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 ACHILLES_Top_Genes CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut NPHP4 261734 broad.mit.edu 37 1 5935129 5935129 + Missense_Mutation SNP C C T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr1:5935129C>T uc001alq.1 - 21 3115 c.2849G>A c.(2848-2850)CGG>CAG p.R950Q NM_015102 NP_055917 O75161 NPHP4_HUMAN nephroretinin 950 actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior cell-cell junction|centrosome|cilium|microtubule basal body protein binding|structural molecule activity pancreas(1) 1 Ovarian(185;0.0634) all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213) Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649) CTGTAGGTCCCGCAAGTGCTG 0.657 NA 12 10 0 0 0.001855 0 0 TNFRSF9 3604 broad.mit.edu 37 1 7997783 7997783 + Missense_Mutation SNP T T C TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr1:7997783T>C uc001aot.2 - 5 508 c.380A>G c.(379-381)GAT>GGT p.D127G NM_001561 NP_001552 Q07011 TNR9_HUMAN tumor necrosis factor receptor superfamily, 127 Extracellular (Potential).|TNFR-Cys 4. induction of apoptosis|negative regulation of cell proliferation integral to plasma membrane binding|receptor activity large_intestine(1)|lung(1)|ovary(1)|skin(1) 4 Ovarian(185;0.0634)|all_lung(157;0.151) all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649) ACGTTTCTGATCGTTAAATGT 0.328 NA 16 36 0 0 0.001216 0 0 PRAMEF2 65122 broad.mit.edu 37 1 12920106 12920106 + Silent SNP G G A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr1:12920106G>A uc001aum.1 + 3 933 c.846G>A c.(844-846)GGG>GGA p.G282G NM_023014 NP_075390 O60811 PRAM2_HUMAN PRAME family member 2 282 0 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TCTTCAGTGGGCACCTGGAAC 0.458 NA 39 82 0 0 0.005524 0 0 AKR7A3 22977 broad.mit.edu 37 1 19609333 19609333 + Missense_Mutation SNP C C A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr1:19609333C>A uc001bbv.1 - 7 965 c.888G>T c.(886-888)GAG>GAT p.E296D NM_012067 NP_036199 O95154 ARK73_HUMAN aldo-keto reductase family 7, member A3 296 NADP. cellular aldehyde metabolic process cytosol aldo-keto reductase (NADP) activity|electron carrier activity 0 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) CCAAGTTCTGCTCCAGCTGCT 0.612 NA 26 10 9.65963e-10 2.08398e-09 0.003271 1 0 RAP1GAP 5909 broad.mit.edu 37 1 21928252 21928252 + Missense_Mutation SNP C C A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr1:21928252C>A uc001bex.2 - 20 1835 c.1577G>T c.(1576-1578)GGG>GTG p.G526V RAP1GAP_uc001bev.2_Missense_Mutation_p.G611V|RAP1GAP_uc001bew.2_Missense_Mutation_p.G590V|RAP1GAP_uc001bey.2_Missense_Mutation_p.G552V NM_002885 NP_002876 P47736 RPGP1_HUMAN RAP1 GTPase activating protein isoform c 526 regulation of Ras GTPase activity|signal transduction cytosol|Golgi membrane|membrane fraction GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding breast(2)|ovary(1) 3 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146) TGAGACGTGCCCGCTGTCTGG 0.667 NA 12 16 9.05144e-12 2.04756e-11 0.001855 1 0 C1orf201 90529 broad.mit.edu 37 1 24687417 24687417 + Silent SNP G G A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr1:24687417G>A uc001bjc.2 - 8 987 c.852C>T c.(850-852)TTC>TTT p.F284F C1orf201_uc010oej.1_Intron|C1orf201_uc001bja.2_Silent_p.F237F|C1orf201_uc001bjb.2_Silent_p.F192F|C1orf201_uc001bjd.2_Silent_p.F284F|C1orf201_uc001bje.1_Silent_p.F237F Q5TH74 CA201_HUMAN RecName: Full=UPF0490 protein C1orf201; 284 ovary(1)|breast(1) 2 Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.0191)|all_lung(284;0.0251)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.056) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.48e-25)|Colorectal(126;7.29e-08)|COAD - Colon adenocarcinoma(152;3.85e-06)|GBM - Glioblastoma multiforme(114;0.000399)|BRCA - Breast invasive adenocarcinoma(304;0.00107)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00393)|READ - Rectum adenocarcinoma(331;0.0672)|Lung(427;0.145) CACTAGAGATGAAATGCTTGC 0.562 NA 9 85 0 0 0.000443 0 0 RPS6KA1 6195 broad.mit.edu 37 1 26887564 26887564 + Missense_Mutation SNP C C T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr1:26887564C>T uc001bmr.1 + 16 1533 c.1370C>T c.(1369-1371)TCA>TTA p.S457L RPS6KA1_uc010ofe.1_Missense_Mutation_p.S365L|RPS6KA1_uc010off.1_Missense_Mutation_p.S441L|RPS6KA1_uc001bms.1_Missense_Mutation_p.S466L|RPS6KA1_uc009vsl.1_Missense_Mutation_p.S300L NM_002953 NP_002944 Q15418 KS6A1_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 457 Protein kinase 2. axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|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|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity lung(1) 1 all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234) CGGGATCCTTCAGAAGAGATT 0.547 NA 8 49 0 0 0.004482 0 0 RPS6KA1 6195 broad.mit.edu 37 1 26887581 26887581 + Missense_Mutation SNP C C T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr1:26887581C>T uc001bmr.1 + 16 1550 c.1387C>T c.(1387-1389)CTT>TTT p.L463F RPS6KA1_uc010ofe.1_Missense_Mutation_p.L371F|RPS6KA1_uc010off.1_Missense_Mutation_p.L447F|RPS6KA1_uc001bms.1_Missense_Mutation_p.L472F|RPS6KA1_uc009vsl.1_Missense_Mutation_p.L306F NM_002953 NP_002944 Q15418 KS6A1_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 463 Protein kinase 2. axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|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|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity lung(1) 1 all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234) GATTGAGATTCTTCTGCGGTA 0.522 NA 10 48 0 0 0.000443 0 0 ARID1A 8289 broad.mit.edu 37 1 27105682 27105682 + Nonsense_Mutation SNP G G T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr1:27105682G>T uc001bmv.1 + 20 5666 c.5293G>T c.(5293-5295)GAA>TAA p.E1765* ARID1A_uc001bmu.1_Nonsense_Mutation_p.E1548*|ARID1A_uc001bmx.1_Nonsense_Mutation_p.E611*|ARID1A_uc009vsm.1_Nonsense_Mutation_p.E93*|ARID1A_uc009vsn.1_Nonsense_Mutation_p.E7* NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 1765 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 142 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) TGGGGAAGAAGAAGAAGAACT 0.493 NA Mis|N|F|S|D clear cell ovarian carcinoma|RCC 21 56 1.50039e-11 3.38314e-11 0.001882 1 0 CSF3R 1441 broad.mit.edu 37 1 36934859 36934859 + Splice_Site SNP C C T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr1:36934859C>T uc001caw.1 - 12 1653 c.1475_splice c.e12-1 p.E492_splice CSF3R_uc001cat.1_Splice_Site_p.E55_splice|CSF3R_uc009vvc.1_Intron|CSF3R_uc001cau.1_Splice_Site|CSF3R_uc001cav.1_Splice_Site_p.E492_splice|CSF3R_uc001cax.1_Splice_Site_p.E492_splice|CSF3R_uc001cay.1_Splice_Site_p.E492_splice NM_000760 NP_000751 Q99062 CSF3R_HUMAN colony stimulating factor 3 receptor isoform a cell adhesion|defense response extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(2)|ovary(1) 3 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) Filgrastim(DB00099)|Pegfilgrastim(DB00019) CTGATGTTCTCTGTAGAGAGA 0.507 NA 18 20 0 0 0.001882 0 0 MACF1 23499 broad.mit.edu 37 1 39782166 39782166 + Missense_Mutation SNP C C T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr1:39782166C>T uc010ois.1 + 29 3773 c.3568C>T c.(3568-3570)CTC>TTC p.L1190F MACF1_uc001cda.1_Missense_Mutation_p.L1098F|MACF1_uc001cdc.1_Missense_Mutation_p.L277F|MACF1_uc009vvq.1_Missense_Mutation_p.L247F|MACF1_uc001cdb.1_Missense_Mutation_p.L277F NM_012090 NP_036222 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 1190 LRR 7. 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) ACTGGCAGATCTCTCAGCTCT 0.433 NA 40 71 0 0 0.002852 0 0 MACF1 23499 broad.mit.edu 37 1 39919444 39919444 + Silent SNP C C T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr1:39919444C>T uc010oiu.1 + 53 16268 c.16137C>T c.(16135-16137)GTC>GTT p.V5379V MACF1_uc010ois.1_Silent_p.V4877V NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 6835 Spectrin 17. 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) TGGGAGAAGTCATCCTGGCTG 0.458 NA 10 158 0 0 0.000443 0 0 CCDC30 728621 broad.mit.edu 37 1 43042823 43042823 + Missense_Mutation SNP C C A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr1:43042823C>A uc009vwk.1 + 7 1098 c.988C>A c.(988-990)CAG>AAG p.Q330K CCDC30_uc001chm.2_Missense_Mutation_p.Q28K|CCDC30_uc001chn.2_Missense_Mutation_p.Q119K|CCDC30_uc010oju.1_RNA|CCDC30_uc001chp.2_Missense_Mutation_p.Q144K NM_001080850 NP_001074319 Q5VVM6 CCD30_HUMAN coiled-coil domain containing 30 330 Potential. 0 TAAACACACTCAGAGCATTAA 0.403 NA 4 32 0.000602214 0.00115328 0.000602 1 0 LRP8 7804 broad.mit.edu 37 1 53746285 53746285 + Missense_Mutation SNP C C T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr1:53746285C>T uc001cvi.1 - 4 612 c.470G>A c.(469-471)GGA>GAA p.G157E LRP8_uc001cvh.1_5'UTR|LRP8_uc001cvk.1_Missense_Mutation_p.G157E|LRP8_uc001cvj.1_Missense_Mutation_p.G157E|LRP8_uc001cvl.1_Missense_Mutation_p.G157E NM_004631 NP_004622 Q14114 LRP8_HUMAN low density lipoprotein receptor-related protein 157 LDL-receptor class A 3.|Extracellular (Potential). cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis caveola calcium ion binding|very-low-density lipoprotein particle receptor activity 0 CTCATCCGCTCCACCCTCGCA 0.632 NA 4 38 0 0 0.000248 0 0 C8A 731 broad.mit.edu 37 1 57372339 57372339 + Splice_Site SNP G G T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr1:57372339G>T uc001cyo.2 + 8 1229 c.1097_splice c.e8-1 p.G366_splice NM_000562 NP_000553 P07357 CO8A_HUMAN complement component 8, alpha polypeptide complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular space|membrane attack complex ovary(1)|central_nervous_system(1)|skin(1) 3 CCCTGTTGCAGGTATTACCAG 0.403 NA 34 53 5.8336e-16 1.38227e-15 0.003271 1 0 DEPDC1 55635 broad.mit.edu 37 1 68948046 68948046 + Missense_Mutation SNP C C A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr1:68948046C>A uc001dem.3 - 8 1562 c.1445G>T c.(1444-1446)GGT>GTT p.G482V DEPDC1_uc001dej.3_5'Flank|DEPDC1_uc001dek.3_Intron|DEPDC1_uc001del.3_Intron NM_001114120 NP_001107592 Q5TB30 DEP1A_HUMAN DEP domain containing 1 isoform a 482 intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex GTPase activator activity|protein binding 0 OV - Ovarian serous cystadenocarcinoma(397;7.21e-36) TCTCTTAAAACCAGCACTGAA 0.368 NA 24 34 6.44725e-10 1.39957e-09 0.002299 1 0 PTBP2 58155 broad.mit.edu 37 1 97270362 97270362 + Missense_Mutation SNP C C T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr1:97270362C>T uc001drq.2 + 9 1157 c.911C>T c.(910-912)CCA>CTA p.P304L PTBP2_uc001drn.2_Missense_Mutation_p.P309L|PTBP2_uc001dro.2_Missense_Mutation_p.P304L|PTBP2_uc010otz.1_Missense_Mutation_p.P320L|PTBP2_uc001drp.2_RNA|PTBP2_uc009wdw.2_Missense_Mutation_p.P252L|PTBP2_uc001drr.2_Missense_Mutation_p.P309L|PTBP2_uc010oua.1_Missense_Mutation_p.P312L|PTBP2_uc001dru.2_RNA|PTBP2_uc001drs.1_5'UTR|PTBP2_uc001drt.2_5'UTR NM_021190 NP_067013 Q9UKA9 PTBP2_HUMAN polypyrimidine tract binding protein 2 304 nucleotide binding 0 all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171) all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202) GCAGCTGTTCCAGGAGCTCTG 0.378 NA 4 51 0 0 0.000602 0 0 COL11A1 1301 broad.mit.edu 37 1 103471864 103471864 + Missense_Mutation SNP C C T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr1:103471864C>T uc001dul.2 - 16 2009 c.1691G>A c.(1690-1692)CGA>CAA p.R564Q COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.R576Q|COL11A1_uc001dun.2_Missense_Mutation_p.R525Q|COL11A1_uc009weh.2_Missense_Mutation_p.R448Q NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 564 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) CTGGACGCCTCGAGGGCCCTA 0.398 NA 5 45 0 0 0.000602 0 0 AMPD1 270 broad.mit.edu 37 1 115218551 115218551 + Missense_Mutation SNP C C G TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr1:115218551C>G uc001efe.1 - 11 1546 c.1462G>C c.(1462-1464)GAG>CAG p.E488Q AMPD1_uc001eff.1_Missense_Mutation_p.E484Q NM_000036 NP_000027 P23109 AMPD1_HUMAN adenosine monophosphate deaminase 1 (isoform M) 488 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding ovary(2)|large_intestine(1)|skin(1) 4 all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) Adenosine monophosphate(DB00131) ATGGTGGCCTCAAACACTGGC 0.463 NA 7 97 0 0 0.001984 0 0 IGSF3 3321 broad.mit.edu 37 1 117150605 117150605 + Missense_Mutation SNP C C A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr1:117150605C>A uc001egr.1 - 5 1886 c.1181G>T c.(1180-1182)AGC>ATC p.S394I IGSF3_uc001egq.1_Missense_Mutation_p.S394I|IGSF3_uc001egs.1_Missense_Mutation_p.S67I NM_001007237 NP_001007238 O75054 IGSF3_HUMAN immunoglobulin superfamily, member 3 isoform 2 394 Extracellular (Potential). integral to membrane ovary(2) 2 Lung SC(450;0.225) all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05) Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166) GGGACGCTTGCTCTCCTTATC 0.507 NA 6 127 0.00307968 0.00574052 0.00308 1 0 NBPF15 284565 broad.mit.edu 37 1 148594619 148594619 + Missense_Mutation SNP G G T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr1:148594619G>T uc001esc.2 + 19 2481 c.1992G>T c.(1990-1992)ATG>ATT p.M664I NM_173638 NP_775909 Q8N660 NBPFF_HUMAN hypothetical protein LOC284565 664 NBPF 6. cytoplasm 0 all_hematologic(923;0.032) TGTTCCAGATGGGAGTCATAT 0.443 NA 55 125 1.16018e-38 3.01475e-38 0.00361 1 0 PI4KB 5298 broad.mit.edu 37 1 151288555 151288555 + Missense_Mutation SNP C C G TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr1:151288555C>G uc001ext.2 - 2 818 c.403G>C c.(403-405)GAG>CAG p.E135Q PI4KB_uc001exr.2_Missense_Mutation_p.E147Q|PI4KB_uc001exs.2_Missense_Mutation_p.E135Q|PI4KB_uc001exu.2_Missense_Mutation_p.E135Q|PI4KB_uc010pcw.1_Intron|PI4KB_uc009wmq.1_Missense_Mutation_p.E147Q NM_002651 NP_002642 Q9UBF8 PI4KB_HUMAN catalytic phosphatidylinositol 4-kinase beta 135 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) AGTTTTGACTCAAACAGCCTC 0.522 Colon(154;765 1838 9854 28443 37492) NA 4 98 0 0 0.000248 0 0 TCHH 7062 broad.mit.edu 37 1 152083562 152083562 + Missense_Mutation SNP C C T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr1:152083562C>T uc001ezp.2 - 2 2131 c.2131G>A c.(2131-2133)GAG>AAG p.E711K TCHH_uc009wne.1_Missense_Mutation_p.E711K NM_007113 NP_009044 Q07283 TRHY_HUMAN trichohyalin 711 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) GCGTCGGCCTCGCTTTCTAGC 0.652 NA 24 209 0 0 0.00333 0 0 FLG 2312 broad.mit.edu 37 1 152281732 152281732 + Missense_Mutation SNP C C A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr1:152281732C>A uc001ezu.1 - 3 5666 c.5630G>T c.(5629-5631)GGC>GTC p.G1877V NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1877 Ser-rich.|Filaggrin 11. 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) GTGCCTGGAGCCGTCTCCTGA 0.582 NA Ichthyosis 136 367 1.56226e-53 4.07471e-53 0.00361 1 0 OR10Z1 128368 broad.mit.edu 37 1 158576487 158576487 + Missense_Mutation SNP G G T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr1:158576487G>T uc010pio.1 + 1 259 c.259G>T c.(259-261)GGG>TGG p.G87W NM_001004478 NP_001004478 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, 87 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1)|skin(1) 2 all_hematologic(112;0.0378) TGGCCTGGCTGGGGGGGACCA 0.552 NA 162 135 5.70063e-59 1.50368e-58 0.00361 1 0 SPTA1 6708 broad.mit.edu 37 1 158596715 158596715 + Missense_Mutation SNP G G C TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr1:158596715G>C uc001fst.1 - 41 5946 c.5747C>G c.(5746-5748)GCA>GGA p.A1916G NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 1916 Spectrin 18. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) AGCAGCTATTGCCTTAGCCAG 0.458 NA 113 86 0 0 0.00361 0 0 DARC 2532 broad.mit.edu 37 1 159175306 159175306 + Nonsense_Mutation SNP G G A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr1:159175306G>A uc001fto.2 + 2 317 c.77G>A c.(76-78)TGG>TAG p.W26* DARC_uc001ftp.3_Nonsense_Mutation_p.W28* NM_002036 NP_002027 Q16570 DUFFY_HUMAN Duffy blood group antigen isoform b 26 Extracellular (Potential). defense response integral to membrane|plasma membrane C-C chemokine binding|chemokine receptor activity ovary(1)|lung(1) 2 all_hematologic(112;0.0429) GAAGATGTATGGAATTCTTCC 0.537 NA 39 34 0 0 0.001951 0 0 ATP1A4 480 broad.mit.edu 37 1 160134152 160134152 + Missense_Mutation SNP A A C TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr1:160134152A>C uc001fve.3 + 7 1464 c.985A>C c.(985-987)ATC>CTC p.I329L ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_5'Flank NM_144699 NP_653300 Q13733 AT1A4_HUMAN Na+/K+ -ATPase alpha 4 subunit isoform 1 329 Helical; (Potential). ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity ovary(2)|skin(2) 4 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GCTGGAGGCTATCATTTTTCT 0.512 NA 4 272 0 0 0.000602 0 0 CASQ1 844 broad.mit.edu 37 1 160160688 160160688 + Silent SNP G G C TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr1:160160688G>C uc010pja.1 + 1 404 c.147G>C c.(145-147)GTG>GTC p.V49V NM_001231 NP_001222 P31415 CASQ1_HUMAN calsequestrin 1 49 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) TGGACCGTGTGATCAATGTCA 0.542 NA 5 90 0 0 0.001168 0 0 ITLN1 55600 broad.mit.edu 37 1 160846509 160846509 + Missense_Mutation SNP C C G TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr1:160846509C>G uc001fxc.2 - 8 1003 c.887G>C c.(886-888)GGT>GCT p.G296A NM_017625 NP_060095 Q8WWA0 ITLN1_HUMAN intelectin precursor 296 positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction anchored to membrane|brush border membrane|extracellular region|membrane raft receptor binding|sugar binding ovary(2)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1) 7 all_cancers(52;2.99e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) GCTGCTGTAACCAACATGAGT 0.502 NA 43 35 0 0 0.001706 0 0 TNN 63923 broad.mit.edu 37 1 175046636 175046636 + Missense_Mutation SNP C C G TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr1:175046636C>G uc001gkl.1 + 2 195 c.82C>G c.(82-84)CTG>GTG p.L28V TNN_uc010pmx.1_Missense_Mutation_p.L28V NM_022093 NP_071376 Q9UQP3 TENN_HUMAN tenascin N precursor 28 cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix large_intestine(5)|ovary(3)|central_nervous_system(1) 9 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) CCCAGCCACTCTGGAGCCTCC 0.592 NA 9 66 0 0 0.004482 0 0 LAX1 54900 broad.mit.edu 37 1 203743051 203743051 + Missense_Mutation SNP G G A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr1:203743051G>A uc001haa.2 + 5 849 c.439G>A c.(439-441)GCC>ACC p.A147T LAX1_uc010pql.1_Missense_Mutation_p.A131T|LAX1_uc001hab.2_Missense_Mutation_p.A71T NM_017773 NP_060243 Q8IWV1 LAX1_HUMAN lymphocyte transmembrane adaptor 1 isoform a 147 Cytoplasmic (Potential). B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation Golgi apparatus|integral to membrane|plasma membrane protein kinase binding|SH2 domain binding central_nervous_system(2) 2 all_cancers(21;0.0915) BRCA - Breast invasive adenocarcinoma(75;0.109) CCACATCCATGCCACAGAGTA 0.537 NA 31 65 0 0 0.002836 0 0 MIA3 375056 broad.mit.edu 37 1 222805617 222805617 + Missense_Mutation SNP C C G TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr1:222805617C>G uc001hnl.2 + 5 3289 c.3280C>G c.(3280-3282)CAT>GAT p.H1094D MIA3_uc009xea.1_Missense_Mutation_p.H930D NM_198551 NP_940953 Q5JRA6 MIA3_HUMAN melanoma inhibitory activity family, member 3 1094 Extracellular (Potential). exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing endoplasmic reticulum membrane|integral to membrane protein binding ovary(4)|central_nervous_system(1) 5 GBM - Glioblastoma multiforme(131;0.0199) TGGGGACACTCATGCCTCAGA 0.443 NA 9 117 0 0 0.000978 0 0 HIST3H3 8290 broad.mit.edu 37 1 228612884 228612884 + Missense_Mutation SNP G G T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr1:228612884G>T uc001hsx.1 - 1 143 c.143C>A c.(142-144)GCG>GAG p.A48E NM_003493 NP_003484 Q16695 H31T_HUMAN histone cluster 3, H3 48 nucleosome assembly|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding 0 Prostate(94;0.0724) CTCGCGAAGCGCCACCGTGCC 0.657 NA 67 64 2.36135e-34 6.06833e-34 0.00361 1 0 CAPN9 10753 broad.mit.edu 37 1 230904925 230904925 + Splice_Site SNP G G C TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr1:230904925G>C uc001htz.1 + 6 819 c.706_splice c.e6-1 p.T236_splice CAPN9_uc009xfg.1_Splice_Site_p.T173_splice|CAPN9_uc001hua.1_Splice_Site_p.T236_splice NM_006615 NP_006606 O14815 CAN9_HUMAN calpain 9 isoform 1 digestion|proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity ovary(1) 1 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) CCATGTTTTAGACCAGAAGTG 0.547 NA 3 144 0 0 0.000248 0 0 OR2G3 81469 broad.mit.edu 37 1 247769413 247769413 + Missense_Mutation SNP C C T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr1:247769413C>T uc010pyz.1 + 1 526 c.526C>T c.(526-528)CAT>TAT p.H176Y NM_001001914 NP_001001914 Q8NGZ4 OR2G3_HUMAN olfactory receptor, family 2, subfamily G, 176 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) TAGGCTGGACCATTTTATTTG 0.448 NA 67 48 0 0 0.00361 0 0 AKR1C1 1645 broad.mit.edu 37 10 5008225 5008225 + Missense_Mutation SNP G G C TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr10:5008225G>C uc001iho.2 + 7 1045 c.204G>C c.(202-204)AAG>AAC p.K68N AKR1E2_uc001ihl.1_Intron|AKR1C2_uc010qan.1_Intron|AKR1C3_uc001ihr.2_Missense_Mutation_p.K68N|AKR1C1_uc009xhx.2_Missense_Mutation_p.K68N|AKR1C1_uc001ihq.2_Missense_Mutation_p.K68N NM_001353 NP_001344 Q04828 AK1C1_HUMAN aldo-keto reductase family 1, member C1 68 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) TCCGAAGCAAGATTGCAGATG 0.433 Colon(130;2054 2316 13360 15380) NA 32 35 0 0 0.003755 0 0 APBB1IP 54518 broad.mit.edu 37 10 26785270 26785270 + Missense_Mutation SNP A A T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr10:26785270A>T uc001iss.2 + 4 431 c.110A>T c.(109-111)AAT>ATT p.N37I APBB1IP_uc001isr.2_Missense_Mutation_p.N37I|APBB1IP_uc009xks.1_Missense_Mutation_p.N37I NM_019043 NP_061916 Q7Z5R6 AB1IP_HUMAN amyloid beta (A4) precursor protein-binding, 37 blood coagulation|signal transduction cytoskeleton|cytosol|focal adhesion|lamellipodium lung(4)|skin(2)|central_nervous_system(1) 7 CCTGACCCTAATCCACCCAGA 0.353 NA 19 42 0 0 0.002299 0 0 ANKRD26 22852 broad.mit.edu 37 10 27366275 27366275 + Missense_Mutation SNP G G C TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr10:27366275G>C uc001ith.2 - 9 1241 c.1069C>G c.