82 N4BP2 55728 broad.mit.edu 37 4 40144375 40144375 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr4:40144375G>A uc003guy.3 + 15 5206 c.4868G>A c.(4867-4869)AGA>AAA p.R1623K N4BP2_uc010ifq.2_Missense_Mutation_p.R1543K|N4BP2_uc010ifr.2_Missense_Mutation_p.R1526K NM_018177 NP_060647 Q86UW6 N4BP2_HUMAN Nedd4 binding protein 2 1623 cytoplasm ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding lung(3)|breast(2)|kidney(2)|ovary(1) 8 GATGACTACAGAGCAGAGGCT 0.413 NaN 0 0 0 0.007291 0 28 91 RHOH 399 broad.mit.edu 37 4 40245409 40245409 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr4:40245409G>A uc003guz.2 + 3 1127 c.403G>A c.(403-405)GAA>AAA p.E135K NM_004310 NP_004301 Q15669 RHOH_HUMAN ras homolog gene family, member H precursor 135 negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|T cell differentiation cytosol|mitochondrion|plasma membrane GTP binding|GTPase inhibitor activity|kinase inhibitor activity|Rho GTPase binding ovary(1)|lung(1) 2 CAATGCCATGGAAGGGAAGAA 0.612 NaN 0 0 0 0.004007 0 15 41 CHRNA9 55584 broad.mit.edu 37 4 40350954 40350954 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr4:40350954G>A uc003gva.1 + 4 437 c.421G>A c.(421-423)GGG>AGG p.G141R NM_017581 NP_060051 Q9UGM1 ACHA9_HUMAN cholinergic receptor, nicotinic, alpha 9 141 Extracellular (Potential). elevation of cytosolic calcium ion concentration|synaptic transmission cell junction|postsynaptic membrane calcium channel activity|receptor activity breast(3)|skin(3)|central_nervous_system(1) 7 Nicotine(DB00184) GCGGTATGATGGGCTGATCAC 0.507 NaN 0 0 0 0.007291 0 29 117 GABRG1 2565 broad.mit.edu 37 4 46053535 46053535 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr4:46053535G>A uc003gxb.2 - 8 1189 c.1037C>T c.(1036-1038)GCA>GTA p.A346V NM_173536 NP_775807 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid A receptor, gamma 1 346 Helical; (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity ovary(2) 2 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) CATCAAGGCTGCAAAAACAAA 0.373 NaN 0 0 0 0.003163 0 16 43 ATP10D 57205 broad.mit.edu 37 4 47565643 47565643 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr4:47565643C>T uc003gxk.1 + 15 2878 c.2714C>T c.(2713-2715)TCT>TTT p.S905F ATP10D_uc003gxl.1_Missense_Mutation_p.S153F NM_020453 NP_065186 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 905 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 GTCCCTGAATCTATAGAAGCT 0.473 NaN 0 0 0 0.00245 0 15 50 ATP10D 57205 broad.mit.edu 37 4 47578955 47578955 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr4:47578955C>G uc003gxk.1 + 19 3696 c.3532C>G c.(3532-3534)CTG>GTG p.L1178V ATP10D_uc003gxl.1_Missense_Mutation_p.L426V NM_020453 NP_065186 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 1178 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 CCTCATGCAACTGCCTGAACT 0.438 NaN 0 0 0 0.00632 0 29 119 SLAIN2 57606 broad.mit.edu 37 4 48422195 48422195 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr4:48422195C>T uc003gya.3 + 7 1558 c.1414C>T c.(1414-1416)CGG>TGG p.R472W NM_020846 NP_065897 Q9P270 SLAI2_HUMAN SLAIN motif family, member 2 472 centrosome 0 TTTGGCTCTTCGGCAACCAGT 0.478 NaN 0 0 0 0.008291 0 10 39 FRYL 285527 broad.mit.edu 37 4 48525073 48525073 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr4:48525073C>T uc003gyh.1 - 54 7971 c.7366G>A c.(7366-7368)GAC>AAC p.D2456N FRYL_uc003gyf.1_5'Flank|FRYL_uc003gyg.1_Missense_Mutation_p.D1152N|FRYL_uc003gyi.1_Missense_Mutation_p.D1344N|FRYL_uc003gyj.1_Missense_Mutation_p.D751N NM_015030 NP_055845 O94915 FRYL_HUMAN furry-like 2456 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding skin(1) 1 TCAATACTGTCCAGTGAGCGC 0.483 NaN 0 0 0 0.007835 0 40 55 FRYL 285527 broad.mit.edu 37 4 48605373 48605373 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr4:48605373C>T uc003gyh.1 - 12 1472 c.867G>A c.(865-867)TTG>TTA p.L289L FRYL_uc003gyk.2_Silent_p.L289L NM_015030 NP_055845 O94915 FRYL_HUMAN furry-like 289 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding skin(1) 1 CAAAATTTTTCAAACAGGGAA 0.289 NaN 0 0 0 0.006999 0 41 63 KIT 3815 broad.mit.edu 37 4 55524236 55524236 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr4:55524236C>T uc010igr.2 + 1 142 c.55C>T c.(55-57)CGC>TGC p.R19C KIT_uc010igs.2_Missense_Mutation_p.R19C NM_000222 NP_000213 P10721 KIT_HUMAN v-kit Hardy-Zuckerman 4 feline sarcoma viral 19 male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway extracellular space|integral to membrane ATP binding|protein binding|receptor signaling protein tyrosine kinase activity soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1) 5118 all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209) Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171) Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) CCTACTGCTTCGCGTCCAGAC 0.667 1 Mis|O GIST|AML|TGCT|mastocytosis|mucosal melanoma GIST|epithelioma Piebald trait Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors 0 0 0 0.013537 0 11 17 LPHN3 23284 broad.mit.edu 37 4 62813849 62813849 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr4:62813849C>T uc010ihh.2 + 14 2629 c.2456C>T c.(2455-2457)TCA>TTA p.S819L LPHN3_uc003hcq.3_Missense_Mutation_p.S819L|LPHN3_uc003hct.2_Missense_Mutation_p.S212L NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN latrophilin 3 precursor 806 GPS.|Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1) 18 CCTAACTGTTCATTTTGGAGC 0.383 NaN 0 0 0 0.00308 0 7 26 TMPRSS11A 339967 broad.mit.edu 37 4 68784859 68784859 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr4:68784859C>T uc003hdr.1 - 8 914 c.793G>A c.(793-795)GAG>AAG p.E265K LOC550112_uc003hdl.3_Intron|TMPRSS11A_uc003hds.1_Missense_Mutation_p.E262K NM_182606 NP_872412 Q6ZMR5 TM11A_HUMAN transmembrane protease, serine 11A isoform 1 265 Peptidase S1.|Extracellular (Potential). cell cycle|proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity skin(1) 1 CGGTACTTCTCATGGATAATA 0.408 NaN 0 0 0 0.01441 0 60 74 AFM 173 broad.mit.edu 37 4 74350018 74350018 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr4:74350018G>A uc003hhb.2 + 3 212 c.181G>A c.(181-183)GAA>AAA p.E61K NM_001133 NP_001124 P43652 AFAM_HUMAN afamin precursor 61 Albumin 1. vitamin transport vitamin E binding ovary(2)|central_nervous_system(1) 3 Breast(15;0.00102) Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) AGCAACCTTTGAAGAAATGGA 0.403 NaN 0 0 0 0.00333 0 25 69 RCHY1 25898 broad.mit.edu 37 4 76434446 76434446 + Nonsense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr4:76434446G>A uc003hik.2 - 2 283 c.151C>T c.(151-153)CAA>TAA p.Q51* RCHY1_uc003hij.2_Nonsense_Mutation_p.Q51*|RCHY1_uc003hil.2_Nonsense_Mutation_p.Q51*|RCHY1_uc010iip.2_Nonsense_Mutation_p.Q51*|RCHY1_uc010iiq.2_RNA|RCHY1_uc010iir.2_Intron NM_015436 NP_056251 Q96PM5 ZN363_HUMAN ring finger and CHY zinc finger domain 51 CHY-type. positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein autoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nuclear speck|ubiquitin ligase complex electron carrier activity|p53 binding|protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding pancreas(1) 1 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) CGATCTAGTTGATGATCTTCA 0.348 NaN 0 0 0 0.008361 0 29 15 PPEF2 5470 broad.mit.edu 37 4 76781894 76781894 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr4:76781894C>T uc003hix.2 - 17 2545 c.2188G>A c.(2188-2190)GAG>AAG p.E730K PPEF2_uc003hiy.2_RNA NM_006239 NP_006230 O14830 PPE2_HUMAN serine/threonine protein phosphatase with 730 detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception cytoplasm|photoreceptor inner segment|photoreceptor outer segment calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity ovary(2)|lung(1)|central_nervous_system(1) 4 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) GCATCGCCCTCTGGGCAGGAT 0.507 NaN 0 0 0 0.00278 0 24 48 PPEF2 5470 broad.mit.edu 37 4 76782018 76782018 + Missense_Mutation SNP C C T rs148045586 TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr4:76782018C>T uc003hix.2 - 17 2421 c.2064G>A c.(2062-2064)ATG>ATA p.M688I PPEF2_uc003hiy.2_RNA NM_006239 NP_006230 O14830 PPE2_HUMAN serine/threonine protein phosphatase with 688 detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception cytoplasm|photoreceptor inner segment|photoreceptor outer segment calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity ovary(2)|lung(1)|central_nervous_system(1) 4 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) TGTCGATATTCATGTGAGAGC 0.453 NaN 0 0 0 0.00333 0 25 84 SDAD1 55153 broad.mit.edu 37 4 76895235 76895235 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr4:76895235G>A uc003hje.3 - 7 749 c.630C>T c.(628-630)GTC>GTT p.V210V SDAD1_uc003hjf.3_Silent_p.V113V|SDAD1_uc011cbr.1_Silent_p.V173V NM_018115 NP_060585 Q9NVU7 SDA1_HUMAN SDA1 domain containing 1 210 protein transport|ribosomal large subunit biogenesis nucleolus protein binding ovary(1) 1 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) TCACCTTGGTGACCTTAGAGA 0.418 NaN 0 0 0 0.00333 0 24 65 SCARB2 950 broad.mit.edu 37 4 77100813 77100813 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr4:77100813C>T uc003hju.1 - 4 808 c.469G>A c.(469-471)GAG>AAG p.E157K SCARB2_uc011cbu.1_Intron NM_005506 NP_005497 Q14108 SCRB2_HUMAN scavenger receptor class B, member 2 157 Lumenal (Potential). cell adhesion|protein targeting to lysosome integral to plasma membrane|lysosomal lumen|lysosomal membrane|membrane fraction enzyme binding|receptor activity 0 Lung(101;0.196) AACATGGCCTCGATGATCTCC 0.498 NaN OREG0016231 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.01441 0 136 113 SHROOM3 57619 broad.mit.edu 37 4 77660886 77660886 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr4:77660886G>A uc011cbx.1 + 5 2513 c.1560G>A c.(1558-1560)CAG>CAA p.Q520Q SHROOM3_uc011cbz.1_Silent_p.Q344Q|SHROOM3_uc003hkf.1_Silent_p.Q395Q|SHROOM3_uc003hkg.2_Silent_p.Q298Q NM_020859 NP_065910 Q8TF72 SHRM3_HUMAN shroom family member 3 protein 520 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding skin(2)|ovary(1) 3 Lung(101;0.0903) ATGGGAACCAGAATGGATCTG 0.532 NaN 0 0 0 0.01441 0 64 48 PRDM8 56978 broad.mit.edu 37 4 81123465 81123465 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr4:81123465C>T uc010ijo.2 + 8 1688 c.849C>T c.(847-849)CTC>CTT p.L283L PRDM8_uc003hmb.3_Silent_p.L283L|PRDM8_uc003hmc.3_Silent_p.L283L NM_020226 NP_064611 Q9NQV8 PRDM8_HUMAN PR domain containing 8 283 Gly-rich.|Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 CCCAGAGCCTCAgcagcggta 0.562 NaN OREG0016246 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.009096 0 4 8 TMEM150C 441027 broad.mit.edu 37 4 83406710 83406710 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr4:83406710G>A uc003hmy.1 - 8 782 c.704C>T c.(703-705)TCA>TTA p.S235L TMEM150C_uc011ccj.1_Missense_Mutation_p.S265L NM_001080506 NP_001073975 B9EJG8 T150C_HUMAN transmembrane protein 150C 235 integral to membrane ovary(1) 1 CAGGCTTTCTGAGAAGCTTAG 0.493 NaN 0 0 0 0.004482 0 9 12 WDFY3 23001 broad.mit.edu 37 4 85672802 85672802 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr4:85672802C>G uc003hpd.2 - 36 6215 c.5807G>C c.(5806-5808)GGG>GCG p.G1936A NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 isoform 1936 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) CCTGTTCATCCCTGTGTCTGC 0.443 NaN 0 0 0 0.007291 0 28 142 PTPN13 5783 broad.mit.edu 37 4 87653921 87653921 + Splice_Site SNP T T C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr4:87653921T>C uc003hpz.2 + 12 2338 c.1858_splice c.e12+2 p.D620_splice PTPN13_uc003hpy.2_Splice_Site_p.D620_splice|PTPN13_uc003hqa.2_Splice_Site_p.D620_splice|PTPN13_uc003hqb.2_Splice_Site_p.D620_splice NM_080683 NP_542414 Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 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) CCCTCAAAGGTACCAAGACAT 0.358 NaN 0 0 0 0.00245 0 15 19 BMPR1B 658 broad.mit.edu 37 4 96051059 96051059 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr4:96051059G>A uc003htm.3 + 9 906 c.632G>A c.(631-633)GGA>GAA p.G211E BMPR1B_uc010ilb.2_Missense_Mutation_p.G211E|BMPR1B_uc003htn.3_Missense_Mutation_p.G211E NM_001203 NP_001194 O00238 BMR1B_HUMAN bone morphogenetic protein receptor, type IB 211 ATP (By similarity).|Cytoplasmic (Potential).|Protein kinase. BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation receptor complex ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity lung(4)|skin(2)|stomach(1)|breast(1) 8 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.51e-07) AAACAGATTGGAAAAGGTCGC 0.458 NaN 0 0 0 0.003163 0 14 27 UNC5C 8633 broad.mit.edu 37 4 96199421 96199421 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr4:96199421G>A uc003htp.1 - 4 737 c.583C>T c.(583-585)CCA>TCA p.P195S UNC5C_uc010ilc.1_Missense_Mutation_p.P195S|UNC5C_uc003htq.2_Missense_Mutation_p.P195S NM_003728 NP_003719 O95185 UNC5C_HUMAN unc5C precursor 195 Extracellular (Potential).|Ig-like C2-type. apoptosis|axon guidance|brain development integral to membrane netrin receptor activity ovary(3)|pancreas(1) 4 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) TCAGCCACTGGGATCCCTTCA 0.453 NaN 0 0 0 0.00245 0 14 52 DAPP1 27071 broad.mit.edu 37 4 100756843 100756843 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr4:100756843C>T uc003hvf.3 + 2 255 c.165C>T c.(163-165)GAC>GAT p.D55D DAPP1_uc011cek.1_Silent_p.D55D|DAPP1_uc010ilh.2_Silent_p.D55D NM_014395 NP_055210 Q9UN19 DAPP1_HUMAN dual adaptor of phosphotyrosine and 55 SH2. signal transduction cytoplasm|plasma membrane phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein tyrosine phosphatase activity 0 OV - Ovarian serous cystadenocarcinoma(123;7.04e-09) ATGGATGTGACGGCAGCTACC 0.547 NaN 0 0 0 0.013114 0 48 65 UBE2D3 7323 broad.mit.edu 37 4 103723730 103723730 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr4:103723730G>C uc003hwk.2 - 5 647 c.186C>G c.(184-186)TTC>TTG p.F62L UBE2D3_uc003hwi.2_Missense_Mutation_p.F62L|UBE2D3_uc003hwj.2_RNA|UBE2D3_uc003hwl.2_Missense_Mutation_p.F62L|UBE2D3_uc011cet.1_Missense_Mutation_p.F62L|UBE2D3_uc011ceu.1_Missense_Mutation_p.F62L|UBE2D3_uc003hwo.2_Missense_Mutation_p.F62L|UBE2D3_uc003hwp.2_Missense_Mutation_p.F62L|UBE2D3_uc003hwq.2_Missense_Mutation_p.F64L|UBE2D3_uc003hwr.2_Missense_Mutation_p.F62L NM_181887 NP_871616 P61077 UB2D3_HUMAN ubiquitin-conjugating enzyme E2D 3 isoform 1 62 apoptosis|BMP signaling pathway|DNA repair|negative regulation of type I interferon production|proteasomal ubiquitin-dependent protein catabolic process|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein monoubiquitination|transforming growth factor beta receptor signaling pathway endosome membrane|plasma membrane ATP binding|protein binding|ubiquitin-protein ligase activity 0 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.13e-08) TAGGTGGTTTGAAGGGGTAGT 0.343 NaN 0 0 0 0.01441 0 50 70 TBCK 93627 broad.mit.edu 37 4 107154786 107154786 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr4:107154786C>T uc010ilv.2 - 16 1836 c.1471G>A c.(1471-1473)GAT>AAT p.D491N TBCK_uc003hyb.2_Missense_Mutation_p.D234N|TBCK_uc003hye.2_Missense_Mutation_p.D452N|TBCK_uc003hyc.2_Missense_Mutation_p.D428N|TBCK_uc003hyd.2_Missense_Mutation_p.D319N|TBCK_uc003hyf.2_Missense_Mutation_p.D491N NM_001163435 NP_001156907 Q8TEA7 TBCK_HUMAN TBC domain-containing protein kinase-like 491 Rab-GAP TBC. intracellular Rab GTPase activator activity large_intestine(2)|upper_aerodigestive_tract(1)|stomach(1)|ovary(1) 5 TCAATTGCATCGTACTTGGCA 0.269 NaN 0 0 0 0.008871 0 17 21 DKK2 27123 broad.mit.edu 37 4 107956627 107956627 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr4:107956627G>A uc003hyi.2 - 1 827 c.122C>T c.(121-123)TCT>TTT p.S41F DKK2_uc010ilw.1_Intron|DKK2_uc003hyj.1_Missense_Mutation_p.S41F NM_014421 NP_055236 Q9UBU2 DKK2_HUMAN dickkopf homolog 2 precursor 41 multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway extracellular space ovary(3)|lung(1)|skin(1) 5 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.34e-06) CCCGCCCAGAGAGGACTTGAT 0.612 NaN 0 0 0 0.01441 0 41 18 SEC24B 10427 broad.mit.edu 37 4 110384687 110384687 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr4:110384687C>T uc003hzk.2 + 2 819 c.764C>T c.(763-765)TCA>TTA p.S255L SEC24B_uc003hzl.2_Missense_Mutation_p.S255L|SEC24B_uc011cfp.1_Missense_Mutation_p.S286L|SEC24B_uc011cfq.1_Missense_Mutation_p.S255L|SEC24B_uc011cfr.1_Missense_Mutation_p.S255L NM_006323 NP_006314 O95487 SC24B_HUMAN SEC24 (S. cerevisiae) homolog B isoform a 255 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 protein binding|transporter activity|zinc ion binding ovary(2)|large_intestine(1) 3 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;3.03e-05) CAAAGTCTTTCAGGATACAGT 0.473 NaN 0 0 0 0.01441 0 76 13 SEC24B 10427 broad.mit.edu 37 4 110460768 110460768 + Silent SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr4:110460768G>C uc003hzk.2 + 24 3799 c.3744G>C c.(3742-3744)CGG>CGC p.R1248R SEC24B_uc003hzl.2_Silent_p.R1213R|SEC24B_uc011cfp.1_Silent_p.R1278R|SEC24B_uc011cfq.1_Silent_p.R1247R|SEC24B_uc011cfr.1_Silent_p.R1212R NM_006323 NP_006314 O95487 SC24B_HUMAN SEC24 (S. cerevisiae) homolog B isoform a 1248 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 protein binding|transporter activity|zinc ion binding ovary(2)|large_intestine(1) 3 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;3.03e-05) TTGAAGACCGGACAGAGGCTG 0.328 NaN 0 0 0 0.010771 0 44 24 CFI 3426 broad.mit.edu 37 4 110682771 110682771 + Missense_Mutation SNP C C T rs143366614 TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr4:110682771C>T uc003hzr.3 - 4 768 c.560G>A c.(559-561)CGA>CAA p.R187Q CFI_uc003hzq.2_5'UTR|CFI_uc011cft.1_Missense_Mutation_p.R187Q|CFI_uc003hzs.3_Missense_Mutation_p.R187Q NM_000204 NP_000195 P05156 CFAI_HUMAN complement factor I preproprotein 187 SRCR. complement activation, classical pathway|innate immune response|proteolysis extracellular space|membrane scavenger receptor activity|serine-type endopeptidase activity 0 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000331) CTCTAATCCTCGGCAATGCAC 0.388 NaN 0 0 0 0.01441 0 111 23 ANK2 287 broad.mit.edu 37 4 114232546 114232546 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr4:114232546G>A uc003ibe.3 + 24 2784 c.2684G>A c.(2683-2685)CGA>CAA p.R895Q ANK2_uc003ibd.3_Missense_Mutation_p.R874Q|ANK2_uc003ibf.3_Missense_Mutation_p.R895Q|ANK2_uc011cgc.1_Missense_Mutation_p.R104Q|ANK2_uc003ibc.2_Missense_Mutation_p.R871Q|ANK2_uc011cgb.1_Missense_Mutation_p.R910Q NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 895 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) GAGGGAGGACGATCTGACAGG 0.388 NaN 0 0 0 0.006214 0 9 37 PDE5A 8654 broad.mit.edu 37 4 120549792 120549792 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr4:120549792C>T uc003idh.2 - 1 190 c.35G>A c.(34-36)CGA>CAA p.R12Q PDE5A_uc003idf.2_5'Flank|PDE5A_uc003idg.2_5'Flank|uc003idj.1_5'UTR NM_001083 NP_001074 O76074 PDE5A_HUMAN phosphodiesterase 5A isoform 1 12 Poly-Gln. platelet activation|signal transduction cytosol 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding 0 Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862) ctgctgctgtcgctgctgcCC 0.483 NaN OREG0016307 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.003954 0 24 9 NAA15 80155 broad.mit.edu 37 4 140291390 140291390 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr4:140291390G>C uc003ihu.1 + 15 2035 c.1779G>C c.(1777-1779)AAG>AAC p.K593N NM_057175 NP_476516 Q9BXJ9 NAA15_HUMAN NMDA receptor regulated 1 593 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 AAGAGCTAAAGAAGCTACGTA 0.219 NaN 0 0 0 0.010504 0 18 2 ZNF330 27309 broad.mit.edu 37 4 142155060 142155060 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr4:142155060G>A uc003iiq.3 + 10 1100 c.880G>A c.(880-882)GAG>AAG p.E294K ZNF330_uc011chl.1_Missense_Mutation_p.E234K NM_014487 NP_055302 Q9Y3S2 ZN330_HUMAN zinc finger protein 330 294 chromosome, centromeric region|midbody|nucleolus protein binding|zinc ion binding 0 all_hematologic(180;0.162) TTCAGATACTGAGTCATCAGA 0.313 NaN 0 0 0 0.010504 0 20 43 USP38 84640 broad.mit.edu 37 4 144109040 144109040 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr4:144109040G>C uc003ijb.2 + 2 1278 c.744G>C c.(742-744)ATG>ATC p.M248I USP38_uc003ija.3_Missense_Mutation_p.M248I|USP38_uc003ijc.2_RNA NM_032557 NP_115946 Q8NB14 UBP38_HUMAN ubiquitin specific peptidase 38 248 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(2)|ovary(1)|breast(1)|pancreas(1) 5 all_hematologic(180;0.158) CTCTTCAGATGATTACAGTTC 0.398 NaN 0 0 0 0.006122 0 19 45 HHIP 64399 broad.mit.edu 37 4 145567932 145567932 + Missense_Mutation SNP G G T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr4:145567932G>T uc003ijs.1 + 1 760 c.105G>T c.(103-105)AGG>AGT p.R35S uc003ijq.1_5'Flank|HHIP_uc003ijr.1_Missense_Mutation_p.R35S NM_022475 NP_071920 Q96QV1 HHIP_HUMAN hedgehog-interacting protein precursor 35 Arg-rich. cytoplasm|extracellular region catalytic activity|protein binding|zinc ion binding ovary(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 6 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0185) GCGGAGCAAGGAGGAGAAGGT 0.562 NaN 1 0 2.4624e-09 0.008871 2.55543e-09 21 64 OTUD4 54726 broad.mit.edu 37 4 146067481 146067481 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr4:146067481C>T uc003ika.3 - 14 1303 c.1165G>A c.(1165-1167)GAA>AAA p.E389K OTUD4_uc003ijz.3_Missense_Mutation_p.E388K NM_001102653 NP_001096123 Q01804 OTUD4_HUMAN OTU domain containing 4 protein isoform 3 453 protein binding ovary(2)|breast(1) 3 all_hematologic(180;0.151) CGGGATTCTTCTATAGCTTGC 0.408 NaN 0 0 0 0.01441 0 67 57 FBXW7 55294 broad.mit.edu 37 4 153247165 153247165 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 G A G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr4:153247165G>A uc003ims.2 - 10 1786 c.1637C>T c.(1636-1638)TCA>TTA p.S546L FBXW7_uc011cii.1_Missense_Mutation_p.S546L|FBXW7_uc003imt.2_Missense_Mutation_p.S546L|FBXW7_uc011cih.1_Missense_Mutation_p.S370L|FBXW7_uc003imq.2_Missense_Mutation_p.S466L|FBXW7_uc003imr.2_Missense_Mutation_p.S428L NM_033632 NP_361014 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7 isoform 546 WD 5. interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex protein binding|protein binding haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1) 308 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) TACCTGTAATGAATAGACTCT 0.398 NaN Mis|N|D|F colorectal|endometrial|T-ALL 0 0 0 0.01441 0 86 27 KIAA0922 23240 broad.mit.edu 37 4 154525365 154525365 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr4:154525365C>T uc003inm.3 + 25 3250 c.3198C>T c.(3196-3198)TTC>TTT p.F1066F KIAA0922_uc010ipp.2_Silent_p.F1067F|KIAA0922_uc010ipq.2_Silent_p.F835F NM_015196 NP_056011 A2VDJ0 T131L_HUMAN hypothetical protein LOC23240 isoform 2 1066 Cytoplasmic (Potential). integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 all_hematologic(180;0.093) Renal(120;0.118) CAATTGTTTTCAGTAATCCTT 0.358 NaN 0 0 0 0.00278 0 25 54 KIAA0922 23240 broad.mit.edu 37 4 154542885 154542885 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr4:154542885C>G uc003inm.3 + 28 3792 c.3740C>G c.(3739-3741)TCT>TGT p.S1247C KIAA0922_uc010ipp.2_Missense_Mutation_p.S1248C|KIAA0922_uc010ipq.2_Missense_Mutation_p.S1016C NM_015196 NP_056011 A2VDJ0 T131L_HUMAN hypothetical protein LOC23240 isoform 2 1247 Cytoplasmic (Potential). integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 all_hematologic(180;0.093) Renal(120;0.118) TTTGAGAGGTCTGAGCTGAGC 0.428 NaN 0 0 0 0.012319 0 21 40 NAF1 92345 broad.mit.edu 37 4 164087539 164087539 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr4:164087539G>A uc003iqj.2 - 1 535 c.341C>T c.(340-342)TCG>TTG p.S114L NAF1_uc010iqw.1_Missense_Mutation_p.S114L|NAF1_uc003iqk.2_RNA NM_138386 NP_612395 Q96HR8 NAF1_HUMAN nuclear assembly factor 1 homolog isoform a 114 Ser-rich. rRNA processing|snRNA pseudouridine synthesis cytoplasm|nucleus|small nucleolar ribonucleoprotein complex protein binding|snoRNA binding ovary(2) 2 all_hematologic(180;0.166) Prostate(90;0.109) ATCCGAGTCCGAGGTCTCCAA 0.706 NaN 0 0 0 0.013537 0 12 10 DDX60L 91351 broad.mit.edu 37 4 169351708 169351708 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr4:169351708G>A uc003irq.3 - 13 1819 c.1598C>T c.(1597-1599)TCA>TTA p.S533L DDX60L_uc003irr.1_Missense_Mutation_p.S533L|DDX60L_uc003irs.1_Missense_Mutation_p.S260L NM_001012967 NP_001012985 Q5H9U9 DDX6L_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like 533 ATP binding|ATP-dependent helicase activity|RNA binding ovary(1) 1 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.175) CGTAGAGATTGATTCTAACGA 0.373 NaN 0 0 0 0.000602 0 5 14 SLC9A3 6550 broad.mit.edu 37 5 475147 475147 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr5:475147C>T uc003jbe.2 - 16 2464 c.2352G>A c.(2350-2352)TCG>TCA p.S784S SLC9A3_uc011clx.1_Silent_p.S775S|LOC25845_uc003jbd.2_5'Flank|LOC25845_uc010itb.1_5'Flank NM_004174 NP_004165 P48764 SL9A3_HUMAN solute carrier family 9 (sodium/hydrogen 784 Cytoplasmic (Potential). cell surface|integral to membrane sodium:hydrogen antiporter activity 0 Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) GGGCCCTCTGCGAGGGGACCA 0.672 NaN 0 0 0 0.00308 0 7 11 SLC12A7 10723 broad.mit.edu 37 5 1081816 1081816 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr5:1081816C>T uc003jbu.2 - 9 1239 c.1173G>A c.(1171-1173)GAG>GAA p.E391E NM_006598 NP_006589 Q9Y666 S12A7_HUMAN solute carrier family 12 (potassium/chloride 391 potassium ion transport|sodium ion transport integral to plasma membrane potassium:chloride symporter activity skin(2)|large_intestine(1)|ovary(1) 4 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09) Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165) Potassium Chloride(DB00761) CACCTTTCTTCTCCACAAACG 0.652 NaN 0 0 0 0.008291 0 10 35 SLC12A7 10723 broad.mit.edu 37 5 1081819 1081819 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr5:1081819C>T uc003jbu.2 - 9 1236 c.1170G>A c.(1168-1170)GTG>GTA p.V390V NM_006598 NP_006589 Q9Y666 S12A7_HUMAN solute carrier family 12 (potassium/chloride 390 potassium ion transport|sodium ion transport integral to plasma membrane potassium:chloride symporter activity skin(2)|large_intestine(1)|ovary(1) 4 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09) Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165) Potassium Chloride(DB00761) CTTTCTTCTCCACAAACGCCC 0.652 NaN 0 0 0 0.006214 0 9 35 SLC6A18 348932 broad.mit.edu 37 5 1239598 1239598 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr5:1239598G>A uc003jby.1 + 6 889 c.766G>A c.(766-768)GAC>AAC p.D256N NM_182632 NP_872438 Q96N87 S6A18_HUMAN solute carrier family 6, member 18 256 Helical; Name=6; (Potential). cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity ovary(1) 1 all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10) Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) GGTGTGGCTGGACGCAGCCAC 0.577 NaN 0 0 0 0.01441 0 60 62 SLC6A3 6531 broad.mit.edu 37 5 1420746 1420746 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr5:1420746C>T uc003jck.2 - 6 986 c.865G>A c.(865-867)GGA>AGA p.G289R NM_001044 NP_001035 Q01959 SC6A3_HUMAN solute carrier family 6 (neurotransmitter 289 cell death|neurotransmitter biosynthetic process axon|cytoplasm|integral to plasma membrane|neuronal cell body ovary(3)|breast(2)|pancreas(1) 6 OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262) Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721) TCTATGGCTCCAGGGAGGGTG 0.597 NaN 0 0 0 0.007413 0 19 77 NSUN2 54888 broad.mit.edu 37 5 6604332 6604332 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr5:6604332C>T uc003jdu.2 - 17 1941 c.1876G>A c.(1876-1878)GAT>AAT p.D626N NSUN2_uc003jds.2_Missense_Mutation_p.D72N|NSUN2_uc003jdt.2_Missense_Mutation_p.D390N|NSUN2_uc011cmk.1_Missense_Mutation_p.D591N|NSUN2_uc003jdv.2_Missense_Mutation_p.D390N NM_017755 NP_060225 Q08J23 NSUN2_HUMAN NOL1/NOP2/Sun domain family, member 2 626 cytoplasm|nucleolus tRNA (cytosine-5-)-methyltransferase activity|tRNA binding ovary(1) 1 ATCTTAACATCTTCCATTGAT 0.363 NaN 0 0 0 0.003954 0 27 56 MTRR 4552 broad.mit.edu 37 5 7870910 7870910 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr5:7870910G>A uc003jed.2 + 2 114 c.84G>A c.(82-84)ATG>ATA p.M28I FASTKD3_uc011cmp.1_5'Flank|FASTKD3_uc003jeb.2_5'Flank|FASTKD3_uc003jec.2_5'Flank|MTRR_uc010itn.1_RNA|MTRR_uc003jee.3_Missense_Mutation_p.M1I|MTRR_uc003jef.3_RNA|MTRR_uc003jeg.3_RNA|MTRR_uc010ito.2_RNA NM_024010 NP_076915 Q9UBK8 MTRR_HUMAN methionine synthase reductase isoform 2 28 methionine biosynthetic process cytosol [methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding ovary(1) 1 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134) TTGAAGTGATGAGGAGGTTTC 0.403 NaN 0 0 0 0.01441 0 56 52 SEMA5A 9037 broad.mit.edu 37 5 9202334 9202334 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr5:9202334G>A uc003jek.2 - 9 1377 c.665C>T c.(664-666)TCT>TTT p.S222F NM_003966 NP_003957 Q13591 SEM5A_HUMAN semaphorin 5A precursor 222 Sema.|Extracellular (Potential). cell adhesion|cell-cell signaling integral to membrane|plasma membrane ovary(1)|central_nervous_system(1) 2 GATGTCATAAGATGACACAAA 0.418 NaN 0 0 0 0.003163 0 15 29 FAM134B 54463 broad.mit.edu 37 5 16475032 16475032 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr5:16475032G>C uc003jfs.2 - 9 1350 c.1312C>G c.(1312-1314)CAG>GAG p.Q438E FAM134B_uc003jfr.2_Missense_Mutation_p.Q297E NM_001034850 NP_001030022 Q9H6L5 F134B_HUMAN hypothetical protein LOC54463 isoform 1 438 sensory perception of pain cis-Golgi network|endoplasmic reticulum|integral to membrane ovary(2)|breast(1) 3 GGGGCAGCCTGAGAAAGTGCT 0.498 NaN 0 0 0 0.007413 0 18 55 MYO10 4651 broad.mit.edu 37 5 16680071 16680071 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr5:16680071C>T uc003jft.3 - 33 4995 c.4527G>A c.(4525-4527)CTG>CTA p.L1509L MYO10_uc011cnb.1_Silent_p.L138L|MYO10_uc011cnc.1_Silent_p.L388L|MYO10_uc011cnd.1_Silent_p.L866L|MYO10_uc011cne.1_Silent_p.L866L|MYO10_uc010itx.2_Silent_p.L1131L NM_012334 NP_036466 Q9HD67 MYO10_HUMAN myosin X 1509 axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity ovary(2)|pancreas(1) 3 TATCTTGAATCAGCTGCTGGG 0.537 NaN 0 0 0 0.001168 0 5 21 PRDM9 56979 broad.mit.edu 37 5 23522739 23522739 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr5:23522739G>C uc003jgo.2 + 8 809 c.627G>C c.(625-627)CAG>CAC p.Q209H NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 209 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 AGATGTGTCAGAACTTCTTCA 0.488 NaN HNSCC(3;0.000094) 0 0 0 0.006214 0 9 24 CDH6 1004 broad.mit.edu 37 5 31302360 31302360 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr5:31302360C>T uc003jhe.1 + 6 1280 c.954C>T c.(952-954)GTC>GTT p.V318V CDH6_uc003jhd.1_Silent_p.V318V NM_004932 NP_004923 P55285 CADH6_HUMAN cadherin 6, type 2 preproprotein 318 Cadherin 3.|Extracellular (Potential). 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 TGTTTGATGTCATCACCGACC 0.453 NaN 0 0 0 0.008291 0 11 47 ADAMTS12 81792 broad.mit.edu 37 5 33641932 33641932 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr5:33641932C>T uc003jia.1 - 11 1864 c.1701G>A c.(1699-1701)AGG>AGA p.R567R ADAMTS12_uc010iuq.1_Silent_p.R567R NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 567 TSP type-1 1. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 TGTTGCAGAGCCTCTCTGCGC 0.592 NaN HNSCC(64;0.19) 0 0 0 0.010504 0 19 54 CAPSL 133690 broad.mit.edu 37 5 35921175 35921175 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr5:35921175C>G uc003jjt.1 - 2 143 c.48G>C c.(46-48)AAG>AAC p.K16N CAPSL_uc003jju.1_Missense_Mutation_p.K16N NM_001042625 NP_001036090 Q8WWF8 CAPSL_HUMAN calcyphosine-like 16 cytoplasm calcium ion binding skin(1) 1 all_lung(31;0.000268) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202) TGAGCTTTTTCTTGGCCTGGA 0.612 NaN 0 0 0 0.001855 0 14 35 EGFLAM 133584 broad.mit.edu 37 5 38464063 38464063 + Missense_Mutation SNP A A C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr5:38464063A>C uc003jlc.1 + 23 3353 c.3029A>C c.(3028-3030)AAC>ACC p.N1010T EGFLAM_uc003jlb.1_Missense_Mutation_p.N1002T|EGFLAM_uc003jle.1_Missense_Mutation_p.N768T|EGFLAM_uc003jlf.1_Missense_Mutation_p.N368T|EGFLAM_uc003jlg.1_Missense_Mutation_p.N145T|EGFLAM_uc003jlh.1_Missense_Mutation_p.N92T NM_152403 NP_689616 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G 1010 Laminin G-like 3. cell junction|proteinaceous extracellular matrix|synapse pancreas(3)|skin(3)|ovary(1) 7 all_lung(31;0.000385) GATGGGAAAAACATCAACACT 0.532 NaN 0 0 0 0.006214 0 10 24 OSMR 9180 broad.mit.edu 37 5 38904542 38904542 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr5:38904542G>C uc003jln.1 + 9 1589 c.1222G>C c.(1222-1224)GAT>CAT p.D408H NM_003999 NP_003990 Q99650 OSMR_HUMAN oncostatin M receptor precursor 408 Fibronectin type-III 1.|Extracellular (Potential). cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 all_lung(31;0.000365) ACGGTGTGCTGATGCCAGCCA 0.478 NaN 0 0 0 0.00499 0 16 55 RICTOR 253260 broad.mit.edu 37 5 38945050 38945050 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr5:38945050G>A uc003jlp.2 - 35 4778 c.4754C>T c.(4753-4755)TCA>TTA p.S1585L RICTOR_uc003jlo.2_Missense_Mutation_p.S1609L|RICTOR_uc010ivf.2_Missense_Mutation_p.S1262L NM_152756 NP_689969 Q6R327 RICTR_HUMAN rapamycin-insensitive companion of mTOR 1585 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) GCTGCTAGCTGAGCCTTCTTG 0.403 NaN 0 0 0 0.00874 0 40 124 CARD6 84674 broad.mit.edu 37 5 40853853 40853853 + Missense_Mutation SNP C C T rs34452222 TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr5:40853853C>T uc003jmg.2 + 3 2494 c.2419C>T c.(2419-2421)CGG>TGG p.R807W NM_032587 NP_115976 Q9BX69 CARD6_HUMAN caspase recruitment domain family, member 6 807 apoptosis|regulation of apoptosis intracellular ovary(2)|skin(2)|lung(1) 5 CAGAGTTGCTCGGGGATGTCA 0.473 NaN 0 0 0 0.01441 0 87 300 HEATR7B2 133558 broad.mit.edu 37 5 40998246 40998246 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr5:40998246G>A uc003jmj.3 - 42 5156 c.4666C>T c.(4666-4668)CGT>TGT p.R1556C HEATR7B2_uc003jmi.3_Missense_Mutation_p.R1111C NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 1556 binding ovary(6)|central_nervous_system(2) 8 GGATCTTGACGAAGTGCTTGG 0.483 NaN 0 0 0 0.01441 0 58 159 HEATR7B2 133558 broad.mit.edu 37 5 41009477 41009477 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr5:41009477C>T uc003jmj.3 - 32 3815 c.3325G>A c.(3325-3327)GAA>AAA p.E1109K HEATR7B2_uc003jmi.3_Missense_Mutation_p.E664K NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 1109 binding ovary(6)|central_nervous_system(2) 8 GCTGGCTTTTCAGCCAGCGCC 0.498 NaN 0 0 0 0.008361 0 15 55 HEATR7B2 133558 broad.mit.edu 37 5 41009499 41009499 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr5:41009499C>T uc003jmj.3 - 32 3793 c.3303G>A c.