Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele filter CAMTA1 23261 broad.mit.edu 37 1 7805028 7805028 + Missense_Mutation SNP G T T TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr1:7805028G>T uc001aoi.2 + 17 4523 c.4316G>T c.(4315-4317)TGG>TTG p.W1439L CAMTA1_uc010nzv.1_Missense_Mutation_p.W526L|CAMTA1_uc001aok.3_Missense_Mutation_p.W482L|CAMTA1_uc001aoj.2_Missense_Mutation_p.W395L|CAMTA1_uc009vmf.2_Missense_Mutation_p.W43L NM_015215 NP_056030 Q9Y6Y1 CMTA1_HUMAN calmodulin-binding transcription activator 1 1439 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1) 9 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) ACAATGAGCTGGCTGGCCAGT 0.532 14 38 --- --- --- --- PASS CAMTA1 23261 broad.mit.edu 37 1 7805029 7805029 + Missense_Mutation SNP G C C TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr1:7805029G>C uc001aoi.2 + 17 4524 c.4317G>C c.(4315-4317)TGG>TGC p.W1439C CAMTA1_uc010nzv.1_Missense_Mutation_p.W526C|CAMTA1_uc001aok.3_Missense_Mutation_p.W482C|CAMTA1_uc001aoj.2_Missense_Mutation_p.W395C|CAMTA1_uc009vmf.2_Missense_Mutation_p.W43C NM_015215 NP_056030 Q9Y6Y1 CMTA1_HUMAN calmodulin-binding transcription activator 1 1439 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1) 9 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) CAATGAGCTGGCTGGCCAGTT 0.527 12 38 --- --- --- --- PASS ZBTB40 9923 broad.mit.edu 37 1 22846715 22846715 + Missense_Mutation SNP A C C TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr1:22846715A>C uc001bft.2 + 15 3506 c.2995A>C c.(2995-2997)ACC>CCC p.T999P ZBTB40_uc001bfu.2_Missense_Mutation_p.T999P|ZBTB40_uc009vqi.1_Missense_Mutation_p.T887P NM_001083621 NP_001077090 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 999 C2H2-type 7. bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) GCACGTGGTGACCCACGTTGG 0.622 7 34 --- --- --- --- PASS PTPRU 10076 broad.mit.edu 37 1 29651779 29651779 + Missense_Mutation SNP G T T TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr1:29651779G>T uc001bru.2 + 30 4329 c.4219G>T c.(4219-4221)GAC>TAC p.D1407Y PTPRU_uc001brv.2_Missense_Mutation_p.D1403Y|PTPRU_uc001brw.2_Missense_Mutation_p.D1397Y|PTPRU_uc009vtq.2_Missense_Mutation_p.D1401Y|PTPRU_uc009vtr.2_Missense_Mutation_p.D1394Y|PTPRU_uc001brx.2_Missense_Mutation_p.D133Y NM_005704 NP_005695 Q92729 PTPRU_HUMAN protein tyrosine phosphatase, receptor type, U 1407 Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential). canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway cell-cell junction|integral to plasma membrane beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 7 Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871) CAACTTGGTGGACGTTTTCTT 0.582 27 57 --- --- --- --- PASS ZBTB8A 653121 broad.mit.edu 37 1 33060763 33060763 + Missense_Mutation SNP C T T TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr1:33060763C>T uc001bvn.2 + 4 1417 c.932C>T c.(931-933)CCA>CTA p.P311L ZBTB8A_uc001bvk.2_RNA|ZBTB8A_uc001bvm.2_Missense_Mutation_p.P311L NM_001040441 NP_001035531 Q96BR9 ZBT8A_HUMAN zinc finger and BTB domain containing 8A 311 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AGGCCCTATCCATGTCAAGCT 0.433 23 70 --- --- --- --- PASS ZBTB8OS 339487 broad.mit.edu 37 1 33099247 33099247 + Missense_Mutation SNP C A A TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr1:33099247C>A uc001bvp.2 - 4 381 c.362G>T c.(361-363)CGG>CTG p.R121L ZBTB8OS_uc001bvo.1_Intron|ZBTB8OS_uc001bvq.2_Missense_Mutation_p.R109L NM_178547 NP_848642 Q8IWT0 ARCH_HUMAN zinc finger and BTB domain containing 8 opposite 109 0 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) TTTGCTTACCCGGGGTATGAA 0.328 6 23 --- --- --- --- PASS MACF1 23499 broad.mit.edu 37 1 39800752 39800752 + Missense_Mutation SNP C T T TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr1:39800752C>T uc010oiu.1 + 1 3943 c.3812C>T c.(3811-3813)TCT>TTT p.S1271F MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 2836 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) GTGAGAGTTTCTGATGGGGAG 0.373 3 16 --- --- --- --- PASS MACF1 23499 broad.mit.edu 37 1 39800780 39800780 + Missense_Mutation SNP G T T TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr1:39800780G>T uc010oiu.1 + 1 3971 c.3840G>T c.(3838-3840)AGG>AGT p.R1280S MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 2845 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) AAAAGAGCAGGGAAATTTCCT 0.363 7 20 --- --- --- --- PASS MPL 4352 broad.mit.edu 37 1 43804366 43804366 + Silent SNP G A A TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr1:43804366G>A uc001ciw.2 + 3 411 c.366G>A c.(364-366)CAG>CAA p.Q122Q MPL_uc001civ.2_Silent_p.Q122Q|MPL_uc009vwr.2_Silent_p.Q115Q NM_005373 NP_005364 P40238 TPOR_HUMAN myeloproliferative leukemia virus oncogene 122 Extracellular (Potential). cell proliferation|platelet activation integral to plasma membrane cytokine receptor activity haematopoietic_and_lymphoid_tissue(361)|upper_aerodigestive_tract(1)|pancreas(1) 363 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CTCGGACTCAGCGAGTCCTCT 0.572 Mis MPD MPD congenital amegakaryocytic thrombocytopenia 14 44 --- --- --- --- PASS KIAA0467 23334 broad.mit.edu 37 1 43898249 43898249 + Missense_Mutation SNP T G G TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr1:43898249T>G uc001cjk.1 + 23 3269 c.2807T>G c.(2806-2808)ATC>AGC p.I936S NM_015284 NP_056099 Q5T011 SZT2_HUMAN hypothetical protein LOC23334 1835 peroxisome 0 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GTCCCCCTCATCAGCCTGCCC 0.612 27 72 --- --- --- --- PASS SGIP1 84251 broad.mit.edu 37 1 67208762 67208762 + Missense_Mutation SNP A G G TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr1:67208762A>G uc001dcr.2 + 25 2688 c.2471A>G c.(2470-2472)TAC>TGC p.Y824C SGIP1_uc010opd.1_Missense_Mutation_p.Y424C|SGIP1_uc001dcs.2_Missense_Mutation_p.Y424C|SGIP1_uc001dct.2_Missense_Mutation_p.Y426C|SGIP1_uc009wat.2_Missense_Mutation_p.Y618C|SGIP1_uc001dcu.2_Missense_Mutation_p.Y329C NM_032291 NP_115667 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting 824 positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex microtubule binding|phospholipid binding|SH3 domain binding ovary(3) 3 GCAGGAAAATACTTGGCAGAT 0.328 11 49 --- --- --- --- PASS PTGER3 5733 broad.mit.edu 37 1 71440049 71440049 + Missense_Mutation SNP T C C TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr1:71440049T>C uc001dfg.1 - 3 1331 c.1100A>G c.(1099-1101)TAT>TGT p.Y367C PTGER3_uc001dfh.1_Intron|PTGER3_uc001dfi.1_Intron|PTGER3_uc001dfj.1_Intron|PTGER3_uc001dfk.1_Intron|PTGER3_uc001dfl.1_Intron|PTGER3_uc009wbm.1_Intron|PTGER3_uc001dfm.1_RNA|PTGER3_uc001dfn.2_Intron|PTGER3_uc009wbn.1_Intron|PTGER3_uc009wbo.2_Missense_Mutation_p.Y367C|PTGER3_uc001dfo.2_Intron|PTGER3_uc001dfp.1_Missense_Mutation_p.Y367C NM_198714 NP_942007 P43115 PE2R3_HUMAN prostaglandin E receptor 3, subtype EP3 isoform 367 Cytoplasmic (Potential). cell death|positive regulation of fever generation|transcription, DNA-dependent integral to plasma membrane|nuclear envelope ligand-dependent nuclear receptor activity|prostaglandin E receptor activity pancreas(1)|lung(1)|skin(1) 3 Bimatoprost(DB00905) gctggatgcatagttgtttgt 0.144 9 29 --- --- --- --- PASS PTGER3 5733 broad.mit.edu 37 1 71440051 71440051 + Missense_Mutation SNP G T T TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr1:71440051G>T uc001dfg.1 - 3 1329 c.1098C>A c.(1096-1098)AAC>AAA p.N366K PTGER3_uc001dfh.1_Intron|PTGER3_uc001dfi.1_Intron|PTGER3_uc001dfj.1_Intron|PTGER3_uc001dfk.1_Intron|PTGER3_uc001dfl.1_Intron|PTGER3_uc009wbm.1_Intron|PTGER3_uc001dfm.1_RNA|PTGER3_uc001dfn.2_Intron|PTGER3_uc009wbn.1_Intron|PTGER3_uc009wbo.2_Missense_Mutation_p.N366K|PTGER3_uc001dfo.2_Intron|PTGER3_uc001dfp.1_Missense_Mutation_p.N366K NM_198714 NP_942007 P43115 PE2R3_HUMAN prostaglandin E receptor 3, subtype EP3 isoform 366 Cytoplasmic (Potential). cell death|positive regulation of fever generation|transcription, DNA-dependent integral to plasma membrane|nuclear envelope ligand-dependent nuclear receptor activity|prostaglandin E receptor activity pancreas(1)|lung(1)|skin(1) 3 Bimatoprost(DB00905) tggatgcatagttgtttgtgt 0.134 10 28 --- --- --- --- PASS GIPC2 54810 broad.mit.edu 37 1 78560770 78560770 + Missense_Mutation SNP G T T TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr1:78560770G>T uc001dik.2 + 3 751 c.561G>T c.(559-561)AAG>AAT p.K187N NM_017655 NP_060125 Q8TF65 GIPC2_HUMAN PDZ domain protein GIPC2 187 PDZ. cytoplasm ovary(1) 1 AATTAAAAAAGGAGGAACTCT 0.383 14 48 --- --- --- --- PASS GIPC2 54810 broad.mit.edu 37 1 78560771 78560771 + Nonsense_Mutation SNP G T T rs138753471 byFrequency TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr1:78560771G>T uc001dik.2 + 3 752 c.562G>T c.(562-564)GAG>TAG p.E188* NM_017655 NP_060125 Q8TF65 GIPC2_HUMAN PDZ domain protein GIPC2 188 PDZ. cytoplasm ovary(1) 1 ATTAAAAAAGGAGGAACTCTT 0.388 14 48 --- --- --- --- PASS WDR47 22911 broad.mit.edu 37 1 109524461 109524461 + Missense_Mutation SNP C A A TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr1:109524461C>A uc001dwj.2 - 13 2668 c.2292G>T c.(2290-2292)TGG>TGT p.W764C WDR47_uc001dwl.2_Missense_Mutation_p.W772C|WDR47_uc001dwi.2_Missense_Mutation_p.W765C|WDR47_uc010ovf.1_Missense_Mutation_p.W689C NM_001142551 NP_001136023 O94967 WDR47_HUMAN WD repeat domain 47 isoform 3 764 WD 4. ovary(1) 1 all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822) Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244) TCCAGCCACTCCAGGTATAAA 0.378 18 40 --- --- --- --- PASS PDE4DIP 9659 broad.mit.edu 37 1 144881450 144881450 + Missense_Mutation SNP T C C TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr1:144881450T>C uc001elw.3 - 25 4037 c.3746A>G c.(3745-3747)GAG>GGG p.E1249G NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.E1205G|PDE4DIP_uc001elv.3_Missense_Mutation_p.E256G NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 1249 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TCTGTATTTCTCCAGCTCGTT 0.408 T PDGFRB MPD 33 192 --- --- --- --- PASS RORC 6097 broad.mit.edu 37 1 151786031 151786031 + Silent SNP C T T TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr1:151786031C>T uc001ezh.2 - 7 1107 c.999G>A c.(997-999)GAG>GAA p.E333E RORC_uc001ezg.2_Silent_p.E312E|RORC_uc010pdo.1_Silent_p.E387E|RORC_uc010pdp.1_Silent_p.E333E NM_005060 NP_005051 P51449 RORG_HUMAN RAR-related orphan receptor C isoform a 333 Ligand-binding. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1)|skin(1) 2 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) TCTTGGCGAACTCCACCACGT 0.612 9 24 --- --- --- --- PASS FCRL5 83416 broad.mit.edu 37 1 157485497 157485497 + Silent SNP G A A TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr1:157485497G>A uc001fqu.2 - 17 3060 c.2902C>T c.(2902-2904)CTG>TTG p.L968L FCRL5_uc009wsm.2_Silent_p.P964P NM_031281 NP_112571 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 968 Cytoplasmic (Potential). integral to membrane|plasma membrane receptor activity ovary(3)|breast(2)|central_nervous_system(1) 6 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) GCCAAGAACAGGGATCCGGAA 0.577 30 104 --- --- --- --- PASS CADM3 57863 broad.mit.edu 37 1 159166195 159166195 + Missense_Mutation SNP C T T TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr1:159166195C>T uc001ftl.2 + 6 875 c.733C>T c.(733-735)CGT>TGT p.R245C CADM3_uc009wsy.1_Missense_Mutation_p.R199C|CADM3_uc001ftk.2_Missense_Mutation_p.R279C NM_001127173 NP_001120645 Q8N126 CADM3_HUMAN cell adhesion molecule 3 isoform 2 245 Ig-like C2-type 2.|Extracellular (Potential). adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane protein homodimerization activity ovary(2) 2 all_hematologic(112;0.0429) TCCCCATCCTCGTGAGGGCCA 0.517 OREG0013913 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 12 --- --- --- --- PASS LY9 4063 broad.mit.edu 37 1 160784493 160784493 + Silent SNP C T T TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr1:160784493C>T uc001fwu.2 + 4 1064 c.1014C>T c.(1012-1014)TAC>TAT p.Y338Y LY9_uc010pjs.1_Silent_p.Y338Y|LY9_uc001fwv.2_Silent_p.Y338Y|LY9_uc001fww.2_Silent_p.Y338Y|LY9_uc001fwx.2_Silent_p.Y338Y|LY9_uc001fwy.1_Silent_p.Y240Y|LY9_uc001fwz.2_Translation_Start_Site NM_002348 NP_002339 Q9HBG7 LY9_HUMAN lymphocyte antigen 9 isoform a 338 Extracellular (Potential).|Ig-like V-type 2. cell adhesion|immunoglobulin mediated immune response integral to membrane ovary(1) 1 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) ACCATGCCTACGTGTGCTCAG 0.587 6 19 --- --- --- --- PASS MPZL1 9019 broad.mit.edu 37 1 167742573 167742573 + Silent SNP T C C TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr1:167742573T>C uc001geo.2 + 4 775 c.573T>C c.(571-573)TAT>TAC p.Y191Y MPZL1_uc001gen.3_Silent_p.Y191Y|MPZL1_uc001gep.2_Silent_p.Y191Y|MPZL1_uc001geq.2_Intron|MPZL1_uc009wvh.2_RNA NM_003953 NP_003944 O95297 MPZL1_HUMAN myelin protein zero-like 1 isoform a 191 Cytoplasmic (Potential). cell-cell signaling|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane protein binding|structural molecule activity ovary(2) 2 all_hematologic(923;0.215) CTGTCCTCTATAGAAGGAAAA 0.453 25 42 --- --- --- --- PASS TNN 63923 broad.mit.edu 37 1 175092743 175092743 + Missense_Mutation SNP T C C TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr1:175092743T>C uc001gkl.1 + 12 2971 c.2858T>C c.(2857-2859)GTG>GCG p.V953A NM_022093 NP_071376 Q9UQP3 TENN_HUMAN tenascin N precursor 953 Fibronectin type-III 8. 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) ATGGTGCACGTGTGGGCCCAG 0.622 19 34 --- --- --- --- PASS TNR 7143 broad.mit.edu 37 1 175334287 175334287 + Missense_Mutation SNP C G G TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr1:175334287C>G uc001gkp.1 - 10 2527 c.2446G>C c.(2446-2448)GAG>CAG p.E816Q TNR_uc009wwu.1_Missense_Mutation_p.E816Q NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 816 Fibronectin type-III 6. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) TCCATCATCTCTTCCTCCTCA 0.532 10 46 --- --- --- --- PASS PAPPA2 60676 broad.mit.edu 37 1 176738821 176738821 + Missense_Mutation SNP G T T TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr1:176738821G>T uc001gkz.2 + 16 5566 c.4402G>T c.(4402-4404)GAC>TAC p.D1468Y PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 1468 Sushi 2. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 CGGTGTTCCCGACCCGTCTTT 0.507 21 44 --- --- --- --- PASS CR2 1380 broad.mit.edu 37 1 207647145 207647145 + Splice_Site SNP G C C TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr1:207647145G>C uc001hfw.2 + 11 2073 c.1979_splice c.e11-1 p.E660_splice CR2_uc001hfv.2_Splice_Site_p.E719_splice|CR2_uc009xch.2_Splice_Site_p.E660_splice NM_001877 NP_001868 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1) 8 TGCTTCTCCAGAAACATGCCA 0.453 28 55 --- --- --- --- PASS CR1 1378 broad.mit.edu 37 1 207696963 207696963 + Silent SNP T C C TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr1:207696963T>C uc001hfy.2 + 5 635 c.495T>C c.(493-495)CCT>CCC p.P165P CR1_uc009xcl.1_Silent_p.P165P|CR1_uc001hfx.2_Silent_p.P165P|CR1_uc009xcj.1_Silent_p.P165P|CR1_uc009xck.1_Silent_p.P165P NM_000573 NP_000564 P17927 CR1_HUMAN complement receptor 1 isoform F precursor 165 Extracellular (Potential).|Sushi 3. complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity ovary(3) 3 CAGGAATTCCTTGTGGGCTAC 0.398 4 24 --- --- --- --- PASS INTS7 25896 broad.mit.edu 37 1 212180086 212180086 + Silent SNP C T T TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr1:212180086C>T uc001hiw.1 - 7 879 c.774G>A c.(772-774)CAG>CAA p.Q258Q INTS7_uc009xdb.1_Silent_p.Q258Q|INTS7_uc001hix.1_Silent_p.Q134Q|INTS7_uc001hiy.1_Silent_p.Q258Q|INTS7_uc010pta.1_Silent_p.Q209Q NM_015434 NP_056249 Q9NVH2 INT7_HUMAN integrator complex subunit 7 258 snRNA processing integrator complex protein binding 0 OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852) TCTTCAAATACTGCAACAGAA 0.294 20 62 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 215847809 215847809 + Missense_Mutation SNP C T T TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr1:215847809C>T uc001hku.1 - 63 13831 c.13444G>A c.(13444-13446)GAT>AAT p.D4482N NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 4482 Fibronectin type-III 30.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) ATGGTTCCATCCCTCCTAAGT 0.453 HNSCC(13;0.011) 30 79 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 216019303 216019303 + Missense_Mutation SNP A G G TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr1:216019303A>G uc001hku.1 - 45 9305 c.8918T>C c.(8917-8919)CTA>CCA p.L2973P NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 2973 Fibronectin type-III 16.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CAAGATTTTTAGAGAGTCGTT 0.408 HNSCC(13;0.011) 9 31 --- --- --- --- PASS RHOU 58480 broad.mit.edu 37 1 228879123 228879123 + Missense_Mutation SNP A T T TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr1:228879123A>T uc001htf.2 + 3 1034 c.413A>T c.(412-414)AAC>ATC p.N138I NM_021205 NP_067028 Q7L0Q8 RHOU_HUMAN ras homolog gene family, member U 138 regulation of small GTPase mediated signal transduction cell projection|cytosol|focal adhesion|Golgi membrane|podosome GTP binding|metal ion binding|protein binding 0 Breast(184;0.162) Prostate(94;0.183) TCCTTCCAGAACGTCAGTGAG 0.522 15 92 --- --- --- --- PASS NUP133 55746 broad.mit.edu 37 1 229596517 229596517 + Splice_Site SNP C G G TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr1:229596517C>G uc001htn.2 - 20 2778 c.2686_splice c.e20-1 p.N896_splice NM_018230 NP_060700 Q8WUM0 NU133_HUMAN nucleoporin 133kDa carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding breast(4)|skin(2)|ovary(1) 7 Breast(184;0.104)|Ovarian(103;0.249) Prostate(94;0.167) CTGAAAAATTCTACAAATAAC 0.328 3 32 --- --- --- --- PASS SLC35F3 148641 broad.mit.edu 37 1 234367239 234367239 + Silent SNP G A A TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr1:234367239G>A uc001hwa.1 + 2 381 c.153G>A c.(151-153)GCG>GCA p.A51A SLC35F3_uc001hvy.1_Silent_p.A120A NM_173508 NP_775779 Q8IY50 S35F3_HUMAN solute carrier family 35, member F3 51 transport integral to membrane ovary(2) 2 Ovarian(103;0.0454) all_cancers(173;0.145)|Prostate(94;0.0885) OV - Ovarian serous cystadenocarcinoma(106;0.00531) GCGGGAGAGCGAGTCGCCGCT 0.741 6 19 --- --- --- --- PASS NLRP3 114548 broad.mit.edu 37 1 247587806 247587806 + Missense_Mutation SNP C A A rs121908149 TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr1:247587806C>A uc001icr.2 + 5 1199 c.1061C>A c.(1060-1062)GCC>GAC p.A354D NLRP3_uc001ics.2_Missense_Mutation_p.A354D|NLRP3_uc001icu.2_Missense_Mutation_p.A354D|NLRP3_uc001icw.2_Missense_Mutation_p.A354D|NLRP3_uc001icv.2_Missense_Mutation_p.A354D|NLRP3_uc010pyw.1_Missense_Mutation_p.A352D|NLRP3_uc001ict.1_Missense_Mutation_p.A352D NM_001079821 NP_001073289 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 isoform a 354 NACHT. A -> V (in MWS). detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1) 26 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) AGACCTGTGGCCCTGGAGAAA 0.557 19 40 --- --- --- --- PASS OR14A16 284532 broad.mit.edu 37 1 247978807 247978807 + Silent SNP C A A TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr1:247978807C>A uc001idm.1 - 1 225 c.225G>T c.