(1069-1071)CTT>GTT p.L357V ANKRD26_uc001itg.2_Missense_Mutation_p.L76V|ANKRD26_uc009xku.1_Missense_Mutation_p.L357V NM_014915 NP_055730 Q9UPS8 ANR26_HUMAN ankyrin repeat domain 26 357 centrosome large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1) 4 ACCTTCATAAGACCAGGGTTT 0.348 NA 8 62 0 0 0.00308 0 0 PTCHD3 374308 broad.mit.edu 37 10 27702381 27702381 + Missense_Mutation SNP G G T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr10:27702381G>T uc001itu.2 - 1 917 c.799C>A c.(799-801)CCG>ACG p.P267T NM_001034842 NP_001030014 Q3KNS1 PTHD3_HUMAN patched domain containing 3 267 spermatid development integral to membrane hedgehog receptor activity ovary(2)|pancreas(1)|skin(1) 4 TACAGGATCGGGTTGGGGGGC 0.647 NA 12 21 0.000978159 0.00185294 0.000978 1 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + Missense_Mutation SNP A A G rs2257765 TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr10:38654432A>G uc010qex.1 + 5 599 c.524A>G c.(523-525)AAT>AGT p.N175S HSD17B7P2_uc001izq.2_RNA|HSD17B7P2_uc001izo.1_RNA|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S SubName: Full=cDNA FLJ60462, highly similar to 3-keto-steroid reductase (EC 1.1.1.270); 0 TCATCTCGCAATGCAAGGAAA 0.453 NA 4 38 0 0 0.000248 0 0 RBP3 5949 broad.mit.edu 37 10 48388286 48388286 + Silent SNP C C A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr10:48388286C>A uc001jez.2 - 1 2706 c.2592G>T c.(2590-2592)CGG>CGT p.R864R NM_002900 NP_002891 P10745 RET3_HUMAN retinol-binding protein 3 precursor 864 4 X approximate tandem repeats.|3. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity large_intestine(1)|central_nervous_system(1) 2 Vitamin A(DB00162) TGACCGTGGCCCGCTGCAGGT 0.642 NA 6 17 0.00116845 0.00220741 0.001168 1 0 PPA1 5464 broad.mit.edu 37 10 71966081 71966081 + Missense_Mutation SNP G G A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr10:71966081G>A uc001jqv.1 - 9 841 c.734C>T c.(733-735)ACA>ATA p.T245I NM_021129 NP_066952 Q15181 IPYR_HUMAN pyrophosphatase 1 245 diphosphate metabolic process|tRNA aminoacylation for protein translation cytosol inorganic diphosphatase activity|magnesium ion binding breast(1) 1 AGACAAAGTTGTATTCATGCT 0.343 NA 11 15 0 0 0.000978 0 0 MYOZ1 58529 broad.mit.edu 37 10 75397659 75397659 + Missense_Mutation SNP A A G TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr10:75397659A>G uc001jur.2 - 3 460 c.95T>C c.(94-96)TTG>TCG p.L32S NM_021245 NP_067068 Q9NP98 MYOZ1_HUMAN myozenin 1 32 myofibril assembly nucleus|pseudopodium FATZ binding ovary(2) 2 Prostate(51;0.0112) GCCCAGGTTCAAGCCTGAGCT 0.512 NA 11 134 0 0 0.001368 0 0 DLG5 9231 broad.mit.edu 37 10 79553869 79553869 + Missense_Mutation SNP C C G TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr10:79553869C>G uc001jzk.2 - 31 5623 c.5553G>C c.(5551-5553)CAG>CAC p.Q1851H DLG5_uc001jzi.2_Missense_Mutation_p.Q606H|DLG5_uc001jzj.2_Missense_Mutation_p.Q1266H NM_004747 NP_004738 Q8TDM6 DLG5_HUMAN discs large homolog 5 1851 Guanylate kinase-like. cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity ovary(5)|breast(3) 8 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) TGGGGTCTCTCTGCTCCCTGT 0.587 NA 4 77 0 0 0.000248 0 0 CNNM1 26507 broad.mit.edu 37 10 101090472 101090472 + Missense_Mutation SNP G G T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr10:101090472G>T uc001kpp.3 + 1 1617 c.1328G>T c.(1327-1329)CGC>CTC p.R443L CNNM1_uc009xwe.2_Missense_Mutation_p.R443L|CNNM1_uc010qpi.1_Missense_Mutation_p.R443L|CNNM1_uc009xwf.2_Missense_Mutation_p.R443L NM_020348 NP_065081 Q9NRU3 CNNM1_HUMAN cyclin M1 443 CBS 1. ion transport integral to membrane|plasma membrane 0 Colorectal(252;0.234) Epithelial(162;6.82e-10)|all cancers(201;5.62e-08) TTCATGCTGCGCTCAGACGCG 0.612 NA 19 20 1.10923e-09 2.37838e-09 0.00278 1 0 PNLIPRP1 5407 broad.mit.edu 37 10 118360673 118360673 + Missense_Mutation SNP G G C TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr10:118360673G>C uc001lco.1 + 10 1041 c.1023G>C c.(1021-1023)CAG>CAC p.Q341H PNLIPRP1_uc001lcp.2_Missense_Mutation_p.Q341H NM_006229 NP_006220 P54315 LIPR1_HUMAN pancreatic lipase-related protein 1 precursor 341 lipid metabolic process calcium ion binding|triglyceride lipase activity ovary(1)|breast(1) 2 all cancers(201;0.0161) AAGAGCAGCAGAAATTCTTCT 0.438 NA 3 46 0 0 0.004672 0 0 HTRA1 5654 broad.mit.edu 37 10 124248975 124248975 + Missense_Mutation SNP G G T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr10:124248975G>T uc001lgj.2 + 3 738 c.610G>T c.(610-612)GGG>TGG p.G204W NM_002775 NP_002766 Q92743 HTRA1_HUMAN HtrA serine peptidase 1 precursor 204 Serine protease. proteolysis|regulation of cell growth extracellular space insulin-like growth factor binding|serine-type endopeptidase activity 0 all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238) GGTGGCTAGTGGGTCTGGGTT 0.493 NA 43 65 1.51926e-22 3.80631e-22 0.00361 1 0 NKX6-2 84504 broad.mit.edu 37 10 134598651 134598651 + Silent SNP G G T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr10:134598651G>T uc001llr.2 - 3 688 c.603C>A c.(601-603)ACC>ACA p.T201T NM_177400 NP_796374 Q9C056 NKX62_HUMAN NK6 transcription factor related, locus 2 201 Homeobox. nucleus sequence-specific DNA binding transcription factor activity 0 all_cancers(35;2.79e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0584)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;4.06e-05)|Epithelial(32;5.53e-05)|all cancers(32;5.99e-05) TGCGCCACTTGGTCCGGCGGT 0.637 NA 13 19 1.05317e-09 2.26513e-09 0.00245 1 0 KRTAP5-5 439915 broad.mit.edu 37 11 1651399 1651399 + Missense_Mutation SNP G G A rs77602976 TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr11:1651399G>A uc001lty.2 + 1 367 c.329G>A c.(328-330)GGC>GAC p.G110D NM_001001480 NP_001001480 Q701N2 KRA55_HUMAN keratin associated protein 5-5 110 8 X 4 AA repeats of C-C-X-P. Missing (in Ref. 1; BAD20201 and 2; CAF31639). keratin filament lung(1) 1 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) GGGGCCTGTGGCTCCTGTGGG 0.692 NA 26 47 0 0 0.001271 0 0 OR51V1 283111 broad.mit.edu 37 11 5220994 5220994 + Missense_Mutation SNP G G T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr11:5220994G>T uc010qyz.1 - 1 937 c.937C>A c.(937-939)CTT>ATT p.L313I NM_001004760 NP_001004760 Q9H2C8 O51V1_HUMAN olfactory receptor, family 51, subfamily V, 313 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AAGAGTCTAAGCATTCTGGTA 0.373 NA 9 31 0.000274275 0.000529609 0.004482 1 0 OR52H1 390067 broad.mit.edu 37 11 5566148 5566148 + Silent SNP G G A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr11:5566148G>A uc010qzh.1 - 1 606 c.606C>T c.(604-606)ATC>ATT p.I202I HBG2_uc001mak.1_Intron NM_001005289 NP_001005289 Q8NGJ2 O52H1_HUMAN olfactory receptor, family 52, subfamily H, 202 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACCAGAAGTTGATGGAGATAT 0.498 NA 5 48 0 0 0.000602 0 0 SOX6 55553 broad.mit.edu 37 11 16208467 16208467 + Missense_Mutation SNP C C A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr11:16208467C>A uc001mme.2 - 5 642 c.609G>T c.(607-609)CAG>CAT p.Q203H SOX6_uc001mmd.2_Missense_Mutation_p.Q193H|SOX6_uc001mmf.2_Missense_Mutation_p.Q190H|SOX6_uc001mmg.2_Missense_Mutation_p.Q190H NM_001145819 NP_001139291 P35712 SOX6_HUMAN SRY (sex determining region Y)-box 6 isoform 4 190 Potential. muscle organ development nucleus sequence-specific DNA binding transcription factor activity ovary(3) 3 TGGTGGAGAGCTGCCGTTCTT 0.473 NA 52 82 8.99859e-20 2.21479e-19 0.00361 1 0 PTPN5 84867 broad.mit.edu 37 11 18763858 18763858 + Missense_Mutation SNP C C T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr11:18763858C>T uc001mpd.2 - 7 1107 c.676G>A c.(676-678)GAG>AAG p.E226K PTPN5_uc001mpb.2_Missense_Mutation_p.E194K|PTPN5_uc001mpc.2_Missense_Mutation_p.E226K|PTPN5_uc001mpe.2_Missense_Mutation_p.E194K|PTPN5_uc010rdj.1_Missense_Mutation_p.E170K|PTPN5_uc001mpf.2_Missense_Mutation_p.E202K|PTPN5_uc010rdk.1_Missense_Mutation_p.E171K NM_006906 NP_008837 P54829 PTN5_HUMAN protein-tyrosine-phosphatase non-receptor 5 226 integral to membrane phosphotyrosine binding|protein tyrosine phosphatase activity ovary(2) 2 GGGTCAGCCTCAGGCTTGATG 0.597 NA 10 77 0 0 0.000673 0 0 MRGPRX1 259249 broad.mit.edu 37 11 18956162 18956162 + Missense_Mutation SNP C C T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr11:18956162C>T uc001mpg.2 - 1 388 c.170G>A c.(169-171)CGC>CAC p.R57H NM_147199 NP_671732 Q96LB2 MRGX1_HUMAN MAS-related GPR, member X1 57 Cytoplasmic (Potential). acute-phase response integral to membrane|plasma membrane G-protein coupled receptor activity pancreas(2)|central_nervous_system(1) 3 GGCGTTCCTGCGCATGCGGCA 0.557 NA 41 135 0 0 0.001706 0 0 SLC5A12 159963 broad.mit.edu 37 11 26702698 26702698 + Missense_Mutation SNP G G T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr11:26702698G>T uc001mra.2 - 12 1692 c.1379C>A c.(1378-1380)CCT>CAT p.P460H SLC5A12_uc001mrb.2_RNA NM_178498 NP_848593 Q1EHB4 SC5AC_HUMAN solute carrier family 5 (sodium/glucose 460 Extracellular (Potential). sodium ion transport apical plasma membrane|integral to membrane symporter activity ovary(1)|skin(1) 2 GGCTGGTGCAGGGTAAATGAA 0.473 NA 12 15 0.000978159 0.00185294 0.000978 1 0 CAT 847 broad.mit.edu 37 11 34492577 34492577 + Missense_Mutation SNP G G A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr11:34492577G>A uc001mvm.2 + 12 1590 c.1507G>A c.(1507-1509)GAG>AAG p.E503K CAT_uc001mvn.2_Missense_Mutation_p.E112K NM_001752 NP_001743 P04040 CATA_HUMAN catalase 503 hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection peroxisomal matrix|peroxisomal membrane catalase activity|heme binding|NADP binding|protein homodimerization activity ovary(2)|pancreas(1) 3 Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027) BRCA - Breast invasive adenocarcinoma(625;0.000995) Fomepizole(DB01213) GTACAATGCTGAGAAGCCTAA 0.512 NA 38 68 0 0 0.005524 0 0 LRP4 4038 broad.mit.edu 37 11 46880824 46880825 + Missense_Mutation DNP CG CG AA TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 CG CG - - CG CG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr11:46880824_46880825CG>AA uc001ndn.3 - 38 5573_5574 c.5427_5428CG>TT c.(5425-5430)ATCGTA>ATTTTA p.V1810L uc001ndl.2_Intron|LRP4_uc001ndm.3_Missense_Mutation_p.V52L NM_002334 NP_002325 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 1810 Cytoplasmic (Potential). 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) ATTCCCTCTACGATCTTGATCT 0.55 NA 24 32 0 0 0.004672 0 0 OR4C16 219428 broad.mit.edu 37 11 55339784 55339784 + Missense_Mutation SNP C C T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr11:55339784C>T uc010rih.1 + 1 181 c.181C>T c.(181-183)CTT>TTT p.L61F NM_001004701 NP_001004701 Q8NGL9 OR4CG_HUMAN olfactory receptor, family 4, subfamily C, 61 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_epithelial(135;0.0748) GTTCTTCTTCCTTTTCTACTT 0.398 NA 36 72 0 0 0.003271 0 0 OR4S2 219431 broad.mit.edu 37 11 55419048 55419048 + Silent SNP G G A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr11:55419048G>A uc001nhs.1 + 1 669 c.669G>A c.(667-669)CTG>CTA p.L223L NM_001004059 NP_001004059 Q8NH73 OR4S2_HUMAN olfactory receptor, family 4, subfamily S, 223 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_epithelial(135;0.0748) TAGTTTCCCTGAGAAAGCAGT 0.483 NA 6 109 0 0 0.001168 0 0 OR9Q1 219956 broad.mit.edu 37 11 57947780 57947780 + Silent SNP C C A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr11:57947780C>A uc001nmj.2 + 3 1180 c.864C>A c.(862-864)ATC>ATA p.I288I NM_001005212 NP_001005212 Q8NGQ5 OR9Q1_HUMAN olfactory receptor, family 9, subfamily Q, 288 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(21;0.222) ATCCCCTCATCTACAGCCTGA 0.463 NA 25 48 6.38683e-12 1.44948e-11 0.001512 1 0 AHNAK 79026 broad.mit.edu 37 11 62298096 62298096 + Missense_Mutation SNP G G A rs150191644 TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr11:62298096G>A uc001ntl.2 - 5 4093 c.3793C>T c.(3793-3795)CCT>TCT p.P1265S AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 1265 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) TTGAAGCCAGGCATGCTAAAC 0.522 NA 137 254 0 0 0.00361 0 0 SCYL1 57410 broad.mit.edu 37 11 65293594 65293594 + Splice_Site SNP G G A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr11:65293594G>A uc001oea.1 + 4 453 c.376_splice c.e4-1 p.K126_splice SCYL1_uc009yqk.2_Splice_Site_p.K126_splice|SCYL1_uc001oeb.1_Splice_Site_p.K126_splice|SCYL1_uc001oec.1_Splice_Site_p.K126_splice|SCYL1_uc001oed.1_Splice_Site NM_020680 NP_065731 Q96KG9 NTKL_HUMAN SCY1-like 1 isoform A regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus ATP binding|DNA binding|protein tyrosine kinase activity skin(1) 1 TTTGCCCCCAGAAAGCCCTCA 0.627 NA 19 17 0 0 0.001216 0 0 KDM2A 22992 broad.mit.edu 37 11 67021879 67021879 + Silent SNP C C G TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr11:67021879C>G uc001ojw.2 + 20 4161 c.3297C>G c.(3295-3297)CTC>CTG p.L1099L KDM2A_uc001ojx.2_RNA|KDM2A_uc001ojy.2_Silent_p.L793L|KDM2A_uc001ojz.1_Silent_p.L557L|KDM2A_uc001oka.2_Silent_p.L223L NM_012308 NP_036440 Q9Y2K7 KDM2A_HUMAN F-box and leucine-rich repeat protein 11 1099 LRR 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding ovary(4)|lung(3)|breast(1)|skin(1) 9 TCACAGAGCTCAATATGGCAG 0.537 NA 35 54 0 0 0.001287 0 0 ARRB1 408 broad.mit.edu 37 11 75001077 75001077 + Silent SNP G G A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr11:75001077G>A uc001owe.1 - 2 249 c.27C>T c.(25-27)TTC>TTT p.F9F ARRB1_uc001owf.1_Silent_p.F9F NM_004041 NP_004032 P49407 ARRB1_HUMAN arrestin beta 1 isoform A 9 Interaction with SRC (By similarity). G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding breast(2) 2 TGGCCTTCTTGAACACTCTGT 0.587 NA 27 39 0 0 0.002096 0 0 GAB2 9846 broad.mit.edu 37 11 77991824 77991824 + Missense_Mutation SNP C C T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr11:77991824C>T uc001ozh.2 - 2 199 c.199G>A c.(199-201)GAG>AAG p.E67K GAB2_uc001ozg.2_Missense_Mutation_p.E29K NM_080491 NP_536739 Q9UQC2 GAB2_HUMAN GRB2-associated binding protein 2 isoform a 67 PH. osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation cytosol|plasma membrane phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity ovary(5)|lung(1) 6 all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.58e-23) TCTACCTGCTCACAGAAGTTC 0.507 NA 41 61 0 0 0.001951 0 0 CREBZF 58487 broad.mit.edu 37 11 85375271 85375271 + Missense_Mutation SNP C C T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr11:85375271C>T uc001pas.2 - 1 912 c.649G>A c.(649-651)GCT>ACT p.A217T CREBZF_uc010rtc.1_RNA|CREBZF_uc010rtd.1_RNA NM_001039618 NP_001034707 Q9NS37 ZHANG_HUMAN HCF-binding transcription factor Zhangfei 217 Basic motif. negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) AGGCGGgcagcggccgccgcc 0.294 NSCLC(172;674 2044 9050 18334 41735) NA OREG0021274 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 66 0 0 0.000673 0 0 ATM 472 broad.mit.edu 37 11 108196896 108196896 + Missense_Mutation SNP C C T rs56009889 byFrequency TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr11:108196896C>T uc001pkb.1 + 47 7304 c.6919C>T c.(6919-6921)CTT>TTT p.L2307F ATM_uc009yxr.1_Missense_Mutation_p.L2307F|C11orf65_uc010rvx.1_Intron|ATM_uc001pke.1_Missense_Mutation_p.L959F|ATM_uc001pkg.1_Missense_Mutation_p.L664F NM_000051 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated isoform 1 2307 FAT. L -> F. cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1) 240 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) GGAGCAGAGTCTTGCCCTGAG 0.403 NA D|Mis|N|F|S T-PLL leukemia|lymphoma|medulloblastoma|glioma Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Ataxia_Telangiectasia TSP Lung(14;0.12) 17 24 0 0 0.006122 0 0 MLL 4297 broad.mit.edu 37 11 118375477 118375477 + Missense_Mutation SNP A A G TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr11:118375477A>G uc001pta.2 + 27 8884 c.8861A>G c.(8860-8862)GAC>GGC p.D2954G MLL_uc001ptb.2_Missense_Mutation_p.D2957G NM_005933 NP_005924 Q03164 MLL1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2954 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) GTTATCTCAGACTCAGGGGAG 0.517 NA 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 21 39 0 0 0.001882 0 0 TRAPPC4 51399 broad.mit.edu 37 11 118892538 118892538 + Missense_Mutation SNP G G A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr11:118892538G>A uc010ryo.1 + 4 788 c.523G>A c.(523-525)GAG>AAG p.E175K TRAPPC4_uc010ryp.1_Missense_Mutation_p.E121K|TRAPPC4_uc001pup.2_RNA|TRAPPC4_uc010ryq.1_Intron NM_016146 NP_057230 Q9Y296 TPPC4_HUMAN trafficking protein particle complex 4 175 dendrite development|ER to Golgi vesicle-mediated transport cis-Golgi network|dendrite|endoplasmic reticulum|Golgi stack|synaptic vesicle protein binding 0 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243) BRCA - Breast invasive adenocarcinoma(274;7.58e-05) AAAGATTTATGAGATTTACTC 0.438 NA 8 77 0 0 0.00308 0 0 OR6M1 390261 broad.mit.edu 37 11 123676362 123676362 + Silent SNP C C T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr11:123676362C>T uc010rzz.1 - 1 696 c.696G>A c.(694-696)CAG>CAA p.Q232Q NM_001005325 NP_001005325 Q8NGM8 OR6M1_HUMAN olfactory receptor, family 6, subfamily M, 232 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028) AAAAAGCTTTCTGACGGCCCT 0.512 NA 4 31 0 0 0.000248 0 0 OR10G7 390265 broad.mit.edu 37 11 123908901 123908901 + Missense_Mutation SNP C C A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr11:123908901C>A uc001pzq.1 - 1 808 c.808G>T c.(808-810)GTT>TTT p.V270F NM_001004463 NP_001004463 Q8NGN6 O10G7_HUMAN olfactory receptor, family 10, subfamily G, 270 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) ACGGCCACAACCCCATGCAAG 0.507 NA 23 35 1.10513e-12 2.52447e-12 0.002299 1 0 PRB4 5545 broad.mit.edu 37 12 11463272 11463272 + Nonsense_Mutation SNP C C A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr12:11463272C>A uc001qzf.1 - 1 95 c.61G>T c.(61-63)GAA>TAA p.E21* PRB4_uc001qzt.2_Nonsense_Mutation_p.E21* NM_002723 NP_002714 P10163 PRB4_HUMAN proline-rich protein BstNI subfamily 4 21 extracellular region ovary(1) 1 GTTTTACCTTCACTTGAACTC 0.532 NA HNSCC(22;0.051) 54 100 1.7104e-27 4.36339e-27 0.00361 1 0 GRIN2B 2904 broad.mit.edu 37 12 13761752 13761752 + Missense_Mutation SNP A A T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr12:13761752A>T uc001rbt.2 - 9 1974 c.1795T>A c.(1795-1797)TCT>ACT p.S599T NM_000834 NP_000825 Q13224 NMDE2_HUMAN N-methyl-D-aspartate receptor subunit 2B 599 Cytoplasmic (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding central_nervous_system(4)|ovary(3)|skin(3)|lung(2) 12 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) ATGGTGAAAGAGGGTCCACCA 0.502 NA 19 32 0 0 0.001523 0 0 SOX5 6660 broad.mit.edu 37 12 24048791 24048791 + Missense_Mutation SNP G G T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr12:24048791G>T uc001rfw.2 - 2 308 c.206C>A c.(205-207)CCA>CAA p.P69Q SOX5_uc001rfx.2_Missense_Mutation_p.P56Q|SOX5_uc001rfy.2_Missense_Mutation_p.P56Q|SOX5_uc010siv.1_Missense_Mutation_p.P56Q|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Intron|SOX5_uc001rga.2_Intron NM_006940 NP_008871 P35711 SOX5_HUMAN SRY (sex determining region Y)-box 5 isoform a 69 transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(5)|lung(1) 6 CAGAGAAACTGGCTGAAATTC 0.488 NA 77 123 1.19893e-55 3.13876e-55 0.00361 1 0 ITPR2 3709 broad.mit.edu 37 12 26835601 26835601 + Nonsense_Mutation SNP G G C TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr12:26835601G>C uc001rhg.2 - 12 1571 c.1154C>G c.(1153-1155)TCA>TGA p.S385* NM_002223 NP_002214 Q14571 ITPR2_HUMAN inositol 1,4,5-triphosphate receptor, type 2 385 Cytoplasmic (Potential).|MIR 5. 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) CCGAACATATGAGTTCCTAAA 0.294 NA 3 48 0 0 0.004672 0 0 ALG10B 144245 broad.mit.edu 37 12 38714293 38714293 + Missense_Mutation SNP C C G TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr12:38714293C>G uc001rln.3 + 3 839 c.700C>G c.(700-702)CTT>GTT p.L234V ALG10B_uc001rlo.3_Missense_Mutation_p.L204V|ALG10B_uc010skk.1_Missense_Mutation_p.L174V NM_001013620 NP_001013642 Q5I7T1 AG10B_HUMAN asparagine-linked glycosylation 10 homolog B 234 Cytoplasmic (Potential). dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane|plasma membrane dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity ovary(2)|skin(1) 3 Esophageal squamous(101;0.187) Lung NSC(34;0.204)|all_lung(34;0.235) CAGAAAAATTCTTCAGTTTCT 0.373 NA 7 95 0 0 0.00308 0 0 EIF4B 1975 broad.mit.edu 37 12 53421875 53421875 + Silent SNP C C T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr12:53421875C>T uc001sbh.3 + 8 1088 c.882C>T c.(880-882)GGC>GGT p.G294G EIF4B_uc010snu.1_Silent_p.G294G|EIF4B_uc010snv.1_Silent_p.G255G|EIF4B_uc001sbi.2_Silent_p.G46G NM_001417 NP_001408 P23588 IF4B_HUMAN eukaryotic translation initiation factor 4B 294 Arg-rich.|Asp-rich. insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex nucleotide binding|translation initiation factor activity breast(1)|kidney(1) 2 ACAGAGGAGGCGGGGACCGCT 0.488 NA 10 74 0 0 0.000673 0 0 MAP3K12 7786 broad.mit.edu 37 12 53879207 53879207 + Nonsense_Mutation SNP T T A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr12:53879207T>A uc001sdm.1 - 6 873 c.775A>T c.(775-777)AAG>TAG p.K259* MAP3K12_uc001sdn.1_Nonsense_Mutation_p.K292* NM_006301 NP_006292 Q12852 M3K12_HUMAN mitogen-activated protein kinase kinase kinase 259 Protein kinase. histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation cytosol|membrane fraction|plasma membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding lung(2)|ovary(1)|breast(1)|skin(1) 5 CTCAGCTCCTTGGAAGTGCCA 0.532 NA 84 143 0 0 0.00361 0 0 OR9K2 441639 broad.mit.edu 37 12 55524082 55524082 + Missense_Mutation SNP G G T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr12:55524082G>T uc010spe.1 + 1 530 c.530G>T c.(529-531)GGC>GTC p.G177V NM_001005243 NP_001005243 Q8NGE7 OR9K2_HUMAN olfactory receptor, family 9, subfamily K, 177 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|pancreas(1) 2 TATTTTTGTGGCTGCATTAGC 0.453 NA 37 62 2.75727e-19 6.76257e-19 0.004878 1 0 DPY19L2 283417 broad.mit.edu 37 12 64062106 64062106 + Missense_Mutation SNP C C A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr12:64062106C>A uc001srp.1 - 1 249 c.68G>T c.