(3301-3303)AAG>AAA p.K1101K HEATR7B2_uc003jmi.3_Silent_p.K656K NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 1101 binding ovary(6)|central_nervous_system(2) 8 TCCACAATGTCTTTGTGTCCC 0.473 NaN 0 0 0 0.00278 0 23 76 PELO 53918 broad.mit.edu 37 5 52096666 52096666 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr5:52096666C>T uc003jos.2 + 2 1423 c.438C>T c.(436-438)CTC>CTT p.L146L ITGA1_uc003jov.2_Intron|ITGA1_uc003jou.2_Intron|PELO_uc003jot.1_Intron NM_015946 NP_057030 Q9BRX2 PELO_HUMAN pelota homolog 146 cell cycle|cell division|translation cytoplasm|nucleus endonuclease activity|metal ion binding|protein binding 0 Lung NSC(810;4.94e-05)|Breast(144;0.0848) AGGAAGGCCTCGCCCATATCT 0.582 NaN 0 0 0 0.009096 0 4 16 SNX18 112574 broad.mit.edu 37 5 53815651 53815651 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr5:53815651G>A uc003jpj.3 + 1 2059 c.1869G>A c.(1867-1869)ATG>ATA p.M623I SNX18_uc011cqg.1_Intron|SNX18_uc003jpi.3_Intron NM_052870 NP_443102 Q96RF0 SNX18_HUMAN sorting nexin 18 isoform b 623 BAR. cell communication|endocytosis|positive regulation of GTPase activity|protein transport endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane phosphatidylinositol binding|protein binding 0 Lung NSC(810;3.46e-05)|Breast(144;0.102) TACCTTTGATGACAGTGCTAT 0.413 NaN 0 0 0 0.003163 0 15 44 DHX29 54505 broad.mit.edu 37 5 54573026 54573026 + Missense_Mutation SNP G G T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr5:54573026G>T uc003jpx.2 - 13 2314 c.2194C>A c.(2194-2196)CTA>ATA p.L732I DHX29_uc010ivw.2_RNA NM_019030 NP_061903 Q7Z478 DHX29_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 29 732 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|translation initiation factor activity ovary(2)|central_nervous_system(1)|skin(1) 4 Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183) GCACTCATTAGAATCAAGTGT 0.368 NaN 1 0 1.08611e-07 0.010729 1.12018e-07 11 67 CWC27 10283 broad.mit.edu 37 5 64267618 64267618 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr5:64267618G>A uc003jtn.1 + 12 1350 c.1131G>A c.(1129-1131)AAG>AAA p.K377K CWC27_uc010iwt.1_Silent_p.K377K NM_005869 NP_005860 Q6UX04 CWC27_HUMAN serologically defined colon cancer antigen 10 377 Potential. protein folding catalytic step 2 spliceosome peptidyl-prolyl cis-trans isomerase activity 0 AGTCAAAGAAGGGAACTTCCC 0.383 NaN 0 0 0 0.010729 0 11 40 PIK3R1 5295 broad.mit.edu 37 5 67593263 67593263 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 G A G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr5:67593263G>A uc003jva.2 + 16 2569 c.2009G>A c.(2008-2010)TGT>TAT p.C670Y PIK3R1_uc003jvb.2_Missense_Mutation_p.C670Y|PIK3R1_uc003jvc.2_Missense_Mutation_p.C370Y|PIK3R1_uc003jvd.2_Missense_Mutation_p.C400Y|PIK3R1_uc003jve.2_Missense_Mutation_p.C349Y NM_181523 NP_852664 P27986 P85A_HUMAN phosphoinositide-3-kinase, regulatory subunit 1 670 SH2 2. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.?(1) endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1) 101 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) GTAAAGCATTGTGTCATAAAC 0.433 NaN Mis|F|O gliobastoma|ovarian|colorectal TCGA GBM(4;<1E-08) 0 0 0 0.00623 0 40 114 ENC1 8507 broad.mit.edu 37 5 73932241 73932241 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr5:73932241G>A uc003kdc.3 - 2 1201 c.70C>T c.(70-72)CAC>TAC p.H24Y ENC1_uc011css.1_Intron NM_003633 NP_003624 O14682 ENC1_HUMAN ectodermal-neural cortex (with BTB-like domain) 24 nervous system development cytoplasm|cytoskeleton|nuclear matrix actin binding ovary(1)|pancreas(1)|skin(1) 3 all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;1.45e-59) GAGGACTTGTGAAACAGATAG 0.473 NaN 0 0 0 0.00245 0 13 30 FAM169A 26049 broad.mit.edu 37 5 74101053 74101053 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr5:74101053C>T uc003kdm.2 - 7 770 c.727G>A c.(727-729)GAA>AAA p.E243K FAM169A_uc010izm.2_Missense_Mutation_p.E183K|FAM169A_uc003kdl.2_Missense_Mutation_p.E61K NM_015566 NP_056381 Q9Y6X4 F169A_HUMAN hypothetical protein LOC26049 243 0 CCAACACCTTCAACTTCCCAA 0.383 NaN 0 0 0 0.014323 0 24 67 VCAN 1462 broad.mit.edu 37 5 82815228 82815228 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr5:82815228C>G uc003kii.3 + 7 1459 c.1103C>G c.(1102-1104)TCC>TGC p.S368C VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.S368C|VCAN_uc003kik.3_Intron NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 368 GAG-alpha (glucosaminoglycan attachment domain). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding ovary(7)|skin(6)|lung(2)|central_nervous_system(1) 16 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) CCCAGTTTATCCAAAGAACCA 0.388 NaN 0 0 0 0.010771 0 42 89 CCNH 902 broad.mit.edu 37 5 86700760 86700760 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr5:86700760C>T uc003kjb.2 - 5 822 c.590G>A c.(589-591)AGA>AAA p.R197K CCNH_uc003kiy.1_Intron|CCNH_uc003kiz.1_Missense_Mutation_p.R144K|CCNH_uc003kja.2_Missense_Mutation_p.R144K NM_001239 NP_001230 P51946 CCNH_HUMAN cyclin H 197 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|protein phosphorylation|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 cyclin-dependent protein kinase activating kinase holoenzyme complex|holo TFIIH complex protein kinase binding ovary(2)|kidney(1) 3 all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423) OV - Ovarian serous cystadenocarcinoma(54;9.01e-39)|Epithelial(54;5.08e-33)|all cancers(79;4.28e-28) CAATGCAATTCTATTAAGAAA 0.408 NaN Direct_reversal_of_damage|NER 0 0 0 0.004007 0 17 37 CCNH 902 broad.mit.edu 37 5 86703827 86703827 + Missense_Mutation SNP T T G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr5:86703827T>G uc003kjb.2 - 4 723 c.491A>C c.(490-492)TAC>TCC p.Y164S CCNH_uc003kiy.1_RNA|CCNH_uc003kiz.1_Missense_Mutation_p.Y111S|CCNH_uc003kja.2_Missense_Mutation_p.Y111S NM_001239 NP_001230 P51946 CCNH_HUMAN cyclin H 164 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|protein phosphorylation|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 cyclin-dependent protein kinase activating kinase holoenzyme complex|holo TFIIH complex protein kinase binding ovary(2)|kidney(1) 3 all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423) OV - Ovarian serous cystadenocarcinoma(54;9.01e-39)|Epithelial(54;5.08e-33)|all cancers(79;4.28e-28) AAATGGTCTGTAAGGATTGTG 0.363 NaN Direct_reversal_of_damage|NER 0 0 0 0.00632 0 27 48 FAM172A 83989 broad.mit.edu 37 5 92956830 92956830 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr5:92956830C>T uc010jbd.2 - 11 1321 c.1114G>A c.(1114-1116)GAC>AAC p.D372N FAM172A_uc011cuf.1_Missense_Mutation_p.D326N|FAM172A_uc011cug.1_Missense_Mutation_p.D262N|FAM172A_uc011cuh.1_Missense_Mutation_p.D225N|FAM172A_uc011cui.1_RNA|FAM172A_uc011cuj.1_Silent_p.P101P|MIR2277_hsa-mir-2277|MI0011284_5'Flank NM_032042 NP_114431 Q8WUF8 F172A_HUMAN hypothetical protein LOC83989 isoform 1 372 endoplasmic reticulum|extracellular region 0 TCGTGACGGTCGGTGCCTGCA 0.607 NaN 0 0 0 0.00308 0 8 20 MAN2A1 4124 broad.mit.edu 37 5 109202634 109202634 + Nonsense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr5:109202634C>T uc003kou.1 + 22 4333 c.3370C>T c.(3370-3372)CAG>TAG p.Q1124* NM_002372 NP_002363 Q16706 MA2A1_HUMAN mannosidase, alpha, class 2A, member 1 1124 Lumenal (Potential). mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141) TCCCGGCACTCAGAATATAAG 0.388 NaN 0 0 0 0.010818 0 33 77 APC 324 broad.mit.edu 37 5 112111406 112111406 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 G C G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr5:112111406G>C uc010jby.2 + 5 883 c.503G>C c.(502-504)AGA>ACA p.R168T APC_uc011cvt.1_Missense_Mutation_p.R178T|APC_uc003kpz.3_Missense_Mutation_p.R168T|APC_uc003kpy.3_Missense_Mutation_p.R168T|APC_uc010jbz.2_5'UTR NM_001127511 NP_001120983 P25054 APC_HUMAN adenomatous polyposis coli 168 Leu-rich.|Potential. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1) 2515 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) CTCACTAAAAGAATAGATAGT 0.289 12 D|Mis|N|F|S colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome TSP Lung(16;0.13) 0 0 0 0.007291 0 29 57 MCC 4163 broad.mit.edu 37 5 112418687 112418687 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr5:112418687C>T uc003kqj.3 - 9 1614 c.1084G>A c.(1084-1086)GAA>AAA p.E362K MCC_uc003kqk.3_RNA|MCC_uc003kql.3_Missense_Mutation_p.E552K|MCC_uc011cwb.1_Missense_Mutation_p.E362K|MCC_uc010jcd.1_Missense_Mutation_p.E324K NM_002387 NP_002378 P23508 CRCM_HUMAN mutated in colorectal cancers isoform 2 362 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane protein binding|receptor activity ovary(1) 1 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) GCCAGGTGTTCAGCCACACTG 0.423 NaN 0 0 0 0.008871 0 20 47 MCC 4163 broad.mit.edu 37 5 112458513 112458513 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr5:112458513C>T uc003kqj.3 - 4 855 c.325G>A c.(325-327)GAG>AAG p.E109K MCC_uc003kqk.3_RNA|MCC_uc003kql.3_Missense_Mutation_p.E299K|MCC_uc011cwb.1_Missense_Mutation_p.E109K|MCC_uc010jcd.1_Missense_Mutation_p.E71K NM_002387 NP_002378 P23508 CRCM_HUMAN mutated in colorectal cancers isoform 2 109 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane protein binding|receptor activity ovary(1) 1 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) TCTGAGTACTCATCTTCCTCC 0.463 NaN 0 0 0 0.00245 0 14 28 FEM1C 56929 broad.mit.edu 37 5 114878661 114878661 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr5:114878661C>G uc003krb.1 - 2 1092 c.530G>C c.(529-531)AGA>ACA p.R177T NM_020177 NP_064562 Q96JP0 FEM1C_HUMAN feminization 1 homolog a 177 ANK 5. cytoplasm breast(2)|ovary(1) 3 all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195) OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05) GACACTTTTTCTATTAACATC 0.363 NaN 0 0 0 0.005443 0 27 83 FEM1C 56929 broad.mit.edu 37 5 114879143 114879143 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr5:114879143G>A uc003krb.1 - 2 610 c.48C>T c.(46-48)CTC>CTT p.L16L NM_020177 NP_064562 Q96JP0 FEM1C_HUMAN feminization 1 homolog a 16 ANK 1. cytoplasm breast(2)|ovary(1) 3 all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195) OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05) TGAGAAGCCGGAGTTTGCCAT 0.468 NaN 0 0 0 0.008361 0 31 30 DMXL1 1657 broad.mit.edu 37 5 118533494 118533494 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr5:118533494C>T uc003ksd.2 + 32 7769 c.7588C>T c.(7588-7590)CTT>TTT p.L2530F DMXL1_uc010jcl.1_Missense_Mutation_p.L2530F NM_005509 NP_005500 Q9Y485 DMXL1_HUMAN Dmx-like 1 2530 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) TCTAAAAACTCTTCAATGTTG 0.403 NaN 0 0 0 0.008361 0 29 100 DMXL1 1657 broad.mit.edu 37 5 118533569 118533569 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr5:118533569C>T uc003ksd.2 + 32 7844 c.7663C>T c.(7663-7665)CAT>TAT p.H2555Y DMXL1_uc010jcl.1_Missense_Mutation_p.H2555Y NM_005509 NP_005500 Q9Y485 DMXL1_HUMAN Dmx-like 1 2555 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) TATCGCAAGTCATACCGCCGA 0.428 NaN 0 0 0 0.009535 0 30 117 SNCAIP 9627 broad.mit.edu 37 5 121758693 121758693 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr5:121758693G>A uc003ksw.1 + 4 467 c.261G>A c.(259-261)GAG>GAA p.E87E SNCAIP_uc011cwl.1_Intron|SNCAIP_uc010jct.2_Silent_p.E87E|SNCAIP_uc003ksx.1_Silent_p.E134E|SNCAIP_uc003ksy.1_Intron|SNCAIP_uc003ksz.1_Intron|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Intron|SNCAIP_uc003kta.1_Intron|SNCAIP_uc010jcv.1_RNA|SNCAIP_uc010jcw.1_Intron|SNCAIP_uc010jcx.1_Silent_p.E87E NM_005460 NP_005451 Q9Y6H5 SNCAP_HUMAN synuclein alpha interacting protein 87 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding ovary(1)|pancreas(1) 2 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) ATCAGCCAGAGACTCTGGAGA 0.507 NaN 0 0 0 0.00499 0 17 35 ZNF608 57507 broad.mit.edu 37 5 124036770 124036770 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr5:124036770C>G uc003ktq.1 - 2 1222 c.1099G>C c.(1099-1101)GGG>CGG p.G367R ZNF608_uc003ktr.1_RNA|ZNF608_uc003kts.1_Missense_Mutation_p.G367R|ZNF608_uc003ktt.1_Missense_Mutation_p.G367R NM_020747 NP_065798 Q9ULD9 ZN608_HUMAN zinc finger protein 608 367 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) TCACAGGGCCCAAGACACTCT 0.453 NaN 0 0 0 0.004007 0 15 66 ZNF608 57507 broad.mit.edu 37 5 124036909 124036909 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr5:124036909G>A uc003ktq.1 - 2 1083 c.960C>T c.(958-960)CTC>CTT p.L320L ZNF608_uc003ktr.1_RNA|ZNF608_uc003kts.1_Silent_p.L320L|ZNF608_uc003ktt.1_Silent_p.L320L NM_020747 NP_065798 Q9ULD9 ZN608_HUMAN zinc finger protein 608 320 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) TCTGAGGCGTGAGACTGCTGG 0.512 NaN 0 0 0 0.010504 0 14 50 ZNF608 57507 broad.mit.edu 37 5 124080028 124080028 + Nonsense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr5:124080028G>A uc003ktq.1 - 1 778 c.655C>T c.(655-657)CAG>TAG p.Q219* ZNF608_uc003ktr.1_RNA|ZNF608_uc003kts.1_Nonsense_Mutation_p.Q219*|ZNF608_uc003ktt.1_Nonsense_Mutation_p.Q219* NM_020747 NP_065798 Q9ULD9 ZN608_HUMAN zinc finger protein 608 219 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) TGGTGGCCCTGAAGCAGGTCG 0.617 NaN 0 0 0 0.01441 0 41 29 FNIP1 96459 broad.mit.edu 37 5 131039796 131039796 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr5:131039796C>G uc003kvs.1 - 10 1220 c.1078G>C c.(1078-1080)GAA>CAA p.E360Q RAPGEF6_uc003kvp.1_Intron|FNIP1_uc003kvt.1_Missense_Mutation_p.E332Q|FNIP1_uc010jdm.1_Missense_Mutation_p.E315Q|FNIP1_uc003kvu.2_Missense_Mutation_p.E360Q NM_133372 NP_588613 Q8TF40 FNIP1_HUMAN folliculin interacting protein 1 isoform 1 360 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) ATGTGGCTTTCAAAGAGAGGA 0.274 NaN 0 0 0 0.00245 0 14 55 LEAP2 116842 broad.mit.edu 37 5 132209663 132209663 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr5:132209663G>C uc003kyc.2 + 2 108 c.79G>C c.(79-81)GAA>CAA p.E27Q LEAP2_uc003kyb.1_Missense_Mutation_p.E27Q NM_052971 NP_443203 Q969E1 LEAP2_HUMAN liver-expressed antimicrobial peptide 2 27 defense response to bacterium extracellular region 0 all_cancers(142;0.145)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CCCAATACCAGAAGTGAGTTC 0.512 NaN 0 0 0 0.003271 0 34 20 FSTL4 23105 broad.mit.edu 37 5 132534795 132534795 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr5:132534795C>T uc003kyn.1 - 16 2739 c.2521G>A c.(2521-2523)GAG>AAG p.E841K FSTL4_uc003kym.1_Missense_Mutation_p.E490K NM_015082 NP_055897 Q6MZW2 FSTL4_HUMAN follistatin-like 4 precursor 841 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) CTTCATACCTCACCCACCCAC 0.557 NaN 0 0 0 0.00308 0 7 21 FSTL4 23105 broad.mit.edu 37 5 132535121 132535121 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr5:132535121G>A uc003kyn.1 - 16 2413 c.2195C>T c.(2194-2196)TCG>TTG p.S732L FSTL4_uc003kym.1_Missense_Mutation_p.S381L NM_015082 NP_055897 Q6MZW2 FSTL4_HUMAN follistatin-like 4 precursor 732 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) TGAGATGCCCGAGTTTATTTG 0.572 NaN 0 0 0 0.004007 0 17 37 C5orf15 56951 broad.mit.edu 37 5 133295697 133295697 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr5:133295697C>T uc003kyo.2 - 2 285 c.154G>A c.(154-156)GAT>AAT p.D52N NM_020199 NP_064584 Q8NC54 KCT2_HUMAN keratinocytes associated transmembrane protein 2 52 Extracellular (Potential). integral to membrane 0 KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02) CTCGGTGAATCAGTCCGTGAT 0.368 NaN 0 0 0 0.010504 0 19 32 TIFAB 497189 broad.mit.edu 37 5 134785161 134785161 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr5:134785161G>C uc003law.3 - 2 670 c.469C>G c.(469-471)CCC>GCC p.P157A C5orf20_uc003lav.2_5'Flank NM_001099221 NP_001092691 Q6ZNK6 TIFAB_HUMAN TIFA-related protein TIFAB 157 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GAACCAGGGGGAGGCTGCCCC 0.582 NaN 0 0 0 0.00499 0 18 68 MATR3 9782 broad.mit.edu 37 5 138661216 138661216 + Nonsense_Mutation SNP G G T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr5:138661216G>T uc003ldu.2 + 16 2663 c.2236G>T c.(2236-2238)GAA>TAA p.E746* MATR3_uc003ldt.2_Nonsense_Mutation_p.E408*|MATR3_uc003ldw.2_Nonsense_Mutation_p.E794*|MATR3_uc003ldx.2_Nonsense_Mutation_p.E746*|MATR3_uc010jfc.2_Nonsense_Mutation_p.E746*|MATR3_uc011czb.1_Nonsense_Mutation_p.E458*|MATR3_uc003ldz.2_Nonsense_Mutation_p.E746*|MATR3_uc003lea.2_Nonsense_Mutation_p.E746*|MATR3_uc003leb.2_Nonsense_Mutation_p.E408*|MATR3_uc003lec.2_Nonsense_Mutation_p.E423* NM_199189 NP_954659 P43243 MATR3_HUMAN matrin 3 746 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) ACCAGGTGCTGAATCTTCTGA 0.408 NaN 1 0 1.33834e-09 0.007413 1.38957e-09 18 55 MATR3 9782 broad.mit.edu 37 5 138665072 138665072 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr5:138665072G>C uc003ldu.2 + 18 2959 c.2532G>C c.(2530-2532)AAG>AAC p.K844N MATR3_uc003ldt.2_Missense_Mutation_p.K506N|MATR3_uc003ldw.2_Missense_Mutation_p.K892N|MATR3_uc003ldx.2_Missense_Mutation_p.K844N|MATR3_uc010jfc.2_3'UTR|MATR3_uc011czb.1_Missense_Mutation_p.K556N|MATR3_uc003ldz.2_Missense_Mutation_p.K844N|MATR3_uc003lea.2_Missense_Mutation_p.K844N|MATR3_uc003leb.2_Missense_Mutation_p.K506N|MATR3_uc003lec.2_Missense_Mutation_p.K521N NM_199189 NP_954659 P43243 MATR3_HUMAN matrin 3 844 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) GCAGACAGAAGAAGGAAACTT 0.289 NaN 0 0 0 0.004007 0 17 88 ANKHD1-EIF4EBP3 404734 broad.mit.edu 37 5 139905595 139905595 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr5:139905595C>T uc003lfs.1 + 26 4631 c.4507C>T c.(4507-4509)CCC>TCC p.P1503S ANKHD1_uc003lfr.2_Missense_Mutation_p.P1503S|ANKHD1_uc003lfu.1_Missense_Mutation_p.P983S|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.P242S|ANKHD1_uc003lfw.2_Missense_Mutation_p.P141S|ANKHD1_uc010jfl.2_5'UTR|ANKHD1-EIF4EBP3_uc003lfx.1_5'Flank NM_020690 NP_065741 Q8IWZ2 Q8IWZ2_HUMAN ANKHD1-EIF4EBP3 protein 1503 cytoplasm|nucleus RNA binding ovary(6) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCAAGAAGTTCCCATAGAACC 0.358 NaN 0 0 0 0.00278 0 24 76 PCDHA9 9752 broad.mit.edu 37 5 140230192 140230192 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr5:140230192C>G uc003lhu.2 + 1 2836 c.2112C>G c.(2110-2112)ATC>ATG p.I704M PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Missense_Mutation_p.I704M NM_031857 NP_114063 Q9Y5H5 PCDA9_HUMAN protocadherin alpha 9 isoform 1 precursor 704 Helical; (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding large_intestine(2)|ovary(2)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCATCGCCATCTGCGCGGTGT 0.662 NaN 0 0 0 0.009535 0 31 31 PCDHAC1 56135 broad.mit.edu 37 5 140308755 140308755 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr5:140308755C>T uc003lih.2 + 1 2454 c.2278C>T c.(2278-2280)CTG>TTG p.L760L PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Silent_p.L760L NM_018898 NP_061721 Q9H158 PCDC1_HUMAN protocadherin alpha subfamily C, 1 isoform 1 760 Cytoplasmic (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding skin(3)|ovary(2) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCGGGCCTCTCTGGGACTTGG 0.463 NaN 0 0 0 0.01441 0 54 66 PCDHB1 29930 broad.mit.edu 37 5 140431478 140431478 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr5:140431478G>A uc003lik.1 + 1 500 c.423G>A c.(421-423)AAG>AAA p.K141K NM_013340 NP_037472 Q9Y5F3 PCDB1_HUMAN protocadherin beta 1 precursor 141 Cadherin 2.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGCTTTTAAAGATTCCGGAGA 0.547 NaN 0 0 0 0.00308 0 8 41 PCDHB4 56131 broad.mit.edu 37 5 140502976 140502976 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr5:140502976G>A uc003lip.1 + 1 1396 c.1396G>A c.(1396-1398)GCC>ACC p.A466T NM_018938 NP_061761 Q9Y5E5 PCDB4_HUMAN protocadherin beta 4 precursor 466 Cadherin 5.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CAACAGCCCCGCCCTGCACAT 0.647 NaN 0 0 0 0.004289 0 26 44 PCDHB11 56125 broad.mit.edu 37 5 140579748 140579748 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr5:140579748C>T uc003liy.2 + 1 401 c.401C>T c.(400-402)TCG>TTG p.S134L PCDHB11_uc011daj.1_Intron NM_018931 NP_061754 Q9Y5F2 PCDBB_HUMAN protocadherin beta 11 precursor 134 Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding skin(3)|ovary(2)|upper_aerodigestive_tract(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCCATCTTCTCGGAAAAACAA 0.428 NaN 0 0 0 0.009718 0 43 151 PCDHGA5 56110 broad.mit.edu 37 5 140744168 140744168 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr5:140744168G>A uc003lju.1 + 1 271 c.271G>A c.(271-273)GAC>AAC p.D91N PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Missense_Mutation_p.D91N NM_018918 NP_061741 Q9Y5G8 PCDG5_HUMAN protocadherin gamma subfamily A, 5 isoform 1 91 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGCAGGATAGACCGGGAGGA 0.542 NaN 0 0 0 0.00278 0 20 33 PCDHGB6 56100 broad.mit.edu 37 5 140788029 140788029 + Missense_Mutation SNP A A C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr5:140788029A>C uc003lkj.1 + 1 260 c.260A>C c.(259-261)AAG>ACG p.K87T 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_uc003lki.1_Missense_Mutation_p.K87T NM_018926 NP_061749 Q9Y5F9 PCDGI_HUMAN protocadherin gamma subfamily B, 6 isoform 1 87 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTACTTGTGAAGAACCGAATA 0.488 NaN 0 0 0 0.00632 0 28 78 YIPF5 81555 broad.mit.edu 37 5 143549462 143549462 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr5:143549462C>T uc003lnk.3 - 2 499 c.58G>A c.(58-60)GAT>AAT p.D20N KCTD16_uc003lnm.1_5'Flank|YIPF5_uc003lnl.3_Missense_Mutation_p.D20N|YIPF5_uc010jgl.2_Intron NM_001024947 NP_001020118 Q969M3 YIPF5_HUMAN Yip1 domain family, member 5 20 Cytoplasmic (Potential). protein transport|vesicle-mediated transport endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi cisterna membrane|integral to membrane ovary(1)|skin(1) 2 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) TGTGACTGATCATCGATGCTG 0.358 NaN 0 0 0 0.01441 0 82 55 GRXCR2 643226 broad.mit.edu 37 5 145252343 145252343 + Silent SNP A A G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr5:145252343A>G uc003lns.1 - 1 189 c.189T>C c.(187-189)GGT>GGC p.G63G NM_001080516 NP_001073985 A6NFK2 GRCR2_HUMAN glutaredoxin, cysteine rich 2 63 0 ACCCATAAACACCATCCATTG 0.498 NaN 0 0 0 0.01441 0 49 83 STK32A 202374 broad.mit.edu 37 5 146763487 146763487 + Missense_Mutation SNP C C A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr5:146763487C>A uc010jgn.1 + 13 1412 c.1132C>A c.(1132-1134)CTA>ATA p.L378I STK32A_uc011dbw.1_Missense_Mutation_p.L378I NM_001112724 NP_001106195 Q8WU08 ST32A_HUMAN serine/threonine kinase 32A isoform 1 378 ATP binding|metal ion binding|protein serine/threonine kinase activity lung(2)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACAACCAAATCTAGCCTTGGA 0.338 NaN 1 0 8.00594e-06 0.007413 8.1909e-06 17 26 GRPEL2 134266 broad.mit.edu 37 5 148730750 148730750 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr5:148730750G>A uc003lqj.2 + 4 709 c.583G>A c.(583-585)GTG>ATG p.V195M GRPEL2_uc011dca.1_3'UTR NM_152407 NP_689620 Q8TAA5 GRPE2_HUMAN GrpE-like 2, mitochondrial precursor 195 protein folding mitochondrial matrix adenyl-nucleotide exchange factor activity|chaperone binding|protein homodimerization activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCTGGCACCGTGGCATTAGT 0.532 NaN 0 0 0 0.01441 0 55 59 SLC36A1 206358 broad.mit.edu 37 5 150847396 150847396 + Silent SNP C C A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr5:150847396C>A uc003luc.2 + 7 850 c.633C>A c.(631-633)ATC>ATA p.I211I GM2A_uc011dcs.1_Intron|SLC36A1_uc003lub.1_Silent_p.I211I|SLC36A1_uc010jhw.1_Silent_p.I211I NM_078483 NP_510968 Q7Z2H8 S36A1_HUMAN solute carrier family 36 member 1 211 Helical; Name=4; (Potential). cellular nitrogen compound metabolic process|ion transport endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity skin(1) 1 Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Glycine(DB00145)|L-Alanine(DB00160) TGGTTTTCATCAGGAACCTCC 0.522 NaN 1 0 2.39187e-15 0.008871 2.51349e-15 18 56 CCNJL 79616 broad.mit.edu 37 5 159682612 159682612 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr5:159682612C>T uc003lyb.1 - 6 1083 c.831G>A c.(829-831)CAG>CAA p.Q277Q CCNJL_uc011dee.1_Silent_p.Q229Q|CCNJL_uc003lyc.1_RNA|CCNJL_uc011def.1_Silent_p.Q229Q NM_024565 NP_078841 Q8IV13 CCNJL_HUMAN cyclin J-like 277 nucleus 0 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TTGAGATCCTCTGCAGGTCTC 0.507 NaN 0 0 0 0.01441 0 76 78 ODZ2 57451 broad.mit.edu 37 5 167655045 167655045 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr5:167655045G>A uc010jjd.2 + 25 5403 c.5403G>A c.(5401-5403)CTG>CTA p.L1801L ODZ2_uc003lzr.3_Silent_p.L1571L|ODZ2_uc003lzt.3_Silent_p.L1174L|ODZ2_uc010jje.2_Silent_p.L1065L NM_001122679 NP_001116151 odz, odd Oz/ten-m homolog 2 ovary(6)|central_nervous_system(4) 10 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) ACATCTCCCTGCCTATGGAGA 0.527 NaN 0 0 0 0.010729 0 10 4 DOCK2 1794 broad.mit.edu 37 5 169122855 169122855 + Nonsense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr5:169122855C>T uc003maf.2 + 10 972 c.892C>T c.(892-894)CAA>TAA p.Q298* DOCK2_uc011der.1_RNA NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 298 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding ovary(5)|pancreas(2) 7 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CTTGATTTGTCAAATAGTCCG 0.473 NaN 0 0 0 0.01441 0 52 45 KCNIP1 30820 broad.mit.edu 37 5 170159845 170159845 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr5:170159845G>A uc003mas.2 + 7 1039 c.510G>A c.(508-510)GGG>GGA p.G170G KCNIP1_uc003map.2_Silent_p.G168G|KCNIP1_uc003mat.2_Silent_p.G159G|KCNIP1_uc010jjp.2_Silent_p.G131G|KCNIP1_uc010jjq.2_Silent_p.G184G NM_001034837 NP_001030009 Q9NZI2 KCIP1_HUMAN Kv channel interacting protein 1 isoform 1 170 detection of calcium ion|signal transduction|synaptic transmission plasma membrane potassium channel activity|voltage-gated ion channel activity skin(2) 2 Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297) Medulloblastoma(196;0.0109)|all_neural(177;0.0177) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ACATGATGGGGAAATACACAT 0.493 NaN 0 0 0 0.010504 0 19 44 STK10 6793 broad.mit.edu 37 5 171517361 171517361 + Silent SNP C C T rs148086376 TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr5:171517361C>T uc003mbo.1 - 10 1860 c.1560G>A c.(1558-1560)CCG>CCA p.P520P NM_005990 NP_005981 O94804 STK10_HUMAN serine/threonine kinase 10 520 ATP binding|protein serine/threonine kinase activity ovary(3)|lung(2)|testis(1)|breast(1)|pancreas(1) 8 Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094) Medulloblastoma(196;0.00868)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TGTACAGTTTCGGGTCCTGGC 0.532 NaN 0 0 0 0.01441 0 44 129 CPLX2 10814 broad.mit.edu 37 5 175306917 175306917 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr5:175306917G>C uc003mde.1 + 5 620 c.274G>C c.(274-276)GGG>CGG p.G92R CPLX2_uc003mdf.1_Missense_Mutation_p.G92R NM_006650 NP_006641 Q6PUV4 CPLX2_HUMAN complexin 2 92 Interaction with the SNARE complex (By similarity). mast cell degranulation|positive regulation of synaptic plasticity|vesicle docking involved in exocytosis cytosol ovary(1) 1 all_cancers(89;0.004)|Renal(175;0.000269)|Lung NSC(126;0.00441)|all_lung(126;0.00747) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) GCCCTGCGAGGGGAGCCTGAC 0.642 NaN 0 0 0 0.001168 0 5 17 HIGD2A 192286 broad.mit.edu 37 5 175816403 175816403 + Nonsense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr5:175816403C>T uc003meg.2 + 2 263 c.226C>T c.(226-228)CAG>TAG p.Q76* NOP16_uc003med.2_5'Flank|NOP16_uc003mee.2_5'Flank|NOP16_uc011dfl.1_5'Flank|NOP16_uc011dfm.1_5'Flank NM_138820 NP_620175 Q9BW72 HIG2A_HUMAN HIG1 hypoxia inducible domain family, member 2A 76 Extracellular (Potential).|HIG1. integral to membrane 0 all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Kidney(146;0.0965) CCAGCGCTCTCAGCTCATGAT 0.637 NaN 0 0 0 0.01441 0 45 69 HK3 3101 broad.mit.edu 37 5 176309065 176309065 + Nonsense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr5:176309065G>C uc003mfa.2 - 16 2209 c.2117C>G c.(2116-2118)TCA>TGA p.S706* HK3_uc003mez.2_Nonsense_Mutation_p.S262* NM_002115 NP_002106 P52790 HXK3_HUMAN hexokinase 3 706 Catalytic. glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1) 7 all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CATGCGGCCTGAGTCCCCAGG 0.617 NaN 0 0 0 0.004007 0 16 23 NSD1 64324 broad.mit.edu 37 5 176562564 176562564 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 G C G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr5:176562564G>C uc003mfr.3 + 2 598 c.460G>C c.(460-462)GAG>CAG p.E154Q NSD1_uc003mft.3_Intron|NSD1_uc003mfs.1_Missense_Mutation_p.E154Q|NSD1_uc011dfx.1_Intron|NSD1_uc003mfp.2_Missense_Mutation_p.E154Q|NSD1_uc003mfq.2_Missense_Mutation_p.E154Q NM_022455 NP_071900 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 154 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding ovary(2)|kidney(1) 3 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) TCTGCACTTTGAGAATTTTAC 0.423 NaN T NUP98 AML Sotos Syndrome Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome HNSCC(47;0.14) 0 0 0 0.010504 0 22 107 NSD1 64324 broad.mit.edu 37 5 176721473 176721473 + Silent SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr5:176721473C>G uc003mfr.3 + 23 7242 c.7104C>G c.(7102-7104)GCC>GCG p.A2368A NSD1_uc003mft.3_Silent_p.A2099A|NSD1_uc011dfx.1_Silent_p.A2016A NM_022455 NP_071900 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 2368 Pro-rich. negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding ovary(2)|kidney(1) 3 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) TAGGTGCTGCCAGCCCAAGGC 0.587 NaN T NUP98 AML Sotos Syndrome Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome HNSCC(47;0.14) 0 0 0 0.010729 0 9 56 GRK6 2870 broad.mit.edu 37 5 176867977 176867977 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr5:176867977C>T uc011dfz.1 + 15 1760 c.1600C>T c.(1600-1602)CCC>TCC p.P534S GRK6_uc003mgq.2_Missense_Mutation_p.P534S|GRK6_uc003mgs.1_Missense_Mutation_p.P504S|uc003mgt.2_Intron NM_002082 NP_002073 P43250 GRK6_HUMAN G protein-coupled receptor kinase 6 isoform B 534 regulation of G-protein coupled receptor protein signaling pathway membrane ATP binding|G-protein coupled receptor kinase activity|signal transducer activity large_intestine(1)|stomach(1)|breast(1) 3 all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TGGCTCAGTTCCCCCAGACCT 0.612 NaN 0 0 0 0.008291 0 11 37 ZFP2 80108 broad.mit.edu 37 5 178359071 178359071 + Nonsense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr5:178359071C>T uc003mjn.1 + 5 1266 c.757C>T c.(757-759)CAA>TAA p.Q253* ZFP2_uc010jky.2_Nonsense_Mutation_p.Q253*|ZFP2_uc010jkx.1_Nonsense_Mutation_p.Q253* NM_030613 NP_085116 Q6ZN57 ZFP2_HUMAN zinc finger protein 2 homolog 253 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111) AGCCTTCAGTCAAAGCATGCA 0.383 NaN 0 0 0 0.008871 0 18 72 ADAMTS2 9509 broad.mit.edu 37 5 178554964 178554964 + Silent SNP G G A rs145016043 by1000genomes TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr5:178554964G>A uc003mjw.2 - 17 2613 c.2613C>T c.(2611-2613)GGC>GGT p.G871G NM_014244 NP_055059 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 871 TSP type-1 2. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) CCTCACCTCCGCCACAGGGCT 0.627 NaN 0 0 0 0.00632 0 27 75 SQSTM1 8878 broad.mit.edu 37 5 179251010 179251010 + Missense_Mutation SNP A A T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr5:179251010A>T uc003mkw.3 + 3 549 c.454A>T c.(454-456)AGC>TGC p.S152C SQSTM1_uc011dgr.1_Missense_Mutation_p.S68C|SQSTM1_uc011dgs.1_Missense_Mutation_p.S68C|SQSTM1_uc003mkv.3_Missense_Mutation_p.S152C|SQSTM1_uc003mkx.2_Missense_Mutation_p.S68C NM_003900 NP_003891 Q13501 SQSTM_HUMAN sequestosome 1 isoform 1 152 ZZ-type.|Interaction with GABRR3 (By similarity). anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process cytosol|late endosome|nucleoplasm protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding SQSTM1/ALK(2) haematopoietic_and_lymphoid_tissue(2)|ovary(1) 3 all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CGACTTGTGTAGCGTCTGCGA 0.627 NaN Paget_Disease_of_Bone 0 0 0 0.007413 0 18 41 GFPT2 9945 broad.mit.edu 37 5 179763570 179763570 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr5:179763570C>T uc003mlw.1 - 3 221 c.123G>A c.(121-123)GCG>GCA p.A41A NM_005110 NP_005101 O94808 GFPT2_HUMAN glutamine-fructose-6-phosphate transaminase 2 41 Glutamine amidotransferase type-2. dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding ovary(1)|skin(1) 2 all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) Medulloblastoma(196;0.0392)|all_neural(177;0.0529) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) L-Glutamine(DB00130) TCCCATCGATCGCCACACCTG 0.478 NaN 0 0 0 0.01441 0 166 125 OR2V2 285659 broad.mit.edu 37 5 180582627 180582627 + Missense_Mutation SNP A A G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr5:180582627A>G uc011dhj.1 + 1 685 c.685A>G c.(685-687)ATG>GTG p.M229V NM_206880 NP_996763 Q96R30 OR2V2_HUMAN olfactory receptor, family 2, subfamily V, 229 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1) 2 all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TGTGCTGCAAATGCACTCTGC 0.527 NaN 0 0 0 0.012213 0 34 158 RIOK1 83732 broad.mit.edu 37 6 7398940 7398940 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:7398940C>G uc003mxn.2 + 5 621 c.447C>G c.(445-447)ATC>ATG p.I149M RIOK1_uc003mxm.1_Missense_Mutation_p.I45M NM_031480 NP_113668 Q9BRS2 RIOK1_HUMAN RIO kinase 1 isoform 1 149 ATP binding|protein serine/threonine kinase activity ovary(2)|stomach(1)|skin(1) 4 Ovarian(93;0.0418) GGTATCGCATCAAAGATAAGG 0.313 NaN 0 0 0 0.00278 0 22 30 DSP 1832 broad.mit.edu 37 6 7583091 7583091 + Nonsense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:7583091C>T uc003mxp.1 + 24 5875 c.5596C>T c.(5596-5598)CAG>TAG p.Q1866* DSP_uc003mxq.1_Nonsense_Mutation_p.Q1267* NM_004415 NP_004406 P15924 DESP_HUMAN desmoplakin isoform I 1866 Central fibrous rod domain.|Potential. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton central_nervous_system(6)|ovary(2)|skin(1) 9 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) TGACCTGAATCAGTGGAAGAC 0.453 NaN 0 0 0 0.012319 0 22 37 SYCP2L 221711 broad.mit.edu 37 6 10907799 10907799 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:10907799C>G uc003mzo.2 + 10 997 c.701C>G c.(700-702)TCT>TGT p.S234C SYCP2L_uc011din.1_Missense_Mutation_p.S75C|SYCP2L_uc010jow.2_5'UTR NM_001040274 NP_001035364 Q5T4T6 SYC2L_HUMAN synaptonemal complex protein 2-like 234 nucleus ovary(1)|skin(1) 2 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) Epithelial(50;0.239) GTTGCTATTTCTGAAGCGCTG 0.348 NaN 0 0 0 0.00623 0 38 45 HIVEP1 3096 broad.mit.edu 37 6 12123091 12123091 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:12123091C>T uc003nac.2 + 4 3242 c.3063C>T c.