(223-225)ACG>ACT p.T75T NM_001001966 NP_001001966 Q8NHC5 O14AG_HUMAN olfactory receptor, family 14, subfamily A, 75 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 ATTTGGGAGCCGTGACTGAAA 0.418 7 28 --- --- --- --- PASS TPO 7173 broad.mit.edu 37 2 1488614 1488614 + Missense_Mutation SNP T G G rs114401108 byFrequency TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr2:1488614T>G uc002qww.2 + 9 1676 c.1585T>G c.(1585-1587)TTA>GTA p.L529V TPO_uc010ewj.2_RNA|TPO_uc002qwu.2_Missense_Mutation_p.L529V|TPO_uc002qwr.2_Missense_Mutation_p.L529V|TPO_uc002qwx.2_Missense_Mutation_p.L529V|TPO_uc010yio.1_Missense_Mutation_p.L356V|TPO_uc010yip.1_Missense_Mutation_p.L529V|TPO_uc002qwy.1_5'UTR|TPO_uc002qwz.2_RNA NM_000547 NP_000538 P07202 PERT_HUMAN thyroid peroxidase isoform a 529 Extracellular (Potential). cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1) 20 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) CCCATGGACATTACTCCGTGG 0.507 8 32 --- --- --- --- PASS DNMT3A 1788 broad.mit.edu 37 2 25464474 25464474 + Missense_Mutation SNP T C C TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr2:25464474T>C uc002rgc.2 - 17 2296 c.2039A>G c.(2038-2040)AAG>AGG p.K680R DNMT3A_uc002rgd.2_Missense_Mutation_p.K680R|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rgb.2_Missense_Mutation_p.K491R NM_022552 NP_072046 Q9Y6K1 DNM3A_HUMAN DNA cytosine methyltransferase 3 alpha isoform 680 regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3) 140 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTACATGATCTTCCCCTGGTG 0.617 Mis|F|N|S AML 7 19 --- --- --- --- PASS BCL11A 53335 broad.mit.edu 37 2 60687659 60687659 + Silent SNP C T T TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr2:60687659C>T uc002sae.1 - 4 2616 c.2388G>A c.(2386-2388)GGG>GGA p.G796G BCL11A_uc002sab.2_Intron|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Intron|BCL11A_uc010ypj.1_Intron|BCL11A_uc002sad.1_Silent_p.G644G|BCL11A_uc002saf.1_Silent_p.G762G NM_022893 NP_075044 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A isoform 1 796 negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|cytoplasm|nucleus|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding central_nervous_system(6)|breast(3)|ovary(2)|skin(2) 13 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) AAACGTCCTTCCCCACCTGGC 0.478 T IGH@ B-CLL 16 185 --- --- --- --- PASS DPP10 57628 broad.mit.edu 37 2 116534843 116534843 + Missense_Mutation SNP G C C TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr2:116534843G>C uc002tla.1 + 14 1738 c.1281G>C c.(1279-1281)AAG>AAC p.K427N DPP10_uc002tlb.1_Missense_Mutation_p.K377N|DPP10_uc002tlc.1_Missense_Mutation_p.K423N|DPP10_uc002tle.2_Missense_Mutation_p.K431N|DPP10_uc002tlf.1_Missense_Mutation_p.K420N NM_020868 NP_065919 Q8N608 DPP10_HUMAN dipeptidyl peptidase 10 isoform long 427 Extracellular (Potential). proteolysis integral to membrane|membrane fraction serine-type peptidase activity ovary(5)|large_intestine(2)|skin(2)|breast(1) 10 AAGTGATAAAGATCTTGGCAT 0.358 9 23 --- --- --- --- PASS PTPN4 5775 broad.mit.edu 37 2 120714483 120714483 + Missense_Mutation SNP A G G TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr2:120714483A>G uc002tmf.1 + 21 2815 c.2044A>G c.(2044-2046)AAA>GAA p.K682E PTPN4_uc010flj.1_Missense_Mutation_p.K395E|PTPN4_uc010yyr.1_Missense_Mutation_p.K315E NM_002830 NP_002821 P29074 PTN4_HUMAN protein tyrosine phosphatase, non-receptor type 682 Tyrosine-protein phosphatase. cytoplasm|cytoskeleton|internal side of plasma membrane cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity ovary(2) 2 Alendronate(DB00630) GAATATTTCCAAAAATAGATA 0.269 21 58 --- --- --- --- PASS CNTNAP5 129684 broad.mit.edu 37 2 125660468 125660468 + Missense_Mutation SNP G T T TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr2:125660468G>T uc002tno.2 + 22 3807 c.3443G>T c.(3442-3444)GGT>GTT p.G1148V CNTNAP5_uc010flu.2_Missense_Mutation_p.G1149V NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 1148 Extracellular (Potential).|Laminin G-like 4. cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) GAGAATCTTGGTTTGGATTCT 0.403 3 13 --- --- --- --- PASS NCKAP5 344148 broad.mit.edu 37 2 133539728 133539728 + Silent SNP T C C TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr2:133539728T>C uc002ttp.2 - 14 5030 c.4656A>G c.(4654-4656)AAA>AAG p.K1552K NCKAP5_uc002ttq.2_Intron NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 1552 protein binding 0 TTTTCTCTTTTTTTCTTTCTG 0.383 15 60 --- --- --- --- PASS BAZ2B 29994 broad.mit.edu 37 2 160255379 160255379 + Silent SNP C T T TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr2:160255379C>T uc002uao.2 - 18 3277 c.2925G>A c.(2923-2925)GCG>GCA p.A975A BAZ2B_uc002uap.2_Silent_p.A939A|BAZ2B_uc002uaq.1_Silent_p.A805A NM_013450 NP_038478 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 975 Lys-rich.|Potential. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(3)|skin(1) 4 TGGCATTTGCCGCTTCTTCCT 0.343 12 32 --- --- --- --- PASS SLC4A10 57282 broad.mit.edu 37 2 162735785 162735785 + Missense_Mutation SNP C A A TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr2:162735785C>A uc002ubx.3 + 9 1277 c.1093C>A c.(1093-1095)CCA>ACA p.P365T SLC4A10_uc010fpa.1_Missense_Mutation_p.P377T|SLC4A10_uc010zcr.1_RNA|SLC4A10_uc002uby.3_Missense_Mutation_p.P335T|SLC4A10_uc010zcs.1_Missense_Mutation_p.P346T NM_022058 NP_071341 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate 365 Cytoplasmic (Potential). bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity ovary(2)|lung(2)|pancreas(1) 5 GGCTGAAGTCCCAATCCCAAC 0.388 17 80 --- --- --- --- PASS SCN2A 6326 broad.mit.edu 37 2 166201106 166201106 + Silent SNP T C C TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr2:166201106T>C uc002udc.2 + 16 2894 c.2604T>C c.(2602-2604)AAT>AAC p.N868N SCN2A_uc002udd.2_Silent_p.N868N|SCN2A_uc002ude.2_Silent_p.N868N NM_001040142 NP_001035232 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha 868 II. myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|breast(1)|pancreas(1) 8 Lamotrigine(DB00555) CAACTCTAAATATGCTAATTA 0.408 18 39 --- --- --- --- PASS TLK1 9874 broad.mit.edu 37 2 171939356 171939356 + Missense_Mutation SNP T C C TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr2:171939356T>C uc002ugn.2 - 3 737 c.265A>G c.(265-267)ACA>GCA p.T89A TLK1_uc002ugo.2_Missense_Mutation_p.T89A|TLK1_uc002ugp.2_Missense_Mutation_p.T41A|TLK1_uc002ugq.2_RNA NM_012290 NP_036422 Q9UKI8 TLK1_HUMAN tousled-like kinase 1 isoform 1 89 cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus nucleus ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(1) 1 TCGTTATTTGTTGAGGCCTGT 0.279 19 58 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179402307 179402307 + Silent SNP A G G TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr2:179402307A>G uc010zfg.1 - 304 92147 c.91923T>C c.(91921-91923)GCT>GCC p.A30641A uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.A24336A|TTN_uc010zfi.1_Silent_p.A24269A|TTN_uc010zfj.1_Silent_p.A24144A NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 31568 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGGAACCCACAGCTCCATAAT 0.453 6 28 --- --- --- --- PASS DNAH7 56171 broad.mit.edu 37 2 196709795 196709795 + Missense_Mutation SNP G C C TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr2:196709795G>C uc002utj.3 - 47 8977 c.8876C>G c.(8875-8877)ACA>AGA p.T2959R NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2959 AAA 5 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 AGTTCGAATTGTCACAGCTTC 0.373 6 18 --- --- --- --- PASS ZDBF2 57683 broad.mit.edu 37 2 207170724 207170724 + Missense_Mutation SNP G C C TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr2:207170724G>C uc002vbp.2 + 5 1722 c.1472G>C c.(1471-1473)AGT>ACT p.S491T NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 491 nucleic acid binding|zinc ion binding ovary(3) 3 GAATCTAGTAGTTCTGAAACG 0.393 10 37 --- --- --- --- PASS VWC2L 402117 broad.mit.edu 37 2 215440509 215440509 + Missense_Mutation SNP T C C TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr2:215440509T>C uc002vet.2 + 4 764 c.634T>C c.(634-636)TCG>CCG p.S212P VWC2L_uc010zjl.1_3'UTR NM_001080500 NP_001073969 B2RUY7 VWC2L_HUMAN von Willebrand factor C domain-containing 212 extracellular region 0 TGCTCAGTGTTCGAAACGTGA 0.473 33 88 --- --- --- --- PASS PTPRN 5798 broad.mit.edu 37 2 220167470 220167470 + Missense_Mutation SNP C T T TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr2:220167470C>T uc002vkz.2 - 5 556 c.467G>A c.(466-468)CGG>CAG p.R156Q PTPRN_uc010zlc.1_Missense_Mutation_p.R66Q|PTPRN_uc002vla.2_Missense_Mutation_p.R156Q NM_002846 NP_002837 Q16849 PTPRN_HUMAN protein tyrosine phosphatase, receptor type, N 156 Extracellular (Potential). response to reactive oxygen species integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity ovary(2)|lung(1)|skin(1) 4 Renal(207;0.0474) Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875) TTGTGGAAGCCGATGCTGGGC 0.632 20 36 --- --- --- --- PASS COL4A4 1286 broad.mit.edu 37 2 227886820 227886820 + Missense_Mutation SNP A G G TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr2:227886820A>G uc010zlt.1 - 43 4814 c.4160T>C c.(4159-4161)ATG>ACG p.M1387T NM_000092 NP_000083 P53420 CO4A4_HUMAN alpha 4 type IV collagen precursor 1387 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1) 11 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) TGGTCCTCTCATGCCTGGCGC 0.547 46 119 --- --- --- --- PASS SP100 6672 broad.mit.edu 37 2 231405712 231405712 + Splice_Site SNP G T T TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr2:231405712G>T uc002vqu.1 + 26 2472 c.2331_splice c.e26+1 p.L777_splice SP100_uc010fxp.1_Splice_Site_p.L95_splice NM_001080391 NP_001073860 P23497 SP100_HUMAN nuclear antigen Sp100 isoform 1 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon cytoplasm|nuclear periphery|nucleolus|PML body chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding ovary(4)|central_nervous_system(1) 5 Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) GGAGCAGTTGGTGAGTAAAAA 0.478 14 44 --- --- --- --- PASS NDUFA10 4705 broad.mit.edu 37 2 240929490 240929490 + Splice_Site SNP C T T TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr2:240929490C>T uc002vyn.2 - 9 1079 c.999_splice c.e9+1 p.E333_splice NDUFA10_uc010fzc.1_Splice_Site_p.E363_splice NM_004544 NP_004535 O95299 NDUAA_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport mitochondrial matrix|mitochondrial respiratory chain complex I ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor central_nervous_system(1) 1 all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202) NADH(DB00157) CACAGTCTTACCTCTCTGAAC 0.473 12 28 --- --- --- --- PASS AGXT 189 broad.mit.edu 37 2 241817438 241817438 + Splice_Site SNP G T T TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr2:241817438G>T uc002waa.3 + 10 1064 c.943_splice c.e10-1 p.A315_splice AGXT_uc002wab.3_Splice_Site_p.A193_splice NM_000030 NP_000021 P21549 SPYA_HUMAN alanine-glyoxylate aminotransferase glyoxylate metabolic process|protein targeting to peroxisome mitochondrial matrix|peroxisomal matrix alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity 0 all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15) Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) CCCTCCTGCAGGCGCTCCGGC 0.602 6 23 --- --- --- --- PASS SCN10A 6336 broad.mit.edu 37 3 38739960 38739960 + Missense_Mutation SNP A C C TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr3:38739960A>C uc003ciq.2 - 27 4751 c.4751T>G c.(4750-4752)CTC>CGC p.L1584R NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha 1584 IV.|Helical; Voltage-sensor; Name=S4 of repeat IV; (Potential). sensory perception voltage-gated sodium channel complex ovary(5)|skin(3)|large_intestine(1)|kidney(1) 10 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) GATCAGTCTGAGGATGCGGCC 0.522 20 23 --- --- --- --- PASS ZNF654 55279 broad.mit.edu 37 3 88189354 88189354 + Missense_Mutation SNP G T T TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr3:88189354G>T uc003dqv.2 + 1 1093 c.894G>T c.(892-894)CAG>CAT p.Q298H CGGBP1_uc003dqu.2_Intron NM_018293 NP_060763 Q8IZM8 ZN654_HUMAN zinc finger protein 654 298 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Lung NSC(201;0.0283) UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661) TTCAGGCTCAGTGTAGTTTTC 0.403 28 46 --- --- --- --- PASS HHLA2 11148 broad.mit.edu 37 3 108076898 108076898 + Missense_Mutation SNP G C C TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr3:108076898G>C uc003dwy.3 + 6 1060 c.893G>C c.(892-894)AGT>ACT p.S298T HHLA2_uc011bhl.1_Missense_Mutation_p.S234T|HHLA2_uc010hpu.2_Missense_Mutation_p.S298T|HHLA2_uc003dwz.2_Missense_Mutation_p.S298T NM_007072 NP_009003 Q9UM44 HHLA2_HUMAN HERV-H LTR-associating 2 precursor 298 Ig-like V-type 2. integral to membrane ovary(1) 1 ATAAACCAGAGTGACTTCTCT 0.373 23 90 --- --- --- --- PASS TRAT1 50852 broad.mit.edu 37 3 108572698 108572698 + Missense_Mutation SNP C A A TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr3:108572698C>A uc003dxi.1 + 6 679 c.535C>A c.(535-537)CGT>AGT p.R179S TRAT1_uc010hpx.1_Missense_Mutation_p.R142S NM_016388 NP_057472 Q6PIZ9 TRAT1_HUMAN T-cell receptor interacting molecule 179 Cytoplasmic (Potential). cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway integral to plasma membrane|T cell receptor complex phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity skin(1) 1 TGGATTGATCCGTGCTAAGAG 0.433 20 87 --- --- --- --- PASS SIDT1 54847 broad.mit.edu 37 3 113299545 113299545 + Missense_Mutation SNP C G G TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr3:113299545C>G uc003eak.2 + 5 1303 c.652C>G c.(652-654)CAG>GAG p.Q218E SIDT1_uc011bif.1_RNA|SIDT1_uc003eaj.1_Missense_Mutation_p.Q218E|SIDT1_uc011big.1_5'UTR NM_017699 NP_060169 Q9NXL6 SIDT1_HUMAN SID1 transmembrane family, member 1 precursor 218 Extracellular (Potential). integral to membrane ovary(3)|pancreas(1)|skin(1) 5 TGTCTCAGTCCAGAATATCAT 0.383 24 84 --- --- --- --- PASS POLQ 10721 broad.mit.edu 37 3 121206279 121206279 + Missense_Mutation SNP G C C TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr3:121206279G>C uc003eee.3 - 16 5628 c.5499C>G c.(5497-5499)GAC>GAG p.D1833E POLQ_uc003eed.2_Missense_Mutation_p.D1005E NM_199420 NP_955452 O75417 DPOLQ_HUMAN DNA polymerase theta 1833 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1) 11 GBM - Glioblastoma multiforme(114;0.0915) AAAGATTTTGGTCACTTGCTA 0.383 DNA_polymerases_(catalytic_subunits) 25 92 --- --- --- --- PASS PLSCR4 57088 broad.mit.edu 37 3 145924389 145924389 + Missense_Mutation SNP T A A TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr3:145924389T>A uc010huy.2 - 4 607 c.278A>T c.(277-279)CAG>CTG p.Q93L PLSCR4_uc010huz.2_Missense_Mutation_p.Q93L|PLSCR4_uc003evt.3_Missense_Mutation_p.Q93L|PLSCR4_uc010hva.2_Missense_Mutation_p.Q93L|PLSCR4_uc003evu.3_Missense_Mutation_p.Q78L NM_001128305 NP_001121777 Q9NRQ2 PLS4_HUMAN phospholipid scramblase 4 isoform a 93 Cytoplasmic (By similarity). blood coagulation|phospholipid scrambling integral to membrane calcium ion binding|phospholipid scramblase activity|SH3 domain binding 0 TGGAACAGACTGATTTGGCAT 0.468 16 82 --- --- --- --- PASS MME 4311 broad.mit.edu 37 3 154857994 154857994 + Silent SNP T C C TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr3:154857994T>C uc010hvr.1 + 10 1081 c.870T>C c.(868-870)CCT>CCC p.P290P MME_uc003fab.1_Silent_p.P290P|MME_uc003fac.1_Silent_p.P290P|MME_uc003fad.1_Silent_p.P290P|MME_uc003fae.1_Silent_p.P290P NM_007289 NP_009220 P08473 NEP_HUMAN membrane metallo-endopeptidase 290 Extracellular (Potential). cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding ovary(2)|central_nervous_system(1) 3 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) CGGCTAAACCTGAAGATCGAA 0.308 3 36 --- --- --- --- PASS ZBBX 79740 broad.mit.edu 37 3 167035342 167035342 + Missense_Mutation SNP G T T TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr3:167035342G>T uc003fep.2 - 13 1350 c.1027C>A c.(1027-1029)CCA>ACA p.P343T ZBBX_uc011bpc.1_Missense_Mutation_p.P343T|ZBBX_uc003feq.2_Missense_Mutation_p.P314T NM_024687 NP_078963 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 343 intracellular zinc ion binding ovary(2) 2 TGTGGATGTGGGAACGTATCT 0.338 15 72 --- --- --- --- PASS FNDC3B 64778 broad.mit.edu 37 3 172080476 172080476 + Missense_Mutation SNP T C C TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr3:172080476T>C uc003fhy.2 + 23 3021 c.2849T>C c.(2848-2850)ATT>ACT p.I950T FNDC3B_uc003fhz.3_Missense_Mutation_p.I950T NM_022763 NP_073600 Q53EP0 FND3B_HUMAN fibronectin type III domain containing 3B 950 Fibronectin type-III 7. endoplasmic reticulum|integral to membrane ovary(2)|breast(1) 3 all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GBM - Glioblastoma multiforme(1;0.0494) AGTCAGTTCATTAAAGCAAAA 0.433 36 49 --- --- --- --- PASS EIF4G1 1981 broad.mit.edu 37 3 184043326 184043326 + Missense_Mutation SNP A G G TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr3:184043326A>G uc003fnp.2 + 20 3218 c.3020A>G c.(3019-3021)AAG>AGG p.K1007R EIF4G1_uc003fnt.2_Missense_Mutation_p.K718R|EIF4G1_uc003fnq.2_Missense_Mutation_p.K920R|EIF4G1_uc003fnr.2_Missense_Mutation_p.K843R|EIF4G1_uc010hxx.2_Missense_Mutation_p.K1014R|EIF4G1_uc003fns.2_Missense_Mutation_p.K967R|EIF4G1_uc010hxy.2_Missense_Mutation_p.K1014R|EIF4G1_uc003fnv.3_Missense_Mutation_p.K1008R|EIF4G1_uc003fnu.3_Missense_Mutation_p.K1007R|EIF4G1_uc003fnw.2_Missense_Mutation_p.K1014R|EIF4G1_uc003fnx.2_Missense_Mutation_p.K812R|EIF4G1_uc003fny.3_Missense_Mutation_p.K811R|SNORD66_uc003fnz.2_5'Flank NM_198241 NP_937884 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 1007 eIF3/EIF4A-binding. insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CAGATCCATAAGGAGGCTGAG 0.592 34 113 --- --- --- --- PASS BOD1L 259282 broad.mit.edu 37 4 13602759 13602759 + Missense_Mutation SNP G A A TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr4:13602759G>A uc003gmz.1 - 10 5882 c.5765C>T c.(5764-5766)GCC>GTC p.A1922V BOD1L_uc010idr.1_Missense_Mutation_p.A1259V NM_148894 NP_683692 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1922 DNA binding ovary(5)|breast(1) 6 ATTCATGATGGCAGCTCCAGC 0.443 16 40 --- --- --- --- PASS POLR2B 5431 broad.mit.edu 37 4 57897088 57897088 + Nonsense_Mutation SNP C G G TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr4:57897088C>G uc003hcl.1 + 25 3502 c.3459C>G c.