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 CHD5 26038 broad.mit.edu 37 1 6196587 6196587 + Nonsense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr1:6196587C>A uc001amb.1 - 17 2786 c.2686G>T c.(2686-2688)GAG>TAG p.E896* CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA|CHD5_uc009vlx.1_RNA NM_015557 NP_056372 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 896 Helicase ATP-binding. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1) 12 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) TTGAACCTCTCTGGAGTCAGG 0.552 22 69 --- --- --- --- PASS NOL9 79707 broad.mit.edu 37 1 6592774 6592774 + Silent SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr1:6592774G>T uc001ans.2 - 8 1303 c.1284C>A c.(1282-1284)CCC>CCA p.P428P NOL9_uc010nzs.1_RNA NM_024654 NP_078930 Q5SY16 NOL9_HUMAN nucleolar protein 9 428 maturation of 5.8S rRNA nucleolus ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding skin(1) 1 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649) CCACGTGGCTGGGAGACAGCA 0.502 17 32 --- --- --- --- PASS ZBTB48 3104 broad.mit.edu 37 1 6648820 6648820 + Silent SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr1:6648820G>T uc009vmc.1 + 10 1809 c.1686G>T c.(1684-1686)GTG>GTT p.V562V ZBTB48_uc001anx.2_Silent_p.V562V|ZBTB48_uc009vmd.1_Silent_p.V562V|ZBTB48_uc001any.1_Silent_p.V200V NM_005341 NP_005332 P10074 ZBT48_HUMAN zinc finger and BTB domain containing 48 562 C2H2-type 10. cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642) TTGCAGCCGTGGAGCAACTGC 0.632 12 21 --- --- --- --- PASS SLC45A1 50651 broad.mit.edu 37 1 8390781 8390781 + Missense_Mutation SNP G A A rs139151699 byFrequency TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr1:8390781G>A uc001apb.2 + 4 1228 c.1228G>A c.(1228-1230)GGC>AGC p.G410S SLC45A1_uc001apc.2_Missense_Mutation_p.G108S NM_001080397 NP_001073866 Q9Y2W3 S45A1_HUMAN DNB5 410 carbohydrate transport integral to membrane symporter activity central_nervous_system(2)|pancreas(1)|skin(1) 4 Ovarian(185;0.0661)|all_lung(157;0.127) all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649) GGCCCCCGACGGCTTCTACCG 0.682 11 26 --- --- --- --- PASS CLSTN1 22883 broad.mit.edu 37 1 9791886 9791886 + Silent SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr1:9791886C>A uc001aqh.2 - 17 3255 c.2496G>T c.(2494-2496)GTG>GTT p.V832V CLSTN1_uc001aqi.2_Silent_p.V822V|CLSTN1_uc010oag.1_Silent_p.V813V|CLSTN1_uc001aqf.2_Silent_p.V68V NM_001009566 NP_001009566 O94985 CSTN1_HUMAN calsyntenin 1 isoform 1 832 Extracellular (Potential). homophilic cell adhesion cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane calcium ion binding skin(1) 1 all_lung(157;0.222) all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419) GTTCCGGGTGCACGAACTGTG 0.592 4 20 --- --- --- --- PASS C1orf187 374946 broad.mit.edu 37 1 11766571 11766571 + Missense_Mutation SNP C A A rs41275444 TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr1:11766571C>A uc001asr.1 + 2 396 c.256C>A c.(256-258)CAG>AAG p.Q86K NM_198545 NP_940947 Q8NBI3 DRAXI_HUMAN chromosome 1 open reading frame 187 precursor 86 axon guidance|commissural neuron differentiation in spinal cord|dorsal spinal cord development|forebrain development|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway extracellular region 0 Ovarian(185;0.249) Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.48e-06)|COAD - Colon adenocarcinoma(227;0.000283)|BRCA - Breast invasive adenocarcinoma(304;0.000316)|Kidney(185;0.000841)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|STAD - Stomach adenocarcinoma(313;0.00754)|READ - Rectum adenocarcinoma(331;0.0651) CGCCACCAGGCAGGCCTCCAG 0.711 7 11 --- --- --- --- PASS PRAMEF12 390999 broad.mit.edu 37 1 12837316 12837316 + Silent SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr1:12837316G>T uc001aui.2 + 3 1053 c.1026G>T c.(1024-1026)CTG>CTT p.L342L NM_001080830 NP_001074299 O95522 PRA12_HUMAN PRAME family member 12 342 ovary(3) 3 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TCTCAGTTCTGCTGGAGCAAG 0.587 35 61 --- --- --- --- PASS EPHA2 1969 broad.mit.edu 37 1 16456843 16456843 + Silent SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr1:16456843G>T uc001aya.1 - 15 2684 c.2547C>A c.(2545-2547)CTC>CTA p.L849L NM_004431 NP_004422 P29317 EPHA2_HUMAN ephrin receptor EphA2 precursor 849 Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.|Cytoplasmic (Potential). activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane ATP binding|ephrin receptor activity|protein binding lung(3)|central_nervous_system(3)|stomach(2)|ovary(2) 10 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649) Dasatinib(DB01254) ACTGCATCATGAGCTGGTAGA 0.627 8 22 --- --- --- --- PASS CROCC 9696 broad.mit.edu 37 1 17281810 17281810 + Nonsense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr1:17281810G>T uc001azt.2 + 24 3538 c.3469G>T c.(3469-3471)GAA>TAA p.E1157* CROCC_uc001azu.2_Nonsense_Mutation_p.E460* NM_014675 NP_055490 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil 1157 Potential. cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity ovary(2)|breast(2)|central_nervous_system(1) 5 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) CTCACAGGCAGAAGAGCTTCG 0.697 8 24 --- --- --- --- PASS ARHGEF10L 55160 broad.mit.edu 37 1 17961049 17961049 + Silent SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr1:17961049C>A uc001ban.2 + 17 1896 c.1737C>A c.(1735-1737)GCC>GCA p.A579A ARHGEF10L_uc009vpe.1_Silent_p.A540A|ARHGEF10L_uc001bao.2_Silent_p.A540A|ARHGEF10L_uc001bap.2_Intron|ARHGEF10L_uc010ocr.1_Silent_p.A337A|ARHGEF10L_uc001baq.2_Intron|ARHGEF10L_uc010ocs.1_Intron|ARHGEF10L_uc001bar.2_Intron|ARHGEF10L_uc009vpf.2_Intron NM_018125 NP_060595 Q9HCE6 ARGAL_HUMAN Rho guanine nucleotide exchange factor (GEF) 579 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(1)|ovary(1)|pancreas(1) 3 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204) CCAGGCCTGCCAACCACAGGT 0.453 33 72 --- --- --- --- PASS IL22RA1 58985 broad.mit.edu 37 1 24448198 24448198 + Silent SNP C A A rs143248338 TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr1:24448198C>A uc001biq.1 - 7 861 c.822G>T c.(820-822)CCG>CCT p.P274P IL22RA1_uc010oeg.1_Silent_p.P206P|IL22RA1_uc009vrb.1_Silent_p.P138P|IL22RA1_uc010oeh.1_Silent_p.P274P NM_021258 NP_067081 Q8N6P7 I22R1_HUMAN interleukin 22 receptor, alpha 1 precursor 274 Cytoplasmic (Potential). integral to membrane interferon receptor activity skin(1) 1 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148) TGAAGCGCAGCGGCTGGAAAG 0.607 4 6 --- --- --- --- PASS PTPRU 10076 broad.mit.edu 37 1 29609253 29609253 + Missense_Mutation SNP A T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr1:29609253A>T uc001bru.2 + 12 2044 c.1934A>T c.(1933-1935)GAC>GTC p.D645V PTPRU_uc001brv.2_Missense_Mutation_p.D645V|PTPRU_uc001brw.2_Missense_Mutation_p.D645V|PTPRU_uc009vtq.2_Missense_Mutation_p.D645V|PTPRU_uc009vtr.2_Missense_Mutation_p.D645V NM_005704 NP_005695 Q92729 PTPRU_HUMAN protein tyrosine phosphatase, receptor type, U 645 Extracellular (Potential).|Fibronectin type-III 4. 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) GGTGGACAGGACTGCTTCCCA 0.667 5 30 --- --- --- --- PASS SNIP1 79753 broad.mit.edu 37 1 38006033 38006033 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr1:38006033C>A uc001cbi.2 - 3 724 c.651G>T c.(649-651)GAG>GAT p.E217D SNIP1_uc010oid.1_RNA NM_024700 NP_078976 Q8TAD8 SNIP1_HUMAN Smad nuclear interacting protein 217 production of miRNAs involved in gene silencing by miRNA nucleus protein binding p.E217Q(1) upper_aerodigestive_tract(1)|lung(1) 2 Myeloproliferative disorder(586;0.0393) TAGCGGGCACCTCTTTTTCTT 0.532 20 36 --- --- --- --- PASS LEPRE1 64175 broad.mit.edu 37 1 43232245 43232245 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr1:43232245C>A uc001chv.2 - 1 511 c.398G>T c.(397-399)AGC>ATC p.S133I LEPRE1_uc001chw.2_Missense_Mutation_p.S133I|LEPRE1_uc001chx.3_Missense_Mutation_p.S133I|LEPRE1_uc001chy.3_Missense_Mutation_p.S133I|LEPRE1_uc001chz.2_Missense_Mutation_p.S133I|C1orf50_uc001cia.3_5'Flank NM_022356 NP_071751 Q32P28 P3H1_HUMAN leprecan 1 isoform 1 133 negative regulation of cell proliferation endoplasmic reticulum|proteinaceous extracellular matrix iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity ovary(3)|lung(1) 4 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) CATCTCTTCGCTGAGCGAGTG 0.711 4 10 --- --- --- --- PASS ZCCHC11 23318 broad.mit.edu 37 1 52954643 52954643 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr1:52954643C>A uc001ctx.2 - 9 1687 c.1453G>T c.(1453-1455)GCC>TCC p.A485S ZCCHC11_uc001cty.2_Missense_Mutation_p.A485S|ZCCHC11_uc001ctz.2_Missense_Mutation_p.A485S|ZCCHC11_uc009vze.1_Missense_Mutation_p.A485S|ZCCHC11_uc009vzf.1_Missense_Mutation_p.A244S|ZCCHC11_uc001cub.2_Missense_Mutation_p.A485S|ZCCHC11_uc001cuc.2_RNA NM_015269 NP_056084 Q5TAX3 TUT4_HUMAN zinc finger, CCHC domain containing 11 isoform 485 miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance cytoplasm|nucleolus nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding ovary(2)|skin(1) 3 TTGCCAAGGGCAGTAAGTAAA 0.363 18 43 --- --- --- --- PASS TMED5 50999 broad.mit.edu 37 1 93621951 93621951 + Missense_Mutation SNP A T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr1:93621951A>T uc001dpn.2 - 3 824 c.377T>A c.(376-378)CTG>CAG p.L126Q TMED5_uc001dpo.2_Missense_Mutation_p.L126Q|TMED5_uc001dpp.2_RNA NM_016040 NP_057124 Q9Y3A6 TMED5_HUMAN transmembrane emp24 protein transport domain 126 GOLD.|Lumenal (Potential). transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane ovary(1) 1 all_lung(203;0.0223)|Lung NSC(277;0.071)|Melanoma(281;0.147)|Glioma(108;0.188) all cancers(265;0.00108)|GBM - Glioblastoma multiforme(16;0.00407)|Epithelial(280;0.0797) CATATTATCCAGGATTAATTC 0.358 29 46 --- --- --- --- PASS FNDC7 163479 broad.mit.edu 37 1 109265066 109265066 + Missense_Mutation SNP G C C TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr1:109265066G>C uc001dvx.2 + 5 708 c.708G>C c.(706-708)TTG>TTC p.L236F FNDC7_uc010ova.1_Missense_Mutation_p.L3F NM_001144937 NP_001138409 Q5VTL7 FNDC7_HUMAN fibronectin type III domain containing 7 237 Fibronectin type-III 3. extracellular region ovary(1)|skin(1) 2 all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728) Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244) TGATGGCTTTGAGCGACTCTT 0.468 7 29 --- --- --- --- PASS RBM15 64783 broad.mit.edu 37 1 110884310 110884310 + Silent SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr1:110884310C>A uc001dzl.1 + 1 2366 c.2283C>A c.(2281-2283)TCC>TCA p.S761S RBM15_uc001dzm.1_Silent_p.S761S|uc001dzj.2_5'Flank NM_022768 NP_073605 Q96T37 RBM15_HUMAN RNA binding motif protein 15 761 interspecies interaction between organisms nucleus nucleotide binding|protein binding|RNA binding ovary(3) 3 all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634) BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135) CTGCTTCCTCCAAGCTGAAGT 0.567 T MKL1 acute megakaryocytic leukemia 11 58 --- --- --- --- PASS LRIG2 9860 broad.mit.edu 37 1 113666601 113666601 + Nonsense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr1:113666601G>T uc001edf.1 + 18 3274 c.3076G>T c.(3076-3078)GAG>TAG p.E1026* LRIG2_uc009wgn.1_Nonsense_Mutation_p.E923* NM_014813 NP_055628 O94898 LRIG2_HUMAN leucine-rich repeats and immunoglobulin-like 1026 Cytoplasmic (Potential). cytoplasm|integral to membrane|plasma membrane ovary(3) 3 Lung SC(450;0.246) all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986) Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15) TCATCAAAATGAGGGCCTGGC 0.502 20 29 --- --- --- --- PASS SPAG17 200162 broad.mit.edu 37 1 118628604 118628604 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr1:118628604G>T uc001ehk.2 - 13 1771 c.1703C>A c.(1702-1704)CCA>CAA p.P568Q NM_206996 NP_996879 Q6Q759 SPG17_HUMAN sperm associated antigen 17 568 cilium|flagellar axoneme|microtubule upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1) 6 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) GTTGTTCCATGGTGGGGGTAG 0.403 14 56 --- --- --- --- PASS ANKRD35 148741 broad.mit.edu 37 1 145558874 145558874 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr1:145558874C>A uc001eob.1 + 7 601 c.493C>A c.(493-495)CAC>AAC p.H165N NBPF10_uc001emp.3_Intron|ANKRD35_uc010oyx.1_Missense_Mutation_p.H8N NM_144698 NP_653299 Q8N283 ANR35_HUMAN ankyrin repeat domain 35 165 ANK 4. ovary(4)|skin(1) 5 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GCTGGGTGGGCACGCAGCTAT 0.562 20 64 --- --- --- --- PASS ADAMTSL4 54507 broad.mit.edu 37 1 150530973 150530973 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr1:150530973C>A uc001eux.2 + 15 2643 c.2407C>A c.(2407-2409)CAG>AAG p.Q803K ADAMTSL4_uc001euw.2_Missense_Mutation_p.Q803K|ADAMTSL4_uc009wlw.2_Missense_Mutation_p.Q826K|ADAMTSL4_uc010pcg.1_Missense_Mutation_p.Q764K|ADAMTSL4_uc009wlx.2_5'UTR NM_019032 NP_061905 Q6UY14 ATL4_HUMAN thrombospondin repeat containing 1 isoform 1 803 TSP type-1 3. apoptosis|positive regulation of apoptosis metalloendopeptidase activity|protease binding ovary(1)|skin(1) 2 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) CGGCCGGGGCCAGAGAAGCCG 0.657 14 23 --- --- --- --- PASS LASS2 29956 broad.mit.edu 37 1 150939874 150939874 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr1:150939874C>A uc001evy.2 - 7 993 c.606G>T c.(604-606)AAG>AAT p.K202N LASS2_uc001evz.2_Missense_Mutation_p.K202N|LASS2_uc009wmh.2_Missense_Mutation_p.K52N NM_181746 NP_859530 Q96G23 CERS2_HUMAN LAG1 longevity assurance 2 202 TLC.|Cytoplasmic (Potential). endoplasmic reticulum membrane|integral to membrane|nuclear membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity 0 all_lung(15;8.07e-35)|Lung NSC(24;7.93e-31)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) CCACCTTTCGCTTGACATCAG 0.502 13 27 --- --- --- --- PASS RPTN 126638 broad.mit.edu 37 1 152127910 152127910 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr1:152127910C>A uc001ezs.1 - 3 1730 c.1665G>T c.(1663-1665)CAG>CAT p.Q555H NM_001122965 NP_001116437 Q6XPR3 RPTN_HUMAN repetin 555 Gln-rich. proteinaceous extracellular matrix calcium ion binding 0 AGTGGGAACTCTGGCCTTGTC 0.507 205 417 --- --- --- --- PASS HRNR 388697 broad.mit.edu 37 1 152187517 152187517 + Silent SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr1:152187517G>T uc001ezt.1 - 3 6664 c.6588C>A c.(6586-6588)TCC>TCA p.S2196S NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 2196 24. keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GGCCGTGGCTGGAGGAGTGCC 0.632 16 271 --- --- --- --- PASS FLG2 388698 broad.mit.edu 37 1 152326015 152326015 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr1:152326015G>T uc001ezw.3 - 3 4320 c.4247C>A c.(4246-4248)ACA>AAA p.T1416K uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 1416 calcium ion binding|structural molecule activity ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1) 17 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCTTCCAGTTGTCCTGGACCC 0.517 5 230 --- --- --- --- PASS NPR1 4881 broad.mit.edu 37 1 153658631 153658631 + Silent SNP T C C TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr1:153658631T>C uc001fcs.3 + 10 2134 c.1713T>C c.(1711-1713)CGT>CGC p.R571R NPR1_uc010pdz.1_Silent_p.R317R|NPR1_uc010pea.1_Intron NM_000906 NP_000897 P16066 ANPRA_HUMAN natriuretic peptide receptor 1 precursor 571 Cytoplasmic (Potential).|Protein kinase. body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity ovary(3)|lung(2)|stomach(1)|breast(1) 7 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325) GTGTGAACCGTAAACGCATTG 0.557 5 14 --- --- --- --- PASS PBXIP1 57326 broad.mit.edu 37 1 154923709 154923709 + Silent SNP T C C TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr1:154923709T>C uc001ffr.2 - 5 467 c.408A>G c.(406-408)GCA>GCG p.A136A PBXIP1_uc001ffs.2_Silent_p.A107A|PBXIP1_uc010pep.1_5'UTR|PBXIP1_uc009woy.1_RNA NM_020524 NP_065385 Q96AQ6 PBIP1_HUMAN pre-B-cell leukemia homeobox interacting protein 136 cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent cytosol|microtubule|nucleus protein binding|transcription corepressor activity large_intestine(1) 1 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) GACTCTCACCTGCTTTGGGGG 0.592 7 15 --- --- --- --- PASS ARHGEF2 9181 broad.mit.edu 37 1 155931687 155931687 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr1:155931687C>A uc001fmt.2 - 11 1351 c.1233G>T c.(1231-1233)GAG>GAT p.E411D ARHGEF2_uc001fmr.2_Missense_Mutation_p.E383D|ARHGEF2_uc001fms.2_Missense_Mutation_p.E410D|ARHGEF2_uc001fmu.2_Missense_Mutation_p.E455D|ARHGEF2_uc010pgt.1_Missense_Mutation_p.E384D|ARHGEF2_uc010pgu.1_Missense_Mutation_p.E456D NM_001162383 NP_001155855 Q92974 ARHG2_HUMAN Rho/Rac guanine nucleotide exchange factor 2 411 DH. actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding ovary(1) 1 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) GGTCCTGGCGCTCCTCCTCGA 0.587 37 56 --- --- --- --- PASS FCRL5 83416 broad.mit.edu 37 1 157509155 157509155 + Splice_Site SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr1:157509155C>A uc001fqu.2 - 7 1282 c.1124_splice c.e7-1 p.V375_splice FCRL5_uc009wsm.2_Splice_Site_p.V375_splice|FCRL5_uc010phv.1_Splice_Site_p.V375_splice|FCRL5_uc010phw.1_Splice_Site_p.V290_splice|FCRL5_uc001fqv.1_Splice_Site_p.V375_splice|FCRL5_uc010phx.1_Splice_Site_p.V126_splice NM_031281 NP_112571 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 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) GACACGGGAACTGAGAGAGAG 0.368 12 25 --- --- --- --- PASS CD5L 922 broad.mit.edu 37 1 157804231 157804231 + Missense_Mutation SNP G C C TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr1:157804231G>C uc001frk.3 - 4 827 c.684C>G c.