(3061-3063)ATC>ATT p.I1021I HIVEP1_uc011diq.1_RNA NM_002114 NP_002105 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer 1021 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) CCTCCGGCATCTGGGAACAGA 0.488 NaN 0 0 0 0.00874 0 35 894 KIF13A 63971 broad.mit.edu 37 6 17804706 17804706 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:17804706G>A uc003ncg.3 - 20 2445 c.2340C>T c.(2338-2340)TTC>TTT p.F780F KIF13A_uc003ncf.2_Silent_p.F780F|KIF13A_uc003nch.3_Silent_p.F780F|KIF13A_uc003nci.3_Silent_p.F780F NM_022113 NP_071396 Q9H1H9 KI13A_HUMAN kinesin family member 13A isoform a 780 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) GGGCTTCATAGAAAGGGTCAC 0.423 NaN 0 0 0 0.012319 0 21 6 CDKAL1 54901 broad.mit.edu 37 6 21065357 21065357 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:21065357G>A uc003ndc.1 + 12 1308 c.1134G>A c.(1132-1134)GTG>GTA p.V378V CDKAL1_uc003ndd.1_Silent_p.V378V|CDKAL1_uc003nde.1_Silent_p.V308V|CDKAL1_uc003ndf.1_5'UTR NM_017774 NP_060244 Q5VV42 CDKAL_HUMAN CDK5 regulatory subunit associated protein 378 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) AAGAAACAGTGAAACTTGTTG 0.368 NaN 0 0 0 0.014323 0 22 504 CDKAL1 54901 broad.mit.edu 37 6 21231097 21231097 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:21231097G>A uc003ndc.1 + 16 1741 c.1567G>A c.(1567-1569)GGG>AGG p.G523R CDKAL1_uc003ndd.1_Missense_Mutation_p.G523R|CDKAL1_uc003nde.1_Missense_Mutation_p.G432R|CDKAL1_uc003ndf.1_Missense_Mutation_p.G36R|CDKAL1_uc003ndg.2_RNA NM_017774 NP_060244 Q5VV42 CDKAL_HUMAN CDK5 regulatory subunit associated protein 523 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) AAATGGGCTTGGGAACCAGCT 0.463 NaN 0 0 0 0.010504 0 20 327 HIST1H3C 8352 broad.mit.edu 37 6 26045930 26045930 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:26045930G>A uc003nfv.2 + 1 292 c.292G>A c.(292-294)GAG>AAG p.E98K HIST1H2BB_uc003nfu.2_5'Flank NM_003531 NP_003522 P68431 H31_HUMAN histone cluster 1, H3c 98 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding ovary(1) 1 GGAGGCTTGTGAGGCCTACCT 0.577 NaN 0 0 0 0.00245 0 15 27 HIST1H2BD 3017 broad.mit.edu 37 6 26158404 26158404 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:26158404G>A uc003ngr.2 + 1 56 c.7G>A c.(7-9)GAA>AAA p.E3K HIST1H2BD_uc003ngs.2_Missense_Mutation_p.E3K NM_021063 NP_066407 P58876 H2B1D_HUMAN histone cluster 1, H2bd 3 nucleosome assembly nucleosome|nucleus DNA binding ovary(1)|pancreas(1) 2 TACGATGCCTGAACCTACCAA 0.507 NaN 0 0 0 0.003163 0 15 51 HIST1H2BD 3017 broad.mit.edu 37 6 26158626 26158626 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:26158626G>A uc003ngr.2 + 1 278 c.229G>A c.(229-231)GAG>AAG p.E77K HIST1H2BD_uc003ngs.2_Missense_Mutation_p.E77K NM_021063 NP_066407 P58876 H2B1D_HUMAN histone cluster 1, H2bd 77 nucleosome assembly nucleosome|nucleus DNA binding ovary(1)|pancreas(1) 2 CATCGCAGGCGAGGCTTCCCG 0.612 NaN 0 0 0 0.01441 0 45 94 HIST1H2BE 8344 broad.mit.edu 37 6 26184336 26184336 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:26184336G>C uc003ngt.2 + 1 313 c.313G>C c.(313-315)GGG>CGG p.G105R NM_003523 NP_003514 P62807 H2B1C_HUMAN histone cluster 1, H2be 105 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding 0 GCTGCTTCCCGGGGAGCTGGC 0.617 NaN 0 0 0 0.006122 0 18 52 HIST1H2AE 3012 broad.mit.edu 37 6 26217568 26217568 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:26217568G>A uc003nha.1 + 1 421 c.366G>A c.(364-366)GAG>GAA p.E122E 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 0.010729 0 8 21 BTN3A2 11118 broad.mit.edu 37 6 26368410 26368410 + Splice_Site SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:26368410G>C uc010jqh.1 + 3 260 c.1_splice c.e3-1 p.M1_splice BTN3A2_uc003nho.1_5'UTR|BTN3A2_uc003nhp.2_5'UTR|BTN3A2_uc011dkd.1_Intron|BTN3A2_uc011dke.1_Intron|BTN3A2_uc010jqi.1_5'UTR NM_007047 NP_008978 P78410 BT3A2_HUMAN butyrophilin, subfamily 3, member A2 precursor integral to membrane 0 ATGCAGCATAGATGAAAATGG 0.493 NaN 0 0 0 0.011902 0 36 57 HIST1H1B 3009 broad.mit.edu 37 6 27834692 27834692 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:27834692C>T uc003njx.2 - 1 668 c.616G>A c.(616-618)GCT>ACT p.A206T NM_005322 NP_005313 P16401 H15_HUMAN histone cluster 1, H1b 206 nucleosome assembly nucleosome|nucleus DNA binding large_intestine(2)|lung(1) 3 TTGGGCTTAGCGGCTTTGGGC 0.552 NaN 0 0 0 0.010729 0 10 44 ZNF192 7745 broad.mit.edu 37 6 28120950 28120950 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:28120950G>C uc003nkn.1 + 6 1076 c.892G>C c.(892-894)GAG>CAG p.E298Q ZNF192_uc010jqx.1_Missense_Mutation_p.E298Q|ZNF192_uc010jqy.1_Missense_Mutation_p.E111Q|ZNF192_uc011dkz.1_Missense_Mutation_p.E111Q NM_006298 NP_006289 Q15776 ZN192_HUMAN zinc finger protein 192 298 KRAB. viral reproduction cytoplasm|nucleolus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 CAGGGGTCTTGAGCATGAAGA 0.478 NaN 0 0 0 0.00499 0 18 52 PPP1R10 5514 broad.mit.edu 37 6 30574287 30574287 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:30574287G>C uc003nqn.1 - 8 1144 c.592C>G c.(592-594)CTT>GTT p.L198V PPP1R10_uc010jsc.1_5'UTR NM_002714 NP_002705 Q96QC0 PP1RA_HUMAN protein phosphatase 1, regulatory subunit 10 198 Interaction with TOX4 (By similarity). protein import into nucleus|transcription, DNA-dependent PTW/PP1 phosphatase complex DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding ovary(2)|lung(1)|kidney(1) 4 GTGGTGCGAAGAGACTTGGGC 0.577 NaN 0 0 0 0.007413 0 16 72 C6orf136 221545 broad.mit.edu 37 6 30617717 30617717 + Missense_Mutation SNP A A G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:30617717A>G uc003nqw.3 + 2 648 c.455A>G c.(454-456)TAT>TGT p.Y152C C6orf136_uc003nqx.3_Missense_Mutation_p.Y333C|C6orf136_uc011dmn.1_Intron NM_001109938 NP_001103408 Q5SQH8 CF136_HUMAN hypothetical protein LOC221545 isoform 1 152 0 TCTGTCATGTATGAGAGACTG 0.527 NaN 0 0 0 0.010504 0 20 53 BAT5 7920 broad.mit.edu 37 6 31670992 31670992 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:31670992C>T uc003nvy.1 - 1 97 c.67G>A c.(67-69)GAA>AAA p.E23K BAT5_uc003nvx.1_5'Flank|BAT5_uc011dny.1_5'Flank|BAT5_uc003nvz.1_5'UTR|BAT5_uc011dnz.1_Intron|BAT5_uc010jtc.1_RNA|BAT5_uc011doa.1_5'UTR NM_021160 NP_066983 O95870 ABHGA_HUMAN HLA-B associated transcript 5 23 integral to membrane hydrolase activity|protein binding 0 GGGGCCCTTTCAGAGTCCCTC 0.657 NaN 0 0 0 0.00333 0 18 28 DOM3Z 1797 broad.mit.edu 37 6 31938901 31938901 + Missense_Mutation SNP G G T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:31938901G>T uc003nyo.1 - 2 914 c.380C>A c.(379-381)GCC>GAC p.A127D DOM3Z_uc003nyp.1_Missense_Mutation_p.A127D|DOM3Z_uc003nyq.1_5'UTR|DOM3Z_uc003nyr.1_Missense_Mutation_p.A127D|DOM3Z_uc003nys.1_Missense_Mutation_p.A127D|DOM3Z_uc010jtl.1_3'UTR|STK19_uc003nyt.2_5'Flank|STK19_uc011dow.1_5'Flank|STK19_uc011dox.1_5'Flank|STK19_uc003nyv.2_5'Flank|STK19_uc003nyw.2_5'Flank|STK19_uc010jtn.1_5'Flank NM_005510 NP_005501 O77932 DOM3Z_HUMAN DOM-3 homolog Z 127 identical protein binding|metal ion binding|nucleotide binding 0 CGTCACTATGGCCTCTGCCAG 0.587 NaN 1 0 1.75199e-13 0.007291 1.83485e-13 17 21 TNXB 7148 broad.mit.edu 37 6 32024681 32024681 + Splice_Site SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:32024681C>T uc003nzl.2 - 23 8028 c.7826_splice c.e23-1 p.E2609_splice NM_019105 NP_061978 P22105 TENX_HUMAN tenascin XB isoform 1 precursor actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 GCTTCATCCTCTGGAGTTGGA 0.582 NaN 0 0 0 0.00499 0 14 41 PBX2 5089 broad.mit.edu 37 6 32157485 32157485 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:32157485C>T uc003oav.1 - 1 479 c.208G>A c.(208-210)GAG>AAG p.E70K PBX2_uc003oaw.2_Missense_Mutation_p.E70K NM_002586 NP_002577 P40425 PBX2_HUMAN pre-B-cell leukemia homeobox 2 70 transcription factor binding ovary(1) 1 GCCTGGGCCTCGTCCAGGCTC 0.647 NaN 0 0 0 0.003163 0 15 34 HLA-DOA 3111 broad.mit.edu 37 6 32977305 32977305 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:32977305G>A uc003ocr.2 - 1 85 c.9C>T c.(7-9)CTC>CTT p.L3L HLA-DOA_uc010juj.2_5'UTR|HLA-DOA_uc010jui.2_Silent_p.L3L NM_002119 NP_002110 P06340 DOA_HUMAN major histocompatibility complex, class II, DO 3 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 endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity 0 GCCCTGCTCTGAGGGCCATTA 0.587 NaN 0 0 0 0.009096 0 4 19 B3GALT4 8705 broad.mit.edu 37 6 33245448 33245448 + Silent SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:33245448G>C uc003odr.2 + 1 532 c.252G>C c.(250-252)CTG>CTC p.L84L NM_003782 NP_003773 O96024 B3GT4_HUMAN UDP-Gal:betaGlcNAc beta 84 Lumenal (Potential). protein glycosylation Golgi membrane|integral to membrane ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity ovary(1)|breast(1) 2 CGGAGAACCTGAACCAGAGAA 0.667 NaN 0 0 0 0.004289 0 36 82 WDR46 9277 broad.mit.edu 37 6 33247078 33247078 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:33247078G>C uc003ods.2 - 15 1852 c.1808C>G c.(1807-1809)TCT>TGT p.S603C WDR46_uc011dra.1_Missense_Mutation_p.S549C NM_005452 NP_005443 O15213 WDR46_HUMAN WD repeat domain 46 isoform 1 603 0 GTCCAGGGCAGATGGCCGGGC 0.612 NaN 0 0 0 0.010818 0 29 137 UHRF1BP1 54887 broad.mit.edu 37 6 34831871 34831871 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:34831871C>T uc003oju.3 + 15 3542 c.3308C>T c.(3307-3309)TCT>TTT p.S1103F UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA|UHRF1BP1_uc010jvo.2_Intron NM_017754 NP_060224 Q6BDS2 URFB1_HUMAN ICBP90 binding protein 1 1103 ovary(3) 3 AGGACGGTATCTCAACAGTCA 0.522 NaN 0 0 0 0.008871 0 16 49 C6orf222 389384 broad.mit.edu 37 6 36291244 36291244 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:36291244G>C uc003oly.2 - 8 1475 c.1297C>G c.(1297-1299)CAA>GAA p.Q433E NM_001010903 NP_001010903 P0C671 CF222_HUMAN hypothetical protein LOC389384 433 skin(2)|ovary(1)|breast(1) 4 CTTTTTTCTTGAGATTTCCTT 0.562 NaN 0 0 0 0.01441 0 52 171 KCTD20 222658 broad.mit.edu 37 6 36452534 36452534 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:36452534G>A uc003ome.2 + 7 1291 c.900G>A c.(898-900)GAG>GAA p.E300E KCTD20_uc011dtm.1_Silent_p.E155E|KCTD20_uc011dtn.1_Silent_p.E54E|KCTD20_uc010jwk.2_Silent_p.E134E|KCTD20_uc011dto.1_Silent_p.E54E NM_173562 NP_775833 Q7Z5Y7 KCD20_HUMAN potassium channel tetramerisation domain 300 voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(2) 2 AATATATTGAGAATAGGGATG 0.343 NaN 0 0 0 0.01441 0 125 109 CDKN1A 1026 broad.mit.edu 37 6 36652272 36652272 + Missense_Mutation SNP G G T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 G T G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:36652272G>T uc003omm.3 + 2 516 c.394G>T c.(394-396)GGT>TGT p.G132C CDKN1A_uc011dtq.1_Missense_Mutation_p.G166C|CDKN1A_uc003oml.2_Missense_Mutation_p.G132C|CDKN1A_uc003omn.2_Missense_Mutation_p.G132C NM_000389 NP_000380 P38936 CDN1A_HUMAN cyclin-dependent kinase inhibitor 1A 132 cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding ovary(1)|breast(1) 2 AGGGTCCCCAGGTGGACCTGG 0.592 NaN Multiple_Endocrine_Neoplasia_type_1 1 0 9.05144e-12 0.001855 9.45218e-12 12 27 FTSJD2 23070 broad.mit.edu 37 6 37419600 37419600 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:37419600G>C uc003ons.2 + 6 809 c.556G>C c.(556-558)GAT>CAT p.D186H FTSJD2_uc010jwu.2_Missense_Mutation_p.D186H NM_015050 NP_055865 Q8N1G2 MTR1_HUMAN FtsJ methyltransferase domain containing 2 186 mRNA capping cytoplasm|nucleus mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 5 GATTATTGAAGATGAAACAGA 0.423 NaN 0 0 0 0.00278 0 22 62 DAAM2 23500 broad.mit.edu 37 6 39865036 39865036 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:39865036C>G uc003oow.2 + 21 2752 c.2596C>G c.(2596-2598)CTT>GTT p.L866V DAAM2_uc003oox.2_Missense_Mutation_p.L866V NM_015345 NP_056160 Q86T65 DAAM2_HUMAN dishevelled associated activator of 866 FH2. actin cytoskeleton organization actin binding|Rho GTPase binding ovary(2)|skin(1) 3 Ovarian(28;0.0355)|Colorectal(47;0.196) GCTGCAACATCTTCCAGAAGC 0.448 NaN 0 0 0 0.003755 0 34 80 MOCS1 4337 broad.mit.edu 37 6 39895072 39895072 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:39895072G>A uc003opb.2 - 1 384 c.246C>T c.(244-246)CTC>CTT p.L82L MOCS1_uc003opa.2_Silent_p.L82L|MOCS1_uc003opc.2_Silent_p.L82L|MOCS1_uc003opd.2_Silent_p.L82L|MOCS1_uc003ope.2_Intron NM_005942 NP_005933 Q9NZB8 MOCS1_HUMAN molybdenum cofactor synthesis-step 1 protein 82 Molybdenum cofactor biosynthesis protein A. Mo-molybdopterin cofactor biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol|molybdopterin synthase complex|nucleus 4 iron, 4 sulfur cluster binding|4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding ovary(1)|liver(1)|central_nervous_system(1) 3 Ovarian(28;0.0355)|Colorectal(47;0.196) ACTCACATCTGAGGTTGCACT 0.602 NaN 0 0 0 0.00308 0 8 74 TREML1 340205 broad.mit.edu 37 6 41121535 41121535 + Nonsense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:41121535G>A uc011duc.1 - 2 381 c.337C>T c.(337-339)CAG>TAG p.Q113* TREML1_uc003opx.2_Nonsense_Mutation_p.Q113*|TREML1_uc011dud.1_Intron NM_178174 NP_835468 Q86YW5 TRML1_HUMAN triggering receptor expressed on myeloid 113 Ig-like V-type.|Extracellular (Potential). calcium-mediated signaling|innate immune response|platelet activation cell surface|integral to membrane|plasma membrane|platelet alpha granule protein binding|receptor activity breast(1) 1 Ovarian(28;0.0418)|Colorectal(47;0.196) TGCAAAATCTGGGGCCCCCTG 0.607 NaN 0 0 0 0.01441 0 102 37 TREM2 54209 broad.mit.edu 37 6 41129313 41129313 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:41129313C>T uc003opy.2 - 2 181 c.79G>A c.(79-81)GTG>ATG p.V27M TREM2_uc003opz.2_Missense_Mutation_p.V57M|TREM2_uc010jxl.1_Missense_Mutation_p.V57M NM_018965 NP_061838 Q9NZC2 TREM2_HUMAN triggering receptor expressed on myeloid cells 2 27 Extracellular (Potential). axon guidance|humoral immune response extracellular region|integral to membrane|plasma membrane receptor activity ovary(1) 1 Ovarian(28;0.0418)|Colorectal(47;0.196) TGGCCCGCCACGCCCTGGAAC 0.493 NaN 0 0 0 0.010729 0 5 51 UBR2 23304 broad.mit.edu 37 6 42532121 42532121 + Nonsense_Mutation SNP G G T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:42532121G>T uc011dur.1 + 1 64 c.64G>T c.(64-66)GAG>TAG p.E22* UBR2_uc003osf.2_Nonsense_Mutation_p.E22* NM_015255 NP_056070 Q8IWV8 UBR2_HUMAN ubiquitin protein ligase E3 component n-recognin 22 cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade nucleus|plasma membrane leucine binding|zinc ion binding ovary(3)|pancreas(1) 4 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196) ATGTTCGGCCGAGGAGATTGC 0.697 NaN 1 0 2.17888e-05 0.006214 2.22502e-05 9 7 TBCC 6903 broad.mit.edu 37 6 42713401 42713401 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:42713401G>A uc003osl.2 - 1 484 c.411C>T c.(409-411)TTC>TTT p.F137F NM_003192 NP_003183 Q15814 TBCC_HUMAN beta-tubulin cofactor C 137 'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway cytoplasm|microtubule|photoreceptor connecting cilium chaperone binding|GTPase activity 0 Colorectal(47;0.196) all cancers(41;0.00122)|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;0.125) TCTTGAAAGCGAAACGCTTCT 0.662 NaN 0 0 0 0.001984 0 6 41 MEA1 4201 broad.mit.edu 37 6 42981053 42981053 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:42981053C>T uc003otk.2 - 2 170 c.103G>A c.(103-105)GAG>AAG p.E35K MEA1_uc010jyc.1_Missense_Mutation_p.E22K|KLHDC3_uc003otl.2_5'Flank|KLHDC3_uc003otm.2_5'Flank|KLHDC3_uc010jyf.2_5'Flank|KLHDC3_uc003otn.2_5'Flank NM_014623 NP_055438 Q16626 MEA1_HUMAN male-enhanced antigen 35 cell differentiation|male gonad development|spermatogenesis protein binding central_nervous_system(1)|skin(1) 2 Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) CCCAGTTCCTCAGTCTGATTG 0.522 NaN 0 0 0 0.008361 0 28 157 CUL9 23113 broad.mit.edu 37 6 43181188 43181188 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:43181188G>C uc003ouk.2 + 28 5446 c.5371G>C c.(5371-5373)GAG>CAG p.E1791Q CUL9_uc003oul.2_Missense_Mutation_p.E1791Q|CUL9_uc010jyk.2_Missense_Mutation_p.E943Q|CUL9_uc003oun.2_5'Flank NM_015089 NP_055904 Q8IWT3 CUL9_HUMAN p53-associated parkin-like cytoplasmic protein 1791 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1) 12 GGTGTCAGTAGAGACCTTGCT 0.557 NaN 0 0 0 0.001855 0 13 96 CUL9 23113 broad.mit.edu 37 6 43190340 43190340 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:43190340C>T uc003ouk.2 + 37 7068 c.6993C>T c.(6991-6993)TTC>TTT p.F2331F CUL9_uc003oul.2_Silent_p.F2303F|CUL9_uc010jyk.2_Silent_p.F1483F|CUL9_uc003oun.2_Silent_p.F126F NM_015089 NP_055904 Q8IWT3 CUL9_HUMAN p53-associated parkin-like cytoplasmic protein 2331 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1) 12 CCTTCACCTTCCTCAATGATG 0.607 NaN 0 0 0 0.00632 0 27 39 ZNF318 24149 broad.mit.edu 37 6 43323779 43323779 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:43323779C>T uc003oux.2 - 4 1371 c.1293G>A c.(1291-1293)GAG>GAA p.E431E ZNF318_uc003ouw.2_RNA NM_014345 NP_055160 Q5VUA4 ZN318_HUMAN zinc finger protein 318 431 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding ovary(3)|breast(2)|central_nervous_system(1)|skin(1) 7 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) TGTTTTCAATCTCTGAGGCAA 0.522 NaN 0 0 0 0.01441 0 72 84 C6orf154 221424 broad.mit.edu 37 6 43475602 43475602 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:43475602C>T uc003ovk.1 - 4 1520 c.619G>A c.(619-621)GAC>AAC p.D207N C6orf154_uc003ovj.1_Missense_Mutation_p.D16N NM_001012974 NP_001012992 Q5JTD7 CF154_HUMAN hypothetical protein LOC221424 207 LRR 6. 0 all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711) CCCTCCAAGTCTAGGACCTCT 0.562 NaN 0 0 0 0.001984 0 7 36 GPR110 266977 broad.mit.edu 37 6 46977464 46977464 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:46977464G>A uc003oyt.2 - 11 1906 c.1707C>T c.(1705-1707)TTC>TTT p.F569F GPR110_uc011dwl.1_Silent_p.F257F NM_153840 NP_722582 Q5T601 GP110_HUMAN G-protein coupled receptor 110 isoform 1 569 GPS.|Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(2)|pancreas(1) 3 TCAATATGGAGAAGGAGGTCA 0.358 NaN 0 0 0 0.00499 0 16 67 CRISP3 10321 broad.mit.edu 37 6 49700942 49700942 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:49700942G>C uc003ozs.2 - 6 502 c.487C>G c.(487-489)CTA>GTA p.L163V NM_006061 NP_006052 P54108 CRIS3_HUMAN cysteine-rich secretory protein 3 precursor 163 innate immune response proteinaceous extracellular matrix|specific granule skin(2) 2 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) TAGTATTTTAGAACTTTTTGA 0.303 NaN 0 0 0 0.00623 0 40 161 PGK2 5232 broad.mit.edu 37 6 49753659 49753659 + Silent SNP G G A rs142237772 byFrequency TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:49753659G>A uc003ozu.2 - 1 1349 c.1242C>T c.(1240-1242)CTC>CTT p.L414L NM_138733 NP_620061 P07205 PGK2_HUMAN phosphoglycerate kinase 2 414 glycolysis cytosol ATP binding|phosphoglycerate kinase activity ovary(1) 1 Lung NSC(77;0.0402) ACATGTTGCTGAGGGCCTCTA 0.433 NaN 0 0 0 0.006999 0 38 60 PKHD1 5314 broad.mit.edu 37 6 51612670 51612670 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:51612670G>A uc003pah.1 - 58 10020 c.9744C>T c.(9742-9744)TTC>TTT p.F3248F PKHD1_uc010jzn.1_Silent_p.F1231F|PKHD1_uc003pai.2_Silent_p.F3248F NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 3248 Extracellular (Potential). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) GTTCTGAGGTGAATACAGGCC 0.448 NaN 0 0 0 0.01441 0 53 97 IL17F 112744 broad.mit.edu 37 6 52103570 52103570 + Nonsense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:52103570G>C uc003pam.1 - 2 283 c.212C>G c.(211-213)TCA>TGA p.S71* IL17F_uc003pal.1_Nonsense_Mutation_p.S17* NM_052872 NP_443104 Q96PD4 IL17F_HUMAN interleukin 17F precursor 71 cartilage development|inflammatory response|lymphotoxin A biosynthetic process|negative regulation of angiogenesis|proteoglycan metabolic process|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|regulation of interleukin-2 biosynthetic process|regulation of interleukin-6 biosynthetic process|regulation of interleukin-8 biosynthetic process|regulation of transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|cytokine binding|protein homodimerization activity ovary(1) 1 Lung NSC(77;0.116) GATGTTACGTGACATGGAAAC 0.438 NaN 0 0 0 0.010729 0 11 48 MCM3 4172 broad.mit.edu 37 6 52129560 52129560 + Silent SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:52129560G>C uc003pan.1 - 17 2363 c.2253C>G c.(2251-2253)CTC>CTG p.L751L MCM3_uc011dwu.1_Silent_p.L705L NM_002388 NP_002379 P25205 MCM3_HUMAN minichromosome maintenance complex component 3 751 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm ATP binding|DNA binding|helicase activity|protein binding ovary(1)|lung(1)|skin(1) 3 Lung NSC(77;0.0931) ACACATCCAAGAGGGCCACCT 0.507 NaN 0 0 0 0.01441 0 56 91 GSTA5 221357 broad.mit.edu 37 6 52701150 52701150 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:52701150G>A uc003pba.1 - 4 226 c.156C>T c.(154-156)TTC>TTT p.F52F NM_153699 NP_714543 Q7RTV2 GSTA5_HUMAN glutathione S-transferase alpha 5 52 GST N-terminal. glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity ovary(1) 1 Lung NSC(77;0.0912) Glutathione(DB00143) GTACTTGCTGGAACAGCAAAC 0.403 NaN 0 0 0 0.008361 0 30 149 LRRC1 55227 broad.mit.edu 37 6 53660187 53660187 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:53660187G>C uc003pcd.1 + 1 410 c.133G>C c.(133-135)GCC>CCC p.A45P NM_018214 NP_060684 Q9BTT6 LRRC1_HUMAN leucine rich repeat containing 1 45 LRR 2. cytoplasm|membrane ovary(1) 1 Lung NSC(77;0.0147) BRCA - Breast invasive adenocarcinoma(397;0.0745) GCTGCTGGACGCCAACCAGCT 0.667 NaN 0 0 0 0.004007 0 12 13 BMP5 653 broad.mit.edu 37 6 55739327 55739327 + Missense_Mutation SNP T T C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:55739327T>C uc003pcq.2 - 1 1049 c.337A>G c.(337-339)AGA>GGA p.R113G BMP5_uc011dxf.1_Missense_Mutation_p.R113G NM_021073 NP_066551 P22003 BMP5_HUMAN bone morphogenetic protein 5 preproprotein 113 cartilage development|cell differentiation|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity ovary(2) 2 Lung NSC(77;0.0462) LUSC - Lung squamous cell carcinoma(124;0.181) TATCCCTTTCTTGCCCCTCTG 0.522 NaN 0 0 0 0.012319 0 21 92 RAB23 51715 broad.mit.edu 37 6 57075078 57075078 + Missense_Mutation SNP A A C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:57075078A>C uc003pds.2 - 2 307 c.101T>G c.(100-102)TTT>TGT p.F34C RAB23_uc003pdt.2_Missense_Mutation_p.F34C|RAB23_uc010kac.2_Missense_Mutation_p.F34C|RAB23_uc010kad.2_RNA NM_183227 NP_899050 Q9ULC3 RAB23_HUMAN Ras-related protein Rab-23 34 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding skin(1) 1 Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) GTCTTTTGTAAAAATGCCTTT 0.373 NaN 0 0 0 0.006999 0 42 137 PRIM2 5558 broad.mit.edu 37 6 57183276 57183276 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:57183276G>A uc003pdx.2 + 2 120 c.33G>A c.(31-33)CTG>CTA p.L11L PRIM2_uc003pdv.1_Silent_p.L11L|PRIM2_uc003pdw.2_Silent_p.L11L NM_000947 NP_000938 P49643 PRI2_HUMAN DNA primase polypeptide 2 11 DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|nucleoplasm 4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding 0 Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193) GGAGGAAGCTGAGGTTGGCAG 0.403 NaN 0 0 0 0.006214 0 9 16 COL19A1 1310 broad.mit.edu 37 6 70875842 70875842 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:70875842G>A uc003pfc.1 + 37 2527 c.2410G>A c.(2410-2412)GGA>AGA p.G804R COL19A1_uc010kam.1_Missense_Mutation_p.G700R NM_001858 NP_001849 Q14993 COJA1_HUMAN alpha 1 type XIX collagen precursor 804 Triple-helical region 4 (COL4). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging ovary(2)|breast(2) 4 GGGCAGCGACGGACCCCCTGG 0.443 NaN 0 0 0 0.007291 0 28 171 COL9A1 1297 broad.mit.edu 37 6 70966509 70966509 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:70966509C>T uc003pfg.3 - 21 1624 c.1465G>A c.(1465-1467)GAT>AAT p.D489N COL9A1_uc003pfe.3_Missense_Mutation_p.D62N|COL9A1_uc003pff.3_Missense_Mutation_p.D246N NM_001851 NP_001842 P20849 CO9A1_HUMAN alpha 1 type IX collagen isoform 1 precursor 489 Triple-helical region (COL2). axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding ovary(4) 4 GGTTCACCATCTAAGCCCCGA 0.383 NaN 0 0 0 0.009096 0 3 33 RIMS1 22999 broad.mit.edu 37 6 72892790 72892790 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:72892790C>T uc003pga.2 + 6 1693 c.1616C>T c.(1615-1617)TCG>TTG p.S539L RIMS1_uc011dyb.1_Missense_Mutation_p.S165L|RIMS1_uc003pgc.2_Missense_Mutation_p.S165L|RIMS1_uc003pgb.3_Missense_Mutation_p.S165L NM_014989 NP_055804 Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 539 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) GAGGGCGTGTCGACGCCCGAG 0.692 NaN 0 0 0 0.004672 0 3 3 RIMS1 22999 broad.mit.edu 37 6 72968754 72968754 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:72968754G>A uc003pga.2 + 18 3070 c.2993G>A c.(2992-2994)CGA>CAA p.R998Q RIMS1_uc011dyb.1_Missense_Mutation_p.R623Q|RIMS1_uc003pgc.2_Missense_Mutation_p.R624Q|RIMS1_uc010kaq.2_Missense_Mutation_p.R471Q|RIMS1_uc011dyc.1_Missense_Mutation_p.R472Q|RIMS1_uc010kar.2_Missense_Mutation_p.R391Q|RIMS1_uc011dyd.1_Missense_Mutation_p.R457Q|RIMS1_uc003pgf.2_Missense_Mutation_p.R214Q|RIMS1_uc003pgg.2_Missense_Mutation_p.R215Q|RIMS1_uc003pgi.2_Missense_Mutation_p.R214Q|RIMS1_uc003pgh.2_Missense_Mutation_p.R214Q|RIMS1_uc003pgd.2_Missense_Mutation_p.R215Q|RIMS1_uc003pge.2_Missense_Mutation_p.R215Q|RIMS1_uc011dye.1_5'UTR|RIMS1_uc011dyf.1_5'Flank|RIMS1_uc003pgb.3_Missense_Mutation_p.R624Q|RIMS1_uc010kas.1_Missense_Mutation_p.R457Q NM_014989 NP_055804 Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 998 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) GATGCCTCCCGAAGTCCAGTT 0.353 NaN 0 0 0 0.01441 0 53 73 KCNQ5 56479 broad.mit.edu 37 6 73843259 73843259 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:73843259G>A uc003pgk.2 + 10 1710 c.1363G>A c.(1363-1365)GAG>AAG p.E455K KCNQ5_uc011dyh.1_Missense_Mutation_p.E474K|KCNQ5_uc011dyi.1_Missense_Mutation_p.E465K|KCNQ5_uc010kat.2_Missense_Mutation_p.E446K|KCNQ5_uc011dyj.1_Intron|KCNQ5_uc011dyk.1_Missense_Mutation_p.E205K NM_019842 NP_062816 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like 455 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity ovary(4)|large_intestine(2)|skin(1) 7 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) CATCACAGCCGAGGGCAGTCC 0.592 NaN 0 0 0 0.014323 0 22 68 KCNQ5 56479 broad.mit.edu 37 6 73904551 73904551 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:73904551C>T uc003pgk.2 + 14 2560 c.2213C>T c.(2212-2214)ACG>ATG p.T738M KCNQ5_uc011dyh.1_Missense_Mutation_p.T757M|KCNQ5_uc011dyi.1_Missense_Mutation_p.T748M|KCNQ5_uc010kat.2_Missense_Mutation_p.T729M|KCNQ5_uc011dyj.1_Missense_Mutation_p.T628M|KCNQ5_uc011dyk.1_Missense_Mutation_p.T488M NM_019842 NP_062816 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like 738 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity ovary(4)|large_intestine(2)|skin(1) 7 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) CAAATAAATACGGCACCCAAG 0.532 NaN 0 0 0 0.014323 0 20 22 C6orf150 115004 broad.mit.edu 37 6 74150017 74150017 + Nonsense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:74150017C>T uc003pgx.1 - 3 1168 c.1029G>A c.(1027-1029)TGG>TGA p.W343* NM_138441 NP_612450 Q8N884 M21D1_HUMAN hypothetical protein LOC115004 343 0 TTGCTGAAAGCCAGTTTTGAA 0.393 NaN 0 0 0 0.01441 0 49 93 CD109 135228 broad.mit.edu 37 6 74440088 74440088 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:74440088G>A uc003php.2 + 4 723 c.298G>A c.(298-300)GAG>AAG p.E100K CD109_uc010kaz.2_Missense_Mutation_p.E100K|CD109_uc003phq.2_Missense_Mutation_p.E100K|CD109_uc010kba.2_Intron NM_133493 NP_598000 Q6YHK3 CD109_HUMAN CD109 antigen isoform 1 precursor 100 anchored to membrane|extracellular space|plasma membrane serine-type endopeptidase inhibitor activity large_intestine(2)|ovary(2) 4 CAGTGCAGATGAGATTTATGA 0.373 NaN 0 0 0 0.008361 0 30 135 SENP6 26054 broad.mit.edu 37 6 76425252 76425252 + Nonsense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:76425252C>G uc003pid.3 + 24 3900 c.3281C>G c.(3280-3282)TCA>TGA p.S1094* SENP6_uc003pie.3_Nonsense_Mutation_p.S1087*|SENP6_uc010kbf.2_RNA NM_015571 NP_056386 Q9GZR1 SENP6_HUMAN SUMO1/sentrin specific peptidase 6 isoform 1 1094 Protease. proteolysis cytoplasm|nucleus cysteine-type peptidase activity breast(2)|urinary_tract(1)|ovary(1)|lung(1)|skin(1) 6 all_hematologic(105;0.189) GACACTTACTCAACAGAAGCA 0.363 NaN 0 0 0 0.01441 0 57 80 IMPG1 3617 broad.mit.edu 37 6 76657219 76657219 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:76657219C>T uc003pik.1 - 14 1986 c.1856G>A c.(1855-1857)GGA>GAA p.G619E NM_001563 NP_001554 Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 619 SEA 2. visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) TTGCTTAAATCCTGTAAGATT 0.393 NaN 0 0 0 0.008291 0 10 22 LCA5 167691 broad.mit.edu 37 6 80228490 80228490 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:80228490G>A uc003pix.2 - 2 557 c.122C>T c.(121-123)TCT>TTT p.S41F LCA5_uc003piy.2_Missense_Mutation_p.S41F|LCA5_uc011dyq.1_RNA|LCA5_uc011dyr.1_Missense_Mutation_p.S41F NM_001122769 NP_001116241 Q86VQ0 LCA5_HUMAN Leber congenital amaurosis 5 41 protein transport cilium axoneme|microtubule basal body protein binding 0 all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176) BRCA - Breast invasive adenocarcinoma(397;0.0657) TGCAGGTGAAGAACTGACCAG 0.423 NaN 0 0 0 0.01441 0 108 200 CYB5R4 51167 broad.mit.edu 37 6 84618805 84618805 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:84618805G>A uc003pkf.2 + 4 540 c.408G>A c.(406-408)CTG>CTA p.L136L NM_016230 NP_057314 Q7L1T6 NB5R4_HUMAN cytochrome b5 reductase 4 136 cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process endoplasmic reticulum|perinuclear region of cytoplasm cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity breast(2) 2 all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128) BRCA - Breast invasive adenocarcinoma(397;0.0871) CTGCTGTTCTGAAAGGTAAGT 0.393 NaN 0 0 0 0.006214 0 10 54 KIAA1009 22832 broad.mit.edu 37 6 84862559 84862559 + Nonsense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:84862559G>A uc010kbp.2 - 23 3431 c.3334C>T c.(3334-3336)CAG>TAG p.Q1112* KIAA1009_uc003pkj.3_Nonsense_Mutation_p.Q1036*|KIAA1009_uc003pki.3_Nonsense_Mutation_p.Q498* NM_014895 NP_055710 Q5TB80 QN1_HUMAN KIAA1009 protein 1112 Potential. cell division|mitosis centrosome|nucleus|plasma membrane|spindle protein binding ovary(1) 1 all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258) BRCA - Breast invasive adenocarcinoma(397;0.089) CTGTCTTTCTGAAGCCTCTCC 0.403 NaN 0 0 0 0.005443 0 28 52 GABRR1 2569 broad.mit.edu 37 6 89888585 89888585 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:89888585C>G uc003pna.2 - 10 1799 c.1344G>C c.(1342-1344)ATG>ATC p.M448I GABRR1_uc011dzv.1_Missense_Mutation_p.M425I NM_002042 NP_002033 P24046 GBRR1_HUMAN gamma-aminobutyric acid (GABA) receptor, rho 1 448 Cytoplasmic (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity pancreas(1) 1 all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114) BRCA - Breast invasive adenocarcinoma(108;0.00917) Picrotoxin(DB00466) TGTCGATTCTCATGCTCACAT 0.463 NaN 0 0 0 0.01441 0 44 173 MAP3K7 6885 broad.mit.edu 37 6 91257893 91257893 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:91257893G>A uc003pnz.1 - 10 1115 c.953C>T c.(952-954)TCA>TTA p.S318L MAP3K7_uc003poa.1_Missense_Mutation_p.S318L|MAP3K7_uc003pob.1_Missense_Mutation_p.S318L|MAP3K7_uc003poc.1_Missense_Mutation_p.S318L NM_145331 NP_663304 O43318 M3K7_HUMAN mitogen-activated protein kinase kinase kinase 7 318 activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding|protein binding ovary(2)|lung(2)|upper_aerodigestive_tract(1)|stomach(1) 6 all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164) OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429) GTCCATGAATGAGCCTAGGAA 0.343 NaN 0 0 0 0.006999 0 40 64 KLHL32 114792 broad.mit.edu 37 6 97587083 97587083 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:97587083C>T uc010kcm.1 + 11 2260 c.1788C>T c.(1786-1788)TTC>TTT p.F596F KLHL32_uc011ead.1_Silent_p.F560F|KLHL32_uc003poz.2_Silent_p.F152F|KLHL32_uc011eae.1_Silent_p.F527F|KLHL32_uc003ppa.2_RNA NM_052904 NP_443136 Q96NJ5 KLH32_HUMAN kelch-like 32 596 Kelch 6. ovary(3)|skin(1) 4 all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122) BRCA - Breast invasive adenocarcinoma(108;0.0558) CAGCATGCTTCCTTCCAGCTC 0.448 NaN 0 0 0 0.004878 0 38 153 C6orf167 253714 broad.mit.edu 37 6 97626329 97626329 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:97626329C>G uc003ppb.2 - 18 2935 c.2669G>C c.(2668-2670)CGA>CCA p.R890P C6orf167_uc011eaf.1_Missense_Mutation_p.R850P NM_198468 NP_940870 Q6ZRQ5 MMS22_HUMAN hypothetical protein LOC253714 890 double-strand break repair via homologous recombination|replication fork processing nuclear replication fork protein binding 0 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198) BRCA - Breast invasive adenocarcinoma(108;0.0457) CTCAAAGAATCGAACAAGTGC 0.274 NaN 0 0 0 0.00499 0 16 117 CCNC 892 broad.mit.edu 37 6 99994315 99994315 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:99994315C>G uc003pqe.2 - 10 921 c.634G>C c.(634-636)GAT>CAT p.D212H uc003pqc.2_Intron|CCNC_uc003pqd.2_Missense_Mutation_p.D127H|CCNC_uc010kcr.2_RNA|CCNC_uc010kcs.2_Missense_Mutation_p.D211H|CCNC_uc011eah.1_Missense_Mutation_p.D127H NM_005190 NP_005181 P24863 CCNC_HUMAN cyclin C isoform a 212 regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA-directed RNA polymerase II, holoenzyme protein kinase binding 0 all_cancers(76;8.46e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186) BRCA - Breast invasive adenocarcinoma(108;0.064) TGCCTGGCATCTTTCTGCTGT 0.358 NaN 0 0 0 0.008871 0 17 102 ATG5 9474 broad.mit.edu 37 6 106649864 106649864 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:106649864G>A uc003prf.2 - 7 1027 c.674C>T c.(673-675)TCT>TTT p.S225F ATG5_uc010kdb.2_3'UTR|ATG5_uc003prg.2_Missense_Mutation_p.S147F|ATG5_uc010kdc.2_3'UTR NM_004849 NP_004840 Q9H1Y0 ATG5_HUMAN APG5 autophagy 5-like 225 apoptosis|autophagic vacuole assembly|negative regulation of type I interferon production|post-translational protein modification autophagic vacuole|pre-autophagosomal structure membrane protein binding large_intestine(1) 1 Breast(9;0.0296) all_cancers(87;0.000301)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0612)|Lung NSC(302;0.216) BRCA - Breast invasive adenocarcinoma(8;0.00802) OV - Ovarian serous cystadenocarcinoma(136;0.128)|Epithelial(106;0.159)|all cancers(137;0.18) ATCAATAGCAGAAGGACAAAC 0.378 NaN 0 0 0 0.01441 0 53 58 SESN1 27244 broad.mit.edu 37 6 109415101 109415101 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:109415101G>A uc003psu.2 - 1 187 c.176C>T c.