(67-69)CGC>CTC p.R23L DPY19L2_uc009zqk.1_RNA NM_173812 NP_776173 Q6NUT2 D19L2_HUMAN dpy-19-like 2 23 multicellular organismal development|spermatid development integral to membrane central_nervous_system(1)|skin(1) 2 GBM - Glioblastoma multiforme(1;2.77e-05) GBM - Glioblastoma multiforme(28;0.044) GGAGGCCCCGCGCCGCCCCTT 0.622 NA 14 21 2.62699e-14 6.12088e-14 0.003163 1 0 PWP1 11137 broad.mit.edu 37 12 108086843 108086843 + Missense_Mutation SNP G G A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr12:108086843G>A uc001tmo.1 + 5 559 c.472G>A c.(472-474)GAA>AAA p.E158K PWP1_uc001tmn.1_RNA|PWP1_uc009zuu.1_Missense_Mutation_p.E158K NM_007062 NP_008993 Q13610 PWP1_HUMAN periodic tryptophan protein 1 158 transcription, DNA-dependent nucleus 0 TGGCCGAGCTGAACAGGACCA 0.338 NA 4 36 0 0 0.000248 0 0 WSCD2 9671 broad.mit.edu 37 12 108604015 108604015 + Missense_Mutation SNP C C A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr12:108604015C>A uc001tms.2 + 4 1359 c.615C>A c.(613-615)AGC>AGA p.S205R WSCD2_uc001tmt.2_Missense_Mutation_p.S205R NM_014653 NP_055468 Q2TBF2 WSCD2_HUMAN WSC domain containing 2 205 WSC 1. integral to membrane ovary(1)|large_intestine(1)|breast(1) 3 AGCGAGGCAGCGTGTGCGGCG 0.682 NA 11 5 4.68919e-08 9.66886e-08 0.000673 1 0 SSH1 54434 broad.mit.edu 37 12 109182309 109182309 + Missense_Mutation SNP C C A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr12:109182309C>A uc001tnm.2 - 15 2692 c.2605G>T c.(2605-2607)GGC>TGC p.G869C SSH1_uc001tnl.2_Missense_Mutation_p.G557C NM_018984 NP_061857 Q8WYL5 SSH1_HUMAN slingshot 1 isoform 1 869 actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(4) 4 ACCAGGGGGCCCAGCTCGTGG 0.672 NA 24 28 5.35356e-11 1.18798e-10 0.00278 1 0 MYO1H 283446 broad.mit.edu 37 12 109862602 109862602 + Missense_Mutation SNP C C A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr12:109862602C>A uc010sxn.1 + 16 1646 c.1646C>A c.(1645-1647)GCC>GAC p.A549D NM_001101421 NP_001094891 Q8N1T3 MYO1H_HUMAN myosin 1H Error:Variant_position_missing_in_B4DNW6_after_alignment myosin complex motor activity 0 TTCCTGCTGGCCGAGTTAGAA 0.493 NA 12 13 0.00136819 0.00257781 0.001368 1 0 KDM2B 84678 broad.mit.edu 37 12 121881557 121881557 + Missense_Mutation SNP G G A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr12:121881557G>A uc001uat.2 - 17 2595 c.2491C>T c.(2491-2493)CTC>TTC p.L831F KDM2B_uc001uaq.2_Missense_Mutation_p.L271F|KDM2B_uc010szy.1_Missense_Mutation_p.L271F|KDM2B_uc001uar.2_Missense_Mutation_p.L422F|KDM2B_uc001uas.2_Intron|KDM2B_uc001uau.2_Intron|KDM2B_uc001uao.2_Missense_Mutation_p.L79F|KDM2B_uc010szx.1_Missense_Mutation_p.L79F|KDM2B_uc001uap.2_RNA NM_032590 NP_115979 Q8NHM5 KDM2B_HUMAN F-box and leucine-rich repeat protein 10 isoform 831 embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding ovary(1)|skin(1) 2 CTCGGCGAGAGGTGAGAGGAG 0.627 NA OREG0022201 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 44 0 0 0.001855 0 0 TMEM120B 144404 broad.mit.edu 37 12 122150869 122150869 + Missense_Mutation SNP A A T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr12:122150869A>T uc001ubc.3 + 1 212 c.68A>T c.(67-69)CAG>CTG p.Q23L TMEM120B_uc009zxh.2_Missense_Mutation_p.Q23L NM_001080825 NP_001074294 A0PK00 T120B_HUMAN transmembrane protein 120B 23 Potential. integral to membrane 0 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238) CAAGAACTGCAGGTAGGGCCA 0.701 NA 7 12 0 0 0.001984 0 0 SACS 26278 broad.mit.edu 37 13 23913577 23913577 + Nonsense_Mutation SNP C C A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr13:23913577C>A uc001uon.2 - 10 5027 c.4438G>T c.(4438-4440)GAA>TAA p.E1480* SACS_uc001uoo.2_Nonsense_Mutation_p.E1333*|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 1480 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) TGAAGTAGTTCTTTAAAAATA 0.363 NA 17 39 1.67942e-08 3.48342e-08 0.006122 1 0 CENPJ 55835 broad.mit.edu 37 13 25479865 25479865 + Missense_Mutation SNP C C T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr13:25479865C>T uc001upt.3 - 7 2564 c.2311G>A c.(2311-2313)GAA>AAA p.E771K CENPJ_uc010tdf.1_RNA|CENPJ_uc010aae.2_RNA|CENPJ_uc010aaf.2_RNA|CENPJ_uc001upu.2_5'Flank NM_018451 NP_060921 Q9HC77 CENPJ_HUMAN centromere protein J 771 cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization centriole|cytosol|gamma-tubulin small complex|microtubule protein domain specific binding|tubulin binding ovary(2) 2 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139) TTTATGCTTTCCATGATAGAC 0.408 NA 11 114 0 0 0.00245 0 0 MTUS2 23281 broad.mit.edu 37 13 29600969 29600969 + Nonsense_Mutation SNP G G T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr13:29600969G>T uc001usl.3 + 1 2222 c.2164G>T c.(2164-2166)GGA>TGA p.G722* NM_001033602 NP_001028774 Q5JR59 MTUS2_HUMAN hypothetical protein LOC23281 isoform a 712 Mediates interaction with MAPRE1. cytoplasm|microtubule microtubule binding|protein homodimerization activity 0 CTTCAGTTCCGGATTGATGGT 0.483 NA 17 33 1.5739e-10 3.4815e-10 0.004007 1 0 C13orf33 84935 broad.mit.edu 37 13 31495969 31495969 + Missense_Mutation SNP G G T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr13:31495969G>T uc001uth.3 + 4 1114 c.773G>T c.(772-774)AGT>ATT p.S258I uc001utg.1_Intron NM_032849 NP_116238 Q5VYS4 CM033_HUMAN hypothetical protein LOC84935 258 0 Lung SC(185;0.0281) all cancers(112;0.00914)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.0559)|GBM - Glioblastoma multiforme(144;0.244) CGAAAGTTCAGTGTAACTTCC 0.358 NA 12 30 4.36969e-10 9.54504e-10 0.001855 1 0 COG3 83548 broad.mit.edu 37 13 46050481 46050481 + Missense_Mutation SNP A A G TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr13:46050481A>G uc001vak.2 + 2 421 c.320A>G c.(319-321)CAG>CGG p.Q107R COG3_uc010tfu.1_RNA|COG3_uc001vai.2_Missense_Mutation_p.Q107R|COG3_uc001vaj.1_Missense_Mutation_p.Q107R|COG3_uc010tfv.1_5'UTR|COG3_uc010aci.2_5'UTR NM_031431 NP_113619 Q96JB2 COG3_HUMAN component of golgi transport complex 3 107 QQ -> HE (in Ref. 1; AAK66974). ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER cis-Golgi network|Golgi cisterna membrane|Golgi transport complex protein binding|protein transporter activity breast(1)|skin(1) 2 Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000124) ACCGCACAGCAGGTGAATTGC 0.373 Ovarian(150;1048 1859 18083 21577 42700) NA 8 28 0 0 0.00308 0 0 COG3 83548 broad.mit.edu 37 13 46050484 46050484 + Splice_Site SNP T T A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr13:46050484T>A uc001vak.2 + 2 422 c.321_splice c.e2+2 p.Q107_splice COG3_uc010tfu.1_Splice_Site|COG3_uc001vai.2_Splice_Site_p.Q107_splice|COG3_uc001vaj.1_Splice_Site_p.Q107_splice|COG3_uc010tfv.1_Splice_Site|COG3_uc010aci.2_Splice_Site NM_031431 NP_113619 Q96JB2 COG3_HUMAN component of golgi transport complex 3 ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER cis-Golgi network|Golgi cisterna membrane|Golgi transport complex protein binding|protein transporter activity breast(1)|skin(1) 2 Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000124) GCACAGCAGGTGAATTGCAGT 0.373 Ovarian(150;1048 1859 18083 21577 42700) NA 9 27 0 0 0.004482 0 0 PCDH17 27253 broad.mit.edu 37 13 58208112 58208112 + Missense_Mutation SNP G G T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr13:58208112G>T uc001vhq.1 + 1 2324 c.1432G>T c.(1432-1434)GTG>TTG p.V478L PCDH17_uc010aec.1_Missense_Mutation_p.V478L NM_001040429 NP_001035519 O14917 PCD17_HUMAN protocadherin 17 precursor 478 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) AGGGCTCTACGTGCTTCAGGT 0.602 Melanoma(72;952 1291 1619 12849 33676) NA 13 18 0.000151284 0.000296212 0.001855 1 0 OR4K2 390431 broad.mit.edu 37 14 20344916 20344916 + Missense_Mutation SNP C C A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr14:20344916C>A uc001vwh.1 + 1 490 c.490C>A c.(490-492)CTC>ATC p.L164I NM_001005501 NP_001005501 Q8NGD2 OR4K2_HUMAN olfactory receptor, family 4, subfamily K, 164 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(2) 4 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CATATTTGCCCTCACGTTACC 0.483 NA 27 522 4.59853e-10 1.00136e-09 0.005443 1 0 OR11H6 122748 broad.mit.edu 37 14 20692590 20692590 + Missense_Mutation SNP G G T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr14:20692590G>T uc010tlc.1 + 1 722 c.722G>T c.(721-723)AGA>ATA p.R241I NM_001004480 NP_001004480 Q8NGC7 O11H6_HUMAN olfactory receptor, family 11, subfamily H, 241 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 all_cancers(95;0.00108) Epithelial(56;1.75e-06)|all cancers(55;1.22e-05) GBM - Glioblastoma multiforme(265;0.0143) CTGGTCATCAGAGCTGTGCTT 0.473 NA 22 18 5.35356e-11 1.18798e-10 0.00278 1 0 ADCY4 196883 broad.mit.edu 37 14 24787633 24787633 + Missense_Mutation SNP T T G TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr14:24787633T>G uc001wov.2 - 25 3229 c.3223A>C c.(3223-3225)ACC>CCC p.T1075P ADCY4_uc001wow.2_Missense_Mutation_p.T1075P|ADCY4_uc010toh.1_Missense_Mutation_p.T761P|ADCY4_uc001wox.2_Missense_Mutation_p.T1075P|ADCY4_uc001woy.2_Missense_Mutation_p.T1075P NM_139247 NP_640340 Q8NFM4 ADCY4_HUMAN adenylate cyclase 4 1075 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding|protein binding ovary(1)|lung(1)|pancreas(1) 3 GBM - Glioblastoma multiforme(265;0.0192) CAGCCTAGGGTAGCTGAAGGA 0.527 NA 12 20 0 0 0.001368 0 0 ARHGAP5 394 broad.mit.edu 37 14 32624010 32624010 + Silent SNP A A G TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr14:32624010A>G uc001wrl.2 + 7 4604 c.4365A>G c.(4363-4365)GTA>GTG p.V1455V ARHGAP5_uc001wrm.2_Silent_p.V1454V|ARHGAP5_uc001wrn.2_Silent_p.V1455V|ARHGAP5_uc001wro.2_Silent_p.V194V|ARHGAP5_uc001wrp.2_Silent_p.V190V NM_001173 NP_001025226 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 isoform b 1455 cell adhesion|Rho protein signal transduction cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding ovary(4)|central_nervous_system(1) 5 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) GAGAAATTGTAGAAACGACAA 0.428 NSCLC(9;77 350 3443 29227 41353) NA 17 33 0 0 0.004007 0 0 MDGA2 161357 broad.mit.edu 37 14 47342758 47342758 + Nonsense_Mutation SNP A A T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr14:47342758A>T uc001wwj.3 - 14 2619 c.2423T>A c.(2422-2424)TTG>TAG p.L808* MDGA2_uc001wwh.3_Nonsense_Mutation_p.L10*|MDGA2_uc001wwi.3_Nonsense_Mutation_p.L579*|MDGA2_uc010ani.2_Nonsense_Mutation_p.L368* NM_001113498 NP_001106970 Q7Z553 MDGA2_HUMAN MAM domain containing 1 isoform 1 808 MAM. spinal cord motor neuron differentiation anchored to membrane|plasma membrane ovary(4)|large_intestine(1)|pancreas(1) 6 TTCGCCTTCCAATCTGGGTCG 0.363 NA 44 63 0 0 0.002852 0 0 ZFYVE26 23503 broad.mit.edu 37 14 68222664 68222664 + Splice_Site SNP C C A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr14:68222664C>A uc001xka.2 - 36 6925 c.6786_splice c.e36+1 p.K2262_splice ZFYVE26_uc010tsz.1_Splice_Site|ZFYVE26_uc001xkb.2_Splice_Site_p.K108_splice NM_015346 NP_056161 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding ovary(9)|breast(2) 11 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) GCTGCCATTACCTTCATAAAC 0.517 NA 90 129 6.44939e-38 1.66968e-37 0.00361 1 0 ENTPD5 957 broad.mit.edu 37 14 74443113 74443113 + Missense_Mutation SNP G G C TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr14:74443113G>C uc010tuo.1 - 9 867 c.556C>G c.(556-558)CAG>GAG p.Q186E ENTPD5_uc001xpi.2_Missense_Mutation_p.Q186E NM_001249 NP_001240 O75356 ENTP5_HUMAN ectonucleoside triphosphate diphosphohydrolase 5 186 'de novo' posttranslational protein folding|ATP metabolic process|cell growth|cell proliferation|glycolysis|protein N-linked glycosylation|regulation of phosphatidylinositol 3-kinase cascade endoplasmic reticulum lumen guanosine-diphosphatase activity|uridine-diphosphatase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00394) CCATGCAGCTGACCTGTCAAA 0.512 NA 8 52 0 0 0.004482 0 0 KIAA1737 85457 broad.mit.edu 37 14 77580090 77580090 + Missense_Mutation SNP C C G TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr14:77580090C>G uc001xtd.2 + 4 808 c.629C>G c.(628-630)TCC>TGC p.S210C KIAA1737_uc001xtc.1_Missense_Mutation_p.S112C NM_033426 NP_219494 Q9C0C6 K1737_HUMAN KIAA1737 protein 210 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0284) GCTGTCCCATCCAGTCCCTCG 0.562 NA 4 45 0 0 0.000248 0 0 TC2N 123036 broad.mit.edu 37 14 92258854 92258854 + Missense_Mutation SNP G G C TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr14:92258854G>C uc001xzu.3 - 9 1095 c.904C>G c.(904-906)CTA>GTA p.L302V TC2N_uc001xzt.3_Missense_Mutation_p.L302V|TC2N_uc010auc.2_Intron|TC2N_uc001xzv.3_Missense_Mutation_p.L302V NM_001128595 NP_001122067 Q8N9U0 TAC2N_HUMAN tandem C2 domains, nuclear 302 nucleus upper_aerodigestive_tract(1) 1 COAD - Colon adenocarcinoma(157;0.218) ACAGTTTGTAGATTTTGAAGT 0.313 NA 3 50 0 0 0.004672 0 0 SERPINA4 5267 broad.mit.edu 37 14 95030088 95030088 + Missense_Mutation SNP C C T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr14:95030088C>T uc001ydk.2 + 2 335 c.269C>T c.(268-270)TCC>TTC p.S90F SERPINA4_uc010avd.2_Missense_Mutation_p.S127F|SERPINA4_uc001ydl.2_Missense_Mutation_p.S90F NM_006215 NP_006206 P29622 KAIN_HUMAN serine (or cysteine) proteinase inhibitor, clade 90 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity ovary(3)|skin(1) 4 COAD - Colon adenocarcinoma(157;0.211) GCCATGCTTTCCCTGGGGGCC 0.607 NA 27 26 0 0 0.004656 0 0 OR4N4 283694 broad.mit.edu 37 15 22382892 22382892 + Silent SNP C C T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr15:22382892C>T uc001yuc.1 + 7 1401 c.420C>T c.(418-420)GCC>GCT p.A140A LOC727924_uc001yub.1_Intron|OR4N4_uc010tzv.1_Silent_p.A140A NM_001005241 NP_001005241 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, 140 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(4)|skin(1) 5 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) ACCCTAGAGCCTGCTATGCAA 0.542 NA 52 160 0 0 0.00361 0 0 GOLGA8F 100132565 broad.mit.edu 37 15 28632820 28632820 + Missense_Mutation SNP T T C TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr15:28632820T>C uc010uag.1 + 15 1476 c.1352T>C c.(1351-1353)CTG>CCG p.L451P GOLGA8G_uc001zbp.3_Missense_Mutation_p.L245P|GOLGA8G_uc001zbo.2_Intron|GOLGA8G_uc001zbn.2_Missense_Mutation_p.L249P NM_001164328 NP_001157800 golgi autoantigen, golgin subfamily a, 8F 0 CCACAGGACCTGGAGAGCAGG 0.617 NA 4 56 0 0 0.001984 0 0 OTUD7A 161725 broad.mit.edu 37 15 31819488 31819488 + Missense_Mutation SNP C C T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr15:31819488C>T uc001zfq.2 - 5 769 c.676G>A c.(676-678)GAC>AAC p.D226N OTUD7A_uc001zfr.2_Missense_Mutation_p.D226N NM_130901 NP_570971 Q8TE49 OTU7A_HUMAN OTU domain containing 7A 226 OTU.|Catalytic (By similarity).|TRAF-binding (By similarity). cytoplasm|nucleus cysteine-type peptidase activity|DNA binding|zinc ion binding pancreas(1)|skin(1) 2 all_lung(180;1.6e-09) all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208) AACACCAGGTCCCGGTCGTGA 0.557 NA 16 82 0 0 0.004007 0 0 C15orf55 256646 broad.mit.edu 37 15 34649603 34649603 + Missense_Mutation SNP C C A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr15:34649603C>A uc001zif.2 + 7 3465 c.3310C>A c.(3310-3312)CTG>ATG p.L1104M C15orf55_uc010ucc.1_Missense_Mutation_p.L1132M|C15orf55_uc010ucd.1_Missense_Mutation_p.L1122M NM_175741 NP_786883 Q86Y26 NUT_HUMAN nuclear protein in testis 1104 cytoplasm|nucleus BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3) midline_organs(25)|ovary(2)|lung(2)|skin(1) 30 all_lung(180;2.78e-08) all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249) ACCCCTAGCTCTGGGAGTAGT 0.582 NA T BRD3|BRD4 lethal midline carcinoma 19 35 1.67942e-08 3.48342e-08 0.006122 1 0 BUB1B 701 broad.mit.edu 37 15 40504704 40504704 + Missense_Mutation SNP C C G TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr15:40504704C>G uc001zkx.3 + 19 2602 c.2390C>G c.(2389-2391)TCT>TGT p.S797C NM_001211 NP_001202 O60566 BUB1B_HUMAN budding uninhibited by benzimidazoles 1 beta 797 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) TTACAGGTATCTTCTCAACCT 0.224 NA Mis|N|F|S rhabdomyosarcoma Mosaic_Variegated_Aneuploidy_Syndrome 6 32 0 0 0.001984 0 0 RPUSD2 27079 broad.mit.edu 37 15 40861844 40861844 + Missense_Mutation SNP G G A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr15:40861844G>A uc001zmd.1 + 1 308 c.308G>A c.(307-309)CGG>CAG p.R103Q NM_152260 NP_689473 Q8IZ73 RUSD2_HUMAN RNA pseudouridylate synthase domain containing 103 pseudouridine synthesis protein binding|pseudouridine synthase activity|RNA binding skin(1) 1 all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786) AAGAAGCGGCGGGGCGCAACC 0.687 NA 4 7 0 0 0.000248 0 0 MGA 23269 broad.mit.edu 37 15 41988856 41988856 + Nonsense_Mutation SNP C C T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr15:41988856C>T uc001zog.1 + 3 1739 c.1648C>T c.(1648-1650)CAG>TAG p.Q550* MGA_uc010ucy.1_Nonsense_Mutation_p.Q550*|MGA_uc010ucz.1_Nonsense_Mutation_p.Q550* NM_001080541 NP_001074010 Q8IWI9 MGAP_HUMAN MAX-interacting protein isoform 2 550 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 12 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) GAAAGAGCCTCAGTGGAAATA 0.403 NA 11 12 0 0 0.000978 0 0 MGA 23269 broad.mit.edu 37 15 42041410 42041410 + Missense_Mutation SNP C C G TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr15:42041410C>G uc010ucy.1 + 17 5786 c.5605C>G c.(5605-5607)CAA>GAA p.Q1869E MGA_uc010ucz.1_Missense_Mutation_p.Q1660E|MGA_uc010uda.1_Missense_Mutation_p.Q485E|MGA_uc001zoi.2_Missense_Mutation_p.Q83E NM_001164273 NP_001157745 Q8IWI9 MGAP_HUMAN MAX-interacting protein isoform 1 1830 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 12 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) TCCTGTAATTCAAGCTGTTGG 0.488 NA 9 67 0 0 0.004482 0 0 UNC13C 440279 broad.mit.edu 37 15 54307337 54307337 + Missense_Mutation SNP C C A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr15:54307337C>A uc002ack.2 + 1 2237 c.2237C>A c.(2236-2238)TCT>TAT p.S746Y NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 746 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) GGAGCTAATTCTAATGAGCTA 0.423 NA 10 9 7.48243e-07 1.50727e-06 0.000443 1 0 RFX7 64864 broad.mit.edu 37 15 56387666 56387666 + Missense_Mutation SNP G G A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr15:56387666G>A uc010bfn.2 - 9 2260 c.2260C>T c.(2260-2262)CCA>TCA p.P754S RFX7_uc010ugk.1_RNA|RFX7_uc002adn.1_Missense_Mutation_p.P568S NM_022841 NP_073752 Q2KHR2 RFX7_HUMAN regulatory factor X domain containing 2 657 regulation of transcription, DNA-dependent nucleus DNA binding 0 TTTATATCTGGAGATGATGAT 0.393 NA 28 30 0 0 0.001061 0 0 C15orf44 81556 broad.mit.edu 37 15 65871944 65871944 + Silent SNP C C T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr15:65871944C>T uc002apd.2 - 12 1695 c.1359G>A c.(1357-1359)CTG>CTA p.L453L C15orf44_uc010uix.1_Silent_p.L489L|C15orf44_uc010uiz.1_Silent_p.L417L|C15orf44_uc010uja.1_Silent_p.L403L|C15orf44_uc010ujb.1_Silent_p.L374L|C15orf44_uc002ape.3_Silent_p.L453L|C15orf44_uc010uiy.1_Silent_p.L374L NM_030800 NP_110427 Q96SY0 CO044_HUMAN hypothetical protein LOC81556 isoform 2 453 ovary(1) 1 CCACCCCTTTCAGCAGGTCCA 0.537 NA 4 31 0 0 0.000248 0 0 THSD4 79875 broad.mit.edu 37 15 72030138 72030138 + Missense_Mutation SNP G G C TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr15:72030138G>C uc002atb.1 + 10 1777 c.1698G>C c.(1696-1698)AGG>AGC p.R566S THSD4_uc010ukg.1_Missense_Mutation_p.R206S|THSD4_uc002ate.2_Missense_Mutation_p.R206S NM_024817 NP_079093 Q6ZMP0 THSD4_HUMAN thrombospondin, type I, domain containing 4 566 proteinaceous extracellular matrix metalloendopeptidase activity ovary(2) 2 AGAAAGGGAGGAACGAGGAGA 0.567 NA 17 22 0 0 0.004007 0 0 ZNF592 9640 broad.mit.edu 37 15 85326329 85326329 + Missense_Mutation SNP C C A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr15:85326329C>A uc002bld.2 + 4 759 c.423C>A c.(421-423)TTC>TTA p.F141L ZNF592_uc010upb.1_RNA NM_014630 NP_055445 Q92610 ZN592_HUMAN zinc finger protein 592 141 cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|skin(2) 6 BRCA - Breast invasive adenocarcinoma(143;0.0587) TCAACCAGTTCAGTCCAATCT 0.483 NA 16 150 4.7546e-09 1.00104e-08 0.004007 1 0 ZNF592 9640 broad.mit.edu 37 15 85327622 85327622 + Silent SNP C C T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr15:85327622C>T uc002bld.2 + 4 2052 c.1716C>T c.(1714-1716)CTC>CTT p.L572L ZNF592_uc010upb.1_RNA NM_014630 NP_055445 Q92610 ZN592_HUMAN zinc finger protein 592 572 cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|skin(2) 6 BRCA - Breast invasive adenocarcinoma(143;0.0587) CGCCAAATCTCAGCCCGCCTG 0.597 NA 13 118 0 0 0.00245 0 0 NARFL 64428 broad.mit.edu 37 16 783371 783371 + Missense_Mutation SNP C C G TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr16:783371C>G uc002cjr.2 - 7 762 c.750G>C c.(748-750)AAG>AAC p.K250N NARFL_uc002cjp.2_Missense_Mutation_p.K148N|NARFL_uc002cjq.2_Missense_Mutation_p.K148N|NARFL_uc002cjs.2_Missense_Mutation_p.K32N|NARFL_uc010uuq.1_5'Flank NM_022493 NP_071938 Q9H6Q4 NARFL_HUMAN nuclear prelamin A recognition factor-like 250 iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia 4 iron, 4 sulfur cluster binding|metal ion binding 0 Hepatocellular(780;0.0218) AGGCTTCCAGCTTTTTGTCAT 0.547 NA 17 65 0 0 0.006122 0 0 PTX4 390667 broad.mit.edu 37 16 1537824 1537824 + Missense_Mutation SNP C C A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr16:1537824C>A uc010uvf.1 - 2 274 c.274G>T c.(274-276)GTG>TTG p.V92L NM_001013658 NP_001013680 Q96A99 PTX4_HUMAN neuronal pentraxin II-like 97 extracellular region metal ion binding 0 TCCCCCTGCACCGAGGCCTGT 0.662 NA 39 102 8.69298e-16 2.05284e-15 0.001485 1 0 ZNF263 10127 broad.mit.edu 37 16 3339518 3339518 + Missense_Mutation SNP C C G TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr16:3339518C>G uc002cuq.2 + 6 1344 c.1012C>G c.(1012-1014)CAT>GAT p.H338D ZNF263_uc010uww.1_5'UTR|ZNF263_uc002cur.2_5'UTR NM_005741 NP_005732 O14978 ZN263_HUMAN zinc finger protein 263 338 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(3)|ovary(1) 4 GGGAAGACCTCATGACCGGTC 0.632 NA 3 86 0 0 0.004672 0 0 GRIN2A 2903 broad.mit.edu 37 16 10274192 10274192 + Missense_Mutation SNP G G A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr16:10274192G>A uc002czo.3 - 2 625 c.77C>T c.