(682-684)TGC>TGG p.C228W NM_005894 NP_005885 O43866 CD5L_HUMAN CD5 molecule-like precursor 228 SRCR 2. apoptosis|cellular defense response extracellular space|membrane scavenger receptor activity ovary(1) 1 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) CATCATGGTTGCAGGTGTTCT 0.488 12 29 --- --- --- --- PASS SPTA1 6708 broad.mit.edu 37 1 158592861 158592861 + Missense_Mutation SNP G A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr1:158592861G>A uc001fst.1 - 43 6231 c.6032C>T c.(6031-6033)GCC>GTC p.A2011V NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 2011 Spectrin 19. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) CAGCAGAGCGGCATAACGCTC 0.483 5 335 --- --- --- --- PASS FCRLB 127943 broad.mit.edu 37 1 161697326 161697326 + Silent SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr1:161697326G>T uc001gbh.2 + 8 1389 c.1155G>T c.(1153-1155)CTG>CTT p.L385L FCRLB_uc009wus.2_Silent_p.L385L|FCRLB_uc001gbj.2_3'UTR|FCRLB_uc001gbk.2_3'UTR|FCRLB_uc001gbl.2_3'UTR|FCRLB_uc001gbm.2_3'UTR|FCRLB_uc001gbi.2_Silent_p.L385L|FCRLB_uc001gbn.3_3'UTR NM_001002901 NP_001002901 Q6BAA4 FCRLB_HUMAN Fc receptor-like B 385 endoplasmic reticulum 0 all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00634) AAGGCCTTCTGAGCCGGGTGG 0.647 17 40 --- --- --- --- PASS RASAL2 9462 broad.mit.edu 37 1 178427449 178427449 + Nonsense_Mutation SNP C T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr1:178427449C>T uc001glr.2 + 12 2724 c.2599C>T c.(2599-2601)CAG>TAG p.Q867* RASAL2_uc001glq.2_Nonsense_Mutation_p.Q1008*|RASAL2_uc009wxc.2_Nonsense_Mutation_p.Q381* NM_004841 NP_004832 Q9UJF2 NGAP_HUMAN RAS protein activator like 2 isoform 1 867 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity ovary(2)|breast(2)|large_intestine(1) 5 TAGTACTGGGCAGGCCCAGAT 0.552 11 25 --- --- --- --- PASS CEP350 9857 broad.mit.edu 37 1 179989506 179989506 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr1:179989506C>A uc001gnt.2 + 12 2980 c.2597C>A c.(2596-2598)GCA>GAA p.A866E CEP350_uc009wxl.2_Missense_Mutation_p.A865E|CEP350_uc001gnu.2_Missense_Mutation_p.A700E NM_014810 NP_055625 Q5VT06 CE350_HUMAN centrosome-associated protein 350 866 centrosome|nucleus|spindle ovary(4) 4 GTGCAGCAGGCACCTCAAGAA 0.463 40 87 --- --- --- --- PASS TEDDM1 127670 broad.mit.edu 37 1 182369170 182369170 + Missense_Mutation SNP G T T rs112817733 TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr1:182369170G>T uc001gpe.2 - 1 582 c.451C>A c.(451-453)CCC>ACC p.P151T NM_172000 NP_741997 Q5T9Z0 TEDM1_HUMAN putative membrane protein HE9 151 integral to membrane ovary(2) 2 CACATGTTGGGAGCCCACAGC 0.507 12 47 --- --- --- --- PASS LAMC2 3918 broad.mit.edu 37 1 183191274 183191274 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr1:183191274C>A uc001gqa.2 + 6 1005 c.691C>A c.(691-693)CAA>AAA p.Q231K LAMC2_uc001gpz.3_Missense_Mutation_p.Q231K|LAMC2_uc010poa.1_5'UTR NM_005562 NP_005553 Q13753 LAMC2_HUMAN laminin, gamma 2 isoform a precursor 231 Laminin IV type A. cell adhesion|epidermis development|hemidesmosome assembly heparin binding skin(2)|ovary(1) 3 TGCAAAGCTCCAATGGTCACA 0.468 26 84 --- --- --- --- PASS NMNAT2 23057 broad.mit.edu 37 1 183255900 183255900 + Silent SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr1:183255900G>T uc001gqc.1 - 5 680 c.345C>A c.(343-345)TCC>TCA p.S115S NMNAT2_uc001gqb.1_Silent_p.S110S|NMNAT2_uc001gqd.2_Silent_p.S10S NM_015039 NP_055854 Q9BZQ4 NMNA2_HUMAN nicotinamide mononucleotide adenylyltransferase 115 water-soluble vitamin metabolic process Golgi membrane|nucleus ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity skin(1) 1 TGTTGACATTGGAGAGGATGC 0.502 13 38 --- --- --- --- PASS NMNAT2 23057 broad.mit.edu 37 1 183255901 183255901 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr1:183255901G>T uc001gqc.1 - 5 679 c.344C>A c.(343-345)TCC>TAC p.S115Y NMNAT2_uc001gqb.1_Missense_Mutation_p.S110Y|NMNAT2_uc001gqd.2_Missense_Mutation_p.S10Y NM_015039 NP_055854 Q9BZQ4 NMNA2_HUMAN nicotinamide mononucleotide adenylyltransferase 115 water-soluble vitamin metabolic process Golgi membrane|nucleus ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity skin(1) 1 GTTGACATTGGAGAGGATGCA 0.502 13 39 --- --- --- --- PASS C1orf26 54823 broad.mit.edu 37 1 185151152 185151152 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr1:185151152G>T uc001grg.3 + 7 1215 c.1101G>T c.(1099-1101)ATG>ATT p.M367I C1orf26_uc001grh.3_Missense_Mutation_p.M367I NM_001105518 NP_001098988 Q5T5J6 SWT1_HUMAN hypothetical protein LOC54823 367 0 TAATGAGTATGGAAATTGACT 0.388 10 38 --- --- --- --- PASS IGFN1 91156 broad.mit.edu 37 1 201195181 201195181 + Silent SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr1:201195181G>T uc001gwc.2 + 11 2968 c.2196G>T c.(2194-2196)GTG>GTT p.V732V IGFN1_uc001gwb.2_RNA NM_178275 NP_840059 RecName: Full=Immunoglobulin-like and fibronectin type III domain-containing protein 1; AltName: Full=EEF1A2-binding protein 1; AltName: Full=KY-interacting protein 1; ovary(2)|pancreas(1) 3 TCAGGGTGGTGGCCAAGAATG 0.682 14 27 --- --- --- --- PASS DYRK3 8444 broad.mit.edu 37 1 206821606 206821606 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr1:206821606G>T uc001hej.2 + 3 1231 c.1063G>T c.(1063-1065)GAC>TAC p.D355Y DYRK3_uc001hek.2_Intron|DYRK3_uc001hei.2_Missense_Mutation_p.D335Y NM_003582 NP_003573 O43781 DYRK3_HUMAN dual-specificity tyrosine-(Y)-phosphorylation 355 Protein kinase. erythrocyte differentiation nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity stomach(2)|central_nervous_system(1) 3 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.166) CAAGGTCATTGACTTTGGGTC 0.463 35 68 --- --- --- --- PASS YOD1 55432 broad.mit.edu 37 1 207222725 207222725 + Silent SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr1:207222725G>T uc001hfe.1 - 2 734 c.687C>A c.(685-687)TCC>TCA p.S229S PFKFB2_uc010psc.1_Intron|YOD1_uc001hff.1_Silent_p.S185S NM_018566 NP_061036 Q5VVQ6 OTU1_HUMAN YOD1 OTU deubiquinating enzyme 1 homolog 229 OTU. cellular amino acid metabolic process|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination intracellular protein binding|ubiquitin-specific protease activity|zinc ion binding lung(1) 1 Prostate(682;0.19) GGTAAAACTTGGACAAAATCG 0.388 63 124 --- --- --- --- PASS C1orf74 148304 broad.mit.edu 37 1 209956842 209956842 + Silent SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr1:209956842C>A uc001hhp.1 - 2 381 c.138G>T c.(136-138)GTG>GTT p.V46V NM_152485 NP_689698 Q96LT6 CA074_HUMAN hypothetical protein LOC148304 46 skin(1) 1 OV - Ovarian serous cystadenocarcinoma(81;0.0328) GTCCCCGGGCCACAGCCAGCA 0.597 7 85 --- --- --- --- PASS TRAF5 7188 broad.mit.edu 37 1 211527758 211527758 + Missense_Mutation SNP A T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr1:211527758A>T uc001hih.2 + 3 285 c.225A>T c.(223-225)TTA>TTT p.L75F TRAF5_uc001hii.2_Missense_Mutation_p.L75F|TRAF5_uc010psx.1_Missense_Mutation_p.L75F|TRAF5_uc010psy.1_Missense_Mutation_p.L75F|TRAF5_uc001hij.2_Missense_Mutation_p.L75F NM_004619 NP_004610 O00463 TRAF5_HUMAN TNF receptor-associated factor 5 75 RING-type. apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis CD40 receptor complex|centrosome|internal side of plasma membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding lung(2)|breast(2)|ovary(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144) CCAGAGAATTAAACACAGTGC 0.458 9 24 --- --- --- --- PASS DTL 51514 broad.mit.edu 37 1 212220693 212220693 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr1:212220693C>A uc009xdc.2 + 5 708 c.394C>A c.(394-396)CTG>ATG p.L132M DTL_uc010ptb.1_Missense_Mutation_p.L90M|DTL_uc001hiz.3_Translation_Start_Site NM_016448 NP_057532 Q9NZJ0 DTL_HUMAN denticleless homolog 132 WD 2. DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane protein binding 0 OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102) AGCTGGTGAGCTGATTGGAAC 0.388 50 97 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 216251535 216251535 + Missense_Mutation SNP G C C TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr1:216251535G>C uc001hku.1 - 27 5855 c.5468C>G c.(5467-5469)GCA>GGA p.A1823G NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 1823 Laminin G-like 2.|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) GGACTCCGATGCATGCTTCAT 0.433 HNSCC(13;0.011) 61 114 --- --- --- --- PASS IARS2 55699 broad.mit.edu 37 1 220275535 220275535 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr1:220275535G>T uc001hmc.2 + 4 719 c.615G>T c.(613-615)ATG>ATT p.M205I NM_018060 NP_060530 Q9NSE4 SYIM_HUMAN mitochondrial isoleucine tRNA synthetase 205 isoleucyl-tRNA aminoacylation mitochondrial matrix ATP binding|isoleucine-tRNA ligase activity ovary(2)|skin(2) 4 GBM - Glioblastoma multiforme(131;0.0554) L-Isoleucine(DB00167) GGGGAATAATGGCAGATTGGA 0.308 13 102 --- --- --- --- PASS TRIM67 440730 broad.mit.edu 37 1 231337116 231337116 + Silent SNP C T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr1:231337116C>T uc009xfn.1 + 5 1429 c.1387C>T c.(1387-1389)CTG>TTG p.L463L NM_001004342 NP_001004342 Q6ZTA4 TRI67_HUMAN tripartite motif-containing 67 463 COS. cytoplasm|cytoskeleton zinc ion binding ovary(2)|breast(1)|kidney(1) 4 Breast(184;0.0871) all_cancers(173;0.189)|Prostate(94;0.167) CTCAGATGCTCTGATCAAGCG 0.522 4 8 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237948048 237948048 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr1:237948048G>T uc001hyl.1 + 90 13156 c.13036G>T c.(13036-13038)GGG>TGG p.G4346W RYR2_uc010pya.1_Missense_Mutation_p.G761W NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 4346 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TAGAGGAGATGGGGAGGAGGG 0.547 16 44 --- --- --- --- PASS OR2T1 26696 broad.mit.edu 37 1 248569619 248569619 + Silent SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr1:248569619C>A uc010pzm.1 + 1 324 c.324C>A c.(322-324)CCC>CCA p.P108P NM_030904 NP_112166 O43869 OR2T1_HUMAN olfactory receptor, family 2, subfamily T, 108 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TTCATACACCCATGTACTTCC 0.428 45 109 --- --- --- --- PASS HADHA 3030 broad.mit.edu 37 2 26462001 26462001 + Nonsense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr2:26462001G>T uc002rgy.2 - 2 208 c.78C>A c.(76-78)TGC>TGA p.C26* HADHA_uc010yks.1_5'UTR|HADHA_uc010ykt.1_5'UTR NM_000182 NP_000173 P40939 ECHA_HUMAN mitochondrial trifunctional protein, alpha 26 fatty acid beta-oxidation fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus 3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) NADH(DB00157) TAAAATTGCGGCATATATAAC 0.269 21 64 --- --- --- --- PASS LTBP1 4052 broad.mit.edu 37 2 33413798 33413798 + Silent SNP T A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr2:33413798T>A uc002ros.2 + 7 1581 c.1581T>A c.(1579-1581)CCT>CCA p.P527P LTBP1_uc002rot.2_Silent_p.P201P|LTBP1_uc002rou.2_Silent_p.P201P|LTBP1_uc002rov.2_Silent_p.P201P|LTBP1_uc010ymz.1_Silent_p.P201P|LTBP1_uc010yna.1_Silent_p.P201P NM_206943 NP_996826 Q14766 LTBP1_HUMAN latent transforming growth factor beta binding 527 negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1) 8 all_hematologic(175;0.115) Medulloblastoma(90;0.215) AAGGGCTTCCTGTCCAGAAGA 0.537 23 57 --- --- --- --- PASS SPTBN1 6711 broad.mit.edu 37 2 54876329 54876329 + Splice_Site SNP C T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr2:54876329C>T uc002rxu.2 + 25 5451 c.5202_splice c.e25+2 p.T1734_splice SPTBN1_uc002rxx.2_Splice_Site_p.T1721_splice NM_003128 NP_003119 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 isoform 1 actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton ovary(3)|breast(2)|central_nervous_system(2)|skin(1) 8 Lung(47;0.24) CATGTCACGGCAAGTACTTGA 0.557 4 17 --- --- --- --- PASS PNPT1 87178 broad.mit.edu 37 2 55920888 55920888 + Missense_Mutation SNP G T T rs140022349 by1000genomes TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr2:55920888G>T uc002rzf.2 - 1 124 c.71C>A c.(70-72)CCA>CAA p.P24Q PNPT1_uc002rzg.2_RNA NM_033109 NP_149100 Q8TCS8 PNPT1_HUMAN polyribonucleotide nucleotidyltransferase 1 24 mRNA catabolic process|RNA processing plasma membrane 3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding 0 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) ATCCCGCCGTGGCAGAAGGAA 0.647 13 38 --- --- --- --- PASS PCYOX1 51449 broad.mit.edu 37 2 70502272 70502272 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr2:70502272G>T uc002sgn.3 + 4 742 c.676G>T c.(676-678)GGC>TGC p.G226C PCYOX1_uc010fdo.2_Missense_Mutation_p.G149C|PCYOX1_uc010yqu.1_Missense_Mutation_p.G208C NM_016297 NP_057381 Q9UHG3 PCYOX_HUMAN prenylcysteine oxidase 1 precursor 226 prenylated protein catabolic process lysosome|very-low-density lipoprotein particle prenylcysteine oxidase activity central_nervous_system(1) 1 GGTCAATTATGGCCAAAGCAC 0.463 30 81 --- --- --- --- PASS ELMOD3 84173 broad.mit.edu 37 2 85598601 85598601 + Missense_Mutation SNP C T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr2:85598601C>T uc002spf.3 + 11 1188 c.523C>T c.(523-525)CTC>TTC p.L175F ELMOD3_uc010fgg.2_Intron|ELMOD3_uc002spg.3_Missense_Mutation_p.L175F|ELMOD3_uc002sph.3_Missense_Mutation_p.L175F|ELMOD3_uc010ysn.1_Missense_Mutation_p.L175F|ELMOD3_uc010yso.1_RNA|ELMOD3_uc010ysp.1_Intron NM_001135021 NP_001128493 Q96FG2 ELMD3_HUMAN ELMO/CED-12 domain containing 3 isoform b 175 ELMO. phagocytosis cytoskeleton ovary(2) 2 TGGCCGAGTCCTCCAGACCAT 0.572 11 24 --- --- --- --- PASS CAPG 822 broad.mit.edu 37 2 85628387 85628387 + Silent SNP G C C TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr2:85628387G>C uc002spl.1 - 5 667 c.417C>G c.(415-417)CTC>CTG p.L139L CAPG_uc002spm.1_Silent_p.L139L|CAPG_uc010ysq.1_Silent_p.L139L|CAPG_uc010fgi.1_Silent_p.L139L|CAPG_uc010fgj.1_Silent_p.L33L NM_001747 NP_001738 P40121 CAPG_HUMAN gelsolin-like capping protein 139 Nuclear localization signal (Potential). barbed-end actin filament capping|protein complex assembly F-actin capping protein complex|melanosome|nuclear membrane|nucleolus actin binding 0 TCACCTGGTAGAGTTTCTTGA 0.587 21 54 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 2 90199101 90199101 + RNA SNP G C C TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr2:90199101G>C uc010fhm.2 + 24 c.3232G>C Parts of antibodies, mostly variable regions. CAGCGGCAGTGGATCTGGGAC 0.498 45 97 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 2 90199102 90199102 + RNA SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr2:90199102G>T uc010fhm.2 + 24 c.3233G>T Parts of antibodies, mostly variable regions. AGCGGCAGTGGATCTGGGACA 0.493 45 98 --- --- --- --- PASS PROM2 150696 broad.mit.edu 37 2 95944749 95944749 + Silent SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr2:95944749G>T uc002suh.1 + 10 1264 c.1131G>T c.(1129-1131)GTG>GTT p.V377V PROM2_uc002sui.2_Silent_p.V377V|PROM2_uc002suj.2_Silent_p.V31V|PROM2_uc002suk.2_Silent_p.V377V|PROM2_uc002sul.2_5'UTR|PROM2_uc002sum.2_5'Flank NM_144707 NP_653308 Q8N271 PROM2_HUMAN prominin 2 precursor 377 Extracellular (Potential). apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane ovary(1) 1 AGAAGGCAGTGGCCCAGCAGC 0.642 14 21 --- --- --- --- PASS SNRNP200 23020 broad.mit.edu 37 2 96950236 96950236 + Silent SNP G A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr2:96950236G>A uc002svu.2 - 31 4338 c.4252C>T c.(4252-4254)CTG>TTG p.L1418L SNRNP200_uc002svt.2_Silent_p.L28L|SNRNP200_uc010yuj.1_RNA|SNRNP200_uc002svv.1_5'UTR NM_014014 NP_054733 O75643 U520_HUMAN activating signal cointegrator 1 complex subunit 1418 Helicase ATP-binding 2. catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding ovary(5)|skin(4)|large_intestine(1) 10 TTGCCCAGCAGCTTCAGGTCT 0.542 37 63 --- --- --- --- PASS C2orf15 150590 broad.mit.edu 37 2 99767229 99767229 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr2:99767229G>T uc002szk.2 + 4 709 c.310G>T c.(310-312)GGG>TGG p.G104W TSGA10_uc002szi.3_Intron|MRPL30_uc002szl.1_Intron NM_144706 NP_653307 Q8WU43 CB015_HUMAN hypothetical protein LOC150590 104 0 ATCTCTTTCTGGGAAAGCCTT 0.373 16 44 --- --- --- --- PASS FOXD4L1 200350 broad.mit.edu 37 2 114256968 114256968 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr2:114256968G>T uc002tjw.3 + 1 308 c.135G>T c.(133-135)GAG>GAT p.E45D NM_012184 NP_036316 Q9NU39 FX4L1_HUMAN forkhead box D4-like 1 45 axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding 0 aggaggaggaggCGAGCCAGA 0.542 22 37 --- --- --- --- PASS EN1 2019 broad.mit.edu 37 2 119604348 119604348 + Silent SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr2:119604348G>T uc002tlm.2 - 1 1412 c.396C>A c.(394-396)GCC>GCA p.A132A NM_001426 NP_001417 Q05925 HME1_HUMAN engrailed homeobox 1 132 skeletal system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|lung(1) 2 CGCCTCCTCTGGCCGCCGCAG 0.672 8 10 --- --- --- --- PASS CLASP1 23332 broad.mit.edu 37 2 122125228 122125228 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr2:122125228G>T uc002tnc.2 - 34 4212 c.3822C>A c.