(175-177)TCG>TTG p.S59L C6orf182_uc003psv.3_5'Flank|C6orf182_uc003psw.3_5'Flank|C6orf182_uc010kdk.2_5'Flank|C6orf182_uc003psx.3_5'Flank|C6orf182_uc010kdl.2_5'Flank NM_014454 NP_055269 Q9Y6P5 SESN1_HUMAN sestrin 1 Error:Variant_position_missing_in_Q9Y6P5_after_alignment cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus nucleus ovary(1) 1 all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637) Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117) CAACCCATCCGAAGACTCGGT 0.423 NaN 0 0 0 0.01441 0 74 110 CD164 8763 broad.mit.edu 37 6 109700850 109700850 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:109700850C>T uc003pte.2 - 2 372 c.191G>A c.(190-192)CGA>CAA p.R64Q CD164_uc003ptd.2_Missense_Mutation_p.R64Q|CD164_uc003ptf.2_Missense_Mutation_p.R64Q|CD164_uc011eap.1_Missense_Mutation_p.R64Q|CD164_uc010kdn.2_Missense_Mutation_p.R64Q NM_006016 NP_006007 Q04900 MUC24_HUMAN CD164 molecule, sialomucin isoform 1 64 Extracellular (Potential). hemopoiesis|heterophilic cell-cell adhesion|immune response|muscle organ development|negative regulation of cell adhesion|negative regulation of cell proliferation|signal transduction endosome membrane|extracellular region|integral to plasma membrane|lysosomal membrane protein binding 0 all_cancers(87;4.65e-22)|all_epithelial(87;2.54e-20)|all_lung(197;1.6e-05)|Lung NSC(302;2.92e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.0175) Epithelial(106;7.83e-46)|all cancers(137;1.15e-45)|OV - Ovarian serous cystadenocarcinoma(136;2.89e-26)|BRCA - Breast invasive adenocarcinoma(108;0.00128)|GBM - Glioblastoma multiforme(226;0.16) GCAGCTGTTTCGACCTTCACA 0.358 NaN 0 0 0 0.01441 0 67 65 FAM26D 221301 broad.mit.edu 37 6 116879249 116879249 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:116879249G>A uc003pxa.2 + 4 690 c.391G>A c.(391-393)GAT>AAT p.D131N FAM26D_uc003pwz.2_Missense_Mutation_p.D88N|FAM26D_uc010ked.2_Missense_Mutation_p.D130N NM_153036 NP_694581 Q5JW98 FA26D_HUMAN hypothetical protein LOC221301 274 integral to membrane 0 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0458)|OV - Ovarian serous cystadenocarcinoma(136;0.0694)|Epithelial(106;0.222) GGACTGGAAAGATATTTCAGT 0.453 NaN 0 0 0 0.01441 0 54 101 FAM162B 221303 broad.mit.edu 37 6 117086385 117086385 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:117086385G>A uc003pxi.2 - 2 353 c.206C>T c.(205-207)CCT>CTT p.P69L NM_001085480 NP_001078949 Q5T6X4 F162B_HUMAN hypothetical protein LOC221303 69 integral to membrane 0 GAACTGCGAAGGCCTGCGCTG 0.627 NaN 0 0 0 0.00499 0 16 25 GPRC6A 222545 broad.mit.edu 37 6 117127788 117127788 + Missense_Mutation SNP A A C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:117127788A>C uc003pxj.1 - 3 1102 c.1080T>G c.(1078-1080)CAT>CAG p.H360Q GPRC6A_uc003pxk.1_Intron|GPRC6A_uc003pxl.1_Missense_Mutation_p.H360Q NM_148963 NP_683766 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, 360 Extracellular (Potential). response to amino acid stimulus G-protein coupled receptor activity ovary(4)|skin(2) 6 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) AGGCAGATAAATGCATGGCAT 0.398 NaN 0 0 0 0.003954 0 26 101 MAN1A1 4121 broad.mit.edu 37 6 119669855 119669855 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:119669855C>T uc003pym.1 - 2 818 c.376G>A c.(376-378)GAA>AAA p.E126K MAN1A1_uc010kei.1_Missense_Mutation_p.E126K NM_005907 NP_005898 P33908 MA1A1_HUMAN mannosidase, alpha, class 1A, member 1 126 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) TCGTGGTTTTCGCGGATCCTG 0.507 NaN 0 0 0 0.00333 0 24 41 NCOA7 135112 broad.mit.edu 37 6 126203598 126203598 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:126203598G>A uc010kes.2 + 9 1049 c.600G>A c.(598-600)TTG>TTA p.L200L NCOA7_uc003qae.3_Silent_p.L200L|NCOA7_uc003qah.2_Silent_p.L200L|NCOA7_uc003qai.2_Silent_p.L200L|NCOA7_uc010ket.2_Silent_p.L96L|NCOA7_uc003qaf.2_Silent_p.L200L|NCOA7_uc003qag.2_Silent_p.L200L NM_181782 NP_861447 Q8NI08 NCOA7_HUMAN nuclear receptor coactivator 7 isoform 1 200 cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding lung(2)|ovary(1) 3 UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237) GAAAGGCCTTGAAACCCATTG 0.358 NaN 0 0 0 0.006122 0 18 38 LAMA2 3908 broad.mit.edu 37 6 129796544 129796544 + Silent SNP A A C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:129796544A>C uc003qbn.2 + 52 7554 c.7449A>C c.(7447-7449)GCA>GCC p.A2483A LAMA2_uc003qbo.2_Intron NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 2483 Laminin G-like 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) GTATGAAAGCAAGGTAAAATT 0.318 NaN 0 0 0 0.008291 0 10 33 L3MBTL3 84456 broad.mit.edu 37 6 130376350 130376350 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:130376350C>T uc003qbt.2 + 8 787 c.617C>T c.(616-618)TCG>TTG p.S206L L3MBTL3_uc003qbu.2_Missense_Mutation_p.S181L NM_032438 NP_115814 Q96JM7 LMBL3_HUMAN l(3)mbt-like 3 isoform a 206 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(5)|skin(1) 6 GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154) CTGAGGGGTTCGCAGAGAGCA 0.383 NaN 0 0 0 0.006214 0 7 64 BCLAF1 9774 broad.mit.edu 37 6 136596991 136596991 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:136596991C>T uc003qgx.1 - 5 1925 c.1672G>A c.(1672-1674)GAT>AAT p.D558N BCLAF1_uc003qgw.1_Missense_Mutation_p.D385N|BCLAF1_uc003qgy.1_Missense_Mutation_p.D556N|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.D556N NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 isoform 558 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(1) 1 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) CTGTTAGAATCATCAAGAGGA 0.383 NaN 0 0 0 0.01441 0 71 169 MAP3K5 4217 broad.mit.edu 37 6 137017141 137017141 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:137017141C>G uc003qhc.2 - 6 1391 c.1030G>C c.(1030-1032)GAT>CAT p.D344H MAP3K5_uc011edk.1_Missense_Mutation_p.D189H|MAP3K5_uc010kgw.1_Missense_Mutation_p.D344H NM_005923 NP_005914 Q99683 M3K5_HUMAN mitogen-activated protein kinase kinase kinase 344 activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding ovary(2)|skin(2)|lung(1) 5 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569) GAGGCCAAATCAAAGGTTGGC 0.358 NaN 0 0 0 0.007835 0 37 65 CCDC28A 25901 broad.mit.edu 37 6 139094917 139094917 + Missense_Mutation SNP G G A rs34991012 byFrequency TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:139094917G>A uc003qie.2 + 1 261 c.106G>A c.(106-108)GAG>AAG p.E36K uc003qid.1_5'Flank NM_015439 NP_056254 Q8IWP9 CC28A_HUMAN coiled-coil domain containing 28A 36 0 OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306) TAAACAAACGGAGCTGCGGAG 0.657 NaN 0 0 0 0.003271 0 29 138 CCDC28A 25901 broad.mit.edu 37 6 139094928 139094928 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:139094928G>A uc003qie.2 + 1 272 c.117G>A c.(115-117)AGG>AGA p.R39R uc003qid.1_5'Flank NM_015439 NP_056254 Q8IWP9 CC28A_HUMAN coiled-coil domain containing 28A 39 0 OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306) AGCTGCGGAGGAGCGGGTCCC 0.647 NaN 0 0 0 0.009535 0 23 131 CITED2 10370 broad.mit.edu 37 6 139694349 139694349 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:139694349C>T uc003qip.1 - 2 977 c.733G>A c.(733-735)GAA>AAA p.E245K NM_006079 NP_006070 Q99967 CITE2_HUMAN Cbp/p300-interacting transactivator, with 245 Asp/Glu-rich (acidic). Missing: Inhibits transactivation activity. adrenal cortex formation|anti-apoptosis|cell proliferation|determination of left/right symmetry|heart development|liver development|negative regulation of cell migration|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell cycle|positive regulation of cell-cell adhesion|positive regulation of male gonad development|positive regulation of peroxisome proliferator activated receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of organ formation|response to estrogen stimulus|response to fluid shear stress|response to hypoxia|sex determination cytoplasm|nuclear chromatin|nucleus chromatin binding|LBD domain binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity 0 Breast(32;0.226) GBM - Glioblastoma multiforme(68;0.000171)|OV - Ovarian serous cystadenocarcinoma(155;0.00134) AGCCAGAGTTCGGGCAGCTCC 0.512 NaN 0 0 0 0.003755 0 36 121 UTRN 7402 broad.mit.edu 37 6 144759888 144759888 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:144759888G>A uc003qkt.2 + 11 1341 c.1249G>A c.(1249-1251)GAT>AAT p.D417N UTRN_uc010khq.1_Missense_Mutation_p.D417N NM_007124 NP_009055 P46939 UTRO_HUMAN utrophin 417 Interaction with SYNM.|Spectrin 2. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding ovary(4)|pancreas(1) 5 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) CAGGCTGCACGATGTGCTGAT 0.517 NaN 0 0 0 0.009535 0 30 79 UTRN 7402 broad.mit.edu 37 6 144820495 144820495 + Missense_Mutation SNP G G A rs142782123 TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:144820495G>A uc003qkt.2 + 33 4788 c.4696G>A c.(4696-4698)GAA>AAA p.E1566K NM_007124 NP_009055 P46939 UTRO_HUMAN utrophin 1566 Interaction with SYNM.|Spectrin 11. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding ovary(4)|pancreas(1) 5 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) TACTGAAACTGAATTGGTACA 0.448 NaN 0 0 0 0.003954 0 26 41 UTRN 7402 broad.mit.edu 37 6 145160371 145160371 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:145160371G>A uc003qkt.2 + 71 10220 c.10128G>A c.(10126-10128)CTG>CTA p.L3376L NM_007124 NP_009055 P46939 UTRO_HUMAN utrophin 3376 muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding ovary(4)|pancreas(1) 5 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) ATTCTGCACTGAGCTACTCGC 0.537 NaN 0 0 0 0.008361 0 28 60 SASH1 23328 broad.mit.edu 37 6 148855934 148855934 + Silent SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:148855934C>G uc003qme.1 + 16 2467 c.1992C>G c.(1990-1992)ACC>ACG p.T664T SASH1_uc011eeb.1_Silent_p.T425T|SASH1_uc003qmf.1_Silent_p.T74T NM_015278 NP_056093 O94885 SASH1_HUMAN SAM and SH3 domain containing 1 664 SAM 1. protein binding central_nervous_system(1) 1 Ovarian(120;0.0169) OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701) ATTTGGACACCTTTAAGCTGC 0.488 NaN 0 0 0 0.01441 0 71 86 TAB2 23118 broad.mit.edu 37 6 149700055 149700055 + Missense_Mutation SNP G G C rs1053435 TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:149700055G>C uc003qmj.2 + 3 1182 c.1004G>C c.(1003-1005)AGA>ACA p.R335T TAB2_uc011eec.1_Missense_Mutation_p.R303T|TAB2_uc010kia.1_Missense_Mutation_p.R335T|TAB2_uc010kib.1_Missense_Mutation_p.R335T|TAB2_uc003qmk.3_RNA NM_015093 NP_055908 Q9NYJ8 TAB2_HUMAN mitogen-activated protein kinase kinase kinase 7 335 activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane K63-linked polyubiquitin binding|zinc ion binding 0 CCCCCACAAAGAAATAATTCT 0.418 NaN 0 0 0 0.012213 0 31 48 RMND1 55005 broad.mit.edu 37 6 151754317 151754318 + Missense_Mutation DNP CC CC AA TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:151754317_151754318CC>AA uc003qoi.2 - 4 841_842 c.661_662GG>TT c.(661-663)GGT>TTT p.G221F RMND1_uc011eeq.1_Missense_Mutation_p.G10F NM_017909 NP_060379 Q9NWS8 RMND1_HUMAN required for meiotic nuclear division 1 homolog 221 0 Ovarian(120;0.125) BRCA - Breast invasive adenocarcinoma(37;0.146) OV - Ovarian serous cystadenocarcinoma(155;6.8e-11) TCCAGGATCACCTTCTTTTGCA 0.381 NaN 0 0 0 0.004672 0 13 58 SYNE1 23345 broad.mit.edu 37 6 152831425 152831425 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:152831425C>T uc010kiw.2 - 8 1086 c.484G>A c.(484-486)GAG>AAG p.E162K SYNE1_uc003qot.3_Missense_Mutation_p.E169K|SYNE1_uc003qou.3_Missense_Mutation_p.E162K|SYNE1_uc010kjb.1_Missense_Mutation_p.E162K|SYNE1_uc003qpa.1_Missense_Mutation_p.E162K NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 162 Actin-binding.|Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CTGGGAGTCTCAGAGCTAACT 0.498 NaN HNSCC(10;0.0054) 0 0 0 0.01441 0 63 84 RBM16 22828 broad.mit.edu 37 6 155129288 155129288 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:155129288C>T uc003qqa.2 + 11 1298 c.1066C>T c.(1066-1068)CTT>TTT p.L356F RBM16_uc011efj.1_Missense_Mutation_p.L422F|RBM16_uc011efk.1_Missense_Mutation_p.L401F|RBM16_uc003qpz.2_Missense_Mutation_p.L356F|RBM16_uc010kji.2_Missense_Mutation_p.L377F NM_014892 NP_055707 Q9UPN6 SCAF8_HUMAN RNA-binding motif protein 16 356 Gln-rich. mRNA processing|RNA splicing nuclear matrix|spliceosomal complex nucleotide binding|RNA binding|RNA polymerase core enzyme binding 0 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;2.33e-15)|BRCA - Breast invasive adenocarcinoma(81;0.00524) GCAGCATTTTCTTGAACCTGA 0.388 NaN 0 0 0 0.003954 0 25 98 RBM16 22828 broad.mit.edu 37 6 155143463 155143463 + Nonsense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:155143463C>T uc003qqa.2 + 17 2078 c.1846C>T c.(1846-1848)CAG>TAG p.Q616* RBM16_uc011efj.1_Nonsense_Mutation_p.Q682*|RBM16_uc011efk.1_Nonsense_Mutation_p.Q661*|RBM16_uc003qpz.2_Nonsense_Mutation_p.Q616*|RBM16_uc010kji.2_Nonsense_Mutation_p.Q637* NM_014892 NP_055707 Q9UPN6 SCAF8_HUMAN RNA-binding motif protein 16 616 mRNA processing|RNA splicing nuclear matrix|spliceosomal complex nucleotide binding|RNA binding|RNA polymerase core enzyme binding 0 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;2.33e-15)|BRCA - Breast invasive adenocarcinoma(81;0.00524) CCAGACAACTCAGAGCCCAAC 0.448 NaN 0 0 0 0.01441 0 62 120 TULP4 56995 broad.mit.edu 37 6 158924726 158924726 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:158924726G>A uc003qrf.2 + 13 5388 c.4031G>A c.(4030-4032)CGA>CAA p.R1344Q TULP4_uc003qrg.2_Intron NM_020245 NP_064630 Q9NRJ4 TULP4_HUMAN tubby like protein 4 isoform 1 1344 intracellular signal transduction|response to nutrient cytoplasm protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171) OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05) CTGGACAGCCGAGCAGAAGAA 0.537 NaN 0 0 0 0.004482 0 9 47 TMEM181 57583 broad.mit.edu 37 6 159052907 159052907 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:159052907C>T uc003qrm.3 + 17 1837 c.1826C>T c.(1825-1827)TCA>TTA p.S609L NM_020823 NP_065874 Q9P2C4 TM181_HUMAN G protein-coupled receptor 178 609 pathogenesis integral to membrane toxin binding ovary(2)|central_nervous_system(1) 3 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05) AAGGAGGAGTCAGATAGTGAC 0.557 NaN 0 0 0 0.004672 0 3 4 SYTL3 94120 broad.mit.edu 37 6 159173048 159173048 + Nonsense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:159173048C>T uc003qrp.2 + 12 1367 c.1123C>T c.(1123-1125)CAG>TAG p.Q375* SYTL3_uc011efp.1_Nonsense_Mutation_p.Q375*|SYTL3_uc003qro.2_Nonsense_Mutation_p.Q307*|SYTL3_uc003qrq.2_Nonsense_Mutation_p.Q307*|SYTL3_uc003qrr.2_Nonsense_Mutation_p.Q375*|SYTL3_uc003qrs.2_Nonsense_Mutation_p.Q307*|SYTL3_uc011efq.1_Nonsense_Mutation_p.Q101* NM_001009991 NP_001009991 Q4VX76 SYTL3_HUMAN synaptotagmin-like 3 375 C2 1. intracellular protein transport endomembrane system|membrane Rab GTPase binding 0 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06) CCCGACCTTTCAGGAGACCTT 0.577 NaN 0 0 0 0.000602 0 5 29 EZR 7430 broad.mit.edu 37 6 159204664 159204664 + Nonsense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:159204664G>A uc003qrt.3 - 6 801 c.586C>T c.(586-588)CAG>TAG p.Q196* EZR_uc011efs.1_Nonsense_Mutation_p.Q164*|EZR_uc003qru.3_Nonsense_Mutation_p.Q196* NM_003379 NP_003370 P15311 EZRI_HUMAN ezrin 196 FERM. actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane actin filament binding|cell adhesion molecule binding ovary(1) 1 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06) TCCAGGTCCTGAGCAATCTTC 0.393 NaN 0 0 0 0.004656 0 28 106 FNDC1 84624 broad.mit.edu 37 6 159677592 159677592 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:159677592C>T uc010kjv.2 + 18 5303 c.5103C>T c.(5101-5103)ATC>ATT p.I1701I NM_032532 NP_115921 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 1701 Fibronectin type-III 5. extracellular region large_intestine(4)|ovary(3)|central_nervous_system(1) 8 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) AAGACTTCATCAGGAACAAGT 0.423 NaN 0 0 0 0.01441 0 62 173 FNDC1 84624 broad.mit.edu 37 6 159677606 159677606 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:159677606C>G uc010kjv.2 + 18 5317 c.5117C>G c.(5116-5118)TCC>TGC p.S1706C NM_032532 NP_115921 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 1706 Fibronectin type-III 5. extracellular region large_intestine(4)|ovary(3)|central_nervous_system(1) 8 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) AACAAGTGGTCCACTCAAGCT 0.433 NaN 0 0 0 0.01441 0 65 168 IGF2R 3482 broad.mit.edu 37 6 160500612 160500612 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:160500612G>C uc003qta.2 + 38 5627 c.5479G>C c.(5479-5481)GTG>CTG p.V1827L NM_000876 NP_000867 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor precursor 1827 13.|Lumenal (Potential). receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity ovary(3) 3 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) TTTTGTCCAGGTGACTCGCGA 0.577 NaN 0 0 0 0.004672 0 3 11 LPA 4018 broad.mit.edu 37 6 160998217 160998217 + Missense_Mutation SNP A A G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:160998217A>G uc003qtl.2 - 29 4702 c.4582T>C c.(4582-4584)TCT>CCT p.S1528P NM_005577 NP_005568 P08519 APOA_HUMAN lipoprotein Lp(a) precursor 4036 Kringle 36. 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) GGTATCATAGATGACCAAGAT 0.463 NaN 0 0 0 0.004878 0 37 144 MLLT4 4301 broad.mit.edu 37 6 168352586 168352586 + Silent SNP C C T rs141139097 TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:168352586C>T uc003qwd.2 + 29 4670 c.4528C>T c.(4528-4530)CTG>TTG p.L1510L MLLT4_uc003qwb.1_Silent_p.L1495L|MLLT4_uc003qwc.1_Silent_p.L1511L|MLLT4_uc003qwg.1_Silent_p.L820L NM_001040001 NP_001035090 P55196 AFAD_HUMAN myeloid/lymphoid or mixed-lineage leukemia 1511 adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction adherens junction|cell-cell junction|cytosol|nucleus protein C-terminus binding ovary(2)|lung(1)|kidney(1)|central_nervous_system(1) 5 Breast(66;1.07e-05)|Ovarian(120;0.024) Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117) GGGGGACAGTCTGTCCCCCGA 0.602 NaN T MLL AL 0 0 0 0.004656 0 24 29 THBS2 7058 broad.mit.edu 37 6 169629759 169629759 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:169629759G>C uc003qwt.2 - 15 2415 c.2167C>G c.(2167-2169)CTG>GTG p.L723V NM_003247 NP_003238 P35442 TSP2_HUMAN thrombospondin 2 precursor 723 TSP type-3 1. cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity ovary(5) 5 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) GAATTTGGCAGATGGGGGCAG 0.483 NaN 0 0 0 0.00278 0 22 97 CARD11 84433 broad.mit.edu 37 7 2966391 2966391 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr7:2966391C>T uc003smv.2 - 14 2193 c.1789G>A c.(1789-1791)GAC>AAC p.D597N NM_032415 NP_115791 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 597 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1) 50 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) TCTAAGGCGTCAAACCCGCCG 0.577 NaN Mis DLBCL 0 0 0 0.009096 0 4 11 CARD11 84433 broad.mit.edu 37 7 2966418 2966418 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr7:2966418C>T uc003smv.2 - 14 2166 c.1762G>A c.(1762-1764)GAA>AAA p.E588K NM_032415 NP_115791 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 588 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1) 50 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) TTGTCTTCTTCGACTGTGCTG 0.567 NaN Mis DLBCL 0 0 0 0.001168 0 5 12 RNF216 54476 broad.mit.edu 37 7 5780687 5780687 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr7:5780687G>C uc003soy.1 - 4 980 c.790C>G c.(790-792)CAA>GAA p.Q264E RNF216_uc010ksz.1_5'UTR|RNF216_uc010kta.1_Intron|RNF216_uc011jwj.1_Intron|RNF216_uc003sox.1_Missense_Mutation_p.Q321E NM_207116 NP_996999 Q9NWF9 RN216_HUMAN ring finger protein 216 isoform b 264 apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production cytoplasm|nucleus|nucleus ligase activity|protein binding|protein binding|zinc ion binding ovary(3)|breast(2) 5 Ovarian(82;0.07) UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13) TTGGGCTCTTGAGATTCTTGC 0.453 NaN 0 0 0 0.012213 0 32 108 ARL4A 10124 broad.mit.edu 37 7 12728246 12728246 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr7:12728246G>A uc003ssp.2 + 2 644 c.367G>A c.(367-369)GAA>AAA p.E123K ARL4A_uc003ssq.2_Missense_Mutation_p.E123K|ARL4A_uc003ssr.2_Missense_Mutation_p.E123K|ARL4A_uc003sss.2_Missense_Mutation_p.E123K NM_001037164 NP_001032241 P40617 ARL4A_HUMAN ADP-ribosylation factor-like 4A 123 small GTPase mediated signal transduction cytoplasm|nucleolus|plasma membrane GTP binding|protein binding 0 UCEC - Uterine corpus endometrioid carcinoma (126;0.176) TAGGATATCAGAAAATCAGGG 0.378 NaN 0 0 0 0.013537 0 11 78 ETV1 2115 broad.mit.edu 37 7 13975376 13975376 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr7:13975376G>C uc011jxq.1 - 8 1250 c.511C>G c.(511-513)CCA>GCA p.P171A ETV1_uc011jxn.1_Missense_Mutation_p.P131A|ETV1_uc011jxo.1_Intron|ETV1_uc011jxp.1_Missense_Mutation_p.P113A|ETV1_uc003ssw.3_Missense_Mutation_p.P171A|ETV1_uc003ssx.2_RNA|ETV1_uc011jxr.1_Missense_Mutation_p.P153A|ETV1_uc011jxs.1_Missense_Mutation_p.P153A|ETV1_uc010ktv.2_Missense_Mutation_p.P40A NM_004956 NP_004947 P50549 ETV1_HUMAN ets variant gene 1 isoform a 171 transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity TMPRSS2/ETV1(24)|EWSR1/ETV1(7) prostate(24)|soft_tissue(4)|bone(3)|lung(2)|central_nervous_system(1)|ovary(1) 35 GACTGCGATGGAGGGAGGTGA 0.512 NaN T EWSR1|TMPRSS2|SLC45A3|C15orf21|HNRNPA2B1. ACSL3 Ewing sarcoma|prostate 0 0 0 0.009535 0 30 176 TMEM195 392636 broad.mit.edu 37 7 15601351 15601351 + Silent SNP T T C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr7:15601351T>C uc003stb.1 - 1 290 c.120A>G c.(118-120)GTA>GTG p.V40V NM_001004320 NP_001004320 Q6ZNB7 ALKMO_HUMAN transmembrane protein 195 40 ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process endoplasmic reticulum membrane|integral to membrane glyceryl-ether monooxygenase activity|iron ion binding 0 TCACCTTTTTTACATAATCAG 0.373 NaN 0 0 0 0.003271 0 30 127 AGR2 10551 broad.mit.edu 37 7 16840963 16840963 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr7:16840963G>A uc003str.2 - 3 371 c.184C>T c.(184-186)CTA>TTA p.L62L AGR2_uc011jxy.1_3'UTR NM_006408 NP_006399 O95994 AGR2_HUMAN anterior gradient 2 homolog precursor 62 mucus secretion endoplasmic reticulum|extracellular region protein binding 0 Lung NSC(10;0.0376)|all_lung(11;0.0855) UCEC - Uterine corpus endometrioid carcinoma (126;0.184) GATTTATATAGAGCTTCTTCA 0.388 NaN 0 0 0 0.00245 0 14 55 HDAC9 9734 broad.mit.edu 37 7 18705862 18705862 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr7:18705862G>A uc003suh.2 + 11 1526 c.1485G>A c.(1483-1485)CTG>CTA p.L495L HDAC9_uc003sue.2_Silent_p.L495L|HDAC9_uc011jyd.1_Silent_p.L495L|HDAC9_uc003sui.2_Silent_p.L498L|HDAC9_uc003suj.2_Silent_p.L454L|HDAC9_uc011jya.1_Silent_p.L492L|HDAC9_uc003sua.1_Silent_p.L473L|HDAC9_uc011jyb.1_Silent_p.L451L|HDAC9_uc003sud.1_Silent_p.L495L|HDAC9_uc011jyc.1_Silent_p.L454L|HDAC9_uc003suf.1_Silent_p.L526L|HDAC9_uc010kud.1_Silent_p.L498L|HDAC9_uc011jye.1_Silent_p.L467L|HDAC9_uc011jyf.1_Silent_p.L418L|HDAC9_uc010kue.1_Intron NM_058176 NP_478056 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 isoform 1 495 B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity lung(2)|central_nervous_system(2)|kidney(1) 5 all_lung(11;0.187) Valproic Acid(DB00313) TTGAACAACTGAAGCAACCAG 0.473 NaN OREG0017877 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.004289 0 36 133 NUPL2 11097 broad.mit.edu 37 7 23240239 23240239 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr7:23240239G>C uc003svu.2 + 7 1406 c.1147G>C c.(1147-1149)GAT>CAT p.D383H NUPL2_uc003svv.2_RNA|NUPL2_uc003svw.2_Missense_Mutation_p.D260H|NUPL2_uc011jyw.1_RNA|NUPL2_uc003svx.2_Missense_Mutation_p.D260H|NUPL2_uc011jyx.1_Missense_Mutation_p.D155H NM_007342 NP_031368 O15504 NUPL2_HUMAN nucleoporin like 2 383 Interaction with GLE1. carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nuclear pore nuclear export signal receptor activity|nucleic acid binding|zinc ion binding skin(2)|ovary(1) 3 CATTGCAACAGATAATGTGTT 0.393 NaN 0 0 0 0.00632 0 28 174 C7orf41 222166 broad.mit.edu 37 7 30174846 30174846 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr7:30174846G>A uc011kab.1 + 1 295 c.94G>A c.(94-96)GAT>AAT p.D32N C7orf41_uc010kvr.1_RNA|C7orf41_uc003tar.1_Missense_Mutation_p.D32N NM_152793 NP_690006 Q8N3F0 CG041_HUMAN hypothetical protein LOC222166 32 0 ACGCAGGATGGATTTCTACGC 0.597 NaN 0 0 0 0.004672 0 3 13 EEPD1 80820 broad.mit.edu 37 7 36327382 36327382 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr7:36327382G>A uc003tfa.2 + 6 1951 c.1311G>A c.(1309-1311)CTG>CTA p.L437L NM_030636 NP_085139 Q7L9B9 EEPD1_HUMAN endonuclease/exonuclease/phosphatase family 437 DNA repair DNA binding 0 AGGAAACCCTGAAAGGTAGGA 0.567 NaN 0 0 0 0.01441 0 44 78 PSMA2 5683 broad.mit.edu 37 7 42964297 42964297 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr7:42964297C>T uc003thy.2 - 4 399 c.351G>A c.(349-351)GTG>GTA p.V117V C7orf25_uc010kxr.2_5'UTR|PSMA2_uc010kxt.2_Silent_p.V39V|PSMA2_uc003thz.1_Silent_p.V39V NM_002787 NP_002778 P25787 PSA2_HUMAN proteasome subunit alpha type 2 117 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|response to virus|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex, alpha-subunit complex protein binding|threonine-type endopeptidase activity large_intestine(2)|ovary(1) 3 ATTCTTGCATCACAGAAGCTA 0.393 NaN 0 0 0 0.005443 0 27 131 HECW1 23072 broad.mit.edu 37 7 43540819 43540819 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr7:43540819G>A uc003tid.1 + 21 4134 c.3529G>A c.(3529-3531)GAA>AAA p.E1177K HECW1_uc011kbi.1_Missense_Mutation_p.E1143K NM_015052 NP_055867 Q76N89 HECW1_HUMAN NEDD4-like ubiquitin-protein ligase 1 1177 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1) 23 CAGTCTCTTTGAAGAAGAGAT 0.423 NaN 0 0 0 0.001855 0 14 63 NPC1L1 29881 broad.mit.edu 37 7 44573037 44573037 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr7:44573037C>T uc003tlb.2 - 8 2458 c.2402G>A c.(2401-2403)AGG>AAG p.R801K NPC1L1_uc003tlc.2_Missense_Mutation_p.R801K|NPC1L1_uc011kbw.1_Missense_Mutation_p.R801K|NPC1L1_uc003tld.2_3'UTR NM_013389 NP_037521 Q9UHC9 NPCL1_HUMAN Niemann-Pick C1-like protein 1 isoform 1 801 Cytoplasmic (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) TACCTCCTGCCTCTTGCTGTC 0.622 NaN 0 0 0 0.007291 0 29 40 COBL 23242 broad.mit.edu 37 7 51095844 51095844 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr7:51095844C>T uc003tpr.3 - 10 3134 c.2949G>A c.(2947-2949)CAG>CAA p.Q983Q COBL_uc003tps.2_Silent_p.Q1040Q|COBL_uc011kcl.1_Silent_p.Q983Q|COBL_uc003tpp.3_Silent_p.Q769Q|COBL_uc003tpq.3_Silent_p.Q924Q|COBL_uc003tpo.3_Silent_p.Q525Q NM_015198 NP_056013 O75128 COBL_HUMAN cordon-bleu homolog 983 skin(3)|ovary(2) 5 Glioma(55;0.08) CACGATCCCTCTGGGAAGACT 0.557 NaN 0 0 0 0.004007 0 16 62 VSTM2A 222008 broad.mit.edu 37 7 54612455 54612455 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr7:54612455C>T uc010kzf.2 + 2 625 c.220C>T c.(220-222)CCC>TCC p.P74S VSTM2A_uc010kze.2_Missense_Mutation_p.P74S|VSTM2A_uc003tqc.3_Missense_Mutation_p.P74S NM_182546 NP_872352 Q8TAG5 VTM2A_HUMAN V-set and transmembrane domain containing 2 74 Ig-like V-type. extracellular region 0 STAD - Stomach adenocarcinoma(5;0.0525) GGACCTGGATCCCGGGGCCGA 0.736 NaN 0 0 0 0.001984 0 7 14 SUMF2 25870 broad.mit.edu 37 7 56141885 56141885 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr7:56141885C>T uc003trv.2 + 4 446 c.415C>T c.(415-417)CCA>TCA p.P139S PSPH_uc003trj.2_Intron|SUMF2_uc011kcv.1_RNA|SUMF2_uc011kcw.1_Missense_Mutation_p.P139S|SUMF2_uc011kcx.1_Missense_Mutation_p.P139S|SUMF2_uc003trt.2_Missense_Mutation_p.P32S|SUMF2_uc011kcy.1_Intron|SUMF2_uc011kcz.1_Intron|SUMF2_uc003tru.2_RNA|SUMF2_uc011kda.1_Intron|SUMF2_uc003trx.2_Intron NM_001130069 NP_001123541 Q8NBJ7 SUMF2_HUMAN sulfatase modifying factor 2 isoform e 120 endoplasmic reticulum lumen metal ion binding ovary(1)|skin(1) 2 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) CTGGTGGCTTCCAGTGGAAAA 0.552 NaN OREG0018081 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.011902 0 41 164 SUMF2 25870 broad.mit.edu 37 7 56141899 56141899 + Silent SNP A A G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr7:56141899A>G uc003trv.2 + 4 460 c.429A>G c.(427-429)GCA>GCG p.A143A PSPH_uc003trj.2_Intron|SUMF2_uc011kcv.1_RNA|SUMF2_uc011kcw.1_Silent_p.A143A|SUMF2_uc011kcx.1_Silent_p.A143A|SUMF2_uc003trt.2_Silent_p.A36A|SUMF2_uc011kcy.1_Intron|SUMF2_uc011kcz.1_Intron|SUMF2_uc003tru.2_RNA|SUMF2_uc011kda.1_Intron|SUMF2_uc003trx.2_Intron NM_001130069 NP_001123541 Q8NBJ7 SUMF2_HUMAN sulfatase modifying factor 2 isoform e 124 endoplasmic reticulum lumen metal ion binding ovary(1)|skin(1) 2 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) TGGAAAAGGCATTTTGGAGGC 0.552 NaN OREG0018081 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.006999 0 37 156 SUMF2 25870 broad.mit.edu 37 7 56142308 56142308 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr7:56142308G>A uc003trv.2 + 5 502 c.471G>A c.(469-471)GAG>GAA p.E157E PSPH_uc003trj.2_Intron|SUMF2_uc011kcv.1_RNA|SUMF2_uc011kcw.1_Silent_p.E157E|SUMF2_uc011kcx.1_Intron|SUMF2_uc003trt.2_Silent_p.E50E|SUMF2_uc011kcy.1_Silent_p.E142E|SUMF2_uc011kcz.1_Intron|SUMF2_uc003tru.2_Intron|SUMF2_uc011kda.1_Intron|SUMF2_uc003trx.2_Intron NM_001130069 NP_001123541 Q8NBJ7 SUMF2_HUMAN sulfatase modifying factor 2 isoform e 138 endoplasmic reticulum lumen metal ion binding ovary(1)|skin(1) 2 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) GCATCCGAGAGAGACTGGAGC 0.597 NaN OREG0018081 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.001855 0 14 96 ASL 435 broad.mit.edu 37 7 65554627 65554627 + Nonsense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr7:65554627C>G uc003tuo.2 + 14 1118 c.1007C>G c.(1006-1008)TCA>TGA p.S336* ASL_uc003tup.2_Nonsense_Mutation_p.S336*|ASL_uc003tur.2_Nonsense_Mutation_p.S310*|ASL_uc003tuq.2_Nonsense_Mutation_p.S316* NM_000048 NP_000039 P04424 ARLY_HUMAN argininosuccinate lyase isoform 1 336 arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle cytosol argininosuccinate lyase activity breast(2) 2 L-Arginine(DB00125) TTTGAAGTGTCAGACACTATG 0.642 NaN 0 0 0 0.003163 0 14 53 SBDS 51119 broad.mit.edu 37 7 66456253 66456253 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr7:66456253C>T uc003tvm.1 - 4 679 c.495G>A c.(493-495)ATG>ATA p.M165I NM_016038 NP_057122 Q9Y3A5 SBDS_HUMAN Shwachman-Bodian-Diamond syndrome protein 165 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 GTTCTATCTTCATTTTCTCTT 0.368 NaN Gene Conversion AML|MDS Shwachman-Diamond_syndrome 0 0 0 0.00632 0 25 55 STAG3L4 64940 broad.mit.edu 37 7 66771042 66771042 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr7:66771042C>G uc003tvt.3 + 2 326 c.59C>G c.(58-60)ACT>AGT p.T20S STAG3L4_uc010laj.2_RNA NM_022906 NP_075057 Q8TBR4 STG34_HUMAN stromal antigen 3-like 4 20 0 Lung NSC(55;0.0839)|all_lung(88;0.181) AGCTTGTTAACTTTTTCATCT 0.368 NaN 0 0 0 0.009718 0 40 201 WBSCR22 114049 broad.mit.edu 37 7 73107716 73107716 + Missense_Mutation SNP G G T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr7:73107716G>T uc003tyt.2 + 8 626 c.568G>T c.(568-570)GAC>TAC p.D190Y WBSCR22_uc010lbi.1_RNA|WBSCR22_uc003tyu.2_Missense_Mutation_p.D190Y|WBSCR22_uc003tyv.2_Missense_Mutation_p.D152Y|WBSCR22_uc003tyw.1_Missense_Mutation_p.D53Y NM_017528 NP_059998 O43709 WBS22_HUMAN Williams Beuren syndrome chromosome region 22 190 nucleus methyltransferase activity 0 Lung NSC(55;0.0908)|all_lung(88;0.198) CATGGTGGTAGACTACCCTAA 0.602 NaN 1 0 0.00198382 0.001984 0.00201257 7 12 TMEM120A 83862 broad.mit.edu 37 7 75617097 75617097 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr7:75617097C>G uc003ued.2 - 10 827 c.723G>C c.(721-723)CAG>CAC p.Q241H TMEM120A_uc003uee.2_Missense_Mutation_p.E180Q|TMEM120A_uc003ueb.1_Missense_Mutation_p.Q27H|TMEM120A_uc003uec.2_Missense_Mutation_p.Q145H NM_031925 NP_114131 Q9BXJ8 T120A_HUMAN transmembrane protein 120A 241 Cytoplasmic (Potential). integral to membrane 0 GGCAGCCGCTCTGGTAGTAGT 0.687 NaN 0 0 0 0.009096 0 3 8 PTPN12 5782 broad.mit.edu 37 7 77247848 77247848 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr7:77247848G>A uc003ugh.2 + 12 1082 c.991G>A c.(991-993)GAT>AAT p.D331N PTPN12_uc011kgp.1_Missense_Mutation_p.D212N|PTPN12_uc011kgq.1_Missense_Mutation_p.D201N|PTPN12_uc010lds.2_Missense_Mutation_p.D63N NM_002835 NP_002826 Q05209 PTN12_HUMAN protein tyrosine phosphatase, non-receptor type 331 soluble fraction non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding ovary(1)|breast(1)|pancreas(1) 3 TGAAAAACAAGATTCTCCTCC 0.348 NaN 0 0 0 0.003271 0 34 99 PHTF2 57157 broad.mit.edu 37 7 77539723 77539723 + Nonsense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr7:77539723C>G uc003ugs.3 + 8 899 c.773C>G c.(772-774)TCA>TGA p.S258* PHTF2_uc003ugo.3_Nonsense_Mutation_p.S220*|PHTF2_uc003ugp.2_Nonsense_Mutation_p.S220*|PHTF2_uc003ugq.3_Nonsense_Mutation_p.S220*|PHTF2_uc010ldv.2_Nonsense_Mutation_p.S220*|PHTF2_uc003ugr.3_Nonsense_Mutation_p.S224*|PHTF2_uc003ugt.3_Nonsense_Mutation_p.S224*|PHTF2_uc003ugu.3_Nonsense_Mutation_p.S220*|PHTF2_uc003ugv.2_Nonsense_Mutation_p.S83*|PHTF2_uc010ldw.1_Nonsense_Mutation_p.S83* NM_001127357 NP_001120829 Q8N3S3 PHTF2_HUMAN putative homeodomain transcription factor 2 258 regulation of transcription, DNA-dependent|transcription, DNA-dependent endoplasmic reticulum|nucleus DNA binding ovary(1) 1 TTCTTTTTATCAGGGTTTGTA 0.398 NaN 0 0 0 0.006122 0 17 21 MAGI2 9863 broad.mit.edu 37 7 78130895 78130895 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr7:78130895C>G uc003ugx.2 - 5 1218 c.964G>C c.(964-966)GAC>CAC p.D322H MAGI2_uc003ugy.2_Missense_Mutation_p.D322H|MAGI2_uc011kgr.1_Missense_Mutation_p.D154H|MAGI2_uc011kgs.1_Missense_Mutation_p.D159H NM_012301 NP_036433 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ 322 WW 1.|Interaction with DDN. cell junction|synapse|synaptosome phosphatase binding ovary(5)|lung(4)|breast(1)|skin(1) 11 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) GAAACTCACTCAATGAAGTAG 0.383 NaN 0 0 0 0.006122 0 17 74 PCLO 27445 broad.mit.edu 37 7 82582282 82582282 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr7:82582282G>C uc003uhx.2 - 5 8276 c.7987C>G c.(7987-7989)CCC>GCC p.P2663A PCLO_uc003uhv.2_Missense_Mutation_p.P2663A|PCLO_uc010lec.2_5'Flank NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 2594 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 ACTGATGTGGGAGCTGCTTGA 0.443 NaN 0 0 0 0.00874 0 35 24 SEMA3D 223117 broad.mit.edu 37 7 84702367 84702367 + Nonsense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr7:84702367G>A uc003uic.2 - 4 446 c.406C>T c.