(76-78)GCG>GTG p.A26V GRIN2A_uc010uym.1_Missense_Mutation_p.A26V|GRIN2A_uc002czr.3_Missense_Mutation_p.A26V|GRIN2A_uc010buk.2_Missense_Mutation_p.A26V NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 26 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1) 45 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CTTCTCCGCCGCCGCGCTCGG 0.672 NA 29 27 0 0 0.005443 0 0 EMP2 2013 broad.mit.edu 37 16 10626919 10626919 + Missense_Mutation SNP T T A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr16:10626919T>A uc002czx.2 - 5 541 c.347A>T c.(346-348)TAT>TTT p.Y116F NM_001424 NP_001415 P54851 EMP2_HUMAN epithelial membrane protein 2 116 cell proliferation integral to membrane 0 CCTGTCTGTATAAATGGAGGC 0.512 GBM(158;2021 2691 14714 39478) NA 25 59 0 0 0.001061 0 0 ZNF646 9726 broad.mit.edu 37 16 31087858 31087858 + Missense_Mutation SNP G G C TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr16:31087858G>C uc002eap.2 + 2 502 c.213G>C c.(211-213)GAG>GAC p.E71D ZNF668_uc002eao.2_5'Flank NM_014699 NP_055514 O15015 ZN646_HUMAN zinc finger protein 646 71 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(2) 2 GGACCCACGAGACTGGCCTTT 0.627 NA 3 65 0 0 0.004672 0 0 DNAJA2 10294 broad.mit.edu 37 16 47005275 47005275 + Missense_Mutation SNP C C G TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr16:47005275C>G uc002eeo.2 - 3 490 c.348G>C c.(346-348)ATG>ATC p.M116I DNAJA2_uc002eep.2_Missense_Mutation_p.M33I NM_005880 NP_005871 O60884 DNJA2_HUMAN DnaJ subfamily A member 2 116 positive regulation of cell proliferation|protein folding|response to heat membrane ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding lung(1) 1 all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116) GTGGATGCATCATGTCCTCTC 0.378 NA 7 64 0 0 0.001984 0 0 NOD2 64127 broad.mit.edu 37 16 50745221 50745221 + Missense_Mutation SNP G G A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr16:50745221G>A uc002egm.1 + 4 1504 c.1399G>A c.(1399-1401)GAC>AAC p.D467N NOD2_uc010cbk.1_Missense_Mutation_p.D440N|NOD2_uc002egl.1_Missense_Mutation_p.D245N|NOD2_uc010cbl.1_Missense_Mutation_p.D245N|NOD2_uc010cbm.1_Missense_Mutation_p.D245N|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 467 NACHT. 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) CGGGGTGGCGGACCGCCTCAT 0.592 NA 5 86 0 0 0.000602 0 0 CDH8 1006 broad.mit.edu 37 16 61823353 61823353 + Silent SNP C C T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr16:61823353C>T uc002eog.1 - 8 1563 c.1311G>A c.(1309-1311)AGG>AGA p.R437R CDH8_uc002eoh.2_Silent_p.R206R NM_001796 NP_001787 P55286 CADH8_HUMAN cadherin 8, type 2 preproprotein 437 Extracellular (Potential).|Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|skin(2)|breast(1) 9 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) TGTTGAACTGCCTCTCCAGGT 0.418 NA 23 24 0 0 0.001882 0 0 ACD 65057 broad.mit.edu 37 16 67691688 67691688 + Silent SNP G G A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr16:67691688G>A uc002etq.3 - 11 1870 c.1533C>T c.(1531-1533)CTC>CTT p.L511L ACD_uc002etp.3_Silent_p.L508L|ACD_uc002etr.3_Silent_p.L495L NM_001082486 NP_001075955 Q96AP0 ACD_HUMAN adrenocortical dysplasia homolog isoform 1 511 intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly nuclear telomere cap complex|nucleoplasm DNA binding|DNA polymerase binding pancreas(1) 1 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228) CCCGAGCACAGAGGGACGTGC 0.572 NA 5 50 0 0 0.001984 0 0 TRPV3 162514 broad.mit.edu 37 17 3446879 3446879 + Missense_Mutation SNP G G T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr17:3446879G>T uc002fvt.1 - 5 677 c.355C>A c.(355-357)CTG>ATG p.L119M TRPV3_uc010vrh.1_Missense_Mutation_p.L103M|TRPV3_uc010vri.1_Missense_Mutation_p.L74M|TRPV3_uc010vrj.1_Missense_Mutation_p.L103M|TRPV3_uc010vrk.1_RNA|TRPV3_uc010vrl.1_Missense_Mutation_p.L103M|TRPV3_uc010vrm.1_RNA|TRPV3_uc002fvr.2_Missense_Mutation_p.L119M|TRPV3_uc002fvu.2_Missense_Mutation_p.L119M NM_145068 NP_659505 Q8NET8 TRPV3_HUMAN transient receptor potential cation channel, 119 Cytoplasmic (Potential). integral to membrane calcium channel activity ovary(4) 4 Menthol(DB00825) CGCTTCTTCAGCCGCCTCTTT 0.547 NA 44 67 3.05275e-18 7.46108e-18 0.003214 1 0 GSG2 83903 broad.mit.edu 37 17 3629172 3629172 + Missense_Mutation SNP G G A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr17:3629172G>A uc002fwp.2 + 1 1976 c.1943G>A c.(1942-1944)CGA>CAA p.R648Q ITGAE_uc002fwo.3_Intron|ITGAE_uc002fwn.3_5'Flank NM_031965 NP_114171 Q8TF76 HASP_HUMAN haspin 648 Protein kinase. cell cycle|chromatin modification|intracellular protein kinase cascade nucleus ATP binding|protein serine/threonine kinase activity 0 TTTGAGCACCGAGACTTACAC 0.527 NA 4 50 0 0 0.000248 0 0 USP6 9098 broad.mit.edu 37 17 5072223 5072223 + Silent SNP C C G TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr17:5072223C>G uc002gau.1 + 35 5620 c.3390C>G c.(3388-3390)CTC>CTG p.L1130L USP6_uc002gav.1_Silent_p.L1130L|USP6_uc010ckz.1_Silent_p.L813L NM_004505 NP_004496 P35125 UBP6_HUMAN ubiquitin specific protease 6 1130 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 GGGATGAGCTCTCCAAGCCCA 0.527 NA T COL1A1|CDH11|ZNF9|OMD aneurysmal bone cysts 3 122 0 0 0.004672 0 0 TMEM107 84314 broad.mit.edu 37 17 8079142 8079142 + Silent SNP G G A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr17:8079142G>A uc002gkg.3 - 3 299 c.189C>T c.(187-189)CTC>CTT p.L63L TMEM107_uc002gkh.3_Silent_p.L69L|TMEM107_uc002gki.3_Silent_p.L69L|TMEM107_uc002gkj.3_Intron|TMEM107_uc002gkk.2_Silent_p.L63L NM_183065 NP_898888 Q6UX40 TM107_HUMAN transmembrane protein 107 isoform 2 63 Helical; (Potential). integral to membrane 0 CCACTGCAAAGAGGCCCAGGG 0.597 NA 5 69 0 0 0.001168 0 0 MYH13 8735 broad.mit.edu 37 17 10250001 10250001 + Missense_Mutation SNP T T A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr17:10250001T>A uc002gmk.1 - 13 1349 c.1259A>T c.(1258-1260)CAG>CTG p.Q420L MYH13_uc010vvf.1_Missense_Mutation_p.Q95L NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN myosin, heavy polypeptide 13, skeletal muscle 420 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|skin(2) 6 CATTACCTGCTGGACATTTTG 0.438 NA 16 17 0 0 0.00499 0 0 DNAH9 1770 broad.mit.edu 37 17 11795148 11795148 + Missense_Mutation SNP C C A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr17:11795148C>A uc002gne.2 + 58 11235 c.11167C>A c.(11167-11169)CTC>ATC p.L3723I DNAH9_uc010coo.2_Missense_Mutation_p.L3017I|DNAH9_uc002gnf.2_Missense_Mutation_p.L35I|DNAH9_uc010vvh.1_Missense_Mutation_p.L76I NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 3723 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) TGACGAAAGCCTCAGGGAGCG 0.542 NA 64 83 8.4772e-36 2.18655e-35 0.00361 1 0 SLC5A10 125206 broad.mit.edu 37 17 18862054 18862054 + Missense_Mutation SNP G G A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr17:18862054G>A uc002guu.1 + 2 212 c.171G>A c.(169-171)ATG>ATA p.M57I SLC5A10_uc002gur.1_Missense_Mutation_p.M1I|SLC5A10_uc002gut.1_Missense_Mutation_p.M57I|SLC5A10_uc002guv.1_Missense_Mutation_p.M57I|SLC5A10_uc010vyl.1_Missense_Mutation_p.M57I NM_001042450 NP_001035915 A0PJK1 SC5AA_HUMAN solute carrier family 5 (sodium/glucose 57 Cytoplasmic (Potential). sodium ion transport|transmembrane transport integral to membrane transporter activity ovary(1) 1 GCCGGGACATGACGTGGTGGC 0.517 NA 23 43 0 0 0.001271 0 0 UNC45B 146862 broad.mit.edu 37 17 33475347 33475347 + Missense_Mutation SNP A A G TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr17:33475347A>G uc002hja.2 + 2 162 c.65A>G c.(64-66)TAC>TGC p.Y22C UNC45B_uc002hjb.2_Missense_Mutation_p.Y22C|UNC45B_uc002hjc.2_Missense_Mutation_p.Y22C|UNC45B_uc010cto.2_Missense_Mutation_p.Y22C NM_173167 NP_775259 Q8IWX7 UN45B_HUMAN cardiomyopathy associated 4 isoform 1 22 TPR 1. cell differentiation|muscle organ development cytosol binding ovary(3)|central_nervous_system(2)|breast(1) 6 Ovarian(249;0.17) CTCCAGGACTACAAGGCCGCC 0.597 NA 19 78 0 0 0.000958 0 0 GSDMB 55876 broad.mit.edu 37 17 38068750 38068750 + Missense_Mutation SNP C C T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr17:38068750C>T uc010cwj.2 - 2 241 c.236G>A c.(235-237)GGT>GAT p.G79D GSDMB_uc010cwk.2_RNA|GSDMB_uc010cwl.2_RNA|GSDMB_uc010cwm.2_RNA|GSDMB_uc002htg.2_Missense_Mutation_p.G79D|GSDMB_uc002hth.2_Missense_Mutation_p.G79D|GSDMB_uc010wem.1_Missense_Mutation_p.G79D NM_001042471 NP_001035936 Q8TAX9 GSDMB_HUMAN gasdermin B isoform 1 79 cytoplasm breast(1)|pancreas(1) 2 AGCCTTTTGACCTGGAAAGAG 0.483 NA 24 22 0 0 0.004656 0 0 KRT23 25984 broad.mit.edu 37 17 39092802 39092802 + Silent SNP G G A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr17:39092802G>A uc002hvm.1 - 2 643 c.54C>T c.(52-54)GCC>GCT p.A18A KRT23_uc010wfl.1_Intron|KRT23_uc010cxf.1_Intron|KRT23_uc010cxg.2_Silent_p.A18A|KRT23_uc002hvn.1_Silent_p.A18A NM_015515 NP_056330 Q9C075 K1C23_HUMAN keratin 23 18 Head. intermediate filament structural molecule activity ovary(1) 1 Breast(137;0.000301)|Ovarian(249;0.15) AGCCACCTCCGGCGCCATGGA 0.692 NA 15 47 0 0 0.00245 0 0 KRT13 3860 broad.mit.edu 37 17 39661387 39661387 + Nonsense_Mutation SNP C C T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr17:39661387C>T uc002hwu.1 - 1 479 c.416G>A c.(415-417)TGG>TAG p.W139* KRT13_uc002hwv.1_Nonsense_Mutation_p.W139*|KRT13_uc002hww.2_Nonsense_Mutation_p.W32*|KRT13_uc010wfr.1_Nonsense_Mutation_p.W32*|KRT13_uc010cxo.2_Nonsense_Mutation_p.W139*|KRT13_uc002hwx.1_Nonsense_Mutation_p.W127* NM_153490 NP_705694 P13646 K1C13_HUMAN keratin 13 isoform a 139 Coil 1A.|Rod. epidermis development intermediate filament structural molecule activity ovary(2)|skin(2)|pancreas(1) 5 Breast(137;0.000286) CTTCAGGTGCCAGTCACGGAT 0.607 NA 41 14 0 0 0.001706 0 0 KRT14 3861 broad.mit.edu 37 17 39742866 39742866 + Missense_Mutation SNP C C A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr17:39742866C>A uc002hxf.1 - 1 282 c.221G>T c.(220-222)AGC>ATC p.S74I JUP_uc010wfs.1_Intron|KRT14_uc010cxp.1_Missense_Mutation_p.S74I NM_000526 NP_000517 P02533 K1C14_HUMAN keratin 14 74 Head. epidermis development|hemidesmosome assembly|intermediate filament bundle assembly cytosol|keratin filament|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton ovary(1) 1 Breast(137;0.000307) GCTGCTGCTGCTGAAGCCACC 0.413 NA 10 4 0.000442599 0.000852278 0.000443 1 0 GFAP 2670 broad.mit.edu 37 17 42992602 42992602 + Missense_Mutation SNP C C G TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr17:42992602C>G uc002ihq.2 - 1 313 c.253G>C c.(253-255)GAG>CAG p.E85Q GFAP_uc002ihr.2_Missense_Mutation_p.E85Q|GFAP_uc010wjg.1_RNA NM_002055 NP_002046 P14136 GFAP_HUMAN glial fibrillary acidic protein isoform 1 85 Rod.|Coil 1A. cytoplasm|intermediate filament structural constituent of cytoskeleton ovary(1)|pancreas(1) 2 Prostate(33;0.0959) CGAACCTTCTCGATGTAGCTG 0.602 NA 24 16 0 0 0.00333 0 0 SLC16A6 9120 broad.mit.edu 37 17 66270079 66270079 + Missense_Mutation SNP C C A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr17:66270079C>A uc002jgz.1 - 3 553 c.365G>T c.(364-366)GGC>GTC p.G122V ARSG_uc002jhc.2_Intron|SLC16A6_uc002jha.1_Missense_Mutation_p.G122V NM_004694 NP_004685 O15403 MOT7_HUMAN solute carrier family 16, member 6 122 Helical; (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) AGAGATGATGCCGATGGCGAC 0.493 NA 18 28 3.99206e-14 9.27059e-14 0.000958 1 0 CCDC57 284001 broad.mit.edu 37 17 80159691 80159691 + Missense_Mutation SNP C C T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr17:80159691C>T uc002kdz.1 - 3 485 c.130G>A c.(130-132)GAG>AAG p.E44K CCDC57_uc002kdx.1_Missense_Mutation_p.E44K NM_198082 NP_932348 Q2TAC2 CCD57_HUMAN coiled-coil domain containing 57 44 Potential. ovary(2) 2 Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227) BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253) TGCGCCTCCTCCAGCTGGCTC 0.657 NA 21 40 0 0 0.001882 0 0 ROCK1 6093 broad.mit.edu 37 18 18600168 18600168 + Silent SNP C C A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr18:18600168C>A uc002kte.2 - 12 2246 c.1305G>T c.(1303-1305)CTG>CTT p.L435L NM_005406 NP_005397 Q13464 ROCK1_HUMAN Rho-associated, coiled-coil containing protein 435 Interaction with FHOD1.|Potential. actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction centriole|cytosol|Golgi membrane ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity lung(2)|breast(2)|central_nervous_system(1) 5 Melanoma(1;0.165) GCTGTTCTTCCAGCTTATAGA 0.269 NA 8 13 0.000157383 0.000307293 0.00308 1 0 SNRPD1 6632 broad.mit.edu 37 18 19209061 19209061 + Missense_Mutation SNP C C T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr18:19209061C>T uc002ktj.1 + 4 453 c.322C>T c.(322-324)CGT>TGT p.R108C NM_006938 NP_008869 P62314 SMD1_HUMAN small nuclear ribonucleoprotein D1 polypeptide 108 Arg/Lys-rich (basic). ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly catalytic step 2 spliceosome|cytosol|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex protein binding|RNA binding 0 aggaagaggacgtggccgtgg 0.264 NA 11 57 0 0 0.000673 0 0 WDR7 23335 broad.mit.edu 37 18 54629724 54629724 + Silent SNP A A T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr18:54629724A>T uc002lgk.1 + 26 4339 c.4128A>T c.(4126-4128)TCA>TCT p.S1376S WDR7_uc002lgl.1_Silent_p.S1343S NM_015285 NP_056100 Q9Y4E6 WDR7_HUMAN rabconnectin-3 beta isoform 1 1376 WD 8. ovary(2)|skin(1) 3 Lung(128;0.0238)|Colorectal(16;0.0296) GCCATGGTTCAGTGGCCCTGT 0.418 NA 15 30 0 0 0.006122 0 0 CDH20 28316 broad.mit.edu 37 18 59195350 59195350 + Missense_Mutation SNP G G C TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr18:59195350G>C uc010dps.1 + 6 1180 c.1168G>C c.(1168-1170)GAA>CAA p.E390Q CDH20_uc002lif.2_Missense_Mutation_p.E384Q NM_031891 NP_114097 Q9HBT6 CAD20_HUMAN cadherin 20, type 2 preproprotein 390 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|ovary(1)|pancreas(1) 5 Colorectal(73;0.186) CCCTGTGTTTGAACCTGGCTT 0.493 NA 7 136 0 0 0.001984 0 0 SERPINB3 6317 broad.mit.edu 37 18 61322930 61322930 + Silent SNP G G T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr18:61322930G>T uc002lji.2 - 8 1278 c.1134C>A c.(1132-1134)ACC>ACA p.T378T SERPINB4_uc002ljg.2_Intron|SERPINB3_uc010dqa.2_Silent_p.T326T NM_006919 NP_008850 P29508 SPB3_HUMAN serine (or cysteine) proteinase inhibitor, clade 378 regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity ovary(1)|central_nervous_system(1)|skin(1) 3 GGATGCTGTTGGTCTTATTTT 0.423 NA 35 66 2.47316e-13 5.7054e-13 0.003271 1 0 SERPINB2 5055 broad.mit.edu 37 18 61569653 61569653 + Missense_Mutation SNP G G T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr18:61569653G>T uc010xeu.1 + 8 1027 c.694G>T c.(694-696)GTA>TTA p.V232L SERPINB2_uc002ljo.2_Missense_Mutation_p.V232L|SERPINB2_uc010dqh.2_Missense_Mutation_p.V162L|SERPINB2_uc002ljp.1_Missense_Mutation_p.V37L|SERPINB2_uc002ljq.1_Missense_Mutation_p.V37L NM_001143818 NP_001137290 P05120 PAI2_HUMAN serine (or cysteine) proteinase inhibitor, clade 232 anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis extracellular space|Golgi apparatus|plasma membrane serine-type endopeptidase inhibitor activity lung(1)|skin(1) 2 Esophageal squamous(42;0.131) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013) GCGCACACCTGTACAGATGAT 0.358 NA 15 34 3.35478e-16 8.03078e-16 0.003163 1 0 CDH7 1005 broad.mit.edu 37 18 63547748 63547748 + Missense_Mutation SNP G G T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr18:63547748G>T uc002ljz.2 + 12 2301 c.1976G>T c.(1975-1977)GGA>GTA p.G659V CDH7_uc002lkb.2_Missense_Mutation_p.G659V NM_033646 NP_387450 Q9ULB5 CADH7_HUMAN cadherin 7, type 2 preproprotein 659 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|pancreas(1)|skin(1) 4 Esophageal squamous(42;0.129) GAGGGCGGGGGAGAGGAGGAC 0.478 NA 12 41 4.36969e-10 9.54504e-10 0.001855 1 0 SOCS6 9306 broad.mit.edu 37 18 67992759 67992759 + Silent SNP G G C TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr18:67992759G>C uc002lkr.1 + 2 1171 c.855G>C c.(853-855)GTG>GTC p.V285V SOCS6_uc010dqq.2_Silent_p.V285V NM_004232 NP_004223 O14544 SOCS6_HUMAN suppressor of cytokine signaling 6 285 defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth cytoplasm large_intestine(1)|lung(1) 2 Esophageal squamous(42;0.129)|Colorectal(73;0.152) ATCAGTCCGTGAATGGCTTGT 0.577 Melanoma(84;1024 1361 24382 36583 42651) NA 3 138 0 0 0.004672 0 0 DOT1L 84444 broad.mit.edu 37 19 2216400 2216400 + Nonsense_Mutation SNP G G T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr19:2216400G>T uc002lvb.3 + 20 2080 c.2044G>T c.(2044-2046)GAG>TAG p.E682* DOT1L_uc002lvc.1_5'UTR|uc002lvd.1_5'Flank|DOT1L_uc002lve.1_5'UTR NM_032482 NP_115871 Q8TEK3 DOT1L_HUMAN DOT1-like, histone H3 methyltransferase 682 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) CCTGGGCCGCGAGCTGGAGCC 0.677 NA 19 11 4.30721e-22 1.07526e-21 0.001523 1 0 GNA15 2769 broad.mit.edu 37 19 3163000 3163000 + Missense_Mutation SNP G G A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr19:3163000G>A uc002lxf.2 + 7 1366 c.1108G>A c.(1108-1110)GAG>AAG p.E370K NM_002068 NP_002059 P30679 GNA15_HUMAN guanine nucleotide binding protein (G protein), 370 activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity skin(2) 2 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184) CTACCTGGACGAGATCAACCT 0.662 NA OREG0025150 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 12 0 0 0.004672 0 0 SAFB2 9667 broad.mit.edu 37 19 5604655 5604655 + Missense_Mutation SNP C C G TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr19:5604655C>G uc002mcd.2 - 11 1710 c.1498G>C c.(1498-1500)GTG>CTG p.V500L NM_014649 NP_055464 Q14151 SAFB2_HUMAN scaffold attachment factor B2 500 Lys-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|nucleotide binding|protein binding|RNA binding 0 UCEC - Uterine corpus endometrioid carcinoma (162;0.000228) TCCTTCTTCACTTCGCACTCT 0.408 Ovarian(127;888 1728 23957 44128 52668) NA 4 28 0 0 0.000248 0 0 LONP1 9361 broad.mit.edu 37 19 5700844 5700844 + Missense_Mutation SNP C C G TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr19:5700844C>G uc002mcx.2 - 9 1495 c.1462G>C c.(1462-1464)GAG>CAG p.E488Q LONP1_uc002mcy.2_Missense_Mutation_p.E424Q|LONP1_uc010duh.2_Missense_Mutation_p.E229Q|LONP1_uc010dui.2_Missense_Mutation_p.E472Q|LONP1_uc002mcz.2_Missense_Mutation_p.E292Q NM_004793 NP_004784 P36776 LONM_HUMAN mitochondrial lon peptidase 1 precursor 488 cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia mitochondrial nucleoid ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding 0 TGGTCTTCCTCCAGCACTGCC 0.612 NA 4 31 0 0 0.000602 0 0 MUC16 94025 broad.mit.edu 37 19 9057032 9057032 + Silent SNP G G A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr19:9057032G>A uc002mkp.2 - 3 30618 c.30414C>T c.(30412-30414)TCC>TCT p.S10138S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 10140 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TTTCAGCCATGGAAGAGGGAG 0.458 NA 15 10 0 0 0.003163 0 0 QTRT1 81890 broad.mit.edu 37 19 10822872 10822872 + Missense_Mutation SNP G G T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr19:10822872G>T uc002mpr.2 + 6 707 c.682G>T c.(682-684)GGG>TGG p.G228W DNM2_uc010dxk.2_5'Flank NM_031209 NP_112486 Q9BXR0 TGT_HUMAN queuine tRNA-ribosyltransferase 1 228 queuosine biosynthetic process mitochondrion|nucleus|ribosome metal ion binding|queuine tRNA-ribosyltransferase activity skin(1) 1 Epithelial(33;1.55e-05)|all cancers(31;3.42e-05) CTTCGCCATCGGGGGCCTGAG 0.617 NA 35 14 9.80977e-26 2.46656e-25 0.004289 1 0 C19orf2 8725 broad.mit.edu 37 19 30505953 30505953 + Missense_Mutation SNP G G T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr19:30505953G>T uc002nsr.2 + 11 1615 c.1585G>T c.(1585-1587)GCC>TCC p.A529S C19orf2_uc002nsq.2_Intron|C19orf2_uc002nss.2_Missense_Mutation_p.A489S|C19orf2_uc002nst.2_Missense_Mutation_p.A453S NM_003796 NP_003787 O94763 RMP_HUMAN RPB5-mediating protein isoform a 529 protein folding|regulation of transcription from RNA polymerase II promoter|response to virus DNA-directed RNA polymerase II, core complex|prefoldin complex transcription corepressor activity|unfolded protein binding ovary(1)|kidney(1) 2 Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195) Hepatocellular(1079;0.137)|Renal(1328;0.228) STAD - Stomach adenocarcinoma(5;5.36e-06)|Lung(7;0.0144)|LUAD - Lung adenocarcinoma(5;0.115) STAD - Stomach adenocarcinoma(1328;0.18) GTTTAAAGCTGCCAGATTGCA 0.408 Melanoma(75;661 1306 1472 28422 37948) NA 14 36 4.3838e-07 8.93375e-07 0.001855 1 0 C19orf40 91442 broad.mit.edu 37 19 33465037 33465037 + Missense_Mutation SNP G G C TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr19:33465037G>C uc002nud.3 + 4 433 c.315G>C c.(313-315)CAG>CAC p.Q105H CCDC123_uc002nty.2_5'Flank|CCDC123_uc010edg.2_5'Flank|CCDC123_uc002ntz.1_5'Flank|CCDC123_uc002nua.2_5'Flank|CCDC123_uc002nuc.1_5'Flank NM_152266 NP_689479 Q9BTP7 FAP24_HUMAN Fanconi anemia-associated protein, 24 kDa 105 DNA repair Fanconi anaemia nuclear complex chromatin binding|DNA binding|protein binding 0 Esophageal squamous(110;0.137) CAGCCCTACAGAAGTTTACTG 0.453 NA Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks 3 39 0 0 0.004672 0 0 EIF3K 27335 broad.mit.edu 37 19 39116723 39116723 + Missense_Mutation SNP G G T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr19:39116723G>T uc002oiz.1 + 4 522 c.335G>T c.(334-336)TGC>TTC p.C112F EIF3K_uc010xuh.1_Missense_Mutation_p.C112F|EIF3K_uc010xui.1_Missense_Mutation_p.C25F NM_013234 NP_037366 Q9UBQ5 EIF3K_HUMAN eukaryotic translation initiation factor 3, 112 regulation of translational initiation cytosol|eukaryotic translation initiation factor 3 complex|nucleus protein binding|ribosome binding|translation initiation factor activity ovary(1)|central_nervous_system(1) 2 all_cancers(60;6.42e-06)|Ovarian(47;0.103) Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272) CTGGAGACCTGCCATTTCCAG 0.567 NA 45 52 1.00776e-21 2.50684e-21 0.00361 1 0 AKT2 208 broad.mit.edu 37 19 40761077 40761077 + Missense_Mutation SNP G G A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr19:40761077G>A uc002onf.2 - 4 537 c.275C>T c.(274-276)TCT>TTT p.S92F AKT2_uc010egs.2_Missense_Mutation_p.S92F|AKT2_uc010egt.2_Missense_Mutation_p.S30F|AKT2_uc010xvj.1_Missense_Mutation_p.S30F|AKT2_uc010egu.1_Missense_Mutation_p.S30F|AKT2_uc010xvk.1_Missense_Mutation_p.S92F NM_001626 NP_001617 P31751 AKT2_HUMAN AKT2 kinase 92 PH. insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process cytosol|nucleus ATP binding|protein binding|protein serine/threonine kinase activity lung(2) 2 Lung(22;0.000499) CTCGTCTGGAGAATCCACGTG 0.577 NA A ovarian|pancreatic 11 81 0 0 0.000673 0 0 CEACAM7 1087 broad.mit.edu 37 19 42190823 42190823 + Missense_Mutation SNP T T G TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr19:42190823T>G uc002ori.1 - 2 396 c.394A>C c.