(3820-3822)AAC>AAA p.N1274K CLASP1_uc010yyv.1_Missense_Mutation_p.N320K|CLASP1_uc002tmz.2_Missense_Mutation_p.N359K|CLASP1_uc002tna.2_Missense_Mutation_p.N320K|CLASP1_uc010yyw.1_RNA|CLASP1_uc002tnb.2_RNA|CLASP1_uc010yyx.1_RNA|CLASP1_uc010yyy.1_RNA|CLASP1_uc010yyz.1_Missense_Mutation_p.N1215K|CLASP1_uc010yza.1_Missense_Mutation_p.N1207K|CLASP1_uc010yzb.1_RNA|CLASP1_uc010yzc.1_RNA|CLASP1_uc002tmy.2_Missense_Mutation_p.N110K|CLASP1_uc002tnf.2_Missense_Mutation_p.N176K NM_015282 NP_056097 Q7Z460 CLAP1_HUMAN CLIP-associating protein 1 isoform 1 1274 Localization to kinetochores.|Interaction with PHLDB2 and RSN.|Interaction with CLIP2 (By similarity). axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule kinetochore binding|microtubule plus-end binding ovary(1)|central_nervous_system(1) 2 Renal(3;0.0496) TGTCGTAGGTGTTGATGGCAT 0.577 5 67 --- --- --- --- PASS MYO7B 4648 broad.mit.edu 37 2 128378018 128378018 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr2:128378018C>A uc002top.2 + 26 3477 c.3424C>A c.(3424-3426)CCA>ACA p.P1142T MYO7B_uc002toq.1_5'UTR|MYO7B_uc002tor.1_5'UTR NM_001080527 NP_001073996 Q6PIF6 MYO7B_HUMAN myosin VIIB 1142 MyTH4 1. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity ovary(1)|pancreas(1) 2 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) CGGCTGCTTCCCACCCTCAGA 0.617 10 20 --- --- --- --- PASS MYO7B 4648 broad.mit.edu 37 2 128378019 128378019 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr2:128378019C>A uc002top.2 + 26 3478 c.3425C>A c.(3424-3426)CCA>CAA p.P1142Q MYO7B_uc002toq.1_5'UTR|MYO7B_uc002tor.1_5'UTR NM_001080527 NP_001073996 Q6PIF6 MYO7B_HUMAN myosin VIIB 1142 MyTH4 1. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity ovary(1)|pancreas(1) 2 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) GGCTGCTTCCCACCCTCAGAG 0.622 10 20 --- --- --- --- PASS THSD7B 80731 broad.mit.edu 37 2 138169226 138169226 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr2:138169226C>A uc002tva.1 + 13 2650 c.2650C>A c.(2650-2652)CTA>ATA p.L884I THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Missense_Mutation_p.L774I NM_001080427 NP_001073896 thrombospondin, type I, domain containing 7B ovary(4)|central_nervous_system(2)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(221;0.19) CCTTTACCCTCTAGTGGAGAC 0.413 14 46 --- --- --- --- PASS NEB 4703 broad.mit.edu 37 2 152470912 152470912 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr2:152470912C>A uc010fnx.2 - 73 10941 c.10750G>T c.(10750-10752)GCC>TCC p.A3584S NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 3584 Nebulin 98. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) CACTTCTTGGCCAGCACCACC 0.527 39 117 --- --- --- --- PASS NEB 4703 broad.mit.edu 37 2 152470913 152470913 + Silent SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr2:152470913C>A uc010fnx.2 - 73 10940 c.10749G>T c.(10747-10749)CTG>CTT p.L3583L NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 3583 Nebulin 98. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) ACTTCTTGGCCAGCACCACCC 0.527 41 123 --- --- --- --- PASS PKP4 8502 broad.mit.edu 37 2 159481410 159481410 + Silent SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr2:159481410C>A uc002tzv.2 + 7 884 c.624C>A c.(622-624)GCC>GCA p.A208A PKP4_uc002tzt.1_Silent_p.A60A|PKP4_uc002tzu.2_Silent_p.A208A|PKP4_uc002tzw.2_Silent_p.A208A|PKP4_uc002tzx.2_Intron|PKP4_uc002tzy.1_Intron|PKP4_uc002tzz.1_Silent_p.A206A|PKP4_uc002uaa.2_Silent_p.A60A NM_003628 NP_003619 Q99569 PKP4_HUMAN plakophilin 4 isoform a 208 cell adhesion desmosome protein binding ovary(5)|skin(2) 7 CCAATCGGGCCATGAGAAGAG 0.453 HNSCC(62;0.18) 21 105 --- --- --- --- PASS DPP4 1803 broad.mit.edu 37 2 162890069 162890069 + Missense_Mutation SNP G A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr2:162890069G>A uc002ubz.2 - 10 1430 c.869C>T c.(868-870)CCT>CTT p.P290L DPP4_uc010fpb.2_5'UTR NM_001935 NP_001926 P27487 DPP4_HUMAN dipeptidylpeptidase IV 290 Extracellular (Potential). cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity ovary(3) 3 Sitagliptin(DB01261) CATAGAAGCAGGAGCAGTGAT 0.408 17 40 --- --- --- --- PASS DPP4 1803 broad.mit.edu 37 2 162890071 162890071 + Silent SNP A G G rs113302553 byFrequency TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr2:162890071A>G uc002ubz.2 - 10 1428 c.867T>C c.(865-867)GCT>GCC p.A289A DPP4_uc010fpb.2_5'UTR NM_001935 NP_001926 P27487 DPP4_HUMAN dipeptidylpeptidase IV 289 Extracellular (Potential). cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity ovary(3) 3 Sitagliptin(DB01261) TAGAAGCAGGAGCAGTGATTT 0.403 17 43 --- --- --- --- PASS CSRNP3 80034 broad.mit.edu 37 2 166535295 166535295 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr2:166535295G>T uc002udf.2 + 7 1166 c.790G>T c.(790-792)GTT>TTT p.V264F CSRNP3_uc002udg.2_Missense_Mutation_p.V264F NM_024969 NP_079245 Q8WYN3 CSRN3_HUMAN cysteine-serine-rich nuclear protein 3 264 apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|large_intestine(1)|skin(1) 5 TCCTATCCGTGTTCGGACTCA 0.448 18 45 --- --- --- --- PASS LRP2 4036 broad.mit.edu 37 2 170012824 170012824 + Silent SNP C T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr2:170012824C>T uc002ues.2 - 65 12324 c.12111G>A c.(12109-12111)ACG>ACA p.T4037T NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 4037 EGF-like 15; calcium-binding (Potential).|Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) CACTCATAGACGTGAAGCCAT 0.438 7 106 --- --- --- --- PASS TTC30A 92104 broad.mit.edu 37 2 178481602 178481602 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr2:178481602G>T uc002ulo.2 - 1 2093 c.1828C>A c.(1828-1830)CAA>AAA p.Q610K NM_152275 NP_689488 Q86WT1 TT30A_HUMAN tetratricopeptide repeat domain 30A 610 cell projection organization cilium binding 0 OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169) ACACATTCTTGAATAACACTG 0.388 11 177 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179451273 179451273 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr2:179451273G>T uc010zfg.1 - 257 56875 c.56651C>A c.(56650-56652)CCA>CAA p.P18884Q uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P12579Q|TTN_uc010zfi.1_Missense_Mutation_p.P12512Q|TTN_uc010zfj.1_Missense_Mutation_p.P12387Q NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 19811 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) AGCTTCTCTTGGCAAACTGAC 0.383 22 59 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179530162 179530162 + Silent SNP G A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr2:179530162G>A uc010zfk.1 - 10 971 c.423C>T c.(421-423)GTC>GTT p.V141V TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc010fre.1_Intron Q8WZ42 TITIN_HUMAN SubName: Full=Titin; Flags: Fragment; Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCATTTCAGGGACAACTTCTT 0.358 11 172 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179604342 179604342 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr2:179604342C>A uc010zfh.1 - 46 13329 c.13105G>T c.(13105-13107)GTG>TTG p.V4369L TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.V4302L|TTN_uc010zfj.1_Missense_Mutation_p.V4177L|TTN_uc002umz.1_Intron NM_133437 NP_597681 Q8WZ42 TITIN_HUMAN titin isoform novex-2 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTACTTTGCACGTTAAAATAA 0.393 26 44 --- --- --- --- PASS PDE1A 5136 broad.mit.edu 37 2 183066250 183066250 + Silent SNP G A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr2:183066250G>A uc002uos.2 - 11 1173 c.1089C>T c.(1087-1089)CAC>CAT p.H363H PDE1A_uc010zfp.1_Silent_p.H259H|PDE1A_uc002uoq.1_Silent_p.H363H|PDE1A_uc010zfq.1_Silent_p.H363H|PDE1A_uc002uor.2_Silent_p.H347H|PDE1A_uc002uou.2_Silent_p.H329H NM_001003683 NP_001003683 P54750 PDE1A_HUMAN phosphodiesterase 1A isoform 2 363 Catalytic (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding skin(2)|ovary(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.061) TGTCTGCTGCGTGGAGAATCA 0.463 29 58 --- --- --- --- PASS ZNF804A 91752 broad.mit.edu 37 2 185800724 185800724 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr2:185800724G>T uc002uph.2 + 4 1195 c.601G>T c.(601-603)GGG>TGG p.G201W NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 201 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 TAACCAAGTTGGGGATCAAGC 0.408 21 34 --- --- --- --- PASS ZNF804A 91752 broad.mit.edu 37 2 185802367 185802367 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr2:185802367G>T uc002uph.2 + 4 2838 c.2244G>T c.(2242-2244)ATG>ATT p.M748I NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 748 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 TGAAACACATGAGTCAGAATC 0.333 13 30 --- --- --- --- PASS COL5A2 1290 broad.mit.edu 37 2 189901518 189901518 + Missense_Mutation SNP T C C TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr2:189901518T>C uc002uqk.2 - 52 4212 c.3937A>G c.(3937-3939)ATT>GTT p.I1313V COL5A2_uc010frx.2_Missense_Mutation_p.I889V NM_000393 NP_000384 P05997 CO5A2_HUMAN alpha 2 type V collagen preproprotein 1313 Fibrillar collagen NC1. axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) TTAGGATCAATCCAGTATTCA 0.338 10 10 --- --- --- --- PASS PMS1 5378 broad.mit.edu 37 2 190728610 190728610 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr2:190728610C>A uc002urh.3 + 10 2527 c.1998C>A c.(1996-1998)CAC>CAA p.H666Q PMS1_uc010zga.1_3'UTR|PMS1_uc010zgb.1_Missense_Mutation_p.H605Q|PMS1_uc002urk.3_Missense_Mutation_p.H627Q|PMS1_uc002uri.3_Intron|PMS1_uc010zgc.1_Missense_Mutation_p.H490Q|PMS1_uc010zgd.1_Missense_Mutation_p.H490Q|PMS1_uc002urj.2_RNA|PMS1_uc010fry.1_Missense_Mutation_p.H627Q|PMS1_uc010frz.2_Intron|PMS1_uc002url.2_Intron|PMS1_uc002urm.2_RNA|PMS1_uc002urn.1_Missense_Mutation_p.H334Q NM_000534 NP_000525 P54277 PMS1_HUMAN postmeiotic segregation 1 isoform a 666 mismatch repair|reciprocal meiotic recombination MutLalpha complex ATP binding|ATPase activity|mismatched DNA binding ovary(2)|kidney(1)|central_nervous_system(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751) CCCAGAAGCACAAGTTAAAAA 0.373 Mis|N colorectal|endometrial|ovarian Direct_reversal_of_damage|MMR 20 45 --- --- --- --- PASS FZD7 8324 broad.mit.edu 37 2 202900498 202900498 + Silent SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr2:202900498C>A uc002uyw.1 + 1 1189 c.1128C>A c.(1126-1128)GCC>GCA p.A376A NM_003507 NP_003498 O75084 FZD7_HUMAN frizzled 7 precursor 376 Cytoplasmic (Potential). axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding skin(2)|ovary(1)|breast(1) 4 CCATCGAGGCCAACTCGCAGT 0.642 OREG0015146 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 53 --- --- --- --- PASS CTLA4 1493 broad.mit.edu 37 2 204732710 204732710 + Silent SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr2:204732710G>T uc002vak.1 + 1 202 c.45G>T c.(43-45)CTG>CTT p.L15L CTLA4_uc002val.1_Silent_p.L15L|CTLA4_uc010fty.1_Silent_p.L15L|CTLA4_uc010ftz.1_RNA NM_005214 NP_005205 P16410 CTLA4_HUMAN cytotoxic T-lymphocyte-associated protein 4 15 B cell receptor signaling pathway|immune response|negative regulation of B cell proliferation|negative regulation of regulatory T cell differentiation|positive regulation of apoptosis|response to DNA damage stimulus|T cell costimulation clathrin-coated endocytic vesicle|external side of plasma membrane|Golgi apparatus|integral to plasma membrane|perinuclear region of cytoplasm 0 Abatacept(DB01281) AGCTGAACCTGGCTACCAGGA 0.512 11 26 --- --- --- --- PASS MDH1B 130752 broad.mit.edu 37 2 207615680 207615680 + Missense_Mutation SNP C G G TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr2:207615680C>G uc002vbs.2 - 6 1085 c.1030G>C c.(1030-1032)GTT>CTT p.V344L MDH1B_uc010ziw.1_Intron|MDH1B_uc010fui.2_Missense_Mutation_p.V344L|MDH1B_uc010fuj.2_Missense_Mutation_p.V246L|MDH1B_uc002vbt.2_Intron NM_001039845 NP_001034934 Q5I0G3 MDH1B_HUMAN malate dehydrogenase 1B, NAD (soluble) 344 carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle binding|malate dehydrogenase activity ovary(3)|kidney(1) 4 LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145) AAGTTTAAAACAGGGCGTGAA 0.333 13 43 --- --- --- --- PASS USP37 57695 broad.mit.edu 37 2 219360482 219360482 + Splice_Site SNP C T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr2:219360482C>T uc002vie.2 - 14 1925 c.1472_splice c.e14+1 p.A491_splice USP37_uc010fvs.1_Splice_Site_p.A491_splice|USP37_uc010zkf.1_Splice_Site_p.A491_splice|USP37_uc002vif.2_Splice_Site_p.A491_splice|USP37_uc002vig.2_Splice_Site_p.A419_splice NM_020935 NP_065986 Q86T82 UBP37_HUMAN ubiquitin specific peptidase 37 ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|ubiquitin thiolesterase activity skin(3)|ovary(1)|prostate(1) 5 Renal(207;0.0915) Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487) ACACTACTTACGCTTTACAAA 0.328 12 27 --- --- --- --- PASS DES 1674 broad.mit.edu 37 2 220285264 220285264 + Silent SNP G A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr2:220285264G>A uc002vll.2 + 4 869 c.783G>A c.(781-783)GTG>GTA p.V261V NM_001927 NP_001918 P17661 DESM_HUMAN desmin 261 Rod.|Linker 12. cytoskeleton organization|muscle filament sliding|regulation of heart contraction cytosol|Z disc protein binding|structural constituent of cytoskeleton central_nervous_system(2) 2 Renal(207;0.0183) Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008) AGGTCCAGGTGGAGATGGACA 0.582 7 18 --- --- --- --- PASS ITPR1 3708 broad.mit.edu 37 3 4715954 4715954 + Missense_Mutation SNP A C C TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr3:4715954A>C uc003bqa.2 + 22 2873 c.2525A>C c.(2524-2526)GAG>GCG p.E842A ITPR1_uc010hca.1_Missense_Mutation_p.E827A|ITPR1_uc011asu.1_Intron|ITPR1_uc010hcb.1_Missense_Mutation_p.E827A NM_001099952 NP_001093422 Q14643 ITPR1_HUMAN inositol 1,4,5-triphosphate receptor, type 1 842 Cytoplasmic (Potential). activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1) 21 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) GAGTTTGTGGAGGAGTATTTA 0.373 4 1 --- --- --- --- PASS ARPP21 10777 broad.mit.edu 37 3 35763327 35763327 + Splice_Site SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr3:35763327G>T uc003cgb.2 + 14 1489 c.1225_splice c.e14+1 p.G409_splice ARPP21_uc003cga.2_Splice_Site_p.G355_splice|ARPP21_uc011axy.1_Splice_Site_p.G375_splice|ARPP21_uc003cgf.2_Splice_Site_p.G210_splice|ARPP21_uc003cgg.2_Splice_Site NM_016300 NP_057384 Q9UBL0 ARP21_HUMAN cyclic AMP-regulated phosphoprotein, 21 kD cytoplasm nucleic acid binding ovary(2)|skin(1) 3 TCCAAAGCAGGTAGTTAGTAC 0.493 4 5 --- --- --- --- PASS SCN5A 6331 broad.mit.edu 37 3 38620970 38620970 + Missense_Mutation SNP A C C TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr3:38620970A>C uc003cio.2 - 18 3439 c.3245T>G c.(3244-3246)GTG>GGG p.V1082G SCN5A_uc003cin.2_Missense_Mutation_p.V1081G|SCN5A_uc003cil.3_Missense_Mutation_p.V1082G|SCN5A_uc010hhi.2_Missense_Mutation_p.V1082G|SCN5A_uc010hhk.2_Missense_Mutation_p.V1081G|SCN5A_uc011ayr.1_Intron|SCN5A_uc010hhj.1_Missense_Mutation_p.V692G NM_198056 NP_932173 Q14524 SCN5A_HUMAN voltage-gated sodium channel type V alpha 1082 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1) 9 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) GCCACCGGACACAGGCTGGGA 0.652 9 2 --- --- --- --- PASS TCTA 6988 broad.mit.edu 37 3 49449953 49449953 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr3:49449953C>A uc003cwv.3 + 1 315 c.94C>A c.(94-96)CAG>AAG p.Q32K RHOA_uc010hku.2_5'Flank|RHOA_uc003cwu.2_5'Flank NM_022171 NP_071503 P57738 TCTA_HUMAN T-cell leukemia translocation altered 32 Cytoplasmic (Potential). integral to membrane 0 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) GTGGGAGGCGCAGGACATGCG 0.652 18 36 --- --- --- --- PASS MYH15 22989 broad.mit.edu 37 3 108133140 108133140 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr3:108133140G>T uc003dxa.1 - 31 4201 c.4144C>A c.(4144-4146)CAA>AAA p.Q1382K NM_014981 NP_055796 Q9Y2K3 MYH15_HUMAN myosin, heavy polypeptide 15 1382 Potential. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(5)|central_nervous_system(2) 7 ATTCTCCATTGCACCATTTCA 0.468 9 55 --- --- --- --- PASS DPPA2 151871 broad.mit.edu 37 3 109026974 109026974 + Nonsense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr3:109026974G>T uc003dxo.2 - 6 810 c.563C>A c.(562-564)TCA>TAA p.S188* NM_138815 NP_620170 Q7Z7J5 DPPA2_HUMAN developmental pluripotency associated 2 188 nucleus nucleic acid binding ovary(2)|upper_aerodigestive_tract(1) 3 TCTTGCCCATGATGCCAACAT 0.453 26 84 --- --- --- --- PASS DPPA4 55211 broad.mit.edu 37 3 109052821 109052821 + Nonsense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr3:109052821G>T uc003dxq.3 - 2 129 c.74C>A c.(73-75)TCG>TAG p.S25* DPPA4_uc011bho.1_Nonsense_Mutation_p.S25*|DPPA4_uc011bhp.1_Nonsense_Mutation_p.S25* NM_018189 NP_060659 Q7L190 DPPA4_HUMAN developmental pluripotency associated 4 25 nucleus protein binding upper_aerodigestive_tract(1) 1 CTCTTCCCTCGACTTCTCTGT 0.458 11 49 --- --- --- --- PASS PVRL3 25945 broad.mit.edu 37 3 110852644 110852644 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr3:110852644G>T uc003dxt.1 + 6 1232 c.1232G>T c.(1231-1233)GGT>GTT p.G411V PVRL3_uc003dxu.1_Intron NM_015480 NP_056295 Q9NQS3 PVRL3_HUMAN poliovirus receptor-related 3 precursor 411 Helical; (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane cell adhesion molecule binding|protein homodimerization activity upper_aerodigestive_tract(2) 2 AGTGTAGTGGGTGGGGCTCTC 0.428 32 98 --- --- --- --- PASS RABL3 285282 broad.mit.edu 37 3 120461343 120461343 + Silent SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr3:120461343C>A uc003edx.2 - 1 42 c.12G>T c.