(406-408)CAG>TAG p.Q136* SEMA3D_uc010led.2_Nonsense_Mutation_p.Q136*|SEMA3D_uc010lee.1_Nonsense_Mutation_p.Q136* NM_152754 NP_689967 O95025 SEM3D_HUMAN semaphorin 3D precursor 136 Sema. cell differentiation|nervous system development extracellular region|membrane receptor activity ovary(3)|large_intestine(2) 5 TTATAGGGCTGAAGTACTCTG 0.348 NaN 0 0 0 0.012319 0 20 61 STEAP4 79689 broad.mit.edu 37 7 87912268 87912268 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr7:87912268G>C uc003ujs.2 - 3 777 c.672C>G c.(670-672)ATC>ATG p.I224M STEAP4_uc010lek.2_Intron|STEAP4_uc003ujt.2_Missense_Mutation_p.I224M NM_024636 NP_078912 Q687X5 STEA4_HUMAN tumor necrosis factor, alpha-induced protein 9 224 fat cell differentiation|ion transport|iron ion homeostasis Golgi membrane|integral to membrane|plasma membrane electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity 0 Esophageal squamous(14;0.00802) CATAAGGGTAGATTACGTCTC 0.383 NaN 0 0 0 0.003163 0 15 75 STEAP2 261729 broad.mit.edu 37 7 89854699 89854699 + Silent SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr7:89854699G>C uc003ujz.2 + 2 696 c.303G>C c.(301-303)CTG>CTC p.L101L STEAP2_uc003ujy.2_Silent_p.L143L|STEAP2_uc010len.2_Silent_p.L101L|STEAP2_uc003uka.2_Silent_p.L101L|STEAP2_uc003ukb.2_Silent_p.L101L|STEAP2_uc003ukc.2_Silent_p.L101L|STEAP2_uc003ukd.2_Silent_p.L101L NM_152999 NP_694544 Q8NFT2 STEA2_HUMAN six transmembrane epithelial antigen of the 101 electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity ovary(2) 2 all_hematologic(106;0.112) ATACCTCCCTGTGGGACCTGA 0.378 NaN 0 0 0 0.011902 0 45 158 CDK14 5218 broad.mit.edu 37 7 90528612 90528612 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr7:90528612G>A uc003uky.2 + 7 868 c.646G>A c.(646-648)GAT>AAT p.D216N CDK14_uc003ukz.1_Missense_Mutation_p.D198N|CDK14_uc010les.1_Missense_Mutation_p.D170N|CDK14_uc011khl.1_Missense_Mutation_p.D87N NM_012395 NP_036527 O94921 CDK14_HUMAN PFTAIRE protein kinase 1 216 Protein kinase. cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane ATP binding|cyclin binding|cyclin-dependent protein kinase activity lung(3)|ovary(1) 4 CTAGCACACTGATTTATGTCA 0.363 NaN 0 0 0 0.013537 0 12 31 FZD1 8321 broad.mit.edu 37 7 90894810 90894810 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr7:90894810C>T uc003ula.2 + 1 1028 c.615C>T c.(613-615)TTC>TTT p.F205F NM_003505 NP_003496 Q9UP38 FZD1_HUMAN frizzled 1 precursor 205 FZ.|Extracellular (Potential). autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding 0 all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215) STAD - Stomach adenocarcinoma(171;0.0134) TGAACAAGTTCGGCTTCCAGT 0.692 NaN 0 0 0 0.001855 0 13 28 AKAP9 10142 broad.mit.edu 37 7 91630771 91630771 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr7:91630771G>A uc003ulg.2 + 8 1765 c.1540G>A c.(1540-1542)GAA>AAA p.E514K AKAP9_uc003ule.2_Missense_Mutation_p.E526K|AKAP9_uc003ulf.2_Missense_Mutation_p.E514K|AKAP9_uc003uli.2_Missense_Mutation_p.E139K NM_005751 NP_005742 Q99996 AKAP9_HUMAN A-kinase anchor protein 9 isoform 2 526 Glu-rich.|Potential. G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1) 26 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) AAAACTCAAGGAAGAACTAGG 0.333 NaN T BRAF papillary thyroid 0 0 0 0.010504 0 21 83 AKAP9 10142 broad.mit.edu 37 7 91690664 91690664 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr7:91690664G>A uc003ulg.2 + 23 5917 c.5692G>A c.(5692-5694)GAA>AAA p.E1898K AKAP9_uc003ulf.2_Missense_Mutation_p.E1898K|AKAP9_uc003uli.2_Missense_Mutation_p.E1521K NM_005751 NP_005742 Q99996 AKAP9_HUMAN A-kinase anchor protein 9 isoform 2 1910 Potential.|Glu-rich. G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1) 26 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) GTGCCAAGAGGAACTTCGAGA 0.483 NaN T BRAF papillary thyroid 0 0 0 0.004289 0 37 40 SAMD9L 219285 broad.mit.edu 37 7 92762320 92762320 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr7:92762320G>A uc003umh.1 - 5 4181 c.2965C>T c.(2965-2967)CAC>TAC p.H989Y SAMD9L_uc003umj.1_Missense_Mutation_p.H989Y|SAMD9L_uc003umi.1_Missense_Mutation_p.H989Y|SAMD9L_uc010lfb.1_Missense_Mutation_p.H989Y|SAMD9L_uc003umk.1_Missense_Mutation_p.H989Y|SAMD9L_uc010lfc.1_Missense_Mutation_p.H989Y|SAMD9L_uc010lfd.1_Missense_Mutation_p.H989Y|SAMD9L_uc011khx.1_Intron NM_152703 NP_689916 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 989 ovary(4) 4 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) ATCAGAGGGTGAATGATACGC 0.358 NaN 0 0 0 0.007291 0 30 98 PPP1R9A 55607 broad.mit.edu 37 7 94540505 94540505 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr7:94540505G>A uc003unp.2 + 2 1362 c.1080G>A c.(1078-1080)CAG>CAA p.Q360Q PPP1R9A_uc010lfj.2_Silent_p.Q360Q|PPP1R9A_uc011kif.1_Silent_p.Q360Q|PPP1R9A_uc003unq.2_Silent_p.Q360Q|PPP1R9A_uc011kig.1_Silent_p.Q360Q NM_017650 NP_060120 Q9ULJ8 NEB1_HUMAN protein phosphatase 1, regulatory (inhibitor) 360 cell junction|synapse|synaptosome actin binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09) STAD - Stomach adenocarcinoma(171;0.0031) CAAAGCAACAGAGGAAAGAAC 0.438 NaN HNSCC(28;0.073) 0 0 0 0.012213 0 34 26 TAC1 6863 broad.mit.edu 37 7 97362008 97362008 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr7:97362008G>A uc003uop.3 + 2 330 c.84G>A c.(82-84)CTG>CTA p.L28L TAC1_uc003uoq.3_Silent_p.L28L|TAC1_uc003uor.3_Silent_p.L28L|TAC1_uc003uos.3_Silent_p.L28L NM_003182 NP_003173 P20366 TKN1_HUMAN tachykinin 1 isoform beta precursor 28 detection of abiotic stimulus|elevation of cytosolic calcium ion concentration|insemination|neuropeptide signaling pathway|synaptic transmission|tachykinin receptor signaling pathway extracellular space 0 all_cancers(62;3.95e-09)|all_epithelial(64;1.1e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0358)|all_lung(186;0.0384) Bacitracin(DB00626) ATGATGATCTGAATTACTGGT 0.532 NaN 0 0 0 0.00333 0 25 71 TRRAP 8295 broad.mit.edu 37 7 98528285 98528285 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr7:98528285C>T uc003upp.2 + 25 3632 c.3423C>T c.(3421-3423)ATC>ATT p.I1141I TRRAP_uc011kis.1_Silent_p.I1141I|TRRAP_uc003upr.2_Silent_p.I833I NM_003496 NP_003487 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated 1141 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) TTTCTTACATCGTGGAGCGCC 0.433 NaN 0 0 0 0.01441 0 104 130 TRRAP 8295 broad.mit.edu 37 7 98581886 98581886 + Missense_Mutation SNP A A G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr7:98581886A>G uc003upp.2 + 60 9414 c.9205A>G c.(9205-9207)ACT>GCT p.T3069A TRRAP_uc011kis.1_Missense_Mutation_p.T3040A|TRRAP_uc003upr.2_Missense_Mutation_p.T2757A NM_003496 NP_003487 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated 3069 FAT. 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) TACTATTCCAACTGTTCCTAT 0.473 NaN 0 0 0 0.00874 0 38 126 PTCD1 26024 broad.mit.edu 37 7 99021515 99021515 + Silent SNP C C A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr7:99021515C>A uc003uqh.2 - 7 1934 c.1803G>T c.(1801-1803)CTG>CTT p.L601L PTCD1_uc011kiw.1_Silent_p.L650L NM_015545 NP_056360 O75127 PTCD1_HUMAN pentatricopeptide repeat domain 1 601 PPR 9. ovary(1) 1 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) AGGTGTAGTTCAGCTTCCTGA 0.527 NaN 1 0 7.92952e-12 0.003954 8.28857e-12 26 71 CPSF4 10898 broad.mit.edu 37 7 99048377 99048377 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr7:99048377C>T uc003uqj.2 + 5 599 c.456C>T c.(454-456)CTC>CTT p.L152L PTCD1_uc011kiw.1_Intron|CPSF4_uc003uqi.2_Silent_p.L152L|CPSF4_uc003uqk.2_Silent_p.L152L|CPSF4_uc011kix.1_Silent_p.L99L NM_006693 NP_006684 O95639 CPSF4_HUMAN cleavage and polyadenylation specific factor 4, 152 C3H1-type 5. 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) TGAATTACCTCGTGGGATTCT 0.617 NaN 0 0 0 0.012319 0 20 67 ZNF655 79027 broad.mit.edu 37 7 99170633 99170633 + Missense_Mutation SNP A A C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr7:99170633A>C uc003urh.2 + 3 1295 c.902A>C c.(901-903)AAA>ACA p.K301T ZNF655_uc010lga.2_Missense_Mutation_p.K336T|ZNF655_uc010lgc.2_Missense_Mutation_p.K336T|ZNF655_uc003urj.2_Missense_Mutation_p.K301T|ZNF655_uc003urk.2_Missense_Mutation_p.K138T|ZNF655_uc010lgd.2_Missense_Mutation_p.K138T NM_138494 NP_612503 Q8N720 ZN655_HUMAN zinc finger protein 655 isoform a 301 G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding|zinc ion binding ovary(1) 1 all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166) ACCAGAGCCAAATCTTACAAA 0.393 NaN 0 0 0 0.014323 0 22 79 CYP3A7 1551 broad.mit.edu 37 7 99305506 99305506 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr7:99305506G>C uc003uru.2 - 12 1450 c.1345C>G c.(1345-1347)CTC>GTC p.L449V ZNF498_uc003urn.2_RNA|CYP3A5_uc003urs.2_Intron|CYP3A5_uc010lgg.2_Intron NM_000765 NP_000756 P24462 CP3A7_HUMAN cytochrome P450, family 3, subfamily A, 449 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding ovary(1) 1 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) ATGTTCACGAGAGCAAACCTC 0.403 NaN 0 0 0 0.01441 0 112 110 C7orf47 221908 broad.mit.edu 37 7 100033913 100033913 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr7:100033913G>C uc003uuy.1 - 1 182 c.85C>G c.(85-87)CAA>GAA p.Q29E C7orf47_uc003uux.1_5'UTR NM_145030 NP_659467 Q8TAP8 CG047_HUMAN hypothetical protein LOC221908 29 Pro-rich. ovary(1) 1 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TGCGGGACTTGGGGCTCCGGG 0.677 NaN 0 0 0 0.001168 0 5 11 LRCH4 4034 broad.mit.edu 37 7 100180050 100180050 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr7:100180050C>T uc003uvj.2 - 2 306 c.253G>A c.(253-255)GAG>AAG p.E85K LRCH4_uc010lgz.2_RNA|LRCH4_uc003uvi.2_RNA|LRCH4_uc011kjx.1_RNA NM_002319 NP_002310 O75427 LRCH4_HUMAN leucine-rich repeats and calponin homology (CH) 85 LRR 2. nervous system development PML body protein binding large_intestine(1)|ovary(1) 2 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CACGCCGCCTCGGGCACCTCG 0.647 NaN 0 0 0 0.004007 0 16 23 PCOLCE 5118 broad.mit.edu 37 7 100201832 100201832 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr7:100201832C>T uc003uvo.2 + 3 653 c.455C>T c.(454-456)TCG>TTG p.S152L uc011kjy.1_5'Flank|PCOLCE_uc011kkb.1_Missense_Mutation_p.S152L|PCOLCE_uc010lhb.1_Intron|PCOLCE_uc003uvp.1_5'Flank NM_002593 NP_002584 Q15113 PCOC1_HUMAN procollagen C-endopeptidase enhancer 152 multicellular organismal development extracellular space collagen binding|heparin binding|peptidase activator activity 0 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) CGGGCCACCTCGGGCACTGGT 0.522 NaN 0 0 0 0.000602 0 4 33 ZAN 7455 broad.mit.edu 37 7 100391797 100391797 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr7:100391797C>T uc003uwj.2 + 45 8207 c.8042C>T c.(8041-8043)TCA>TTA p.S2681L ZAN_uc003uwk.2_Intron|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kke.1_Missense_Mutation_p.S629L NM_003386 NP_003377 Q9Y493 ZAN_HUMAN zonadhesin isoform 3 2681 VWFC 5.|Extracellular (Potential). binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2) 11 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) TGTGCCAGCTCACGGATCCTG 0.617 NaN 0 0 0 0.01441 0 49 34 SRRT 51593 broad.mit.edu 37 7 100478981 100478981 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr7:100478981C>T uc003uwy.2 + 4 466 c.198C>T c.(196-198)TTC>TTT p.F66F SRRT_uc010lhl.1_Silent_p.F66F|SRRT_uc003uxa.2_Silent_p.F66F|SRRT_uc003uwz.2_Silent_p.F66F NM_015908 NP_056992 Q9BXP5 SRRT_HUMAN arsenate resistance protein 2 isoform a 66 Arg-rich. cell proliferation|primary miRNA processing|response to arsenic-containing substance cytoplasm|nucleoplasm protein binding ovary(2) 2 GAGAGCGCTTCTCGCCACCTC 0.597 NaN 0 0 0 0.004656 0 23 34 SERPINE1 5054 broad.mit.edu 37 7 100773891 100773891 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr7:100773891G>A uc003uxt.2 + 3 609 c.461G>A c.(460-462)AGA>AAA p.R154K SERPINE1_uc011kkj.1_Missense_Mutation_p.R139K|SERPINE1_uc003uxu.1_5'Flank NM_000602 NP_000593 P05121 PAI1_HUMAN plasminogen activator inhibitor-1 isoform 1 154 angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen protease binding|serine-type endopeptidase inhibitor activity ovary(1)|lung(1)|central_nervous_system(1) 3 Lung NSC(181;0.136)|all_lung(186;0.182) Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013) GAGGTGGAGAGAGCCAGATTC 0.527 NaN 0 0 0 0.01441 0 120 124 VGF 7425 broad.mit.edu 37 7 100806760 100806760 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr7:100806760G>A uc003uxx.3 - 2 1583 c.1365C>T c.(1363-1365)CTC>CTT p.L455L NM_003378 NP_003369 O15240 VGF_HUMAN VGF nerve growth factor inducible precursor 455 response to cAMP extracellular space|transport vesicle growth factor activity 0 Lung NSC(181;0.168)|all_lung(186;0.215) ACAGCTCAATGAGGCTGTCGA 0.463 NaN 0 0 0 0.000602 0 5 10 MLL5 55904 broad.mit.edu 37 7 104752302 104752302 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr7:104752302C>G uc003vcm.2 + 27 4633 c.4099C>G c.(4099-4101)CAA>GAA p.Q1367E MLL5_uc010ljc.2_Missense_Mutation_p.Q1367E|MLL5_uc010ljf.1_Intron|MLL5_uc010ljg.2_Missense_Mutation_p.Q101E NM_182931 NP_891847 Q8IZD2 MLL5_HUMAN myeloid/lymphoid or mixed-lineage leukemia 5 1367 cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent MLL5-L complex|nuclear speck enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding ovary(2)|pancreas(1) 3 AATTCCTGCTCAAGCACACGG 0.408 NaN 0 0 0 0.00245 0 13 60 SRPK2 6733 broad.mit.edu 37 7 104782887 104782887 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr7:104782887C>T uc003vct.2 - 10 1265 c.1078G>A c.(1078-1080)GAA>AAA p.E360K SRPK2_uc003vcu.2_Missense_Mutation_p.E360K|SRPK2_uc003vcv.2_Missense_Mutation_p.E371K|SRPK2_uc003vcw.1_Missense_Mutation_p.E360K NM_182691 NP_872633 P78362 SRPK2_HUMAN serine/arginine-rich protein-specific kinase 2 360 Protein kinase. angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly cytoplasm|nucleolus 14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity central_nervous_system(3)|ovary(2)|upper_aerodigestive_tract(1) 6 TCATCTTTTTCAATGTTTTCT 0.393 NaN 0 0 0 0.012213 0 33 137 WNT2 7472 broad.mit.edu 37 7 116962989 116962989 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr7:116962989G>A uc003viz.2 - 1 355 c.55C>T c.(55-57)CTC>TTC p.L19F WNT2_uc003vja.2_5'UTR NM_003391 NP_003382 P09544 WNT2_HUMAN wingless-type MMTV integration site family 19 atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway cytoplasm|extracellular space|proteinaceous extracellular matrix cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity breast(2)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1) 7 all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109) STAD - Stomach adenocarcinoma(10;0.000512) LUSC - Lung squamous cell carcinoma(290;0.133) TCGGGGGTGAGCCAGGTCAAG 0.607 NaN 0 0 0 0.001168 0 5 25 C7orf58 79974 broad.mit.edu 37 7 120767150 120767150 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr7:120767150G>A uc003vjq.3 + 10 1588 c.1141G>A c.(1141-1143)GAG>AAG p.E381K C7orf58_uc003vjr.1_Missense_Mutation_p.E381K|C7orf58_uc003vjs.3_Missense_Mutation_p.E381K|C7orf58_uc003vjt.3_Missense_Mutation_p.E161K|C7orf58_uc010lkk.1_Missense_Mutation_p.E161K NM_024913 NP_079189 A4D0V7 CG058_HUMAN hypothetical protein LOC79974 isoform 1 381 endoplasmic reticulum ovary(4)|large_intestine(2)|skin(2)|pancreas(1) 9 all_neural(327;0.117) AAAGGTACACGAGCATTTAAA 0.289 NaN 0 0 0 0.00245 0 14 61 RNF133 168433 broad.mit.edu 37 7 122337916 122337916 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr7:122337916C>T uc003vkj.1 - 1 1293 c.1057G>A c.(1057-1059)GAG>AAG p.E353K CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron NM_139175 NP_631914 Q8WVZ7 RN133_HUMAN ring finger protein 133 353 endoplasmic reticulum membrane|integral to membrane ligase activity|zinc ion binding skin(1) 1 GGGTTCTCCTCCACATGGATT 0.408 NaN 0 0 0 0.01441 0 61 135 POT1 25913 broad.mit.edu 37 7 124482960 124482960 + Missense_Mutation SNP T T A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr7:124482960T>A uc003vlm.2 - 13 1665 c.1064A>T c.(1063-1065)AAA>ATA p.K355I POT1_uc011koe.1_RNA|POT1_uc003vlk.2_RNA|POT1_uc003vll.2_RNA|POT1_uc003vlo.2_Missense_Mutation_p.K224I|POT1_uc003vln.2_RNA NM_015450 NP_056265 Q9NUX5 POTE1_HUMAN protection of telomeres 1 isoform 1 355 DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase nuclear telomere cap complex|nucleoplasm DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity central_nervous_system(1) 1 TTGAGGAGCTTTTTGTTTCAA 0.353 NaN 0 0 0 0.006122 0 19 72 GCC1 79571 broad.mit.edu 37 7 127224211 127224211 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr7:127224211C>T uc003vma.2 - 1 1444 c.1026G>A c.(1024-1026)ATG>ATA p.M342I NM_024523 NP_078799 Q96CN9 GCC1_HUMAN Golgi coiled-coil protein 1 342 Potential. Golgi membrane|plasma membrane protein binding ovary(2) 2 TTACCTTTCTCATTTCCTGCT 0.443 NaN 0 0 0 0.007413 0 15 45 FAM71F2 346653 broad.mit.edu 37 7 128317717 128317717 + Silent SNP C C A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr7:128317717C>A uc003vnk.3 + 3 571 c.465C>A c.(463-465)CTC>CTA p.L155L FAM71F2_uc010llm.1_Silent_p.L146L|FAM71F2_uc003vnl.2_RNA|FAM71F2_uc010lln.1_RNA NM_001012454 NP_001012457 Q6NXP2 F71F2_HUMAN hypothetical protein LOC346653 isoform a 155 0 ATCTGAAGCTCCACGAAAAAC 0.502 NaN 1 0 1.15919e-05 0.008871 1.18429e-05 17 39 EXOC4 60412 broad.mit.edu 37 7 132990735 132990735 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr7:132990735C>T uc003vrk.2 + 4 611 c.576C>T c.(574-576)CTC>CTT p.L192L EXOC4_uc011kpo.1_Silent_p.L91L|EXOC4_uc003vri.2_Silent_p.L192L|EXOC4_uc003vrj.2_Silent_p.L192L NM_021807 NP_068579 Q96A65 EXOC4_HUMAN SEC8 protein isoform a 192 vesicle docking involved in exocytosis exocyst protein N-terminus binding ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1) 9 Esophageal squamous(399;0.129) ACTTGGTTCTCATAGATGAAC 0.488 NaN 0 0 0 0.003163 0 15 56 AKR1B1 231 broad.mit.edu 37 7 134135636 134135636 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr7:134135636C>T uc003vrp.1 - 3 327 c.253G>A c.(253-255)GAG>AAG p.E85K AKR1B1_uc003vrq.1_RNA NM_001628 NP_001619 P15121 ALDR_HUMAN aldo-keto reductase family 1, member B1 85 C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress cytosol|extracellular space|nucleus alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding ovary(3) 3 NADH(DB00157)|Sulindac(DB00605) AGGCCCTTCTCATGGTACGTG 0.562 NaN 0 0 0 0.00308 0 8 28 WDR91 29062 broad.mit.edu 37 7 134873230 134873230 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr7:134873230G>A uc003vsp.2 - 13 1898 c.1836C>T c.(1834-1836)TTC>TTT p.F612F WDR91_uc010lmq.2_Silent_p.F201F|WDR91_uc010lmr.2_Intron NM_014149 NP_054868 A4D1P6 WDR91_HUMAN WD repeat domain 91 612 WD 5. breast(2)|ovary(1)|skin(1) 4 CATCATAGCTGAACTCCACAG 0.443 NaN 0 0 0 0.003755 0 33 104 WDR91 29062 broad.mit.edu 37 7 134873240 134873240 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr7:134873240G>A uc003vsp.2 - 13 1888 c.1826C>T c.(1825-1827)TCT>TTT p.S609F WDR91_uc010lmq.2_Missense_Mutation_p.S198F|WDR91_uc010lmr.2_Intron NM_014149 NP_054868 A4D1P6 WDR91_HUMAN WD repeat domain 91 609 WD 5. breast(2)|ovary(1)|skin(1) 4 GAACTCCACAGAGTAGACCTC 0.483 NaN 0 0 0 0.004878 0 34 110 CNOT4 4850 broad.mit.edu 37 7 135123034 135123034 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr7:135123034G>C uc003vsv.1 - 2 353 c.46C>G c.(46-48)CTT>GTT p.L16V CNOT4_uc003vss.2_Missense_Mutation_p.L16V|CNOT4_uc011kpz.1_Missense_Mutation_p.L16V|CNOT4_uc003vst.2_Missense_Mutation_p.L16V|CNOT4_uc003vsu.1_Missense_Mutation_p.L16V|CNOT4_uc011kpy.1_Missense_Mutation_p.L16V NM_001008225 NP_001008226 O95628 CNOT4_HUMAN CCR4-NOT transcription complex, subunit 4 16 RING-type; degenerate. L->A,E: Abolishes interaction with E2 ubiquitin ligases. nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding 0 TCCATGCAAAGAGGGCACTCC 0.443 NaN 0 0 0 0.00278 0 24 22 NUP205 23165 broad.mit.edu 37 7 135329649 135329649 + Nonsense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr7:135329649C>T uc003vsw.2 + 40 5597 c.5566C>T c.(5566-5568)CAG>TAG p.Q1856* NUP205_uc003vsx.2_RNA NM_015135 NP_055950 Q92621 NU205_HUMAN nucleoporin 205kDa 1856 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 CTAGTTGTGTCAGTCTGTGAT 0.383 NaN 0 0 0 0.00632 0 29 99 CHRM2 1129 broad.mit.edu 37 7 136700170 136700170 + Silent SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr7:136700170C>G uc003vtf.1 + 4 1181 c.558C>G c.(556-558)GTC>GTG p.V186V CHRM2_uc003vtg.1_Silent_p.V186V|CHRM2_uc003vtj.1_Silent_p.V186V|CHRM2_uc003vtk.1_Silent_p.V186V|CHRM2_uc003vtl.1_Silent_p.V186V|CHRM2_uc003vtm.1_Silent_p.V186V|CHRM2_uc003vti.1_Silent_p.V186V|CHRM2_uc003vto.1_Silent_p.V186V|CHRM2_uc003vtn.1_Silent_p.V186V|uc003vtp.1_Intron NM_001006630 NP_001006631 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 186 Helical; Name=5; (By similarity). activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding ovary(4)|central_nervous_system(1) 5 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) ATGCTGCTGTCACCTTTGGTA 0.488 NaN 0 0 0 0.01441 0 57 60 DGKI 9162 broad.mit.edu 37 7 137262020 137262020 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr7:137262020G>C uc003vtt.2 - 17 1710 c.1709C>G c.(1708-1710)TCT>TGT p.S570C DGKI_uc003vtu.2_Missense_Mutation_p.S270C NM_004717 NP_004708 O75912 DGKI_HUMAN diacylglycerol kinase, iota 570 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(1)|kidney(1)|skin(1) 3 TAGGAAGTCAGAAAAAGCTGC 0.328 NaN 0 0 0 0.004672 0 3 26 LUC7L2 51631 broad.mit.edu 37 7 139083368 139083368 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr7:139083368G>A uc003vux.2 + 3 554 c.180G>A c.(178-180)CTG>CTA p.L60L LUC7L2_uc011kqs.1_Silent_p.L57L|LUC7L2_uc011kqt.1_Silent_p.L126L|LUC7L2_uc003vuy.2_Silent_p.L59L|LUC7L2_uc003vuz.1_Silent_p.L7L|LUC7L2_uc003vva.2_Silent_p.L7L NM_016019 NP_057103 Q9Y383 LC7L2_HUMAN LUC7-like 2 60 enzyme binding|metal ion binding 0 Melanoma(164;0.242) GAGAATGTCTGAAAGTCCATG 0.308 NaN 0 0 0 0.01441 0 49 52 JHDM1D 80853 broad.mit.edu 37 7 139838913 139838913 + Missense_Mutation SNP G G T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr7:139838913G>T uc003vvm.2 - 2 276 c.272C>A c.(271-273)TCC>TAC p.S91Y NM_030647 NP_085150 Q6ZMT4 KDM7_HUMAN jumonji C domain containing histone demethylase 91 midbrain development|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding ovary(1) 1 Melanoma(164;0.0142) ACTCAAGGAGGAACCATGTAA 0.358 NaN 1 0 6.03168e-27 0.004878 6.39099e-27 38 98 RAB19 401409 broad.mit.edu 37 7 140125723 140125723 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr7:140125723G>C uc010lni.2 + 4 625 c.427G>C c.(427-429)GAG>CAG p.E143Q RAB19_uc011krc.1_Missense_Mutation_p.E143Q NM_001008749 NP_001008749 A4D1S5 RAB19_HUMAN RAB19, member RAS oncogene family 143 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding 0 Melanoma(164;0.0142) CGTCCTGTTCGAGGATGCCTG 0.468 NaN 0 0 0 0.010771 0 44 132 DENND2A 27147 broad.mit.edu 37 7 140301337 140301337 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr7:140301337G>A uc010lnj.2 - 1 1006 c.861C>T c.(859-861)ATC>ATT p.I287I DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Silent_p.I287I|DENND2A_uc003vvw.2_Silent_p.I287I|DENND2A_uc003vvx.2_Silent_p.I287I NM_015689 NP_056504 Q9ULE3 DEN2A_HUMAN DENN/MADD domain containing 2A 287 ovary(3)|breast(1) 4 Melanoma(164;0.00956) TCCTGAAGCCGATGCCAGGCT 0.378 NaN 0 0 0 0.01441 0 47 105 EPHB6 2051 broad.mit.edu 37 7 142564247 142564247 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr7:142564247G>A uc011kst.1 + 10 2258 c.1471G>A c.(1471-1473)GTC>ATC p.V491I EPHB6_uc011ksu.1_Missense_Mutation_p.V491I|EPHB6_uc003wbs.2_Missense_Mutation_p.V199I|EPHB6_uc003wbt.2_5'UTR|EPHB6_uc003wbu.2_Missense_Mutation_p.V199I|EPHB6_uc003wbv.2_5'Flank NM_004445 NP_004436 O15197 EPHB6_HUMAN ephrin receptor EphB6 precursor 491 Fibronectin type-III 2.|Extracellular (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) GCCCTCTGCTGTCCCTGTGGT 0.607 NaN 0 0 0 0.010729 0 11 43 OR2A5 393046 broad.mit.edu 37 7 143747957 143747957 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr7:143747957C>T uc011ktw.1 + 1 463 c.463C>T c.(463-465)CTG>TTG p.L155L NM_012365 NP_036497 Q96R48 OR2A5_HUMAN olfactory receptor, family 2, subfamily A, 155 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3) 3 Melanoma(164;0.0783) TGGTTCCCTTCTGGCCCTGGT 0.532 NaN 0 0 0 0.01441 0 62 166 NOBOX 135935 broad.mit.edu 37 7 144101707 144101707 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr7:144101707G>A uc011kue.1 - 2 152 c.152C>T c.(151-153)TCT>TTT p.S51F NM_001080413 NP_001073882 O60393 NOBOX_HUMAN NOBOX oogenesis homeobox 51 cell differentiation|oogenesis nucleus sequence-specific DNA binding ovary(1) 1 Melanoma(164;0.14) GGAGCTGAAAGAGCCACAGAC 0.463 NaN 0 0 0 0.007413 0 18 71 ZNF786 136051 broad.mit.edu 37 7 148771522 148771522 + Missense_Mutation SNP A A G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr7:148771522A>G uc003wfh.2 - 3 391 c.254T>C c.(253-255)GTT>GCT p.V85A ZNF786_uc011kuk.1_Missense_Mutation_p.V48A|ZNF786_uc003wfi.2_5'UTR NM_152411 NP_689624 Q8N393 ZN786_HUMAN zinc finger protein 786 85 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|skin(1) 4 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) ATGCATATCAACAGAGGAGCA 0.428 NaN 0 0 0 0.006214 0 10 40 AGAP3 116988 broad.mit.edu 37 7 150814758 150814758 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr7:150814758C>T uc003wjg.1 + 5 603 c.600C>T c.(598-600)TTC>TTT p.F200F AGAP3_uc003wje.1_5'UTR|AGAP3_uc003wjf.1_Silent_p.F200F|AGAP3_uc010lpy.1_Silent_p.F200F|AGAP3_uc003wjh.1_Silent_p.F380F NM_031946 NP_114152 Q96P47 AGAP3_HUMAN centaurin, gamma 3 isoform a 164 Small GTPase-like. 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 TGTTTGTGTTCAGCCTGGAGG 0.552 NaN 0 0 0 0.00623 0 40 129 GALNT11 63917 broad.mit.edu 37 7 151818704 151818704 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr7:151818704C>T uc010lqg.1 + 12 1999 c.1769C>T c.(1768-1770)TCT>TTT p.S590F GALNT11_uc011kvm.1_Missense_Mutation_p.S509F|GALNT11_uc003wku.2_Missense_Mutation_p.S590F NM_022087 NP_071370 Q8NCW6 GLT11_HUMAN N-acetylgalactosaminyltransferase 11 590 Lumenal (Potential).|Ricin B-type lectin. 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) CAGAAGGGCTCTGTCGCCATG 0.517 NaN 0 0 0 0.00499 0 18 41 RNF32 140545 broad.mit.edu 37 7 156437437 156437437 + Missense_Mutation SNP C C G rs138495614 TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr7:156437437C>G uc003wmo.2 + 3 442 c.260C>G c.(259-261)CCG>CGG p.P87R RNF32_uc010lql.1_RNA|RNF32_uc010lqm.2_Missense_Mutation_p.P87R|RNF32_uc003wmp.2_Missense_Mutation_p.P87R|RNF32_uc003wmq.2_Missense_Mutation_p.P87R|RNF32_uc003wmr.2_Missense_Mutation_p.P87R|RNF32_uc003wms.2_Missense_Mutation_p.P87R|RNF32_uc003wmu.2_RNA|RNF32_uc003wmt.2_Missense_Mutation_p.P87R NM_030936 NP_112198 Q9H0A6 RNF32_HUMAN ring finger protein 32 87 aggresome|endosome protein binding|zinc ion binding 0 Ovarian(565;0.218) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.00291) UCEC - Uterine corpus endometrioid carcinoma (81;0.169) CCCAAACCGCCGCCGTTGACT 0.348 NaN 0 0 0 0.003163 0 14 51 NOM1 64434 broad.mit.edu 37 7 156743173 156743173 + Missense_Mutation SNP G G A rs151324588 byFrequency TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr7:156743173G>A uc003wmy.2 + 1 757 c.742G>A c.(742-744)GAA>AAA p.E248K NM_138400 NP_612409 Q5C9Z4 NOM1_HUMAN nucleolar protein with MIF4G domain 1 248 Glu-rich.|Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus. RNA metabolic process nucleolus protein binding 0 Ovarian(565;0.218) all_hematologic(28;0.0749) OV - Ovarian serous cystadenocarcinoma(82;0.00301) UCEC - Uterine corpus endometrioid carcinoma (81;0.169) GACACTCCCCGAAAGTGACTT 0.338 NaN 0 0 0 0.003163 0 15 58 NOM1 64434 broad.mit.edu 37 7 156754887 156754887 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr7:156754887G>A uc003wmy.2 + 5 1690 c.1675G>A c.(1675-1677)GAC>AAC p.D559N NOM1_uc010lqp.1_Missense_Mutation_p.D8N NM_138400 NP_612409 Q5C9Z4 NOM1_HUMAN nucleolar protein with MIF4G domain 1 559 MIF4G. RNA metabolic process nucleolus protein binding 0 Ovarian(565;0.218) all_hematologic(28;0.0749) OV - Ovarian serous cystadenocarcinoma(82;0.00301) UCEC - Uterine corpus endometrioid carcinoma (81;0.169) GAAGAACAATGACATGCGCAA 0.438 NaN 0 0 0 0.01441 0 86 102 DEFA5 1670 broad.mit.edu 37 8 6914118 6914118 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr8:6914118C>T uc003wra.1 - 1 142 c.102G>A c.(100-102)CAG>CAA p.Q34Q NM_021010 NP_066290 Q01523 DEF5_HUMAN defensin, alpha 5 preproprotein 34 defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular space 0 COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121) CTTCCCCAGACTGCTTCTGGG 0.537 NaN 0 0 0 0.012213 0 33 25 RP1L1 94137 broad.mit.edu 37 8 10465561 10465561 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr8:10465561G>A uc003wtc.2 - 4 6276 c.6047C>T c.(6046-6048)GCC>GTC p.A2016V NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 2016 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) CTCTGGCTGGGCCTCCTCTTC 0.607 NaN 0 0 0 0.004878 0 37 57 SOX7 83595 broad.mit.edu 37 8 10583400 10583400 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr8:10583400G>A uc003wtf.2 - 2 1094 c.1015C>T c.(1015-1017)CCT>TCT p.P339S SOX7_uc011kwz.1_Missense_Mutation_p.P391S NM_031439 NP_113627 Q9BT81 SOX7_HUMAN SRY-box 7 339 Sox C-terminal. endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway cytoplasm|nucleus transcription regulatory region DNA binding breast(1) 1 COAD - Colon adenocarcinoma(149;0.0732) GGGTGGCCAGGAGTGTTCAAA 0.612 NaN 0 0 0 0.013537 0 12 13 MTMR7 9108 broad.mit.edu 37 8 17161949 17161949 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr8:17161949C>T uc003wxm.2 - 12 1671 c.1432G>A c.(1432-1434)GAT>AAT p.D478N MTMR7_uc003wxn.2_Missense_Mutation_p.D257N|MTMR7_uc011kya.1_Missense_Mutation_p.D112N|MTMR7_uc011kyb.1_Missense_Mutation_p.D69N NM_004686 NP_004677 Q9Y216 MTMR7_HUMAN myotubularin related protein 7 478 Myotubularin phosphatase. protein tyrosine phosphatase activity skin(1) 1 Colorectal(111;0.112) TGGCTGTGATCAGCTCTAAAC 0.418 NaN 0 0 0 0.009535 0 30 28 MTMR7 9108 broad.mit.edu 37 8 17198941 17198941 + Missense_Mutation SNP C C A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr8:17198941C>A uc003wxm.2 - 6 902 c.663G>T c.(661-663)CAG>CAT p.Q221H MTMR7_uc003wxn.2_5'UTR NM_004686 NP_004677 Q9Y216 MTMR7_HUMAN myotubularin related protein 7 221 Myotubularin phosphatase. protein tyrosine phosphatase activity skin(1) 1 Colorectal(111;0.112) CCTGGAGCATCTGCTCGTCCT 0.572 NaN 1 0 0.00185496 0.001855 0.00188537 14 13 FGL1 2267 broad.mit.edu 37 8 17722196 17722196 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr8:17722196C>T uc003wxx.2 - 9 1168 c.844G>A c.(844-846)GGG>AGG p.G282R FGL1_uc003wxy.2_Missense_Mutation_p.G282R|FGL1_uc003wxz.2_Missense_Mutation_p.G281R|FGL1_uc003wya.2_Missense_Mutation_p.G282R|FGL1_uc003wyb.2_Missense_Mutation_p.G282R|FGL1_uc003wyc.2_Missense_Mutation_p.G282R|FGL1_uc003wyd.2_RNA|FGL1_uc003wye.2_Missense_Mutation_p.G332R|FGL1_uc003wyf.2_Missense_Mutation_p.G252R NM_201553 NP_963847 Q08830 FGL1_HUMAN fibrinogen-like 1 precursor 282 Fibrinogen C-terminal. signal transduction fibrinogen complex receptor binding 0 Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215) CAGACAATCCCATTGTCTGTT 0.403 NaN 0 0 0 0.010729 0 11 10 PSD3 23362 broad.mit.edu 37 8 18725265 18725265 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr8:18725265G>C uc003wza.2 - 4 1656 c.1553C>G c.(1552-1554)TCT>TGT p.S518C NM_015310 NP_056125 Q9NYI0 PSD3_HUMAN ADP-ribosylation factor guanine nucleotide 518 regulation of ARF protein signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane ARF guanyl-nucleotide exchange factor activity ovary(3) 3 Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183) GACGCCACTAGAATAGCCCAT 0.527 NaN 0 0 0 0.008871 0 21 30 RHOBTB2 23221 broad.mit.edu 37 8 22864615 22864615 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr8:22864615C>G uc003xcq.2 + 5 1394 c.857C>G c.(856-858)TCC>TGC p.S286C RHOBTB2_uc003xcp.2_Missense_Mutation_p.S308C|RHOBTB2_uc011kzp.1_Missense_Mutation_p.S293C|uc003xcr.2_RNA NM_015178 NP_055993 Q9BYZ6 RHBT2_HUMAN Rho-related BTB domain containing 2 isoform 3 286 BTB 1. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding ovary(1)|lung(1) 2 Prostate(55;0.0513)|Breast(100;0.214) Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064) ATCTACCTCTCCACCTCTTCC 0.657 NaN 0 0 0 0.00632 0 26 23 PTK2B 2185 broad.mit.edu 37 8 27301724 27301724 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr8:27301724C>T uc003xfn.1 + 28 2958 c.2150C>T c.(2149-2151)CCC>CTC p.P717L PTK2B_uc003xfo.1_Missense_Mutation_p.P717L|PTK2B_uc003xfp.1_Missense_Mutation_p.P717L|PTK2B_uc003xfq.1_Missense_Mutation_p.P717L|PTK2B_uc003xfr.1_Missense_Mutation_p.P463L NM_173174 NP_775266 Q14289 FAK2_HUMAN PTK2B protein tyrosine kinase 2 beta isoform a 717 Pro-rich. apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity lung(3)|ovary(1)|skin(1) 5 Ovarian(32;2.72e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229) TCTCTCCAGCCCAGCCGACCT 0.537 NaN 0 0 0 0.006214 0 8 10 EPHX2 2053 broad.mit.edu 37 8 27361252 27361252 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr8:27361252C>T uc003xfu.2 + 3 399 c.318C>T c.(316-318)CTC>CTT p.L106L EPHX2_uc010lut.1_Silent_p.L106L|EPHX2_uc010luu.2_Silent_p.L106L|EPHX2_uc010luv.2_Silent_p.L40L|EPHX2_uc003xfv.2_Silent_p.L53L|EPHX2_uc010luw.2_Silent_p.L40L|EPHX2_uc011lam.1_5'Flank NM_001979 NP_001970 P34913 HYES_HUMAN epoxide hydrolase 2, cytoplasmic 106 Phosphatase. aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction epoxide hydrolase activity|metal ion binding|protein homodimerization activity ovary(1) 1 Ovarian(32;2.61e-05)|all_epithelial(46;0.207) UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157) Tamoxifen(DB00675) GCCCCATGCTCCAGGCAGCTC 0.507 NaN 0 0 0 0.00308 0 7 13 PROSC 11212 broad.mit.edu 37 8 37632915 37632915 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr8:37632915G>C uc003xkh.2 + 6 590 c.513G>C c.(511-513)AAG>AAC p.K171N NM_007198 NP_009129 O94903 PROSC_HUMAN proline synthetase co-transcribed homolog 171 pyridoxal phosphate binding central_nervous_system(1) 1 Lung NSC(58;0.174) BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) L-Proline(DB00172)|Pyridoxal Phosphate(DB00114) TAAACGCCAAGTGTCCTAACC 0.488 NaN 0 0 0 0.01441 0 48 76 ASH2L 9070 broad.mit.edu 37 8 37974186 37974186 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr8:37974186C>T uc003xkt.3 + 8 854 c.796C>T c.(796-798)CCT>TCT p.P266S ASH2L_uc011lbk.1_Missense_Mutation_p.P127S|ASH2L_uc003xku.3_Missense_Mutation_p.P172S|ASH2L_uc010lwa.2_Missense_Mutation_p.P172S NM_004674 NP_004665 Q9UBL3 ASH2L_HUMAN ash2-like isoform a 266 hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter Set1C/COMPASS complex metal ion binding|protein binding|transcription regulatory region DNA binding ovary(1)|lung(1) 2 Colorectal(12;0.000501) Lung NSC(58;0.0295)|all_lung(54;0.0413) TAACATTGGTCCTGCTTATGA 0.353 NaN 0 0 0 0.013726 0 31 43 WHSC1L1 54904 broad.mit.edu 37 8 38148131 38148131 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr8:38148131C>T uc003xli.2 - 17 3498 c.2980G>A c.