(394-396)AAT>CAT p.N132H CEACAM7_uc010ehx.2_Missense_Mutation_p.N132H|CEACAM7_uc010ehy.1_Missense_Mutation_p.N132H NM_006890 NP_008821 Q14002 CEAM7_HUMAN carcinoembryonic antigen-related cell adhesion 132 Ig-like V-type. anchored to membrane|integral to membrane|plasma membrane ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366) ACTTCTTCATTCACAAGATTT 0.453 NA 49 59 0 0 0.00361 0 0 NKG7 4818 broad.mit.edu 37 19 51875207 51875207 + Silent SNP G G T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr19:51875207G>T uc002pwj.2 - 3 597 c.426C>A c.(424-426)CTC>CTA p.L142L CLDND2_uc002pwi.1_5'Flank|NKG7_uc002pwk.2_Silent_p.L107L NM_005601 NP_005592 Q16617 NKG7_HUMAN natural killer cell group 7 sequence 142 Helical; (Potential). integral to plasma membrane central_nervous_system(1) 1 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) TACAGAGCAAGAGGATAGCTG 0.612 NA 5 64 4.096e-09 8.64986e-09 0.001168 1 0 ZNF578 147660 broad.mit.edu 37 19 53013909 53013909 + Missense_Mutation SNP G G C TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr19:53013909G>C uc002pzp.3 + 6 519 c.275G>C c.(274-276)AGA>ACA p.R92T NM_001099694 NP_001093164 Q96N58 ZN578_HUMAN zinc finger protein 578 191 C2H2-type 7. 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) ATGTTGCAAAGACATGAAAGT 0.373 NA 6 83 0 0 0.001168 0 0 LENG9 94059 broad.mit.edu 37 19 54973285 54973285 + Missense_Mutation SNP C C G TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr19:54973285C>G uc010yez.1 - 1 1610 c.1491G>C c.(1489-1491)GAG>GAC p.E497D NM_198988 NP_945339 Q96B70 LENG9_HUMAN leukocyte receptor cluster (LRC) member 9 497 RNA metabolic process intracellular catalytic activity|nucleic acid binding|zinc ion binding 0 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.134) CCAGGCGGATCTCAGCCAGGG 0.607 NA 8 51 0 0 0.004482 0 0 LILRA2 11027 broad.mit.edu 37 19 55086414 55086414 + Missense_Mutation SNP G G C TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr19:55086414G>C uc002qgg.3 + 4 658 c.569G>C c.(568-570)AGG>ACG p.R190T LILRA2_uc010ern.2_Missense_Mutation_p.R190T|LILRA2_uc002qgf.2_Missense_Mutation_p.R190T|LILRA2_uc010yfe.1_Missense_Mutation_p.R190T|LILRA2_uc010yff.1_Missense_Mutation_p.R178T|LILRA2_uc010ero.2_Missense_Mutation_p.R178T|LILRA2_uc010yfg.1_Missense_Mutation_p.R190T NM_001130917 NP_001124389 Q8N149 LIRA2_HUMAN leukocyte immunoglobulin-like receptor, 190 Extracellular (Potential).|Ig-like C2-type 2. defense response integral to membrane antigen binding|receptor activity ovary(1) 1 GBM - Glioblastoma multiforme(193;0.0963) CCGAGTCGCAGGTGGTCGTAC 0.577 NA 54 39 0 0 0.00361 0 0 ZNF512 84450 broad.mit.edu 37 2 27822465 27822465 + Missense_Mutation SNP C C T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr2:27822465C>T uc002rla.2 + 4 380 c.293C>T c.(292-294)TCA>TTA p.S98L ZNF512_uc010ylv.1_Missense_Mutation_p.S19L|ZNF512_uc010ylw.1_Missense_Mutation_p.S97L|ZNF512_uc002rlb.2_Missense_Mutation_p.S19L|ZNF512_uc010ylx.1_Missense_Mutation_p.S19L|ZNF512_uc002rlc.2_Missense_Mutation_p.S19L|ZNF512_uc010yly.1_RNA|ZNF512_uc010ylz.1_Missense_Mutation_p.S19L NM_032434 NP_115810 Q96ME7 ZN512_HUMAN zinc finger protein 512 98 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155) GGTGGAGTATCAGCCAAGGGG 0.403 NA 18 37 0 0 0.002299 0 0 PLB1 151056 broad.mit.edu 37 2 28761185 28761185 + Splice_Site SNP G G C TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr2:28761185G>C uc002rmb.1 + 10 556 c.556_splice c.e10-1 p.N186_splice PLB1_uc010ezj.1_Missense_Mutation_p.Q196H NM_153021 NP_694566 Q6P1J6 PLB1_HUMAN phospholipase B1 precursor lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity ovary(4)|large_intestine(2)|skin(2)|breast(1) 9 Acute lymphoblastic leukemia(172;0.155) TCCTCTCACAGAATGGGCTTG 0.652 NA 8 20 0 0 0.001855 0 0 ALK 238 broad.mit.edu 37 2 29606635 29606635 + Silent SNP A A T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr2:29606635A>T uc002rmy.2 - 5 2152 c.1245T>A c.(1243-1245)TCT>TCA p.S415S NM_004304 NP_004295 Q9UM73 ALK_HUMAN anaplastic lymphoma kinase precursor 415 MAM 1.|Extracellular (Potential). protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2) haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1) 1218 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) AGTCCACTGCAGACAAGCTGC 0.507 NA T|Mis|A NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4 ALCL|NSCLC|Neuroblastoma neuroblastoma Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome 28 23 0 0 0.001512 0 0 SULT6B1 391365 broad.mit.edu 37 2 37395098 37395098 + Missense_Mutation SNP C C T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr2:37395098C>T uc002rpu.2 - 7 799 c.778G>A c.(778-780)GAA>AAA p.E260K SULT6B1_uc010yni.1_RNA NM_001032377 NP_001027549 Q6IMI4 ST6B1_HUMAN sulfotransferase family, cytosolic, 6B, member 298 cytoplasm sulfotransferase activity ovary(1)|breast(1)|central_nervous_system(1) 3 all_hematologic(82;0.248) CAATATGATTCATACTTCAAC 0.308 NA 5 45 0 0 0.001168 0 0 OXER1 165140 broad.mit.edu 37 2 42990430 42990430 + Missense_Mutation SNP A A G TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr2:42990430A>G uc002rss.2 - 1 972 c.890T>C c.(889-891)CTG>CCG p.L297P NM_148962 NP_683765 Q8TDS5 OXER1_HUMAN G-protein coupled receptor TG1019 297 Helical; Name=6; (Potential). regulation of cAMP biosynthetic process integral to membrane|plasma membrane 5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity breast(1) 1 CACCATGGCCAGCACACGCAT 0.622 NA 8 12 0 0 0.00308 0 0 ABCG8 64241 broad.mit.edu 37 2 44102490 44102490 + Missense_Mutation SNP C C A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr2:44102490C>A uc002rtq.2 + 11 1784 c.1694C>A c.(1693-1695)GCC>GAC p.A565D ABCG8_uc010yoa.1_Missense_Mutation_p.A564D NM_022437 NP_071882 Q9H221 ABCG8_HUMAN ATP-binding cassette sub-family G member 8 565 Cytoplasmic (Potential).|ABC transmembrane type-2. cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity skin(3)|ovary(1) 4 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) TTCAGCAATGCCCTCTACAAC 0.612 NA 22 36 4.4004e-07 8.94151e-07 0.00333 1 0 NRXN1 9378 broad.mit.edu 37 2 51255218 51255218 + Missense_Mutation SNP C C T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr2:51255218C>T uc010fbq.2 - 2 1671 c.194G>A c.(193-195)GGC>GAC p.G65D NRXN1_uc002rxe.3_Missense_Mutation_p.G65D|NRXN1_uc002rxd.1_Missense_Mutation_p.G65D NM_001135659 NP_001129131 P58400 NRX1B_HUMAN neurexin 1 isoform alpha2 precursor Error:Variant_position_missing_in_P58400_after_alignment angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) GAGCACGAGGCCGCGGGCGCT 0.652 NA 5 9 0 0 0.000602 0 0 UGP2 7360 broad.mit.edu 37 2 64112839 64112839 + Missense_Mutation SNP A A G TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr2:64112839A>G uc002scm.2 + 6 998 c.692A>G c.(691-693)TAC>TGC p.Y231C UGP2_uc002scl.2_Missense_Mutation_p.Y220C|UGP2_uc010ypx.1_Missense_Mutation_p.Y240C NM_006759 NP_006750 Q16851 UGPA_HUMAN UDP-glucose pyrophosphorylase 2 isoform a 231 glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process cytosol metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity 0 GCCAGTTTCTACAACTCTGGA 0.398 NA 47 55 0 0 0.00361 0 0 FIGLA 344018 broad.mit.edu 37 2 71012708 71012708 + Nonsense_Mutation SNP T T A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr2:71012708T>A uc002she.1 - 3 453 c.448A>T c.(448-450)AGA>TGA p.R150* NM_001004311 NP_001004311 Q6QHK4 FIGLA_HUMAN factor in the germline alpha 150 multicellular organismal development|oocyte development|regulation of transcription, DNA-dependent|transcription, DNA-dependent transcription factor complex DNA binding|transcription factor binding 0 GACAGCTGTCTTGCCGAGGAT 0.453 NA 130 234 0 0 0.00361 0 0 CYP26B1 56603 broad.mit.edu 37 2 72360362 72360363 + Missense_Mutation DNP CA CA AG TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 CA CA - - CA CA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr2:72360362_72360363CA>AG uc002sih.1 - 5 935_936 c.935_936TG>CT c.(934-936)CTG>CCT p.L312P CYP26B1_uc010yra.1_Missense_Mutation_p.L295P|CYP26B1_uc010yrb.1_Missense_Mutation_p.L237P NM_019885 NP_063938 Q9NR63 CP26B_HUMAN cytochrome P450, family 26, subfamily b, 312 cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding skin(2) 2 GGTGCTTCAGCAGCTGCATGAT 0.653 NA 9 16 0 0 0.004672 0 0 SMYD5 10322 broad.mit.edu 37 2 73451084 73451084 + Missense_Mutation SNP A A G TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr2:73451084A>G uc002siw.2 + 10 922 c.893A>G c.(892-894)GAG>GGG p.E298G SMYD5_uc010yre.1_Missense_Mutation_p.E182G|SMYD5_uc002six.1_RNA NM_006062 NP_006053 Q6GMV2 SMYD5_HUMAN SMYD family member 5 298 SET. metal ion binding 0 GCAACTGGAGAGTTTCTTAAC 0.493 NA 65 88 0 0 0.00361 0 0 REG1A 5967 broad.mit.edu 37 2 79349128 79349128 + Missense_Mutation SNP C C A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr2:79349128C>A uc002snz.2 + 4 301 c.198C>A c.(196-198)AAC>AAA p.N66K REG1A_uc010ffx.1_3'UTR|REG1A_uc010ysd.1_Missense_Mutation_p.N66K NM_002909 NP_002900 P05451 REG1A_HUMAN regenerating islet-derived 1 alpha precursor 66 C-type lectin. positive regulation of cell proliferation extracellular region growth factor activity|sugar binding 0 ATTGCCAGAACATGAATTCGG 0.512 NA 38 60 3.76604e-16 8.9845e-16 0.002522 1 0 ABCB11 8647 broad.mit.edu 37 2 169783672 169783672 + Silent SNP G G A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr2:169783672G>A uc002ueo.1 - 26 3738 c.3612C>T c.(3610-3612)CTC>CTT p.L1204L ABCB11_uc010zda.1_Silent_p.L622L|ABCB11_uc010zdb.1_Silent_p.L680L NM_003742 NP_003733 O95342 ABCBB_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), 1204 Cytoplasmic (Potential).|ABC transporter 2. bile acid biosynthetic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism ovary(2)|large_intestine(2)|breast(1) 5 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016) TCACCTCTGGGAGTGACATGA 0.398 NA 56 86 0 0 0.00361 0 0 NRP2 8828 broad.mit.edu 37 2 206608091 206608091 + Missense_Mutation SNP G G C TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr2:206608091G>C uc002vaw.2 + 9 2247 c.1456G>C c.(1456-1458)GAG>CAG p.E486Q NRP2_uc002vat.2_Missense_Mutation_p.E486Q|NRP2_uc002vau.2_Missense_Mutation_p.E486Q|NRP2_uc002vav.2_Missense_Mutation_p.E486Q|NRP2_uc002vax.2_Missense_Mutation_p.E486Q|NRP2_uc002vay.2_Missense_Mutation_p.E486Q|NRP2_uc010fud.2_Missense_Mutation_p.E486Q NM_201266 NP_957718 O60462 NRP2_HUMAN neuropilin 2 isoform 1 precursor 486 Extracellular (Potential).|F5/8 type C 2. angiogenesis|axon guidance|cell adhesion integral to membrane|membrane fraction|plasma membrane heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 GCCCGGTGAGGAGTGGCTTCA 0.617 NA 4 63 0 0 0.001168 0 0 SLC4A3 6508 broad.mit.edu 37 2 220500158 220500158 + Nonsense_Mutation SNP G G T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr2:220500158G>T uc002vmp.3 + 13 2181 c.1912G>T c.(1912-1914)GAG>TAG p.E638* SLC4A3_uc002vmo.3_Nonsense_Mutation_p.E665*|SLC4A3_uc010fwm.2_Nonsense_Mutation_p.E188*|SLC4A3_uc010fwn.1_Nonsense_Mutation_p.E147* NM_005070 NP_005061 P48751 B3A3_HUMAN solute carrier family 4, anion exchanger, member 638 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) GAAGCGGCGAGAGCGTGAACA 0.632 NA 7 13 8.12818e-05 0.000159596 0.001984 1 0 SLC4A3 6508 broad.mit.edu 37 2 220504391 220504391 + Missense_Mutation SNP G G T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr2:220504391G>T uc002vmp.3 + 20 3480 c.3211G>T c.(3211-3213)GAC>TAC p.D1071Y SLC4A3_uc002vmo.3_Missense_Mutation_p.D1098Y|SLC4A3_uc010fwm.2_Missense_Mutation_p.D621Y NM_005070 NP_005061 P48751 B3A3_HUMAN solute carrier family 4, anion exchanger, member 1071 Membrane (anion exchange). bicarbonate transport integral to plasma membrane|membrane fraction inorganic anion exchanger activity ovary(2)|upper_aerodigestive_tract(1)|breast(1)|skin(1) 5 Renal(207;0.0183) Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CGCGCCTGGTGACAAGCCCCA 0.657 NA 17 22 1.33834e-09 2.85213e-09 0.000958 1 0 MFF 56947 broad.mit.edu 37 2 228220473 228220473 + Missense_Mutation SNP G G A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr2:228220473G>A uc002vos.2 + 10 1311 c.893G>A c.(892-894)CGA>CAA p.R298Q MFF_uc002vot.2_Missense_Mutation_p.R247Q|MFF_uc002vou.2_Missense_Mutation_p.R220Q|MFF_uc002vov.2_Missense_Mutation_p.R194Q|MFF_uc002vow.2_Missense_Mutation_p.R199Q|MFF_uc002vox.2_Missense_Mutation_p.R174Q|MFF_uc002voy.2_Missense_Mutation_p.R298Q|MFF_uc002voz.2_Missense_Mutation_p.R174Q|MFF_uc002vpa.2_Missense_Mutation_p.R86Q NM_020194 NP_064579 Q9GZY8 MFF_HUMAN mitochondrial fission factor 298 Potential.|Cytoplasmic (Potential). integral to membrane|mitochondrial outer membrane large_intestine(1) 1 TCACTAAGACGACAGGTATTT 0.328 NA 6 126 0 0 0.00308 0 0 SPHKAP 80309 broad.mit.edu 37 2 228856021 228856021 + Missense_Mutation SNP C C A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr2:228856021C>A uc002vpq.2 - 10 4790 c.4743G>T c.(4741-4743)AAG>AAT p.K1581N SPHKAP_uc002vpp.2_Missense_Mutation_p.K1552N|SPHKAP_uc010zlx.1_Intron NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 1581 cytoplasm protein binding skin(5)|ovary(4)|lung(1) 10 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) CTTTAAGAATCTTCTTTTCTT 0.403 NA 24 46 1.77063e-15 4.15326e-15 0.005443 1 0 DIS3L2 129563 broad.mit.edu 37 2 232952246 232952246 + Missense_Mutation SNP C C T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr2:232952246C>T uc010fxz.2 + 6 692 c.416C>T c.(415-417)TCA>TTA p.S139L DIS3L2_uc002vsm.3_RNA|DIS3L2_uc002vsn.1_Missense_Mutation_p.S139L|DIS3L2_uc002vso.2_RNA NM_152383 NP_689596 Q8IYB7 DI3L2_HUMAN DIS3 mitotic control homolog (S. 139 exonuclease activity|ribonuclease activity|RNA binding ovary(1)|breast(1)|central_nervous_system(1) 3 all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136) Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149) GCGTATGAATCAGATATCCCC 0.418 NA 4 48 0 0 0.000248 0 0 PLCB1 23236 broad.mit.edu 37 20 8705382 8705382 + Missense_Mutation SNP C C T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr20:8705382C>T uc002wnb.2 + 16 1664 c.1661C>T c.(1660-1662)TCA>TTA p.S554L PLCB1_uc010zrb.1_Missense_Mutation_p.S453L|PLCB1_uc002wna.2_Missense_Mutation_p.S554L|PLCB1_uc002wnc.1_Missense_Mutation_p.S453L|PLCB1_uc002wnd.1_Missense_Mutation_p.S131L NM_015192 NP_056007 Q9NQ66 PLCB1_HUMAN phosphoinositide-specific phospholipase C beta 1 554 PI-PLC Y-box. activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1) 12 AAGTTTGAGTCATTTGAAATT 0.373 NA 12 35 0 0 0.000978 0 0 PIGT 51604 broad.mit.edu 37 20 44048215 44048215 + Silent SNP C C T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr20:44048215C>T uc002xoh.1 + 5 739 c.666C>T c.(664-666)ATC>ATT p.I222I PIGT_uc010ghb.1_Silent_p.I212I|PIGT_uc010zwt.1_RNA|PIGT_uc010ghd.1_Silent_p.I129I|PIGT_uc010ghc.1_RNA|PIGT_uc010ghe.1_Silent_p.I185I|PIGT_uc010ghf.1_Silent_p.I175I|PIGT_uc002xoj.1_Silent_p.I222I|PIGT_uc002xok.1_Silent_p.I187I|PIGT_uc010zwu.1_5'UTR|PIGT_uc002xoi.1_RNA|PIGT_uc010zwv.1_5'UTR|PIGT_uc010zww.1_Silent_p.I166I|PIGT_uc010zwx.1_Silent_p.I57I|PIGT_uc010zwy.1_Silent_p.I120I|PIGT_uc010zwz.1_5'UTR|PIGT_uc010zxa.1_Silent_p.I60I|PIGT_uc002xol.1_Silent_p.I78I|PIGT_uc010zxb.1_5'Flank NM_015937 NP_057021 Q969N2 PIGT_HUMAN phosphatidylinositol glycan anchor biosynthesis, 222 Lumenal (Potential). attachment of GPI anchor to protein|C-terminal protein lipidation GPI-anchor transamidase complex protein binding pancreas(1) 1 Myeloproliferative disorder(115;0.0122) CAGTGCATATCCGCCCTGTTT 0.547 NA 6 124 0 0 0.001168 0 0 TNNC2 7125 broad.mit.edu 37 20 44452748 44452748 + Missense_Mutation SNP G G C TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr20:44452748G>C uc002xpr.2 - 5 399 c.333C>G c.(331-333)ATC>ATG p.I111M NM_003279 NP_003270 P02585 TNNC2_HUMAN fast skeletal muscle troponin C 111 EF-hand 3.|3. muscle filament sliding|regulation of muscle contraction|skeletal muscle contraction cytosol|troponin complex calcium ion binding upper_aerodigestive_tract(1) 1 Myeloproliferative disorder(115;0.0122) CCTCCGGGTCGATGTAGCCGT 0.642 NA 5 97 0 0 0.000602 0 0 ZMYND8 23613 broad.mit.edu 37 20 45867661 45867661 + Missense_Mutation SNP G G A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr20:45867661G>A uc002xta.1 - 15 2700 c.2446C>T c.(2446-2448)CGG>TGG p.R816W ZMYND8_uc010ghq.1_Missense_Mutation_p.R493W|ZMYND8_uc010ghr.1_Missense_Mutation_p.R791W|ZMYND8_uc002xst.1_Missense_Mutation_p.R744W|ZMYND8_uc002xsu.1_Intron|ZMYND8_uc002xsv.1_Missense_Mutation_p.R744W|ZMYND8_uc002xsw.1_Missense_Mutation_p.R568W|ZMYND8_uc002xsx.1_Missense_Mutation_p.R568W|ZMYND8_uc002xsy.1_Missense_Mutation_p.R791W|ZMYND8_uc002xsz.1_Missense_Mutation_p.R753W|ZMYND8_uc010zxy.1_Missense_Mutation_p.R843W|ZMYND8_uc002xtb.1_Missense_Mutation_p.R836W|ZMYND8_uc002xss.2_Missense_Mutation_p.R816W|ZMYND8_uc010zxz.1_Intron|ZMYND8_uc002xtc.1_Missense_Mutation_p.R836W|ZMYND8_uc002xtd.1_Missense_Mutation_p.R811W|ZMYND8_uc002xte.1_Missense_Mutation_p.R816W|ZMYND8_uc010zya.1_Missense_Mutation_p.R816W|ZMYND8_uc002xtf.1_Missense_Mutation_p.R836W|ZMYND8_uc002xtg.2_Missense_Mutation_p.R810W|ZMYND8_uc010ghs.1_Missense_Mutation_p.R810W|ZMYND8_uc002xsr.1_5'UTR NM_012408 NP_036540 Q9ULU4 PKCB1_HUMAN zinc finger, MYND-type containing 8 isoform b 816 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) CACACGACCCGCTGCACGGCC 0.498 NA 51 76 0 0 0.00361 0 0 SULF2 55959 broad.mit.edu 37 20 46386098 46386098 + Missense_Mutation SNP G G A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr20:46386098G>A uc002xto.2 - 2 340 c.10C>T c.(10-12)CCG>TCG p.P4S SULF2_uc002xtr.2_Missense_Mutation_p.P4S|SULF2_uc002xtq.2_Missense_Mutation_p.P4S|SULF2_uc010ghv.1_Missense_Mutation_p.P4S NM_018837 NP_061325 Q8IWU5 SULF2_HUMAN sulfatase 2 isoform a precursor 4 bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding ovary(2)|breast(2)|pancreas(1)|skin(1) 6 ACGAGGCTCGGGGGGCCCATC 0.562 NA 4 3 0 0 0.000602 0 0 GMEB2 26205 broad.mit.edu 37 20 62223949 62223949 + Missense_Mutation SNP C C T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr20:62223949C>T uc002yfp.1 - 7 1245 c.766G>A c.(766-768)GAG>AAG p.E256K GMEB2_uc002yfo.1_Missense_Mutation_p.E178K|GMEB2_uc002yfq.1_Missense_Mutation_p.E256K NM_012384 NP_036516 Q9UKD1 GMEB2_HUMAN glucocorticoid modulatory element binding 256 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|metal ion binding 0 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114) TCCACCAGCTCCTGGTGGAAC 0.612 NA 4 46 0 0 0.000248 0 0 HLCS 3141 broad.mit.edu 37 21 38126640 38126640 + Missense_Mutation SNP C C A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr21:38126640C>A uc010gnb.2 - 11 3289 c.2088G>T c.(2086-2088)CAG>CAT p.Q696H HLCS_uc002yvs.2_Missense_Mutation_p.Q696H NM_000411 NP_000402 P50747 BPL1_HUMAN holocarboxylase synthetase 696 cell proliferation|histone biotinylation|response to biotin chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding ovary(2)|breast(1)|kidney(1)|liver(1) 5 Myeloproliferative disorder(46;0.0422) Biotin(DB00121) CCTGGTGAACCTGGAGGAAGC 0.597 NA 5 18 5.9392e-07 1.19986e-06 0.001168 1 0 ERG 2078 broad.mit.edu 37 21 39763602 39763602 + Missense_Mutation SNP C C T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr21:39763602C>T uc010gnw.2 - 10 1166 c.871G>A c.(871-873)GAA>AAA p.E291K ERG_uc002yxa.2_Missense_Mutation_p.E284K|ERG_uc011aek.1_Missense_Mutation_p.E192K|ERG_uc010gnv.2_Missense_Mutation_p.E168K|ERG_uc010gnx.2_Missense_Mutation_p.E267K|ERG_uc011ael.1_Missense_Mutation_p.E291K|ERG_uc002yxb.2_Missense_Mutation_p.E267K NM_001136155 NP_001129627 P11308 ERG_HUMAN ets-related isoform 4 291 cell proliferation|multicellular organismal development|protein phosphorylation cytoplasm|nucleus|ribonucleoprotein complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity TMPRSS2/ERG(2499)|FUS/ERG(163)|EWSR1/ERG(162) prostate(2499)|bone(167)|haematopoietic_and_lymphoid_tissue(153)|soft_tissue(5)|lung(2)|skin(1)|ovary(1) 2828 Prostate(19;3.6e-06) CGCTGGTCTTCAGTTTTGGGC 0.423 Esophageal Squamous(130;336 1700 3010 3083 40589) NA 23 57 0 0 0.004656 0 0 SH3BGR 6450 broad.mit.edu 37 21 40824019 40824019 + Silent SNP C C G TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr21:40824019C>G uc002yya.2 + 1 240 c.186C>G c.(184-186)GTC>GTG p.V62V SH3BGR_uc002yxz.2_Intron NM_007341 NP_031367 P55822 SH3BG_HUMAN SH3-binding domain and glutamic acid-rich 62 protein complex assembly cytosol SH3 domain binding|SH3/SH2 adaptor activity 0 all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133) STAD - Stomach adenocarcinoma(101;0.00151) TTCCAACTGTCGAAATGGTTA 0.502 NA 8 159 0 0 0.00308 0 0 FAM3B 54097 broad.mit.edu 37 21 42719025 42719025 + Silent SNP A A C TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr21:42719025A>C uc002yzb.1 + 6 629 c.483A>C c.(481-483)ACA>ACC p.T161T FAM3B_uc002yza.2_RNA|FAM3B_uc002yzc.1_Silent_p.T113T|FAM3B_uc002yzd.1_Silent_p.T184T NM_058186 NP_478066 P58499 FAM3B_HUMAN family with sequence similarity 3, member B 161 apoptosis|insulin secretion extracellular space cytokine activity 0 Prostate(19;1.57e-07)|all_epithelial(19;0.0404) ACGGAAGCACAAGGTGAGTGG 0.542 NA 23 53 0 0 0.002299 0 0 TRPM2 7226 broad.mit.edu 37 21 45798968 45798968 + Missense_Mutation SNP A A T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr21:45798968A>T uc002zet.1 + 9 1316 c.1103A>T c.(1102-1104)AAC>ATC p.N368I TRPM2_uc002zeu.1_Missense_Mutation_p.N368I|TRPM2_uc002zew.1_Missense_Mutation_p.N368I|TRPM2_uc010gpt.1_Missense_Mutation_p.N368I|TRPM2_uc002zex.1_Missense_Mutation_p.N154I NM_003307 NP_003298 O94759 TRPM2_HUMAN transient receptor potential cation channel, 368 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 CAGGTGGCCAACCTGCCTGTC 0.597 NA 26 41 0 0 0.005443 0 0 KLHL22 84861 broad.mit.edu 37 22 20819347 20819347 + Missense_Mutation SNP C C A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr22:20819347C>A uc002zsl.1 - 4 1019 c.910G>T c.