(3457-3459)TAC>TAG p.Y1153* POLR2B_uc011cae.1_Nonsense_Mutation_p.Y1146*|POLR2B_uc011caf.1_Nonsense_Mutation_p.Y1078*|POLR2B_uc003hcm.1_Nonsense_Mutation_p.Y646* NM_000938 NP_000929 P30876 RPB2_HUMAN DNA directed RNA polymerase II polypeptide B 1153 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding ovary(2) 2 Glioma(25;0.08)|all_neural(26;0.181) GAATGCCTTACGCATGCAAAC 0.353 12 59 --- --- --- --- PASS TMPRSS11F 389208 broad.mit.edu 37 4 68930480 68930480 + Missense_Mutation SNP C A A TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr4:68930480C>A uc003hdt.1 - 8 987 c.938G>T c.(937-939)TGC>TTC p.C313F LOC550112_uc003hdl.3_Intron|uc011cak.1_Intron|SYT14L_uc010ihn.2_5'Flank NM_207407 NP_997290 Q6ZWK6 TM11F_HUMAN transmembrane protease, serine 11F 313 Peptidase S1.|Extracellular (Potential). proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity ovary(1) 1 GTCTGGGAGGCAAACTCTCTG 0.378 3 45 --- --- --- --- PASS ALB 213 broad.mit.edu 37 4 74270121 74270121 + Missense_Mutation SNP C G G TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr4:74270121C>G uc003hgs.3 + 1 150 c.77C>G c.(76-78)GCA>GGA p.A26G ALB_uc003hgw.3_Missense_Mutation_p.A26G|ALB_uc011cbe.1_5'UTR|ALB_uc003hgt.3_Missense_Mutation_p.A26G|ALB_uc010iii.2_Missense_Mutation_p.A26G|ALB_uc003hgu.3_5'UTR|ALB_uc003hgv.3_5'UTR|ALB_uc011cbf.1_5'Flank NM_000477 NP_000468 P02768 ALBU_HUMAN albumin preproprotein 26 Albumin 1. bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport extracellular space|platelet alpha granule lumen|protein complex antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding ovary(3)|skin(3) 6 Breast(15;0.00102) Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin(DB00096)|Serum albumin iodonated(DB00064)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137) CGTCGAGATGCACGTAAGAAA 0.363 7 33 --- --- --- --- PASS HPSE 10855 broad.mit.edu 37 4 84227463 84227463 + Missense_Mutation SNP C G G TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr4:84227463C>G uc003hoj.3 - 9 1198 c.1099G>C c.(1099-1101)GAT>CAT p.D367H HPSE_uc010ika.2_Missense_Mutation_p.D309H|HPSE_uc011ccq.1_RNA|HPSE_uc011ccr.1_Intron|HPSE_uc011ccs.1_Missense_Mutation_p.D110H|HPSE_uc011cct.1_Intron|HPSE_uc003hok.3_Missense_Mutation_p.D367H NM_001098540 NP_001092010 Q9Y251 HPSE_HUMAN heparanase precursor 367 D->A: Strong decrease in heparanase activity. carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process extracellular region|lysosomal membrane|nucleus beta-glucuronidase activity|cation binding ovary(1) 1 Hepatocellular(203;0.114) COAD - Colon adenocarcinoma(81;0.141) Heparin(DB01109) CCCAATTTATCCAGCCACCTG 0.408 16 65 --- --- --- --- PASS WDFY3 23001 broad.mit.edu 37 4 85638087 85638087 + Missense_Mutation SNP C A A TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr4:85638087C>A uc003hpd.2 - 49 8245 c.7837G>T c.(7837-7839)GAT>TAT p.D2613Y WDFY3_uc003hpe.1_Missense_Mutation_p.D224Y NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 isoform 2613 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) TCCTTGATATCTTCATATGCA 0.378 22 57 --- --- --- --- PASS FAM13A 10144 broad.mit.edu 37 4 89679910 89679910 + Missense_Mutation SNP C A A TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr4:89679910C>A uc003hse.1 - 14 1929 c.1721G>T c.(1720-1722)TGG>TTG p.W574L FAM13A_uc003hsa.1_Missense_Mutation_p.W45L|FAM13A_uc003hsb.1_Missense_Mutation_p.W248L|FAM13A_uc003hsd.1_Missense_Mutation_p.W248L|FAM13A_uc003hsc.1_Missense_Mutation_p.W234L|FAM13A_uc011cdq.1_Missense_Mutation_p.W220L|FAM13A_uc003hsf.1_Missense_Mutation_p.W160L|FAM13A_uc003hsg.1_Missense_Mutation_p.W45L|FAM13A_uc010ikr.1_Missense_Mutation_p.W70L NM_014883 NP_055698 O94988 FA13A_HUMAN family with sequence similarity 13, member A1 574 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(1)|liver(1) 2 CCTACCTTCCCAGTTCTTTTC 0.448 13 39 --- --- --- --- PASS GRID2 2895 broad.mit.edu 37 4 94436380 94436380 + Missense_Mutation SNP C A A TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr4:94436380C>A uc011cdt.1 + 13 2269 c.2011C>A c.(2011-2013)CTT>ATT p.L671I GRID2_uc011cdu.1_Missense_Mutation_p.L576I NM_001510 NP_001501 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 671 Extracellular (Potential). glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(3)|skin(2)|large_intestine(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) TCTCCAGGACCTTTCCAAGCA 0.418 5 10 --- --- --- --- PASS RAP1GDS1 5910 broad.mit.edu 37 4 99342542 99342542 + Silent SNP A T T TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr4:99342542A>T uc003htx.3 + 12 1627 c.1437A>T c.(1435-1437)TCA>TCT p.S479S RAP1GDS1_uc003htw.3_Silent_p.S480S|RAP1GDS1_uc003htv.3_Silent_p.S479S|RAP1GDS1_uc003htz.3_Silent_p.S430S|RAP1GDS1_uc003hty.3_Silent_p.S431S|RAP1GDS1_uc003hua.3_Silent_p.S388S NM_001100427 NP_001093897 P52306 GDS1_HUMAN RAP1, GTP-GDP dissociation stimulator 1 isoform 479 ARM 5. binding|GTPase activator activity ovary(1)|lung(1)|breast(1) 3 OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576) ACAGTAAATCAAAAGTAAGTT 0.418 T NUP98 T-ALL 3 22 --- --- --- --- PASS AIMP1 9255 broad.mit.edu 37 4 107252864 107252864 + Missense_Mutation SNP G C C TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr4:107252864G>C uc011cfg.1 + 5 479 c.427G>C c.(427-429)GGA>CGA p.G143R AIMP1_uc003hyg.2_Missense_Mutation_p.G143R|AIMP1_uc003hyh.2_Missense_Mutation_p.G167R NM_001142415 NP_001135887 Q12904 AIMP1_HUMAN small inducible cytokine subfamily E, member 1 143 Interaction with HSP90B1 (By similarity).|Required for endothelial cell migration. angiogenesis|apoptosis|cell adhesion|cell-cell signaling|chemotaxis|glucose metabolic process|inflammatory response|leukocyte migration|negative regulation of endothelial cell proliferation|signal transduction|tRNA aminoacylation for protein translation aminoacyl-tRNA synthetase multienzyme complex|cytosol|endoplasmic reticulum|extracellular space|Golgi apparatus|nucleus|transport vesicle cell surface binding|cytokine activity|protein homodimerization activity|tRNA binding 0 ATCAATAGCTGGAAGTGCCGA 0.368 31 43 --- --- --- --- PASS INTU 27152 broad.mit.edu 37 4 128584544 128584544 + Silent SNP G T T TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr4:128584544G>T uc003ifk.1 + 4 847 c.777G>T c.(775-777)CTG>CTT p.L259L INTU_uc011cgq.1_RNA NM_015693 NP_056508 Q9ULD6 PDZD6_HUMAN PDZ domain containing 6 259 PDZ. ovary(1) 1 AGGTGAAACTGACATTTGAAA 0.393 3 10 --- --- --- --- PASS CPE 1363 broad.mit.edu 37 4 166300542 166300542 + Missense_Mutation SNP C A A TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr4:166300542C>A uc003irg.3 + 1 446 c.169C>A c.(169-171)CCC>ACC p.P57T NM_001873 NP_001864 P16870 CBPE_HUMAN carboxypeptidase E preproprotein 57 cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process extracellular region|nucleus|plasma membrane metallocarboxypeptidase activity|protein binding|zinc ion binding large_intestine(1)|ovary(1)|skin(1) 3 all_hematologic(180;0.221) Prostate(90;0.0962)|Melanoma(52;0.18) GBM - Glioblastoma multiforme(119;0.137) Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CCACCGCTACCCCGAGCTGCG 0.617 6 7 --- --- --- --- PASS ADAM29 11086 broad.mit.edu 37 4 175896968 175896968 + Missense_Mutation SNP A T T TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr4:175896968A>T uc003iuc.2 + 5 962 c.292A>T c.(292-294)AAT>TAT p.N98Y ADAM29_uc003iud.2_Missense_Mutation_p.N98Y|ADAM29_uc010irr.2_Missense_Mutation_p.N98Y|ADAM29_uc011cki.1_Missense_Mutation_p.N98Y NM_014269 NP_055084 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 preproprotein 98 proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1) 16 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) ATTTGTCCAGAATAACTGCTA 0.443 13 35 --- --- --- --- PASS ODZ3 55714 broad.mit.edu 37 4 183714971 183714971 + Missense_Mutation SNP T A A TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr4:183714971T>A uc003ivd.1 + 25 7183 c.7146T>A c.(7144-7146)TTT>TTA p.F2382L NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN odz, odd Oz/ten-m homolog 3 2382 Extracellular (Potential). signal transduction integral to membrane 0 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) CAGCTCCTTTTAACTTGTACA 0.413 10 18 --- --- --- --- PASS FAT1 2195 broad.mit.edu 37 4 187542483 187542483 + Missense_Mutation SNP C A A TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr4:187542483C>A uc003izf.2 - 10 5445 c.5257G>T c.(5257-5259)GTT>TTT p.V1753F NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 1753 Extracellular (Potential).|Cadherin 15. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 TGCAAGTGAACTAGAACCGTT 0.423 HNSCC(5;0.00058) 14 48 --- --- --- --- PASS TRIP13 9319 broad.mit.edu 37 5 912047 912047 + Missense_Mutation SNP T A A TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr5:912047T>A uc003jbr.2 + 10 1066 c.956T>A c.(955-957)ATT>AAT p.I319N NM_004237 NP_004228 Q15645 PCH2_HUMAN thyroid hormone receptor interactor 13 319 double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity 0 Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165) AAGCAGTACATTGGGCCACCC 0.458 21 121 --- --- --- --- PASS TERT 7015 broad.mit.edu 37 5 1254487 1254487 + Missense_Mutation SNP C A A TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr5:1254487C>A uc003jcb.1 - 15 3349 c.3291G>T c.(3289-3291)AGG>AGT p.R1097S TERT_uc003jbz.1_Missense_Mutation_p.R293S|TERT_uc003jca.1_Missense_Mutation_p.R1085S|TERT_uc003jcc.1_Missense_Mutation_p.R1034S|TERT_uc003jcd.1_RNA|TERT_uc003jce.1_RNA NM_198253 NP_937983 O14746 TERT_HUMAN telomerase reverse transcriptase isoform 1 1097 CTE. anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase cytoplasm|nucleolus|PML body|telomerase holoenzyme complex protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity lung(7)|ovary(2)|central_nervous_system(2)|skin(1) 12 all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10) Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) ACTTGCCTGTCCTGAGTGACC 0.647 TERT_Mutation-Associated_Haematological_Disorders|Congenital_Dyskeratosis|Pulmonary_Fibrosis_Idiopathic 12 78 --- --- --- --- PASS ADAMTS16 170690 broad.mit.edu 37 5 5235235 5235235 + Silent SNP C T T TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr5:5235235C>T uc003jdl.2 + 13 2097 c.1959C>T c.(1957-1959)GCC>GCT p.A653A ADAMTS16_uc003jdk.1_Silent_p.A653A|ADAMTS16_uc010itk.1_RNA NM_139056 NP_620687 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 653 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.A653A(2) ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1) 8 CTCAGTGTGCCGAGCACAACA 0.522 14 70 --- --- --- --- PASS DNAH5 1767 broad.mit.edu 37 5 13870880 13870880 + Missense_Mutation SNP A G G TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr5:13870880A>G uc003jfd.2 - 24 3872 c.3830T>C c.(3829-3831)ATT>ACT p.I1277T NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1277 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) AGTTACCTCAATAGGTCCTAC 0.368 Kartagener_syndrome 19 54 --- --- --- --- PASS FAM105B 90268 broad.mit.edu 37 5 14693114 14693114 + Missense_Mutation SNP A T T TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr5:14693114A>T uc003jfk.2 + 7 1168 c.1016A>T c.(1015-1017)CAC>CTC p.H339L NM_138348 NP_612357 Q96BN8 F105B_HUMAN hypothetical protein LOC90268 339 ovary(2) 2 Lung NSC(4;0.00696) GACGATCGGCACTATAACATC 0.572 6 30 --- --- --- --- PASS CDH18 1016 broad.mit.edu 37 5 19544051 19544051 + Silent SNP G T T TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr5:19544051G>T uc003jgc.2 - 8 1694 c.1317C>A c.(1315-1317)ACC>ACA p.T439T CDH18_uc003jgd.2_Silent_p.T439T|CDH18_uc011cnm.1_Silent_p.T439T NM_004934 NP_004925 Q13634 CAD18_HUMAN cadherin 18, type 2 preproprotein 439 Extracellular (Potential).|Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|large_intestine(1)|skin(1) 7 Lung NSC(1;0.00734)|all_lung(1;0.0197) TAGTCCTAATGGTCCCAGTAT 0.348 17 86 --- --- --- --- PASS EGFLAM 133584 broad.mit.edu 37 5 38406999 38406999 + Missense_Mutation SNP T A A TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr5:38406999T>A uc003jlc.1 + 8 1222 c.898T>A c.(898-900)TCT>ACT p.S300T EGFLAM_uc003jlb.1_Missense_Mutation_p.S300T|EGFLAM_uc003jle.1_Missense_Mutation_p.S66T|EGFLAM_uc003jlf.1_Intron NM_152403 NP_689616 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G 300 cell junction|proteinaceous extracellular matrix|synapse pancreas(3)|skin(3)|ovary(1) 7 all_lung(31;0.000385) GATGTCTATATCTAACCCAAA 0.478 18 114 --- --- --- --- PASS PAIP1 10605 broad.mit.edu 37 5 43543192 43543192 + Silent SNP A G G TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr5:43543192A>G uc003job.2 - 4 895 c.648T>C c.(646-648)TAT>TAC p.Y216Y PAIP1_uc003joa.2_Silent_p.Y137Y|PAIP1_uc010ivp.2_Silent_p.Y137Y|PAIP1_uc010ivo.2_RNA|PAIP1_uc003joc.2_Silent_p.Y104Y NM_006451 NP_006442 Q9H074 PAIP1_HUMAN poly(A) binding protein interacting protein 1 216 MIF4G. mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation cytosol protein binding|RNA binding|translation activator activity ovary(1) 1 Lung NSC(6;2.07e-05) GAGCTCCCATATAAGAGAAAT 0.373 12 58 --- --- --- --- PASS HCN1 348980 broad.mit.edu 37 5 45267348 45267348 + Nonsense_Mutation SNP G T T rs150863293 byFrequency TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr5:45267348G>T uc003jok.2 - 7 1651 c.1626C>A c.(1624-1626)TGC>TGA p.C542* NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 542 cAMP.|Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 TGGTCAGCAGGCAAATCTCTA 0.398 11 71 --- --- --- --- PASS IPO11 51194 broad.mit.edu 37 5 61923060 61923060 + Missense_Mutation SNP T C C TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr5:61923060T>C uc003jtc.2 + 30 3033 c.2843T>C c.(2842-2844)CTA>CCA p.L948P IPO11_uc011cqr.1_Missense_Mutation_p.L988P|IPO11_uc010iwr.2_3'UTR|IPO11_uc003jte.2_Missense_Mutation_p.L67P NM_016338 NP_057422 Q9UI26 IPO11_HUMAN Ran binding protein 11 isoform 2 948 cytoplasm|nucleus protein binding lung(2)|skin(2) 4 Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077) Lung(70;0.0613) CAGGAGATGCTAGGAGAACAA 0.502 15 19 --- --- --- --- PASS APC 324 broad.mit.edu 37 5 112154688 112154688 + Nonsense_Mutation SNP C G G TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr5:112154688C>G uc010jby.2 + 10 1339 c.959C>G c.(958-960)TCA>TGA p.S320* APC_uc011cvt.1_Nonsense_Mutation_p.S302*|APC_uc003kpz.3_Nonsense_Mutation_p.S320*|APC_uc003kpy.3_Nonsense_Mutation_p.S320*|APC_uc010jbz.2_Nonsense_Mutation_p.S37*|APC_uc010jca.2_5'Flank NM_001127511 NP_001120983 P25054 APC_HUMAN adenomatous polyposis coli 320 Leu-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1) 2515 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) TCATTGTTGTCAATGCTTGGT 0.388 12 D|Mis|N|F|S colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome TSP Lung(16;0.13) 41 57 --- --- --- --- PASS PCDH12 51294 broad.mit.edu 37 5 141329130 141329130 + Silent SNP T G G TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr5:141329130T>G uc003llx.2 - 3 4208 c.2997A>C c.(2995-2997)ACA>ACC p.T999T NM_016580 NP_057664 Q9NPG4 PCD12_HUMAN protocadherin 12 precursor 999 Cytoplasmic (Potential). neuron recognition integral to plasma membrane calcium ion binding ovary(3) 3 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTGGGCCATCTGTGTCTGGGA 0.502 48 33 --- --- --- --- PASS GRM6 2916 broad.mit.edu 37 5 178413911 178413911 + Missense_Mutation SNP C A A TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr5:178413911C>A uc003mjr.2 - 7 1607 c.1428G>T c.(1426-1428)CAG>CAT p.Q476H GRM6_uc003mjq.2_5'Flank|GRM6_uc010jla.1_Missense_Mutation_p.Q59H|GRM6_uc003mjs.1_Missense_Mutation_p.Q96H NM_000843 NP_000834 O15303 GRM6_HUMAN glutamate receptor, metabotropic 6 precursor 476 Extracellular (Potential). detection of visible light|visual perception integral to plasma membrane lung(4)|ovary(2)|breast(1)|pancreas(1) 8 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) CATTGGTCGCCTGGTACTGGA 0.632 8 9 --- --- --- --- PASS HIST1H1E 3008 broad.mit.edu 37 6 26157147 26157147 + Nonsense_Mutation SNP A T T TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr6:26157147A>T uc003ngq.2 + 1 589 c.529A>T c.(529-531)AAA>TAA p.K177* HIST1H2BD_uc003ngr.2_5'Flank|HIST1H2BD_uc003ngs.2_5'Flank NM_005321 NP_005312 P10412 H14_HUMAN histone cluster 1, H1e 177 nucleosome assembly nucleosome|nucleus DNA binding|protein binding large_intestine(1)|ovary(1) 2 GAAAAAGGCGAAAGCAGCCAA 0.582 6 13 --- --- --- --- PASS BTN1A1 696 broad.mit.edu 37 6 26507025 26507025 + Missense_Mutation SNP G T T TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr6:26507025G>T uc003nif.3 + 4 844 c.824G>T c.(823-825)AGA>ATA p.R275I NM_001732 NP_001723 Q13410 BT1A1_HUMAN butyrophilin, subfamily 1, member A1 precursor 275 Cytoplasmic (Potential). extracellular region|integral to plasma membrane receptor activity ovary(1)|skin(1) 2 TACAACGAAAGACCCAGAGAG 0.488 39 106 --- --- --- --- PASS OR2B2 81697 broad.mit.edu 37 6 27879591 27879591 + Silent SNP A G G TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr6:27879591A>G uc011dkw.1 - 1 507 c.507T>C c.(505-507)TGT>TGC p.C169C NM_033057 NP_149046 Q9GZK3 OR2B2_HUMAN olfactory receptor, family 2, subfamily B, 169 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CTTTGTGACCACACAGTGGCA 0.473 19 51 --- --- --- --- PASS ZNF193 7746 broad.mit.edu 37 6 28195519 28195519 + Silent SNP C T T TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr6:28195519C>T uc003nkq.1 + 3 587 c.472C>T c.(472-474)CTA>TTA p.L158L ZNF193_uc003nkr.1_Silent_p.L158L|ZNF193_uc010jqz.1_Silent_p.L158L NM_006299 NP_006290 O15535 ZN193_HUMAN zinc finger protein 193 158 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 GATGGTGCCTCTAGCAGAGCA 0.483 7 17 --- --- --- --- PASS MDC1 9656 broad.mit.edu 37 6 30672865 30672865 + Silent SNP T C C TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr6:30672865T>C uc003nrg.3 - 10 4535 c.4095A>G c.(4093-4095)TCA>TCG p.S1365S MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Silent_p.S972S NM_014641 NP_055456 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 1365 Pro-rich.|Interaction with the PRKDC complex. cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|ovary(1)|kidney(1) 4 TAGGGACAGTTGATTCAGGGT 0.537 Other_conserved_DNA_damage_response_genes 25 57 --- --- --- --- PASS MDGA1 266727 broad.mit.edu 37 6 37605156 37605156 + Silent SNP C T T TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr6:37605156C>T uc003onu.1 - 17 4035 c.2856G>A c.(2854-2856)GCG>GCA p.A952A MDGA1_uc003onv.1_3'UTR NM_153487 NP_705691 Q8NFP4 MDGA1_HUMAN MAM domain containing 952 brain development|neuron migration|spinal cord association neuron differentiation anchored to plasma membrane central_nervous_system(2) 2 ATCTCTGCAACGCCAAGAGGA 0.637 6 24 --- --- --- --- PASS TINAG 27283 broad.mit.edu 37 6 54216195 54216195 + Missense_Mutation SNP G T T TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr6:54216195G>T uc003pcj.2 + 8 1272 c.1126G>T c.