(10-12)CTG>CTT p.L4L GTF2E1_uc003edy.2_5'Flank|GTF2E1_uc003edz.3_5'Flank NM_173825 NP_776186 Q5HYI8 RABL3_HUMAN RAB, member of RAS oncogene family-like 3 4 Small GTPase-like. small GTPase mediated signal transduction GTP binding 0 GBM - Glioblastoma multiforme(114;0.151) TCACCCGATCCAGGGACGCCA 0.547 12 38 --- --- --- --- PASS ADCY5 111 broad.mit.edu 37 3 123166580 123166580 + Silent SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr3:123166580C>A uc003egh.1 - 1 813 c.813G>T c.(811-813)CTG>CTT p.L271L NM_183357 NP_899200 O95622 ADCY5_HUMAN adenylate cyclase 5 271 Helical; (Potential). activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding ovary(4) 4 GBM - Glioblastoma multiforme(114;0.0342) CCAGCACGGCCAGGTAGGGCA 0.687 8 26 --- --- --- --- PASS KALRN 8997 broad.mit.edu 37 3 124397053 124397053 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr3:124397053C>A uc003ehg.2 + 50 7337 c.7210C>A c.(7210-7212)CAT>AAT p.H2404N KALRN_uc003ehk.2_Missense_Mutation_p.H707N NM_001024660 NP_001019831 O60229 KALRN_HUMAN kalirin, RhoGEF kinase isoform 1 2403 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1) 6 ATGTTCATGGCATACTCTACG 0.517 28 88 --- --- --- --- PASS GP9 2815 broad.mit.edu 37 3 128780703 128780703 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr3:128780703C>A uc003elm.2 + 3 308 c.121C>A c.(121-123)CAC>AAC p.H41N NM_000174 NP_000165 P14770 GPIX_HUMAN glycoprotein IX (platelet) precursor 41 Extracellular (Potential).|LRRNT. blood coagulation, intrinsic pathway|cell adhesion|platelet activation integral to plasma membrane protein binding 0 Quinine(DB00468) CTGCAGGGGCCACGGACTCAC 0.692 3 15 --- --- --- --- PASS CEP63 80254 broad.mit.edu 37 3 134277097 134277097 + Silent SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr3:134277097G>T uc003eqo.1 + 14 2030 c.1581G>T c.(1579-1581)CTG>CTT p.L527L CEP63_uc003eql.1_Intron|CEP63_uc003eqm.2_Intron|CEP63_uc003eqn.1_Intron NM_025180 NP_079456 Q96MT8 CEP63_HUMAN centrosomal protein 63 isoform a 527 Potential. cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly centrosome|cytosol|spindle pole protein binding ovary(1) 1 AATCTCAGCTGGAGATTTCTA 0.343 17 75 --- --- --- --- PASS NCK1 4690 broad.mit.edu 37 3 136664723 136664723 + Silent SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr3:136664723G>T uc003erh.2 + 3 632 c.525G>T c.(523-525)CTG>CTT p.L175L NCK1_uc011bme.1_Silent_p.L111L NM_006153 NP_006144 P16333 NCK1_HUMAN NCK adaptor protein 1 175 axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway cytosol|endoplasmic reticulum|nucleus cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity pancreas(1) 1 TGGGTTCTCTGTCAGAGAAAT 0.458 39 151 --- --- --- --- PASS A4GNT 51146 broad.mit.edu 37 3 137843495 137843495 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr3:137843495C>A uc003ers.2 - 3 836 c.634G>T c.(634-636)GTT>TTT p.V212F NM_016161 NP_057245 Q9UNA3 A4GCT_HUMAN alpha-1,4-N-acetylglucosaminyltransferase 212 Lumenal (Potential). protein O-linked glycosylation Golgi membrane|Golgi stack|integral to membrane|membrane fraction acetylglucosaminyltransferase activity|galactosyltransferase activity central_nervous_system(1) 1 TAGTGTTCAACAAAGTTTTCC 0.473 31 93 --- --- --- --- PASS TM4SF1 4071 broad.mit.edu 37 3 149095211 149095211 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr3:149095211G>T uc003exb.1 - 1 358 c.124C>A c.(124-126)CAC>AAC p.H42N TM4SF1_uc003exc.1_5'Flank NM_014220 NP_055035 P30408 T4S1_HUMAN transmembrane 4 superfamily member 1 42 Extracellular (Probable). integral to plasma membrane 0 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) CGGCTGAGGTGGTTTTCGGAG 0.493 18 25 --- --- --- --- PASS VEPH1 79674 broad.mit.edu 37 3 157188205 157188205 + Silent SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr3:157188205C>A uc003fbj.1 - 3 569 c.252G>T c.(250-252)GGG>GGT p.G84G VEPH1_uc003fbk.1_Silent_p.G84G|VEPH1_uc010hvu.1_Silent_p.G84G|VEPH1_uc003fbm.2_Silent_p.G84G|VEPH1_uc003fbn.2_Silent_p.G84G NM_024621 NP_078897 Q14D04 MELT_HUMAN ventricular zone expressed PH domain homolog 1 84 plasma membrane breast(3)|ovary(1)|lung(1) 5 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) AGTCCCAGAGCCCCACAAGGG 0.453 7 139 --- --- --- --- PASS PEX5L 51555 broad.mit.edu 37 3 179592165 179592165 + Missense_Mutation SNP C T T rs146906651 TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr3:179592165C>T uc003fki.1 - 7 806 c.676G>A c.(676-678)GCC>ACC p.A226T PEX5L_uc011bqd.1_Missense_Mutation_p.A183T|PEX5L_uc011bqe.1_Missense_Mutation_p.A34T|PEX5L_uc011bqf.1_Missense_Mutation_p.A118T|PEX5L_uc003fkj.1_Missense_Mutation_p.A191T|PEX5L_uc010hxd.1_Missense_Mutation_p.A224T|PEX5L_uc011bqg.1_Missense_Mutation_p.A202T|PEX5L_uc011bqh.1_Missense_Mutation_p.A167T NM_016559 NP_057643 Q8IYB4 PEX5R_HUMAN peroxisomal biogenesis factor 5-like 226 A -> T (in a colorectal cancer sample; somatic mutation). protein import into peroxisome matrix|regulation of cAMP-mediated signaling cytosol|peroxisomal membrane peroxisome matrix targeting signal-1 binding p.A226T(1) ovary(3)|large_intestine(1) 4 all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183) OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518) GAGTTGAGGGCGCTTTTTCCA 0.393 11 60 --- --- --- --- PASS APOD 347 broad.mit.edu 37 3 195295819 195295819 + Silent SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr3:195295819G>T uc003fur.2 - 5 884 c.522C>A c.(520-522)GTC>GTA p.V174V NM_001647 NP_001638 P05090 APOD_HUMAN apolipoprotein D precursor 174 lipid metabolic process extracellular space lipid binding|lipid transporter activity|protein binding ovary(2) 2 all_cancers(143;1.8e-08)|Ovarian(172;0.0634) Lung NSC(153;0.191) Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128) GBM - Glioblastoma multiforme(46;1.66e-05) TCATTTTCTTGACATCAATGT 0.458 7 144 --- --- --- --- PASS GABRB1 2560 broad.mit.edu 37 4 47163480 47163480 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr4:47163480G>T uc003gxh.2 + 4 829 c.455G>T c.(454-456)GGA>GTA p.G152V GABRB1_uc011bze.1_Missense_Mutation_p.G82V NM_000812 NP_000803 P18505 GBRB1_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 152 Extracellular (Probable). synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2) 2 Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) GTTCTCTATGGACTCCGGTAA 0.388 34 26 --- --- --- --- PASS ATP10D 57205 broad.mit.edu 37 4 47584003 47584003 + Missense_Mutation SNP C G G TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr4:47584003C>G uc003gxk.1 + 21 3839 c.3675C>G c.(3673-3675)ATC>ATG p.I1225M ATP10D_uc003gxl.1_Missense_Mutation_p.I473M NM_020453 NP_065186 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 1225 Helical; (Potential). ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|pancreas(1) 3 ATACTGACATCTTTGCATTTG 0.463 9 117 --- --- --- --- PASS AASDH 132949 broad.mit.edu 37 4 57204811 57204811 + Silent SNP T G G TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr4:57204811T>G uc003hbn.2 - 15 3207 c.3054A>C c.(3052-3054)TCA>TCC p.S1018S AASDH_uc010ihb.2_Silent_p.S533S|AASDH_uc011caa.1_3'UTR|AASDH_uc003hbo.2_Silent_p.S918S|AASDH_uc011cab.1_Silent_p.S533S|AASDH_uc010ihc.2_3'UTR NM_181806 NP_861522 Q4L235 ACSF4_HUMAN aminoadipate-semialdehyde dehydrogenase 1018 fatty acid metabolic process acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding ovary(4) 4 Glioma(25;0.08)|all_neural(26;0.101) all_hematologic(202;0.0017) CATAGACCCTTGAAGTAGTTT 0.408 18 43 --- --- --- --- PASS ANK2 287 broad.mit.edu 37 4 114275283 114275283 + Missense_Mutation SNP G A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr4:114275283G>A uc003ibe.3 + 38 5609 c.5509G>A c.(5509-5511)GCA>ACA p.A1837T ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Missense_Mutation_p.A1852T NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 1804 Repeat A.|Repeat-rich region. axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) TTCCTCTTCCGCAAAAACTGA 0.507 4 84 --- --- --- --- PASS SYNPO2 171024 broad.mit.edu 37 4 119948592 119948592 + Silent SNP A G G rs137938917 by1000genomes TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr4:119948592A>G uc003icm.3 + 3 1264 c.1068A>G c.(1066-1068)GCA>GCG p.A356A SYNPO2_uc010ina.2_Silent_p.A356A|SYNPO2_uc010inb.2_Silent_p.A356A|SYNPO2_uc011cgh.1_Intron|SYNPO2_uc010inc.2_Silent_p.A284A NM_001128933 NP_001122405 Q9UMS6 SYNP2_HUMAN synaptopodin 2 isoform b 356 nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding ovary(2) 2 CGCGGCATGCACGTAAGTTCT 0.502 10 8 --- --- --- --- PASS FGF2 2247 broad.mit.edu 37 4 123797552 123797552 + Missense_Mutation SNP G C C TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr4:123797552G>C uc003iev.1 + 2 722 c.654G>C c.(652-654)ATG>ATC p.M218I NM_002006 NP_001997 P09038 FGF2_HUMAN fibroblast growth factor 2 218 activation of MAPK activity|branching involved in ureteric bud morphogenesis|cell migration involved in sprouting angiogenesis|chemotaxis|chondroblast differentiation|embryonic morphogenesis|fibroblast growth factor receptor signaling pathway|inositol phosphate biosynthetic process|insulin receptor signaling pathway|negative regulation of blood vessel endothelial cell migration|negative regulation of cell death|organ morphogenesis|phosphatidylinositol biosynthetic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cardiac muscle cell proliferation|positive regulation of cell division|positive regulation of cell fate specification|positive regulation of ERK1 and ERK2 cascade|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phospholipase C activity|Ras protein signal transduction|release of sequestered calcium ion into cytosol|wound healing extracellular space fibroblast growth factor receptor binding|growth factor activity|heparin binding|ligand-dependent nuclear receptor transcription coactivator activity ovary(1)|lung(1)|central_nervous_system(1) 3 Pentosan Polysulfate(DB00686) ACCTGGCTATGAAGGAAGATG 0.363 9 10 --- --- --- --- PASS NUDT6 11162 broad.mit.edu 37 4 123838817 123838817 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr4:123838817C>A uc003iew.2 - 2 313 c.281G>T c.(280-282)TGG>TTG p.W94L NUDT6_uc003iex.2_5'UTR NM_007083 NP_009014 P53370 NUDT6_HUMAN nudix-type motif 6 isoform a 94 mitochondrion|nucleus growth factor activity|hydrolase activity 0 AATGTGCAGCCATACAGCTGT 0.448 9 15 --- --- --- --- PASS FGA 2243 broad.mit.edu 37 4 155508748 155508748 + Silent SNP C T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr4:155508748C>T uc003iod.1 - 4 484 c.426G>A c.(424-426)AAG>AAA p.K142K FGA_uc003ioe.1_Silent_p.K142K|FGA_uc003iof.1_Silent_p.K142K NM_000508 NP_000499 P02671 FIBA_HUMAN fibrinogen, alpha polypeptide isoform alpha-E 142 By similarity. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding ovary(2)|breast(1) 3 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) TGACTTTGCGCTTCAGGACTT 0.413 26 37 --- --- --- --- PASS NAF1 92345 broad.mit.edu 37 4 164087748 164087748 + Silent SNP T C C TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr4:164087748T>C uc003iqj.2 - 1 326 c.132A>G c.(130-132)CTA>CTG p.L44L NAF1_uc010iqw.1_Silent_p.L44L|NAF1_uc003iqk.2_RNA NM_138386 NP_612395 Q96HR8 NAF1_HUMAN nuclear assembly factor 1 homolog isoform a 44 rRNA processing|snRNA pseudouridine synthesis cytoplasm|nucleus|small nucleolar ribonucleoprotein complex protein binding|snoRNA binding ovary(2) 2 all_hematologic(180;0.166) Prostate(90;0.109) CAAACGACTGTAGCGGCGGCT 0.662 6 3 --- --- --- --- PASS GPM6A 2823 broad.mit.edu 37 4 176594915 176594915 + Silent SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr4:176594915C>A uc003iuf.2 - 3 1107 c.303G>T c.(301-303)GTG>GTT p.V101V GPM6A_uc011ckj.1_Silent_p.V94V|GPM6A_uc003iug.2_Silent_p.V101V|GPM6A_uc003iuh.2_Silent_p.V90V NM_201591 NP_963885 P51674 GPM6A_HUMAN glycoprotein M6A isoform 2 101 Helical; (Potential). cell surface|integral to membrane 0 Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388) AGAAACCTTCCACCATCAGCA 0.423 18 13 --- --- --- --- PASS FAT1 2195 broad.mit.edu 37 4 187517903 187517903 + Nonsense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr4:187517903G>T uc003izf.2 - 25 12979 c.12791C>A c.(12790-12792)TCA>TAA p.S4264* FAT1_uc010isn.2_5'Flank|FAT1_uc003ize.2_Nonsense_Mutation_p.S155* NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 4264 Cytoplasmic (Potential). 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 ATTGTTTCTTGAGTCACTTGG 0.478 HNSCC(5;0.00058) 10 11 --- --- --- --- PASS FAT1 2195 broad.mit.edu 37 4 187538166 187538166 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr4:187538166C>A uc003izf.2 - 11 9256 c.9068G>T c.(9067-9069)TGT>TTT p.C3023F NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 3023 Extracellular (Potential).|Cadherin 27. 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 TACCTTTTCACAAACTGGACT 0.393 HNSCC(5;0.00058) 23 18 --- --- --- --- PASS FAT1 2195 broad.mit.edu 37 4 187584459 187584459 + Nonsense_Mutation SNP T A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr4:187584459T>A uc003izf.2 - 3 3762 c.3574A>T c.(3574-3576)AAA>TAA p.K1192* NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 1192 Extracellular (Potential).|Cadherin 10. 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 ATACCTGTTTTAGGATGTATT 0.224 HNSCC(5;0.00058) 9 8 --- --- --- --- PASS KIAA0947 23379 broad.mit.edu 37 5 5464632 5464632 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr5:5464632G>T uc003jdm.3 + 13 5407 c.5185G>T c.(5185-5187)GGC>TGC p.G1729C NM_015325 NP_056140 Q9Y2F5 K0947_HUMAN hypothetical protein LOC23379 1729 Pro-rich. ovary(1)|central_nervous_system(1) 2 TCCTGTGCCTGGCCGACTCCC 0.582 9 27 --- --- --- --- PASS CTNND2 1501 broad.mit.edu 37 5 11082905 11082905 + Silent SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr5:11082905G>T uc003jfa.1 - 16 2836 c.2691C>A c.(2689-2691)CTC>CTA p.L897L CTNND2_uc010itt.2_Silent_p.L806L|CTNND2_uc011cmy.1_Silent_p.L560L|CTNND2_uc011cmz.1_Silent_p.L464L|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Silent_p.L489L NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 897 ARM 8. multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1) 8 GCAGCTCCACGAGGATGGGCA 0.552 22 40 --- --- --- --- PASS TRIO 7204 broad.mit.edu 37 5 14331006 14331006 + Silent SNP A G G TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr5:14331006A>G uc003jff.2 + 10 1857 c.1851A>G c.(1849-1851)GCA>GCG p.A617A TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Silent_p.A568A|TRIO_uc003jfh.1_Silent_p.A266A NM_007118 NP_009049 O75962 TRIO_HUMAN triple functional domain (PTPRF interacting) 617 Spectrin 2. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1) 18 Lung NSC(4;0.000742) AAGAAGTGGCACAGGTAAAAC 0.398 32 79 --- --- --- --- PASS CDH18 1016 broad.mit.edu 37 5 19483489 19483489 + Silent SNP A G G TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr5:19483489A>G uc003jgc.2 - 11 2180 c.1803T>C c.(1801-1803)CAT>CAC p.H601H CDH18_uc003jgd.2_Silent_p.H601H|CDH18_uc011cnm.1_Missense_Mutation_p.M565T NM_004934 NP_004925 Q13634 CAD18_HUMAN cadherin 18, type 2 preproprotein 601 Extracellular (Potential).|Cadherin 5. 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) AGGCTTCTGCATGGCAGGTCC 0.517 9 14 --- --- --- --- PASS WDR70 55100 broad.mit.edu 37 5 37443371 37443371 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr5:37443371G>T uc003jkv.2 + 7 641 c.583G>T c.(583-585)GCC>TCC p.A195S WDR70_uc010iva.1_Missense_Mutation_p.A195S NM_018034 NP_060504 Q9NW82 WDR70_HUMAN WD repeat domain 70 195 WD 1. ovary(1)|central_nervous_system(1) 2 all_lung(31;0.000285) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TCCCTCAGGTGCCCGTTTGGT 0.413 11 33 --- --- --- --- PASS OSMR 9180 broad.mit.edu 37 5 38919142 38919142 + Silent SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr5:38919142C>A uc003jln.1 + 11 1930 c.1563C>A c.(1561-1563)GTC>GTA p.V521V OSMR_uc011cpj.1_5'UTR NM_003999 NP_003990 Q99650 OSMR_HUMAN oncostatin M receptor precursor 521 Fibronectin type-III 2.|Extracellular (Potential). cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 all_lung(31;0.000365) CTGTAATAGTCATCTCTGCAG 0.398 10 44 --- --- --- --- PASS ITGA2 3673 broad.mit.edu 37 5 52355737 52355737 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr5:52355737G>T uc003joy.2 + 11 1350 c.1207G>T c.(1207-1209)GGC>TGC p.G403C ITGA2_uc011cqa.1_RNA|ITGA2_uc011cqb.1_RNA|ITGA2_uc011cqc.1_Missense_Mutation_p.G327C|ITGA2_uc011cqd.1_RNA|ITGA2_uc011cqe.1_RNA NM_002203 NP_002194 P17301 ITA2_HUMAN integrin alpha 2 precursor 403 Extracellular (Potential).|FG-GAP 3. axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis integrin complex collagen binding|identical protein binding|receptor activity lung(1) 1 Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181) GGGAGCTTTTGGCTGGAGTGG 0.398 6 22 --- --- --- --- PASS SV2C 22987 broad.mit.edu 37 5 75427817 75427817 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr5:75427817G>T uc003kei.1 + 2 376 c.242G>T c.(241-243)GGG>GTG p.G81V NM_014979 NP_055794 Q496J9 SV2C_HUMAN synaptic vesicle glycoprotein 2C 81 Cytoplasmic (Potential). neurotransmitter transport cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity skin(1) 1 all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40) GCCACTGAGGGGCATGATGAA 0.527 9 12 --- --- --- --- PASS RASA1 5921 broad.mit.edu 37 5 86672323 86672323 + Nonsense_Mutation SNP C T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr5:86672323C>T uc003kiw.2 + 16 2243 c.2125C>T c.