(2980-2982)GAC>AAC p.D994N WHSC1L1_uc011lbm.1_Missense_Mutation_p.D994N|WHSC1L1_uc010lwe.2_Missense_Mutation_p.D945N NM_023034 NP_075447 Q9BZ95 NSD3_HUMAN WHSC1L1 protein isoform long 994 PWWP 2. cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome histone-lysine N-methyltransferase activity|zinc ion binding breast(1) 1 Colorectal(12;0.000442)|Esophageal squamous(3;0.0725) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065) Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511) TCCCCCAAGTCATGTTTAAGG 0.473 NaN T NUP98 AML 0 0 0 0.011902 0 47 161 C8orf86 389649 broad.mit.edu 37 8 38369913 38369913 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr8:38369913C>T uc003xlx.1 - 3 689 c.664G>A c.(664-666)GAA>AAA p.E222K NM_207412 NP_997295 Q6ZUL3 CH086_HUMAN hypothetical protein LOC389649 222 0 tcttaaacttcagcacacacc 0.219 NaN 0 0 0 0.006214 0 10 48 IKBKB 3551 broad.mit.edu 37 8 42129721 42129721 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr8:42129721C>G uc003xow.1 + 2 280 c.103C>G c.(103-105)CAG>GAG p.Q35E IKBKB_uc003xov.2_Missense_Mutation_p.Q35E|IKBKB_uc010lxh.1_Nonsense_Mutation_p.S24*|IKBKB_uc011lco.1_RNA|IKBKB_uc010lxj.1_Missense_Mutation_p.I7M|IKBKB_uc003xox.1_Translation_Start_Site|IKBKB_uc011lcp.1_RNA|IKBKB_uc011lcq.1_Intron|IKBKB_uc010lxi.1_RNA|IKBKB_uc011lcr.1_Missense_Mutation_p.I7M NM_001556 NP_001547 O14920 IKKB_HUMAN inhibitor of nuclear factor kappa B kinase beta 35 Protein kinase. anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft ATP binding|identical protein binding|IkappaB kinase activity breast(3)|ovary(2)|lung(1)|skin(1) 7 all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264) Arsenic trioxide(DB01169)|Auranofin(DB00995) ATGGCACAATCAGGTAGGCCC 0.607 NaN 0 0 0 0.003163 0 15 56 KIAA0146 23514 broad.mit.edu 37 8 48508407 48508407 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr8:48508407G>A uc003xqd.2 + 9 1141 c.1132G>A c.(1132-1134)GTT>ATT p.V378I KIAA0146_uc011lcz.1_RNA|KIAA0146_uc011lda.1_Missense_Mutation_p.V67I|KIAA0146_uc011ldb.1_Missense_Mutation_p.V378I|KIAA0146_uc010lxs.2_Intron|KIAA0146_uc011ldc.1_Missense_Mutation_p.V308I|KIAA0146_uc011ldd.1_Missense_Mutation_p.V318I|KIAA0146_uc003xqe.2_5'UTR|KIAA0146_uc003xqf.2_RNA|KIAA0146_uc011lde.1_Missense_Mutation_p.V67I|KIAA0146_uc010lxt.2_Missense_Mutation_p.V67I NM_001080394 NP_001073863 Q14159 K0146_HUMAN hypothetical protein LOC23514 378 0 Lung NSC(58;0.175) AAGTTGCCCTGTTATTCTGAA 0.388 NaN 0 0 0 0.01441 0 58 53 ATP6V1H 51606 broad.mit.edu 37 8 54742015 54742015 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr8:54742015C>T uc003xrl.2 - 4 447 c.295G>A c.(295-297)GAT>AAT p.D99N ATP6V1H_uc003xrk.2_Missense_Mutation_p.D59N|ATP6V1H_uc003xrm.2_Missense_Mutation_p.D99N|ATP6V1H_uc003xrn.2_Missense_Mutation_p.D99N|ATP6V1H_uc011ldv.1_Missense_Mutation_p.D19N|ATP6V1H_uc010lyd.2_Missense_Mutation_p.D35N NM_213620 NP_998785 Q9UI12 VATH_HUMAN ATPase, H+ transporting, lysosomal 50/57kDa, V1 99 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism 0 all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359) TGCAGCATATCATCCACCATA 0.318 NaN 0 0 0 0.006122 0 17 131 LYPLA1 10434 broad.mit.edu 37 8 54965251 54965251 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr8:54965251G>A uc003xry.2 - 7 620 c.426C>T c.(424-426)CTC>CTT p.L142L LYPLA1_uc011ldx.1_Intron|LYPLA1_uc003xrz.2_Silent_p.L121L NM_006330 NP_006321 O75608 LYPA1_HUMAN lysophospholipase 1 142 fatty acid metabolic process|nitric oxide metabolic process|regulation of nitric-oxide synthase activity cytosol lysophospholipase activity|palmitoyl-(protein) hydrolase activity central_nervous_system(1) 1 Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;8.48e-07)|Epithelial(17;9.29e-05)|all cancers(17;0.000689) GCCAGCAACTGAGTGCAGTGA 0.458 NaN 0 0 0 0.006214 0 8 46 MRPL15 29088 broad.mit.edu 37 8 55060079 55060079 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr8:55060079G>A uc003xsa.2 + 5 754 c.691G>A c.(691-693)GAA>AAA p.E231K NM_014175 NP_054894 Q9P015 RM15_HUMAN mitochondrial ribosomal protein L15 precursor 231 translation large ribosomal subunit|mitochondrion structural constituent of ribosome 0 Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458) CAAATTTCCTGAAGCACGACT 0.438 NaN 0 0 0 0.010504 0 20 121 XKR4 114786 broad.mit.edu 37 8 56015534 56015534 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr8:56015534C>T uc003xsf.2 + 1 518 c.486C>T c.(484-486)TTC>TTT p.F162F NM_052898 NP_443130 Q5GH76 XKR4_HUMAN XK, Kell blood group complex subunit-related 162 Helical; (Potential). integral to membrane pancreas(2) 2 Epithelial(17;0.000117)|all cancers(17;0.000836) TGCAAGTGTTCAGCTTCCGCT 0.652 NaN 0 0 0 0.008361 0 30 27 XKR4 114786 broad.mit.edu 37 8 56015540 56015540 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr8:56015540C>T uc003xsf.2 + 1 524 c.492C>T c.(490-492)TTC>TTT p.F164F NM_052898 NP_443130 Q5GH76 XKR4_HUMAN XK, Kell blood group complex subunit-related 164 Helical; (Potential). integral to membrane pancreas(2) 2 Epithelial(17;0.000117)|all cancers(17;0.000836) TGTTCAGCTTCCGCTGGTTTG 0.662 NaN 0 0 0 0.013537 0 11 40 NSMAF 8439 broad.mit.edu 37 8 59555592 59555592 + Nonsense_Mutation SNP C C A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr8:59555592C>A uc003xtt.2 - 2 314 c.100G>T c.(100-102)GAA>TAA p.E34* NSMAF_uc011lee.1_Nonsense_Mutation_p.E65*|NSMAF_uc003xtu.2_Nonsense_Mutation_p.E34* NM_003580 NP_003571 Q92636 FAN_HUMAN neutral sphingomyelinase (N-SMase) activation 34 ceramide metabolic process cytoplasm|soluble fraction protein binding|receptor signaling protein activity ovary(1) 1 all_lung(136;0.174)|Lung NSC(129;0.2) CTATGCTGTTCAAAGTAGTAC 0.393 NaN 1 0 3.07112e-06 0.010729 3.14652e-06 12 101 CYP7B1 9420 broad.mit.edu 37 8 65528701 65528701 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr8:65528701C>T uc003xvj.2 - 3 601 c.397G>A c.(397-399)GAC>AAC p.D133N NM_004820 NP_004811 O75881 CP7B1_HUMAN cytochrome P450, family 7, subfamily B, 133 bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity ovary(3) 3 all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215) TCATTCATGTCATGATTTTTT 0.318 NaN 0 0 0 0.008871 0 19 121 PDE7A 5150 broad.mit.edu 37 8 66631545 66631545 + Nonsense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr8:66631545G>A uc003xvq.2 - 13 1441 c.1429C>T c.(1429-1431)CAG>TAG p.Q477* MTFR1_uc003xvo.1_Intron|PDE7A_uc003xvp.2_Nonsense_Mutation_p.Q451* NM_002604 NP_002595 Q13946 PDE7A_HUMAN phosphodiesterase 7A isoform b 477 cell fraction|cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding 0 Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238) Dyphylline(DB00651)|Ketotifen(DB00920) CGATTTTCCTGAGGTAATAAC 0.478 NaN 0 0 0 0.003163 0 13 87 CRH 1392 broad.mit.edu 37 8 67089335 67089335 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr8:67089335G>A uc003xvy.1 - 2 563 c.378C>T c.(376-378)CTC>CTT p.L126L NM_000756 NP_000747 P06850 CRF_HUMAN corticotropin releasing hormone precursor 126 female pregnancy|negative regulation of circadian sleep/wake cycle, REM sleep|parturition|positive regulation of circadian sleep/wake cycle, wakefulness|positive regulation of cortisol secretion|signal transduction|synaptic transmission extracellular region|soluble fraction neuropeptide hormone activity 0 all_cancers(86;2.58e-06)|all_epithelial(80;6.27e-09)|all_lung(136;0.000414)|Lung NSC(129;0.0011) Epithelial(68;0.0136)|all cancers(69;0.0507)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) Corticotropin(DB01285) CGGGGCTGTCGAGCGAGCGCC 0.711 NaN OREG0018805 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.009096 0 4 5 VCPIP1 80124 broad.mit.edu 37 8 67576939 67576939 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr8:67576939C>T uc003xwn.2 - 1 2514 c.2255G>A c.(2254-2256)CGT>CAT p.R752H SGK3_uc003xwp.2_5'Flank|C8orf44_uc003xwo.1_5'Flank NM_025054 NP_079330 Q96JH7 VCIP1_HUMAN valosin containing protein (p97)/p47 complex 752 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) TGGACCATCACGAATGGTACT 0.448 NaN 0 0 0 0.004289 0 37 175 VCPIP1 80124 broad.mit.edu 37 8 67577466 67577466 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr8:67577466G>A uc003xwn.2 - 1 1987 c.1728C>T c.(1726-1728)TTC>TTT p.F576F SGK3_uc003xwp.2_5'Flank|C8orf44_uc003xwo.1_5'Flank NM_025054 NP_079330 Q96JH7 VCIP1_HUMAN valosin containing protein (p97)/p47 complex 576 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) AAAAGTGTTTGAATCCACAAC 0.433 NaN 0 0 0 0.01441 0 59 261 CSPP1 79848 broad.mit.edu 37 8 67976635 67976635 + Missense_Mutation SNP T T C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr8:67976635T>C uc003xxi.2 + 1 33 c.2T>C c.(1-3)ATG>ACG p.M1T CSPP1_uc003xxg.1_Missense_Mutation_p.M1T|CSPP1_uc003xxh.1_RNA|CSPP1_uc003xxj.2_Missense_Mutation_p.M1T|COPS5_uc003xxd.2_5'Flank|COPS5_uc003xxe.2_5'Flank|COPS5_uc003xxf.2_5'Flank|COPS5_uc010lyv.1_5'Flank NM_001077204 NP_001070672 Q1MSJ5 CSPP1_HUMAN centrosome spindle pole associated protein 1 1 centrosome|microtubule|spindle ovary(3)|breast(2) 5 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153) AGGTCTGTCATGCTGTTCCCG 0.721 NaN OREG0018811 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.000602 0 4 16 CPA6 57094 broad.mit.edu 37 8 68421789 68421789 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr8:68421789C>T uc003xxq.3 - 5 753 c.497G>A c.(496-498)GGA>GAA p.G166E CPA6_uc003xxr.3_Missense_Mutation_p.G18E|CPA6_uc003xxs.2_Missense_Mutation_p.G166E NM_020361 NP_065094 Q8N4T0 CBPA6_HUMAN carboxypeptidase A6 isoform 1 precursor 166 proteolysis proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding ovary(2) 2 Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136) ATATGATCTTCCAATAGAGAA 0.299 NaN 0 0 0 0.010818 0 29 147 PRDM14 63978 broad.mit.edu 37 8 70978524 70978524 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr8:70978524G>A uc003xym.2 - 5 1331 c.1129C>T c.(1129-1131)CCT>TCT p.P377S NM_024504 NP_078780 Q9GZV8 PRD14_HUMAN PR domain containing 14 377 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3) 3 Breast(64;0.193) Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405) AGGCTCACAGGAATATCCAGA 0.512 NaN 0 0 0 0.010504 0 20 112 RPL7 6129 broad.mit.edu 37 8 74205835 74205835 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr8:74205835C>T uc003xzg.2 - 1 35 c.13G>A c.(13-15)GAA>AAA p.E5K RPL7_uc003xzh.1_Intron|RDH10_uc003xzi.2_5'Flank NM_000971 NP_000962 P18124 RL7_HUMAN ribosomal protein L7 5 endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit DNA binding|mRNA binding|protein homodimerization activity|structural constituent of ribosome 0 Breast(64;0.0954) Epithelial(68;0.0193)|all cancers(69;0.0766)|BRCA - Breast invasive adenocarcinoma(89;0.134) GCAACTCACTCTACACCCTCC 0.502 NaN 0 0 0 0.000602 0 5 28 ZNF704 619279 broad.mit.edu 37 8 81582772 81582772 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr8:81582772C>T uc003yby.1 - 5 857 c.625G>A c.(625-627)GGT>AGT p.G209S NM_001033723 NP_001028895 Q6ZNC4 ZN704_HUMAN zinc finger protein 704 209 C2H2-type. intracellular zinc ion binding 0 all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06) BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277) TTCTGGATACCTGCTGCAGTG 0.507 NaN 0 0 0 0.007291 0 28 161 SLC10A5 347051 broad.mit.edu 37 8 82606862 82606862 + Missense_Mutation SNP C C T rs148561963 TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr8:82606862C>T uc011lfs.1 - 1 346 c.346G>A c.(346-348)GAA>AAA p.E116K NM_001010893 NP_001010893 Q5PT55 NTCP5_HUMAN solute carrier family 10 (sodium/bile acid 116 Extracellular (Potential). integral to membrane bile acid:sodium symporter activity 0 TTGATTTCTTCAATGAGTCTT 0.363 NaN 0 0 0 0.013114 0 41 183 DCAF4L2 138009 broad.mit.edu 37 8 88885315 88885315 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr8:88885315C>G uc003ydz.2 - 1 982 c.885G>C c.(883-885)AAG>AAC p.K295N NM_152418 NP_689631 Q8NA75 DC4L2_HUMAN WD repeat domain 21C 295 WD 1. ovary(1) 1 AGTCCCACAGCTTGATAGTTC 0.493 NaN 0 0 0 0.010729 0 12 81 RUNX1T1 862 broad.mit.edu 37 8 93017372 93017372 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr8:93017372C>T uc003yfd.2 - 5 796 c.712G>A c.(712-714)GAA>AAA p.E238K RUNX1T1_uc003yfc.1_Missense_Mutation_p.E211K|RUNX1T1_uc003yfe.1_Missense_Mutation_p.E201K|RUNX1T1_uc010mao.2_Missense_Mutation_p.E211K|RUNX1T1_uc011lgi.1_Missense_Mutation_p.E249K|RUNX1T1_uc003yfb.1_Missense_Mutation_p.E201K|RUNX1T1_uc003yff.1_Missense_Mutation_p.E201K NM_175634 NP_783552 Q06455 MTG8_HUMAN acute myelogenous leukemia 1 translocation 1 238 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) TTCCCGTTTTCGTTCACATCG 0.542 NaN 0 0 0 0.005443 0 26 170 PTDSS1 9791 broad.mit.edu 37 8 97274371 97274371 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr8:97274371G>A uc003yht.1 + 1 205 c.103G>A c.(103-105)GAC>AAC p.D35N MTERFD1_uc003yhs.1_5'Flank|MTERFD1_uc010mbd.1_5'Flank|PTDSS1_uc003yhu.1_5'UTR NM_014754 NP_055569 P48651 PTSS1_HUMAN phosphatidylserine synthase 1 35 phosphatidylserine biosynthetic process integral to membrane transferase activity ovary(1) 1 Breast(36;6.18e-05) Phosphatidylserine(DB00144) CATCACCATTGACTTCTTCTA 0.577 NaN 0 0 0 0.001855 0 12 57 PGCP 10404 broad.mit.edu 37 8 97797339 97797339 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr8:97797339G>C uc003yhw.2 + 2 380 c.214G>C c.(214-216)GAT>CAT p.D72H PGCP_uc010mbe.2_Missense_Mutation_p.D72H NM_016134 NP_057218 Q9Y646 PGCP_HUMAN plasma glutamate carboxypeptidase precursor 72 peptide metabolic process|proteolysis cytoplasm|extracellular space metal ion binding|metallocarboxypeptidase activity upper_aerodigestive_tract(1) 1 Breast(36;1.86e-05) ACTTCTGGTTGATACTGTTGG 0.453 NaN 0 0 0 0.00499 0 18 122 VPS13B 157680 broad.mit.edu 37 8 100454826 100454826 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr8:100454826G>A uc003yiv.2 + 23 3519 c.3408G>A c.(3406-3408)GAG>GAA p.E1136E VPS13B_uc003yiw.2_Silent_p.E1136E|VPS13B_uc003yiu.1_Silent_p.E1136E|VPS13B_uc003yix.1_Silent_p.E606E NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 1136 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) CTCTGCAGGAGATTCCATTTG 0.393 NaN 0 0 0 0.013537 0 13 52 VPS13B 157680 broad.mit.edu 37 8 100883099 100883099 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr8:100883099C>T uc003yiv.2 + 60 11665 c.11554C>T c.(11554-11556)CAT>TAT p.H3852Y VPS13B_uc003yiw.2_Missense_Mutation_p.H3827Y NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 3852 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) TCCAAACAGCCATGTCAAATA 0.433 NaN 0 0 0 0.006122 0 17 60 RNF19A 25897 broad.mit.edu 37 8 101300012 101300012 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr8:101300012C>T uc003yjj.1 - 3 708 c.391G>A c.(391-393)GAG>AAG p.E131K RNF19A_uc003yjk.1_Missense_Mutation_p.E131K|RNF19A_uc003yjl.1_Missense_Mutation_p.E131K NM_015435 NP_056250 Q9NV58 RN19A_HUMAN ring finger protein 19 131 microtubule cytoskeleton organization|protein modification process centrosome|integral to membrane ligase activity|transcription factor binding|zinc ion binding ovary(2)|central_nervous_system(1)|skin(1) 4 all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166) Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525) AAAGGGCACTCTATGAAGTCT 0.368 NaN 0 0 0 0.01441 0 61 231 YWHAZ 7534 broad.mit.edu 37 8 101932959 101932959 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr8:101932959C>G uc011lhe.1 - 6 877 c.700G>C c.(700-702)GGA>CGA p.G234R YWHAZ_uc003yjv.2_Missense_Mutation_p.G234R|YWHAZ_uc011lhf.1_Missense_Mutation_p.G234R|YWHAZ_uc003yjw.2_Missense_Mutation_p.G234R|YWHAZ_uc010mbq.2_Missense_Mutation_p.G157R|YWHAZ_uc011lhg.1_Missense_Mutation_p.G114R|YWHAZ_uc010mbr.2_Missense_Mutation_p.G234R|YWHAZ_uc003yjx.2_Missense_Mutation_p.G234R NM_001135702 NP_001129174 P63104 1433Z_HUMAN tyrosine 3/tryptophan 5 -monooxygenase 234 anti-apoptosis|mRNA metabolic process|platelet activation|signal transduction cytosol|melanosome transcription factor binding 0 all_cancers(14;7.43e-06)|all_epithelial(15;2.77e-08)|Lung NSC(17;6.08e-05)|all_lung(17;0.000197) Epithelial(11;2.79e-11)|all cancers(13;5.45e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.75e-05) Ginkgo biloba(DB01381) GCTTCGTCTCCTTGGGTATCC 0.458 NaN 0 0 0 0.00632 0 21 98 ATP6V1C1 528 broad.mit.edu 37 8 104080913 104080913 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr8:104080913C>G uc003ykz.3 + 13 1332 c.1087C>G c.(1087-1089)CAA>GAA p.Q363E ATP6V1C1_uc010mbz.2_Missense_Mutation_p.Q288E|ATP6V1C1_uc003yla.2_Missense_Mutation_p.Q363E|ATP6V1C1_uc011lhl.1_Missense_Mutation_p.Q288E NM_001695 NP_001686 P21283 VATC1_HUMAN ATPase, H+ transporting, lysosomal V1 subunit 363 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain protein binding|proton-transporting ATPase activity, rotational mechanism 0 Lung NSC(17;0.000427)|all_lung(17;0.000533) OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133) AAACCTGAGTCAACAAGAATA 0.368 NaN 0 0 0 0.006122 0 16 100 LRP12 29967 broad.mit.edu 37 8 105503092 105503092 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr8:105503092C>T uc003yma.2 - 7 2484 c.2389G>A c.(2389-2391)GAT>AAT p.D797N LRP12_uc003ymb.2_Missense_Mutation_p.D778N|LRP12_uc003ylz.2_Missense_Mutation_p.D203N NM_013437 NP_038465 Q9Y561 LRP12_HUMAN low density lipoprotein-related protein 12 797 Cytoplasmic (Potential). endocytosis|regulation of growth coated pit|integral to plasma membrane low-density lipoprotein receptor activity|protein binding 0 OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229) GAGGCAAGATCAAGAAGAGGT 0.443 NaN 0 0 0 0.003271 0 34 138 ZFPM2 23414 broad.mit.edu 37 8 106813421 106813421 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr8:106813421G>A uc003ymd.2 + 8 1134 c.1111G>A c.(1111-1113)GGC>AGC p.G371S ZFPM2_uc011lhs.1_Missense_Mutation_p.G102S|uc003yme.1_5'Flank NM_012082 NP_036214 Q8WW38 FOG2_HUMAN zinc finger protein, multitype 2 371 C2H2-type 3. blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding ovary(4)|large_intestine(1) 5 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) CTGCCATTTCGGCTTCCAGAC 0.512 NaN 0 0 0 0.01441 0 43 193 OXR1 55074 broad.mit.edu 37 8 107719112 107719112 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr8:107719112G>C uc011lht.1 + 8 1465 c.1366G>C c.(1366-1368)GAG>CAG p.E456Q OXR1_uc003ymf.2_Missense_Mutation_p.E455Q|OXR1_uc011lhu.1_Missense_Mutation_p.E448Q|OXR1_uc010mcg.2_Intron|OXR1_uc010mch.2_Missense_Mutation_p.E153Q|OXR1_uc003ymg.1_Missense_Mutation_p.E388Q|OXR1_uc003ymi.1_Missense_Mutation_p.E367Q NM_018002 NP_060472 Q8N573 OXR1_HUMAN oxidation resistance 1 isoform 1 456 cell wall macromolecule catabolic process|response to oxidative stress mitochondrion 0 OV - Ovarian serous cystadenocarcinoma(57;1.81e-09) TTTTCTTCATGAGAATTCGTT 0.353 NaN 0 0 0 0.01441 0 86 41 ANGPT1 284 broad.mit.edu 37 8 108509537 108509537 + Nonsense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr8:108509537G>A uc003ymn.2 - 1 718 c.250C>T c.(250-252)CAA>TAA p.Q84* ANGPT1_uc003ymo.2_Nonsense_Mutation_p.Q84* NM_001146 NP_001137 Q15389 ANGP1_HUMAN angiopoietin 1 precursor 84 Potential. activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway extracellular space|membrane raft|microvillus|plasma membrane receptor tyrosine kinase binding ovary(3)|skin(3)|upper_aerodigestive_tract(1) 7 Breast(1;5.06e-08) OV - Ovarian serous cystadenocarcinoma(57;5.53e-09) TCCAGATGTTGAAGTTTCTGG 0.448 NaN 0 0 0 0.009535 0 30 142 ANGPT1 284 broad.mit.edu 37 8 108509747 108509747 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr8:108509747G>A uc003ymn.2 - 1 508 c.40C>T c.(40-42)CTG>TTG p.L14L ANGPT1_uc003ymo.2_Silent_p.L14L NM_001146 NP_001137 Q15389 ANGP1_HUMAN angiopoietin 1 precursor 14 activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway extracellular space|membrane raft|microvillus|plasma membrane receptor tyrosine kinase binding ovary(3)|skin(3)|upper_aerodigestive_tract(1) 7 Breast(1;5.06e-08) OV - Ovarian serous cystadenocarcinoma(57;5.53e-09) ATGTGAGTCAGAATGGCAGCG 0.483 NaN 0 0 0 0.00308 0 8 51 CSMD3 114788 broad.mit.edu 37 8 113518955 113518955 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr8:113518955G>A uc003ynu.2 - 29 5019 c.4860C>T c.(4858-4860)GTC>GTT p.V1620V CSMD3_uc003yns.2_Silent_p.V892V|CSMD3_uc003ynt.2_Silent_p.V1580V|CSMD3_uc011lhx.1_Silent_p.V1516V NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1620 Extracellular (Potential).|CUB 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 AGTCTGCATTGACGGTGATAG 0.393 NaN HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 0 0 0 0.004656 0 26 124 UTP23 84294 broad.mit.edu 37 8 117782536 117782536 + Silent SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr8:117782536G>C uc003yoc.2 + 2 395 c.294G>C c.(292-294)GTG>GTC p.V98V NM_032334 NP_115710 Q9BRU9 UTP23_HUMAN UTP23, small subunit (SSU) processome component, 98 rRNA processing nucleolus 0 AGAATGCAGTGAGTGGATCAG 0.383 NaN 0 0 0 0.004656 0 27 124 HAS2 3037 broad.mit.edu 37 8 122629422 122629422 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr8:122629422C>G uc003yph.2 - 3 1190 c.652G>C c.(652-654)GAC>CAC p.D218H NM_005328 NP_005319 Q92819 HAS2_HUMAN hyaluronan synthase 2 218 Cytoplasmic (Potential). integral to plasma membrane hyaluronan synthase activity HAS2/PLAG1(10) soft_tissue(10)|ovary(5) 15 Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142) STAD - Stomach adenocarcinoma(47;0.00503) GAGGCTGGGTCAAGCATAGTG 0.393 NaN 0 0 0 0.004482 0 9 52 ZHX1 11244 broad.mit.edu 37 8 124266210 124266210 + Silent SNP C C A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr8:124266210C>A uc003yqe.2 - 3 2407 c.1977G>T c.(1975-1977)GGG>GGT p.G659G C8orf76_uc003yqd.2_Intron|ZHX1_uc003yqf.2_Silent_p.G659G|ZHX1_uc003yqg.2_Intron|ZHX1_uc010mdi.2_Silent_p.G659G NM_007222 NP_009153 Q9UKY1 ZHX1_HUMAN zinc fingers and homeoboxes 1 659 negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Lung NSC(37;1.25e-09)|Ovarian(258;0.0154) STAD - Stomach adenocarcinoma(47;0.00527) TGCCTGTACTCCCTGACTTAG 0.438 NaN 1 0 1.99824e-07 0.00499 2.05896e-07 16 161 EFR3A 23167 broad.mit.edu 37 8 132991170 132991170 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr8:132991170C>G uc003yte.2 + 13 1604 c.1403C>G c.(1402-1404)TCT>TGT p.S468C NM_015137 NP_055952 Q14156 EFR3A_HUMAN EFR3 homolog A 468 plasma membrane binding ovary(3)|breast(1)|central_nervous_system(1) 5 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102) TTATCACCATCTCTCATGGAG 0.443 NaN 0 0 0 0.003271 0 35 141 KHDRBS3 10656 broad.mit.edu 37 8 136554899 136554899 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr8:136554899C>G uc003yuv.2 + 3 604 c.210C>G c.(208-210)TTC>TTG p.F70L KHDRBS3_uc003yuw.2_Missense_Mutation_p.F70L NM_006558 NP_006549 O75525 KHDR3_HUMAN KH domain containing, RNA binding, signal 70 KH. regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus SH3 domain binding ovary(2) 2 all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.247) TTTCCTAGTTCAACTTTGTGG 0.363 NaN 0 0 0 0.01441 0 134 81 COL22A1 169044 broad.mit.edu 37 8 139648989 139648989 + Missense_Mutation SNP T T C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr8:139648989T>C uc003yvd.2 - 48 3998 c.3551A>G c.(3550-3552)GAT>GGT p.D1184G COL22A1_uc011ljo.1_Missense_Mutation_p.D464G NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1184 Pro-rich.|Gly-rich.|Collagen-like 11. cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) TTTTACCTGATCACCTTTCTG 0.413 NaN HNSCC(7;0.00092) 0 0 0 0.01441 0 66 342 ZNF623 9831 broad.mit.edu 37 8 144732386 144732386 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr8:144732386G>C uc003yzd.2 + 1 433 c.344G>C c.(343-345)AGA>ACA p.R115T ZNF623_uc011lkp.1_Missense_Mutation_p.R75T|ZNF623_uc003yzc.2_Missense_Mutation_p.R75T NM_014789 NP_055604 O75123 ZN623_HUMAN zinc finger protein 623 isoform 1 115 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion 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) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) CTGCTTCAGAGAGAGCTCATA 0.478 NaN 0 0 0 0.014323 0 18 146 SCRIB 23513 broad.mit.edu 37 8 144895820 144895820 + Missense_Mutation SNP C C G rs144081360 byFrequency TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr8:144895820C>G uc003yzp.1 - 4 440 c.433G>C c.(433-435)GGG>CGG p.G145R SCRIB_uc003yzo.1_Missense_Mutation_p.G145R|MIR937_hsa-mir-937|MI0005759_5'Flank NM_015356 NP_056171 Q14160 SCRIB_HUMAN scribble isoform b 145 Sufficient for targeting to adherens junction and to inhibit cell proliferation.|LRR 5. activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction cell-cell adherens junction|Scrib-APC-beta-catenin complex protein binding urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1) 5 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) CCCACGTCCCCGGGCAGTGCC 0.642 NaN 0 0 0 0.008291 0 9 49 PUF60 22827 broad.mit.edu 37 8 144898723 144898723 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr8:144898723C>T uc003yzs.2 - 12 1711 c.1647G>A c.(1645-1647)CAG>CAA p.Q549Q SCRIB_uc003yzo.1_5'Flank|SCRIB_uc003yzp.1_5'Flank|PUF60_uc003yzr.2_Silent_p.Q489Q|PUF60_uc003yzt.2_Silent_p.Q532Q|PUF60_uc003yzq.2_Silent_p.Q506Q NM_078480 NP_510965 Q9UHX1 PUF60_HUMAN poly-U binding splicing factor 60KDa isoform a 549 RRM 3; atypical.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction. apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent nucleus|ribonucleoprotein complex DNA binding|nucleotide binding|protein binding|RNA binding 0 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) CAAAACGCTCCTGGTCGTACA 0.532 NaN 0 0 0 0.01441 0 77 45 EPPK1 83481 broad.mit.edu 37 8 144940699 144940699 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr8:144940699C>T uc003zaa.1 - 2 14746 c.14733G>A c.(14731-14733)GAG>GAA p.E4911E NM_031308 NP_112598 P58107 EPIPL_HUMAN epiplakin 1 4911 Plectin 61. cytoplasm|cytoskeleton protein binding|structural molecule activity pancreas(1)|skin(1) 2 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TGCTCATCTTCTCCTGGCGGC 0.697 NaN 0 0 0 0.000602 0 5 83 PLEC 5339 broad.mit.edu 37 8 144991306 144991306 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr8:144991306G>A uc003zaf.1 - 32 13264 c.13094C>T c.(13093-13095)TCC>TTC p.S4365F PLEC_uc003zab.1_Missense_Mutation_p.S4228F|PLEC_uc003zac.1_Missense_Mutation_p.S4232F|PLEC_uc003zad.2_Missense_Mutation_p.S4228F|PLEC_uc003zae.1_Missense_Mutation_p.S4196F|PLEC_uc003zag.1_Missense_Mutation_p.S4206F|PLEC_uc003zah.2_Missense_Mutation_p.S4214F|PLEC_uc003zaj.2_Missense_Mutation_p.S4255F NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 4365 Globular 2. 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 CTCGGTGATGGAGAGCGTGCC 0.667 NaN 0 0 0 0.001168 0 6 33 PLEC 5339 broad.mit.edu 37 8 144997136 144997136 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr8:144997136C>T uc003zaf.1 - 31 7542 c.7372G>A c.(7372-7374)GAG>AAG p.E2458K PLEC_uc003zab.1_Missense_Mutation_p.E2321K|PLEC_uc003zac.1_Missense_Mutation_p.E2325K|PLEC_uc003zad.2_Missense_Mutation_p.E2321K|PLEC_uc003zae.1_Missense_Mutation_p.E2289K|PLEC_uc003zag.1_Missense_Mutation_p.E2299K|PLEC_uc003zah.2_Missense_Mutation_p.E2307K|PLEC_uc003zaj.2_Missense_Mutation_p.E2348K NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 2458 Central fibrous rod domain.|Potential. 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 CGCGTGGCCTCCTGCACCGCC 0.662 NaN 0 0 0 0.000602 0 4 9 CYC1 1537 broad.mit.edu 37 8 145151087 145151087 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr8:145151087C>T uc003zaz.3 + 3 430 c.387C>T c.(385-387)TTC>TTT p.F129F CYC1_uc003zay.2_Silent_p.F70F NM_001916 NP_001907 P08574 CY1_HUMAN cytochrome c-1 129 Cytochrome c. respiratory electron transport chain|transport cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding 0 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GCATGGACTTCGTGGCCTACC 0.612 NaN OREG0019052 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.01441 0 46 202 GPR172A 79581 broad.mit.edu 37 8 145583548 145583548 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr8:145583548C>T uc003zcc.1 + 3 553 c.396C>T c.(394-396)TTC>TTT p.F132F FBXL6_uc003zbz.2_5'Flank|FBXL6_uc003zca.2_5'Flank|FBXL6_uc003zcb.2_5'Flank|FBXL6_uc010mfx.2_5'Flank|GPR172A_uc003zcd.1_Silent_p.F132F|GPR172A_uc003zce.1_Silent_p.F132F|GPR172A_uc010mfy.1_Silent_p.F132F|GPR172A_uc003zcf.1_Silent_p.F132F|GPR172A_uc011llc.1_Silent_p.F44F NM_024531 NP_078807 Q9HAB3 RFT3_HUMAN G protein-coupled receptor 172A precursor 132 Helical; (Potential). integral to plasma membrane receptor activity|riboflavin transporter activity 0 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055) ATGTCACTTTCCTGCCCTTCT 0.602 NaN 0 0 0 0.007835 0 38 121 ADCK5 203054 broad.mit.edu 37 8 145616165 145616165 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr8:145616165G>A uc003zch.2 + 5 506 c.452G>A c.(451-453)GGG>GAG p.G151E ADCK5_uc003zcg.2_RNA|ADCK5_uc003zci.2_5'Flank NM_174922 NP_777582 Q3MIX3 ADCK5_HUMAN aarF domain containing kinase 5 151 integral to membrane protein serine/threonine kinase activity stomach(1) 1 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055) CTGGGCCAGGGGCTGTGCTCC 0.662 NaN 0 0 0 0.013537 0 11 39 FOXH1 8928 broad.mit.edu 37 8 145700598 145700598 + Missense_Mutation SNP T T C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr8:145700598T>C uc003zdc.2 - 2 800 c.221A>G c.(220-222)TAC>TGC p.Y74C NM_003923 NP_003914 O75593 FOXH1_HUMAN forkhead box H1 74 Fork-head. axial mesoderm development|blood vessel development|cell migration involved in gastrulation|embryonic heart tube anterior/posterior pattern formation|floor plate formation|heart looping|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|specification of organ position|transforming growth factor beta receptor signaling pathway activin responsive factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|R-SMAD binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding 0 all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.76e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) CCAGCCCTCGTAGTCTTCCCT 0.682 NaN 0 0 0 0.000602 0 5 17 ZNF251 90987 broad.mit.edu 37 8 145947214 145947214 + Missense_Mutation SNP G G T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr8:145947214G>T uc003zdv.3 - 5 2087 c.1831C>A c.(1831-1833)CAA>AAA p.Q611K NM_138367 NP_612376 Q9BRH9 ZN251_HUMAN zinc finger protein 251 611 C2H2-type 13. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11) GBM - Glioblastoma multiforme(99;0.198) ACCTGATGTTGAATAAGGGTT 0.478 NaN 1 0 3.05275e-18 0.013114 3.22672e-18 48 33 SMARCA2 6595 broad.mit.edu 37 9 2060921 2060921 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr9:2060921C>T uc003zhc.2 + 9 1726 c.1627C>T c.(1627-1629)CTG>TTG p.L543L SMARCA2_uc003zhd.2_Silent_p.L543L|SMARCA2_uc010mha.2_Silent_p.L534L NM_003070 NP_003061 P51531 SMCA2_HUMAN SWI/SNF-related matrix-associated 543 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) TCTGACCAATCTGGTTTGGGA 0.413 NaN 0 0 0 0.010729 0 11 56 SMARCA2 6595 broad.mit.edu 37 9 2060974 2060974 + Missense_Mutation SNP G G T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 G T G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr9:2060974G>T uc003zhc.2 + 9 1779 c.1680G>T c.(1678-1680)AGG>AGT p.R560S SMARCA2_uc003zhd.2_Missense_Mutation_p.R560S|SMARCA2_uc010mha.2_Missense_Mutation_p.R551S NM_003070 NP_003061 P51531 SMCA2_HUMAN SWI/SNF-related matrix-associated 560 Poly-Arg. 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) agaagaggaggaggaggaaga 0.418 NaN 1 0 5.45024e-15 0.00333 5.7246e-15 23 25 C9orf68 55064 broad.mit.edu 37 9 4661989 4661989 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr9:4661989G>A uc011llz.1 - 3 325 c.87C>T c.(85-87)CTC>CTT p.L29L C9orf68_uc003zik.2_RNA|C9orf68_uc003zil.2_RNA|C9orf68_uc010mhj.2_Silent_p.L29L|C9orf68_uc011lly.1_5'UTR|C9orf68_uc003zim.2_Silent_p.L29L|PPAPDC2_uc003zin.2_5'Flank NM_001039395 NP_001034484 B4DIY4 B4DIY4_HUMAN hypothetical protein LOC55064 29 0 Breast(48;0.0456) GBM - Glioblastoma multiforme(50;0.0222) GGTAGACCCCGAGGTACACAT 0.438 NaN OREG0019084 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.001984 0 7 50 KIAA1432 57589 broad.mit.edu 37 9 5745991 5745991 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr9:5745991G>A uc003zji.2 + 10 1012 c.919G>A c.(919-921)GAA>AAA p.E307K KIAA1432_uc003zjh.2_Missense_Mutation_p.E307K|KIAA1432_uc003zjl.3_Missense_Mutation_p.E307K|KIAA1432_uc003zjj.1_5'UTR NM_020829 NP_065880 Q4ADV7 RIC1_HUMAN connexin 43-interacting protein 150 isoform a 386 integral to membrane 0 Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122) TCAAAACACTGAAATTGAGTC 0.418 NaN 0 0 0 0.01441 0 77 86 KIAA2026 158358 broad.mit.edu 37 9 6007317 6007317 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr9:6007317G>A uc003zjq.3 - 1 687 c.471C>T c.(469-471)TTC>TTT p.F157F NM_001017969 NP_001017969 Q5HYC2 K2026_HUMAN hypothetical protein LOC158358 157 ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) AGTCCGCCACGAACTCGGTGA 0.637 NaN 0 0 0 0.003163 0 11 48 GLDC 2731 broad.mit.edu 37 9 6605254 6605254 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr9:6605254C>T uc003zkc.2 - 6 931 c.738G>A c.(736-738)CTG>CTA p.L246L NM_000170 NP_000161 P23378 GCSP_HUMAN glycine dehydrogenase (decarboxylating) 246 glycine catabolic process mitochondrion electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding ovary(2) 2 Acute lymphoblastic leukemia(23;0.161) GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) AGGGTAACTTCAGCTCAGTGA 0.433 NaN 0 0 0 0.001855 0 14 61 KDM4C 23081 broad.mit.edu 37 9 7174617 7174617 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr9:7174617G>C uc003zkh.2 + 22 3639 c.3059G>C c.(3058-3060)AGA>ACA p.R1020T KDM4C_uc011lmk.1_Missense_Mutation_p.R765T|KDM4C_uc011lml.1_Missense_Mutation_p.R707T NM_015061 NP_055876 Q9H3R0 KDM4C_HUMAN jumonji domain containing 2C isoform 1 1020 positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent nuclear chromatin androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding ovary(1) 1 CAAGGGGAGAGAAAGAGACAA 0.458 NaN 0 0 0 0.01441 0 142 57 C9orf123 90871 broad.mit.edu 37 9 7799696 7799696 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr9:7799696G>A uc003zki.2 - 1 83 c.39C>T c.(37-39)ATC>ATT p.I13I C9orf123_uc003zkj.2_Silent_p.I13I Q96GE9 CI123_HUMAN Homo sapiens cDNA FLJ46908 fis, clone FEBRA2004867. 13 integral to membrane 0 all_cancers(3;0.0539)|Lung NSC(3;3.36e-05)|all_lung(3;0.000156)|all_epithelial(3;0.0356) GBM - Glioblastoma multiforme(50;0.0561) GAGGCGCAGTGATATAGGACT 0.637 NaN 0 0 0 0.008871 0 21 7 MPDZ 8777 broad.mit.edu 37 9 13143491 13143491 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr9:13143491C>T uc010mia.1 - 26 3871 c.3814G>A c.