(910-912)GGG>TGG p.G304W KLHL22_uc011ahr.1_Missense_Mutation_p.G161W|KLHL22_uc002zsm.1_Missense_Mutation_p.G304W NM_032775 NP_116164 Q53GT1 KLH22_HUMAN kelch-like 304 Kelch 1. cell division Cul3-RING ubiquitin ligase complex lung(1) 1 Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) TGAATGCCCCCGAAGCCCACA 0.637 NA 19 41 8.00594e-06 1.59435e-05 0.000958 1 0 RANGAP1 5905 broad.mit.edu 37 22 41657569 41657569 + Silent SNP G G A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr22:41657569G>A uc003azs.2 - 5 1966 c.496C>T c.(496-498)CTG>TTG p.L166L RANGAP1_uc003azt.2_Silent_p.L166L|RANGAP1_uc003azu.2_Silent_p.L166L|RANGAP1_uc011aoz.1_Intron NM_002883 NP_002874 P46060 RAGP1_HUMAN Ran GTPase activating protein 1 166 mitotic prometaphase|signal transduction condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole protein binding|Ran GTPase activator activity 0 CATTCGGTCAGAGCTGCAGCC 0.612 NA 14 18 0 0 0.001855 0 0 XRCC6 2547 broad.mit.edu 37 22 42057418 42057418 + Missense_Mutation SNP C C T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr22:42057418C>T uc003bao.1 + 12 1676 c.1606C>T c.(1606-1608)CCT>TCT p.P536S XRCC6_uc003bap.1_Missense_Mutation_p.P495S|XRCC6_uc011apc.1_Missense_Mutation_p.P486S|XRCC6_uc003baq.1_Missense_Mutation_p.P536S|XRCC6_uc003bar.1_Missense_Mutation_p.P536S|XRCC6_uc003bas.1_Missense_Mutation_p.P486S NM_001469 NP_001460 P12956 XRCC6_HUMAN ATP-dependent DNA helicase II, 70 kDa subunit 536 DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex 5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding skin(2)|ovary(1)|lung(1)|kidney(1) 5 AGATTACAATCCTGAAGGGAA 0.403 NA Direct_reversal_of_damage|NHEJ 13 95 0 0 0.00245 0 0 KLHDC7B 113730 broad.mit.edu 37 22 50987960 50987960 + Silent SNP C C A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr22:50987960C>A uc003bmi.2 + 1 1499 c.1365C>A c.(1363-1365)ACC>ACA p.T455T NM_138433 NP_612442 Q96G42 KLD7B_HUMAN kelch domain containing 7B 455 Kelch 4. central_nervous_system(1) 1 all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) TCTACGTCACCGGGGGTCACC 0.677 NA 32 48 7.11191e-15 1.66262e-14 0.002836 1 0 TATDN2 9797 broad.mit.edu 37 3 10291093 10291093 + Missense_Mutation SNP C C T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr3:10291093C>T uc003bvg.2 + 2 790 c.209C>T c.(208-210)TCC>TTC p.S70F TATDN2_uc003bvf.2_Missense_Mutation_p.S70F|TATDN2_uc011atr.1_Missense_Mutation_p.S70F|TATDN2_uc011ats.1_RNA|TATDN2_uc011att.1_RNA NM_014760 NP_055575 Q93075 TATD2_HUMAN TatD DNase domain containing 2 70 nucleus endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding pancreas(2) 2 CGGAGGTTATCCTGGGGCTCA 0.642 NA 9 117 0 0 0.004482 0 0 TATDN2 9797 broad.mit.edu 37 3 10312076 10312076 + Missense_Mutation SNP G G A rs142076830 byFrequency TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr3:10312076G>A uc003bvg.2 + 4 1791 c.1210G>A c.(1210-1212)GAT>AAT p.D404N TATDN2_uc003bvf.2_Missense_Mutation_p.D404N|TATDN2_uc011atr.1_Missense_Mutation_p.D404N|TATDN2_uc011ats.1_RNA|TATDN2_uc011att.1_RNA NM_014760 NP_055575 Q93075 TATD2_HUMAN TatD DNase domain containing 2 404 nucleus endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding pancreas(2) 2 CAGCAGCAACGATGCAGCCCA 0.572 NA 7 119 0 0 0.001984 0 0 RFTN1 23180 broad.mit.edu 37 3 16399494 16399494 + Missense_Mutation SNP C C T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr3:16399494C>T uc003cay.2 - 7 1373 c.1091G>A c.(1090-1092)AGC>AAC p.S364N RFTN1_uc010hes.2_Missense_Mutation_p.S328N NM_015150 NP_055965 Q14699 RFTN1_HUMAN raft-linking protein 364 plasma membrane ovary(3)|central_nervous_system(1) 4 TATGGTTTTGCTATCTTCTGT 0.473 NA 8 109 0 0 0.000673 0 0 CCR4 1233 broad.mit.edu 37 3 32995849 32995849 + Missense_Mutation SNP G G A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr3:32995849G>A uc003cfg.1 + 2 1103 c.935G>A c.(934-936)CGC>CAC p.R312H NM_005508 NP_005499 P51679 CCR4_HUMAN chemokine (C-C motif) receptor 4 312 Cytoplasmic (Potential). chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response integral to plasma membrane lung(1) 1 GAGAAATTTCGCAAGTACATC 0.478 NA 24 49 0 0 0.00333 0 0 AMT 275 broad.mit.edu 37 3 49458927 49458927 + Nonsense_Mutation SNP G G A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr3:49458927G>A uc003cww.2 - 3 466 c.337C>T c.(337-339)CAG>TAG p.Q113* AMT_uc011bcn.1_Nonsense_Mutation_p.Q65*|AMT_uc003cwx.2_Nonsense_Mutation_p.Q113*|AMT_uc011bco.1_Nonsense_Mutation_p.Q113*|AMT_uc003cwy.2_Nonsense_Mutation_p.Q65*|AMT_uc011bcp.1_Nonsense_Mutation_p.Q16*|AMT_uc011bcq.1_Nonsense_Mutation_p.Q57* NM_000481 NP_000472 P48728 GCST_HUMAN aminomethyltransferase isoform 1 precursor 113 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) GGGCCCACCTGGTTTGGTCTT 0.493 NA 32 52 0 0 0.003271 0 0 AMIGO3 386724 broad.mit.edu 37 3 49756557 49756557 + Silent SNP G G A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr3:49756557G>A uc003cxj.2 - 1 682 c.342C>T c.(340-342)CTC>CTT p.L114L RNF123_uc003cxh.2_Intron|RNF123_uc003cxi.2_Intron NM_198722 NP_942015 Q86WK7 AMGO3_HUMAN adhesion molecule with Ig-like domain 3 114 Extracellular (Potential).|LRR 3. heterophilic cell-cell adhesion integral to membrane pancreas(1) 1 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) ATGATAGATCGAGCAGCCTCA 0.637 NA OREG0015572 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 131 0 0 0.001368 0 0 DOCK3 1795 broad.mit.edu 37 3 51265438 51265438 + Silent SNP C C G TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr3:51265438C>G uc011bds.1 + 17 1589 c.1566C>G c.(1564-1566)CTC>CTG p.L522L NM_004947 NP_004938 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 522 DHR-1. cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding 0 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) AAAAGAAACTCTTTGGCTTTG 0.438 NA 17 29 0 0 0.006122 0 0 DNAH1 25981 broad.mit.edu 37 3 52427015 52427015 + Missense_Mutation SNP C C T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr3:52427015C>T uc011bef.1 + 65 10709 c.10448C>T c.(10447-10449)TCG>TTG p.S3483L DNAH1_uc003ddv.2_Missense_Mutation_p.S341L NM_015512 NP_056327 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 3548 ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity large_intestine(3) 3 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) ATCTTCCTCTCGGGCATCGCC 0.572 NA 14 105 0 0 0.00245 0 0 C3orf17 25871 broad.mit.edu 37 3 112724627 112724627 + Missense_Mutation SNP C C A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr3:112724627C>A uc003dzr.2 - 9 1521 c.1460G>T c.(1459-1461)TGG>TTG p.W487L GTPBP8_uc011bhy.1_Intron|C3orf17_uc003dzq.2_Missense_Mutation_p.W112L|C3orf17_uc011bhz.1_Missense_Mutation_p.W112L|C3orf17_uc010hqh.2_Missense_Mutation_p.W112L|C3orf17_uc003dzt.2_Missense_Mutation_p.W390L|C3orf17_uc003dzs.2_Missense_Mutation_p.W351L|C3orf17_uc010hqg.2_Missense_Mutation_p.W312L|C3orf17_uc011bia.1_Missense_Mutation_p.W284L|C3orf17_uc003dzu.2_Missense_Mutation_p.W416L|C3orf17_uc011bib.1_Missense_Mutation_p.W376L|C3orf17_uc011bic.1_Missense_Mutation_p.W320L|C3orf17_uc011bid.1_RNA NM_015412 NP_056227 Q6NW34 CC017_HUMAN hypothetical protein LOC25871 487 integral to membrane 0 TGAGAGTCTCCACTTAGCACT 0.443 NA 22 41 2.89027e-11 6.47531e-11 0.002299 1 0 ARGFX 503582 broad.mit.edu 37 3 121305102 121305102 + Missense_Mutation SNP T T A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr3:121305102T>A uc003eef.2 + 5 698 c.603T>A c.(601-603)AGT>AGA p.S201R NM_001012659 NP_001012677 A6NJG6 ARGFX_HUMAN arginine-fifty homeobox 201 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(2)|ovary(1) 3 GBM - Glioblastoma multiforme(114;0.152) GTTCTACCAGTGACTTCCAAA 0.463 NA 47 86 0 0 0.00361 0 0 ATP2C1 27032 broad.mit.edu 37 3 130683838 130683838 + Missense_Mutation SNP G G C TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr3:130683838G>C uc003enl.2 + 14 1293 c.1071G>C c.(1069-1071)AAG>AAC p.K357N ATP2C1_uc011blg.1_Missense_Mutation_p.K391N|ATP2C1_uc011blh.1_Missense_Mutation_p.K352N|ATP2C1_uc011bli.1_Missense_Mutation_p.K391N|ATP2C1_uc003enk.2_Missense_Mutation_p.K341N|ATP2C1_uc003enm.2_Missense_Mutation_p.K357N|ATP2C1_uc003enn.2_Missense_Mutation_p.K341N|ATP2C1_uc003eno.2_Missense_Mutation_p.K357N|ATP2C1_uc003enp.2_Missense_Mutation_p.K357N|ATP2C1_uc003enq.2_Missense_Mutation_p.K357N|ATP2C1_uc003enr.2_Missense_Mutation_p.K357N|ATP2C1_uc003ens.2_Missense_Mutation_p.K357N|ATP2C1_uc003ent.2_Missense_Mutation_p.K357N|ATP2C1_uc003enu.2_Missense_Mutation_p.K35N NM_014382 NP_055197 P98194 AT2C1_HUMAN calcium-transporting ATPase 2C1 isoform 1a 357 Cytoplasmic (By similarity). actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity skin(1) 1 Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236) CACTGACGAAGAATGAAATGA 0.328 Esophageal Squamous(99;456 1443 27647 34099 42636) NA Hailey-Hailey_disease 15 26 0 0 0.001216 0 0 SLCO2A1 6578 broad.mit.edu 37 3 133666133 133666133 + Missense_Mutation SNP G G C TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr3:133666133G>C uc003eqa.3 - 9 1536 c.1262C>G c.(1261-1263)TCC>TGC p.S421C SLCO2A1_uc003eqb.3_Missense_Mutation_p.S345C|SLCO2A1_uc011blv.1_Missense_Mutation_p.S240C NM_005630 NP_005621 Q92959 SO2A1_HUMAN solute carrier organic anion transporter family, 421 Extracellular (Potential). sodium-independent organic anion transport integral to plasma membrane|membrane fraction prostaglandin transmembrane transporter activity|protein binding central_nervous_system(1) 1 AGTTGGGGTGGAGCATCCCAT 0.488 NA 18 28 0 0 0.00499 0 0 ZIC4 84107 broad.mit.edu 37 3 147113967 147113967 + Missense_Mutation SNP C C A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr3:147113967C>A uc003ewd.1 - 3 633 c.360G>T c.(358-360)ATG>ATT p.M120I ZIC4_uc003ewc.1_Missense_Mutation_p.M50I|ZIC4_uc011bno.1_Missense_Mutation_p.M170I NM_032153 NP_115529 Q8N9L1 ZIC4_HUMAN zinc finger protein of the cerebellum 4 120 nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|central_nervous_system(1) 2 TGGGCTGGCGCATGTAGCGGA 0.657 NA 15 26 1.49906e-05 2.96839e-05 0.00245 1 0 MLF1 4291 broad.mit.edu 37 3 158310301 158310301 + Silent SNP C C T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr3:158310301C>T uc003fcb.2 + 2 263 c.126C>T c.(124-126)CTC>CTT p.L42L MLF1_uc003fbz.2_Silent_p.L17L|MLF1_uc003fca.2_Silent_p.L17L|MLF1_uc003fbx.2_Silent_p.L17L|MLF1_uc003fcc.2_Silent_p.L58L|MLF1_uc003fby.2_5'UTR|MLF1_uc010hvx.2_Silent_p.L17L NM_022443 NP_071888 P58340 MLF1_HUMAN myeloid leukemia factor 1 isoform 1 42 cell cycle arrest|myeloid progenitor cell differentiation|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein domain specific binding 0 Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299) Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256) GAGACTTGCTCAGTATCTCTG 0.373 NA T NPM1 AML 5 56 0 0 0.000602 0 0 DGKG 1608 broad.mit.edu 37 3 185906046 185906046 + Silent SNP G G T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr3:185906046G>T uc003fqa.2 - 22 2577 c.2040C>A c.(2038-2040)ATC>ATA p.I680I DGKG_uc003fqb.2_Silent_p.I641I|DGKG_uc003fqc.2_Silent_p.I655I|DGKG_uc011brx.1_Silent_p.I621I NM_001346 NP_001337 P49619 DGKG_HUMAN diacylglycerol kinase gamma isoform 1 680 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GBM - Glioblastoma multiforme(93;0.0657) Phosphatidylserine(DB00144) TGCTTTCCCGGATCACAGCCC 0.488 NA 44 75 4.10826e-27 1.04046e-26 0.00361 1 0 ZNF732 654254 broad.mit.edu 37 4 265812 265812 + Missense_Mutation SNP G G T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr4:265812G>T uc011buu.1 - 3 845 c.831C>A c.(829-831)TTC>TTA p.F277L ZNF732_uc010ibb.1_Intron NM_001137608 NP_001131080 B4DXR9 ZN732_HUMAN zinc finger protein 732 278 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CTTCACATGTGAAGGGTTTCT 0.378 NA 4 12 2.56e-06 5.12734e-06 0.000248 1 0 PSAPL1 768239 broad.mit.edu 37 4 7436310 7436310 + Silent SNP G G T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr4:7436310G>T uc011bwj.1 - 1 391 c.297C>A c.(295-297)CCC>CCA p.P99P SORCS2_uc003gkb.3_Intron|SORCS2_uc011bwi.1_Intron NM_001085382 NP_001078851 Q6NUJ1 SAPL1_HUMAN prosaposin-like protein 1 99 Saposin B-type 1. sphingolipid metabolic process extracellular region|lysosome 0 ACTCCTGGCTGGGGAGCCACT 0.632 NA 5 19 0.000602214 0.00115328 0.000602 1 0 ZNF518B 85460 broad.mit.edu 37 4 10445616 10445616 + Missense_Mutation SNP C C A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr4:10445616C>A uc003gmn.2 - 3 2824 c.2337G>T c.(2335-2337)AGG>AGT p.R779S NM_053042 NP_444270 Q9C0D4 Z518B_HUMAN zinc finger protein 518B 779 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|upper_aerodigestive_tract(1) 4 AATTAAGAACCCTCAACACAG 0.468 NA 28 29 1.12875e-08 2.36936e-08 0.001061 1 0 GABRA2 2555 broad.mit.edu 37 4 46388188 46388188 + Silent SNP G G T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr4:46388188G>T uc003gxc.3 - 2 763 c.90C>A c.(88-90)ATC>ATA p.I30I GABRA2_uc010igc.2_Silent_p.I30I|GABRA2_uc011bzc.1_5'UTR|GABRA2_uc003gxe.2_Silent_p.I30I|GABRA2_uc010igd.1_Silent_p.I30I NM_001114175 NP_001107647 P47869 GBRA2_HUMAN gamma-aminobutyric acid A receptor, alpha 2 30 Extracellular (Probable). gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|skin(2) 4 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CATCTTCTTGGATGTTAGCCA 0.358 NA 10 10 0.000978159 0.00185294 0.000978 1 0 LRRC66 339977 broad.mit.edu 37 4 52860682 52860682 + Missense_Mutation SNP C C T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr4:52860682C>T uc003gzi.2 - 4 2519 c.2506G>A c.(2506-2508)GAA>AAA p.E836K NM_001024611 NP_001019782 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 836 integral to membrane ovary(1)|central_nervous_system(1)|skin(1) 3 CAATGCCATTCTGCTGCCTTG 0.473 NA 23 37 0 0 0.00278 0 0 ADAMTS3 9508 broad.mit.edu 37 4 73169681 73169681 + Missense_Mutation SNP C C G TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr4:73169681C>G uc003hgk.1 - 17 2414 c.2377G>C c.(2377-2379)GAA>CAA p.E793Q ADAMTS3_uc003hgl.2_Missense_Mutation_p.E134Q NM_014243 NP_055058 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 793 Spacer. collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding ovary(1)|lung(1) 2 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TGAAGACTTTCAATGTCATCT 0.398 NSCLC(168;1941 2048 2918 13048 43078) NA 58 86 0 0 0.00361 0 0 MEPE 56955 broad.mit.edu 37 4 88766663 88766663 + Missense_Mutation SNP C C A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr4:88766663C>A uc003hqy.2 + 4 682 c.643C>A c.(643-645)CGT>AGT p.R215S MEPE_uc010ikn.2_Missense_Mutation_p.R102S NM_020203 NP_064588 Q9NQ76 MEPE_HUMAN matrix, extracellular phosphoglycoprotein with 215 skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding ovary(1)|lung(1)|skin(1) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000432) AAGCACCCATCGTATTCAACA 0.393 NA 18 43 5.3912e-06 1.0767e-05 0.006122 1 0 DNAJB14 79982 broad.mit.edu 37 4 100822301 100822301 + Missense_Mutation SNP T T A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr4:100822301T>A uc003hvl.2 - 8 1175 c.1024A>T c.(1024-1026)ATG>TTG p.M342L DNAJB14_uc003hvk.2_Missense_Mutation_p.M257L|DNAJB14_uc010ili.2_Missense_Mutation_p.M275L NM_001031723 NP_001026893 Q8TBM8 DJB14_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 14 342 protein folding integral to membrane heat shock protein binding|unfolded protein binding 0 OV - Ovarian serous cystadenocarcinoma(123;4.59e-09) GCATACTGCATATCTGTTTCT 0.383 NA 17 31 0 0 0.00499 0 0 DKK2 27123 broad.mit.edu 37 4 107956578 107956578 + Missense_Mutation SNP C C A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr4:107956578C>A uc003hyi.2 - 1 876 c.171G>T c.(169-171)ATG>ATT p.M57I DKK2_uc010ilw.1_Intron|DKK2_uc003hyj.1_Missense_Mutation_p.M57I NM_014421 NP_055236 Q9UBU2 DKK2_HUMAN dickkopf homolog 2 precursor 57 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) GTCCTTGGTACATGCCCGCAG 0.587 NA 21 46 9.95505e-16 2.34296e-15 0.002299 1 0 FAT4 79633 broad.mit.edu 37 4 126238974 126238974 + Missense_Mutation SNP G G A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr4:126238974G>A uc003ifj.3 + 1 1408 c.1408G>A c.(1408-1410)GAC>AAC p.D470N NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 470 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 TGACATCAATGACCATCCTCC 0.552 NA OREG0016317 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 32 0 0 0.000248 0 0 FAT4 79633 broad.mit.edu 37 4 126370200 126370200 + Missense_Mutation SNP G G C TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr4:126370200G>C uc003ifj.3 + 9 8029 c.8029G>C c.(8029-8031)GAA>CAA p.E2677Q FAT4_uc011cgp.1_Missense_Mutation_p.E975Q|FAT4_uc003ifi.1_Missense_Mutation_p.E155Q NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 2677 Cadherin 26.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 ATTTATATCTGAAATATTGGA 0.323 NA 5 97 0 0 0.001168 0 0 CLGN 1047 broad.mit.edu 37 4 141334183 141334183 + Missense_Mutation SNP A A G TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr4:141334183A>G uc011chi.1 - 3 268 c.50T>C c.(49-51)ATT>ACT p.I17T CLGN_uc003iii.2_Missense_Mutation_p.I17T NM_001130675 NP_001124147 O14967 CLGN_HUMAN calmegin precursor 17 protein folding endoplasmic reticulum membrane|integral to membrane calcium ion binding|unfolded protein binding ovary(2)|skin(1) 3 all_hematologic(180;0.162) TTCTGCATTAATTGAGATGAA 0.313 NA 24 28 0 0 0.004656 0 0 LRBA 987 broad.mit.edu 37 4 151509335 151509335 + Silent SNP A A C TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr4:151509335A>C uc010ipj.2 - 41 6702 c.6228T>G c.(6226-6228)GGT>GGG p.G2076G LRBA_uc003ilt.3_Silent_p.G724G|LRBA_uc003ilu.3_Silent_p.G2065G NM_006726 NP_006717 P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and 2076 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding ovary(3)|breast(3)|skin(1) 7 all_hematologic(180;0.151) GGCTAACAGGACCTGCCAAAA 0.433 NA 7 21 0 0 0.003954 0 0 GRIA2 2891 broad.mit.edu 37 4 158282204 158282204 + Silent SNP C C G TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr4:158282204C>G uc003ipm.3 + 14 2793 c.2334C>G c.(2332-2334)GGC>GGG p.G778G GRIA2_uc011cit.1_Intron|GRIA2_uc003ipl.3_Intron|GRIA2_uc003ipk.3_Intron|GRIA2_uc010iqh.1_RNA|GRIA2_uc011ciu.1_Silent_p.G88G|GRIA2_uc011civ.1_RNA|GRIA2_uc011ciw.1_RNA|GRIA2_uc011cix.1_Intron|GRIA2_uc011ciy.1_Intron|GRIA2_uc011ciz.1_RNA NM_001083619 NP_001077088 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 isoform 2 778 Extracellular (Potential). synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity central_nervous_system(3)|ovary(1) 4 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) ATGAACAAGGCCTGTTGGACA 0.433 NA 12 22 0 0 0.004007 0 0 SDHA 6389 broad.mit.edu 37 5 251218 251218 + Nonsense_Mutation SNP G G T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr5:251218G>T uc003jao.3 + 12 1778 c.1663G>T c.(1663-1665)GGA>TGA p.G555* SDHA_uc011clv.1_Nonsense_Mutation_p.G555*|SDHA_uc011clw.1_Nonsense_Mutation_p.G507*|SDHA_uc003jap.3_Intron|SDHA_uc003jaq.3_Nonsense_Mutation_p.G330*|SDHA_uc003jar.3_Nonsense_Mutation_p.G149* NM_004168 NP_004159 P31040 DHSA_HUMAN succinate dehydrogenase complex, subunit A, 555 G -> E (in MT-C2D and CMD1GG). nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle mitochondrial respiratory chain complex II electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity 0 Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113) Succinic acid(DB00139) GTTCGACCGGGGTGAGCAGAC 0.567 NA Familial_Paragangliomas 20 37 1.22574e-08 2.55758e-08 0.002299 1 0 CDH10 1008 broad.mit.edu 37 5 24488006 24488006 + Silent SNP C C A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr5:24488006C>A uc003jgr.1 - 12 2465 c.2133G>T c.(2131-2133)CGG>CGT p.R711R CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 711 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) TAATGAAATCCCGGACGTCCG 0.468 NA HNSCC(23;0.051) 26 33 4.72057e-08 9.70494e-08 0.003954 1 0 ADAMTS12 81792 broad.mit.edu 37 5 33561210 33561210 + Silent SNP C C A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr5:33561210C>A uc003jia.1 - 20 4210 c.4047G>T c.(4045-4047)GCG>GCT p.A1349A ADAMTS12_uc010iuq.1_Silent_p.A1264A NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 1349 TSP type-1 5. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 TCTGGATGGCCGCACAGTCAG 0.572 NA HNSCC(64;0.19) 31 46 5.45727e-16 1.29749e-15 0.001512 1 0 NUP155 9631 broad.mit.edu 37 5 37303423 37303423 + Missense_Mutation SNP C C T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr5:37303423C>T uc003jku.1 - 28 3374 c.3256G>A c.(3256-3258)GAG>AAG p.E1086K NUP155_uc003jkt.1_Missense_Mutation_p.E1027K|NUP155_uc010iuz.1_Missense_Mutation_p.E1022K NM_153485 NP_705618 O75694 NU155_HUMAN nucleoporin 155kDa isoform 1 1086 carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore protein binding|structural constituent of nuclear pore|transporter activity ovary(1) 1 all_lung(31;0.000137) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CTGTTCTTCTCGTAATACCGC 0.403 NA 6 36 0 0 0.001984 0 0 GCNT4 51301 broad.mit.edu 37 5 74324704 74324704 + Missense_Mutation SNP G G C TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr5:74324704G>C uc003kdn.2 - 1 2021 c.1159C>G c.(1159-1161)CTT>GTT p.L387V NM_016591 NP_057675 Q9P109 GCNT4_HUMAN core 2 beta-1,6-N-acetylglucosaminyltransferase 387 Lumenal (Potential). protein O-linked glycosylation Golgi membrane|integral to membrane beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity ovary(2)|skin(1) 3 all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;8.44e-57) ACGCTTCGAAGGTGAGATCCA 0.423 NA 33 36 0 0 0.003755 0 0 IQGAP2 10788 broad.mit.edu 37 5 75997028 75997028 + Missense_Mutation SNP C C G TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr5:75997028C>G uc003kek.2 + 34 4717 c.4495C>G c.(4495-4497)CAA>GAA p.Q1499E IQGAP2_uc011csv.1_Missense_Mutation_p.Q995E|IQGAP2_uc003kel.2_Missense_Mutation_p.Q995E NM_006633 NP_006624 Q13576 IQGA2_HUMAN IQ motif containing GTPase activating protein 2 1499 small GTPase mediated signal transduction actin cytoskeleton actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity ovary(6)|central_nervous_system(1) 7 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) AGATGATCTTCAAACAAACCA 0.468 NA 3 63 0 0 0.004672 0 0 CDC23 8697 broad.mit.edu 37 5 137548748 137548748 + Missense_Mutation SNP C C A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr5:137548748C>A uc003lcl.2 - 2 197 c.166G>T c.