(1126-1128)GCC>TCC p.A376S TINAG_uc010jzt.2_RNA NM_014464 NP_055279 Q9UJW2 TINAG_HUMAN tubulointerstitial nephritis antigen 376 cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis basement membrane cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity ovary(3)|central_nervous_system(1) 4 Lung NSC(77;0.0518) LUSC - Lung squamous cell carcinoma(124;0.246) ACCAGTTCAAGGTAAGCTTGA 0.294 5 8 --- --- --- --- PASS LAMA2 3908 broad.mit.edu 37 6 129621881 129621881 + Missense_Mutation SNP C G G TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr6:129621881C>G uc003qbn.2 + 22 3143 c.3038C>G c.(3037-3039)GCT>GGT p.A1013G LAMA2_uc003qbo.2_Missense_Mutation_p.A1013G NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 1013 Laminin EGF-like 10. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) ACCGGTGAAGCTTGTGAATGT 0.378 15 37 --- --- --- --- PASS EPB41L2 2037 broad.mit.edu 37 6 131225639 131225639 + Missense_Mutation SNP G T T TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr6:131225639G>T uc003qch.2 - 6 1077 c.895C>A c.(895-897)CCT>ACT p.P299T EPB41L2_uc003qcg.1_Missense_Mutation_p.P299T|EPB41L2_uc011eby.1_Missense_Mutation_p.P299T|EPB41L2_uc003qci.2_Missense_Mutation_p.P299T|EPB41L2_uc010kfk.2_Missense_Mutation_p.P299T|EPB41L2_uc010kfl.1_Missense_Mutation_p.P299T NM_001431 NP_001422 O43491 E41L2_HUMAN erythrocyte membrane protein band 4.1-like 2 299 FERM. cortical actin cytoskeleton organization extrinsic to membrane|plasma membrane|spectrin actin binding|structural molecule activity central_nervous_system(1)|skin(1) 2 Breast(56;0.0639) OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355) GAAGGATCAGGAGGATAAAAC 0.343 15 12 --- --- --- --- PASS KIAA1244 57221 broad.mit.edu 37 6 138640890 138640890 + Missense_Mutation SNP T C C TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr6:138640890T>C uc003qhu.2 + 28 4525 c.4525T>C c.(4525-4527)TCC>CCC p.S1509P NM_020340 NP_065073 Q5TH69 BIG3_HUMAN brefeldin A-inhibited guanine 1509 Helical; (Potential). regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity ovary(1)|skin(1) 2 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) TCCTGTGATGTCCGTTTGGCT 0.502 41 70 --- --- --- --- PASS ECT2L 345930 broad.mit.edu 37 6 139135688 139135688 + Missense_Mutation SNP C G G TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr6:139135688C>G uc003qif.1 + 2 230 c.127C>G c.(127-129)CGT>GGT p.R43G ECT2L_uc011edq.1_5'UTR NM_001077706 NP_001071174 Q008S8 ECT2L_HUMAN epithelial cell transforming sequence 2 43 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity 0 TAACAAGCAACGTCAAGAATT 0.363 6 13 --- --- --- --- PASS FUCA2 2519 broad.mit.edu 37 6 143825251 143825251 + Missense_Mutation SNP A T T TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr6:143825251A>T uc003qjm.2 - 3 643 c.551T>A c.(550-552)TTT>TAT p.F184Y FUCA2_uc003qjn.2_5'Flank NM_032020 NP_114409 Q9BTY2 FUCO2_HUMAN fucosidase, alpha-L- 2, plasma precursor 184 fucose metabolic process extracellular region alpha-L-fucosidase activity|cation binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142) AAACCATTCAAAAAGGGAATA 0.448 19 32 --- --- --- --- PASS CCDC129 223075 broad.mit.edu 37 7 31682869 31682869 + Missense_Mutation SNP A G G TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr7:31682869A>G uc003tcj.1 + 11 2878 c.1885A>G c.(1885-1887)ACC>GCC p.T629A CCDC129_uc011kad.1_Missense_Mutation_p.T639A|CCDC129_uc003tci.1_Missense_Mutation_p.T480A|CCDC129_uc011kae.1_Missense_Mutation_p.T655A|CCDC129_uc003tck.1_Missense_Mutation_p.T537A NM_194300 NP_919276 Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 629 0 CTGTCCTCACACCAACCACAG 0.463 16 18 --- --- --- --- PASS DPY19L1 23333 broad.mit.edu 37 7 35050131 35050131 + Missense_Mutation SNP A G G TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr7:35050131A>G uc003tem.3 - 6 639 c.494T>C c.(493-495)ATT>ACT p.I165T NM_015283 NP_056098 Q2PZI1 D19L1_HUMAN dpy-19-like 1 165 Helical; (Potential). integral to membrane 0 TCCATTTAAAATAAAAATTAC 0.259 9 21 --- --- --- --- PASS GBAS 2631 broad.mit.edu 37 7 56066761 56066761 + Missense_Mutation SNP A T T TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr7:56066761A>T uc003tre.1 + 10 865 c.857A>T c.(856-858)CAG>CTG p.Q286L GBAS_uc003trf.1_Missense_Mutation_p.Q247L NM_001483 NP_001474 O75323 NIPS2_HUMAN nipsnap homolog 2 286 integral to plasma membrane|membrane fraction|mitochondrion protein binding central_nervous_system(1) 1 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) TCGCCCCTCCAGTAAAGCTGT 0.373 21 42 --- --- --- --- PASS MLXIPL 51085 broad.mit.edu 37 7 73021342 73021342 + Nonsense_Mutation SNP T A A TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr7:73021342T>A uc003tyn.1 - 5 628 c.580A>T c.(580-582)AAG>TAG p.K194* MLXIPL_uc003tyk.1_Nonsense_Mutation_p.K194*|MLXIPL_uc003tyl.1_Nonsense_Mutation_p.K194*|MLXIPL_uc003tym.1_Nonsense_Mutation_p.K194*|MLXIPL_uc003tyo.1_RNA|MLXIPL_uc003typ.1_Intron|MLXIPL_uc003tyq.1_5'Flank NM_032951 NP_116569 Q9NP71 WBS14_HUMAN Williams Beuren syndrome chromosome region 14 194 anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis cytosol|transcription factor complex carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding pancreas(1) 1 Lung NSC(55;0.0659)|all_lung(88;0.152) CTGCTGGGCTTACGGAGCTGC 0.592 OREG0018107 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 14 --- --- --- --- PASS HGF 3082 broad.mit.edu 37 7 81386580 81386580 + Missense_Mutation SNP T C C TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr7:81386580T>C uc003uhl.2 - 4 572 c.407A>G c.(406-408)TAC>TGC p.Y136C HGF_uc003uhm.2_Missense_Mutation_p.Y136C|HGF_uc003uhn.1_Missense_Mutation_p.Y136C|HGF_uc003uho.1_Missense_Mutation_p.Y136C|HGF_uc003uhp.2_Missense_Mutation_p.Y136C NM_000601 NP_000592 P14210 HGF_HUMAN hepatocyte growth factor isoform 1 136 Kringle 1. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity ovary(2)|central_nervous_system(2) 4 TGTTCCCTTGTAGCTGCGTCC 0.368 7 27 --- --- --- --- PASS GRM3 2913 broad.mit.edu 37 7 86468464 86468464 + Missense_Mutation SNP C G G TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr7:86468464C>G uc003uid.2 + 4 2733 c.1634C>G c.(1633-1635)ACC>AGC p.T545S GRM3_uc010lef.2_Intron|GRM3_uc010leg.2_Missense_Mutation_p.T417S|GRM3_uc010leh.2_Missense_Mutation_p.T137S NM_000840 NP_000831 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 precursor 545 Extracellular (Potential). synaptic transmission integral to plasma membrane lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1) 13 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) GATGAGTTTACCTGTATGGAT 0.527 32 138 --- --- --- --- PASS COL1A2 1278 broad.mit.edu 37 7 94052351 94052351 + Missense_Mutation SNP G T T TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr7:94052351G>T uc003ung.1 + 40 2957 c.2486G>T c.(2485-2487)GGC>GTC p.G829V COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_Intron NM_000089 NP_000080 P08123 CO1A2_HUMAN alpha 2 type I collagen precursor 829 Missing (in OI2A). axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1) 9 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) GGTCCAGTTGGCCGAACTGGA 0.567 HNSCC(75;0.22) 38 83 --- --- --- --- PASS HIPK2 28996 broad.mit.edu 37 7 139305195 139305195 + Silent SNP G A A TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr7:139305195G>A uc003vvf.3 - 7 1908 c.1734C>T c.(1732-1734)ACC>ACT p.T578T HIPK2_uc003vvd.3_Silent_p.T578T NM_022740 NP_073577 Q9H2X6 HIPK2_HUMAN homeodomain interacting protein kinase 2 isoform 578 Interaction with SKI and SMAD1. apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction centrosome|nuclear membrane|PML body ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding ovary(3)|central_nervous_system(3)|skin(1) 7 Melanoma(164;0.205) TGGTCAGGTTGGTGGACGTGC 0.552 23 69 --- --- --- --- PASS OR2F1 26211 broad.mit.edu 37 7 143657235 143657235 + Missense_Mutation SNP C A A TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr7:143657235C>A uc003wds.1 + 1 216 c.172C>A c.(172-174)CCC>ACC p.P58T NM_012369 NP_036501 Q13607 OR2F1_HUMAN olfactory receptor, family 2, subfamily F, 58 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 Melanoma(164;0.0903) ACTCCACACTCCCATGTATTT 0.502 53 213 --- --- --- --- PASS CRYGN 155051 broad.mit.edu 37 7 151135212 151135212 + Missense_Mutation SNP C A A TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr7:151135212C>A uc003wke.2 - 2 236 c.140G>T c.(139-141)GGA>GTA p.G47V CRYGN_uc003wkf.2_Missense_Mutation_p.G47V|CRYGN_uc003wkg.2_RNA|CRYGN_uc010lqd.1_5'Flank NM_144727 NP_653328 Q8WXF5 CRGN_HUMAN gammaN-crystallin 47 Beta/gamma crystallin 'Greek key' 2. 0 OV - Ovarian serous cystadenocarcinoma(82;0.00358) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GACCCAGGCTCCGCTCTCCAC 0.592 15 30 --- --- --- --- PASS CLN8 2055 broad.mit.edu 37 8 1719295 1719295 + Silent SNP C T T TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr8:1719295C>T uc003wpo.3 + 2 380 c.75C>T c.(73-75)TCC>TCT p.S25S NM_018941 NP_061764 Q9UBY8 CLN8_HUMAN ceroid-lipofuscinosis, neuronal 8 25 Helical; (Potential). cell death|ceramide biosynthetic process|cholesterol metabolic process|lipid transport|negative regulation of proteolysis|phospholipid metabolic process endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane ovary(1)|central_nervous_system(1)|skin(1) 3 Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831) BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913) GGATCCGCTCCACGCTGATGG 0.537 17 24 --- --- --- --- PASS PXDNL 137902 broad.mit.edu 37 8 52320767 52320767 + Silent SNP G C C TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr8:52320767G>C uc003xqu.3 - 17 3518 c.3417C>G c.(3415-3417)GCC>GCG p.A1139A PXDNL_uc003xqt.3_RNA NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 1139 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) GAATGATGGTGGCAGCCGAAT 0.517 17 77 --- --- --- --- PASS ARFGEF1 10565 broad.mit.edu 37 8 68179410 68179410 + Silent SNP G T T TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr8:68179410G>T uc003xxo.1 - 12 2118 c.1728C>A c.(1726-1728)GCC>GCA p.A576A ARFGEF1_uc003xxl.1_Silent_p.A30A NM_006421 NP_006412 Q9Y6D6 BIG1_HUMAN brefeldin A-inhibited guanine 576 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1) 8 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) CAAATATATTGGCTGCATTTA 0.313 17 52 --- --- --- --- PASS C8orf34 116328 broad.mit.edu 37 8 69552748 69552748 + Splice_Site SNP T A A TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr8:69552748T>A uc010lyz.2 + 8 1032 c.983_splice c.e8+2 p.R328_splice C8orf34_uc003xyb.2_Splice_Site_p.R303_splice NM_052958 NP_443190 Q49A92 CH034_HUMAN hypothetical protein LOC116328 signal transduction cAMP-dependent protein kinase regulator activity large_intestine(1) 1 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) GTGTGCCAGGTAAAAGACATA 0.383 24 18 --- --- --- --- PASS CRISPLD1 83690 broad.mit.edu 37 8 75927109 75927109 + Missense_Mutation SNP G A A TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr8:75927109G>A uc003yan.2 + 6 1064 c.689G>A c.(688-690)AGT>AAT p.S230N CRISPLD1_uc011lfk.1_Missense_Mutation_p.S42N|CRISPLD1_uc011lfl.1_Missense_Mutation_p.S42N NM_031461 NP_113649 Q9H336 CRLD1_HUMAN cysteine-rich secretory protein LCCL domain 230 extracellular region ovary(1)|central_nervous_system(1) 2 Breast(64;0.0799) Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161) TGCCCACCTAGTTTTGGAGGG 0.438 16 17 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77764469 77764469 + Missense_Mutation SNP C T T TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr8:77764469C>T uc003yav.2 + 10 5564 c.5177C>T c.(5176-5178)GCT>GTT p.A1726V ZFHX4_uc003yau.1_Missense_Mutation_p.A1771V|ZFHX4_uc003yaw.1_Missense_Mutation_p.A1726V NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 1726 Gln-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) ACAGGAATGGCTGGCTCCTTG 0.433 HNSCC(33;0.089) 5 14 --- --- --- --- PASS MATN2 4147 broad.mit.edu 37 8 98943591 98943591 + Missense_Mutation SNP C T T TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr8:98943591C>T uc003yic.2 + 3 784 c.553C>T c.(553-555)CGG>TGG p.R185W MATN2_uc003yib.1_Missense_Mutation_p.R185W|MATN2_uc010mbh.1_Missense_Mutation_p.R185W|MATN2_uc003yid.2_Missense_Mutation_p.R185W|MATN2_uc003yie.1_Missense_Mutation_p.R185W|MATN2_uc010mbi.1_Missense_Mutation_p.R59W NM_002380 NP_002371 O00339 MATN2_HUMAN matrilin 2 isoform a precursor 185 VWFA 1. proteinaceous extracellular matrix calcium ion binding ovary(2) 2 Breast(36;1.43e-06) OV - Ovarian serous cystadenocarcinoma(57;0.244) TGCTAAGGCACGGGACACGGG 0.587 14 21 --- --- --- --- PASS FBXO43 286151 broad.mit.edu 37 8 101146070 101146070 + Missense_Mutation SNP G A A TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr8:101146070G>A uc003yjd.2 - 5 2800 c.2087C>T c.(2086-2088)CCA>CTA p.P696L FBXO43_uc003yje.2_Missense_Mutation_p.P662L NM_001029860 NP_001025031 Q4G163 FBX43_HUMAN F-box protein 43 isoform b 696 meiosis zinc ion binding kidney(1)|skin(1) 2 all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798) Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957) GGCACTTCCTGGGAGAGCATC 0.398 14 63 --- --- --- --- PASS RIMS2 9699 broad.mit.edu 37 8 104898414 104898414 + Silent SNP T C C TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr8:104898414T>C uc003yls.2 + 2 1162 c.921T>C c.(919-921)GAT>GAC p.D307D RIMS2_uc003ylp.2_Silent_p.D529D|RIMS2_uc003ylw.2_Silent_p.D337D|RIMS2_uc003ylq.2_Silent_p.D337D|RIMS2_uc003ylr.2_Silent_p.D337D NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 560 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) CAAGTTGTGATGATGTTGAGA 0.363 HNSCC(12;0.0054) 9 36 --- --- --- --- PASS MED30 90390 broad.mit.edu 37 8 118533160 118533160 + Silent SNP C G G TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr8:118533160C>G uc003yoj.2 + 1 196 c.45C>G c.(43-45)CCC>CCG p.P15P MED30_uc011lib.1_Silent_p.P15P NM_080651 NP_542382 Q96HR3 MED30_HUMAN TRAP/Mediator complex component TRAP25 15 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding 0 all_cancers(13;3.41e-25)|Lung NSC(37;3.02e-05)|Ovarian(258;0.00163) STAD - Stomach adenocarcinoma(47;0.0266) CGCCCGGGCCCTTCGCCGGGC 0.716 14 11 --- --- --- --- PASS FAM135B 51059 broad.mit.edu 37 8 139160838 139160838 + Missense_Mutation SNP A T T TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr8:139160838A>T uc003yuy.2 - 14 3544 c.3373T>A c.(3373-3375)TAT>AAT p.Y1125N FAM135B_uc003yux.2_Missense_Mutation_p.Y1026N|FAM135B_uc003yuz.2_Intron|FAM135B_uc003yva.2_Missense_Mutation_p.Y687N|FAM135B_uc003yvb.2_Intron NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 1125 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) GGTGGGAAATATGGTATATCA 0.373 HNSCC(54;0.14) 16 13 --- --- --- --- PASS PTPRD 5789 broad.mit.edu 37 9 8527348 8527348 + Missense_Mutation SNP T G G TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr9:8527348T>G uc003zkk.2 - 15 1258 c.547A>C c.(547-549)ATT>CTT p.I183L PTPRD_uc003zkp.2_Missense_Mutation_p.I183L|PTPRD_uc003zkq.2_Missense_Mutation_p.I183L|PTPRD_uc003zkr.2_Missense_Mutation_p.I183L|PTPRD_uc003zks.2_Missense_Mutation_p.I183L|PTPRD_uc003zkl.2_Missense_Mutation_p.I183L|PTPRD_uc003zkm.2_Intron|PTPRD_uc003zkn.2_Missense_Mutation_p.I183L|PTPRD_uc003zko.2_Intron NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 183 Extracellular (Potential).|Ig-like C2-type 2. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1) 22 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) CACTTACCAATAGATTCTGGA 0.284 TSP Lung(15;0.13) 11 22 --- --- --- --- PASS IFNA4 3441 broad.mit.edu 37 9 21187362 21187362 + Missense_Mutation SNP G T T rs144166492 byFrequency TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr9:21187362G>T uc003zon.2 - 1 237 c.169C>A c.(169-171)CAT>AAT p.H57N NM_021068 NP_066546 P05014 IFNA4_HUMAN interferon, alpha 4 precursor 57 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(5;2.69e-202)|Lung(24;2.26e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) CCGAAATCATGTCTGTCCTTC 0.517 19 78 --- --- --- --- PASS POLR1E 64425 broad.mit.edu 37 9 37495219 37495219 + Missense_Mutation SNP C T T TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr9:37495219C>T uc003zzz.1 + 6 1075 c.787C>T c.(787-789)CCT>TCT p.P263S POLR1E_uc011lqj.1_Silent_p.F140F|POLR1E_uc003zzy.1_Missense_Mutation_p.P201S|POLR1E_uc011lqk.1_Missense_Mutation_p.P130S NM_022490 NP_071935 Q9GZS1 RPA49_HUMAN RNA polymerase I associated factor 53 263 rRNA transcription cell junction|cytoplasm|nucleolus DNA binding|DNA-directed RNA polymerase activity|protein binding 0 GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229) CCTCTACCTTCCTCCCTGCTA 0.423 34 65 --- --- --- --- PASS OR13D1 286365 broad.mit.edu 37 9 107456872 107456872 + Missense_Mutation SNP T G G TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr9:107456872T>G uc011lvs.1 + 1 170 c.170T>G c.(169-171)CTT>CGT p.L57R NM_001004484 NP_001004484 Q8NGV5 O13D1_HUMAN olfactory receptor, family 13, subfamily D, 57 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 GAGCTCCAGCTTTTTCTGTTC 0.478 31 76 --- --- --- --- PASS MUSK 4593 broad.mit.edu 37 9 113547908 113547908 + Missense_Mutation SNP C A A TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr9:113547908C>A uc004bey.2 + 12 1786 c.1688C>A c.(1687-1689)CCC>CAC p.P563H MUSK_uc004bez.1_Missense_Mutation_p.P143H NM_005592 NP_005583 O15146 MUSK_HUMAN skeletal muscle receptor tyrosine kinase 563 Cytoplasmic (Potential). transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity lung(3)|ovary(2)|central_nervous_system(1) 6 CTTCTGAACCCCAAATTGCTC 0.483 9 59 --- --- --- --- PASS MUSK 4593 broad.mit.edu 37 9 113547909 113547909 + Silent SNP C A A TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr9:113547909C>A uc004bey.2 + 12 1787 c.1689C>A c.(1687-1689)CCC>CCA p.P563P MUSK_uc004bez.1_Silent_p.P143P NM_005592 NP_005583 O15146 MUSK_HUMAN skeletal muscle receptor tyrosine kinase 563 Cytoplasmic (Potential). transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity lung(3)|ovary(2)|central_nervous_system(1) 6 TTCTGAACCCCAAATTGCTCA 0.483 10 59 --- --- --- --- PASS MUSK 4593 broad.mit.edu 37 9 113547910 113547910 + Nonsense_Mutation SNP A T T TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr9:113547910A>T uc004bey.2 + 12 1788 c.1690A>T c.(1690-1692)AAA>TAA p.K564* MUSK_uc004bez.1_Nonsense_Mutation_p.K144* NM_005592 NP_005583 O15146 MUSK_HUMAN skeletal muscle receptor tyrosine kinase 564 Cytoplasmic (Potential). transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity lung(3)|ovary(2)|central_nervous_system(1) 6 TCTGAACCCCAAATTGCTCAG 0.483 10 60 --- --- --- --- PASS ZFP37 7539 broad.mit.edu 37 9 115805911 115805911 + Silent SNP G T T TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr9:115805911G>T uc004bgm.1 - 4 1015 c.987C>A c.(985-987)GCC>GCA p.A329A ZFP37_uc011lwz.1_Silent_p.A344A|ZFP37_uc011lxa.1_Silent_p.A330A NM_003408 NP_003399 Q9Y6Q3 ZFP37_HUMAN zinc finger protein 37 homolog 329 C2H2-type 2. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 TTTGGCTAAAGGCTATCCCAC 0.413 34 77 --- --- --- --- PASS NOTCH1 4851 broad.mit.edu 37 9 139396757 139396757 + Missense_Mutation SNP C A A TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr9:139396757C>A uc004chz.2 - 28 5351 c.5351G>T c.(5350-5352)CGG>CTG p.R1784L NM_017617 NP_060087 P46531 NOTC1_HUMAN notch1 preproprotein 1784 Cytoplasmic (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity p.K1783_R1784ins31(2) haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1) 856 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GAGGGGCTCCCGCCGCTTCTT 0.701 T|Mis|O TRB@ T-ALL HNSCC(8;0.001) 11 14 --- --- --- --- PASS TAF3 83860 broad.mit.edu 37 10 8007226 8007226 + Missense_Mutation SNP G T T TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr10:8007226G>T uc010qbd.1 + 3 1753 c.1753G>T c.(1753-1755)GCA>TCA p.A585S NM_031923 NP_114129 Q5VWG9 TAF3_HUMAN RNA polymerase II transcription factor TAFII140 585 Lys-rich. maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription factor TFIID complex protein binding|zinc ion binding ovary(1) 1 AGAGGAAGAGGCAGATCCCTA 0.284 10 35 --- --- --- --- PASS PRKG1 5592 broad.mit.edu 37 10 53227593 53227593 + Missense_Mutation SNP A G G TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr10:53227593A>G uc001jjm.2 + 3 738 c.544A>G c.(544-546)AAG>GAG p.K182E PRKG1_uc001jjn.2_Missense_Mutation_p.K197E|PRKG1_uc001jjo.2_Missense_Mutation_p.K197E|PRKG1_uc010qhp.1_Missense_Mutation_p.K182E NM_001098512 NP_001091982 Q13976 KGP1_HUMAN protein kinase, cGMP-dependent, type I isoform 182 cGMP 1. actin cytoskeleton organization|platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity lung(2)|stomach(1)|ovary(1)|central_nervous_system(1)|skin(1) 6 all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173) all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606) AGCGACCGTCAAGAGTAAGAC 0.358 8 37 --- --- --- --- PASS TFAM 7019 broad.mit.edu 37 10 60147948 60147948 + Splice_Site SNP A G G TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr10:60147948A>G uc001jkf.2 + 3 353 c.221_splice c.e3-2 p.D74_splice TFAM_uc001jkg.2_Splice_Site|TFAM_uc001jkh.2_Splice_Site_p.D74_splice NM_003201 NP_003192 Q00059 TFAM_HUMAN transcription factor A, mitochondrial precursor DNA-dependent DNA replication|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase I promoter|transcription initiation from mitochondrial promoter mitochondrial nucleoid mitochondrial light strand promoter sense binding|protein binding|sequence-specific DNA binding transcription factor activity 0 TTCATTCCATAGATGCAAAAA 0.338 12 20 --- --- --- --- PASS SFTPA1 653509 broad.mit.edu 37 10 81373017 81373017 + Missense_Mutation SNP G A A TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr10:81373017G>A uc001kap.2 + 5 486 c.365G>A c.(364-366)AGG>AAG p.R122K SFTPA1_uc001kaq.2_Missense_Mutation_p.R122K|SFTPA1_uc009xry.2_Missense_Mutation_p.R137K|SFTPA1_uc001kar.2_Missense_Mutation_p.R122K|SFTPA1_uc010qlt.1_Missense_Mutation_p.R63K|SFTPA1_uc009xrz.2_Missense_Mutation_p.R52K|SFTPA1_uc009xsa.2_Missense_Mutation_p.R122K|SFTPA1_uc009xsf.2_5'Flank NM_005411 NP_005402 Q8IWL2 SFTA1_HUMAN surfactant protein A1 isoform 1 122 cell junction assembly|respiratory gaseous exchange collagen|extracellular space lipid transporter activity|sugar binding 0 all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149) Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229) CTGCAGACAAGGGGAGGTAAG 0.532 22 84 --- --- --- --- PASS ANXA11 311 broad.mit.edu 37 10 81928934 81928934 + Missense_Mutation SNP G C C TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr10:81928934G>C uc001kbq.1 - 6 1177 c.352C>G c.(352-354)CCC>GCC p.P118A ANXA11_uc010qlx.1_Missense_Mutation_p.P218A|ANXA11_uc001kbr.1_Missense_Mutation_p.P118A|ANXA11_uc001kbs.1_Missense_Mutation_p.P118A|ANXA11_uc001kbt.1_Missense_Mutation_p.P118A|ANXA11_uc010qly.1_Missense_Mutation_p.P85A|ANXA11_uc009xsq.1_Missense_Mutation_p.P118A|ANXA11_uc001kbu.1_Missense_Mutation_p.P118A NM_145869 NP_665876 P50995 ANX11_HUMAN annexin A11 118 cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding ovary(1) 1 Prostate(51;0.00985)|all_epithelial(25;0.0951) Colorectal(32;0.109) GGATATGAGGGCATCCTGGAG 0.697 2 5 --- --- --- --- PASS PKD2L1 9033 broad.mit.edu 37 10 102052704 102052704 + Splice_Site SNP C G G TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr10:102052704C>G uc001kqx.1 - 11 2263 c.1880_splice c.e11+1 p.E627_splice PKD2L1_uc009xwm.1_Splice_Site_p.E580_splice NM_016112 NP_057196 Q9P0L9 PK2L1_HUMAN polycystic kidney disease 2-like 1 signal transduction integral to membrane calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding ovary(4) 4 Colorectal(252;0.117) Epithelial(162;6.15e-10)|all cancers(201;5.14e-08) TGGTTGCTCACTCCCTTAAGG 0.488 10 38 --- --- --- --- PASS DUSP5 1847 broad.mit.edu 37 10 112258016 112258016 + Missense_Mutation SNP A T T rs149325838 TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr10:112258016A>T uc001kzd.2 + 1 392 c.137A>T c.(136-138)AAC>ATC p.N46I NM_004419 NP_004410 Q16690 DUS5_HUMAN dual specificity phosphatase 5 46 Rhodanese. endoderm formation|inactivation of MAPK activity nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity upper_aerodigestive_tract(1) 1 Breast(234;0.0848) Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12) CTCAACGTCAACCTCAACTCG 0.632 6 23 --- --- --- --- PASS PWWP2B 170394 broad.mit.edu 37 10 134218192 134218192 + Missense_Mutation SNP A G G TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr10:134218192A>G uc001lll.3 + 2 217 c.188A>G c.(187-189)AAC>AGC p.N63S PWWP2B_uc009ybe.2_Missense_Mutation_p.N63S NM_138499 NP_612508 Q6NUJ5 PWP2B_HUMAN PWWP domain containing 2 isoform 1 63 0 all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224) OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186) TCCCCTGTCAACGACAGCCAT 0.677 28 88 --- --- --- --- PASS GPR123 84435 broad.mit.edu 37 10 134912164 134912164 + Missense_Mutation SNP A G G TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr10:134912164A>G uc001llx.3 + 4 588 c.152A>G c.(151-153)AAG>AGG p.K51R GPR123_uc001llw.2_Missense_Mutation_p.K771R NM_001083909 NP_001077378 Q86SQ6 GP123_HUMAN G protein-coupled receptor 123 51 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity 0 all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05) ATCAGCCGCAAGGGCCGGCAC 0.652 17 32 --- --- --- --- PASS PAOX 196743 broad.mit.edu 37 10 135193889 135193889 + Missense_Mutation SNP C G G TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr10:135193889C>G uc001lmv.2 + 2 648 c.568C>G c.(568-570)CTG>GTG p.L190V PAOX_uc001lmw.2_Intron|PAOX_uc001lmx.2_Missense_Mutation_p.L190V|PAOX_uc001lmy.2_Missense_Mutation_p.L190V|PAOX_uc001lmz.2_RNA|PAOX_uc001lna.2_Intron|PAOX_uc001lnb.2_RNA|PAOX_uc001lnc.2_Intron NM_152911 NP_690875 Q6QHF9 PAOX_HUMAN polyamine oxidase isoform 1 328 polyamine biosynthetic process|xenobiotic metabolic process peroxisomal matrix polyamine oxidase activity 0 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06) CTTCTTCAACCTGGAATGCTG 0.597 7 28 --- --- --- --- PASS SYCE1 93426 broad.mit.edu 37 10 135369308 135369308 + Missense_Mutation SNP C T T rs150742469 TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr10:135369308C>T uc001lno.2 - 10 800 c.695G>A c.(694-696)CGC>CAC p.R232H CYP2E1_uc001lnl.1_3'UTR|SYCE1_uc001lnm.2_Missense_Mutation_p.R104H|SYCE1_uc009ybn.2_Missense_Mutation_p.R232H|SYCE1_uc001lnn.2_Missense_Mutation_p.R196H NM_001143764 NP_001137236 Q8N0S2 SYCE1_HUMAN synaptonemal complex central element protein 1 232 Potential. cell division central element ovary(1) 1 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) CTCCTGGCTGCGGAGAAAGAG 0.642 14 19 --- --- --- --- PASS MUC5B 727897 broad.mit.edu 37 11 1267408 1267408 + Missense_Mutation SNP C A A TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr11:1267408C>A uc009ycr.1 + 49 11173 c.11047C>A c.(11047-11049)CCG>ACG p.P3683T MUC5B_uc001ltb.2_Missense_Mutation_p.P3103T NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 3100 7 X Cys-rich subdomain repeats.|Thr-rich.|17 X approximate tandem repeats, Ser/Thr- rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CTCCTCCACTCCGGAGACCAC 0.642 12 31 --- --- --- --- PASS OR51Q1 390061 broad.mit.edu 37 11 5443646 5443646 + Missense_Mutation SNP C A A TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr11:5443646C>A uc010qzd.1 + 1 216 c.216C>A c.(214-216)GAC>GAA p.D72E HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001004757 NP_001004757 Q8NH59 O51Q1_HUMAN olfactory receptor, family 51, subfamily Q, 72 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCCTGACGGACCTGGGTCTCA 0.532 29 63 --- --- --- --- PASS OR51Q1 390061 broad.mit.edu 37 11 5443647 5443647 + Missense_Mutation SNP C A A TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr11:5443647C>A uc010qzd.1 + 1 217 c.217C>A c.(217-219)CTG>ATG p.L73M HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001004757 NP_001004757 Q8NH59 O51Q1_HUMAN olfactory receptor, family 51, subfamily Q, 73 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCTGACGGACCTGGGTCTCAC 0.532 29 63 --- --- --- --- PASS TRIM6 117854 broad.mit.edu 37 11 5632516 5632516 + Missense_Mutation SNP T C C TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr11:5632516T>C uc001mbc.1 + 8 1543 c.1411T>C c.(1411-1413)TAT>CAT p.Y471H HBG2_uc001mak.1_Intron|TRIM6-TRIM34_uc001mbf.2_Intron|TRIM6_uc009yeo.1_Missense_Mutation_p.Y445H|TRIM6_uc010qzj.1_Missense_Mutation_p.Y296H|TRIM6_uc001mbe.2_Missense_Mutation_p.Y296H|TRIM6_uc010qzk.1_Missense_Mutation_p.Y296H|TRIM6_uc010qzl.1_Missense_Mutation_p.Y296H|TRIM6_uc001mbd.2_Missense_Mutation_p.Y499H|TRIM6_uc001mbg.1_Missense_Mutation_p.Y296H|TRIM6_uc009yep.1_3'UTR NM_058166 NP_477514 Q9C030 TRIM6_HUMAN tripartite motif-containing 6 isoform 2 471 B30.2/SPRY. protein trimerization cytoplasm zinc ion binding 0 Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212) Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192) TCTTTGTCCATATTTTAATCC 0.413 36 79 --- --- --- --- PASS CNGA4 1262 broad.mit.edu 37 11 6262857 6262857 + Missense_Mutation SNP G C C TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr11:6262857G>C uc001mco.2 + 5 1221 c.1114G>C c.(1114-1116)GGT>CGT p.G372R CNGA4_uc010raa.1_Missense_Mutation_p.G141R|CNGA4_uc001mcn.2_Missense_Mutation_p.G332R NM_001037329 NP_001032406 Q8IV77 CNGA4_HUMAN cyclic nucleotide gated channel alpha 4 372 cNMP.|Cytoplasmic (Potential). response to stimulus|sensory perception of smell cAMP binding skin(1) 1 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTACTCACCAGGTGAATATGT 0.557 25 64 --- --- --- --- PASS OR10A4 283297 broad.mit.edu 37 11 6898394 6898394 + Silent SNP C A A TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr11:6898394C>A uc010rat.1 + 1 516 c.516C>A c.(514-516)CCC>CCA p.P172P NM_207186 NP_997069 Q9H209 O10A4_HUMAN olfactory receptor, family 10, subfamily A, 172 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) TTTGTGGCCCCAACAGGGTGA 0.527 19 42 --- --- --- --- PASS NLRP10 338322 broad.mit.edu 37 11 7982313 7982313 + Silent SNP T A A TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr11:7982313T>A uc001mfv.1 - 2 863 c.846A>T c.(844-846)ACA>ACT p.T282T NM_176821 NP_789791 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 282 NACHT. ATP binding lung(4)|ovary(2)|pancreas(1)|kidney(1)|skin(1) 9 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) ACGTGGGGAGTGTATGTCTCC 0.522 28 50 --- --- --- --- PASS PRDM11 56981 broad.mit.edu 37 11 45203858 45203858 + Missense_Mutation SNP G T T TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr11:45203858G>T uc001myo.2 + 4 532 c.283G>T c.(283-285)GAC>TAC p.D95Y NM_020229 NP_064614 Q9NQV5 PRD11_HUMAN PR domain containing 11 95 upper_aerodigestive_tract(1) 1 GGGGAAGCGCGACCTCATCGT 0.592 3 20 --- --- --- --- PASS OR4X2 119764 broad.mit.edu 37 11 48267363 48267363 + Silent SNP C T T rs144663280 byFrequency TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr11:48267363C>T uc001ngs.1 + 1 708 c.708C>T c.(706-708)TTC>TTT p.F236F NM_001004727 NP_001004727 Q8NGF9 OR4X2_HUMAN olfactory receptor, family 4, subfamily X, 236 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GGTCCCATTTCGCTGTGGTTA 0.522 14 18 --- --- --- --- PASS OR5D18 219438 broad.mit.edu 37 11 55587447 55587447 + Silent SNP T C C TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr11:55587447T>C uc010rin.1 + 1 342 c.342T>C c.(340-342)TTT>TTC p.F114F NM_001001952 NP_001001952 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, 114 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_epithelial(135;0.208) CTGAATCCTTTTTATTAGCTG 0.438 46 112 --- --- --- --- PASS OR5J2 282775 broad.mit.edu 37 11 55944433 55944433 + Silent SNP T C C TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr11:55944433T>C uc010rjb.1 + 1 340 c.340T>C c.(340-342)TTA>CTA p.L114L NM_001005492 NP_001005492 Q8NH18 OR5J2_HUMAN olfactory receptor, family 5, subfamily J, 114 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|large_intestine(1)|breast(1)|pancreas(1) 4 Esophageal squamous(21;0.00693) AGAAGGCTTCTTACTGTCAGT 0.473 24 67 --- --- --- --- PASS CD5 921 broad.mit.edu 37 11 60889118 60889118 + Missense_Mutation SNP G A A TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr11:60889118G>A uc009ynk.2 + 6 944 c.841G>A c.(841-843)GGC>AGC p.G281S NM_014207 NP_055022 P06127 CD5_HUMAN CD5 molecule precursor 281 Extracellular (Potential).|SRCR 3. cell proliferation|cell recognition integral to plasma membrane scavenger receptor activity ovary(1) 1 all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05) BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528) TCTGGTGGGGGGCAGCAGCAT 0.637 5 24 --- --- --- --- PASS TSGA10IP 254187 broad.mit.edu 37 11 65721086 65721086 + Missense_Mutation SNP G T T TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr11:65721086G>T uc001ogk.1 + 7 1232 c.1200G>T c.(1198-1200)CAG>CAT p.Q400H TSGA10IP_uc009yqw.1_RNA|TSGA10IP_uc009yqx.1_RNA NM_152762 NP_689975 Q3SY00 T10IP_HUMAN testis specific, 10 interacting protein 400 Potential. 0 AGCGGCAGCAGGCCGAGCTGC 0.721 12 27 --- --- --- --- PASS MOGAT2 80168 broad.mit.edu 37 11 75442316 75442316 + Missense_Mutation SNP C G G TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr11:75442316C>G uc010rru.1 + 6 990 c.990C>G c.(988-990)CAC>CAG p.H330Q MOGAT2_uc010rrv.1_Missense_Mutation_p.H248Q NM_025098 NP_079374 Q3SYC2 MOGT2_HUMAN monoacylglycerol O-acyltransferase 2 330 glycerol metabolic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity ovary(2) 2 Ovarian(111;0.103) CTGACCAGCACTTGGAGTTCT 0.537 9 34 --- --- --- --- PASS SYTL2 54843 broad.mit.edu 37 11 85418532 85418532 + Silent SNP G T T TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr11:85418532G>T uc010rth.1 - 13 2319 c.2043C>A c.(2041-2043)GGC>GGA p.G681G SYTL2_uc010rtg.1_Silent_p.G682G|SYTL2_uc010rti.1_Silent_p.G657G|SYTL2_uc010rtj.1_Silent_p.G649G|SYTL2_uc001pav.2_Silent_p.G123G|SYTL2_uc010rte.1_Silent_p.G83G|SYTL2_uc001pax.2_Silent_p.G123G|SYTL2_uc001paz.2_Silent_p.G2G|SYTL2_uc001pba.2_Silent_p.G66G|SYTL2_uc001pay.2_Silent_p.G112G|SYTL2_uc001paw.2_Silent_p.G83G|SYTL2_uc009yvj.2_RNA|SYTL2_uc001pbd.2_Silent_p.G979G|SYTL2_uc001pbb.2_Silent_p.G1019G|SYTL2_uc001pbc.2_Silent_p.G1003G|SYTL2_uc010rtf.1_Silent_p.G499G NM_001162951 NP_001156423 Q9HCH5 SYTL2_HUMAN synaptotagmin-like 2 isoform g 681 C2 1. intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding ovary(2)|large_intestine(1) 3 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237) TTTTCTTCTTGCCCATTTTGC 0.373 17 77 --- --- --- --- PASS ROBO3 64221 broad.mit.edu 37 11 124743597 124743597 + Missense_Mutation SNP C A A TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr11:124743597C>A uc001qbc.2 + 11 1815 c.1623C>A c.(1621-1623)GAC>GAA p.D541E NM_022370 NP_071765 Q96MS0 ROBO3_HUMAN roundabout, axon guidance receptor, homolog 3 541 Extracellular (Potential). axon midline choice point recognition integral to membrane receptor activity breast(1)|central_nervous_system(1) 2 all_hematologic(175;0.215) Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296) CTGCAGAAGACTGGGGAGTAT 0.522 4 23 --- --- --- --- PASS HEPACAM 220296 broad.mit.edu 37 11 124794863 124794863 + Missense_Mutation SNP T A A TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr11:124794863T>A uc001qbk.2 - 2 594 c.188A>T c.(187-189)GAC>GTC p.D63V HEPACAM_uc009zbj.2_5'Flank|HEPACAM_uc001qbl.1_Missense_Mutation_p.D63V NM_152722 NP_689935 Q14CZ8 HECAM_HUMAN hepatocyte cell adhesion molecule precursor 63 Extracellular (Potential).|Ig-like V-type. cell adhesion|cell cycle arrest|regulation of growth cytoplasm|integral to membrane pancreas(1) 1 all_hematologic(175;0.215) Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308) TACAGGCCTGTCGCTGCTGGT 0.622 14 39 --- --- --- --- PASS SRPR 6734 broad.mit.edu 37 11 126136409 126136409 + Missense_Mutation SNP C G G TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr11:126136409C>G uc001qdh.2 - 6 853 c.802G>C c.(802-804)GGA>CGA p.G268R SRPR_uc010sbm.1_Missense_Mutation_p.G240R|FOXRED1_uc001qdi.2_5'Flank|FOXRED1_uc010sbn.1_5'Flank|FOXRED1_uc010sbo.1_5'Flank|FOXRED1_uc010sbp.1_5'Flank|FOXRED1_uc010sbq.1_5'Flank|FOXRED1_uc001qdj.2_5'Flank|FOXRED1_uc010sbr.1_5'Flank NM_003139 NP_003130 P08240 SRPR_HUMAN signal recognition particle receptor 268 SRP-dependent cotranslational protein targeting to membrane integral to membrane|signal recognition particle receptor complex GTP binding|GTPase activity|receptor activity|signal recognition particle binding 0 all_hematologic(175;0.145) BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736) TCAGGGGTTCCATTGGTGGTG 0.502 23 52 --- --- --- --- PASS ADAMTS15 170689 broad.mit.edu 37 11 130319592 130319592 + Missense_Mutation SNP C G G TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr11:130319592C>G uc010scd.1 + 1 724 c.724C>G c.(724-726)CTG>GTG p.L242V NM_139055 NP_620686 Q8TE58 ATS15_HUMAN a disintegrin-like and metalloprotease 242 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(2)|pancreas(1)|lung(1)|skin(1) 5 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215) GGAACATTATCTGCTGACGCT 0.602 OREG0021518 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 5 --- --- --- --- PASS LRP6 4040 broad.mit.edu 37 12 12336941 12336941 + Silent SNP G A A TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr12:12336941G>A uc001rah.3 - 5 1091 c.949C>T c.(949-951)CTG>TTG p.L317L BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Silent_p.L317L NM_002336 NP_002327 O75581 LRP6_HUMAN low density lipoprotein receptor-related protein 317 Extracellular (Potential).|EGF-like 1. cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding lung(4)|skin(4)|ovary(2)|kidney(1)|central_nervous_system(1) 12 Prostate(47;0.0865) CCATTCTCCAGGAGTTTGACC 0.368 12 42 --- --- --- --- PASS KIF5A 3798 broad.mit.edu 37 12 57957917 57957917 + Missense_Mutation SNP G A A TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr12:57957917G>A uc001sor.1 + 4 526 c.318G>A c.