(2125-2127)CGA>TGA p.R709* RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Nonsense_Mutation_p.R532*|RASA1_uc011ctv.1_Nonsense_Mutation_p.R542*|RASA1_uc011ctw.1_Nonsense_Mutation_p.R543*|RASA1_uc010jaw.2_Nonsense_Mutation_p.R531* NM_002890 NP_002881 P20936 RASA1_HUMAN RAS p21 protein activator 1 isoform 1 709 cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis cytosol|intrinsic to internal side of plasma membrane glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding upper_aerodigestive_tract(3)|ovary(1)|lung(1) 5 all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423) OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31) CCTGCGTGTTCGAGCACGATA 0.398 29 20 --- --- --- --- PASS HARS 3035 broad.mit.edu 37 5 140056393 140056393 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr5:140056393G>T uc003lgv.2 - 10 1122 c.1040C>A c.(1039-1041)GCA>GAA p.A347E HARS_uc003lgu.2_Missense_Mutation_p.A278E|HARS_uc011czm.1_Missense_Mutation_p.A307E|HARS_uc003lgw.2_Missense_Mutation_p.A327E|HARS_uc011czn.1_Missense_Mutation_p.A287E|HARS_uc010jfu.2_Missense_Mutation_p.A347E|HARS_uc011czo.1_Missense_Mutation_p.A273E|HARS_uc011czp.1_Missense_Mutation_p.A233E|HARS_uc011czq.1_Missense_Mutation_p.A237E NM_002109 NP_002100 P12081 SYHC_HUMAN histidyl-tRNA synthetase 347 A -> E (in Ref. 2; CAA28956). histidyl-tRNA aminoacylation cytosol ATP binding|histidine-tRNA ligase activity ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) L-Histidine(DB00117) CTCTTCCCCTGCCTGGGCTGG 0.592 33 31 --- --- --- --- PASS PCDHB11 56125 broad.mit.edu 37 5 140580574 140580574 + Silent SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr5:140580574G>T uc003liy.2 + 1 1227 c.1227G>T c.(1225-1227)CTG>CTT p.L409L PCDHB11_uc011daj.1_Silent_p.L44L NM_018931 NP_061754 Q9Y5F2 PCDBB_HUMAN protocadherin beta 11 precursor 409 Extracellular (Potential).|Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding skin(3)|ovary(2)|upper_aerodigestive_tract(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGAGACCACTGGACAGAGAGA 0.488 13 43 --- --- --- --- PASS PCDHGB5 56101 broad.mit.edu 37 5 140778631 140778631 + Missense_Mutation SNP A G G TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr5:140778631A>G uc003lkf.1 + 1 937 c.937A>G c.(937-939)ATG>GTG p.M313V PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Missense_Mutation_p.M313V NM_018925 NP_061748 Q9Y5G0 PCDGH_HUMAN protocadherin gamma subfamily B, 5 isoform 1 313 Extracellular (Potential).|Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGAATATTCAATGGTTGTAGA 0.388 50 53 --- --- --- --- PASS SPINK5 11005 broad.mit.edu 37 5 147498010 147498010 + Missense_Mutation SNP C T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr5:147498010C>T uc003lox.2 + 23 2196 c.2123C>T c.(2122-2124)GCT>GTT p.A708V SPINK5_uc010jgs.1_Missense_Mutation_p.A680V|SPINK5_uc010jgr.2_Missense_Mutation_p.A689V|SPINK5_uc003low.2_Missense_Mutation_p.A708V|SPINK5_uc003loy.2_Missense_Mutation_p.A708V NM_006846 NP_006837 Q9NQ38 ISK5_HUMAN serine peptidase inhibitor, Kazal type 5 isoform 708 Kazal-like 11. anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm serine-type endopeptidase inhibitor activity skin(2)|ovary(1)|breast(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GACGAATGTGCTGAGTATCGG 0.418 3 46 --- --- --- --- PASS FAT2 2196 broad.mit.edu 37 5 150946862 150946862 + Missense_Mutation SNP C T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr5:150946862C>T uc003lue.3 - 1 1644 c.1631G>A c.(1630-1632)CGG>CAG p.R544Q GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Missense_Mutation_p.R544Q NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 544 Cadherin 4.|Extracellular (Potential). epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TTCCTTCTCCCGGCGAAAAGG 0.478 28 20 --- --- --- --- PASS OR2Y1 134083 broad.mit.edu 37 5 180166564 180166564 + Silent SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr5:180166564G>T uc003mmf.1 - 1 495 c.495C>A c.(493-495)GCC>GCA p.A165A NM_001001657 NP_001001657 Q8NGV0 OR2Y1_HUMAN olfactory receptor, family 2, subfamily Y, 165 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114) all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AGAGAGGCATGGCCATTGCGA 0.547 4 19 --- --- --- --- PASS BTNL3 10917 broad.mit.edu 37 5 180419856 180419856 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr5:180419856G>T uc003mmr.2 + 2 221 c.93G>T c.(91-93)TTG>TTT p.L31F NM_197975 NP_932079 Q6UXE8 BTNL3_HUMAN butyrophilin-like 3 precursor 31 Extracellular (Potential). lipid metabolic process integral to membrane 0 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272) TCCAGGCCTTGGTGGGGGAGG 0.542 5 47 --- --- --- --- PASS MYLK4 340156 broad.mit.edu 37 6 2679591 2679591 + Silent SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr6:2679591G>T uc003mty.3 - 9 1107 c.810C>A c.(808-810)CTC>CTA p.L270L MYLK4_uc003mtx.3_5'UTR NM_001012418 NP_001012418 Q86YV6 MYLK4_HUMAN myosin light chain kinase family, member 4 270 Protein kinase. ATP binding|protein serine/threonine kinase activity breast(3)|ovary(1) 4 Ovarian(93;0.0412) all_hematologic(90;0.0897) CTTCAGGGGCGAGAAATTCTG 0.453 51 131 --- --- --- --- PASS ZFP57 346171 broad.mit.edu 37 6 29640440 29640440 + Missense_Mutation SNP A T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr6:29640440A>T uc011dlw.1 - 4 1599 c.1448T>A c.(1447-1449)CTT>CAT p.L483H ZFP57_uc003nnl.3_Missense_Mutation_p.L463H NM_001109809 NP_001103279 Q9NU63 ZFP57_HUMAN zinc finger protein 57 homolog 399 DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent DNA binding|zinc ion binding ovary(3)|skin(2) 5 AGAGAAGCCAAGCCACTGGCC 0.572 22 31 --- --- --- --- PASS C6orf15 29113 broad.mit.edu 37 6 31079659 31079659 + Silent SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr6:31079659G>T uc003nsk.1 - 2 477 c.477C>A c.(475-477)GCC>GCA p.A159A PSORS1C1_uc003nsl.1_5'Flank|PSORS1C1_uc010jsj.1_5'Flank NM_014070 NP_054789 Q6UXA7 CF015_HUMAN STG protein precursor 159 0 AGAGGCCTGTGGCATCGGGAG 0.627 18 23 --- --- --- --- PASS TAP2 6891 broad.mit.edu 37 6 32805735 32805735 + Silent SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr6:32805735G>T uc003occ.2 - 1 307 c.276C>A c.(274-276)GCC>GCA p.A92A TAP2_uc011dqf.1_Silent_p.A92A|TAP2_uc003ocb.1_Silent_p.A92A|TAP2_uc003ocd.2_Silent_p.A92A NM_018833 NP_061313 Q03519 TAP2_HUMAN transporter 2, ATP-binding cassette, sub-family 92 Lumenal (Potential). antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity nucleus|plasma membrane|TAP complex ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding 0 AAGCGACTCTGGCTGGGGGAG 0.687 12 34 --- --- --- --- PASS COL11A2 1302 broad.mit.edu 37 6 33146095 33146095 + Missense_Mutation SNP G C C TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr6:33146095G>C uc003ocx.1 - 20 2036 c.1808C>G c.(1807-1809)CCT>CGT p.P603R COL11A2_uc010jul.1_5'Flank|COL11A2_uc003ocy.1_Missense_Mutation_p.P517R|COL11A2_uc003ocz.1_Missense_Mutation_p.P496R NM_080680 NP_542411 P13942 COBA2_HUMAN collagen, type XI, alpha 2 isoform 1 603 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging ovary(3)|skin(2) 5 CGACTCTCCAGGCAGCCCTCG 0.612 16 37 --- --- --- --- PASS TAPBP 6892 broad.mit.edu 37 6 33281789 33281789 + Silent SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr6:33281789C>A uc003odx.1 - 1 201 c.30G>T c.(28-30)GTG>GTT p.V10V TAPBP_uc010jus.1_Silent_p.V10V|TAPBP_uc003ody.2_Silent_p.V10V|TAPBP_uc003odz.2_Silent_p.V10V|TAPBP_uc010jut.1_Silent_p.V10V|TAPBP_uc011drc.1_Silent_p.V10V NM_003190 NP_003181 O15533 TPSN_HUMAN tapasin isoform 1 precursor 10 antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|MHC class I peptide loading complex|microsome MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding ovary(1) 1 CACCCAAAGCCACAGCGAGGA 0.627 18 36 --- --- --- --- PASS PIM1 5292 broad.mit.edu 37 6 37138631 37138631 + Silent SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr6:37138631C>A uc003onk.2 + 2 595 c.165C>A c.(163-165)GGC>GGA p.G55G PIM1_uc011dtw.1_5'Flank NM_002648 NP_002639 P11309 PIM1_HUMAN non-specific serine/threonine protein kinase 146 Protein kinase. cell cycle|cell proliferation|multicellular organismal development|negative regulation of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|protein autophosphorylation cytoplasm|nucleus|plasma membrane ATP binding|manganese ion binding|protein binding|protein binding|protein serine/threonine kinase activity|transcription factor binding large_intestine(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(102;0.241) Adenosine monophosphate(DB00131) TCTACTCAGGCATCCGCGTCT 0.517 T BCL6 NHL 4 17 --- --- --- --- PASS MDGA1 266727 broad.mit.edu 37 6 37611679 37611679 + Silent SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr6:37611679C>A uc003onu.1 - 14 3621 c.2442G>T c.(2440-2442)CTG>CTT p.L814L MDGA1_uc003onv.1_Silent_p.L83L NM_153487 NP_705691 Q8NFP4 MDGA1_HUMAN MAM domain containing 814 MAM. brain development|neuron migration|spinal cord association neuron differentiation anchored to plasma membrane central_nervous_system(2) 2 CACGGTCCCCCAGCTCCCGAG 0.572 11 15 --- --- --- --- PASS KCNK16 83795 broad.mit.edu 37 6 39285661 39285661 + Silent SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr6:39285661G>T uc003ooq.2 - 3 410 c.396C>A c.(394-396)GGC>GGA p.G132G KCNK16_uc003oor.3_Silent_p.G132G|KCNK16_uc010jwy.2_Silent_p.G132G|KCNK16_uc011dtz.1_Silent_p.G132G NM_032115 NP_115491 Q96T55 KCNKG_HUMAN potassium channel, subfamily K, member 16 132 Helical; (Potential). integral to membrane potassium channel activity|voltage-gated ion channel activity ovary(2)|skin(1) 3 TAAGCGGGATGCCCAACAGGG 0.602 6 11 --- --- --- --- PASS PTK7 5754 broad.mit.edu 37 6 43126659 43126659 + Silent SNP A G G TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr6:43126659A>G uc003oub.1 + 18 3024 c.2826A>G c.(2824-2826)AGA>AGG p.R942R PTK7_uc003ouc.1_Silent_p.R886R|PTK7_uc003oud.1_Silent_p.R902R|PTK7_uc003oue.1_Silent_p.R812R|PTK7_uc003ouf.1_RNA|PTK7_uc003oug.1_RNA|PTK7_uc011dve.1_Silent_p.R950R|PTK7_uc010jyj.1_Silent_p.R268R|PTK7_uc003ouh.1_5'Flank NM_002821 NP_002812 Q13308 PTK7_HUMAN PTK7 protein tyrosine kinase 7 isoform a 942 Cytoplasmic (Potential).|Protein kinase; inactive.|Interaction with CTNNB1. actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration cell-cell junction|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ovary(2)|large_intestine(1) 3 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423) GTGCCCAGAGACAAGTGAAGG 0.592 10 29 --- --- --- --- PASS AARS2 57505 broad.mit.edu 37 6 44272023 44272023 + Silent SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr6:44272023G>T uc010jza.1 - 14 1905 c.1902C>A c.(1900-1902)GCC>GCA p.A634A SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron NM_020745 NP_065796 Q5JTZ9 SYAM_HUMAN alanyl-tRNA synthetase 2, mitochondrial 634 alanyl-tRNA aminoacylation mitochondrion alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding ovary(1) 1 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) L-Alanine(DB00160) GCAGGTGGGTGGCCGTATGCT 0.627 OREG0017473 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 53 --- --- --- --- PASS COL21A1 81578 broad.mit.edu 37 6 55924040 55924040 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr6:55924040C>A uc003pcs.2 - 29 2841 c.2609G>T c.(2608-2610)GGC>GTC p.G870V COL21A1_uc010jzz.2_Missense_Mutation_p.G255V|COL21A1_uc011dxg.1_Missense_Mutation_p.G243V|COL21A1_uc011dxh.1_Missense_Mutation_p.G221V|COL21A1_uc003pcr.2_Missense_Mutation_p.G227V NM_030820 NP_110447 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 precursor 870 Collagen-like 6. cell adhesion collagen|cytoplasm structural molecule activity ovary(2) 2 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) TCCTGGTAGGCCTGCAGGGTG 0.433 4 22 --- --- --- --- PASS ZNF451 26036 broad.mit.edu 37 6 57012772 57012772 + Missense_Mutation SNP G C C TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr6:57012772G>C uc003pdm.1 + 10 2113 c.1889G>C c.(1888-1890)AGC>ACC p.S630T ZNF451_uc003pdl.2_Missense_Mutation_p.S630T|ZNF451_uc003pdn.1_Missense_Mutation_p.S630T|uc003pdq.1_Intron|ZNF451_uc003pdk.1_Missense_Mutation_p.S630T NM_001031623 NP_001026794 Q9Y4E5 ZN451_HUMAN zinc finger protein 451 isoform 1 630 C2H2-type 7; atypical. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(1)|pancreas(1) 2 Lung NSC(77;0.145) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) TCTTTGGCAAGCCACAAGTTT 0.423 32 61 --- --- --- --- PASS MDN1 23195 broad.mit.edu 37 6 90435040 90435040 + Nonsense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr6:90435040C>A uc003pnn.1 - 38 5664 c.5548G>T c.(5548-5550)GAG>TAG p.E1850* NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 1850 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) ATTCCTAACTCAGGCACATAG 0.433 16 47 --- --- --- --- PASS MDN1 23195 broad.mit.edu 37 6 90504480 90504480 + Missense_Mutation SNP G C C TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr6:90504480G>C uc003pnn.1 - 3 486 c.370C>G c.(370-372)CAA>GAA p.Q124E MDN1_uc003pnp.1_Missense_Mutation_p.Q124E NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 124 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) AAAAGTCTTTGAAAGACTGGG 0.353 8 64 --- --- --- --- PASS BACH2 60468 broad.mit.edu 37 6 90660400 90660400 + Silent SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr6:90660400G>T uc011eab.1 - 7 2234 c.1425C>A c.(1423-1425)CCC>CCA p.P475P BACH2_uc003pnw.2_Silent_p.P475P|BACH2_uc010kch.2_Silent_p.P475P NM_021813 NP_068585 Q9BYV9 BACH2_HUMAN BTB and CNC homology 1, basic leucine zipper 475 nucleus protein dimerization activity|sequence-specific DNA binding ovary(3)|pancreas(1)|lung(1)|skin(1) 6 all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063) BRCA - Breast invasive adenocarcinoma(108;0.0799) CCTGCGAGCTGGGGAGGGACT 0.627 11 26 --- --- --- --- PASS C6orf167 253714 broad.mit.edu 37 6 97681743 97681743 + Silent SNP C T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr6:97681743C>T uc003ppb.2 - 12 1562 c.1296G>A c.(1294-1296)AAG>AAA p.K432K C6orf167_uc011eaf.1_Intron|C6orf167_uc010kcn.1_Silent_p.K206K|C6orf167_uc010kco.1_Silent_p.K168K NM_198468 NP_940870 Q6ZRQ5 MMS22_HUMAN hypothetical protein LOC253714 432 double-strand break repair via homologous recombination|replication fork processing nuclear replication fork protein binding 0 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198) BRCA - Breast invasive adenocarcinoma(108;0.0457) TCACCAGGTTCTTACTATAAT 0.308 21 51 --- --- --- --- PASS FYN 2534 broad.mit.edu 37 6 111995730 111995730 + Silent SNP C A A rs142448026 TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr6:111995730C>A uc003pvj.2 - 12 1717 c.1377G>T c.(1375-1377)CTG>CTT p.L459L FYN_uc003pvi.2_Silent_p.L404L|FYN_uc003pvk.2_Silent_p.L459L|FYN_uc003pvh.2_Silent_p.L456L NM_002037 NP_002028 P06241 FYN_HUMAN protein-tyrosine kinase fyn isoform a 459 Protein kinase. axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytosol|endosome|plasma membrane ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity lung(5)|central_nervous_system(1)|skin(1) 7 all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211) all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102) Dasatinib(DB01254) CTTTGGTGACCAGCTCTGTGA 0.522 40 113 --- --- --- --- PASS FYN 2534 broad.mit.edu 37 6 111995731 111995731 + Missense_Mutation SNP A G G TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr6:111995731A>G uc003pvj.2 - 12 1716 c.1376T>C c.(1375-1377)CTG>CCG p.L459P FYN_uc003pvi.2_Missense_Mutation_p.L404P|FYN_uc003pvk.2_Missense_Mutation_p.L459P|FYN_uc003pvh.2_Missense_Mutation_p.L456P NM_002037 NP_002028 P06241 FYN_HUMAN protein-tyrosine kinase fyn isoform a 459 Protein kinase. axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytosol|endosome|plasma membrane ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity lung(5)|central_nervous_system(1)|skin(1) 7 all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211) all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102) Dasatinib(DB01254) TTTGGTGACCAGCTCTGTGAG 0.522 39 113 --- --- --- --- PASS ROS1 6098 broad.mit.edu 37 6 117622242 117622242 + Nonsense_Mutation SNP T A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr6:117622242T>A uc003pxp.1 - 42 6827 c.6628A>T c.(6628-6630)AGA>TGA p.R2210* ROS1_uc011ebi.1_RNA NM_002944 NP_002935 P08922 ROS_HUMAN proto-oncogene c-ros-1 protein precursor 2210 Protein kinase.|Cytoplasmic (Potential). transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1) 25 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) TCCTGAATTCTATGAAAAGTA 0.363 T GOPC|ROS1 glioblastoma|NSCLC 29 82 --- --- --- --- PASS TAAR1 134864 broad.mit.edu 37 6 132967003 132967003 + Missense_Mutation SNP G C C rs149785438 TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr6:132967003G>C uc003qdm.1 - 1 140 c.140C>G c.(139-141)TCT>TGT p.S47C NM_138327 NP_612200 Q96RJ0 TAAR1_HUMAN trace amine associated receptor 1 47 Cytoplasmic (Potential). plasma membrane 0 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154) Amphetamine(DB00182) GTGTGATATAGAAACAATAAC 0.423 32 101 --- --- --- --- PASS UTRN 7402 broad.mit.edu 37 6 145119013 145119013 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr6:145119013G>T uc003qkt.2 + 63 9224 c.9132G>T c.(9130-9132)TTG>TTT p.L3044F NM_007124 NP_009055 P46939 UTRO_HUMAN utrophin 3044 Interaction with SYNM. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding ovary(4)|pancreas(1) 5 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) GGATGCATTTGGAACCACAGT 0.373 18 41 --- --- --- --- PASS FNDC1 84624 broad.mit.edu 37 6 159653965 159653965 + Silent SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr6:159653965G>T uc010kjv.2 + 11 2621 c.2421G>T c.(2419-2421)ACG>ACT p.T807T FNDC1_uc010kjw.1_Silent_p.T692T NM_032532 NP_115921 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 807 extracellular region large_intestine(4)|ovary(3)|central_nervous_system(1) 8 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) CGGCCCAGACGCTGCGGGCCC 0.647 3 9 --- --- --- --- PASS TNRC18 84629 broad.mit.edu 37 7 5352366 5352366 + Missense_Mutation SNP T A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr7:5352366T>A uc003soi.3 - 27 8505 c.8156A>T c.(8155-8157)AAG>ATG p.K2719M NM_001080495 NP_001073964 O15417 TNC18_HUMAN trinucleotide repeat containing 18 2719 DNA binding 0 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) GGGCGTCTTCTTGCCTGGGGA 0.756 8 7 --- --- --- --- PASS HDAC9 9734 broad.mit.edu 37 7 18788634 18788634 + Missense_Mutation SNP C T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr7:18788634C>T uc003suh.2 + 13 1948 c.1907C>T c.(1906-1908)GCC>GTC p.A636V HDAC9_uc003sue.2_Missense_Mutation_p.A636V|HDAC9_uc011jyd.1_Missense_Mutation_p.A636V|HDAC9_uc003sui.2_Missense_Mutation_p.A639V|HDAC9_uc003suj.2_Missense_Mutation_p.A595V|HDAC9_uc003sua.1_Missense_Mutation_p.A614V|HDAC9_uc010kue.1_Missense_Mutation_p.A291V NM_058176 NP_478056 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 isoform 1 636 Histone deacetylase. B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity lung(2)|central_nervous_system(2)|kidney(1) 5 all_lung(11;0.187) Valproic Acid(DB00313) AAAGGAATTGCCTATGACCCC 0.423 12 15 --- --- --- --- PASS FKBP14 55033 broad.mit.edu 37 7 30066010 30066010 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr7:30066010G>T uc003tal.1 - 1 259 c.115C>A c.(115-117)CAT>AAT p.H39N PLEKHA8_uc003tao.2_5'Flank|PLEKHA8_uc003tap.1_5'Flank|FKBP14_uc010kvq.1_RNA|PLEKHA8_uc003tam.1_5'Flank|PLEKHA8_uc003tan.2_5'Flank NM_017946 NP_060416 Q9NWM8 FKB14_HUMAN FK506 binding protein 14 precursor 39 protein folding endoplasmic reticulum lumen|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity 0 GTCTTGCGATGGCAGATGAAT 0.468 21 57 --- --- --- --- PASS NPC1L1 29881 broad.mit.edu 37 7 44560416 44560416 + Silent SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr7:44560416G>T uc003tlb.2 - 14 3140 c.3084C>A c.(3082-3084)GGC>GGA p.G1028G NPC1L1_uc003tlc.2_Silent_p.G1028G|NPC1L1_uc011kbw.1_Silent_p.G982G|NPC1L1_uc003tla.2_Silent_p.G31G NM_013389 NP_037521 Q9UHC9 NPCL1_HUMAN Niemann-Pick C1-like protein 1 isoform 1 1028 Cytoplasmic (Potential). cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding ovary(3)|central_nervous_system(1)|skin(1) 5 Ezetimibe(DB00973) ATGCTGCCAGGCCGCTGCAAG 0.577 30 45 --- --- --- --- PASS ABCA13 154664 broad.mit.edu 37 7 48319311 48319311 + Silent SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr7:48319311C>A uc003toq.2 + 18 8545 c.8520C>A c.(8518-8520)TCC>TCA p.S2840S ABCA13_uc010kys.1_5'Flank NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 2840 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 GGATAACTTCCACAAGAACTT 0.353 39 58 --- --- --- --- PASS ABCA13 154664 broad.mit.edu 37 7 48338050 48338050 + Missense_Mutation SNP A G G TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr7:48338050A>G uc003toq.2 + 23 9312 c.9287A>G c.(9286-9288)CAT>CGT p.H3096R ABCA13_uc010kys.1_Missense_Mutation_p.H170R NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 3096 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 GAGACTATCCATAGCATTCTA 0.418 15 32 --- --- --- --- PASS TPST1 8460 broad.mit.edu 37 7 65705968 65705968 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr7:65705968G>T uc003tuw.2 + 2 908 c.556G>T c.(556-558)GGC>TGC p.G186C TPST1_uc010kzy.2_Intron|TPST1_uc010kzz.2_Missense_Mutation_p.G186C|TPST1_uc010laa.2_Missense_Mutation_p.G186C NM_003596 NP_003587 O60507 TPST1_HUMAN tyrosylprotein sulfotransferase 1 186 Lumenal (Potential). inflammatory response|peptidyl-tyrosine sulfation Golgi membrane|integral to membrane|membrane fraction protein-tyrosine sulfotransferase activity 0 GGTCCGAGATGGCCGGGCATC 0.398 25 52 --- --- --- --- PASS POM121C 100101267 broad.mit.edu 37 7 75051285 75051285 + Silent SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr7:75051285G>T uc003udk.3 - 13 3135 c.2250C>A c.(2248-2250)TCC>TCA p.S750S NM_001099415 NP_001092885 A8CG34 P121C_HUMAN POM121 membrane glycoprotein (rat)-like 992 Pore side (Potential). mRNA transport|protein transport|transmembrane transport endoplasmic reticulum membrane|nuclear membrane|nuclear pore protein binding 0 TCTTGATCGTGGACGCAGGTG 0.632 7 21 --- --- --- --- PASS HIP1 3092 broad.mit.edu 37 7 75171269 75171269 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr7:75171269G>T uc003uds.1 - 29 2962 c.2921C>A c.(2920-2922)ACA>AAA p.T974K HIP1_uc011kfz.1_Missense_Mutation_p.T800K NM_005338 NP_005329 O00291 HIP1_HUMAN huntingtin interacting protein 1 974 I/LWEQ. activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1) 8 TTTGATCTGTGTCAGCGTCAT 0.468 T PDGFRB CMML 7 98 --- --- --- --- PASS PCLO 27445 broad.mit.edu 37 7 82764257 82764257 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr7:82764257G>T uc003uhx.2 - 3 2898 c.2609C>A c.(2608-2610)CCA>CAA p.P870Q PCLO_uc003uhv.2_Missense_Mutation_p.P870Q NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 816 Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 TTTTGGCATTGGCTTGGCATC 0.517 67 143 --- --- --- --- PASS GRM3 2913 broad.mit.edu 37 7 86468253 86468253 + Missense_Mutation SNP G A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr7:86468253G>A uc003uid.2 + 4 2522 c.1423G>A c.(1423-1425)GGT>AGT p.G475S GRM3_uc010lef.2_Intron|GRM3_uc010leg.2_Missense_Mutation_p.G347S|GRM3_uc010leh.2_Missense_Mutation_p.G67S NM_000840 NP_000831 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 precursor 475 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) CCAAAATGTAGGTGGAAAGTA 0.443 14 13 --- --- --- --- PASS GJC3 349149 broad.mit.edu 37 7 99526808 99526808 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr7:99526808C>A uc011kjd.1 - 1 436 c.436G>T c.(436-438)GTC>TTC p.V146F NM_181538 NP_853516 Q8NFK1 CXG3_HUMAN gap junction protein, gamma 3, 30.2kDa 146 Helical; (Potential). connexon complex|integral to membrane ovary(1) 1 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) CCCTCCAGGACAAGCCGAGCC 0.617 26 61 --- --- --- --- PASS STAG3 10734 broad.mit.edu 37 7 99786584 99786584 + Silent SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr7:99786584C>A uc003utx.1 + 7 815 c.660C>A c.(658-660)CTC>CTA p.L220L STAG3_uc010lgs.1_Silent_p.L8L|STAG3_uc011kjk.1_Silent_p.L162L NM_012447 NP_036579 Q9UJ98 STAG3_HUMAN stromal antigen 3 220 chromosome segregation|synaptonemal complex assembly chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex binding ovary(4)|skin(2)|lung(1)|kidney(1) 8 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TCTCCCTGCTCACTGGCCTCT 0.527 18 62 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 7 100552385 100552385 + RNA SNP C T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr7:100552385C>T uc003uxk.1 + 1 c.1636C>T uc003uxl.1_Missense_Mutation_p.T279I Homo sapiens MUC3B mRNA for intestinal mucin, partial cds. ACTACTCTTACTACATATATG 0.473 71 202 --- --- --- --- PASS C7orf52 375607 broad.mit.edu 37 7 100817922 100817922 + Missense_Mutation SNP A G G TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr7:100817922A>G uc003uxy.1 - 2 406 c.167T>C c.(166-168)GTG>GCG p.V56A C7orf52_uc003uxz.1_Missense_Mutation_p.V56A|C7orf52_uc003uya.1_Missense_Mutation_p.V56A|C7orf52_uc003uyb.1_Missense_Mutation_p.V56A NM_198571 NP_940973 Q8N8M0 CG052_HUMAN hypothetical protein LOC375607 56 N-acetyltransferase. N-acetyltransferase activity ovary(1) 1 Lung NSC(181;0.168)|all_lung(186;0.215) CGTGGCCACCACGAAGTCCAA 0.662 9 51 --- --- --- --- PASS RINT1 60561 broad.mit.edu 37 7 105177043 105177043 + Silent SNP T C C TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr7:105177043T>C uc003vda.1 + 3 351 c.120T>C c.(118-120)AGT>AGC p.S40S RINT1_uc010ljj.1_5'UTR NM_021930 NP_068749 Q6NUQ1 RINT1_HUMAN RAD50 interactor 1 40 cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport endoplasmic reticulum membrane protein binding ovary(3)|central_nervous_system(1) 4 TTATTGGAAGTAAACAAGTCA 0.318 5 138 --- --- --- --- PASS COG5 10466 broad.mit.edu 37 7 107002556 107002556 + Splice_Site SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr7:107002556C>A uc003ved.2 - 10 1567 c.1042_splice c.e10-1 p.V348_splice COG5_uc003vec.2_Splice_Site_p.V348_splice|COG5_uc003vee.2_Splice_Site_p.V348_splice NM_181733 NP_859422 Q9UP83 COG5_HUMAN component of oligomeric golgi complex 5 isoform intra-Golgi vesicle-mediated transport|protein transport cytosol|Golgi membrane|Golgi transport complex|nucleus protein binding central_nervous_system(2)|skin(2) 4 GATGTTGTACCTTAAATGAAA 0.318 6 16 --- --- --- --- PASS LAMB4 22798 broad.mit.edu 37 7 107746981 107746981 + Missense_Mutation SNP C T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr7:107746981C>T uc010ljo.1 - 7 712 c.628G>A c.(628-630)GAA>AAA p.E210K LAMB4_uc003vey.2_Missense_Mutation_p.E210K NM_007356 NP_031382 A4D0S4 LAMB4_HUMAN laminin, beta 4 precursor 210 Laminin N-terminal. cell adhesion basement membrane ovary(4)|breast(2)|large_intestine(1)|skin(1) 8 TAAGGGTTTTCAATTTCAAAA 0.289 11 24 --- --- --- --- PASS C7orf58 79974 broad.mit.edu 37 7 120780971 120780971 + Missense_Mutation SNP A T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr7:120780971A>T uc003vjq.3 + 15 2237 c.1790A>T c.(1789-1791)TAC>TTC p.Y597F C7orf58_uc003vjs.3_Missense_Mutation_p.Y597F|C7orf58_uc003vjt.3_Missense_Mutation_p.Y377F NM_024913 NP_079189 A4D0V7 CG058_HUMAN hypothetical protein LOC79974 isoform 1 597 endoplasmic reticulum ovary(4)|large_intestine(2)|skin(2)|pancreas(1) 9 all_neural(327;0.117) AAAGATTATTACTGTGAAGTC 0.413 15 32 --- --- --- --- PASS CPA1 1357 broad.mit.edu 37 7 130021492 130021492 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr7:130021492G>T uc003vpx.2 + 3 241 c.169G>T c.(169-171)GCC>TCC p.A57S CPA1_uc011kpf.1_Intron|CPA1_uc003vpw.2_Missense_Mutation_p.A57S NM_001868 NP_001859 P15085 CBPA1_HUMAN carboxypeptidase A1 precursor 57 proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding ovary(1) 1 Melanoma(18;0.0435) GCGGGGGCCTGCCCACCCTGG 0.667 4 31 --- --- --- --- PASS PLXNA4 91584 broad.mit.edu 37 7 131853253 131853253 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr7:131853253G>T uc003vra.3 - 22 4325 c.4096C>A c.(4096-4098)CTG>ATG p.L1366M NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 1366 Cytoplasmic (Potential). integral to membrane|intracellular|plasma membrane ovary(1) 1 ATGAAGGACAGCAGGAACACC 0.602 20 21 --- --- --- --- PASS DGKI 9162 broad.mit.edu 37 7 137270076 137270076 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr7:137270076G>T uc003vtt.2 - 14 1443 c.1442C>A c.(1441-1443)CCT>CAT p.P481H DGKI_uc003vtu.2_Missense_Mutation_p.P181H NM_004717 NP_004708 O75912 DGKI_HUMAN diacylglycerol kinase, iota 481 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(1)|kidney(1)|skin(1) 3 CTTAGAAACAGGTTCATCAGT 0.478 21 43 --- --- --- --- PASS DGKI 9162 broad.mit.edu 37 7 137304674 137304674 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr7:137304674C>A uc003vtt.2 - 8 890 c.889G>T c.(889-891)GTG>TTG p.V297L DGKI_uc003vtu.2_5'UTR NM_004717 NP_004708 O75912 DGKI_HUMAN diacylglycerol kinase, iota 297 Phorbol-ester/DAG-type 2. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(1)|kidney(1)|skin(1) 3 AAGCAGGTCACCTTATTGTGA 0.408 29 52 --- --- --- --- PASS CNTNAP2 26047 broad.mit.edu 37 7 146829579 146829579 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr7:146829579G>T uc003weu.1 + 8 1842 c.1326G>T c.(1324-1326)ATG>ATT p.M442I NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 442 Extracellular (Potential).|Laminin G-like 2. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) AGACCAAGATGAGCCAAATCG 0.403 HNSCC(39;0.1) 20 45 --- --- --- --- PASS REPIN1 29803 broad.mit.edu 37 7 150069192 150069192 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr7:150069192G>T uc010lpq.1 + 4 1351 c.862G>T c.(862-864)GGC>TGC p.G288C REPIN1_uc003whd.2_Missense_Mutation_p.G277C|REPIN1_uc010lpr.1_Missense_Mutation_p.G345C|REPIN1_uc003whc.2_Missense_Mutation_p.G288C|REPIN1_uc003whe.2_Missense_Mutation_p.G288C NM_013400 NP_037532 Q9BWE0 REPI1_HUMAN replication initiator 1 isoform 1 288 DNA replication nuclear origin of replication recognition complex DNA binding|zinc ion binding pancreas(1) 1 Ovarian(565;0.183)|Melanoma(164;0.226) OV - Ovarian serous cystadenocarcinoma(82;0.011) CATCCACACCGGCGAGAAGCC 0.657 6 8 --- --- --- --- PASS C8orf58 541565 broad.mit.edu 37 8 22458472 22458472 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr8:22458472G>T uc003xce.2 + 2 230 c.118G>T c.(118-120)GCC>TCC p.A40S C8orf58_uc011kzl.1_Missense_Mutation_p.A40S|C8orf58_uc003xcf.2_Missense_Mutation_p.A40S NM_001013842 NP_001013864 Q8NAV2 CH058_HUMAN hypothetical protein LOC541565 40 skin(1) 1 Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142) BRCA - Breast invasive adenocarcinoma(99;0.00563)|Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608) CCCCGACGCTGCCCACGGGTG 0.632 16 8 --- --- --- --- PASS EPHX2 2053 broad.mit.edu 37 8 27358525 27358525 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr8:27358525C>A uc003xfu.2 + 2 265 c.184C>A c.(184-186)CAG>AAG p.Q62K EPHX2_uc010lut.1_Missense_Mutation_p.Q62K|EPHX2_uc010luu.2_Missense_Mutation_p.Q62K|EPHX2_uc010luv.2_5'UTR|EPHX2_uc003xfv.2_Missense_Mutation_p.Q9K|EPHX2_uc010luw.2_Intron NM_001979 NP_001970 P34913 HYES_HUMAN epoxide hydrolase 2, cytoplasmic 62 Phosphatase. aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction epoxide hydrolase activity|metal ion binding|protein homodimerization activity ovary(1) 1 Ovarian(32;2.61e-05)|all_epithelial(46;0.207) UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157) Tamoxifen(DB00675) CACACTTTCCCAGGTGAGGGG 0.522 21 40 --- --- --- --- PASS FZD3 7976 broad.mit.edu 37 8 28385175 28385175 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr8:28385175G>T uc003xgx.2 + 5 1376 c.898G>T c.(898-900)GGC>TGC p.G300C FZD3_uc010lvb.2_Missense_Mutation_p.G300C NM_017412 NP_059108 Q9NPG1 FZD3_HUMAN frizzled 3 precursor 300 Helical; Name=3; (Potential). canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding ovary(1)|central_nervous_system(1) 2 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23) TACTATGGCTGGCAGTGTATG 0.413 14 79 --- --- --- --- PASS UBXN8 7993 broad.mit.edu 37 8 30623785 30623785 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr8:30623785C>A uc003xii.2 + 10 705 c.688C>A c.(688-690)CTA>ATA p.L230I UBXN8_uc010lvi.2_3'UTR|UBXN8_uc011lbb.1_RNA|UBXN8_uc003xij.2_RNA NM_005671 NP_005662 O00124 UBXN8_HUMAN reproduction 8 230 UBX. single fertilization 0 CCACATATCTCTATACAGCCT 0.458 12 29 --- --- --- --- PASS PURG 29942 broad.mit.edu 37 8 30889972 30889972 + Silent SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr8:30889972C>A uc003xin.2 - 1 346 c.327G>T c.(325-327)CTG>CTT p.L109L WRN_uc003xio.3_5'Flank|PURG_uc003xim.1_Silent_p.L109L NM_013357 NP_037489 Q9UJV8 PURG_HUMAN purine-rich element binding protein G isoform A 109 By similarity. nucleus DNA binding 0 KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108) CTGCCACAGACAGGGAGAGGG 0.577 15 63 --- --- --- --- PASS STAR 6770 broad.mit.edu 37 8 38005748 38005748 + Missense_Mutation SNP G C C TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr8:38005748G>C uc003xkv.1 - 3 540 c.276C>G c.(274-276)AAC>AAG p.N92K STAR_uc010lwc.1_Missense_Mutation_p.N54K NM_001007243 NP_001007244 P49675 STAR_HUMAN steroidogenic acute regulatory protein isoform 92 START. C21-steroid hormone biosynthetic process mitochondrial intermembrane space cholesterol transporter activity ovary(1) 1 Colorectal(12;0.000442) all_lung(54;0.0151)|Lung NSC(58;0.0295) READ - Rectum adenocarcinoma(644;0.188) AGCCCTCTTGGTTGCTAAGGA 0.582 10 21 --- --- --- --- PASS ADAM2 2515 broad.mit.edu 37 8 39613342 39613342 + Missense_Mutation SNP T A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr8:39613342T>A uc003xnj.2 - 16 1777 c.1702A>T c.(1702-1704)AGT>TGT p.S568C ADAM2_uc003xnk.2_Missense_Mutation_p.S549C|ADAM2_uc011lck.1_Intron|ADAM2_uc003xnl.2_Splice_Site_p.D412_splice NM_001464 NP_001455 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 proprotein 568 Extracellular (Potential).|Cys-rich. cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding ovary(1)|lung(1) 2 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) AGATGTCCACTTATGTTGGCA 0.348 41 47 --- --- --- --- PASS SFRP1 6422 broad.mit.edu 37 8 41166484 41166484 + Silent SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr8:41166484C>A uc003xnt.2 - 1 497 c.195G>T c.(193-195)CTG>CTT p.L65L NM_003012 NP_003003 Q8N474 SFRP1_HUMAN secreted frizzled-related protein 1 precursor 65 FZ. brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1) 1 Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211) all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559) BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174) GGCACAGCCGCAGGTCCGCGG 0.642 11 11 --- --- --- --- PASS ANK1 286 broad.mit.edu 37 8 41519387 41519387 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr8:41519387C>A uc003xok.2 - 41 5635 c.5551G>T c.