(3814-3816)GAC>AAC p.D1272N MPDZ_uc010mhx.2_Intron|MPDZ_uc011lmm.1_Intron|MPDZ_uc003zkz.3_Intron|MPDZ_uc010mhy.2_Missense_Mutation_p.D1272N|MPDZ_uc010mhz.2_Intron|MPDZ_uc011lmn.1_Intron|MPDZ_uc003zlb.3_Missense_Mutation_p.D1272N NM_003829 NP_003820 O75970 MPDZ_HUMAN multiple PDZ domain protein 1272 interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding ovary(5)|central_nervous_system(1) 6 GBM - Glioblastoma multiforme(50;2.03e-06) TGTAGAGAGTCAGCAAATGGG 0.428 NaN 0 0 0 0.01441 0 82 52 DNAJA1 3301 broad.mit.edu 37 9 33026956 33026956 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr9:33026956G>A uc003zsd.1 + 3 461 c.278G>A c.(277-279)GGA>GAA p.G93E DNAJA1_uc011lnt.1_Intron|DNAJA1_uc003zse.1_Missense_Mutation_p.G93E|APTX_uc003zrz.2_5'Flank NM_001539 NP_001530 P31689 DNJA1_HUMAN DnaJ (Hsp40) homolog, subfamily A, member 1 93 Gly-rich. protein folding|response to heat|response to unfolded protein membrane ATP binding|heat shock protein binding|low-density lipoprotein particle receptor binding|metal ion binding|unfolded protein binding 0 LUSC - Lung squamous cell carcinoma(29;0.0227) GBM - Glioblastoma multiforme(74;0.102) ATGTTTTTTGGAGGAGGAGGA 0.438 NaN 0 0 0 0.01441 0 60 32 BAG1 573 broad.mit.edu 37 9 33264454 33264454 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr9:33264454C>T uc003zsj.2 - 1 308 c.219G>A c.(217-219)AAG>AAA p.K73K SUGT1P1_uc010mjq.1_Intron|BAG1_uc003zsi.2_5'UTR|BAG1_uc003zsk.2_5'UTR|CHMP5_uc003zsl.3_5'UTR|CHMP5_uc003zsm.3_5'Flank|CHMP5_uc011lnv.1_5'Flank NM_004323 NP_004314 Q99933 BAG1_HUMAN BCL2-associated athanogene isoform 1L 73 Arg-rich. anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|chaperone cofactor-dependent protein refolding cytoplasm|intermediate filament cytoskeleton|nucleus protein binding|receptor signaling protein activity ovary(1) 1 LUSC - Lung squamous cell carcinoma(29;0.00506) GGGTTTTCTTCTTCATCCGCG 0.701 NaN 0 0 0 0.00499 0 16 16 DCAF12 25853 broad.mit.edu 37 9 34125197 34125197 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr9:34125197G>A uc003ztt.2 - 2 499 c.157C>T c.(157-159)CGG>TGG p.R53W NM_015397 NP_056212 Q5T6F0 DCA12_HUMAN DDB1 and CUL4 associated factor 12 53 centrosome|CUL4 RING ubiquitin ligase complex 0 CTGACTTCCCGGTTCTTCAAG 0.453 NaN 0 0 0 0.01441 0 75 56 CCL21 6366 broad.mit.edu 37 9 34709845 34709845 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr9:34709845C>G uc003zvo.2 - 2 201 c.117G>C c.(115-117)AAG>AAC p.K39N NM_002989 NP_002980 O00585 CCL21_HUMAN small inducible cytokine A21 precursor 39 activation of Rho GTPase activity|cell maturation|cell-cell signaling|dendritic cell chemotaxis|dendritic cell dendrite assembly|establishment of T cell polarity|immune response|immunological synapse formation|inflammatory response|mesangial cell-matrix adhesion|negative regulation of leukocyte apoptosis|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of cell-matrix adhesion|positive regulation of dendritic cell antigen processing and presentation|positive regulation of ERK1 and ERK2 cascade|positive regulation of filopodium assembly|positive regulation of glycoprotein biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of myeloid dendritic cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of pseudopodium assembly|positive regulation of receptor-mediated endocytosis|release of sequestered calcium ion into cytosol|response to prostaglandin E stimulus|ruffle organization|T cell costimulation extracellular space CCR7 chemokine receptor binding|chemokine activity 0 all_epithelial(49;0.0899) STAD - Stomach adenocarcinoma(86;0.178) GBM - Glioblastoma multiforme(74;0.173) TGGCGGGAATCTTCCTTTGGC 0.592 NaN 0 0 0 0.01441 0 61 23 CREB3 10488 broad.mit.edu 37 9 35732998 35732998 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr9:35732998G>A uc003zxv.2 + 2 588 c.135G>A c.(133-135)CCG>CCA p.P45P TLN1_uc003zxt.2_5'Flank|TLN1_uc003zxu.3_5'Flank|CREB3_uc010mla.2_5'UTR NM_006368 NP_006359 O43889 CREB3_HUMAN cAMP responsive element binding protein 3 45 Cytoplasmic (Potential).|Transcription activation (acidic). chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|integral to membrane|nucleus|nucleus cAMP response element binding protein binding|CCR1 chemokine receptor binding|DNA binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity 0 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GBM - Glioblastoma multiforme(74;0.0285) CGCAGGTACCGAGCGACTGGG 0.562 NaN 0 0 0 0.01441 0 79 38 ZBTB5 9925 broad.mit.edu 37 9 37441574 37441574 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr9:37441574C>T uc003zzx.2 - 2 1175 c.975G>A c.(973-975)ATG>ATA p.M325I NM_014872 NP_055687 O15062 ZBTB5_HUMAN zinc finger and BTB domain containing 5 325 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226) CCACCACTCTCATGTGCTCCT 0.507 NaN 0 0 0 0.009535 0 28 169 DCAF10 79269 broad.mit.edu 37 9 37842126 37842126 + Missense_Mutation SNP A A T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr9:37842126A>T uc004aao.2 + 3 768 c.694A>T c.(694-696)ACT>TCT p.T232S DCAF10_uc010mlz.2_Missense_Mutation_p.T59S NM_024345 NP_077321 Q5QP82 DCA10_HUMAN WD repeat domain 32 232 WD 2. CUL4 RING ubiquitin ligase complex central_nervous_system(1) 1 CTCTGATGACACTACAATAGC 0.358 NaN 0 0 0 0.01441 0 97 49 PTAR1 375743 broad.mit.edu 37 9 72349085 72349085 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr9:72349085G>A uc004ahj.3 - 4 431 c.409C>T c.(409-411)CCA>TCA p.P137S PTAR1_uc004ahi.2_Missense_Mutation_p.P58S NM_001099666 NP_001093136 Q7Z6K3 PTAR1_HUMAN protein prenyltransferase alpha subunit repeat 137 PFTA 2. protein prenylation protein prenyltransferase activity central_nervous_system(1) 1 CATGTTTCTGGACTCTTTGGA 0.388 NaN 0 0 0 0.013726 0 35 40 SMC5 23137 broad.mit.edu 37 9 72930468 72930468 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr9:72930468G>A uc004ahr.2 + 13 1897 c.1780G>A c.(1780-1782)GAA>AAA p.E594K NM_015110 NP_055925 Q8IY18 SMC5_HUMAN SMC5 protein 594 Flexible hinge. DNA recombination|DNA repair chromosome|nucleus ATP binding ovary(2)|central_nervous_system(1) 3 TGTAGGAACTGAAAAGACCAG 0.353 NaN 0 0 0 0.01441 0 50 49 ALDH1A1 216 broad.mit.edu 37 9 75567869 75567869 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr9:75567869C>T uc004ajd.2 - 1 101 c.48G>A c.(46-48)TTG>TTA p.L16L ALDH1A1_uc011lsh.1_Intron NM_000689 NP_000680 P00352 AL1A1_HUMAN aldehyde dehydrogenase 1A1 16 cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process cytosol aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity ovary(3)|lung(1) 4 NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) ATTGAATCTTCAAATCGGTGA 0.403 NaN 0 0 0 0.003954 0 23 44 TRPM6 140803 broad.mit.edu 37 9 77354857 77354857 + Missense_Mutation SNP A A G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr9:77354857A>G uc004ajl.1 - 34 5507 c.5269T>C c.(5269-5271)TCT>CCT p.S1757P TRPM6_uc004ajk.1_Missense_Mutation_p.S1752P|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Missense_Mutation_p.S708P|TRPM6_uc010mpd.1_Missense_Mutation_p.S590P|TRPM6_uc010mpe.1_Missense_Mutation_p.S304P|TRPM6_uc004ajj.1_Missense_Mutation_p.S713P NM_017662 NP_060132 Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, 1757 Alpha-type protein kinase.|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 TGAGACCAAGAGGACATGCTT 0.493 NaN 0 0 0 0.004878 0 37 50 OSTF1 26578 broad.mit.edu 37 9 77732450 77732450 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr9:77732450C>T uc004ajv.3 + 2 276 c.65C>T c.(64-66)ACG>ATG p.T22M OSTF1_uc004ajw.3_Intron|OSTF1_uc004ajx.3_Missense_Mutation_p.T25M NM_012383 NP_036515 Q92882 OSTF1_HUMAN osteoclast stimulating factor 1 22 SH3. ossification|signal transduction cytoplasm identical protein binding skin(1) 1 GCCCTGTATACGTTTGAACCC 0.254 NaN 0 0 0 0.00245 0 14 96 GNA14 9630 broad.mit.edu 37 9 80262634 80262634 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr9:80262634G>A uc004aku.2 - 1 599 c.76C>T c.(76-78)CGT>TGT p.R26C NM_004297 NP_004288 O95837 GNA14_HUMAN G alpha 14 26 activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity ovary(2) 2 TTGTCCCGACGAAGCTGTCGC 0.657 NaN 0 0 0 0.009096 0 3 9 GNA14 9630 broad.mit.edu 37 9 80262682 80262682 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr9:80262682C>T uc004aku.2 - 1 551 c.28G>A c.(28-30)GAG>AAG p.E10K NM_004297 NP_004288 O95837 GNA14_HUMAN G alpha 14 10 activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity ovary(2) 2 TCCTTCTCCTCCGCGGACAGG 0.701 NaN 0 0 0 0.000602 0 4 7 TLE1 7088 broad.mit.edu 37 9 84202699 84202699 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr9:84202699G>C uc004aly.2 - 17 2315 c.1874C>G c.(1873-1875)TCT>TGT p.S625C TLE1_uc004alz.2_Missense_Mutation_p.S635C|TLE1_uc011lsr.1_Missense_Mutation_p.S610C NM_005077 NP_005068 Q04724 TLE1_HUMAN transducin-like enhancer protein 1 625 WD 4. negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway transcription factor binding ovary(1)|skin(1) 2 GCCATCATTAGAAATGTCAAT 0.532 NaN 0 0 0 0.013114 0 47 23 HNRNPK 3190 broad.mit.edu 37 9 86587870 86587870 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr9:86587870G>C uc004ang.3 - 10 758 c.534C>G c.(532-534)ATC>ATG p.I178M HNRNPK_uc011lsw.1_Translation_Start_Site|HNRNPK_uc004and.3_Translation_Start_Site|HNRNPK_uc004ank.3_Missense_Mutation_p.I178M|HNRNPK_uc004anf.3_Missense_Mutation_p.I178M|HNRNPK_uc004anh.3_Missense_Mutation_p.I154M|HNRNPK_uc011lsx.1_Missense_Mutation_p.I154M|HNRNPK_uc004ani.3_Missense_Mutation_p.I178M|HNRNPK_uc004anj.3_Missense_Mutation_p.I178M|HNRNPK_uc004ann.3_Missense_Mutation_p.I154M|HNRNPK_uc004anl.3_Missense_Mutation_p.I178M|HNRNPK_uc004anm.3_Missense_Mutation_p.I178M NM_031262 NP_112552 P61978 HNRPK_HUMAN heterogeneous nuclear ribonucleoprotein K 178 5 X 4 AA repeats of G-X-G-G.|Necessary for interaction with DDX1.|2 X 22 AA approximate repeats.|Interaction with ASFV p30.|KH 2. interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding skin(1) 1 GGAAAAGCTTGATGGTGGTTT 0.353 NaN 0 0 0 0.010504 0 21 95 SLC28A3 64078 broad.mit.edu 37 9 86912168 86912168 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr9:86912168C>T uc010mpz.2 - 8 954 c.829G>A c.(829-831)GAG>AAG p.E277K SLC28A3_uc011lsy.1_Missense_Mutation_p.E208K|SLC28A3_uc004anu.1_Missense_Mutation_p.E277K|SLC28A3_uc010mqb.2_Missense_Mutation_p.E208K NM_022127 NP_071410 Q9HAS3 S28A3_HUMAN concentrative Na+-nucleoside cotransporter 277 Extracellular (Potential). nucleobase, nucleoside and nucleotide metabolic process integral to membrane|plasma membrane nucleoside binding upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|skin(1) 4 TTGTATTTCTCACCAAAGACA 0.373 NaN 0 0 0 0.01441 0 52 43 ZCCHC6 79670 broad.mit.edu 37 9 88958054 88958054 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr9:88958054G>A uc004aoq.2 - 6 1237 c.1022C>T c.(1021-1023)TCA>TTA p.S341L ZCCHC6_uc011ltf.1_RNA|ZCCHC6_uc004aor.2_RNA|ZCCHC6_uc004aos.2_RNA|ZCCHC6_uc004aot.2_Missense_Mutation_p.S341L|ZCCHC6_uc004aou.2_Missense_Mutation_p.S341L|ZCCHC6_uc004aov.2_Missense_Mutation_p.S341L|ZCCHC6_uc004aow.2_Missense_Mutation_p.S341L NM_024617 NP_078893 Q5VYS8 TUT7_HUMAN zinc finger, CCHC domain containing 6 341 RNA 3'-end processing nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding ovary(2) 2 GCTACAGGATGACCCATATAA 0.299 NaN 0 0 0 0.00632 0 30 88 C9orf79 286234 broad.mit.edu 37 9 90500387 90500387 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr9:90500387C>T uc004app.3 + 4 1020 c.985C>T c.(985-987)CGG>TGG p.R329W C9orf79_uc004apo.1_Missense_Mutation_p.R141W NM_178828 NP_849150 Q6ZUB1 CI079_HUMAN chromosome 9 open reading frame 79 329 integral to membrane ovary(3) 3 ATCCCAGCCACGGCATCTTCC 0.617 NaN 0 0 0 0.010504 0 18 10 SEMA4D 10507 broad.mit.edu 37 9 91994364 91994364 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr9:91994364G>A uc004aqo.1 - 18 2416 c.1844C>T c.(1843-1845)TCA>TTA p.S615L SEMA4D_uc011ltm.1_Intron|SEMA4D_uc011ltn.1_Intron|SEMA4D_uc011lto.1_Intron|SEMA4D_uc004aqp.1_Missense_Mutation_p.S613L NM_006378 NP_006369 Q92854 SEM4D_HUMAN semaphorin 4D isoform 1 615 Ig-like C2-type.|Extracellular (Potential). anti-apoptosis|axon guidance|cell adhesion|immune response integral to membrane|plasma membrane receptor activity|receptor binding ovary(1)|pancreas(1) 2 GTCTCCTTCTGACAAGTTGAA 0.527 NaN 0 0 0 0.01441 0 302 175 GADD45G 10912 broad.mit.edu 37 9 92220696 92220696 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr9:92220696C>T uc004aqq.2 + 3 380 c.270C>T c.(268-270)ATC>ATT p.I90I GADD45G_uc004aqr.2_Silent_p.I72I NM_006705 NP_006696 O95257 GA45G_HUMAN growth arrest and DNA-damage-inducible, gamma 90 activation of MAPKKK activity|apoptosis|cell differentiation|DNA repair|multicellular organismal development protein binding 0 AGAACGACATCGACATAGTGC 0.647 NaN 0 0 0 0.001855 0 13 33 BICD2 23299 broad.mit.edu 37 9 95482795 95482795 + Silent SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr9:95482795G>C uc004aso.1 - 4 906 c.849C>G c.(847-849)CTC>CTG p.L283L BICD2_uc004asp.1_Silent_p.L283L NM_015250 NP_056065 Q8TD16 BICD2_HUMAN bicaudal D homolog 2 isoform 2 283 microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane Rab GTPase binding skin(1) 1 CACTGAACTTGAGGCCATCCA 0.577 NaN 0 0 0 0.00874 0 43 35 WNK2 65268 broad.mit.edu 37 9 96024958 96024958 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr9:96024958G>A uc004ati.1 + 13 3367 c.3367G>A c.(3367-3369)GCC>ACC p.A1123T WNK2_uc011lud.1_Missense_Mutation_p.A1123T|WNK2_uc004atj.2_Missense_Mutation_p.A1123T|WNK2_uc004atk.2_Missense_Mutation_p.A760T NM_006648 NP_006639 Q9Y3S1 WNK2_HUMAN WNK lysine deficient protein kinase 2 1123 intracellular protein kinase cascade ATP binding|protein binding|protein serine/threonine kinase activity lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1) 12 TCAGGAGCAGGCCTCACAGGA 0.637 NaN 0 0 0 0.001984 0 6 29 BARX1 56033 broad.mit.edu 37 9 96714549 96714549 + Nonsense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr9:96714549G>C uc010mrh.2 - 4 842 c.662C>G c.(661-663)TCA>TGA p.S221* BARX1_uc004aud.2_Nonsense_Mutation_p.S67* NM_021570 NP_067545 Q9HBU1 BARX1_HUMAN BARX homeobox 1 221 nuclear chromosome sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 CGTTGGAATTGAGTTCTTCTT 0.687 NaN 0 0 0 0.000602 0 5 16 C9orf156 51531 broad.mit.edu 37 9 100672824 100672824 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr9:100672824C>T uc004axv.1 - 4 561 c.484G>A c.(484-486)GAG>AAG p.E162K C9orf156_uc004axw.1_Missense_Mutation_p.E59K|C9orf156_uc004axx.1_Missense_Mutation_p.E16K|C9orf156_uc010msq.1_Missense_Mutation_p.E59K NM_016481 NP_057565 Q9BU70 NAP1_HUMAN Nef associated protein 1 162 interspecies interaction between organisms hydrolase activity 0 Acute lymphoblastic leukemia(62;0.158) GAGTCATACTCAGCTATGTAG 0.413 NaN 0 0 0 0.011902 0 44 28 COL15A1 1306 broad.mit.edu 37 9 101767278 101767278 + Silent SNP C C A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr9:101767278C>A uc004azb.1 + 9 1505 c.1299C>A c.(1297-1299)CCC>CCA p.P433P NM_001855 NP_001846 P39059 COFA1_HUMAN alpha 1 type XV collagen precursor 433 Nonhelical region 1 (NC1).|4 X tandem repeats.|2. angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding ovary(6) 6 Acute lymphoblastic leukemia(62;0.0562) GTGTGGCCCCCGGGGAGCTGG 0.627 NaN 1 0 0.004672 0.004672 0.0047375 3 70 ALG2 85365 broad.mit.edu 37 9 101980576 101980576 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr9:101980576C>T uc004azf.2 - 2 961 c.891G>A c.(889-891)GTG>GTA p.V297V ALG2_uc004azg.2_Silent_p.V204V NM_033087 NP_149078 Q9H553 ALG2_HUMAN alpha-1,3-mannosyltransferase ALG2 297 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in endoplasmic reticulum|protein N-linked glycosylation via asparagine|response to calcium ion endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein anchor|protein heterodimerization activity|protein N-terminus binding ovary(2) 2 Acute lymphoblastic leukemia(62;0.0559) TCAAGAAGGTCACATACTGGC 0.478 NaN 0 0 0 0.012319 0 22 90 CYLC2 1539 broad.mit.edu 37 9 105767772 105767772 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr9:105767772G>A uc004bbs.2 + 5 929 c.859G>A c.(859-861)GAT>AAT p.D287N NM_001340 NP_001331 Q14093 CYLC2_HUMAN cylicin 2 287 31 X 3 AA repeats of K-K-X. cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton skin(1) 1 all_hematologic(171;0.125) CTCAAAGGATgatgtcaagaa 0.234 NaN 0 0 0 0.007413 0 20 20 ABCA1 19 broad.mit.edu 37 9 107588035 107588035 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr9:107588035G>A uc004bcl.2 - 17 2784 c.2471C>T c.(2470-2472)TCG>TTG p.S824L NM_005502 NP_005493 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A member 1 824 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) CATGGAGACCGAAGTGGTGAG 0.498 NaN 0 0 0 0.01441 0 74 35 KIAA0368 23392 broad.mit.edu 37 9 114195538 114195538 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr9:114195538C>T uc004bfe.1 - 9 1357 c.1357G>A c.(1357-1359)GAC>AAC p.D453N KIAA0368_uc010muc.1_Missense_Mutation_p.D275N NM_001080398 NP_001073867 KIAA0368 protein 0 AATTCCAGGTCTGCTGCCGTT 0.413 NaN 0 0 0 0.008871 0 18 81 C9orf43 257169 broad.mit.edu 37 9 116187324 116187324 + Missense_Mutation SNP G G T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr9:116187324G>T uc004bho.3 + 9 1229 c.833G>T c.(832-834)CGT>CTT p.R278L C9orf43_uc004bhp.2_Missense_Mutation_p.R278L NM_152786 NP_689999 Q8TAL5 CI043_HUMAN hypothetical protein LOC257169 278 0 TATCCTGAACGTTTGAAGAAA 0.408 NaN 1 0 6.57855e-14 0.009718 6.89635e-14 43 46 COL27A1 85301 broad.mit.edu 37 9 116925054 116925054 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr9:116925054G>A uc011lxl.1 + 2 122 c.122G>A c.(121-123)GGA>GAA p.G41E NM_032888 NP_116277 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 precursor 41 cell adhesion extracellular matrix structural constituent ovary(3)|skin(1) 4 TCCACCCAAGGAGCTCCTGAA 0.557 NaN 0 0 0 0.01441 0 80 61 ATP6V1G1 9550 broad.mit.edu 37 9 117359915 117359915 + Silent SNP C C T rs112425042 TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr9:117359915C>T uc004bjc.2 + 3 374 c.249C>T c.(247-249)ATC>ATT p.I83I NM_004888 NP_004879 O75348 VATG1_HUMAN vacuolar H+ ATPase G1 83 cellular iron ion homeostasis|insulin receptor signaling pathway|proton transport|transferrin transport cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex ATPase binding|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances 0 AGATGACCATCCTCCAGACAT 0.512 NaN 0 0 0 0.00278 0 22 71 CEP110 11064 broad.mit.edu 37 9 123924225 123924225 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr9:123924225G>A uc004bkx.1 + 31 5212 c.5181G>A c.(5179-5181)GAG>GAA p.E1727E CEP110_uc004blb.1_Silent_p.E396E|CEP110_uc010mvp.1_Intron NM_007018 NP_008949 Q7Z7A1 CNTRL_HUMAN centrosomal protein 110kDa 1727 Potential. cell division|G2/M transition of mitotic cell cycle centrosome|cytosol protein binding 0 CTGAATTAGAGAAGACTCAGG 0.388 NaN 0 0 0 0.01441 0 57 52 RBM18 92400 broad.mit.edu 37 9 125023758 125023758 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr9:125023758G>A uc004bma.2 - 2 180 c.14C>T c.(13-15)ACC>ATC p.T5I RBM18_uc004blz.2_RNA|RBM18_uc010mvy.2_RNA|RBM18_uc011lyp.1_RNA NM_033117 NP_149108 Q96H35 RBM18_HUMAN RNA binding motif protein 18 5 nucleotide binding|RNA binding 0 AAGAGTTTTGGTTTCTGCTTC 0.448 NaN 0 0 0 0.005524 0 38 27 PPP6C 5537 broad.mit.edu 37 9 127915852 127915852 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr9:127915852C>T uc004bpg.3 - 6 850 c.629G>A c.(628-630)CGA>CAA p.R210Q PPP6C_uc010mwv.2_Missense_Mutation_p.R247Q|PPP6C_uc010mww.2_Missense_Mutation_p.R188Q|PPP6C_uc011lzr.1_Missense_Mutation_p.R63Q NM_002721 NP_002712 O00743 PPP6_HUMAN protein phosphatase 6, catalytic subunit isoform 210 G1/S transition of mitotic cell cycle|protein dephosphorylation cytosol metal ion binding|protein binding|protein serine/threonine phosphatase activity ovary(1)|skin(1) 2 ACCTGCTCCTCGGGGACTGAT 0.443 NaN 0 0 0 0.006214 0 10 71 GARNL3 84253 broad.mit.edu 37 9 130027210 130027210 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr9:130027210G>A uc011mae.1 + 1 455 c.54G>A c.(52-54)CTG>CTA p.L18L GARNL3_uc011mad.1_Intron NM_032293 NP_115669 Q5VVW2 GARL3_HUMAN GTPase activating Rap/RanGAP domain-like 3 18 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity|small GTPase regulator activity ovary(1)|central_nervous_system(1)|skin(1) 3 GTATAATACTGATGAAGCATT 0.453 NaN 0 0 0 0.011902 0 45 179 GARNL3 84253 broad.mit.edu 37 9 130083018 130083018 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr9:130083018G>A uc011mae.1 + 6 929 c.528G>A c.(526-528)GAG>GAA p.E176E GARNL3_uc011mad.1_Silent_p.E154E NM_032293 NP_115669 Q5VVW2 GARL3_HUMAN GTPase activating Rap/RanGAP domain-like 3 176 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity|small GTPase regulator activity ovary(1)|central_nervous_system(1)|skin(1) 3 ACAAATTTGAGAAAGGCCCCA 0.358 NaN 0 0 0 0.004482 0 8 62 ENG 2022 broad.mit.edu 37 9 130592029 130592029 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr9:130592029G>A uc004bsj.3 - 3 710 c.297C>T c.(295-297)CTC>CTT p.L99L ENG_uc011mam.1_5'UTR|ENG_uc004bsk.3_Silent_p.L99L NM_001114753 NP_001108225 P17813 EGLN_HUMAN endoglin isoform 1 precursor 99 Extracellular (Potential). artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing cell surface|external side of plasma membrane|extracellular space|membrane fraction activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding 0 TGTTTACACTGAGGACCAGAA 0.602 NaN Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia 0 0 0 0.004482 0 8 31 DNM1 1759 broad.mit.edu 37 9 130981398 130981398 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr9:130981398C>T uc011mau.1 + 4 543 c.456C>T c.(454-456)ATC>ATT p.I152I DNM1_uc010mxr.2_Silent_p.I152I|DNM1_uc011mat.1_Silent_p.I152I NM_004408 NP_004399 Q05193 DYN1_HUMAN dynamin 1 isoform 1 152 receptor-mediated endocytosis microtubule GTP binding|GTPase activity ovary(2) 2 CTCCCGACATCGAGTTCCAGA 0.617 NaN 0 0 0 0.003755 0 37 115 GOLGA2 2801 broad.mit.edu 37 9 131019547 131019547 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr9:131019547C>T uc011maw.1 - 26 2821 c.2808G>A c.(2806-2808)GTG>GTA p.V936V GOLGA2_uc010mxw.2_Silent_p.V259V|GOLGA2_uc004buh.2_Intron NM_004486 NP_004477 Q08379 GOGA2_HUMAN Golgi autoantigen, golgin subfamily a, 2 936 Golgi cisterna membrane protein binding ovary(1) 1 CGGCGAGGCTCACCTCGCAAA 0.637 NaN 0 0 0 0.00874 0 33 22 CERCAM 51148 broad.mit.edu 37 9 131197963 131197963 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr9:131197963G>A uc004buz.3 + 12 1965 c.1567G>A c.(1567-1569)GAC>AAC p.D523N CERCAM_uc004buy.1_Missense_Mutation_p.D445N|CERCAM_uc010mxz.2_Missense_Mutation_p.D445N NM_016174 NP_057258 Q5T4B2 GT253_HUMAN cerebral endothelial cell adhesion molecule 1 523 cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process endoplasmic reticulum lumen|plasma membrane pancreas(1) 1 CTGGCCACGGGACCTGGTGGC 0.657 NaN 0 0 0 0.001984 0 7 25 NUP188 23511 broad.mit.edu 37 9 131749135 131749135 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr9:131749135G>A uc004bws.1 + 22 2267 c.2245G>A c.(2245-2247)GAG>AAG p.E749K NUP188_uc004bwu.2_Missense_Mutation_p.E92K NM_015354 NP_056169 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 749 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1) 7 CCTGTGCCACGAGACAGACCT 0.507 NaN 0 0 0 0.013537 0 12 102 DOLPP1 57171 broad.mit.edu 37 9 131843464 131843464 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr9:131843464C>T uc004bxc.2 + 1 82 c.54C>T c.(52-54)CTC>CTT p.L18L DOLPP1_uc004bxd.2_Silent_p.L18L|DOLPP1_uc004bxe.2_RNA NM_020438 NP_065171 Q86YN1 DOPP1_HUMAN dolichyl pyrophosphate phosphatase 1 isoform a 18 dolichyl diphosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to endoplasmic reticulum membrane dolichyldiphosphatase activity skin(1) 1 CGGTGACCCTCACCCACGTCG 0.682 NaN 0 0 0 0.010729 0 8 38 EXOSC2 23404 broad.mit.edu 37 9 133569207 133569207 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr9:133569207C>T uc004bzu.2 + 1 50 c.29C>T c.(28-30)GCT>GTT p.A10V EXOSC2_uc011mbz.1_Missense_Mutation_p.A10V|EXOSC2_uc011mca.1_RNA NM_014285 NP_055100 Q13868 EXOS2_HUMAN exosome component 2 10 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|positive regulation of cell growth|rRNA processing cytosol|exosome (RNase complex)|nucleolus 3'-5'-exoribonuclease activity|7S RNA binding|protein binding ovary(1) 1 Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(13;0.0588) OV - Ovarian serous cystadenocarcinoma(145;0.000324) CTTCCAGTGGCTCGCAAGCCT 0.587 NaN 0 0 0 0.001984 0 5 12 FIBCD1 84929 broad.mit.edu 37 9 133799256 133799256 + Nonsense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr9:133799256G>A uc004bzz.2 - 4 969 c.724C>T c.(724-726)CGA>TGA p.R242* FIBCD1_uc011mcc.1_Nonsense_Mutation_p.R242* NM_032843 NP_116232 Q8N539 FBCD1_HUMAN fibrinogen C domain containing 1 242 Fibrinogen C-terminal.|Extracellular (Potential). signal transduction extracellular space|integral to membrane chitin binding|metal ion binding|receptor binding 0 all_hematologic(7;0.0028) OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019) AGACAGTCTCGGGGCCGGGAG 0.632 NaN 0 0 0 0.004007 0 13 33 BAT2L1 84726 broad.mit.edu 37 9 134340375 134340375 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr9:134340375G>A uc004can.3 + 11 1685 c.1630G>A c.(1630-1632)GAG>AAG p.E544K BAT2L1_uc010mzj.1_Missense_Mutation_p.E127K NM_013318 NP_037450 Q5JSZ5 PRC2B_HUMAN HLA-B associated transcript 2-like 544 Potential. protein binding 0 AAAGGCAGGTGAGGCCCGGAA 0.612 NaN 0 0 0 0.000602 0 5 30 GTF3C5 9328 broad.mit.edu 37 9 135906463 135906463 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr9:135906463G>A uc004cci.3 + 1 402 c.65G>A c.(64-66)CGA>CAA p.R22Q GTF3C5_uc010mzz.2_5'UTR|GTF3C5_uc004ccj.3_Missense_Mutation_p.R22Q NM_012087 NP_036219 Q9Y5Q8 TF3C5_HUMAN general transcription factor IIIC, polypeptide 5 22 transcription factor TFIIIC complex DNA binding|protein binding 0 OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05) AGGCGGGAGCGACGCATGGTG 0.721 NaN 0 0 0 0.000602 0 5 15 SURF2 6835 broad.mit.edu 37 9 136226921 136226921 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr9:136226921C>T uc004cdi.2 + 4 481 c.433C>T c.(433-435)CGC>TGC p.R145C NM_017503 NP_059973 Q15527 SURF2_HUMAN surfeit 2 145 protein binding 0 OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05) TGACGGGCCTCGCCCGCGGGA 0.627 NaN 0 0 0 0.008871 0 19 11 DBH 1621 broad.mit.edu 37 9 136507542 136507542 + Missense_Mutation SNP A A G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr9:136507542A>G uc004cel.2 + 3 709 c.700A>G c.(700-702)ATT>GTT p.I234V NM_000787 NP_000778 P09172 DOPO_HUMAN dopamine beta hydroxylase precursor 234 Intragranular (Potential). hormone biosynthetic process chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane dopamine beta-monooxygenase activity|L-ascorbic acid binding ovary(2)|central_nervous_system(2) 4 OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05) Dopamine(DB00988)|Vitamin C(DB00126) CTGGTGCTACATTAAGGAGCT 0.607 NaN 0 0 0 0.010729 0 12 10 RXRA 6256 broad.mit.edu 37 9 137328351 137328351 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr9:137328351C>T uc004cfb.2 + 10 1442 c.1280C>T c.(1279-1281)TCC>TTC p.S427F RXRA_uc004cfc.1_Missense_Mutation_p.S330F NM_002957 NP_002948 P19793 RXRA_HUMAN retinoid X receptor, alpha 427 Ligand-binding. cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process nuclear chromatin|nucleoplasm enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926) GCTCTGCGCTCCATCGGGCTC 0.607 NaN 0 0 0 0.01441 0 50 44 SOHLH1 402381 broad.mit.edu 37 9 138590901 138590901 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr9:138590901G>A uc004cgl.2 - 2 198 c.137C>T c.(136-138)ACG>ATG p.T46M SOHLH1_uc010nbe.2_Missense_Mutation_p.T46M NM_001012415 NP_001012415 Q5JUK2 SOLH1_HUMAN spermatogenesis and oogenesis specific basic 46 cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent cytoplasm|nucleus DNA binding breast(1)|central_nervous_system(1) 2 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05) CTCGGCCACCGTAGGGGCCTT 0.711 NaN 0 0 0 0.004482 0 8 12 KCNT1 57582 broad.mit.edu 37 9 138662868 138662868 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr9:138662868G>A uc011mdq.1 + 18 2009 c.1935G>A c.(1933-1935)AAG>AAA p.K645K KCNT1_uc011mdr.1_Silent_p.K472K|KCNT1_uc010nbf.2_Silent_p.K600K|KCNT1_uc004cgo.1_Silent_p.K394K NM_020822 NP_065873 Q5JUK3 KCNT1_HUMAN potassium channel, subfamily T, member 1 645 membrane binding|calcium-activated potassium channel activity large_intestine(2)|ovary(1)|pancreas(1) 4 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) AGCGGAAGAAGAGGGCCTTCT 0.652 NaN 0 0 0 0.013537 0 13 5 CAMSAP1 157922 broad.mit.edu 37 9 138713633 138713633 + Silent SNP G G A rs138126670 TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr9:138713633G>A uc004cgr.3 - 11 2874 c.2874C>T c.(2872-2874)CTC>CTT p.L958L CAMSAP1_uc004cgq.3_Silent_p.L848L|CAMSAP1_uc010nbg.2_Silent_p.L680L NM_015447 NP_056262 Q5T5Y3 CAMP1_HUMAN calmodulin regulated spectrin-associated protein 958 cytoplasm|microtubule ovary(1)|central_nervous_system(1)|pancreas(1) 3 OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05) CCTCCTTCACGAGAAAGTCTT 0.562 NaN 0 0 0 0.01441 0 115 41 MAMDC4 158056 broad.mit.edu 37 9 139748504 139748504 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr9:139748504G>A uc004cjs.2 + 6 696 c.646G>A c.(646-648)GAG>AAG p.E216K MAMDC4_uc011mej.1_5'UTR NM_206920 NP_996803 Q6UXC1 AEGP_HUMAN apical early endosomal glycoprotein precursor 216 Extracellular (Potential).|MAM 1. protein transport integral to membrane breast(4)|upper_aerodigestive_tract(2)|central_nervous_system(1) 7 all_cancers(76;0.0763)|all_epithelial(76;0.198) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171) AGATGACCTAGAGTTCTGGGA 0.627 NaN 0 0 0 0.007413 0 16 71 ABCA2 20 broad.mit.edu 37 9 139907259 139907259 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr9:139907259C>T uc011mem.1 - 30 5131 c.4983G>A c.(4981-4983)CAG>CAA p.Q1661Q ABCA2_uc011mel.1_Silent_p.Q1662Q|ABCA2_uc004ckl.1_Silent_p.Q1592Q|ABCA2_uc004ckm.1_Silent_p.Q1692Q|ABCA2_uc004ckn.1_RNA NM_001606 NP_001597 Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A, member 2 1661 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) CCACCCGCATCTGGGGCGGGT 0.687 NaN 0 0 0 0.010729 0 8 8 SSNA1 8636 broad.mit.edu 37 9 140083657 140083657 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr9:140083657G>A uc004cls.2 + 2 317 c.192G>A c.(190-192)AAG>AAA p.K64K ANAPC2_uc004clq.1_5'Flank|ANAPC2_uc004clr.1_5'Flank|ANAPC2_uc011mer.1_5'Flank NM_003731 NP_003722 O43805 SSNA1_HUMAN nuclear autoantigen of 14 kDa 64 Potential. G2/M transition of mitotic cell cycle centrosome|cytosol|nucleus breast(1) 1 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.43e-05)|Epithelial(140;0.00087) TGGCACGCAAGATTGCCTCTC 0.642 NaN 0 0 0 0.000602 0 4 25 NRARP 441478 broad.mit.edu 37 9 140196323 140196323 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr9:140196323C>T uc004cmo.2 - 1 381 c.58G>A c.(58-60)GAG>AAG p.E20K C9orf167_uc011mew.1_Intron NM_001004354 NP_001004354 Q7Z6K4 NRARP_HUMAN NOTCH-regulated ankyrin repeat protein 20 negative regulation of Notch signaling pathway|positive regulation of canonical Wnt receptor signaling pathway 0 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.185) OV - Ovarian serous cystadenocarcinoma(145;9.07e-05)|Epithelial(140;0.000273) CGCACAGCCTCCTGGAAGATG 0.517 NaN 0 0 0 0.001168 0 6 40 MRPL41 64975 broad.mit.edu 37 9 140446923 140446923 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr9:140446923C>T uc004cnh.3 + 2 520 c.390C>T c.(388-390)CTC>CTT p.L130L PNPLA7_uc010ncj.1_5'Flank|PNPLA7_uc004cnf.2_5'Flank NM_032477 NP_115866 Q8IXM3 RM41_HUMAN mitochondrial ribosomal protein L41 130 apoptosis|cell cycle|translation mitochondrial large ribosomal subunit structural constituent of ribosome 0 all_cancers(76;0.106) OV - Ovarian serous cystadenocarcinoma(145;0.000415)|Epithelial(140;0.00106) TCTTCCAGCTCTACCCCAGGA 0.557 NaN 0 0 0 0.014323 0 23 16 IL3RA 3563 broad.mit.edu 37 X 1484114 1484114 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chrX:1484114C>G uc004cps.2 + 9 1192 c.843C>G c.(841-843)TTC>TTG p.F281L IL3RA_uc011mhd.1_Missense_Mutation_p.F203L NM_002183 NP_002174 P26951 IL3RA_HUMAN interleukin 3 receptor, alpha precursor 281 Extracellular (Potential). 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) TGTATGAATTCTTGAGCGCCT 0.413 NaN 0 0 0 0.008871 0 18 30 WWC3 55841 broad.mit.edu 37 X 10104698 10104698 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chrX:10104698C>T uc004csx.3 + 20 2987 c.2789C>T c.(2788-2790)TCA>TTA p.S930L WWC3_uc010nds.2_Missense_Mutation_p.S594L|WWC3_uc010ndt.2_RNA NM_015691 NP_056506 Q9ULE0 WWC3_HUMAN WWC family member 3 930 ovary(4) 4 AGCGACAGTTCAACGCTGCCC 0.443 NaN 0 0 0 0.001855 0 13 32 HCCS 3052 broad.mit.edu 37 X 11130276 11130276 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chrX:11130276G>A uc004cuk.2 + 2 362 c.96G>A c.(94-96)ATG>ATA p.M32I uc004cui.1_5'Flank|HCCS_uc004cuj.2_Missense_Mutation_p.M32I|HCCS_uc004cul.1_Missense_Mutation_p.M32I NM_005333 NP_005324 P53701 CCHL_HUMAN holocytochrome c synthase 32 organ morphogenesis|oxidation-reduction process mitochondrial inner membrane holocytochrome-c synthase activity|metal ion binding 0 AAGGGAAAATGAAAGGTAATC 0.353 NaN 0 0 0 0.001855 0 13 22 TLR7 51284 broad.mit.edu 37 X 12906158 12906158 + Nonsense_Mutation SNP C C A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chrX:12906158C>A uc004cvc.2 + 3 2670 c.2531C>A c.(2530-2532)TCA>TAA p.S844* NM_016562 NP_057646 Q9NYK1 TLR7_HUMAN toll-like receptor 7 precursor 844 Helical; (Potential). cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity ovary(2)|lung(2)|breast(1) 5 Imiquimod(DB00724) ATTCTGTTCTCACTTTCCATA 0.453 NaN 1 0 6.73184e-63 0.01441 7.16434e-63 144 34 ZRSR2 8233 broad.mit.edu 37 X 15809081 15809081 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chrX:15809081G>A uc004cxg.3 + 2 111 c.66G>A c.(64-66)CTG>CTA p.L22L NM_005089 NP_005080 Q15696 U2AFM_HUMAN U2 small nuclear RNA auxiliary factor 1-like 2 22 spliceosome assembly U12-type spliceosomal complex nucleotide binding|pre-mRNA 3'-splice site binding|protein binding|zinc ion binding breast(3) 3 Hepatocellular(33;0.183) GGGCCGCCCTGAAGAAGGAGA 0.512 NaN 0 0 0 0.004007 0 15 4 GPR64 10149 broad.mit.edu 37 X 19032082 19032082 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chrX:19032082G>C uc004cyx.2 - 16 985 c.821C>G c.