(316-318)ATG>ATA p.M106I KIF5A_uc010srr.1_Intron NM_004984 NP_004975 Q12840 KIF5A_HUMAN kinesin family member 5A 106 Kinesin-motor. blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity ovary(2)|skin(1) 3 CTCAGCTGATGGGAATCATTC 0.517 15 41 --- --- --- --- PASS MDM2 4193 broad.mit.edu 37 12 69218345 69218345 + Missense_Mutation SNP A C C TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr12:69218345A>C uc001sui.2 + 7 724 c.437A>C c.(436-438)CAA>CCA p.Q146P MDM2_uc009zri.2_Missense_Mutation_p.Q101P|MDM2_uc009zqx.2_Intron|MDM2_uc009zqw.2_Missense_Mutation_p.Q146P|MDM2_uc001suk.2_Intron|MDM2_uc009zqy.1_Missense_Mutation_p.Q135P|MDM2_uc001sun.3_Intron|MDM2_uc009zqz.2_Missense_Mutation_p.Q140P|MDM2_uc009zra.2_Intron|MDM2_uc001sum.1_Intron|MDM2_uc009zrd.2_5'UTR|MDM2_uc009zrc.2_5'UTR|MDM2_uc009zre.2_Intron|MDM2_uc009zrf.2_Intron|MDM2_uc001suo.2_Intron|MDM2_uc009zrg.2_Intron|MDM2_uc009zrh.2_Intron NM_002392 NP_002383 Q00987 MDM2_HUMAN mouse double minute 2 homolog isoform MDM2 140 cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding lung(2)|central_nervous_system(1) 3 all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684) all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143) GACCTTGTACAAGAGCTTCAG 0.328 A sarcoma|glioma|colorectal|other 9 27 --- --- --- --- PASS NAV3 89795 broad.mit.edu 37 12 78571406 78571406 + Silent SNP C A A TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr12:78571406C>A uc001syp.2 + 28 5477 c.5304C>A c.(5302-5304)CCC>CCA p.P1768P NAV3_uc001syo.2_Intron|NAV3_uc010sub.1_Intron|NAV3_uc009zsf.2_Intron NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 1768 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 ACAGGTCACCCCTTGTCTGGC 0.428 HNSCC(70;0.22) 8 10 --- --- --- --- PASS CLLU1OS 574016 broad.mit.edu 37 12 92821903 92821903 + Missense_Mutation SNP T C C TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr12:92821903T>C uc001tcb.1 - 1 22 c.20A>G c.(19-21)AAC>AGC p.N7S CLLU1_uc001tcc.2_Intron|CLLU1_uc001tcd.2_Intron|CLLU1_uc001tce.1_Intron|CLLU1_uc001tcf.2_Intron NM_001025232 NP_001020403 Q5K130 CLU1O_HUMAN chronic lymphocytic leukemia up-regulated 1 7 0 cttaagttcgttgtgccccaa 0.060 17 46 --- --- --- --- PASS FGD6 55785 broad.mit.edu 37 12 95535241 95535241 + Missense_Mutation SNP C G G TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr12:95535241C>G uc001tdp.3 - 6 2984 c.2760G>C c.(2758-2760)CAG>CAC p.Q920H FGD6_uc009zsx.2_Missense_Mutation_p.Q53H NM_018351 NP_060821 Q6ZV73 FGD6_HUMAN FYVE, RhoGEF and PH domain containing 6 920 DH. actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(2)|breast(1) 3 AGTATAGGATCTGATTTAGAA 0.458 12 26 --- --- --- --- PASS TDG 6996 broad.mit.edu 37 12 104376576 104376576 + Splice_Site SNP G A A TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr12:104376576G>A uc001tkg.2 + 5 702 c.479_splice c.e5-1 p.W160_splice TDG_uc009zuk.2_Splice_Site_p.W156_splice|TDG_uc010swi.1_Splice_Site_p.W17_splice|TDG_uc010swj.1_Splice_Site NM_003211 NP_003202 Q13569 TDG_HUMAN thymine-DNA glycosylase depyrimidination|mismatch repair nucleoplasm damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity p.?(1) ovary(3)|lung(3) 6 BRCA - Breast invasive adenocarcinoma(302;0.00114) TCATTTTACAGGGAAGTGTTT 0.249 BER_DNA_glycosylases 21 68 --- --- --- --- PASS NUAK1 9891 broad.mit.edu 37 12 106460732 106460732 + Missense_Mutation SNP C A A TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr12:106460732C>A uc001tlj.1 - 7 3214 c.1834G>T c.(1834-1836)GAC>TAC p.D612Y NM_014840 NP_055655 O60285 NUAK1_HUMAN AMPK-related protein kinase 5 612 ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity ovary(1)|central_nervous_system(1) 2 CCCTCAAAGTCCTGGATCTGG 0.607 5 37 --- --- --- --- PASS IFT81 28981 broad.mit.edu 37 12 110655915 110655915 + Missense_Mutation SNP T C C TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr12:110655915T>C uc001tqi.2 + 19 2045 c.1915T>C c.(1915-1917)TGG>CGG p.W639R IFT81_uc001tqh.2_Missense_Mutation_p.W639R|IFT81_uc001tqj.2_RNA NM_001143779 NP_001137251 Q8WYA0 IFT81_HUMAN intraflagellar transport 81-like isoform 1 639 cell differentiation|multicellular organismal development|spermatogenesis intraflagellar transport particle B|microtubule-based flagellum ovary(1) 1 AGCAAAAATGTGGCGTGATTT 0.343 16 35 --- --- --- --- PASS MLXIP 22877 broad.mit.edu 37 12 122622070 122622070 + Missense_Mutation SNP C T T TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr12:122622070C>T uc001ubq.2 + 12 2087 c.2087C>T c.(2086-2088)CCC>CTC p.P696L MLXIP_uc001ubt.2_Missense_Mutation_p.P303L NM_014938 NP_055753 Q9HAP2 MLXIP_HUMAN MLX interacting protein 696 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial outer membrane|nucleus DNA binding ovary(2) 2 all_neural(191;0.0837)|Medulloblastoma(191;0.163) Lung NSC(355;0.0659) OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233) GAGCAGAGCCCCAGTCCTCAA 0.592 17 34 --- --- --- --- PASS ATP11A 23250 broad.mit.edu 37 13 113459361 113459361 + Splice_Site SNP G T T TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr13:113459361G>T uc001vsi.3 + 3 340 c.252_splice c.e3+1 p.Q84_splice ATP11A_uc001vsj.3_Splice_Site_p.Q84_splice|ATP11A_uc001vsm.1_Splice_Site NM_015205 NP_056020 P98196 AT11A_HUMAN ATPase, class VI, type 11A isoform a ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity large_intestine(2)|ovary(2) 4 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_lung(25;0.134)|all_epithelial(44;0.141) TCTGGTGCAGGTAAGGCCGGT 0.348 12 17 --- --- --- --- PASS PRMT5 10419 broad.mit.edu 37 14 23390249 23390249 + Missense_Mutation SNP C A A TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr14:23390249C>A uc001whm.1 - 17 1869 c.1778G>T c.(1777-1779)CGT>CTT p.R593L RBM23_uc001whh.2_5'Flank|RBM23_uc001whg.2_5'Flank|RBM23_uc001whi.2_5'Flank|RBM23_uc010tne.1_5'Flank|RBM23_uc001whj.2_5'Flank|RBM23_uc001whk.1_5'Flank|PRMT5_uc001whl.1_Missense_Mutation_p.R576L|PRMT5_uc010akd.1_RNA|PRMT5_uc010tnf.1_Missense_Mutation_p.R487L|PRMT5_uc010tng.1_Missense_Mutation_p.R532L|PRMT5_uc010tnh.1_Missense_Mutation_p.R549L|PRMT5_uc001whn.1_Missense_Mutation_p.R422L NM_006109 NP_006100 O14744 ANM5_HUMAN protein arginine methyltransferase 5 isoform a 593 cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent cytosol|nucleus histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding ovary(1) 1 all_cancers(95;2.76e-05) GBM - Glioblastoma multiforme(265;0.0126) TTGGCCTTCACGTACCGTTAT 0.423 4 19 --- --- --- --- PASS CDH24 64403 broad.mit.edu 37 14 23518860 23518860 + Missense_Mutation SNP T C C TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr14:23518860T>C uc001wil.2 - 11 1947 c.1687A>G c.(1687-1689)AAC>GAC p.N563D CDH24_uc001wik.3_RNA|CDH24_uc010akf.2_Missense_Mutation_p.N525D NM_022478 NP_071923 Q86UP0 CAD24_HUMAN cadherin-like 24 isoform 1 563 Cadherin 5.|Extracellular (Potential). adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion cell-cell junction|cell-cell junction|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding central_nervous_system(1) 1 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.00654) ACAGTAAAGTTGGCATCAGGG 0.577 9 21 --- --- --- --- PASS MDGA2 161357 broad.mit.edu 37 14 47351272 47351272 + Silent SNP T C C TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr14:47351272T>C uc001wwj.3 - 11 2380 c.2184A>G c.(2182-2184)TCA>TCG p.S728S MDGA2_uc001wwh.3_5'UTR|MDGA2_uc001wwi.3_Silent_p.S499S|MDGA2_uc010ani.2_Silent_p.S288S NM_001113498 NP_001106970 Q7Z553 MDGA2_HUMAN MAM domain containing 1 isoform 1 728 spinal cord motor neuron differentiation anchored to membrane|plasma membrane ovary(4)|large_intestine(1)|pancreas(1) 6 CACGAATTGTTGAATCTCCTT 0.313 6 16 --- --- --- --- PASS NAA30 122830 broad.mit.edu 37 14 57857808 57857808 + Missense_Mutation SNP G T T TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr14:57857808G>T uc001xcx.3 + 2 287 c.133G>T c.(133-135)GAC>TAC p.D45Y NAA30_uc010trk.1_Intron|NAA30_uc010aow.2_Intron NM_001011713 NP_001011713 Q147X3 NAA30_HUMAN N-acetyltransferase 12 45 cytoplasm peptide alpha-N-acetyltransferase activity skin(1) 1 CGAGGAGGACGACGAAGAGCA 0.776 5 9 --- --- --- --- PASS MLH3 27030 broad.mit.edu 37 14 75514257 75514257 + Missense_Mutation SNP C G G TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr14:75514257C>G uc001xrd.1 - 2 2318 c.2102G>C c.(2101-2103)AGC>ACC p.S701T MLH3_uc001xre.1_Missense_Mutation_p.S701T|MLH3_uc010tuy.1_RNA NM_001040108 NP_001035197 Q9UHC1 MLH3_HUMAN mutL homolog 3 isoform 1 701 mismatch repair|reciprocal meiotic recombination chiasma|MutLbeta complex|synaptonemal complex ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(234;0.00688) TGATTTTTTGCTACCTTCCTG 0.348 MMR 23 52 --- --- --- --- PASS COX8C 341947 broad.mit.edu 37 14 93814406 93814406 + Silent SNP G A A TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr14:93814406G>A uc001ybt.1 + 2 237 c.159G>A c.(157-159)ACG>ACA p.T53T KIAA1409_uc001ybs.1_Intron NM_182971 NP_892016 Q7Z4L0 COX8C_HUMAN cytochrome c oxidase subunit VIIIc 53 Helical; (By similarity). integral to membrane|mitochondrial inner membrane cytochrome-c oxidase activity 0 all_cancers(154;0.083) Epithelial(152;0.176)|all cancers(159;0.197)|COAD - Colon adenocarcinoma(157;0.202) TGTTTTTTACGACCTTCTTAA 0.453 8 39 --- --- --- --- PASS SERPINA4 5267 broad.mit.edu 37 14 95030027 95030027 + Missense_Mutation SNP A T T TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr14:95030027A>T uc001ydk.2 + 2 274 c.208A>T c.(208-210)ACC>TCC p.T70S SERPINA4_uc010avd.2_Missense_Mutation_p.T107S|SERPINA4_uc001ydl.2_Missense_Mutation_p.T70S NM_006215 NP_006206 P29622 KAIN_HUMAN serine (or cysteine) proteinase inhibitor, clade 70 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity ovary(3)|skin(1) 4 COAD - Colon adenocarcinoma(157;0.211) CGCTTCGGAGACCCCGGGGAA 0.602 17 36 --- --- --- --- PASS DYNC1H1 1778 broad.mit.edu 37 14 102483190 102483190 + Missense_Mutation SNP G A A TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr14:102483190G>A uc001yks.2 + 38 7866 c.7702G>A c.(7702-7704)GTC>ATC p.V2568I DYNC1H1_uc001ykt.1_Missense_Mutation_p.V59I NM_001376 NP_001367 Q14204 DYHC1_HUMAN cytoplasmic dynein 1 heavy chain 1 2568 AAA 3 (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding ovary(7)|central_nervous_system(2)|pancreas(1) 10 CCCTGATGTCGTCGTGCCAAC 0.607 7 14 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106667768 106667768 + RNA SNP C A A TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr14:106667768C>A uc010tyt.1 - 877 c.22097G>T Parts of antibodies, mostly variable regions. 0 TTGGCGGACCCAGCTCATGCC 0.577 23 81 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 107131102 107131102 + RNA SNP G T T TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr14:107131102G>T uc010tyt.1 - 63 c.3408C>A Parts of antibodies, mostly variable regions. 0 GCGTGTTCTTGGAATTGTCTC 0.527 28 121 --- --- --- --- PASS MKRN3 7681 broad.mit.edu 37 15 23812324 23812324 + Silent SNP T G G TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr15:23812324T>G uc001ywh.3 + 1 1871 c.1395T>G c.(1393-1395)CTT>CTG p.L465L MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Intron NM_005664 NP_005655 Q13064 MKRN3_HUMAN makorin ring finger protein 3 465 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) AGAAGGAGCTTGTCGTGCTTC 0.507 22 52 --- --- --- --- PASS APBA2 321 broad.mit.edu 37 15 29393827 29393827 + Missense_Mutation SNP G A A rs142481200 TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr15:29393827G>A uc001zck.2 + 9 1571 c.1364G>A c.(1363-1365)CGT>CAT p.R455H APBA2_uc010azj.2_Missense_Mutation_p.R443H|APBA2_uc010uat.1_Missense_Mutation_p.R443H|APBA2_uc001zcl.2_Missense_Mutation_p.R443H|APBA2_uc001zcm.1_Missense_Mutation_p.R147H NM_005503 NP_005494 Q99767 APBA2_HUMAN amyloid beta A4 precursor protein-binding, 455 PID. nervous system development|protein transport protein binding 0 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) CACGCCTTGCGTACCATCTCC 0.552 3 9 --- --- --- --- PASS TJP1 7082 broad.mit.edu 37 15 30092866 30092866 + Missense_Mutation SNP T C C TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr15:30092866T>C uc001zcr.2 - 2 542 c.67A>G c.(67-69)ACA>GCA p.T23A TJP1_uc010azl.2_Missense_Mutation_p.T11A|TJP1_uc001zcq.2_Missense_Mutation_p.T27A|TJP1_uc001zcs.2_Missense_Mutation_p.T23A NM_003257 NP_003248 Q07157 ZO1_HUMAN tight junction protein 1 isoform a 23 PDZ 1. cell-cell junction assembly|cellular component disassembly involved in apoptosis basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction ovary(4)|central_nervous_system(1)|pancreas(1) 6 all_lung(180;7.48e-11)|Breast(32;0.000153) all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186) AGCGTCACTGTATGTTGTTCC 0.373 12 41 --- --- --- --- PASS RYR3 6263 broad.mit.edu 37 15 33955095 33955095 + Missense_Mutation SNP G T T TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr15:33955095G>T uc001zhi.2 + 35 5434 c.5364G>T c.(5362-5364)GAG>GAT p.E1788D RYR3_uc010bar.2_Missense_Mutation_p.E1788D NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 1788 4 X approximate repeats.|Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CCGGCAAGGAGGCTCCTGTCA 0.567 32 109 --- --- --- --- PASS ACTC1 70 broad.mit.edu 37 15 35084669 35084669 + Missense_Mutation SNP C A A TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr15:35084669C>A uc001ziu.1 - 4 799 c.556G>T c.(556-558)GAC>TAC p.D186Y uc001zit.1_Intron NM_005159 NP_005150 P68032 ACTC_HUMAN cardiac muscle alpha actin 1 proprotein 186 apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly actomyosin, actin part|cytosol|I band ATP binding|ATPase activity|myosin binding upper_aerodigestive_tract(1)|ovary(1) 2 all_lung(180;2.3e-08) all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244) TCAGTGAGGTCCCGACCAGCC 0.542 12 23 --- --- --- --- PASS EIF2AK4 440275 broad.mit.edu 37 15 40322614 40322614 + Missense_Mutation SNP C T T TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr15:40322614C>T uc001zkm.1 + 35 4666 c.4616C>T c.(4615-4617)CCG>CTG p.P1539L EIF2AK4_uc010bbj.1_Missense_Mutation_p.P1240L|EIF2AK4_uc001zkn.1_Missense_Mutation_p.P639L|EIF2AK4_uc001zko.1_Missense_Mutation_p.P420L|EIF2AK4_uc010bbk.1_RNA NM_001013703 NP_001013725 Q9P2K8 E2AK4_HUMAN eukaryotic translation initiation factor 2 alpha 1539 translation cytosolic ribosome aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity lung(2)|stomach(1)|skin(1) 4 all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616) GTGCTAGCCCCGGAGAAGCTG 0.468 OREG0023054 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 17 --- --- --- --- PASS INO80 54617 broad.mit.edu 37 15 41308393 41308393 + Missense_Mutation SNP C T T TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr15:41308393C>T uc001zni.2 - 27 3508 c.3295G>A c.(3295-3297)GAC>AAC p.D1099N INO80_uc010ucu.1_Intron NM_017553 NP_060023 Q9ULG1 INO80_HUMAN INO80 complex homolog 1 1099 Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2. cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair Ino80 complex|microtubule actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity ovary(2)|pancreas(1)|skin(1) 4 TTTCCACTGTCAGTGATGAGG 0.493 7 22 --- --- --- --- PASS UNC13C 440279 broad.mit.edu 37 15 54624308 54624308 + Missense_Mutation SNP G A A TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr15:54624308G>A uc002ack.2 + 13 4493 c.4493G>A c.(4492-4494)AGG>AAG p.R1498K UNC13C_uc002acl.2_Missense_Mutation_p.R328K NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 1498 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) TCAAAGTATAGGGTATGTACA 0.313 2 4 --- --- --- --- PASS PIAS1 8554 broad.mit.edu 37 15 68434669 68434669 + Missense_Mutation SNP A C C TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr15:68434669A>C uc002aqz.2 + 4 692 c.596A>C c.(595-597)CAG>CCG p.Q199P PIAS1_uc010ujx.1_Missense_Mutation_p.Q199P NM_016166 NP_057250 O75925 PIAS1_HUMAN protein inhibitor of activated STAT, 1 199 PINIT. androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent nuclear speck androgen receptor binding|DNA binding|enzyme binding|SUMO ligase activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(1)|lung(1) 2 GTACAGGTCCAGTTAAGGTAC 0.358 5 10 --- --- --- --- PASS PARP6 56965 broad.mit.edu 37 15 72534978 72534978 + Missense_Mutation SNP T C C TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr15:72534978T>C uc002auc.2 - 20 2083 c.1624A>G c.(1624-1626)ATG>GTG p.M542V PARP6_uc002aua.2_Missense_Mutation_p.M388V|PARP6_uc002aub.2_RNA|PARP6_uc002aud.3_RNA|PARP6_uc002auf.1_Missense_Mutation_p.M543V NM_020214 NP_064599 Q2NL67 PARP6_HUMAN poly (ADP-ribose) polymerase family, member 6 542 PARP catalytic. NAD+ ADP-ribosyltransferase activity 0 ATGGTATTCATCCTGTTGTAT 0.473 23 33 --- --- --- --- PASS NEIL1 79661 broad.mit.edu 37 15 75647319 75647319 + Missense_Mutation SNP C T T TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr15:75647319C>T uc002bad.2 + 10 1623 c.1117C>T c.(1117-1119)CGG>TGG p.R373W NEIL1_uc002bae.2_Missense_Mutation_p.R459W|MIR631_hsa-mir-631|MI0003645_5'Flank NM_024608 NP_078884 Q96FI4 NEIL1_HUMAN nei endonuclease VIII-like 1 373 base-excision repair|negative regulation of nuclease activity|nucleotide-excision repair|response to oxidative stress cytoplasm|nucleus damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|protein C-terminus binding|zinc ion binding ovary(1) 1 CTGCAGACCCCGGAAGGTCAA 0.572 BER_DNA_glycosylases 6 10 --- --- --- --- PASS ACD 65057 broad.mit.edu 37 16 67694091 67694091 + Silent SNP G A A TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr16:67694091G>A uc002etq.3 - 1 628 c.291C>T c.(289-291)CCC>CCT p.P97P ACD_uc002etp.3_Silent_p.P97P|ACD_uc002etr.3_Silent_p.P97P|ACD_uc010vjt.1_Silent_p.P87P|PARD6A_uc002ets.2_5'Flank|PARD6A_uc002ett.2_5'Flank|PARD6A_uc002etu.2_5'Flank NM_001082486 NP_001075955 Q96AP0 ACD_HUMAN adrenocortical dysplasia homolog isoform 1 97 PWI. 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) CCCGAATCCAGGGCCGTAGGA 0.701 15 38 --- --- --- --- PASS GLG1 2734 broad.mit.edu 37 16 74519807 74519807 + Silent SNP T A A rs76382044 byFrequency TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr16:74519807T>A uc002fcy.3 - 9 1508 c.1458A>T c.(1456-1458)ACA>ACT p.T486T GLG1_uc002fcx.2_Silent_p.T486T|GLG1_uc002fcw.3_Silent_p.T475T|GLG1_uc002fcz.3_Intron NM_001145667 NP_001139139 Q92896 GSLG1_HUMAN golgi apparatus protein 1 isoform 3 486 Extracellular (Potential).|Cys-rich GLG1 7. Golgi membrane|integral to membrane receptor binding ovary(1)|breast(1) 2 CCTGAATCAGTGTTTGAAGCT 0.393 8 30 --- --- --- --- PASS CNTNAP4 85445 broad.mit.edu 37 16 76556015 76556015 + Missense_Mutation SNP C A A TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr16:76556015C>A uc002feu.1 + 19 3001 c.2616C>A c.(2614-2616)AAC>AAA p.N872K CNTNAP4_uc002fev.1_Missense_Mutation_p.N736K|CNTNAP4_uc010chb.1_Missense_Mutation_p.N799K|CNTNAP4_uc002fex.1_Missense_Mutation_p.N875K NM_033401 NP_207837 Q9C0A0 CNTP4_HUMAN cell recognition protein CASPR4 isoform 1 872 Extracellular (Potential).