(5551-5553)GTA>TTA p.V1851L NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Intron|ANK1_uc003xoi.2_Intron|ANK1_uc003xoj.2_Intron|ANK1_uc003xol.2_Missense_Mutation_p.V1689L|ANK1_uc003xom.2_Intron|ANK1_uc011lcl.1_Intron|ANK1_uc003xod.2_Intron|ANK1_uc003xoc.2_Missense_Mutation_p.V126L|ANK1_uc003xof.2_Intron|MIR486_hsa-mir-486|MI0002470_5'Flank NM_020476 NP_065209 P16157 ANK1_HUMAN ankyrin 1 isoform 1 1851 55 kDa regulatory domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(3)|lung(2)|breast(1) 9 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) GGCCCCTCTACAGTCACCTCC 0.582 16 42 --- --- --- --- PASS PXDNL 137902 broad.mit.edu 37 8 52321195 52321195 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr8:52321195C>A uc003xqu.3 - 17 3090 c.2989G>T c.(2989-2991)GTT>TTT p.V997F PXDNL_uc003xqt.3_RNA NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 997 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) TCCTGGTAAACCGTGTTTCCC 0.632 6 6 --- --- --- --- PASS CYP7B1 9420 broad.mit.edu 37 8 65527693 65527693 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr8:65527693G>T uc003xvj.2 - 4 1151 c.947C>A c.(946-948)GCA>GAA p.A316E NM_004820 NP_004811 O75881 CP7B1_HUMAN cytochrome P450, family 7, subfamily B, 316 bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity ovary(3) 3 all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215) ACGCACTGCTGCCATAGCTTC 0.488 18 34 --- --- --- --- PASS TRPA1 8989 broad.mit.edu 37 8 72984099 72984099 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr8:72984099C>A uc003xza.2 - 2 290 c.115G>T c.(115-117)GTT>TTT p.V39F NM_007332 NP_015628 O75762 TRPA1_HUMAN ankyrin-like protein 1 39 Cytoplasmic (Potential). integral to plasma membrane ovary(4)|lung(1)|kidney(1) 6 Epithelial(68;0.223) Menthol(DB00825) CCTTCAAAAACCACCTAGAGG 0.318 10 39 --- --- --- --- PASS STAU2 27067 broad.mit.edu 37 8 74464340 74464340 + Silent SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr8:74464340G>T uc003xzm.2 - 13 1673 c.1437C>A c.(1435-1437)GCC>GCA p.A479A STAU2_uc011lfg.1_Silent_p.A307A|STAU2_uc003xzn.2_Silent_p.A447A|STAU2_uc011lfh.1_Silent_p.A375A|STAU2_uc003xzo.2_Silent_p.A479A|STAU2_uc003xzp.2_Silent_p.A447A|STAU2_uc011lfi.1_Silent_p.A441A|STAU2_uc003xzq.2_Silent_p.A259A|STAU2_uc010lzk.2_Silent_p.A447A|STAU2_uc010lzl.1_Silent_p.A307A NM_014393 NP_055208 Q9NUL3 STAU2_HUMAN staufen homolog 2 isoform e 479 Required for dendritic transport (By similarity). transport endoplasmic reticulum|microtubule|nucleolus double-stranded RNA binding 0 Breast(64;0.0138) Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972) TTAAACCTATGGCTTCAGCTG 0.408 31 85 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113988090 113988090 + Nonsense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr8:113988090C>A uc003ynu.2 - 7 1477 c.1318G>T c.(1318-1320)GAG>TAG p.E440* CSMD3_uc003ynt.2_Nonsense_Mutation_p.E400*|CSMD3_uc011lhx.1_Intron NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 440 Extracellular (Potential). integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 ACTGCAAGCTCTTTAGTTCTT 0.413 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 38 103 --- --- --- --- PASS ENPP2 5168 broad.mit.edu 37 8 120628554 120628554 + Missense_Mutation SNP T C C TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr8:120628554T>C uc003yot.1 - 8 814 c.728A>G c.(727-729)CAT>CGT p.H243R ENPP2_uc003yos.1_Missense_Mutation_p.H243R|ENPP2_uc010mdd.1_Missense_Mutation_p.H243R NM_001040092 NP_001035181 Q13822 ENPP2_HUMAN autotaxin isoform 2 preproprotein 243 cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration extracellular space|integral to plasma membrane alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1) 7 Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) CCCTCGCAGATGAAAAGTGGC 0.363 14 39 --- --- --- --- PASS COL22A1 169044 broad.mit.edu 37 8 139674273 139674273 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr8:139674273G>T uc003yvd.2 - 43 3687 c.3240C>A c.(3238-3240)GAC>GAA p.D1080E COL22A1_uc011ljo.1_Missense_Mutation_p.D360E NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1080 Pro-rich.|Gly-rich.|Collagen-like 9. cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CTGTACTTACGTCCCGGCCGG 0.552 HNSCC(7;0.00092) 21 56 --- --- --- --- PASS PTK2 5747 broad.mit.edu 37 8 141675018 141675018 + Missense_Mutation SNP C T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr8:141675018C>T uc003yvu.2 - 31 3174 c.2944G>A c.(2944-2946)GAG>AAG p.E982K PTK2_uc011ljp.1_Missense_Mutation_p.E290K|PTK2_uc003yvo.2_Missense_Mutation_p.E610K|PTK2_uc011ljq.1_Missense_Mutation_p.E680K|PTK2_uc003yvp.2_Missense_Mutation_p.E650K|PTK2_uc003yvq.2_Missense_Mutation_p.E487K|PTK2_uc003yvr.2_Missense_Mutation_p.E925K|PTK2_uc003yvs.2_Missense_Mutation_p.E936K|PTK2_uc003yvt.2_Missense_Mutation_p.E1004K|PTK2_uc003yvv.2_Missense_Mutation_p.E885K|PTK2_uc011ljr.1_Missense_Mutation_p.E995K NM_153831 NP_722560 Q05397 FAK1_HUMAN PTK2 protein tyrosine kinase 2 isoform a 982 Interaction with TGFB1I1.|Interaction with RGNEF (By similarity). axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly cytoskeleton|cytosol|focal adhesion ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity ovary(2)|lung(2)|central_nervous_system(1)|skin(1) 6 all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;2.72e-05)|Breast(495;0.159) BRCA - Breast invasive adenocarcinoma(115;0.137) TGCCCTACCTCTCGGTGGGTG 0.577 9 11 --- --- --- --- PASS RECQL4 9401 broad.mit.edu 37 8 145739739 145739739 + Missense_Mutation SNP G A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr8:145739739G>A uc003zdj.2 - 11 1744 c.1712C>T c.(1711-1713)GCA>GTA p.A571V NM_004260 NP_004251 O94761 RECQ4_HUMAN RecQ protein-like 4 571 Helicase ATP-binding. DNA duplex unwinding|DNA recombination|DNA repair cytoplasm|nucleus ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding breast(2)|lung(1)|skin(1) 4 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) TACCTGGGCTGCCCGAATCTG 0.657 N|F|S osteosarcoma|skin basal and sqamous cell Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents RAPADILINO_syndrome|Rothmund-Thomson_syndrome|Baller-Gerold_syndrome 4 12 --- --- --- --- PASS RFX3 5991 broad.mit.edu 37 9 3263017 3263017 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr9:3263017G>T uc003zhr.2 - 14 1835 c.1523C>A c.(1522-1524)GCA>GAA p.A508E RFX3_uc010mhd.2_Missense_Mutation_p.A508E|RFX3_uc003zhs.1_Missense_Mutation_p.A508E NM_134428 NP_602304 P48380 RFX3_HUMAN regulatory factor X3 isoform b 508 cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion nuclear chromatin protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding ovary(2)|central_nervous_system(1)|pancreas(1) 4 GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337) TGCACGAGCTGCCTGGGCCAG 0.493 17 34 --- --- --- --- PASS CDC37L1 55664 broad.mit.edu 37 9 4685026 4685026 + Silent SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr9:4685026C>A uc003zio.2 + 2 492 c.282C>A c.(280-282)GCC>GCA p.A94A NM_017913 NP_060383 Q7L3B6 CD37L_HUMAN cell division cycle 37 homolog (S. 94 Potential.|Self-association. cytoplasm 0 all_hematologic(13;0.137) Breast(48;0.238) GBM - Glioblastoma multiforme(50;0.0318) AGGAGCATGCCAAAGCACAAA 0.468 25 31 --- --- --- --- PASS ALDH1A1 216 broad.mit.edu 37 9 75526976 75526976 + Silent SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr9:75526976G>T uc004ajd.2 - 10 1151 c.1098C>A c.(1096-1098)GCC>GCA p.A366A ALDH1A1_uc011lsh.1_Silent_p.A287A|ALDH1A1_uc011lsg.1_Silent_p.A192A NM_000689 NP_000680 P00352 AL1A1_HUMAN aldehyde dehydrogenase 1A1 366 cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process cytosol aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity ovary(3)|lung(1) 4 NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) ATTCCAGTTTGGCCCCTTCTT 0.413 5 76 --- --- --- --- PASS GNA14 9630 broad.mit.edu 37 9 80049351 80049351 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr9:80049351G>T uc004aku.2 - 3 920 c.397C>A c.(397-399)CAA>AAA p.Q133K NM_004297 NP_004288 O95837 GNA14_HUMAN G alpha 14 133 activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity ovary(2) 2 CCTGGATCTTGCCAGAGCTGC 0.562 OREG0019263 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 24 --- --- --- --- PASS PTPDC1 138639 broad.mit.edu 37 9 96859732 96859732 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr9:96859732C>A uc004auf.1 + 7 1062 c.722C>A c.(721-723)ACT>AAT p.T241N PTPDC1_uc004aug.1_Missense_Mutation_p.T241N|PTPDC1_uc004auh.1_Missense_Mutation_p.T293N|PTPDC1_uc010mrj.1_Missense_Mutation_p.T295N|PTPDC1_uc010mri.1_Missense_Mutation_p.T293N NM_177995 NP_818931 A2A3K4 PTPC1_HUMAN protein tyrosine phosphatase domain containing 1 241 protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(1) 1 AGGGAATTTACTCAGTTTCTA 0.453 9 86 --- --- --- --- PASS RAB14 51552 broad.mit.edu 37 9 123945598 123945598 + Nonsense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr9:123945598C>A uc004blc.2 - 6 886 c.430G>T c.(430-432)GAA>TAA p.E144* NM_016322 NP_057406 P61106 RAB14_HUMAN GTPase Rab14 144 embryo development|fibroblast growth factor receptor signaling pathway|Golgi to endosome transport|neurotransmitter secretion|protein transport|small GTPase mediated signal transduction cytosol|early endosome membrane|Golgi membrane|Golgi stack|late endosome|lysosome|membrane fraction|nuclear outer membrane-endoplasmic reticulum membrane network|perinuclear region of cytoplasm|rough endoplasmic reticulum|trans-Golgi network transport vesicle GDP binding|GTP binding|GTPase activity 0 CCATTTTCTTCAGCAAACTGT 0.333 27 61 --- --- --- --- PASS OR1J4 26219 broad.mit.edu 37 9 125281491 125281491 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr9:125281491G>T uc011lyw.1 + 1 72 c.72G>T c.(70-72)CAG>CAT p.Q24H NM_001004452 NP_001004452 Q8NGS1 OR1J4_HUMAN olfactory receptor, family 1, subfamily J, 24 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CAGAGCAGCAGGCTGTGTTCT 0.557 28 66 --- --- --- --- PASS PTGES2 80142 broad.mit.edu 37 9 130885221 130885221 + Silent SNP G C C TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr9:130885221G>C uc004bti.2 - 5 1357 c.879C>G c.(877-879)CTC>CTG p.L293L PTGES2_uc004btj.2_RNA|PTGES2_uc004btk.2_Silent_p.L102L|PTGES2_uc004btl.2_Silent_p.L102L|PTGES2_uc004btm.2_RNA NM_025072 NP_079348 Q9H7Z7 PGES2_HUMAN prostaglandin E synthase 2 293 GST C-terminal.|Cytoplasmic (Potential). cell redox homeostasis|prostaglandin biosynthetic process Golgi membrane|integral to membrane|mitochondrion|perinuclear region of cytoplasm electron carrier activity|prostaglandin-E synthase activity|protein binding|protein disulfide oxidoreductase activity 0 GCCTGCTCTTGAGTCGCTTGC 0.627 5 28 --- --- --- --- PASS NTNG2 84628 broad.mit.edu 37 9 135073791 135073791 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr9:135073791C>A uc004cbh.2 + 3 1428 c.652C>A c.(652-654)CGC>AGC p.R218S NM_032536 NP_115925 Q96CW9 NTNG2_HUMAN netrin G2 precursor 218 Laminin N-terminal. axonogenesis anchored to plasma membrane 0 OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173) GGTGCGGGACCGCTTCGCCAT 0.647 22 32 --- --- --- --- PASS FCN2 2220 broad.mit.edu 37 9 137772699 137772699 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr9:137772699G>T uc004cfg.1 + 1 42 c.32G>T c.(31-33)GGC>GTC p.G11V FCN2_uc004cfh.1_Missense_Mutation_p.G11V NM_004108 NP_004099 Q15485 FCN2_HUMAN ficolin 2 isoform a precursor 11 complement activation, lectin pathway|opsonization|signal transduction collagen|extracellular space antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding large_intestine(1) 1 Myeloproliferative disorder(178;0.0333) OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07) GGGGTCCTGGGCGCTGCCACC 0.617 4 15 --- --- --- --- PASS UPF2 26019 broad.mit.edu 37 10 12070784 12070784 + Missense_Mutation SNP T C C TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr10:12070784T>C uc001ila.2 - 2 1579 c.1105A>G c.(1105-1107)AGG>GGG p.R369G UPF2_uc001ilb.2_Missense_Mutation_p.R369G|UPF2_uc001ilc.2_Missense_Mutation_p.R369G|UPF2_uc009xiz.1_Missense_Mutation_p.R369G NM_080599 NP_542166 Q9HAU5 RENT2_HUMAN UPF2 regulator of nonsense transcripts homolog 369 MIF4G 1. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay exon-exon junction complex|perinuclear region of cytoplasm identical protein binding|RNA binding central_nervous_system(2)|ovary(1) 3 Renal(717;0.228) CTGTGGTCCCTTTTCAGGTGT 0.373 3 77 --- --- --- --- PASS ITGA8 8516 broad.mit.edu 37 10 15647751 15647751 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr10:15647751C>A uc001ioc.1 - 19 1942 c.1942G>T c.(1942-1944)GTT>TTT p.V648F ITGA8_uc010qcb.1_Missense_Mutation_p.V633F NM_003638 NP_003629 P53708 ITA8_HUMAN integrin, alpha 8 precursor 648 Extracellular (Potential). cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity ovary(3)|lung(3) 6 AAGTCAGGAACACACAGATTG 0.388 12 39 --- --- --- --- PASS KIAA1217 56243 broad.mit.edu 37 10 24790396 24790396 + Silent SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr10:24790396C>A uc001iru.3 + 9 2326 c.1923C>A c.(1921-1923)GCC>GCA p.A641A KIAA1217_uc001irs.2_Silent_p.A561A|KIAA1217_uc001irt.3_Silent_p.A606A|KIAA1217_uc010qcy.1_Silent_p.A606A|KIAA1217_uc010qcz.1_Silent_p.A606A|KIAA1217_uc001irv.1_Silent_p.A456A|KIAA1217_uc010qda.1_RNA|KIAA1217_uc001irw.2_Silent_p.A324A|KIAA1217_uc001irz.2_Silent_p.A324A|KIAA1217_uc001irx.2_Silent_p.A324A|KIAA1217_uc001iry.2_Silent_p.A324A NM_019590 NP_062536 Q5T5P2 SKT_HUMAN sickle tail isoform 1 641 embryonic skeletal system development cytoplasm ovary(5)|skin(2) 7 GCACCTCAGCCATCCACATGA 0.622 8 34 --- --- --- --- PASS GAD2 2572 broad.mit.edu 37 10 26558081 26558081 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr10:26558081G>T uc001isp.2 + 9 1457 c.954G>T c.(952-954)AGG>AGT p.R318S GAD2_uc001isq.2_Missense_Mutation_p.R318S NM_001134366 NP_001127838 Q05329 DCE2_HUMAN glutamate decarboxylase 2 318 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding central_nervous_system(1)|skin(1) 2 L-Glutamic Acid(DB00142) TTGAAAGAAGGATTCTTGAAG 0.368 19 36 --- --- --- --- PASS ZNF248 57209 broad.mit.edu 37 10 38121037 38121037 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr10:38121037C>A uc001izd.1 - 6 1745 c.1246G>T c.(1246-1248)GCC>TCC p.A416S ZNF248_uc009xmc.2_Intron|ZNF248_uc001izb.2_Intron|ZNF248_uc001izc.2_Intron|ZNF248_uc010qeu.1_Missense_Mutation_p.A416S NM_021045 NP_066383 Q8NDW4 ZN248_HUMAN zinc finger protein 248 416 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TGGCAAAAGGCTTTCCCACAT 0.443 38 87 --- --- --- --- PASS FRMPD2 143162 broad.mit.edu 37 10 49395304 49395304 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr10:49395304C>A uc001jgi.2 - 17 2304 c.2197G>T c.(2197-2199)GCC>TCC p.A733S FRMPD2_uc001jgh.2_Missense_Mutation_p.A701S|FRMPD2_uc001jgj.2_Missense_Mutation_p.A711S NM_001018071 NP_001018081 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 isoform 3 733 tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding large_intestine(1) 1 Kidney(211;0.201) ATCACACAGGCACTCTTCAGC 0.572 5 9 --- --- --- --- PASS C10orf71 118461 broad.mit.edu 37 10 50531636 50531636 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr10:50531636G>T uc010qgp.1 + 3 1385 c.1046G>T c.(1045-1047)TGG>TTG p.W349L NM_199459 NP_955629 Q711Q0 CJ071_HUMAN hypothetical protein LOC118461 isoform 2 349 0 TCTATACCCTGGGGGTGCAGG 0.592 9 15 --- --- --- --- PASS COL13A1 1305 broad.mit.edu 37 10 71697401 71697401 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr10:71697401G>T uc001jpr.1 + 32 2311 c.1775G>T c.(1774-1776)GGA>GTA p.G592V COL13A1_uc001jqj.1_Missense_Mutation_p.G577V|COL13A1_uc001jps.1_Missense_Mutation_p.G563V|COL13A1_uc001jpt.1_Missense_Mutation_p.G551V|COL13A1_uc001jpu.1_Missense_Mutation_p.G573V|COL13A1_uc001jpv.1_Missense_Mutation_p.G578V|COL13A1_uc001jpx.1_Missense_Mutation_p.G555V|COL13A1_uc001jpw.1_Missense_Mutation_p.G539V|COL13A1_uc001jpy.1_Missense_Mutation_p.G530V|COL13A1_uc001jpz.1_Missense_Mutation_p.G535V|COL13A1_uc001jqa.1_Missense_Mutation_p.G532V|COL13A1_uc001jqc.1_Missense_Mutation_p.G577V|COL13A1_uc001jqb.1_Missense_Mutation_p.G526V|COL13A1_uc001jql.2_Missense_Mutation_p.G592V|COL13A1_uc001jqd.1_Missense_Mutation_p.G580V|COL13A1_uc001jqe.1_Missense_Mutation_p.G575V|COL13A1_uc001jqf.1_Missense_Mutation_p.G573V|COL13A1_uc001jqg.1_Missense_Mutation_p.G570V|COL13A1_uc001jqh.1_Missense_Mutation_p.G592V|COL13A1_uc001jqi.1_Missense_Mutation_p.G578V|COL13A1_uc010qjf.1_Missense_Mutation_p.G367V NM_005203 NP_005194 Q5TAT6 CODA1_HUMAN alpha 1 type XIII collagen isoform 1 592 Extracellular (Potential).|Triple-helical region 3 (COL3). cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure collagen type XIII|integral to membrane extracellular matrix structural constituent|heparin binding|protein binding ovary(1) 1 Atorvastatin(DB01076)|Simvastatin(DB00641) GGGGAAGCAGGACTAGATGGA 0.562 6 16 --- --- --- --- PASS ADAMTS14 140766 broad.mit.edu 37 10 72434586 72434586 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr10:72434586G>T uc001jrh.2 + 2 357 c.357G>T c.(355-357)TTG>TTT p.L119F ADAMTS14_uc001jrg.2_Missense_Mutation_p.L119F NM_080722 NP_542453 Q8WXS8 ATS14_HUMAN ADAM metallopeptidase with thrombospondin type 1 119 collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(5)|upper_aerodigestive_tract(1) 6 AACTGCACTTGCGCCTGCGGC 0.627 10 22 --- --- --- --- PASS CDH23 64072 broad.mit.edu 37 10 73560461 73560461 + Silent SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr10:73560461C>A uc001jrx.3 + 51 7808 c.7431C>A c.