(820-822)CCC>CGC p.P274R GPR64_uc004cyy.2_Missense_Mutation_p.P271R|GPR64_uc004cyz.2_Missense_Mutation_p.P260R|GPR64_uc004czb.2_Missense_Mutation_p.P274R|GPR64_uc004czc.2_Missense_Mutation_p.P258R|GPR64_uc004czd.2_Missense_Mutation_p.P250R|GPR64_uc004cze.2_Missense_Mutation_p.P244R|GPR64_uc004czf.2_Missense_Mutation_p.P236R|GPR64_uc004cza.2_Missense_Mutation_p.P252R|GPR64_uc004cyw.2_Missense_Mutation_p.P258R|GPR64_uc010nfj.2_Missense_Mutation_p.P244R NM_001079858 NP_001073327 Q8IZP9 GPR64_HUMAN G protein-coupled receptor 64 isoform 1 274 Extracellular (Potential). neuropeptide signaling pathway|spermatogenesis cytoplasm|integral to plasma membrane G-protein coupled receptor activity 0 Hepatocellular(33;0.183) GGTAGCTTTGGGGACCTGGGA 0.542 NaN 0 0 0 0.00278 0 21 30 MAP3K15 389840 broad.mit.edu 37 X 19413274 19413274 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chrX:19413274G>A uc004czk.1 - 17 2181 c.544C>T c.(544-546)CGC>TGC p.R182C MAP3K15_uc004czj.1_Missense_Mutation_p.R142C NM_001001671 NP_001001671 Q6ZN16 M3K15_HUMAN mitogen-activated protein kinase kinase kinase 707 Protein kinase. ATP binding|MAP kinase kinase kinase activity|metal ion binding ovary(3)|lung(2)|stomach(1)|skin(1) 7 Hepatocellular(33;0.183) ACGATATTGCGGTGCTTAAGG 0.453 NaN 0 0 0 0.007835 0 41 64 MAOA 4128 broad.mit.edu 37 X 43587477 43587477 + Missense_Mutation SNP C C A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chrX:43587477C>A uc004dfy.2 + 6 742 c.561C>A c.(559-561)CAC>CAA p.H187Q MAOA_uc011mkw.1_Missense_Mutation_p.H54Q NM_000240 NP_000231 P21397 AOFA_HUMAN monoamine oxidase A 187 Cytoplasmic. behavior|neurotransmitter biosynthetic process|neurotransmitter catabolic process|neurotransmitter secretion|xenobiotic metabolic process integral to membrane|mitochondrial outer membrane primary amine oxidase activity|protein binding breast(2)|ovary(1) 3 Almotriptan(DB00918)|Carbidopa(DB00190)|Clonazepam(DB01068)|Dopamine(DB00988)|Fluvoxamine(DB00176)|Ginkgo biloba(DB01381)|Imipramine(DB00458)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Linezolid(DB00601)|Lorazepam(DB00186)|Moclobemide(DB01171)|Nicotine(DB00184)|Norepinephrine(DB00368)|Phenelzine(DB00780)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Rasagiline(DB01367)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315) CTGAGCCTCACGAAGTGTCTG 0.478 NaN 1 0 1.22674e-20 0.00874 1.29792e-20 43 101 CXorf36 79742 broad.mit.edu 37 X 45017019 45017019 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chrX:45017019G>A uc004dgg.2 - 3 688 c.613C>T c.(613-615)CGT>TGT p.R205C NM_176819 NP_789789 Q9H7Y0 CX036_HUMAN hypothetical protein LOC79742 isoform 1 205 extracellular region lung(1) 1 AGCTTGTCACGGTCGGTGAAG 0.632 NaN 0 0 0 0.009096 0 3 8 CDK16 5127 broad.mit.edu 37 X 47083090 47083090 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chrX:47083090G>A uc004dho.2 + 2 530 c.134G>A c.(133-135)GGA>GAA p.G45E CDK16_uc011mli.1_Missense_Mutation_p.G51E|CDK16_uc011mlj.1_Missense_Mutation_p.G45E|CDK16_uc011mlk.1_Missense_Mutation_p.G45E|CDK16_uc011mll.1_Missense_Mutation_p.G119E NM_006201 NP_006192 Q00536 CDK16_HUMAN PCTAIRE protein kinase 1 isoform 1 45 ATP binding|cyclin-dependent protein kinase activity|protein binding lung(1) 1 AGTGACCCTGGAGAGGCCCCC 0.622 NaN 0 0 0 0.004482 0 8 2 CDK16 5127 broad.mit.edu 37 X 47083092 47083092 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chrX:47083092G>A uc004dho.2 + 2 532 c.136G>A c.(136-138)GAG>AAG p.E46K CDK16_uc011mli.1_Missense_Mutation_p.E52K|CDK16_uc011mlj.1_Missense_Mutation_p.E46K|CDK16_uc011mlk.1_Missense_Mutation_p.E46K|CDK16_uc011mll.1_Missense_Mutation_p.E120K NM_006201 NP_006192 Q00536 CDK16_HUMAN PCTAIRE protein kinase 1 isoform 1 46 ATP binding|cyclin-dependent protein kinase activity|protein binding lung(1) 1 TGACCCTGGAGAGGCCCCCAC 0.627 NaN 0 0 0 0.004482 0 8 2 CDK16 5127 broad.mit.edu 37 X 47083915 47083915 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chrX:47083915G>A uc004dho.2 + 3 730 c.334G>A c.(334-336)GAG>AAG p.E112K CDK16_uc011mli.1_Missense_Mutation_p.E118K|CDK16_uc011mlj.1_Missense_Mutation_p.E112K|CDK16_uc011mlk.1_Missense_Mutation_p.E112K|CDK16_uc011mll.1_Missense_Mutation_p.E186K NM_006201 NP_006192 Q00536 CDK16_HUMAN PCTAIRE protein kinase 1 isoform 1 112 ATP binding|cyclin-dependent protein kinase activity|protein binding lung(1) 1 GATCTCCACTGAGGTGCTTGA 0.577 NaN 0 0 0 0.005443 0 27 3 TFE3 7030 broad.mit.edu 37 X 48891000 48891000 + Silent SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chrX:48891000G>C uc004dmb.3 - 8 1354 c.1116C>G c.(1114-1116)CTC>CTG p.L372L TFE3_uc004dmc.3_Silent_p.L267L|TFE3_uc004dme.1_RNA NM_006521 NP_006512 P19532 TFE3_HUMAN transcription factor E3 372 Helix-loop-helix motif. humoral immune response|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding ASPSCR1/TFE3(161)|PRCC/TFE3(25)|SFPQ/TFE3(6)|NONO/TFE3(2)|CLTC/TFE3(2) soft_tissue(120)|kidney(76)|central_nervous_system(1) 197 ACTTAGGGATGAGAGTGCCCA 0.567 NaN T SFPQ|ASPSCR1|PRCC|NONO|CLTC papillary renal|alveolar soft part sarcoma|renal 0 0 0 0.001984 0 7 17 CACNA1F 778 broad.mit.edu 37 X 49079298 49079298 + Splice_Site SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chrX:49079298C>T uc004dnb.2 - 16 2181 c.2119_splice c.e16-1 p.I707_splice CACNA1F_uc010nip.2_Splice_Site_p.I696_splice NM_005183 NP_005174 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity breast(3)|ovary(1)|kidney(1)|skin(1) 6 Verapamil(DB00661) CTGTCAGGATCTGGGGGTGGG 0.547 NaN 0 0 0 0.007413 0 18 26 CCNB3 85417 broad.mit.edu 37 X 50052841 50052841 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chrX:50052841G>A uc004dox.3 + 6 1970 c.1672G>A c.(1672-1674)GAA>AAA p.E558K CCNB3_uc004doy.2_Missense_Mutation_p.E558K|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron NM_033031 NP_149020 Q8WWL7 CCNB3_HUMAN cyclin B3 isoform 3 558 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding ovary(4)|lung(3)|large_intestine(1)|pancreas(1) 9 Ovarian(276;0.236) TATGATTGGTGAAGATAAGAA 0.378 NaN 0 0 0 0.008361 0 31 9 SHROOM4 57477 broad.mit.edu 37 X 50370665 50370665 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chrX:50370665C>G uc004dpe.2 - 5 2932 c.2906G>C c.(2905-2907)GGG>GCG p.G969A SHROOM4_uc004dpd.3_RNA NM_020717 NP_065768 Q9ULL8 SHRM4_HUMAN shroom family member 4 969 actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding upper_aerodigestive_tract(1) 1 Ovarian(276;0.236) CCATTTGTCCCCAGGAAATTC 0.493 NaN 0 0 0 0.006122 0 19 18 FGD1 2245 broad.mit.edu 37 X 54473866 54473866 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chrX:54473866C>T uc004dtg.2 - 17 3192 c.2458G>A c.(2458-2460)GAG>AAG p.E820K NM_004463 NP_004454 P98174 FGD1_HUMAN faciogenital dysplasia protein 820 actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(3)|skin(2)|central_nervous_system(1) 6 ACGCTGTTCTCTGCAGCCACT 0.537 NaN 0 0 0 0.007413 0 18 3 PAGE5 90737 broad.mit.edu 37 X 55247849 55247849 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chrX:55247849G>A uc004duj.2 + 2 336 c.94G>A c.(94-96)GAA>AAA p.E32K PAGE5_uc004duk.2_Missense_Mutation_p.E12K NM_130467 NP_569734 Q96GU1 GGEE1_HUMAN P antigen family, member 5 isoform 1 32 0 CCAATCCTCAGAAAGAGGAAA 0.328 NaN 0 0 0 0.007413 0 19 24 ZXDA 7789 broad.mit.edu 37 X 57935505 57935505 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chrX:57935505G>A uc004dve.2 - 1 1563 c.1350C>T c.(1348-1350)TTC>TTT p.F450F NM_007156 NP_009087 P98168 ZXDA_HUMAN zinc finger, X-linked, duplicated A 450 C2H2-type 7.|Required for interaction with ZXDC. positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 AGTCACAAAGGAAAGGTCTCT 0.512 NaN 0 0 0 0.010504 0 17 24 MED12 9968 broad.mit.edu 37 X 70355032 70355032 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chrX:70355032G>A uc004dyy.2 + 36 5153 c.4954G>A c.(4954-4956)GAG>AAG p.E1652K MED12_uc011mpq.1_Missense_Mutation_p.E1652K|MED12_uc004dyz.2_Missense_Mutation_p.E1652K|MED12_uc004dza.2_Missense_Mutation_p.E1499K|MED12_uc010nla.2_Missense_Mutation_p.E278K NM_005120 NP_005111 Q93074 MED12_HUMAN mediator complex subunit 12 1652 Interaction with CTNNB1 and GLI3. 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) CATCACGTGTGAGCCACAGGG 0.562 NaN 0 0 0 0.008871 0 21 1 RPS4X 6191 broad.mit.edu 37 X 71494972 71494972 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chrX:71494972C>T uc004ear.2 - 4 387 c.291G>A c.(289-291)GAG>GAA p.E97E RPS4X_uc011mqb.1_Silent_p.E97E NM_001007 NP_000998 P62701 RS4X_HUMAN ribosomal protein S4, X-linked X isoform 97 S4 RNA-binding. endocrine pancreas development|positive regulation of cell proliferation|positive regulation of translation|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|polysome rRNA binding|structural constituent of ribosome 0 Renal(35;0.156) GACGGAAATTCTCTCCCGTCT 0.483 NaN 0 0 0 0.008291 0 10 6 RPS4X 6191 broad.mit.edu 37 X 71494974 71494974 + Missense_Mutation SNP C C G rs113141010 TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chrX:71494974C>G uc004ear.2 - 4 385 c.289G>C c.(289-291)GAG>CAG p.E97Q RPS4X_uc011mqb.1_Missense_Mutation_p.E97Q NM_001007 NP_000998 P62701 RS4X_HUMAN ribosomal protein S4, X-linked X isoform 97 S4 RNA-binding. endocrine pancreas development|positive regulation of cell proliferation|positive regulation of translation|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|polysome rRNA binding|structural constituent of ribosome 0 Renal(35;0.156) CGGAAATTCTCTCCCGTCTTG 0.483 NaN 0 0 0 0.008291 0 10 6 PHKA1 5255 broad.mit.edu 37 X 71846900 71846900 + Splice_Site SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chrX:71846900C>G uc004eax.3 - 17 2016 c.1715_splice c.e17-1 p.D572_splice PHKA1_uc004eay.3_Splice_Site_p.D572_splice|PHKA1_uc011mqi.1_Splice_Site_p.D572_splice NM_002637 NP_002628 P46020 KPB1_HUMAN phosphorylase kinase, alpha 1 (muscle) isoform 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) CCATCTTCATCTTGAAATGAA 0.363 NaN 0 0 0 0.00333 0 26 11 RLIM 51132 broad.mit.edu 37 X 73812835 73812835 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chrX:73812835G>A uc004ebu.2 - 5 605 c.315C>T c.(313-315)GTC>GTT p.V105V RLIM_uc004ebw.2_Silent_p.V105V NM_183353 NP_899196 Q9NVW2 RNF12_HUMAN ring finger protein, LIM domain interacting 105 random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|transcriptional repressor complex transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 CAGTTTGTCTGACAGAGTTAA 0.428 NaN 0 0 0 0.00623 0 39 22 PCDH19 57526 broad.mit.edu 37 X 99661856 99661856 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chrX:99661856G>C uc010nmz.2 - 1 3416 c.1740C>G c.(1738-1740)AAC>AAG p.N580K PCDH19_uc004efw.3_Missense_Mutation_p.N580K|PCDH19_uc004efx.3_Missense_Mutation_p.N580K NM_020766 NP_001098713 Q8TAB3 PCD19_HUMAN protocadherin 19 isoform b 580 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 7 CTATGCCAGAGTTGCGGGGTA 0.587 NaN 0 0 0 0.006122 0 17 12 RNF128 79589 broad.mit.edu 37 X 105937496 105937496 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chrX:105937496G>C uc004emk.2 + 1 429 c.264G>C c.(262-264)AAG>AAC p.K88N NM_024539 NP_078815 Q8TEB7 RN128_HUMAN ring finger protein 128 isoform 2 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment endomembrane system|integral to membrane|perinuclear region of cytoplasm zinc ion binding ovary(1)|central_nervous_system(1) 2 GTAATACTAAGAAGCCCTGGA 0.408 NaN 0 0 0 0.008871 0 21 11 GRIA3 2892 broad.mit.edu 37 X 122561889 122561889 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chrX:122561889G>C uc004etq.3 + 13 2268 c.1975G>C c.(1975-1977)GAG>CAG p.E659Q GRIA3_uc004etr.3_Missense_Mutation_p.E659Q|GRIA3_uc004ets.3_RNA NM_007325 NP_015564 P42263 GRIA3_HUMAN glutamate receptor, ionotrophic, AMPA 3 isoform 659 Extracellular (Potential). glutamate signaling pathway|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 L-Glutamic Acid(DB00142) CCTGACTGTGGAGAGGATGGT 0.463 NaN 0 0 0 0.01441 0 51 24 GRIA3 2892 broad.mit.edu 37 X 122598816 122598816 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chrX:122598816G>A uc004etq.3 + 14 2470 c.2177G>A c.(2176-2178)CGA>CAA p.R726Q GRIA3_uc004etr.3_Missense_Mutation_p.R726Q|GRIA3_uc004ets.3_RNA NM_007325 NP_015564 P42263 GRIA3_HUMAN glutamate receptor, ionotrophic, AMPA 3 isoform 726 Extracellular (Potential). glutamate signaling pathway|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 L-Glutamic Acid(DB00142) GCCCGAGTGCGAAAGTCCAAG 0.458 NaN 0 0 0 0.004656 0 24 13 USP26 83844 broad.mit.edu 37 X 132162129 132162129 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chrX:132162129C>T uc010nrm.1 - 6 590 c.120G>A c.(118-120)CTG>CTA p.L40L USP26_uc011mvf.1_Silent_p.L40L NM_031907 NP_114113 Q9BXU7 UBP26_HUMAN ubiquitin-specific protease 26 40 protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity lung(3)|central_nervous_system(3)|kidney(1)|liver(1) 8 Acute lymphoblastic leukemia(192;0.000127) TTTTGAAATACAGCACCAGTC 0.353 NaN 0 0 0 0.012319 0 23 17 FGF13 2258 broad.mit.edu 37 X 138286239 138286239 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chrX:138286239C>T uc004faq.2 - 1 207 c.31G>A c.(31-33)GAG>AAG p.E11K FGF13_uc004far.2_5'UTR|FGF13_uc011mwj.1_Missense_Mutation_p.E11K|FGF13_uc011mwk.1_Missense_Mutation_p.E11K NM_001139502 NP_001132974 Q92913 FGF13_HUMAN fibroblast growth factor 13 isoform 3 Error:Variant_position_missing_in_Q92913_after_alignment cell-cell signaling|MAPKKK cascade|nervous system development cytoplasm|nucleus growth factor activity|protein kinase activator activity ovary(1)|large_intestine(1)|breast(1) 3 Acute lymphoblastic leukemia(192;0.000127) GCATCTTTCTCCTCTTTGGGC 0.622 NaN 0 0 0 0.008291 0 11 6 ZNF185 7739 broad.mit.edu 37 X 152137987 152137987 + Silent SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chrX:152137987C>T uc010ntv.1 + 21 1967 c.1930C>T c.(1930-1932)CTA>TTA p.L644L ZNF185_uc011myg.1_Silent_p.L676L|ZNF185_uc011myh.1_Silent_p.L647L|ZNF185_uc011myi.1_Silent_p.L615L|ZNF185_uc011myj.1_Silent_p.L585L|ZNF185_uc011myk.1_Silent_p.L645L|ZNF185_uc004fgw.3_Silent_p.L423L|ZNF185_uc004fgu.2_Silent_p.L273L|ZNF185_uc004fgv.2_Silent_p.L341L|ZNF185_uc004fgx.2_Silent_p.L282L NM_007150 NP_009081 O15231 ZN185_HUMAN zinc finger protein 185 644 LIM zinc-binding. cytoplasm|cytoskeleton|focal adhesion zinc ion binding ovary(3) 3 Acute lymphoblastic leukemia(192;6.56e-05) AAAGATTACCCTAGAACATCT 0.473 NaN 0 0 0 0.004482 0 7 3 HCFC1 3054 broad.mit.edu 37 X 153223253 153223253 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chrX:153223253G>C uc004fjp.2 - 12 2641 c.2113C>G c.(2113-2115)CCT>GCT p.P705A NM_005334 NP_005325 P51610 HCFC1_HUMAN host cell factor 1 705 Interaction with SIN3A. cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(2) 2 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TGAGTCACAGGACCCGTGGAC 0.547 NaN 0 0 0 0.012319 0 19 13 FLNA 2316 broad.mit.edu 37 X 153580262 153580262 + Silent SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chrX:153580262G>C uc004fkk.2 - 42 7146 c.6897C>G c.(6895-6897)GTC>GTG p.V2299V FLNA_uc004fki.2_Silent_p.V342V|FLNA_uc011mzn.1_Silent_p.V432V|FLNA_uc010nuu.1_Silent_p.V2291V NM_001110556 NP_001104026 P21333 FLNA_HUMAN filamin A, alpha isoform 2 2299 Filamin 21. actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CTGGCTCCTGGACCACATAAG 0.637 NaN 0 0 0 0.004482 0 9 7 IL9R 3581 broad.mit.edu 37 X 155232652 155232652 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chrX:155232652G>A uc004fnv.1 + 2 289 c.110G>A c.(109-111)TGC>TAC p.C37Y IL9R_uc010nvn.2_Missense_Mutation_p.C16Y|IL9R_uc004fnu.1_Missense_Mutation_p.C84Y NM_002186 NP_002177 Q01113 IL9R_HUMAN interleukin 9 receptor precursor 37 cell proliferation extracellular space|integral to plasma membrane interleukin-9 receptor activity 0 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) ACCTGTGTCTGCTTGGGAGTC 0.597 NaN 0 0 0 0.00333 0 24 56 USP9Y 8287 broad.mit.edu 37 Y 14885574 14885574 + Missense_Mutation SNP G G T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chrY:14885574G>T uc004fst.1 + 17 2991 c.2046G>T c.(2044-2046)TGG>TGT p.W682C USP9Y_uc010nwu.1_RNA NM_004654 NP_004645 O00507 USP9Y_HUMAN ubiquitin specific protease 9, Y-linked 682 BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity 0 AACAAATATGGAAGTGCTTAG 0.393 NaN 1 0 2.31418e-15 0.01441 2.43303e-15 51 20 USP9Y 8287 broad.mit.edu 37 Y 14885804 14885804 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chrY:14885804G>C uc004fst.1 + 17 3221 c.2276G>C c.(2275-2277)AGA>ACA p.R759T USP9Y_uc010nwu.1_RNA NM_004654 NP_004645 O00507 USP9Y_HUMAN ubiquitin specific protease 9, Y-linked 759 BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity 0 ATAGCAAAAAGAAGATCCTAT 0.353 NaN 0 0 0 0.012319 0 21 8 USP9Y 8287 broad.mit.edu 37 Y 14885824 14885824 + Missense_Mutation SNP G G T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chrY:14885824G>T uc004fst.1 + 17 3241 c.2296G>T c.(2296-2298)GAT>TAT p.D766Y USP9Y_uc010nwu.1_RNA NM_004654 NP_004645 O00507 USP9Y_HUMAN ubiquitin specific protease 9, Y-linked 766 BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity 0 TATGATGGATGATTTGGAATT 0.313 NaN 1 0 1.33834e-09 0.007413 1.38957e-09 18 6 PIGK 10026 broad.mit.edu 37 1 77588010 77588010 + Frame_Shift_Del DEL C C - TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:77588010delC uc001dhk.2 - 10 1066 c.1021delG c.(1021-1023)GAAfs p.E341fs PIGK_uc010orj.1_Frame_Shift_Del_p.E265fs|PIGK_uc009wbx.2_Frame_Shift_Del_p.E247fs NM_005482 NP_005473 Q92643 GPI8_HUMAN phosphatidylinositol glycan anchor biosynthesis, 341 Lumenal (Potential). Missing: Loss of activity. attachment of GPI anchor to protein|C-terminal protein lipidation|protein thiol-disulfide exchange|proteolysis GPI-anchor transamidase complex cysteine-type endopeptidase activity|GPI-anchor transamidase activity|protein binding ovary(2)|pancreas(1) 3 TTCAGAGGTTCCATTAGTTTC 0.313 NaN NaN NaN NaN NaN NaN 21 99 --- --- HIST3H2A 92815 broad.mit.edu 37 1 228645368 228645386 + Frame_Shift_Del DEL AGACCGGGGCGCCGGCGCC AGACCGGGGCGCCGGCGCC - rs143327597 byFrequency TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr1:228645368_228645386delAGACCGGGGCGCCGGCGCC uc001hsy.2 - 1 175_193 c.133_151delGGCGCCGGCGCCCCGGTCT c.(133-153)GGCGCCGGCGCCCCGGTCTATfs p.G45fs HIST3H2BB_uc001hsz.2_5'Flank NM_033445 NP_254280 Q7L7L0 H2A3_HUMAN histone cluster 3, H2a 45_51 nucleosome assembly nucleosome|nucleus DNA binding ovary(1) 1 Prostate(94;0.183) GCGGCCAGATAGACCGGGGCGCCGGCGCCCACGCGCTCC 0.703 NaN NaN NaN NaN NaN NaN 7 10 --- --- HERC4 26091 broad.mit.edu 37 10 69748513 69748513 + Frame_Shift_Del DEL C C - TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr10:69748513delC uc001jng.3 - 15 2024 c.1713delG c.(1711-1713)TTGfs p.L571fs HERC4_uc009xpq.2_Frame_Shift_Del_p.L112fs|HERC4_uc001jnf.3_RNA|HERC4_uc001jnh.3_Frame_Shift_Del_p.L571fs|HERC4_uc009xpr.2_Frame_Shift_Del_p.L571fs|HERC4_uc001jni.3_Frame_Shift_Del_p.L315fs|HERC4_uc001jnj.2_Frame_Shift_Del_p.L571fs NM_022079 NP_071362 Q5GLZ8 HERC4_HUMAN hect domain and RLD 4 isoform a 571 cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis cytosol ubiquitin-protein ligase activity ovary(1)|breast(1)|skin(1) 3 TGTAGAGTTTCAAAAGATGTA 0.343 NaN NaN NaN NaN NaN NaN 57 176 --- --- CHUK 1147 broad.mit.edu 37 10 101953863 101953865 + In_Frame_Del DEL TCT TCT - TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr10:101953863_101953865delTCT uc001kqp.2 - 18 1905_1907 c.1850_1852delAGA c.(1849-1854)AAGATT>ATT p.K617del NM_001278 NP_001269 O15111 IKKA_HUMAN conserved helix-loop-helix ubiquitous kinase 617 I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus ATP binding|identical protein binding|IkappaB kinase activity ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|breast(1) 7 Colorectal(252;0.117) Epithelial(162;2.05e-10)|all cancers(201;1.91e-08) AGATCAATAATCTTCTGCTTACA 0.433 NaN NaN NaN NaN NaN NaN 41 44 --- --- AVIL 10677 broad.mit.edu 37 12 58191766 58191783 + Splice_Site DEL CAGAGAGGTAATTCTAAG CAGAGAGGTAATTCTAAG - TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:58191766_58191783delCAGAGAGGTAATTCTAAG uc001sqj.1 - 19 2376 c.2347_splice c.e19-1 p.N783_splice AVIL_uc009zqe.1_Splice_Site_p.N776_splice NM_006576 NP_006567 O75366 AVIL_HUMAN advillin actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development actin cytoskeleton|axon|cytoplasm actin binding central_nervous_system(1) 1 Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) AAGTCCTGTTCAGAGAGGTAATTCTAAGAGAGAAAACA 0.436 NaN NaN NaN NaN NaN NaN 20 57 --- --- SLC25A3 5250 broad.mit.edu 37 12 98995210 98995211 + Frame_Shift_Del DEL TA TA - TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr12:98995210_98995211delTA uc001tfo.2 + 8 1113_1114 c.993_994delTA c.(991-996)TTTATCfs p.F331fs SLC25A3_uc001tfm.2_Frame_Shift_Del_p.F330fs|SLC25A3_uc001tfn.2_Frame_Shift_Del_p.F330fs|SLC25A3_uc001tfp.2_Frame_Shift_Del_p.F330fs|SLC25A3_uc001tfq.2_Frame_Shift_Del_p.F200fs|SLC25A3_uc001tfr.2_Frame_Shift_Del_p.F331fs|SLC25A3_uc001tfs.2_Frame_Shift_Del_p.F287fs|SLC25A3_uc009ztn.2_Frame_Shift_Del_p.F293fs|SLC25A3_uc001tft.2_Frame_Shift_Del_p.F330fs NM_005888 NP_005879 Q00325 MPCP_HUMAN solute carrier family 25 member 3 isoform a 331_332 Solcar 3.|Helical; Name=6; (Potential). generation of precursor metabolites and energy integral to plasma membrane|mitochondrial inner membrane phosphate carrier activity|symporter activity 0 Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255) GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115) TACAGTGGTTTATCTATGACTC 0.46 NaN NaN NaN NaN NaN NaN 81 121 --- --- MIPEP 4285 broad.mit.edu 37 13 24411850 24411850 + Frame_Shift_Del DEL C C - TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr13:24411850delC uc001uox.3 - 13 1484 c.1384delG c.(1384-1386)GACfs p.D462fs NM_005932 NP_005923 Q99797 MIPEP_HUMAN mitochondrial intermediate peptidase precursor 462 protein processing involved in protein targeting to mitochondrion|proteolysis mitochondrial matrix metal ion binding|metalloendopeptidase activity central_nervous_system(1) 1 all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14) all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232) AGTTGATAGTCTCCATCTTCC 0.393 NaN NaN NaN NaN NaN NaN 24 117 --- --- MIPOL1 145282 broad.mit.edu 37 14 37717025 37717051 + Splice_Site DEL TTATTTTAGCTGCAAATCTTGGAGCAA TTATTTTAGCTGCAAATCTTGGAGCAA - rs116728484 by1000genomes TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr14:37717025_37717051delTTATTTTAGCTGCAAATCTTGGAGCAA uc001wuc.2 + 4 444 c.-59_splice c.e4-1 MIPOL1_uc010amr.2_Splice_Site|MIPOL1_uc001wub.3_Splice_Site|MIPOL1_uc001wud.2_Splice_Site|MIPOL1_uc010ams.2_Splice_Site|MIPOL1_uc001wue.2_Splice_Site|MIPOL1_uc010amt.2_Intron NM_138731 NP_620059 Q8TD10 MIPO1_HUMAN mirror-image polydactyly 1 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) AGAGTTGGCTTTATTTTAGCTGCAAATCTTGGAGCAAAAACCAGAGA 0.339 NaN NaN NaN NaN NaN NaN 7 26 --- --- GREM1 26585 broad.mit.edu 37 15 33023246 33023247 + Frame_Shift_Ins INS - - A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr15:33023246_33023247insA uc001zhe.1 + 2 514_515 c.355_356insA c.(355-357)TACfs p.Y119fs GREM1_uc001zhd.1_Frame_Shift_Ins_p.Y49fs|GREM1_uc010uby.1_Frame_Shift_Ins_p.Y78fs NM_013372 NP_037504 O60565 GREM1_HUMAN gremlin-1 precursor 119 CTCK. negative regulation of BMP signaling pathway|nervous system development|regulation of epithelial to mesenchymal transition extracellular space cytokine activity 0 all_lung(180;1.49e-09) all cancers(64;2.97e-18)|Epithelial(43;3.15e-12)|GBM - Glioblastoma multiforme(186;2.32e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0107) CCGCTTCTGTTACGGCCAGTGC 0.535 NaN NaN NaN NaN NaN NaN 43 61 --- --- TRAF4 9618 broad.mit.edu 37 17 27075334 27075357 + In_Frame_Del DEL GCCCGCATGATGCGGCGGCTGCTG GCCCGCATGATGCGGCGGCTGCTG - rs35932778 byFrequency TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:27075334_27075357delGCCCGCATGATGCGGCGGCTGCTG uc002hcs.2 + 5 625_648 c.517_540delGCCCGCATGATGCGGCGGCTGCTG c.(517-540)GCCCGCATGATGCGGCGGCTGCTGdel p.ARMMRRLL173del TRAF4_uc002hcq.1_Intron NM_004295 NP_004286 Q9BUZ4 TRAF4_HUMAN TNF receptor-associated factor 4 173_180 TRAF-type 2. apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction DNA binding|ubiquitin-protein ligase activity|WW domain binding|zinc ion binding upper_aerodigestive_tract(1)|lung(1) 2 Lung NSC(42;0.01) Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235) TAAGTGTGGTGCCCGCATGATGCGGCGGCTGCTGGCCCAGCATG 0.576 NaN NaN NaN NaN NaN NaN 10 39 --- --- MAPT 4137 broad.mit.edu 37 17 44096051 44096072 + Frame_Shift_Del DEL GTCCCTGGACAATATCACCCAC GTCCCTGGACAATATCACCCAC - TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:44096051_44096072delGTCCCTGGACAATATCACCCAC uc002ijr.3 + 13 2336_2357 c.2016_2037delGTCCCTGGACAATATCACCCAC c.(2014-2037)GGGTCCCTGGACAATATCACCCACfs p.G672fs MAPT_uc010dau.2_Frame_Shift_Del_p.G690fs|MAPT_uc002ijs.3_Frame_Shift_Del_p.G355fs|MAPT_uc002ijx.3_Frame_Shift_Del_p.G326fs|MAPT_uc002ijt.3_Frame_Shift_Del_p.G297fs|MAPT_uc002iju.3_Frame_Shift_Del_p.G266fs|MAPT_uc002ijv.3_Frame_Shift_Del_p.G273fs NM_016835 NP_058519 P10636 TAU_HUMAN microtubule-associated protein tau isoform 1 672_679 Tau/MAP 4. cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton pancreas(1) 1 Melanoma(429;0.216) CGAAGATTGGGTCCCTGGACAATATCACCCACGTCCCTGGCG 0.5 NaN NaN NaN NaN NaN NaN 25 116 --- --- WDR45L 56270 broad.mit.edu 37 17 80588887 80588889 + In_Frame_Del DEL CTT CTT - TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr17:80588887_80588889delCTT uc002kfq.2 - 3 347_349 c.152_154delAAG c.(151-156)GAAGGA>GGA p.E51del WDR45L_uc002kfr.2_RNA NM_019613 NP_062559 Q5MNZ6 WIPI3_HUMAN WDR45-like 51 autophagy|response to starvation organelle membrane phosphatidylinositol-3,5-bisphosphate binding ovary(1) 1 Breast(20;0.00106)|all_neural(118;0.0952) all_cancers(8;0.101)|all_epithelial(8;0.198) BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.0835) CCAACTCCTCCTTCTAGAAATTC 0.335 NaN NaN NaN NaN NaN NaN 55 181 --- --- RBBP8 5932 broad.mit.edu 37 18 20596832 20596833 + Frame_Shift_Ins INS - - C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr18:20596832_20596833insC uc002ktw.2 + 17 2730_2731 c.2399_2400insC c.(2398-2400)CGGfs p.R800fs RBBP8_uc002kty.2_Frame_Shift_Ins_p.R800fs|RBBP8_uc002ktz.2_Intron|RBBP8_uc002kua.2_Frame_Shift_Ins_p.R805fs|RBBP8_uc010xap.1_Frame_Shift_Ins_p.R138fs NM_002894 NP_002885 Q99708 COM1_HUMAN retinoblastoma binding protein 8 isoform a 800 cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter nucleus damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity ovary(1)|lung(1)|skin(1) 3 all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19) OV - Ovarian serous cystadenocarcinoma(1;0.00196) GAGGTGGTTCGGAAAAAAGAGG 0.351 NaN Direct_reversal_of_damage|Homologous_recombination NaN NaN NaN NaN NaN 9 35 --- --- CC2D1A 54862 broad.mit.edu 37 19 14037992 14037992 + Frame_Shift_Del DEL C C - TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr19:14037992delC uc002mxo.2 + 22 2529 c.2230delC c.(2230-2232)CTGfs p.L744fs CC2D1A_uc002mxp.2_Frame_Shift_Del_p.L744fs|CC2D1A_uc010dzh.2_Frame_Shift_Del_p.L313fs|CC2D1A_uc002mxq.1_3'UTR NM_017721 NP_060191 Q6P1N0 C2D1A_HUMAN coiled-coil and C2 domain containing 1A 744 C2. positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus|plasma membrane DNA binding|signal transducer activity 0 OV - Ovarian serous cystadenocarcinoma(19;3.49e-23) ACACAGGGGGCTGTTCAAGAC 0.602 NaN NaN NaN NaN NaN NaN 8 125 --- --- FOSL2 2355 broad.mit.edu 37 2 28634949 28634950 + Frame_Shift_Ins INS - - CT TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:28634949_28634950insCT uc002rma.2 + 4 1424_1425 c.615_616insCT c.(613-618)GGGCTGfs p.G205fs FOSL2_uc010ymi.1_Frame_Shift_Ins_p.G166fs NM_005253 NP_005244 P15408 FOSL2_HUMAN FOS-like antigen 2 205_206 cell death|regulation of transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|breast(1) 3 Acute lymphoblastic leukemia(172;0.155) CAGCCCCTGGGCTGCAGCCCAT 0.663 NaN NaN NaN NaN NaN NaN 23 93 --- --- POU3F3 5455 broad.mit.edu 37 2 105473173 105473180 + Frame_Shift_Del DEL CGCAGGGC CGCAGGGC - rs140129722 TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr2:105473173_105473180delCGCAGGGC uc010ywg.1 + 1 1205_1212 c.1205_1212delCGCAGGGC c.(1204-1212)GCGCAGGGCfs p.A402fs NM_006236 NP_006227 P20264 PO3F3_HUMAN POU class 3 homeobox 3 402_404 metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation nucleus sequence-specific DNA binding ovary(1) 1 AAGATCGCGGCGCAGGGCCGCAAGCGCA 0.625 NaN NaN NaN NaN NaN NaN 12 26 --- --- NCOA5 57727 broad.mit.edu 37 20 44691177 44691186 + Frame_Shift_Del DEL GGTCTGGGGC GGTCTGGGGC - TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr20:44691177_44691186delGGTCTGGGGC uc002xrd.2 - 7 2021_2030 c.1493_1502delGCCCCAGACC c.(1492-1503)GGCCCCAGACCTfs p.G498fs NCOA5_uc002xrc.2_3'UTR|NCOA5_uc002xre.2_Frame_Shift_Del_p.G498fs NM_020967 NP_066018 Q9HCD5 NCOA5_HUMAN nuclear receptor coactivator 5 498_501 Transcription activation. regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation nucleus aminoacyl-tRNA ligase activity|ATP binding central_nervous_system(1)|skin(1) 2 Myeloproliferative disorder(115;0.0122) AGGAGCCCCAGGTCTGGGGCCCATGTTCTG 0.557 NaN NaN NaN NaN NaN NaN 24 60 --- --- PBRM1 55193 broad.mit.edu 37 3 52584525 52584526 + Frame_Shift_Del DEL CC CC - TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:52584525_52584526delCC uc003des.2 - 29 4820_4821 c.4808_4809delGG c.(4807-4809)CGGfs p.R1603fs PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Frame_Shift_Del_p.R1496fs|PBRM1_uc003der.2_Frame_Shift_Del_p.R1516fs|PBRM1_uc003det.2_Frame_Shift_Del_p.R1511fs|PBRM1_uc003deu.2_Frame_Shift_Del_p.R1566fs|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Frame_Shift_Del_p.R1548fs|PBRM1_uc010hmk.1_Frame_Shift_Del_p.R1523fs|PBRM1_uc003dey.2_Frame_Shift_Del_p.R1496fs NM_181042 NP_060635 Q86U86 PB1_HUMAN polybromo 1 isoform 4 1603 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) AGTGAAGAAGCCGCTGGGTCTT 0.545 NaN Mis|N|F|S|D|O clear cell renal carcinoma|breast NaN NaN NaN NaN NaN 15 65 --- --- AMOTL2 51421 broad.mit.edu 37 3 134077396 134077397 + Frame_Shift_Ins INS - - T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr3:134077396_134077397insT uc003eqf.2 - 9 2557_2558 c.2440_2441insA c.(2440-2442)AGAfs p.R814fs AMOTL2_uc003eqg.1_Frame_Shift_Ins_p.R757fs|AMOTL2_uc003eqh.1_Frame_Shift_Ins_p.R754fs|AMOTL2_uc010htx.1_5'Flank|AMOTL2_uc003eqe.1_Frame_Shift_Ins_p.R382fs NM_016201 NP_057285 Q9Y2J4 AMOL2_HUMAN angiomotin like 2 756 large_intestine(1) 1 AGAGGCTGCTCTCTGGCTACTG 0.629 NaN OREG0015814 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) NaN NaN NaN NaN NaN 8 44 --- --- GRK4 2868 broad.mit.edu 37 4 3015470 3015470 + Frame_Shift_Del DEL A A - TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr4:3015470delA uc003ggn.1 + 8 1111 c.656delA c.(655-657)CAAfs p.Q219fs GRK4_uc003ggo.1_Frame_Shift_Del_p.Q219fs|GRK4_uc003ggp.1_Frame_Shift_Del_p.Q187fs|GRK4_uc003ggq.1_Frame_Shift_Del_p.Q187fs NM_182982 NP_892027 P32298 GRK4_HUMAN G protein-coupled receptor kinase 4 isoform 219 Protein kinase. cell cortex ATP binding|G-protein coupled receptor kinase activity|signal transducer activity lung(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) AAAAAGCTACAAAAAAAAAGA 0.393 NaN NaN NaN NaN NaN NaN 7 371 --- --- COPS4 51138 broad.mit.edu 37 4 83978470 83978477 + Frame_Shift_Del DEL CAATGAGC CAATGAGC - TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr4:83978470_83978477delCAATGAGC uc003hoa.2 + 6 763_770 c.624_631delCAATGAGC c.(622-633)TACAATGAGCTCfs p.Y208fs COPS4_uc003hob.2_Frame_Shift_Del_p.Y208fs|COPS4_uc010ijw.2_Frame_Shift_Del_p.Y208fs|COPS4_uc010ijx.2_Frame_Shift_Del_p.Y208fs NM_016129 NP_057213 Q9BT78 CSN4_HUMAN COP9 signalosome subunit 4 208_211 PCI. cullin deneddylation cytoplasm|signalosome protein binding kidney(1) 1 Hepatocellular(203;0.114) CACAAAGGTACAATGAGCTCTCTTACAA 0.365 NaN NaN NaN NaN NaN NaN 33 48 --- --- FBN2 2201 broad.mit.edu 37 5 127647056 127647056 + Frame_Shift_Del DEL A A - TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr5:127647056delA uc003kuu.2 - 39 5449 c.5010delT c.(5008-5010)TTTfs p.F1670fs NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 1670 EGF-like 27; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) GGAAGCTCCCAAAAGTGTTGA 0.483 NaN NaN NaN NaN NaN NaN 12 44 --- --- BAT2 7916 broad.mit.edu 37 6 31602048 31602062 + In_Frame_Del DEL GGGCTCTAAGCCTGA GGGCTCTAAGCCTGA - rs139245110 TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:31602048_31602062delGGGCTCTAAGCCTGA uc003nvb.3 + 19 5004_5018 c.4755_4769delGGGCTCTAAGCCTGA c.(4753-4770)TTGGGCTCTAAGCCTGAG>TTG p.GSKPE1586del BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_In_Frame_Del_p.GSKPE1586del NM_080686 NP_542417 P48634 PRC2A_HUMAN HLA-B associated transcript-2 1586_1590 4 X 57 AA type A repeats. cytoplasm|nucleus protein binding 0 CTGGATTCTTGGGCTCTAAGCCTGAGGGCCCAGGC 0.512 NaN NaN NaN NaN NaN NaN 61 509 --- --- LAMA2 3908 broad.mit.edu 37 6 129674397 129674412 + Frame_Shift_Del DEL CCCTGTGACCCTGTCA CCCTGTGACCCTGTCA - TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr6:129674397_129674412delCCCTGTGACCCTGTCA uc003qbn.2 + 32 4717_4732 c.4612_4627delCCCTGTGACCCTGTCA c.(4612-4629)CCCTGTGACCCTGTCACAfs p.P1538fs LAMA2_uc003qbo.2_Frame_Shift_Del_p.P1538fs NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 1538_1543 Laminin EGF-like 17. 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) ACTGCCTGTGCCCTGTGACCCTGTCACAGGATTCTG 0.583 NaN NaN NaN NaN NaN NaN 23 62 --- --- ZNF804B 219578 broad.mit.edu 37 7 88965470 88965471 + Frame_Shift_Ins INS - - ATCC TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chr7:88965470_88965471insATCC uc011khi.1 + 4 3712_3713 c.3174_3175insATCC c.(3172-3177)GAAATCfs p.E1058fs NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 1058_1059 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) TAATTAGTGAAATCCAACCTTT 0.356 NaN HNSCC(36;0.09) NaN NaN NaN NaN NaN 24 93 --- --- KDM6A 7403 broad.mit.edu 37 X 44969394 44969418 + Frame_Shift_Del DEL AAGATTGTGCACGAAAAACAAGCGG AAGATTGTGCACGAAAAACAAGCGG - TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 AAGATTGTGCACGAAAAACAAGCGG - AAGATTGTGCACGAAAAACAAGCGG AAGATTGTGCACGAAAAACAAGCGG Valid Somatic Phase_I WXS Fluidigm_realigned Illumina GAIIx a5dc17f5-abda-4534-b0f8-34b59ed4faa3 97693ada-dce8-411a-9d14-8e38af034240 g.chrX:44969394_44969418delAAGATTGTGCACGAAAAACAAGCGG uc004dge.3 + 28 4451_4475 c.4076_4100delAAGATTGTGCACGAAAAACAAGCGG c.(4075-4101)CAAGATTGTGCACGAAAAACAAGCGGAfs p.Q1359fs KDM6A_uc011mkz.1_Frame_Shift_Del_p.Q1411fs|KDM6A_uc011mla.1_Frame_Shift_Del_p.Q1314fs|KDM6A_uc011mlb.1_Frame_Shift_Del_p.Q1366fs|KDM6A_uc011mlc.1_Frame_Shift_Del_p.Q1063fs|KDM6A_uc011mld.1_Frame_Shift_Del_p.Q998fs NM_021140 NP_066963 O15550 KDM6A_HUMAN ubiquitously transcribed tetratricopeptide 1359_1367 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2) 84 GTACATTGCCAAGATTGTGCACGAAAAACAAGCGGAAACTTGGAA 0.364 NaN D|N|F|S renal|oesophageal SCC|MM NaN NaN NaN NaN NaN 24 36 --- ---