|Laminin G-like 3. cell adhesion|signal transduction integral to membrane receptor binding ovary(1)|pancreas(1) 2 CCCACTTCAACGACAACCAGT 0.502 27 57 --- --- --- --- PASS ADAMTS18 170692 broad.mit.edu 37 16 77369771 77369771 + Missense_Mutation SNP C A A TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr16:77369771C>A uc002ffc.3 - 12 2160 c.1741G>T c.(1741-1743)GGG>TGG p.G581W ADAMTS18_uc010chc.1_Missense_Mutation_p.G169W|ADAMTS18_uc002ffe.1_Missense_Mutation_p.G277W NM_199355 NP_955387 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 581 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1) 18 CCGAGCTCCCCAAACTTTACG 0.597 25 86 --- --- --- --- PASS GALNS 2588 broad.mit.edu 37 16 88902186 88902186 + Silent SNP C A A TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr16:88902186C>A uc002fly.3 - 7 794 c.705G>T c.(703-705)ACG>ACT p.T235T GALNS_uc010cid.2_Silent_p.T241T|GALNS_uc002flz.3_5'UTR NM_000512 NP_000503 P34059 GALNS_HUMAN galactosamine (N-acetyl)-6-sulfate sulfatase 235 lysosome metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity large_intestine(2) 2 BRCA - Breast invasive adenocarcinoma(80;0.0496) Hyaluronidase(DB00070) CGGGTGCGTGCGTGGCGTCGA 0.617 9 36 --- --- --- --- PASS ALOX15 246 broad.mit.edu 37 17 4536516 4536516 + Missense_Mutation SNP G A A TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr17:4536516G>A uc002fyh.2 - 10 1357 c.1343C>T c.(1342-1344)GCC>GTC p.A448V ALOX15_uc010vsd.1_Missense_Mutation_p.A409V|ALOX15_uc010vse.1_Missense_Mutation_p.A470V NM_001140 NP_001131 P16050 LOX15_HUMAN arachidonate 15-lipoxygenase 448 Lipoxygenase. inflammatory response|leukotriene biosynthetic process nucleus arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity skin(3)|ovary(1)|lung(1) 5 READ - Rectum adenocarcinoma(115;0.0327) Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744) CCCCCGGTCGGCCAAGTCATC 0.592 3 17 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7578188 7578188 + Nonsense_Mutation SNP C A A TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr17:7578188C>A uc002gim.2 - 6 855 c.661G>T c.(661-663)GAG>TAG p.E221* TP53_uc002gig.1_Nonsense_Mutation_p.E221*|TP53_uc002gih.2_Nonsense_Mutation_p.E221*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.E89*|TP53_uc010cng.1_Nonsense_Mutation_p.E89*|TP53_uc002gii.1_Nonsense_Mutation_p.E89*|TP53_uc010cnh.1_Nonsense_Mutation_p.E221*|TP53_uc010cni.1_Nonsense_Mutation_p.E221*|TP53_uc002gij.2_Nonsense_Mutation_p.E221*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.E128*|TP53_uc002gio.2_Nonsense_Mutation_p.E89*|TP53_uc010vug.1_Nonsense_Mutation_p.E182* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 221 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> A (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(7)|p.E221*(5)|p.E221fs*4(3)|p.E221G(2)|p.E221K(2)|p.E221D(2)|p.E221fs*26(2)|p.E221E(2)|p.Y220_P223delYEPP(1)|p.?(1)|p.E221fs*2(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y220fs*25(1)|p.V218fs*26(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TCAGGCGGCTCATAGGGCACC 0.552 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 4 9 --- --- --- --- PASS MAP2K4 6416 broad.mit.edu 37 17 12044544 12044544 + Silent SNP A T T TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr17:12044544A>T uc002gnj.2 + 11 1236 c.1167A>T c.(1165-1167)CCA>CCT p.P389P MAP2K4_uc002gnk.2_Silent_p.P400P|MAP2K4_uc010vvi.1_Silent_p.P271P|MAP2K4_uc010vvj.1_Silent_p.P261P NM_003010 NP_003001 P45985 MP2K4_HUMAN mitogen-activated protein kinase kinase 4 389 cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.?(2) large_intestine(14)|breast(12)|lung(8)|ovary(8)|pancreas(8)|stomach(2)|central_nervous_system(1)|biliary_tract(1)|testis(1)|endometrium(1)|urinary_tract(1)|skin(1) 58 all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163) Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681) ATCAAATGCCAGCTACTCCCA 0.413 D|Mis|N pancreatic|breast|colorectal 12 39 --- --- --- --- PASS MYO15A 51168 broad.mit.edu 37 17 18039093 18039093 + Missense_Mutation SNP G C C TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr17:18039093G>C uc010vxh.1 + 12 4889 c.4551G>C c.(4549-4551)CAG>CAC p.Q1517H NM_016239 NP_057323 Q9UKN7 MYO15_HUMAN myosin XV 1517 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1) 9 all_neural(463;0.228) AGCTGCTGCAGATCTCCCCTG 0.567 5 10 --- --- --- --- PASS ITGB3 3690 broad.mit.edu 37 17 45361811 45361811 + Missense_Mutation SNP G T T TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr17:45361811G>T uc002ilj.2 + 4 384 c.364G>T c.(364-366)GAT>TAT p.D122Y ITGB3_uc002ili.1_Missense_Mutation_p.D122Y|ITGB3_uc010wkr.1_RNA NM_000212 NP_000203 P05106 ITB3_HUMAN integrin beta chain, beta 3 precursor 122 Extracellular (Potential). activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding central_nervous_system(5)|large_intestine(1) 6 Abciximab(DB00054)|Tirofiban(DB00775) CCTTCCAGATGATTCGAAGAA 0.418 9 27 --- --- --- --- PASS MPO 4353 broad.mit.edu 37 17 56348155 56348155 + Silent SNP G T T TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr17:56348155G>T uc002ivu.1 - 12 2277 c.2100C>A c.(2098-2100)CCC>CCA p.P700P NM_000250 NP_000241 P05164 PERM_HUMAN myeloperoxidase 700 anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling extracellular space|lysosome|nucleus|stored secretory granule chromatin binding|heme binding|heparin binding|peroxidase activity ovary(2)|large_intestine(1)|pancreas(1) 4 Cefdinir(DB00535) AGATGATCCGGGGCAATGAGA 0.547 10 26 --- --- --- --- PASS TRIM47 91107 broad.mit.edu 37 17 73871553 73871553 + Missense_Mutation SNP C T T TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr17:73871553C>T uc002jpw.2 - 5 1231 c.1204G>A c.(1204-1206)GAT>AAT p.D402N TRIM47_uc002jpv.2_Missense_Mutation_p.D164N NM_033452 NP_258411 Q96LD4 TRI47_HUMAN tripartite motif-containing 47 402 cytoplasm|nucleus zinc ion binding ovary(2)|prostate(1)|lung(1)|breast(1) 5 Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154) GGCTCAGCATCAGCTGTAGAA 0.577 6 22 --- --- --- --- PASS SLC25A10 1468 broad.mit.edu 37 17 79686879 79686879 + Missense_Mutation SNP G C C TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr17:79686879G>C uc002kbi.2 + 10 810 c.724G>C c.(724-726)GTG>CTG p.V242L SLC25A10_uc010wut.1_Missense_Mutation_p.V397L|SLC25A10_uc010dif.2_Missense_Mutation_p.V251L|SLC25A10_uc010wuu.1_Missense_Mutation_p.V196L NM_012140 NP_036272 Q9UBX3 DIC_HUMAN solute carrier family 25 (mitochondrial carrier; 242 Solcar 3. gluconeogenesis|mitochondrial transport integral to membrane|mitochondrial inner membrane|nucleus protein binding 0 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23) BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955) Succinic acid(DB00139) CCACTGCGCCGTGGAGACAGC 0.602 54 172 --- --- --- --- PASS EPB41L3 23136 broad.mit.edu 37 18 5419875 5419875 + Silent SNP C T T rs11661706 TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr18:5419875C>T uc002kmt.1 - 12 1427 c.1341G>A c.(1339-1341)GAG>GAA p.E447E EPB41L3_uc010wzh.1_Silent_p.E465E|EPB41L3_uc002kmu.1_Silent_p.E465E|EPB41L3_uc010dkq.1_Silent_p.E356E|EPB41L3_uc002kms.1_5'UTR|EPB41L3_uc010wze.1_5'UTR|EPB41L3_uc010wzf.1_5'UTR|EPB41L3_uc010wzg.1_5'UTR|EPB41L3_uc010dkr.2_Silent_p.E26E NM_012307 NP_036439 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 447 Hydrophilic. cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity ovary(5) 5 CAGTACCAACCTCTGCAGCAG 0.328 10 56 --- --- --- --- PASS DSG2 1829 broad.mit.edu 37 18 29125885 29125885 + Missense_Mutation SNP G C C TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr18:29125885G>C uc002kwu.3 + 15 2724 c.2536G>C c.(2536-2538)GAT>CAT p.D846H uc002kwv.3_Intron NM_001943 NP_001934 Q14126 DSG2_HUMAN desmoglein 2 preproprotein 846 Cytoplasmic (Potential). cellular component disassembly involved in apoptosis|homophilic cell adhesion desmosome|integral to membrane calcium ion binding central_nervous_system(5)|ovary(2)|breast(1)|skin(1) 9 OV - Ovarian serous cystadenocarcinoma(10;0.0068) TCAAAAAATAGATATAAATAA 0.373 19 66 --- --- --- --- PASS SMAD4 4089 broad.mit.edu 37 18 48604789 48604789 + Missense_Mutation SNP C A A TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr18:48604789C>A uc010xdp.1 + 12 2149 c.1611C>A c.(1609-1611)GAC>GAA p.D537E SMAD4_uc002lfb.3_Missense_Mutation_p.D382E NM_005359 NP_005350 Q13485 SMAD4_HUMAN mothers against decapentaplegic homolog 4 537 MH2. BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(35)|p.D537Y(2)|p.?(2)|p.L536fs*11(1)|p.L536fs*14(1) pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1) 369 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) AGCTCCTAGACGAAGTACTTC 0.483 Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia 5 24 --- --- --- --- PASS NARS 4677 broad.mit.edu 37 18 55270082 55270082 + Missense_Mutation SNP T C C TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr18:55270082T>C uc002lgs.2 - 12 1573 c.1345A>G c.(1345-1347)ATG>GTG p.M449V NARS_uc002lgt.2_Missense_Mutation_p.M448V|NARS_uc010xea.1_Missense_Mutation_p.M200V NM_004539 NP_004530 O43776 SYNC_HUMAN asparaginyl-tRNA synthetase 449 asparaginyl-tRNA aminoacylation cytosol|soluble fraction asparagine-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding 0 Colorectal(73;0.227) L-Asparagine(DB00174) CATCGCTGCATGTAGAAGGAC 0.438 13 27 --- --- --- --- PASS ALPK2 115701 broad.mit.edu 37 18 56203604 56203604 + Missense_Mutation SNP A G G TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr18:56203604A>G uc002lhj.3 - 5 4029 c.3815T>C c.(3814-3816)GTC>GCC p.V1272A ALPK2_uc002lhk.1_Missense_Mutation_p.V603A NM_052947 NP_443179 Q86TB3 ALPK2_HUMAN heart alpha-kinase 1272 ATP binding|protein serine/threonine kinase activity ovary(7)|skin(5)|lung(1)|central_nervous_system(1) 14 TACAGCCCAGACCTTGTCAGG 0.498 37 52 --- --- --- --- PASS CDH7 1005 broad.mit.edu 37 18 63477081 63477081 + Missense_Mutation SNP T C C TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr18:63477081T>C uc002ljz.2 + 3 677 c.352T>C c.(352-354)TAC>CAC p.Y118H CDH7_uc002lka.2_Missense_Mutation_p.Y118H|CDH7_uc002lkb.2_Missense_Mutation_p.Y118H NM_033646 NP_387450 Q9ULB5 CADH7_HUMAN cadherin 7, type 2 preproprotein 118 Extracellular (Potential).|Cadherin 1. 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) GCAGGCCTACTACACGCTCCG 0.502 17 23 --- --- --- --- PASS TMEM38A 79041 broad.mit.edu 37 19 16791277 16791277 + Silent SNP C T T TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr19:16791277C>T uc002nes.2 + 3 442 c.351C>T c.(349-351)ATC>ATT p.I117I NM_024074 NP_076979 Q9H6F2 TM38A_HUMAN transmembrane protein 38A 117 Cytoplasmic (Potential). integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane potassium channel activity central_nervous_system(2)|ovary(1) 3 TGAAACTCATCTTCGTGGCCA 0.552 55 87 --- --- --- --- PASS B3GNT3 10331 broad.mit.edu 37 19 17918639 17918639 + Missense_Mutation SNP G C C TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr19:17918639G>C uc002nhk.1 + 2 108 c.23G>C c.(22-24)CGG>CCG p.R8P B3GNT3_uc002nhl.1_Missense_Mutation_p.R8P|B3GNT3_uc010ebd.1_Missense_Mutation_p.R8P|B3GNT3_uc010ebe.1_Missense_Mutation_p.R8P NM_014256 NP_055071 Q9Y2A9 B3GN3_HUMAN UDP-GlcNAc:betaGal 8 Cytoplasmic (Potential). protein glycosylation Golgi membrane|integral to plasma membrane galactosyltransferase activity upper_aerodigestive_tract(1) 1 CGGCACCGGCGGCCCAATGCC 0.572 8 32 --- --- --- --- PASS PLEKHG2 64857 broad.mit.edu 37 19 39912892 39912892 + Silent SNP G T T TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr19:39912892G>T uc010xuz.1 + 17 1966 c.1641G>T c.(1639-1641)CTG>CTT p.L547L PLEKHG2_uc010xuy.1_Silent_p.L488L|PLEKHG2_uc002olj.2_Silent_p.L547L|PLEKHG2_uc010xva.1_Silent_p.L325L NM_022835 NP_073746 Q9H7P9 PKHG2_HUMAN common-site lymphoma/leukemia guanine nucleotide 547 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity skin(2)|pancreas(1)|breast(1) 4 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) AAGAAATCCTGGAACTGCTGA 0.607 5 14 --- --- --- --- PASS ZFP112 7771 broad.mit.edu 37 19 44844689 44844689 + Missense_Mutation SNP C A A TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr19:44844689C>A uc010ejj.2 - 3 134 c.21G>T c.(19-21)ATG>ATT p.M7I ZFP112_uc002ozc.3_Missense_Mutation_p.M1I|ZFP112_uc010xwy.1_Missense_Mutation_p.M24I|ZFP112_uc010xwz.1_Missense_Mutation_p.M6I NM_001083335 NP_001076804 Q9UJU3 ZF112_HUMAN zinc finger protein 228 isoform 1 7 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(2) 5 TGAATGTCACCATCTCCTACA 0.507 25 50 --- --- --- --- PASS ZNF616 90317 broad.mit.edu 37 19 52618360 52618360 + Missense_Mutation SNP T A A TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr19:52618360T>A uc002pym.2 - 4 2340 c.2057A>T c.(2056-2058)AAG>ATG p.K686M ZNF616_uc002pyn.2_RNA NM_178523 NP_848618 Q08AN1 ZN616_HUMAN zinc finger protein 616 686 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189) ATATGGTTTCTTTCCTGCATG 0.393 36 112 --- --- --- --- PASS KIR3DX1 90011 broad.mit.edu 37 19 55048148 55048148 + Nonsense_Mutation SNP A T T TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr19:55048148A>T uc010erm.2 + 1 28 c.16A>T c.(16-18)AAG>TAG p.K6* KIR3DX1_uc010yfa.1_RNA|KIR3DX1_uc010yfb.1_RNA|KIR3DX1_uc010yfc.1_RNA|KIR3DX1_uc010yfd.1_RNA Homo sapiens killer cell immunoglobulin-like receptor, three domains, X1, mRNA (cDNA clone IMAGE:4849085). ovary(1) 1 GBM - Glioblastoma multiforme(193;0.099) GCTGGGAGAGAAGTTGACCCT 0.502 OREG0003665 type=REGULATORY REGION|Gene=BC033195|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 6 23 --- --- --- --- PASS ANGPT4 51378 broad.mit.edu 37 20 853651 853651 + Silent SNP G A A TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr20:853651G>A uc002wei.2 - 9 1567 c.1464C>T c.(1462-1464)AGC>AGT p.S488S ANGPT4_uc010zpn.1_3'UTR NM_015985 NP_057069 Q9Y264 ANGP4_HUMAN angiopoietin 4 precursor 488 Fibrinogen C-terminal. anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction extracellular space receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity ovary(2) 2 GCAGTGAGTAGCTGGGGCCCT 0.582 8 36 --- --- --- --- PASS PLCB4 5332 broad.mit.edu 37 20 9434026 9434026 + Silent SNP G A A TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr20:9434026G>A uc002wnf.2 + 31 3013 c.2877G>A c.(2875-2877)ACG>ACA p.T959T PLCB4_uc010gbw.1_Silent_p.T959T|PLCB4_uc010gbx.2_Silent_p.T971T|PLCB4_uc002wne.2_Silent_p.T959T|PLCB4_uc002wnh.2_Silent_p.T806T NM_182797 NP_877949 Q15147 PLCB4_HUMAN phospholipase C beta 4 isoform b 959 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity skin(11)|ovary(3)|pancreas(1) 15 TACACTGCACGCAAGTTGACA 0.418 11 18 --- --- --- --- PASS ZNFX1 57169 broad.mit.edu 37 20 47887968 47887968 + Missense_Mutation SNP C A A TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr20:47887968C>A uc002xui.2 - 3 628 c.381G>T c.(379-381)TGG>TGT p.W127C NM_021035 NP_066363 Q9P2E3 ZNFX1_HUMAN zinc finger, NFX1-type containing 1 127 metal ion binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GGGGAGTCCGCCACTGCTGGA 0.527 47 139 --- --- --- --- PASS ZNFX1 57169 broad.mit.edu 37 20 47887969 47887969 + Missense_Mutation SNP C A A TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr20:47887969C>A uc002xui.2 - 3 627 c.380G>T c.(379-381)TGG>TTG p.W127L NM_021035 NP_066363 Q9P2E3 ZNFX1_HUMAN zinc finger, NFX1-type containing 1 127 metal ion binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GGGAGTCCGCCACTGCTGGAA 0.527 46 135 --- --- --- --- PASS TPTE 7179 broad.mit.edu 37 21 10914394 10914394 + Missense_Mutation SNP A G G TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr21:10914394A>G uc002yip.1 - 21 1693 c.1325T>C c.(1324-1326)GTC>GCC p.V442A TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.V424A|TPTE_uc002yir.1_Missense_Mutation_p.V404A|TPTE_uc010gkv.1_Missense_Mutation_p.V304A NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 442 C2 tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) AGTGGAAAAGACAACCTTTTT 0.323 4 44 --- --- --- --- PASS TIAM1 7074 broad.mit.edu 37 21 32598070 32598070 + Nonsense_Mutation SNP G C C TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr21:32598070G>C uc002yow.1 - 8 2253 c.1781C>G c.(1780-1782)TCA>TGA p.S594* TIAM1_uc011adk.1_Nonsense_Mutation_p.S594*|TIAM1_uc011adl.1_Nonsense_Mutation_p.S594*|TIAM1_uc002yox.1_Nonsense_Mutation_p.S202* NM_003253 NP_003244 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 594 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity lung(3)|breast(3)|ovary(2)|large_intestine(2) 10 CTTTTTCTTTGAGTCAGTGAC 0.358 25 64 --- --- --- --- PASS USP18 11274 broad.mit.edu 37 22 18650677 18650677 + Silent SNP G T T TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr22:18650677G>T uc002zny.2 + 6 839 c.501G>T c.(499-501)CTG>CTT p.L167L NM_017414 NP_059110 Q9UMW8 UBP18_HUMAN ubiquitin specific protease 18 167 regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway|ubiquitin-dependent protein catabolic process cytosol|nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1) 1 TGCAGGCCCTGTATACGATCC 0.547 11 33 --- --- --- --- PASS MED15 51586 broad.mit.edu 37 22 20929434 20929434 + Missense_Mutation SNP A G G TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr22:20929434A>G uc002zsp.2 + 9 1267 c.1187A>G c.(1186-1188)CAC>CGC p.H396R MED15_uc002zsq.2_Intron|MED15_uc010gso.2_Intron|MED15_uc002zsr.2_Intron|MED15_uc011ahs.1_Intron|MED15_uc002zss.2_Intron|MED15_uc011ahu.1_Missense_Mutation_p.H122R|MED15_uc002zst.2_Missense_Mutation_p.H12R NM_001003891 NP_001003891 Q96RN5 MED15_HUMAN mediator complex subunit 15 isoform a 396 Pro-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding skin(1) 1 all_cancers(11;2.07e-24)|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)|Epithelial(17;0.209) GGTGGGATGCACATAAGAGCC 0.582 32 106 --- --- --- --- PASS THAP7 80764 broad.mit.edu 37 22 21355637 21355637 + Silent SNP G A A TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr22:21355637G>A uc002ztr.1 - 3 174 c.144C>T c.(142-144)CCC>CCT p.P48P THAP7_uc002zts.1_Silent_p.P48P|FLJ39582_uc002ztt.1_5'Flank|FLJ39582_uc002ztu.1_5'Flank|FLJ39582_uc002ztv.2_5'Flank NM_001008695 NP_001008695 Q9BT49 THAP7_HUMAN THAP domain containing 7 isoform 2 48 THAP-type. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck C2H2 zinc finger domain binding|DNA binding|metal ion binding|protein N-terminus binding 0 all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) CCTGGCCGCTGGGGTCCAGCC 0.617 43 124 --- --- --- --- PASS ASB9 140462 broad.mit.edu 37 X 15270382 15270382 + Missense_Mutation SNP T A A TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chrX:15270382T>A uc004cwl.2 - 4 674 c.427A>T c.(427-429)AGG>TGG p.R143W ASB9_uc004cwk.2_Missense_Mutation_p.R143W|ASB9_uc004cwm.2_Missense_Mutation_p.R143W|ASB9_uc010ner.2_Missense_Mutation_p.R143W|ASB9_uc004cwn.2_Missense_Mutation_p.R114W NM_001031739 NP_001026909 Q96DX5 ASB9_HUMAN ankyrin repeat and SOCS box-containing 9 isoform 143 ANK 4. intracellular signal transduction 0 Hepatocellular(33;0.183) TTACCTCTCCTAGCAGCTTCA 0.443 10 25 --- --- --- --- PASS CNKSR2 22866 broad.mit.edu 37 X 21627564 21627564 + Nonsense_Mutation SNP A T T TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chrX:21627564A>T uc004czx.1 + 20 2557 c.2521A>T c.