(166-168)GCG>TCG p.A56S CDC23_uc003lcm.1_Missense_Mutation_p.A56S NM_004661 NP_004652 Q9UJX2 CDC23_HUMAN cell division cycle protein 23 56 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis anaphase-promoting complex|cytosol|nucleoplasm binding|ubiquitin-protein ligase activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) GCCAACTCCGCCGACCTGGAA 0.572 NA 50 68 4.02871e-13 9.26337e-13 0.00361 1 0 PCDHA2 56146 broad.mit.edu 37 5 140176113 140176113 + Missense_Mutation SNP C C T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr5:140176113C>T uc003lhd.2 + 1 1670 c.1564C>T c.(1564-1566)CCG>TCG p.P522S PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.P522S|PCDHA2_uc011czy.1_Missense_Mutation_p.P522S NM_018905 NP_061728 Q9Y5H9 PCDA2_HUMAN protocadherin alpha 2 isoform 1 precursor 522 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCGCTGCAGCCGCTGGACCA 0.687 NA 45 73 0 0 0.00361 0 0 PCDHA7 56141 broad.mit.edu 37 5 140215665 140215665 + Missense_Mutation SNP T T A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr5:140215665T>A uc003lhq.2 + 1 1697 c.1697T>A c.(1696-1698)CTG>CAG p.L566Q PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.L566Q NM_018910 NP_061733 Q9UN72 PCDA7_HUMAN protocadherin alpha 7 isoform 1 precursor 566 Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCGGCACTGCTGGCGCCTCGG 0.687 NSCLC(160;258 2013 5070 22440 28951) NA 44 73 0 0 0.002852 0 0 PCDHB2 56133 broad.mit.edu 37 5 140475158 140475158 + Missense_Mutation SNP C C A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr5:140475158C>A uc003lil.2 + 1 922 c.784C>A c.(784-786)CAG>AAG p.Q262K PCDHB2_uc003lim.1_5'UTR NM_018936 NP_061759 Q9Y5E7 PCDB2_HUMAN protocadherin beta 2 precursor 262 Extracellular (Potential).|Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding ovary(3)|upper_aerodigestive_tract(2)|pancreas(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGTTGGATCCCAGGTTGCCAT 0.483 NA 18 31 5.01169e-05 9.8681e-05 0.00499 1 0 PCDHB4 56131 broad.mit.edu 37 5 140503412 140503412 + Missense_Mutation SNP C C A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr5:140503412C>A uc003lip.1 + 1 1832 c.1832C>A c.(1831-1833)CCT>CAT p.P611H NM_018938 NP_061761 Q9Y5E5 PCDB4_HUMAN protocadherin beta 4 precursor 611 Cadherin 6.|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) GCCACGGAGCCTGGGCTGTTC 0.697 NA 51 68 3.94638e-17 9.54504e-17 0.00361 1 0 PCDHB12 56124 broad.mit.edu 37 5 140589218 140589218 + Missense_Mutation SNP T T A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr5:140589218T>A uc003liz.2 + 1 928 c.739T>A c.(739-741)TAT>AAT p.Y247N PCDHB12_uc011dak.1_Intron NM_018932 NP_061755 Q9Y5F1 PCDBC_HUMAN protocadherin beta 12 precursor 247 Extracellular (Potential).|Cadherin 3. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCAGGCTTTTTATGAGGTGAA 0.502 NA 9 134 0 0 0.000978 0 0 SH3RF2 153769 broad.mit.edu 37 5 145439754 145439754 + Silent SNP G G A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr5:145439754G>A uc003lnt.2 + 9 2119 c.1881G>A c.(1879-1881)GTG>GTA p.V627V SH3RF2_uc011dbl.1_Silent_p.V627V|SH3RF2_uc011dbm.1_Silent_p.V112V|SH3RF2_uc003lnu.2_Silent_p.V118V|SH3RF2_uc011dbn.1_Silent_p.V118V|SH3RF2_uc011dbo.1_Silent_p.V84V NM_152550 NP_689763 Q8TEC5 SH3R2_HUMAN SH3 domain containing ring finger 2 627 ligase activity|protein phosphatase 1 binding|zinc ion binding ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCATCCTGGTGAAACCAGAAA 0.517 NA 11 64 0 0 0.001368 0 0 JAKMIP2 9832 broad.mit.edu 37 5 147051274 147051274 + Silent SNP G G A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr5:147051274G>A uc003loq.1 - 2 478 c.96C>T c.(94-96)GAC>GAT p.D32D JAKMIP2_uc011dbx.1_Intron|JAKMIP2_uc003lor.1_Silent_p.D32D|JAKMIP2_uc010jgo.1_Silent_p.D32D NM_014790 NP_055605 Q96AA8 JKIP2_HUMAN janus kinase and microtubule interacting protein 32 Potential. Golgi apparatus large_intestine(1)|ovary(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTATCTGAATGTCTGTGAGCT 0.532 NA 14 11 0 0 0.00245 0 0 GABRA1 2554 broad.mit.edu 37 5 161309626 161309626 + Missense_Mutation SNP G G T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr5:161309626G>T uc010jiw.2 + 8 1090 c.622G>T c.(622-624)GTA>TTA p.V208L GABRA1_uc010jix.2_Missense_Mutation_p.V208L|GABRA1_uc010jiy.2_Missense_Mutation_p.V208L|GABRA1_uc003lyx.3_Missense_Mutation_p.V208L|GABRA1_uc010jiz.2_Missense_Mutation_p.V208L|GABRA1_uc010jja.2_Missense_Mutation_p.V208L|GABRA1_uc010jjb.2_Missense_Mutation_p.V208L NM_000806 NP_000797 P14867 GBRA1_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 208 Extracellular (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 ovary(2)|pancreas(1) 3 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.228) Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425) CTCAGTGGTTGTAGCAGAAGA 0.398 NA 7 20 0.00307968 0.00574052 0.00308 1 0 HRH2 3274 broad.mit.edu 37 5 175111128 175111128 + Missense_Mutation SNP G G T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr5:175111128G>T uc003mdd.2 + 1 2665 c.892G>T c.(892-894)GGG>TGG p.G298W HRH2_uc003mdc.3_Missense_Mutation_p.G298W NM_022304 NP_071640 P25021 HRH2_HUMAN histamine receptor H2 isoform 2 298 Cytoplasmic (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|immune response integral to plasma membrane histamine receptor activity ovary(1) 1 all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711) Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149) Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863) CTTCCGCACCGGGTACCAACA 0.567 NA 25 21 1.33986e-20 3.32115e-20 0.004656 1 0 RIPK1 8737 broad.mit.edu 37 6 3105914 3105914 + Missense_Mutation SNP A A G TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr6:3105914A>G uc010jni.2 + 9 1437 c.1205A>G c.(1204-1206)AAT>AGT p.N402S RIPK1_uc003muv.3_Missense_Mutation_p.N239S|RIPK1_uc003muw.3_Missense_Mutation_p.N337S|RIPK1_uc011dhs.1_Missense_Mutation_p.N356S|RIPK1_uc003mux.2_Missense_Mutation_p.N402S NM_003804 NP_003795 Q13546 RIPK1_HUMAN receptor (TNFRSF)-interacting serine-threonine 402 Interaction with SQSTM1. activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity large_intestine(3)|lung(1)|skin(1) 5 Ovarian(93;0.0386) all_hematologic(90;0.0895) CCCAGACAGAATGTGGCTTAC 0.502 NA 20 39 0 0 0.001523 0 0 OR2W1 26692 broad.mit.edu 37 6 29012475 29012475 + Missense_Mutation SNP A A T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr6:29012475A>T uc003nlw.2 - 1 478 c.478T>A c.(478-480)TGT>AGT p.C160S NM_030903 NP_112165 Q9Y3N9 OR2W1_HUMAN olfactory receptor, family 2, subfamily W, 160 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 GTGAGTGTACATAATACTACA 0.393 NA 20 31 0 0 0.000958 0 0 OR10C1 442194 broad.mit.edu 37 6 29408052 29408052 + Missense_Mutation SNP G G T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr6:29408052G>T uc011dlp.1 + 1 260 c.260G>T c.(259-261)GGC>GTC p.G87V OR11A1_uc010jrh.1_Intron NM_013941 NP_039229 Q96KK4 O10C1_HUMAN olfactory receptor, family 10, subfamily C, 87 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CTCCTTACTGGCCGGCGCCAC 0.587 NA 32 72 1.22384e-17 2.9807e-17 0.002836 1 0 C6orf136 221545 broad.mit.edu 37 6 30619070 30619070 + Silent SNP G G A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr6:30619070G>A uc003nqw.3 + 4 784 c.591G>A c.(589-591)CTG>CTA p.L197L C6orf136_uc003nqx.3_Silent_p.L378L|C6orf136_uc011dmn.1_Silent_p.L63L NM_001109938 NP_001103408 Q5SQH8 CF136_HUMAN hypothetical protein LOC221545 isoform 1 197 0 TTCTTTCACTGACCCTCTGCC 0.507 NA 32 327 0 0 0.003755 0 0 LRFN2 57497 broad.mit.edu 37 6 40359880 40359880 + Missense_Mutation SNP G G T rs144850104 byFrequency TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr6:40359880G>T uc003oph.1 - 3 2637 c.2172C>A c.(2170-2172)TTC>TTA p.F724L NM_020737 NP_065788 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III 724 Cytoplasmic (Potential). cell junction|integral to membrane|postsynaptic membrane ovary(2)|skin(1) 3 Ovarian(28;0.0418)|Colorectal(47;0.196) CCCCCATGTCGAAGGAGTGGC 0.692 NA 8 10 0.000274275 0.000529609 0.004482 1 0 LRFN2 57497 broad.mit.edu 37 6 40360011 40360011 + Missense_Mutation SNP C C T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr6:40360011C>T uc003oph.1 - 3 2506 c.2041G>A c.(2041-2043)GGG>AGG p.G681R NM_020737 NP_065788 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III 681 Cytoplasmic (Potential). cell junction|integral to membrane|postsynaptic membrane ovary(2)|skin(1) 3 Ovarian(28;0.0418)|Colorectal(47;0.196) GCCCCTCTCCCGGCTGGAGTC 0.716 NA 7 11 0 0 0.00308 0 0 TREM1 54210 broad.mit.edu 37 6 41243937 41243937 + Missense_Mutation SNP C C A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr6:41243937C>A uc003oqf.1 - 4 695 c.631G>T c.(631-633)GCT>TCT p.A211S TREM1_uc003oqg.1_Missense_Mutation_p.W146C NM_018643 NP_061113 Q9NP99 TREM1_HUMAN triggering receptor expressed on myeloid cells 1 211 Helical; (Potential). blood coagulation|humoral immune response|intracellular signal transduction|leukocyte migration extracellular region|integral to membrane|intracellular|plasma membrane receptor activity breast(1) 1 Ovarian(28;0.0327)|Colorectal(47;0.196) Glutathione(DB00143) AATCCACCAGCCAGGAGAATG 0.542 NA 16 25 8.60227e-14 1.99106e-13 0.004007 1 0 CUL9 23113 broad.mit.edu 37 6 43155663 43155663 + Silent SNP C C G TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr6:43155663C>G uc003ouk.2 + 7 1869 c.1794C>G c.(1792-1794)TCC>TCG p.S598S CUL9_uc003ouj.1_Silent_p.S488S|CUL9_uc003oul.2_Silent_p.S598S|CUL9_uc010jyk.2_5'UTR|CUL9_uc003oum.1_Silent_p.S56S NM_015089 NP_055904 Q8IWT3 CUL9_HUMAN p53-associated parkin-like cytoplasmic protein 598 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 AAGAGGAGTCCAAGTCGGAGG 0.547 NA 14 22 0 0 0.001855 0 0 RUNX2 860 broad.mit.edu 37 6 45390466 45390466 + Silent SNP A A G TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr6:45390466A>G uc011dvx.1 + 3 405 c.195A>G c.(193-195)CAA>CAG p.Q65Q RUNX2_uc011dvy.1_Silent_p.Q65Q|RUNX2_uc003oxt.2_Silent_p.Q51Q NM_001024630 NP_001019801 Q13950 RUNX2_HUMAN runt-related transcription factor 2 isoform a 65 Poly-Gln. negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(2)|skin(1) 3 agcagcagcaacagcagcagc 0.274 NA 3 41 0 0 0.004672 0 0 FAM135A 57579 broad.mit.edu 37 6 71242879 71242879 + Silent SNP C C T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr6:71242879C>T uc003pfj.2 + 15 3925 c.3792C>T c.(3790-3792)CTC>CTT p.L1264L FAM135A_uc003pfi.2_Silent_p.L1068L|FAM135A_uc003pfh.2_Silent_p.L1051L|FAM135A_uc003pfl.2_Silent_p.L931L|FAM135A_uc003pfn.2_Silent_p.L470L|FAM135A_uc003pfo.1_Silent_p.L635L|FAM135A_uc010kan.1_Silent_p.L43L NM_001162529 NP_001156001 Q9P2D6 F135A_HUMAN hypothetical protein LOC57579 isoform c 1264 central_nervous_system(1) 1 GTGCAGATCTCCGATTAGTAA 0.323 NA 3 10 0 0 0.004672 0 0 C6orf165 154313 broad.mit.edu 37 6 88144689 88144689 + Missense_Mutation SNP G G A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr6:88144689G>A uc003plv.2 + 11 1504 c.1412G>A c.(1411-1413)AGA>AAA p.R471K SLC35A1_uc003plx.2_5'Flank|C6orf165_uc003plw.2_Missense_Mutation_p.R283K|C6orf165_uc010kbv.1_RNA|C6orf165_uc003plu.1_Missense_Mutation_p.R471K NM_001031743 NP_001026913 Q8IYR0 CF165_HUMAN hypothetical protein LOC154313 isoform 1 471 central_nervous_system(1) 1 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0419) GACATAGTTAGAGAAAAGGCC 0.274 NA 4 19 0 0 0.000248 0 0 GRM1 2911 broad.mit.edu 37 6 146720753 146720753 + Missense_Mutation SNP G G T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr6:146720753G>T uc010khw.1 + 8 3048 c.2578G>T c.(2578-2580)GTT>TTT p.V860F GRM1_uc010khv.1_Missense_Mutation_p.V860F|GRM1_uc003qll.2_Missense_Mutation_p.V860F|GRM1_uc011edz.1_Missense_Mutation_p.V860F|GRM1_uc011eea.1_Missense_Mutation_p.V860F NM_000838 NP_000829 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 isoform alpha 860 Cytoplasmic (Potential). synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2) 19 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) CCGCATGCATGTTGGCGATGG 0.527 NA 22 13 1.96895e-08 4.07188e-08 0.00278 1 0 THBS2 7058 broad.mit.edu 37 6 169628232 169628232 + Missense_Mutation SNP C C G TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr6:169628232C>G uc003qwt.2 - 16 2652 c.2404G>C c.(2404-2406)GAC>CAC p.D802H NM_003247 NP_003238 P35442 TSP2_HUMAN thrombospondin 2 precursor 802 TSP type-3 4. 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) CCATCAATGTCCACGGAGCAG 0.438 Esophageal Squamous(91;219 1934 18562 44706) NA 3 20 0 0 0.004672 0 0 CARD11 84433 broad.mit.edu 37 7 2976727 2976727 + Missense_Mutation SNP C C T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr7:2976727C>T uc003smv.2 - 9 1689 c.1285G>A c.(1285-1287)GTC>ATC p.V429I NM_032415 NP_115791 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 429 Potential. positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1) 50 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) TCCAGGTTGACGATGCAGGCC 0.622 NA Mis DLBCL 15 13 0 0 0.00245 0 0 RSPH10B2 728194 broad.mit.edu 37 7 6797501 6797501 + Nonsense_Mutation SNP C C T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr7:6797501C>T uc003sqw.1 + 3 464 c.193C>T c.(193-195)CAG>TAG p.Q65* RSPH10B2_uc010ktk.1_Nonsense_Mutation_p.Q65* NM_173565 NP_775836 B2RC85 R10B2_HUMAN radial spoke head 10 homolog B 65 ovary(1)|pancreas(1)|skin(1) 3 CCAAAACGTTCAGCAGAACGA 0.493 NA 61 196 0 0 0.00361 0 0 DNAH11 8701 broad.mit.edu 37 7 21744058 21744058 + Missense_Mutation SNP A A G TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr7:21744058A>G uc003svc.2 + 39 6332 c.6301A>G c.(6301-6303)ATG>GTG p.M2101V NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2101 microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 CTAGGTACTCATGAGAGCATT 0.388 NA Kartagener_syndrome 9 15 0 0 0.000443 0 0 OSBPL3 26031 broad.mit.edu 37 7 24902839 24902839 + Missense_Mutation SNP C C G TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr7:24902839C>G uc003sxf.2 - 9 1255 c.850G>C c.(850-852)GAT>CAT p.D284H OSBPL3_uc003sxd.2_RNA|OSBPL3_uc003sxe.2_Intron|OSBPL3_uc003sxg.2_Missense_Mutation_p.D284H|OSBPL3_uc003sxh.2_Intron|OSBPL3_uc003sxi.2_Intron|OSBPL3_uc003sxj.1_Missense_Mutation_p.D49H|OSBPL3_uc003sxk.1_Intron NM_015550 NP_056365 Q9H4L5 OSBL3_HUMAN oxysterol-binding protein-like protein 3 isoform 284 lipid transport lipid binding|protein binding skin(1) 1 CCTTTAGCATCTTTGCCAATA 0.493 NA 33 40 0 0 0.004289 0 0 CYCS 54205 broad.mit.edu 37 7 25163619 25163619 + Silent SNP C C T rs11548812 TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr7:25163619C>T uc003sxl.2 - 2 265 c.120G>A c.(118-120)AAG>AAA p.K40K NM_018947 NP_061820 P99999 CYC_HUMAN cytochrome c 40 activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|induction of apoptosis by intracellular signals|respiratory electron transport chain|transport cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|mitochondrial matrix|nucleus|protein phosphatase type 2A complex|respiratory chain electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding|protein binding ovary(1)|lung(1) 2 Melatonin(DB01065)|Minocycline(DB01017) CCTGACCTGTCTTCCGCCCAA 0.443 NA 20 27 0 0 0.00278 0 0 HNRNPA2B1 3181 broad.mit.edu 37 7 26236976 26236976 + Missense_Mutation SNP C C G TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr7:26236976C>G uc003sxr.3 - 4 475 c.259G>C c.(259-261)GAT>CAT p.D87H HNRNPA2B1_uc003sxs.3_Missense_Mutation_p.D75H NM_031243 NP_112533 P22626 ROA2_HUMAN heterogeneous nuclear ribonucleoprotein A2/B1 87 RRM 1. RNA transport catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm nucleotide binding|protein binding|protein binding|RNA binding|single-stranded telomeric DNA binding ovary(1)|central_nervous_system(1)|skin(1) 3 ACTCTCCCATCAATTGAATGA 0.448 NA T ETV1 prostate 12 127 0 0 0.000978 0 0 AEBP1 165 broad.mit.edu 37 7 44151804 44151804 + Missense_Mutation SNP G G A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr7:44151804G>A uc003tkb.2 + 17 2406 c.2101G>A c.(2101-2103)GAT>AAT p.D701N AEBP1_uc003tkc.3_Missense_Mutation_p.D276N|AEBP1_uc003tkd.2_Splice_Site NM_001129 NP_001120 Q8IUX7 AEBP1_HUMAN adipocyte enhancer binding protein 1 precursor 701 Interaction with PTEN (By similarity). cell adhesion|muscle organ development|proteolysis|skeletal system development cytoplasm|extracellular space|nucleus DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 CATCTTTGAAGATTTCCCGGA 0.582 NA 5 51 0 0 0.001984 0 0 ZNF713 349075 broad.mit.edu 37 7 56007380 56007380 + Missense_Mutation SNP G G C TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr7:56007380G>C uc003trc.1 + 4 1012 c.974G>C c.(973-975)GGA>GCA p.G325A ZNF713_uc003tra.1_Missense_Mutation_p.G338A|MRPS17_uc003trb.2_Intron NM_182633 NP_872439 Q8N859 ZN713_HUMAN zinc finger protein 713 325 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) ATTCATACTGGAGAAAAGCCC 0.408 NA 4 109 0 0 0.000248 0 0 ZNF716 441234 broad.mit.edu 37 7 57522864 57522864 + Silent SNP C C A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr7:57522864C>A uc011kdi.1 + 3 364 c.252C>A c.(250-252)GCC>GCA p.A84A NM_001159279 NP_001152751 zinc finger protein 716 ovary(2) 2 AGATGGTAGCCAAACACCCAG 0.443 NA 33 56 1.62565e-12 3.70139e-12 0.002445 1 0 POM121C 100101267 broad.mit.edu 37 7 75051137 75051137 + Missense_Mutation SNP C C A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr7:75051137C>A uc003udk.3 - 13 3283 c.2398G>T c.(2398-2400)GTC>TTC p.V800F NM_001099415 NP_001092885 A8CG34 P121C_HUMAN POM121 membrane glycoprotein (rat)-like 1042 Pore side (Potential). mRNA transport|protein transport|transmembrane transport endoplasmic reticulum membrane|nuclear membrane|nuclear pore protein binding 0 AAGGAGAAGACAGCAGTGGAG 0.657 NA 10 68 5.16669e-11 1.15384e-10 0.000978 1 0 PCLO 27445 broad.mit.edu 37 7 82784235 82784235 + Silent SNP T T G TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr7:82784235T>G uc003uhx.2 - 2 2011 c.1722A>C c.(1720-1722)CCA>CCC p.P574P PCLO_uc003uhv.2_Silent_p.P574P NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 520 Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 GTTTTGCAGATGGAGACACTG 0.483 NA 137 231 0 0 0.00361 0 0 NRCAM 4897 broad.mit.edu 37 7 107822364 107822364 + Missense_Mutation SNP C C A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr7:107822364C>A uc003vfb.2 - 24 3019 c.2548G>T c.(2548-2550)GGG>TGG p.G850W NRCAM_uc003vfc.2_Missense_Mutation_p.G834W|NRCAM_uc011kmk.1_Missense_Mutation_p.G845W|NRCAM_uc003vfd.2_Missense_Mutation_p.G826W|NRCAM_uc003vfe.2_Missense_Mutation_p.G826W NM_001037132 NP_001032209 Q92823 NRCAM_HUMAN neuronal cell adhesion molecule isoform A 850 Fibronectin type-III 3.|Extracellular (Potential). angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly external side of plasma membrane|integral to plasma membrane ankyrin binding ovary(3)|breast(2) 5 CGCACGTTCCCAGGAGCCACC 0.458 NA 18 24 5.35267e-07 1.0845e-06 0.000958 1 0 EIF3IP1 442720 broad.mit.edu 37 7 109599766 109599766 + Missense_Mutation SNP A A T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr7:109599766A>T uc003vfp.1 - 1 505 c.332T>A c.(331-333)ATC>AAC p.I111N NR_003024 Homo sapiens eukaryotic translation initiation factor 3, subunit I pseudogene 1 (EIF3IP1), non-coding RNA. 0 GCCTGCAATGATGCACTCCCC 0.488 NA 11 31 0 0 0.001855 0 0 GPR37 2861 broad.mit.edu 37 7 124386633 124386633 + Missense_Mutation SNP G G C TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr7:124386633G>C uc003vli.2 - 2 2439 c.1788C>G c.(1786-1788)TTC>TTG p.F596L NM_005302 NP_005293 O15354 GPR37_HUMAN G protein-coupled receptor 37 precursor 596 Cytoplasmic (Potential). endoplasmic reticulum membrane|integral to plasma membrane G-protein coupled receptor activity ovary(1)|lung(1)|central_nervous_system(1) 3 GTATGGTACTGAAAGGCGAGA 0.453 NA 4 95 0 0 0.000602 0 0 GRM8 2918 broad.mit.edu 37 7 126544084 126544084 + Missense_Mutation SNP C C A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr7:126544084C>A uc003vlr.2 - 4 1271 c.960G>T c.(958-960)CAG>CAT p.Q320H GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.Q320H|GRM8_uc010lkz.1_RNA|GRM8_uc003vlu.1_Missense_Mutation_p.Q41H NM_000845 NP_000836 O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 isoform a 320 Extracellular (Potential). negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1) 23 Prostate(267;0.186) L-Glutamic Acid(DB00142) TCTCCTCTTGCTGATAGACAG 0.418 NA HNSCC(24;0.065) 24 46 1.80694e-10 3.9844e-10 0.001786 1 0 ZC3HAV1 56829 broad.mit.edu 37 7 138768723 138768723 + Missense_Mutation SNP G G C TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr7:138768723G>C uc003vun.2 - 3 888 c.500C>G c.(499-501)CCG>CGG p.P167R ZC3HAV1_uc003vup.2_Missense_Mutation_p.P167R NM_020119 NP_064504 Q7Z2W4 ZCCHV_HUMAN zinc finger antiviral protein isoform 1 167 C3H1-type 3. response to virus cytoplasm|nucleus NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding ovary(1) 1 TCTTGAACACGGTGGCTGCTG 0.507 NA 12 26 0 0 0.001855 0 0 ADCK2 90956 broad.mit.edu 37 7 140373967 140373967 + Silent SNP T T C TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr7:140373967T>C uc003vvy.1 + 1 1015 c.837T>C c.(835-837)CCT>CCC p.P279P ADCK2_uc003vvz.2_Silent_p.P279P NM_052853 NP_443085 Q7Z695 ADCK2_HUMAN aarF domain containing kinase 2 279 Protein kinase. integral to membrane ATP binding|protein serine/threonine kinase activity 0 Melanoma(164;0.00956) TGCTCCTCCCTAAAGCTGACC 0.552 NA 3 66 0 0 0.004672 0 0 EPHB6 2051 broad.mit.edu 37 7 142567669 142567669 + Missense_Mutation SNP G G A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr7:142567669G>A uc011kst.1 + 17 3344 c.2557G>A c.(2557-2559)GAA>AAA p.E853K EPHB6_uc011ksu.1_Missense_Mutation_p.E853K|EPHB6_uc003wbs.2_Missense_Mutation_p.E561K|EPHB6_uc003wbt.2_Missense_Mutation_p.E327K|EPHB6_uc003wbu.2_Missense_Mutation_p.E561K|EPHB6_uc003wbv.2_Missense_Mutation_p.E237K NM_004445 NP_004436 O15197 EPHB6_HUMAN ephrin receptor EphB6 precursor 853 Cytoplasmic (Potential).|Protein kinase. 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) ACTCATGTGGGAAGTGATGAG 0.542 NA 4 34 0 0 0.000248 0 0 ZNF212 7988 broad.mit.edu 37 7 148950880 148950880 + Missense_Mutation SNP C C G TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr7:148950880C>G uc003wfp.2 + 5 958 c.862C>G c.(862-864)CCG>GCG p.P288A NM_012256 NP_036388 Q9UDV6 ZN212_HUMAN zinc finger protein 212 288 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|identical protein binding|zinc ion binding ovary(1) 1 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00171) TGTGGGCTGCCCGAAGCAGAA 0.547 NA 25 36 0 0 0.00333 0 0 RP1L1 94137 broad.mit.edu 37 8 10465978 10465978 + Missense_Mutation SNP G G T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr8:10465978G>T uc003wtc.2 - 4 5859 c.5630C>A c.