(2521-2523)AAG>TAG p.K841* CNKSR2_uc004czw.2_Nonsense_Mutation_p.K841*|CNKSR2_uc011mjn.1_Nonsense_Mutation_p.K792*|CNKSR2_uc011mjo.1_Nonsense_Mutation_p.K811*|CNKSR2_uc004czy.2_Nonsense_Mutation_p.K433* NM_014927 NP_055742 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 841 regulation of signal transduction cytoplasm|membrane protein binding large_intestine(1)|lung(1) 2 AAATGGGGGCAAGCCTCGAAG 0.532 16 44 --- --- --- --- PASS DDX53 168400 broad.mit.edu 37 X 23019932 23019932 + Silent SNP G T T TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chrX:23019932G>T uc004daj.2 + 1 1846 c.1758G>T c.(1756-1758)CTG>CTT p.L586L NM_182699 NP_874358 Q86TM3 DDX53_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 586 Helicase C-terminal. nucleus ATP binding|ATP-dependent helicase activity|RNA binding large_intestine(1)|ovary(1)|kidney(1) 3 TTAAAATTCTGGACAGAGCAA 0.423 15 55 --- --- --- --- PASS PTCHD1 139411 broad.mit.edu 37 X 23397917 23397917 + Nonsense_Mutation SNP C A A TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chrX:23397917C>A uc004dal.3 + 2 569 c.561C>A c.(559-561)TAC>TAA p.Y187* PTCHD1_uc010nfu.1_Nonsense_Mutation_p.Y187* NM_173495 NP_775766 Q96NR3 PTHD1_HUMAN patched domain containing 1 187 cognition|smoothened signaling pathway integral to membrane|plasma membrane hedgehog receptor activity ovary(4)|kidney(1)|skin(1) 6 GGGCTGTGTACAATGGGCACC 0.532 35 91 --- --- --- --- PASS FAM47C 442444 broad.mit.edu 37 X 37028238 37028238 + Silent SNP G A A TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chrX:37028238G>A uc004ddl.1 + 1 1769 c.1755G>A c.(1753-1755)GAG>GAA p.E585E NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN hypothetical protein LOC442444 585 ovary(3) 3 TCTGCCCAGAGCCTCCCAAGA 0.642 19 42 --- --- --- --- PASS FAM47C 442444 broad.mit.edu 37 X 37028815 37028815 + Missense_Mutation SNP C A A TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chrX:37028815C>A uc004ddl.1 + 1 2346 c.2332C>A c.(2332-2334)CTT>ATT p.L778I NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN hypothetical protein LOC442444 778 ovary(3) 3 CCACCCAGAGCTTCCCAAGCC 0.632 7 32 --- --- --- --- PASS ZNF157 7712 broad.mit.edu 37 X 47271926 47271926 + Missense_Mutation SNP C A A TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chrX:47271926C>A uc004dhr.1 + 4 523 c.454C>A c.(454-456)CGT>AGT p.R152S NM_003446 NP_003437 P51786 ZN157_HUMAN zinc finger protein 157 152 negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 CTTTGTTAGACGTAAAAGAAC 0.373 18 36 --- --- --- --- PASS SYN1 6853 broad.mit.edu 37 X 47478795 47478795 + Silent SNP G T T TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chrX:47478795G>T uc004die.2 - 1 462 c.333C>A c.(331-333)GCC>GCA p.A111A SYN1_uc004did.2_Silent_p.A111A NM_006950 NP_008881 P17600 SYN1_HUMAN synapsin I isoform Ia 111 B; linker. cell junction|Golgi apparatus actin binding|ATP binding|ligase activity|transporter activity ovary(1) 1 CCCTGGAGGCGGCTCCCCCGC 0.716 3 7 --- --- --- --- PASS CLCN5 1184 broad.mit.edu 37 X 49855383 49855383 + Nonsense_Mutation SNP G T T TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chrX:49855383G>T uc004dos.1 + 11 2238 c.1990G>T c.(1990-1992)GAG>TAG p.E664* CLCN5_uc004dor.1_Nonsense_Mutation_p.E734*|CLCN5_uc004doq.1_Nonsense_Mutation_p.E734*|CLCN5_uc004dot.1_Nonsense_Mutation_p.E664* NM_000084 NP_000075 P51795 CLCN5_HUMAN chloride channel 5 isoform b 664 Cytoplasmic (By similarity). excretion apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane antiporter activity|ATP binding ovary(2)|lung(1)|central_nervous_system(1) 4 Ovarian(276;0.236) TTATTTCACGGAGCATTCTCC 0.448 6 14 --- --- --- --- PASS AKAP4 8852 broad.mit.edu 37 X 49958335 49958335 + Missense_Mutation SNP G T T TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chrX:49958335G>T uc004dow.1 - 5 1153 c.1029C>A c.(1027-1029)GAC>GAA p.D343E AKAP4_uc004dov.1_Intron|AKAP4_uc010njp.1_Missense_Mutation_p.D165E|AKAP4_uc004dou.1_Missense_Mutation_p.D334E NM_003886 NP_003877 Q5JQC9 AKAP4_HUMAN A-kinase anchor protein 4 isoform 1 343 PKA-RI-alpha subunit binding domain (By similarity). cell projection organization|single fertilization|sperm motility cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum protein kinase A binding kidney(3)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1) 8 Ovarian(276;0.236) AGACCATCATGTCAGATGCCA 0.488 7 17 --- --- --- --- PASS CCNB3 85417 broad.mit.edu 37 X 50094328 50094328 + Missense_Mutation SNP C A A TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chrX:50094328C>A uc004dox.3 + 12 4347 c.4049C>A c.(4048-4050)TCT>TAT p.S1350Y CCNB3_uc004doy.2_Missense_Mutation_p.S1350Y|CCNB3_uc004doz.2_Missense_Mutation_p.S246Y|CCNB3_uc010njq.2_Missense_Mutation_p.S242Y|CCNB3_uc004dpa.2_Missense_Mutation_p.S189Y NM_033031 NP_149020 Q8WWL7 CCNB3_HUMAN cyclin B3 isoform 3 1350 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding ovary(4)|lung(3)|large_intestine(1)|pancreas(1) 9 Ovarian(276;0.236) ACTTTCAGTTCTTACGATAGT 0.458 51 137 --- --- --- --- PASS ARHGEF9 23229 broad.mit.edu 37 X 62857963 62857963 + Missense_Mutation SNP C T T TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chrX:62857963C>T uc004dvl.2 - 10 2335 c.1496G>A c.(1495-1497)CGC>CAC p.R499H ARHGEF9_uc004dvj.1_Missense_Mutation_p.R388H|ARHGEF9_uc004dvk.1_Missense_Mutation_p.R317H|ARHGEF9_uc011mos.1_Missense_Mutation_p.R478H|ARHGEF9_uc004dvm.1_Missense_Mutation_p.R478H|ARHGEF9_uc011mot.1_Missense_Mutation_p.R446H NM_015185 NP_056000 O43307 ARHG9_HUMAN Cdc42 guanine exchange factor 9 499 apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol Rho guanyl-nucleotide exchange factor activity ovary(5)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 8 TGACTGGCTGCGCTTGGGTTC 0.488 3 11 --- --- --- --- PASS ZMYM3 9203 broad.mit.edu 37 X 70469503 70469503 + Silent SNP G A A TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chrX:70469503G>A uc004dzh.1 - 7 1365 c.1278C>T c.(1276-1278)AGC>AGT p.S426S BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Silent_p.S426S|ZMYM3_uc004dzj.1_Silent_p.S426S|ZMYM3_uc011mpu.1_Silent_p.S157S|ZMYM3_uc004dzk.3_Silent_p.S426S|ZMYM3_uc004dzl.3_Silent_p.S426S|ZMYM3_uc004dzm.3_Silent_p.S426S NM_201599 NP_963893 Q14202 ZMYM3_HUMAN zinc finger protein 261 426 multicellular organismal development nucleus DNA binding|zinc ion binding ovary(1) 1 Renal(35;0.156) GGTGTACCACGCTGCCATTGC 0.592 3 16 --- --- --- --- PASS HDAC8 55869 broad.mit.edu 37 X 71708787 71708787 + Nonsense_Mutation SNP C A A TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chrX:71708787C>A uc004eau.2 - 7 775 c.733G>T c.(733-735)GAA>TAA p.E245* HDAC8_uc011mqe.1_Nonsense_Mutation_p.E102*|HDAC8_uc011mqf.1_Nonsense_Mutation_p.E50*|HDAC8_uc011mqg.1_Nonsense_Mutation_p.E154*|HDAC8_uc011mqh.1_Nonsense_Mutation_p.E154*|HDAC8_uc010nlk.1_Nonsense_Mutation_p.E116*|HDAC8_uc004eav.2_Nonsense_Mutation_p.E245*|HDAC8_uc004eaw.2_RNA NM_018486 NP_060956 Q9BY41 HDAC8_HUMAN histone deacetylase 8 245 Histone deacetylase. chromatin assembly or disassembly|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|histone deacetylase complex|nuclear chromosome histone deacetylase activity (H3-K16 specific)|metal ion binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding 0 Renal(35;0.156) Vorinostat(DB02546) CCATACCTTTCACAGATCTGG 0.423 21 34 --- --- --- --- PASS NAP1L2 4674 broad.mit.edu 37 X 72433074 72433074 + Missense_Mutation SNP C A A TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chrX:72433074C>A uc004ebi.2 - 1 1611 c.1255G>T c.(1255-1257)GGG>TGG p.G419W NAP1L2_uc011mqj.1_Missense_Mutation_p.G277W NM_021963 NP_068798 Q9ULW6 NP1L2_HUMAN nucleosome assembly protein 1-like 2 419 nucleosome assembly chromatin assembly complex lung(1) 1 Renal(35;0.156) CTAACTACCCCCTCCTGCTGA 0.338 7 38 --- --- --- --- PASS TSIX 9383 broad.mit.edu 37 X 73047209 73047209 + RNA SNP A T T TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chrX:73047209A>T uc004ebn.2 + 1 c.35170A>T XIST_uc004ebm.1_RNA NR_003255 Homo sapiens XIST antisense RNA (non-protein coding) (TSIX), non-coding RNA. 0 AGATAGATTCATGAAGAGGCT 0.388 7 16 --- --- --- --- PASS BRWD3 254065 broad.mit.edu 37 X 79999651 79999651 + Missense_Mutation SNP G C C TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chrX:79999651G>C uc004edt.2 - 8 956 c.693C>G c.(691-693)AAC>AAG p.N231K BRWD3_uc004edo.2_5'UTR|BRWD3_uc004edp.2_Missense_Mutation_p.N60K|BRWD3_uc004edq.2_5'UTR|BRWD3_uc010nmj.1_5'UTR|BRWD3_uc004edr.2_5'UTR|BRWD3_uc004eds.2_5'UTR|BRWD3_uc004edu.2_5'UTR|BRWD3_uc004edv.2_5'UTR|BRWD3_uc004edw.2_5'UTR|BRWD3_uc004edx.2_5'UTR|BRWD3_uc004edy.2_5'UTR|BRWD3_uc004edz.2_5'UTR|BRWD3_uc004eea.2_5'UTR|BRWD3_uc004eeb.2_Intron NM_153252 NP_694984 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 231 WD 3. ovary(4) 4 TGTTTTCATAGTTAACAGCCA 0.448 18 75 --- --- --- --- PASS PCDH11X 27328 broad.mit.edu 37 X 91134108 91134108 + Missense_Mutation SNP A C C TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chrX:91134108A>C uc004efk.1 + 2 3714 c.2869A>C c.(2869-2871)AAT>CAT p.N957H PCDH11X_uc004efl.1_Missense_Mutation_p.N957H|PCDH11X_uc004efo.1_Missense_Mutation_p.N957H|PCDH11X_uc010nmv.1_Missense_Mutation_p.N957H|PCDH11X_uc004efm.1_Missense_Mutation_p.N957H|PCDH11X_uc004efn.1_Missense_Mutation_p.N957H|PCDH11X_uc004efh.1_Missense_Mutation_p.N957H|PCDH11X_uc004efj.1_Missense_Mutation_p.N957H NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 957 Cytoplasmic (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 AACTCCCCTGAATTCGAAGCA 0.502 44 115 --- --- --- --- PASS TAF7L 54457 broad.mit.edu 37 X 100530214 100530214 + Missense_Mutation SNP T C C TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chrX:100530214T>C uc004ehb.2 - 12 1352 c.1340A>G c.(1339-1341)GAG>GGG p.E447G TAF7L_uc004eha.2_Missense_Mutation_p.E287G NM_024885 NP_079161 Q5H9L4 TAF7L_HUMAN TATA box binding protein-associated factor, RNA 447 Potential. cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter cytoplasm|transcription factor TFIID complex binding breast(1) 1 TCTTACCTTCTCATTTTTTTG 0.343 33 100 --- --- --- --- PASS TAF7L 54457 broad.mit.edu 37 X 100530223 100530223 + Missense_Mutation SNP T G G TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chrX:100530223T>G uc004ehb.2 - 12 1343 c.1331A>C c.(1330-1332)CAA>CCA p.Q444P TAF7L_uc004eha.2_Missense_Mutation_p.Q284P NM_024885 NP_079161 Q5H9L4 TAF7L_HUMAN TATA box binding protein-associated factor, RNA 444 Potential. cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter cytoplasm|transcription factor TFIID complex binding breast(1) 1 CTCATTTTTTTGTTTTTCCTG 0.323 35 101 --- --- --- --- PASS MORF4L2 9643 broad.mit.edu 37 X 102931102 102931102 + Missense_Mutation SNP C T T TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chrX:102931102C>T uc004ekw.2 - 4 2086 c.854G>A c.(853-855)CGC>CAC p.R285H MORF4L2_uc004ela.2_Missense_Mutation_p.R285H|MORF4L2_uc004ekx.2_Missense_Mutation_p.R285H|MORF4L2_uc004elb.2_Missense_Mutation_p.R285H|MORF4L2_uc004eky.2_Missense_Mutation_p.R285H|MORF4L2_uc010nos.2_Missense_Mutation_p.R285H|MORF4L2_uc004ekz.2_Missense_Mutation_p.R285H|MORF4L2_uc011mry.1_Missense_Mutation_p.R285H|MORF4L2_uc011mrz.1_Missense_Mutation_p.R285H|MORF4L2_uc004elc.2_Missense_Mutation_p.R285H|MORF4L2_uc004elf.2_Missense_Mutation_p.R285H|MORF4L2_uc004ele.2_Missense_Mutation_p.R285H|MORF4L2_uc011msa.1_Missense_Mutation_p.R285H|MORF4L2_uc011msb.1_Missense_Mutation_p.R285H|MORF4L2_uc011msc.1_Missense_Mutation_p.R285H|MORF4L2_uc011msd.1_Missense_Mutation_p.R285H|MORF4L2_uc004eld.2_Missense_Mutation_p.R285H NM_012286 NP_036418 Q15014 MO4L2_HUMAN mortality factor 4 like 2 285 chromatin modification|DNA repair|regulation of cell growth|transcription, DNA-dependent nucleolus protein binding 0 CAGGGCTTTGCGGTGGTACTC 0.388 27 98 --- --- --- --- PASS TBC1D8B 54885 broad.mit.edu 37 X 106083280 106083280 + Silent SNP G A A TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chrX:106083280G>A uc004emo.2 + 9 1521 c.1356G>A c.(1354-1356)TTG>TTA p.L452L MORC4_uc004emp.3_Intron|TBC1D8B_uc004emn.2_Silent_p.L452L NM_017752 NP_060222 Q0IIM8 TBC8B_HUMAN TBC1 domain family, member 8B (with GRAM domain) 452 intracellular calcium ion binding|Rab GTPase activator activity ovary(2)|central_nervous_system(1)|skin(1) 4 CATTACAGTTGAAAGAAAAAA 0.328 12 39 --- --- --- --- PASS UPF3B 65109 broad.mit.edu 37 X 118986836 118986836 + Missense_Mutation SNP G A A TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chrX:118986836G>A uc004erz.1 - 1 133 c.56C>T c.(55-57)CCC>CTC p.P19L UPF3B_uc004esa.1_Missense_Mutation_p.P19L NM_080632 NP_542199 Q9BZI7 REN3B_HUMAN UPF3 regulator of nonsense transcripts homolog B 19 mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription cytosol|exon-exon junction complex|nucleoplasm mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding ovary(2)|kidney(1) 3 GGCCCCGGCGGGGGTTAACAG 0.617 40 118 --- --- --- --- PASS ZNF280C 55609 broad.mit.edu 37 X 129394398 129394398 + Missense_Mutation SNP G T T TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chrX:129394398G>T uc004evm.2 - 2 180 c.26C>A c.(25-27)CCA>CAA p.P9Q ZNF280C_uc010nrf.1_Missense_Mutation_p.P9Q NM_017666 NP_060136 Q8ND82 Z280C_HUMAN zinc finger protein 280C 9 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2)|ovary(1) 3 CTTACTTTTTGGTTGAAAAGG 0.353 13 52 --- --- --- --- PASS MBNL3 55796 broad.mit.edu 37 X 131526209 131526209 + Missense_Mutation SNP C A A TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chrX:131526209C>A uc004ewv.3 - 3 575 c.496G>T c.(496-498)GCT>TCT p.A166S uc004ewr.1_Intron|MBNL3_uc004eww.2_Missense_Mutation_p.A70S|MBNL3_uc004ews.2_Missense_Mutation_p.A70S|MBNL3_uc004ewt.2_Missense_Mutation_p.A116S|MBNL3_uc011muz.1_Missense_Mutation_p.A70S|MBNL3_uc004ewu.3_Missense_Mutation_p.A166S|MBNL3_uc004ewx.1_Missense_Mutation_p.A116S NM_018388 NP_060858 Q9NUK0 MBNL3_HUMAN muscleblind-like 3 isoform G 166 Pro-rich. mRNA processing|multicellular organismal development|regulation of RNA splicing|RNA splicing Golgi apparatus|nucleus nucleic acid binding|zinc ion binding 0 Acute lymphoblastic leukemia(192;0.000127) GGGCCAACAGCTCCTGGCATT 0.423 6 45 --- --- --- --- PASS RBMX 27316 broad.mit.edu 37 X 135958741 135958741 + Silent SNP T A A TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chrX:135958741T>A uc004fae.1 - 5 672 c.462A>T c.(460-462)CCA>CCT p.P154P RBMX_uc004fac.1_5'Flank|RBMX_uc011mwf.1_Intron|RBMX_uc004fad.1_Silent_p.P154P|RBMX_uc011mwg.1_Silent_p.P115P|RBMX_uc004faf.1_Silent_p.P15P|RBMX_uc010nsf.1_Silent_p.P115P|RBMX_uc004fag.1_Silent_p.P26P NM_002139 NP_002130 P38159 HNRPG_HUMAN RNA binding motif protein, X-linked isoform 1 154 catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding ovary(1) 1 Acute lymphoblastic leukemia(192;0.000127) CACTTCTTGGTGGTGGTCCTC 0.448 32 116 --- --- --- --- PASS MIR506 574511 broad.mit.edu 37 X 146312250 146312250 + RNA SNP G T T TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chrX:146312250G>T hsa-mir-506|MI0003193 - c.112G>T 0 CACCACAAATGTTGTCCATGT 0.428 12 43 --- --- --- --- PASS MAGEA4 4103 broad.mit.edu 37 X 151092423 151092423 + Missense_Mutation SNP C A A TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chrX:151092423C>A uc004fez.2 + 3 443 c.287C>A c.(286-288)CCA>CAA p.P96Q MAGEA4_uc004ffa.2_Missense_Mutation_p.P96Q|MAGEA4_uc004ffb.2_Missense_Mutation_p.P96Q|MAGEA4_uc004ffc.2_Missense_Mutation_p.P96Q|MAGEA4_uc004ffd.2_Missense_Mutation_p.P96Q NM_002362 NP_002353 P43358 MAGA4_HUMAN melanoma antigen family A, 4 96 GP -> EA (in Ref. 3; BAA06841). protein binding ovary(1)|breast(1)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) GAGGAGGGGCCAAGCACCTCG 0.567 18 68 --- --- --- --- PASS GABRQ 55879 broad.mit.edu 37 X 151820229 151820229 + Missense_Mutation SNP T C C TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chrX:151820229T>C uc004ffp.1 + 8 1162 c.1142T>C c.(1141-1143)GTG>GCG p.V381A NM_018558 NP_061028 Q9UN88 GBRT_HUMAN gamma-aminobutyric acid (GABA) receptor, theta 381 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity ovary(2)|pancreas(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) CAGCAAGTGGTGGTAGGAAAC 0.517 27 41 --- --- --- --- PASS ATP2B3 492 broad.mit.edu 37 X 152845732 152845732 + Silent SNP C A A TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chrX:152845732C>A uc004fht.1 + 20 3765 c.3639C>A c.(3637-3639)CTC>CTA p.L1213L ATP2B3_uc004fhs.1_3'UTR|ATP2B3_uc010nuf.1_Silent_p.L350L|ATP2B3_uc004fhu.1_Silent_p.L165L NM_001001344 NP_001001344 Q16720 AT2B3_HUMAN plasma membrane calcium ATPase 3 isoform 3b 1213 Cytoplasmic (Potential). ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding pancreas(1) 1 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GGAGCCCGCTCCACAGCGTGG 0.388 12 21 --- --- --- --- PASS OPN1LW 5956 broad.mit.edu 37 X 153418503 153418503 + Missense_Mutation SNP A C C TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chrX:153418503A>C uc004fjz.3 + 3 533 c.500A>C c.(499-501)AAG>ACG p.K167T NM_020061 NP_064445 P04000 OPSR_HUMAN opsin 1 (cone pigments), long-wave-sensitive 167 Cytoplasmic. phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity 0 all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TTTGATGCCAAGCTGGCCATC 0.577 7 28 --- --- --- --- PASS F8 2157 broad.mit.edu 37 X 154182312 154182312 + Missense_Mutation SNP C A A TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chrX:154182312C>A uc004fmt.2 - 12 1929 c.1758G>T c.(1756-1758)ATG>ATT p.M586I NM_000132 NP_000123 P00451 FA8_HUMAN coagulation factor VIII isoform a precursor 586 F5/8 type A 2.|Plastocyanin-like 4. M -> V (in HEMA; mild). acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 11 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) TCTTGTCTGACATTATCTGTT 0.418 35 91 --- --- --- --- PASS CDKN2A 1029 broad.mit.edu 37 9 21974695 21974696 + Frame_Shift_Ins INS - T T TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx abc94013-71f5-4ac6-88a4-01b4ef9f9d2f d888d563-4af8-4487-9e42-7a4595d962df g.chr9:21974695_21974696insT uc003zpk.2 - 1 343_344 c.131_132insA c.(130-132)TACfs p.Y44fs MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_Frame_Shift_Ins_p.Y44fs|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Intron NM_000077 NP_000068 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 1 44 ANK 2. cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding p.0?(1112)|p.?(25)|p.Y44*(3)|p.Y44fs*1(1)|p.Y44fs*76(1)|p.V28_V51del(1)|p.G45del(1)|p.Y44S(1) haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1) 3678 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) GCCTCCGACCGTAACTATTCGG 0.683 17 Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 68 62 --- --- --- ---