(5629-5631)CCA>CAA p.P1877Q NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 1877 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) TTCTGCCTCTGGGGCCTCTAC 0.622 NA 125 159 7.82854e-59 2.0572e-58 0.00361 1 0 RP1L1 94137 broad.mit.edu 37 8 10466795 10466795 + Missense_Mutation SNP G G C TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr8:10466795G>C uc003wtc.2 - 4 5042 c.4813C>G c.(4813-4815)CAG>GAG p.Q1605E NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 1605 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) TGTCTGCGCTGCTGGGTCTGC 0.692 NA 9 9 0 0 0.000673 0 0 RP1L1 94137 broad.mit.edu 37 8 10470341 10470341 + Silent SNP G G T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr8:10470341G>T uc003wtc.2 - 4 1496 c.1267C>A c.(1267-1269)CGG>AGG p.R423R NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 423 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) CACCTCTTCCGAGCTGCCACT 0.667 NA 4 68 0.00024832 0.000483498 0.000248 1 0 CHRNA2 1135 broad.mit.edu 37 8 27320615 27320615 + Missense_Mutation SNP G G A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr8:27320615G>A uc010lur.2 - 6 1954 c.1345C>T c.(1345-1347)CCC>TCC p.P449S CHRNA2_uc011lal.1_Missense_Mutation_p.P434S|CHRNA2_uc010lus.2_Missense_Mutation_p.P251S NM_000742 NP_000733 Q15822 ACHA2_HUMAN cholinergic receptor, nicotinic, alpha 449 Cytoplasmic. cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity ovary(1) 1 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136) Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine(DB01336)|Metocurine Iodide(DB00416)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199) TCAGCCTTGGGACCTGAGGCC 0.642 NA 33 34 0 0 0.002096 0 0 ELP3 55140 broad.mit.edu 37 8 27957430 27957430 + Missense_Mutation SNP C C T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr8:27957430C>T uc003xgo.3 + 3 353 c.205C>T c.(205-207)CGC>TGC p.R69C ELP3_uc003xgn.3_Missense_Mutation_p.R54C|ELP3_uc011laq.1_5'UTR|ELP3_uc011lar.1_Intron|ELP3_uc011las.1_5'UTR|ELP3_uc011lat.1_Intron NM_018091 NP_060561 Q9H9T3 ELP3_HUMAN elongation protein 3 homolog 69 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding 0 Ovarian(32;0.0218) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183) TCCTCAGTATCGCAAGGTCTT 0.507 NA 6 77 0 0 0.001168 0 0 PXDNL 137902 broad.mit.edu 37 8 52336233 52336233 + Missense_Mutation SNP G G A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr8:52336233G>A uc003xqu.3 - 14 1798 c.1697C>T c.(1696-1698)ACT>ATT p.T566I NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 566 Ig-like C2-type 4. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|pancreas(1) 2 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) GTCGTAGATAGTCAGCGTGCC 0.483 NA 13 22 0 0 0.001368 0 0 CNGB3 54714 broad.mit.edu 37 8 87588277 87588277 + Missense_Mutation SNP C C G TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr8:87588277C>G uc003ydx.2 - 18 2231 c.2185G>C c.(2185-2187)GAA>CAA p.E729Q CNGB3_uc010maj.2_Missense_Mutation_p.E586Q NM_019098 NP_061971 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 729 Cytoplasmic (Potential). signal transduction|visual perception integral to membrane cGMP binding ovary(2)|pancreas(1) 3 tcttcattttctttttgttta 0.209 NA 15 23 0 0 0.00245 0 0 CDH17 1015 broad.mit.edu 37 8 95164106 95164106 + Missense_Mutation SNP G G T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr8:95164106G>T uc003ygh.2 - 13 1911 c.1786C>A c.(1786-1788)CTG>ATG p.L596M CDH17_uc011lgo.1_Missense_Mutation_p.L382M|CDH17_uc011lgp.1_Missense_Mutation_p.L596M NM_004063 NP_004054 Q12864 CAD17_HUMAN cadherin 17 precursor 596 Cadherin 6.|Extracellular (Potential). integral to membrane calcium ion binding ovary(5)|skin(1) 6 Breast(36;4.65e-06) BRCA - Breast invasive adenocarcinoma(8;0.00691) CTTATGTCCAGACCTTCTGGA 0.547 NA 25 48 2.65835e-16 6.38551e-16 0.001271 1 0 TM7SF4 81501 broad.mit.edu 37 8 105361554 105361554 + Missense_Mutation SNP G G C TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr8:105361554G>C uc003ylx.1 + 2 823 c.774G>C c.(772-774)GAG>GAC p.E258D NM_030788 NP_110415 Q9H295 TM7S4_HUMAN dendritic cell-specific transmembrane protein 258 osteoclast differentiation cell surface|integral to membrane|plasma membrane pancreas(2)|large_intestine(1)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) ATGAAAGGGAGAGACATCAAC 0.463 NA 4 82 0 0 0.000248 0 0 CSMD3 114788 broad.mit.edu 37 8 113662525 113662525 + Missense_Mutation SNP G G T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr8:113662525G>T uc003ynu.2 - 19 3217 c.3058C>A c.(3058-3060)CGT>AGT p.R1020S CSMD3_uc003yns.2_Missense_Mutation_p.R292S|CSMD3_uc003ynt.2_Missense_Mutation_p.R980S|CSMD3_uc011lhx.1_Missense_Mutation_p.R916S NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1020 Extracellular (Potential).|Sushi 5. 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 CCATAGCGACGGCCATGTACA 0.423 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 34 50 6.53348e-20 1.61375e-19 0.003755 1 0 ZHX2 22882 broad.mit.edu 37 8 123963987 123963987 + Missense_Mutation SNP G G T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr8:123963987G>T uc003ypk.1 + 3 804 c.237G>T c.(235-237)GAG>GAT p.E79D NM_014943 NP_055758 Q9Y6X8 ZHX2_HUMAN zinc fingers and homeoboxes 2 79 C2H2-type 1. cytoplasm|nucleus|plasma membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105) STAD - Stomach adenocarcinoma(47;0.00527) GTGGTTATGAGTGCAAATACT 0.483 Esophageal Squamous(94;1056 1388 11767 13799 49639) NA 24 35 3.01185e-09 6.37964e-09 0.003954 1 0 C9orf72 203228 broad.mit.edu 37 9 27556654 27556654 + Missense_Mutation SNP C C T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr9:27556654C>T uc003zqq.2 - 8 1093 c.996G>A c.(994-996)ATG>ATA p.M332I NM_018325 NP_060795 Q96LT7 CI072_HUMAN hypothetical protein LOC203228 isoform a 332 ovary(3)|central_nervous_system(1) 4 all_neural(11;7.57e-10) LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016) GCTCGGATCTCATGTATCTAC 0.448 NA 50 23 0 0 0.00361 0 0 TAF1L 138474 broad.mit.edu 37 9 32634692 32634692 + Missense_Mutation SNP C C T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr9:32634692C>T uc003zrg.1 - 1 976 c.886G>A c.(886-888)GAG>AAG p.E296K uc003zrh.1_RNA NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN TBP-associated factor RNA polymerase 1-like 296 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1) 26 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) CATTCCACCTCCTGGATCTGC 0.502 NA 5 76 0 0 0.001984 0 0 UBAP2 55833 broad.mit.edu 37 9 33953410 33953410 + Missense_Mutation SNP G G A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr9:33953410G>A uc003ztq.1 - 12 1042 c.929C>T c.(928-930)TCC>TTC p.S310F UBAP2_uc011loc.1_Missense_Mutation_p.S219F|UBAP2_uc011lod.1_Missense_Mutation_p.S43F|UBAP2_uc011loe.1_Missense_Mutation_p.S65F|UBAP2_uc011lof.1_Missense_Mutation_p.S235F|UBAP2_uc011log.1_Missense_Mutation_p.S256F|UBAP2_uc003ztr.2_Missense_Mutation_p.S182F|SNORD121A_uc010mjz.2_5'Flank NM_018449 NP_060919 Q5T6F2 UBAP2_HUMAN ubiquitin associated protein 2 310 ovary(3) 3 LUSC - Lung squamous cell carcinoma(29;0.00575) GBM - Glioblastoma multiforme(74;0.168) AGTTTCAAAGGAGTTGGCTTC 0.507 NA 4 27 0 0 0.000248 0 0 MAMDC2 256691 broad.mit.edu 37 9 72755089 72755089 + Missense_Mutation SNP C C A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr9:72755089C>A uc004ahm.2 + 8 1640 c.1023C>A c.(1021-1023)AGC>AGA p.S341R MAMDC2_uc004ahn.2_RNA NM_153267 NP_694999 Q7Z304 MAMC2_HUMAN MAM domain containing 2 precursor 341 MAM 3. endoplasmic reticulum|membrane central_nervous_system(1)|pancreas(1) 2 TGGAAGCCAGCTGCAATTTTG 0.448 NA 33 48 1.21669e-08 2.54631e-08 0.003271 1 0 PRUNE2 158471 broad.mit.edu 37 9 79321336 79321336 + Missense_Mutation SNP C C T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr9:79321336C>T uc010mpk.2 - 8 5978 c.5854G>A c.(5854-5856)GAA>AAA p.E1952K PRUNE2_uc004akj.3_5'Flank|PRUNE2_uc010mpl.1_5'Flank NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN prune homolog 2 1952 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity 0 GTAGGTGTTTCAGGAGTCAGC 0.463 NA 5 92 0 0 0.001168 0 0 SPTAN1 6709 broad.mit.edu 37 9 131371197 131371197 + Silent SNP C C T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr9:131371197C>T uc004bvl.3 + 35 4649 c.4536C>T c.(4534-4536)ATC>ATT p.I1512I SPTAN1_uc004bvm.3_Silent_p.I1512I|SPTAN1_uc004bvn.3_Silent_p.I1492I NM_003127 NP_003118 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 1512 Spectrin 16. actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton breast(5)|ovary(4)|pancreas(1) 10 ACCAGCTCATCGCTGCCGGCC 0.577 NSCLC(120;833 1744 2558 35612 37579) NA 9 230 0 0 0.000443 0 0 C9orf171 389799 broad.mit.edu 37 9 135285781 135285781 + Silent SNP C C T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr9:135285781C>T uc004cbn.2 + 1 171 c.123C>T c.(121-123)ATC>ATT p.I41I C9orf171_uc004cbo.2_Silent_p.I41I NM_207417 NP_997300 Q6ZQR2 CI171_HUMAN hypothetical protein LOC389799 41 ovary(4)|large_intestine(1) 5 TGGCGGACATCCGTTCCGGCA 0.592 NA 7 6 0 0 0.004482 0 0 C9orf171 389799 broad.mit.edu 37 9 135285844 135285844 + Silent SNP C C T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr9:135285844C>T uc004cbn.2 + 1 234 c.186C>T c.(184-186)CTC>CTT p.L62L C9orf171_uc004cbo.2_Silent_p.L62L NM_207417 NP_997300 Q6ZQR2 CI171_HUMAN hypothetical protein LOC389799 62 ovary(4)|large_intestine(1) 5 AGAACCCTCTCATCGTCAAGG 0.463 NA 12 5 0 0 0.001855 0 0 KIAA0649 9858 broad.mit.edu 37 9 138377496 138377496 + Silent SNP A A T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr9:138377496A>T uc004cfr.1 + 4 1689 c.1140A>T c.(1138-1140)ACA>ACT p.T380T NM_014811 NP_055626 Q5T8A7 K0649_HUMAN 1A6/DRIM (down-regulated in metastasis) 380 nucleolus protein binding ovary(2)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(145;6.91e-08)|Epithelial(140;4.69e-07)|all cancers(34;9.33e-06) TGCAGAAAACACGCAAGGAGG 0.627 NA 23 42 0 0 0.002299 0 0 KCNT1 57582 broad.mit.edu 37 9 138657014 138657014 + Missense_Mutation SNP C C A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr9:138657014C>A uc011mdq.1 + 12 1247 c.1173C>A c.(1171-1173)AAC>AAA p.N391K KCNT1_uc011mdr.1_Missense_Mutation_p.N218K|KCNT1_uc010nbf.2_Missense_Mutation_p.N346K|KCNT1_uc004cgo.1_Missense_Mutation_p.N140K NM_020822 NP_065873 Q5JUK3 KCNT1_HUMAN potassium channel, subfamily T, member 1 391 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) ACTTCCTGAACGAGTTCTACG 0.642 NA 30 71 9.65963e-10 2.08398e-09 0.003271 1 0 TUBBP5 643224 broad.mit.edu 37 9 141070935 141070935 + Missense_Mutation SNP C C T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr9:141070935C>T uc004com.2 + 4 599 c.338C>T c.(337-339)GCC>GTC p.A113V TUBBP5_uc010ncq.2_3'UTR RecName: Full=Putative tubulin beta-4q chain; 0 CCCTACAACGCCACCCTCTCA 0.517 NA 5 75 0 0 0.001168 0 0 FAM47C 442444 broad.mit.edu 37 X 37028632 37028632 + Nonsense_Mutation SNP G G T TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chrX:37028632G>T uc004ddl.1 + 1 2163 c.2149G>T c.(2149-2151)GAG>TAG p.E717* NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN hypothetical protein LOC442444 717 ovary(3) 3 TCTCCACGCGGAGCCTCCTGA 0.627 NA 50 14 1.81118e-26 4.57046e-26 0.00361 1 0 MED12 9968 broad.mit.edu 37 X 70346925 70346925 + Missense_Mutation SNP G G C TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chrX:70346925G>C uc004dyy.2 + 20 2991 c.2792G>C c.(2791-2793)CGG>CCG p.R931P MED12_uc011mpq.1_Missense_Mutation_p.R931P|MED12_uc004dyz.2_Missense_Mutation_p.R931P|MED12_uc004dza.2_Missense_Mutation_p.R778P|MED12_uc010nla.2_5'Flank NM_005120 NP_005111 Q93074 MED12_HUMAN mediator complex subunit 12 931 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) GCTGTCCTGCGGCACTATCAT 0.527 NA 20 9 0 0 0.000958 0 0 CYLC1 1538 broad.mit.edu 37 X 83128707 83128707 + Missense_Mutation SNP G G C TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chrX:83128707G>C uc004eei.1 + 4 1012 c.991G>C c.(991-993)GAG>CAG p.E331Q CYLC1_uc004eeh.1_Missense_Mutation_p.E330Q NM_021118 NP_066941 P35663 CYLC1_HUMAN cylicin, basic protein of sperm head 331 2. cell differentiation|multicellular organismal development|spermatogenesis acrosomal matrix|cytoskeletal calyx structural molecule activity ovary(4)|skin(1) 5 GAAGGACACAGAGTCTACTGA 0.234 NA 9 1 0 0 0.004482 0 0 THOC2 57187 broad.mit.edu 37 X 122830595 122830595 + Missense_Mutation SNP G G A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chrX:122830595G>A uc004etu.2 - 6 475 c.443C>T c.(442-444)TCA>TTA p.S148L THOC2_uc011muh.1_Missense_Mutation_p.S69L|THOC2_uc011mui.1_Missense_Mutation_p.S33L NM_001081550 NP_001075019 Q8NI27 THOC2_HUMAN THO complex 2 148 intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex protein binding|RNA binding ovary(3) 3 GATTTTAACTGACTTTTGATT 0.348 NA 5 29 0 0 0.000602 0 0 STAG2 10735 broad.mit.edu 37 X 123224615 123224615 + Splice_Site SNP G G A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chrX:123224615G>A uc004etz.3 + 30 3806 c.3467_splice c.e30+1 p.N1156_splice STAG2_uc004eua.2_Splice_Site_p.N1156_splice|STAG2_uc004eub.2_Splice_Site_p.N1156_splice|STAG2_uc004euc.2_Splice_Site_p.N1156_splice|STAG2_uc004eud.2_Splice_Site_p.N1156_splice|STAG2_uc004eue.2_Splice_Site_p.N1156_splice NM_006603 NP_006594 Q8N3U4 STAG2_HUMAN stromal antigen 2 isoform b cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding ovary(4)|skin(1) 5 TTGATTATAAGTAAGTACATT 0.338 NA 6 19 0 0 0.001984 0 0 SMARCA1 6594 broad.mit.edu 37 X 128650465 128650465 + Nonsense_Mutation SNP G G A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chrX:128650465G>A uc004eun.3 - 3 384 c.271C>T c.(271-273)CGA>TGA p.R91* SMARCA1_uc004eup.3_Nonsense_Mutation_p.R91*|SMARCA1_uc011muk.1_Nonsense_Mutation_p.R91*|SMARCA1_uc011mul.1_Nonsense_Mutation_p.R91* NM_003069 NP_003060 P28370 SMCA1_HUMAN SWI/SNF-related matrix-associated 91 ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent NURF complex ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding ovary(3)|skin(1) 4 CTCTTTGCTCGGTCGGCTTTC 0.299 NA 41 10 0 0 0.001951 0 0 GPR112 139378 broad.mit.edu 37 X 135405197 135405197 + Missense_Mutation SNP C C A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chrX:135405197C>A uc004ezu.1 + 5 622 c.331C>A c.(331-333)CGT>AGT p.R111S GPR112_uc010nsb.1_Intron NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 111 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) CTTTTCTATCCGTCACCACCT 0.433 NA 53 14 5.99346e-17 1.44463e-16 0.00361 1 0 SLITRK2 84631 broad.mit.edu 37 X 144903954 144903954 + Missense_Mutation SNP G G A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chrX:144903954G>A uc004fcd.2 + 5 1001 c.11G>A c.(10-12)GGC>GAC p.G4D SLITRK2_uc010nsp.2_Missense_Mutation_p.G4D|SLITRK2_uc010nso.2_Missense_Mutation_p.G4D|SLITRK2_uc011mwq.1_Missense_Mutation_p.G4D|SLITRK2_uc011mwr.1_Missense_Mutation_p.G4D|SLITRK2_uc011mws.1_Missense_Mutation_p.G4D|SLITRK2_uc004fcg.2_Missense_Mutation_p.G4D|SLITRK2_uc011mwt.1_Missense_Mutation_p.G4D NM_032539 NP_115928 Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 precursor 4 integral to membrane ovary(5)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(192;6.56e-05) ATGCTGAGCGGCGTTTGGTTC 0.532 NA 17 6 0 0 0.000958 0 0 MTMR1 8776 broad.mit.edu 37 X 149905079 149905079 + Missense_Mutation SNP G G A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chrX:149905079G>A uc004fei.2 + 10 1204 c.1069G>A c.(1069-1071)GGA>AGA p.G357R MTMR1_uc011mya.1_Missense_Mutation_p.G263R|MTMR1_uc004feh.1_Missense_Mutation_p.G365R|MTMR1_uc004fej.2_RNA|MTMR1_uc010ntf.2_Intron NM_003828 NP_003819 Q13613 MTMR1_HUMAN myotubularin-related protein 1 357 Myotubularin phosphatase. plasma membrane protein tyrosine phosphatase activity ovary(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) AAAGGGTGGAGGATATGAAAG 0.363 NA 17 8 0 0 0.001216 0 0 SLC18A3 6572 broad.mit.edu 37 10 50819502 50819502 + Frame_Shift_Del DEL C C - TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr10:50819502delC uc001jhw.2 + 1 1156 c.716delC c.(715-717)GCCfs p.A239fs CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank NM_003055 NP_003046 Q16572 VACHT_HUMAN vesicular acetylcholine transporter 239 Lumenal, vesicle (Potential). neurotransmitter secretion clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction acetylcholine transmembrane transporter activity ovary(2) 2 TATGAGTTCGCCGGCAAGCGC 0.662 NA 7 10 --- --- --- --- NA NA NA NA NA OR4C16 219428 broad.mit.edu 37 11 55339854 55339854 + Frame_Shift_Del DEL T T - TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr11:55339854delT uc010rih.1 + 1 251 c.251delT c.(250-252)CTTfs p.L84fs NM_001004701 NP_001004701 Q8NGL9 OR4CG_HUMAN olfactory receptor, family 4, subfamily C, 84 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_epithelial(135;0.0748) GTGGATGCCCTTTTGAAGAAG 0.443 NA 81 159 --- --- --- --- NA NA NA NA NA OR11H12 440153 broad.mit.edu 37 14 19378148 19378149 + Frame_Shift_Del DEL CC CC - TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr14:19378148_19378149delCC uc010tkp.1 + 1 555_556 c.555_556delCC c.(553-558)GGCCCAfs p.G185fs NM_001013354 NP_001013372 B2RN74 O11HC_HUMAN olfactory receptor, family 11, subfamily H, 185_186 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CCTTCTGTGGCCCAAACATTAT 0.485 NA 10 74 --- --- --- --- NA NA NA NA NA MKRN3 7681 broad.mit.edu 37 15 23811405 23811405 + Frame_Shift_Del DEL C C - TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr15:23811405delC uc001ywh.3 + 1 952 c.476delC c.(475-477)GCCfs p.A159fs MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Frame_Shift_Del_p.A159fs NM_005664 NP_005655 Q13064 MKRN3_HUMAN makorin ring finger protein 3 159 ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding lung(6)|large_intestine(2)|ovary(2) 10 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) GTGGCGGAAGCCCCCCCGGCT 0.642 NA 9 27 --- --- --- --- NA NA NA NA NA PHF23 79142 broad.mit.edu 37 17 7139891 7139891 + Frame_Shift_Del DEL G G - TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr17:7139891delG uc002gfa.2 - 4 582 c.355delC c.(355-357)CTGfs p.L119fs DVL2_uc002gez.1_5'Flank|DVL2_uc010vtr.1_5'Flank|DVL2_uc010clz.1_5'Flank|PHF23_uc010vtt.1_Intron|PHF23_uc010cma.2_5'UTR NM_024297 NP_077273 Q9BUL5 PHF23_HUMAN PHD finger protein 23 119 zinc ion binding 0 GGGGCCTGCAGACGAGAGAAA 0.537 NA 39 69 --- --- --- --- NA NA NA NA NA STK11 6794 broad.mit.edu 37 19 1221313 1221314 + Frame_Shift_Ins INS - - C rs67873004 TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr19:1221313_1221314insC uc002lrl.1 + 6 1951_1952 c.836_837insC c.(835-837)GGCfs p.G279fs NM_000455 NP_000446 Q15831 STK11_HUMAN serine/threonine protein kinase 11 279 Protein kinase. anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(19)|p.P281fs*6(2)|p.?(2)|p.G279F(1)|p.Y246fs*3(1) lung(174)|cervix(35)|skin(15)|large_intestine(12)|pancreas(6)|gastrointestinal_tract_(site_indeterminate)(5)|stomach(4)|ovary(4)|breast(2)|upper_aerodigestive_tract(1)|testis(1)|liver(1)|biliary_tract(1)|small_intestine(1)|urinary_tract(1)|oesophagus(1)|prostate(1)|kidney(1) 266 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) GGCGACTGTGGCCCCCCGCTCT 0.604 14 D|Mis|N|F|S NSCLC|pancreatic jejunal harmartoma|ovarian|testicular|pancreatic Peutz-Jeghers_syndrome TSP Lung(3;<1E-08) 4 5 --- --- --- --- NA NA NA NA NA KEAP1 9817 broad.mit.edu 37 19 10600425 10600425 + Frame_Shift_Del DEL C C - TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr19:10600425delC uc002moq.1 - 4 1586 c.1430delG c.(1429-1431)GGCfs p.G477fs KEAP1_uc002mop.1_Frame_Shift_Del_p.G195fs|KEAP1_uc002mor.1_Frame_Shift_Del_p.G477fs NM_012289 NP_036421 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 477 Kelch 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding lung(12)|breast(3)|ovary(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) CCCGTCAAAGCCCCCCACGGC 0.577 NA 25 17 --- --- --- --- NA NA NA NA NA CSNK1A1 1452 broad.mit.edu 37 5 148930440 148930440 + Frame_Shift_Del DEL C C - TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chr5:148930440delC uc003lqx.1 - 1 568 c.88delG c.(88-90)GACfs p.D30fs CSNK1A1_uc011dcc.1_5'Flank|CSNK1A1_uc003lqv.1_5'Flank|CSNK1A1_uc003lqw.1_Frame_Shift_Del_p.D30fs|CSNK1A1_uc003lqy.1_Frame_Shift_Del_p.D30fs|CSNK1A1_uc010jha.1_Frame_Shift_Del_p.D30fs NM_001892 NP_001883 P48729 KC1A_HUMAN casein kinase 1, alpha 1 isoform 2 30 ATP (By similarity).|Protein kinase. cell division|mitosis|Wnt receptor signaling pathway centrosome|condensed chromosome kinetochore|cytosol|nuclear speck ATP binding|protein binding|protein binding|protein serine/threonine kinase activity breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.0407) AAATAGATGTCCCCGAAGGAG 0.537 Colon(5;64 69 1309 10383) NA 25 50 --- --- --- --- NA NA NA NA NA FTSJ1 24140 broad.mit.edu 37 X 48339704 48339704 + Frame_Shift_Del DEL A A - TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chrX:48339704delA uc004djo.1 + 7 765 c.442delA c.(442-444)AAGfs p.K148fs FTSJ1_uc004djl.2_Frame_Shift_Del_p.K148fs|FTSJ1_uc004djm.2_Frame_Shift_Del_p.K148fs|FTSJ1_uc004djn.1_Frame_Shift_Del_p.K148fs|FTSJ1_uc004djp.1_Frame_Shift_Del_p.K148fs|FTSJ1_uc011mlw.1_Frame_Shift_Del_p.K11fs NM_012280 NP_036412 Q9UET6 RRMJ1_HUMAN FtsJ homolog 1 isoform a 148 RNA methylation|rRNA processing methyltransferase activity|nucleic acid binding 0 ACATGTCCTGAAGCCAGGGGG 0.612 NA 12 3 --- --- --- --- NA NA NA NA NA STAG2 10735 broad.mit.edu 37 X 123197866 123197866 + Frame_Shift_Del DEL A A - TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq d17eda6c-b986-4ba3-b0e9-bac7a751c26a 9e3e8148-b609-4b1d-9ac9-ac8f730b14ef g.chrX:123197866delA uc004etz.3 + 19 2329 c.1990delA c.(1990-1992)AAAfs p.K664fs STAG2_uc004eua.2_Frame_Shift_Del_p.K664fs|STAG2_uc004eub.2_Frame_Shift_Del_p.K664fs|STAG2_uc004euc.2_Frame_Shift_Del_p.K664fs|STAG2_uc004eud.2_Frame_Shift_Del_p.K664fs|STAG2_uc004eue.2_Frame_Shift_Del_p.K664fs NM_006603 NP_006594 Q8N3U4 STAG2_HUMAN stromal antigen 2 isoform b 664 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding ovary(4)|skin(1) 5 ATTGGCAGATAAATTTAACCG 0.343 NA 9 8 --- --- --- --- NA NA NA NA NA