(7429-7431)GCC>GCA p.A2477A CDH23_uc001jsg.3_Silent_p.A237A|CDH23_uc001jsh.3_Silent_p.A237A|CDH23_uc001jsi.3_Silent_p.A237A NM_022124 NP_071407 Q9H251 CAD23_HUMAN cadherin-like 23 isoform 1 precursor 2477 Cadherin 23.|Extracellular (Potential). calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding central_nervous_system(5)|large_intestine(4)|ovary(2) 11 CTGCCTTGGCCAAAGACAACC 0.562 3 10 --- --- --- --- PASS ASCC1 51008 broad.mit.edu 37 10 73970533 73970533 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr10:73970533G>T uc001jst.1 - 3 277 c.169C>A c.(169-171)CAA>AAA p.Q57K ASCC1_uc001jss.1_Missense_Mutation_p.Q57K|ASCC1_uc001jsu.1_Missense_Mutation_p.Q57K|ASCC1_uc010qju.1_Missense_Mutation_p.Q78K Q8N9N2 ASCC1_HUMAN RecName: Full=Activating signal cointegrator 1 complex subunit 1; AltName: Full=ASC-1 complex subunit p50; AltName: Full=Trip4 complex subunit p50; 57 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|transcription factor complex RNA binding 0 CGGAATCCTTGTGGGGTCTGC 0.522 12 21 --- --- --- --- PASS VCL 7414 broad.mit.edu 37 10 75855548 75855548 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr10:75855548G>T uc001jwd.2 + 12 1772 c.1678G>T c.(1678-1680)GCC>TCC p.A560S VCL_uc009xrr.2_Missense_Mutation_p.A309S|VCL_uc010qky.1_Missense_Mutation_p.A467S|VCL_uc001jwe.2_Missense_Mutation_p.A560S|VCL_uc010qkz.1_Intron NM_014000 NP_054706 P18206 VINC_HUMAN vinculin isoform meta-VCL 560 N-terminal globular head.|3.|3 X 112 AA tandem repeats. adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface costamere|cytosol|extracellular region|focal adhesion actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity VCL/ALK(4) kidney(4)|ovary(1)|central_nervous_system(1) 6 Prostate(51;0.0112) TGACCTGGCTGCCAGAGGGGA 0.527 24 56 --- --- --- --- PASS SH2D4B 387694 broad.mit.edu 37 10 82363454 82363454 + Missense_Mutation SNP A T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr10:82363454A>T uc001kck.1 + 5 1193 c.763A>T c.(763-765)ATG>TTG p.M255L SH2D4B_uc001kcl.1_Missense_Mutation_p.M206L|SH2D4B_uc001kcm.1_Missense_Mutation_p.M1L NM_207372 NP_997255 Q5SQS7 SH24B_HUMAN SH2 domain containing 4B isoform 1 254 0 Colorectal(32;0.229) CCTCAGCTCCATGTTCCGGGA 0.682 3 4 --- --- --- --- PASS FAS 355 broad.mit.edu 37 10 90770326 90770326 + Silent SNP A T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr10:90770326A>T uc001kfr.2 + 5 820 c.474A>T c.(472-474)ACA>ACT p.T158T FAS_uc010qna.1_RNA|FAS_uc001kfs.2_Silent_p.T158T|FAS_uc001kft.2_Silent_p.T158T|FAS_uc010qnb.1_RNA|FAS_uc010qnc.1_RNA|FAS_uc001kfw.2_Missense_Mutation_p.H122L|FAS_uc010qnd.1_RNA|FAS_uc010qne.1_RNA|FAS_uc009xtp.2_RNA NM_000043 NP_000034 P25445 TNR6_HUMAN tumor necrosis factor receptor superfamily, 158 TNFR-Cys 3.|Extracellular (Potential). activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death cytosol|extracellular region|integral to membrane|soluble fraction identical protein binding|kinase binding upper_aerodigestive_tract(1)|breast(1) 2 Colorectal(252;0.0161) Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193) AGGAATGCACACTCACCAGCA 0.363 Autoimmune_Lymphoproliferative_syndrome_type_I 19 30 --- --- --- --- PASS PSD 5662 broad.mit.edu 37 10 104170857 104170857 + Silent SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr10:104170857C>A uc001kvg.1 - 9 2486 c.1959G>T c.(1957-1959)CTG>CTT p.L653L PSD_uc001kvf.1_5'Flank|PSD_uc001kvh.1_Silent_p.L274L|PSD_uc009xxd.1_Silent_p.L653L NM_002779 NP_002770 A5PKW4 PSD1_HUMAN pleckstrin and Sec7 domain containing 653 SEC7. regulation of ARF protein signal transduction cytoplasm|plasma membrane|ruffle ARF guanyl-nucleotide exchange factor activity|signal transducer activity breast(2)|urinary_tract(1) 3 Epithelial(162;1.27e-08)|all cancers(201;2.85e-07) GCGCACAGGTCAGCGTGTGGG 0.632 8 30 --- --- --- --- PASS SORCS3 22986 broad.mit.edu 37 10 106927081 106927081 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr10:106927081C>A uc001kyi.1 + 13 2102 c.1875C>A c.(1873-1875)CAC>CAA p.H625Q NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN VPS10 domain receptor protein SORCS 3 precursor 625 Lumenal (Potential). integral to membrane neuropeptide receptor activity ovary(6)|skin(3)|central_nervous_system(1) 10 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) CCATGAAACACACACCTCTGC 0.403 8 23 --- --- --- --- PASS BAG3 9531 broad.mit.edu 37 10 121436371 121436371 + Silent SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr10:121436371G>T uc001lem.2 + 4 1611 c.1305G>T c.(1303-1305)CTG>CTT p.L435L BAG3_uc001lel.2_Silent_p.L434L NM_004281 NP_004272 O95817 BAG3_HUMAN BCL2-associated athanogene 3 435 BAG. anti-apoptosis|apoptosis|protein folding cytosol ovary(2) 2 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148) TACAGGGGCTGGAGCAGGCTG 0.517 4 24 --- --- --- --- PASS DMBT1 1755 broad.mit.edu 37 10 124358338 124358338 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr10:124358338G>T uc001lgk.1 + 26 3111 c.3005G>T c.(3004-3006)TGT>TTT p.C1002F DMBT1_uc001lgl.1_Missense_Mutation_p.C992F|DMBT1_uc001lgm.1_Missense_Mutation_p.C503F|DMBT1_uc009xzz.1_Missense_Mutation_p.C1002F|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_5'UTR NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 isoform b 1002 SRCR 8. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding central_nervous_system(7) 7 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) GGTGACAGGTGTCAGGGCCGA 0.557 15 294 --- --- --- --- PASS KNDC1 85442 broad.mit.edu 37 10 135020657 135020657 + Missense_Mutation SNP G C C TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr10:135020657G>C uc001llz.1 + 20 3597 c.3596G>C c.(3595-3597)CGC>CCC p.R1199P KNDC1_uc001lma.1_3'UTR NM_152643 NP_689856 Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) 1199 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) TACGCGGAACGCTGGGGCCTG 0.682 5 9 --- --- --- --- PASS MTG1 92170 broad.mit.edu 37 10 135209741 135209741 + Missense_Mutation SNP G C C TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr10:135209741G>C uc001lnd.2 + 3 356 c.252G>C c.(250-252)AAG>AAC p.K84N MTG1_uc010qve.1_5'UTR NM_138384 NP_612393 Q9BT17 MTG1_HUMAN GTP_binding protein precursor 84 GTP (By similarity). mitochondrion GTP binding|protein binding skin(1) 1 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) OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|all cancers(32;1.69e-06)|Epithelial(32;1.94e-06) TCCTCAACAAGATGGACTTGG 0.502 4 129 --- --- --- --- PASS IFITM2 10581 broad.mit.edu 37 11 308295 308295 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr11:308295C>A uc001lox.3 + 1 189 c.103C>A c.(103-105)CAC>AAC p.H35N NM_006435 NP_006426 Q01629 IFM2_HUMAN interferon induced transmembrane protein 2 35 Extracellular (Potential). response to virus|type I interferon-mediated signaling pathway integral to membrane|plasma membrane protein binding 0 all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;5.73e-28)|Epithelial(43;3.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.14e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0328)|LUSC - Lung squamous cell carcinoma(625;0.122) GGGGGTGCCCCACAACCCTGC 0.587 30 77 --- --- --- --- PASS MUC6 4588 broad.mit.edu 37 11 1017439 1017439 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr11:1017439C>A uc001lsw.2 - 31 5413 c.5362G>T c.(5362-5364)GCC>TCC p.A1788S NM_005961 NP_005952 Q6W4X9 MUC6_HUMAN mucin 6, gastric 1788 Thr-rich.|2.|Approximate repeats. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent ovary(1) 1 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) CTGCTGGTGGCCGACGTGGTG 0.592 39 346 --- --- --- --- PASS KRTAP5-3 387266 broad.mit.edu 37 11 1629521 1629521 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr11:1629521C>A uc001ltw.1 - 1 173 c.95G>T c.(94-96)GGC>GTC p.G32V NM_001012708 NP_001012726 Q6L8H2 KRA53_HUMAN keratin associated protein 5-3 32 keratin filament ovary(2) 2 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822) GCAGCCGGAGCCACAGCCCCC 0.672 5 104 --- --- --- --- PASS IGF2 3481 broad.mit.edu 37 11 2154297 2154297 + Missense_Mutation SNP G C C TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr11:2154297G>C uc009yde.2 - 4 566 c.463C>G c.(463-465)CAC>GAC p.H155D IGF2_uc001lvf.2_RNA|IGF2_uc001lvg.2_Missense_Mutation_p.H155D|IGF2_uc009ydf.2_Missense_Mutation_p.H211D|IGF2_uc001lvh.2_Missense_Mutation_p.H155D|INS-IGF2_uc001lvi.2_RNA NM_001007139 NP_001007140 P01344 IGF2_HUMAN insulin-like growth factor 2 isoform 1 155 glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development extracellular space growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity central_nervous_system(1) 1 all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24) Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029) BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153) AGGGGACGGTGACGTTTGGCC 0.692 24 43 --- --- --- --- PASS TSSC4 10078 broad.mit.edu 37 11 2424345 2424345 + Missense_Mutation SNP G A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr11:2424345G>A uc001lwj.2 + 4 843 c.482G>A c.(481-483)CGC>CAC p.R161H TSSC4_uc001lwi.2_Missense_Mutation_p.R97H|TSSC4_uc001lwk.2_Missense_Mutation_p.R161H|TSSC4_uc001lwl.2_Missense_Mutation_p.R161H NM_005706 NP_005697 Q9Y5U2 TSSC4_HUMAN tumor suppressing subtransferable candidate 4 161 0 all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209) BRCA - Breast invasive adenocarcinoma(625;0.00145)|LUSC - Lung squamous cell carcinoma(625;0.19) CACCCCGAGCGCTGGACCAAG 0.692 10 14 --- --- --- --- PASS STIM1 6786 broad.mit.edu 37 11 4104115 4104115 + Nonsense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr11:4104115G>T uc001lyv.2 + 9 1709 c.1141G>T c.(1141-1143)GAG>TAG p.E381* STIM1_uc009yef.2_Nonsense_Mutation_p.E381*|STIM1_uc009yeg.2_Nonsense_Mutation_p.E208* NM_003156 NP_003147 Q13586 STIM1_HUMAN stromal interaction molecule 1 precursor 381 Cytoplasmic (Potential).|Potential. activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule calcium ion binding|microtubule plus-end binding pancreas(1) 1 Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233) BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141) TTTGCAGGCTGAGAAGATAAA 0.478 13 28 --- --- --- --- PASS OR52K1 390036 broad.mit.edu 37 11 4510283 4510283 + Silent SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr11:4510283C>A uc001lza.1 + 1 153 c.153C>A c.(151-153)ATC>ATA p.I51I NM_001005171 NP_001005171 Q8NGK4 O52K1_HUMAN olfactory receptor, family 52, subfamily K, 51 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192) TCTTCATTATCCAGGCTGATG 0.498 34 63 --- --- --- --- PASS OR52K1 390036 broad.mit.edu 37 11 4510851 4510851 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr11:4510851G>T uc001lza.1 + 1 721 c.721G>T c.(721-723)GGG>TGG p.G241W NM_001005171 NP_001005171 Q8NGK4 O52K1_HUMAN olfactory receptor, family 52, subfamily K, 241 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192) CAAGGCATTTGGGACATGTGT 0.527 54 117 --- --- --- --- PASS OR51B5 282763 broad.mit.edu 37 11 5364168 5364168 + Missense_Mutation SNP T A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr11:5364168T>A uc001map.1 - 1 587 c.587A>T c.(586-588)TAC>TTC p.Y196F HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron NM_001005567 NP_001005567 Q9H339 O51B5_HUMAN olfactory receptor, family 51, subfamily B, 196 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CACAGCTGGGTACAGTCGGTT 0.428 28 56 --- --- --- --- PASS OR56A3 390083 broad.mit.edu 37 11 5969290 5969290 + Silent SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr11:5969290G>T uc010qzt.1 + 1 714 c.714G>T c.(712-714)GTG>GTT p.V238V NM_001003443 NP_001003443 Q8NH54 O56A3_HUMAN olfactory receptor, family 56, subfamily A, 238 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGGGTGCCGTGGCAAAGGCCC 0.522 38 101 --- --- --- --- PASS OR52B2 255725 broad.mit.edu 37 11 6191304 6191304 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr11:6191304C>A uc010qzy.1 - 1 253 c.253G>T c.(253-255)GCC>TCC p.A85S NM_001004052 NP_001004052 Q96RD2 O52B2_HUMAN olfactory receptor, family 52, subfamily B, 85 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) CAAAAGATGGCTAGGGCCTTG 0.488 19 56 --- --- --- --- PASS OR10A5 144124 broad.mit.edu 37 11 6867383 6867383 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr11:6867383C>A uc001met.1 + 1 470 c.470C>A c.(469-471)GCT>GAT p.A157D NM_178168 NP_835462 Q9H207 O10A5_HUMAN olfactory receptor, family 10, subfamily A, 157 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) TTTCCTGTAGCTACTGTGCAG 0.537 30 102 --- --- --- --- PASS ST5 6764 broad.mit.edu 37 11 8751621 8751621 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr11:8751621G>T uc001mgt.2 - 3 1402 c.1216C>A c.(1216-1218)CCC>ACC p.P406T ST5_uc009yfr.2_Intron|ST5_uc001mgu.2_Intron|ST5_uc001mgv.2_Missense_Mutation_p.P406T|ST5_uc010rbq.1_Intron|ST5_uc001mgw.1_Missense_Mutation_p.P406T NM_213618 NP_998783 P78524 ST5_HUMAN suppression of tumorigenicity 5 isoform 1 406 Pro-rich.|Interaction with ABL1. positive regulation of ERK1 and ERK2 cascade protein binding upper_aerodigestive_tract(1) 1 Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352) CCATTACTGGGCTTACTCTTG 0.607 51 118 --- --- --- --- PASS SLC6A5 9152 broad.mit.edu 37 11 20668449 20668449 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr11:20668449G>T uc001mqd.2 + 14 2312 c.2039G>T c.(2038-2040)TGC>TTC p.C680F SLC6A5_uc009yic.2_Missense_Mutation_p.C445F NM_004211 NP_004202 Q9Y345 SC6A5_HUMAN solute carrier family 6 (neurotransmitter 680 Helical; Name=11; (Potential). synaptic transmission integral to membrane|plasma membrane glycine:sodium symporter activity|neurotransmitter:sodium symporter activity ovary(2)|breast(1)|skin(1) 4 Glycine(DB00145) TGGAAAGTCTGCTGGGCATTT 0.403 27 49 --- --- --- --- PASS SLC17A6 57084 broad.mit.edu 37 11 22399257 22399257 + Missense_Mutation SNP A T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr11:22399257A>T uc001mqk.2 + 12 2133 c.1720A>T c.(1720-1722)AGC>TGC p.S574C NM_020346 NP_065079 Q9P2U8 VGLU2_HUMAN solute carrier family 17 (sodium-dependent 574 Cytoplasmic (Potential). sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity ovary(3)|breast(1) 4 AGACTCACATAGCTATAAGGA 0.353 16 16 --- --- --- --- PASS NAT10 55226 broad.mit.edu 37 11 34145879 34145879 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr11:34145879C>A uc001mvk.2 + 11 1283 c.1039C>A c.(1039-1041)CTA>ATA p.L347I NAT10_uc010ren.1_Missense_Mutation_p.L275I NM_024662 NP_078938 Q9H0A0 NAT10_HUMAN N-acetyltransferase 10 isoform a 347 nucleolus ATP binding|N-acetyltransferase activity|protein binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231) TATCCAGTCTCTAAATCCTGA 0.393 11 38 --- --- --- --- PASS KBTBD4 55709 broad.mit.edu 37 11 47594781 47594781 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr11:47594781C>A uc001nfx.2 - 4 1429 c.1258G>T c.(1258-1260)GCA>TCA p.A420S PTPMT1_uc001nfs.3_3'UTR|PTPMT1_uc001nfv.3_3'UTR|PTPMT1_uc009ylt.2_3'UTR|PTPMT1_uc001nfu.3_3'UTR|NDUFS3_uc001nft.3_Intron|KBTBD4_uc001nfw.1_Missense_Mutation_p.A445S|KBTBD4_uc001nfz.2_Missense_Mutation_p.A436S|KBTBD4_uc001nfy.2_Missense_Mutation_p.A420S NM_016506 NP_057590 Q9NVX7 KBTB4_HUMAN kelch repeat and BTB (POZ) domain containing 4 420 Kelch 4. ovary(1)|central_nervous_system(1) 2 ATGCGGCCTGCAAAGGGCAGC 0.527 20 53 --- --- --- --- PASS BSCL2 26580 broad.mit.edu 37 11 62469965 62469965 + Missense_Mutation SNP G A A rs137852973 TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr11:62469965G>A uc001nuo.1 - 3 693 c.269C>T c.(268-270)TCG>TTG p.S90L BSCL2_uc009yoc.1_Missense_Mutation_p.S90L|BSCL2_uc001nup.2_Missense_Mutation_p.S90L|BSCL2_uc001nuq.1_Missense_Mutation_p.S90L|BSCL2_uc001nur.3_Missense_Mutation_p.S154L|BSCL2_uc009yod.2_Missense_Mutation_p.S154L|BSCL2_uc001nut.3_Missense_Mutation_p.S154L|HNRNPUL2_uc001nuu.1_RNA NM_032667 NP_116056 Q96G97 BSCL2_HUMAN seipin isoform 2 90 Lumenal (Potential). S -> L (in SPG17 and DSMAV). cell death integral to endoplasmic reticulum membrane 0 CTTAGTCAGCGAGACATTGGC 0.473 3 14 --- --- --- --- PASS STX5 6811 broad.mit.edu 37 11 62591738 62591738 + Missense_Mutation SNP C G G TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr11:62591738C>G uc001nvh.2 - 10 962 c.808G>C c.(808-810)GCA>CCA p.A270P STX5_uc010rmi.1_Missense_Mutation_p.A174P|STX5_uc009yoh.2_RNA|STX5_uc001nvi.2_Missense_Mutation_p.A216P|STX5_uc010rmj.1_Missense_Mutation_p.A270P|STX5_uc001nvj.2_Missense_Mutation_p.A85P NM_003164 NP_003155 Q13190 STX5_HUMAN syntaxin 5 270 t-SNARE coiled-coil homology.|Cytoplasmic (Potential). intracellular protein transport|retrograde transport, endosome to Golgi|vesicle targeting ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|nucleus|SNARE complex protein N-terminus binding|SNAP receptor activity ovary(1)|breast(1) 2 ATGGTGTCTGCCCGACTCTGG 0.498 15 62 --- --- --- --- PASS RTN3 10313 broad.mit.edu 37 11 63517542 63517542 + Silent SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr11:63517542G>T uc001nxq.2 + 4 2797 c.2610G>T c.(2608-2610)CTG>CTT p.L870L RTN3_uc001nxo.2_Silent_p.L74L|RTN3_uc001nxm.2_Silent_p.L93L|RTN3_uc001nxn.2_Silent_p.L851L|RTN3_uc001nxp.2_Silent_p.L74L|RTN3_uc009yov.2_Silent_p.L758L|RTN3_uc010rmt.1_RNA|RTN3_uc010rmu.1_Silent_p.L74L NM_201428 NP_958831 O95197 RTN3_HUMAN reticulon 3 isoform b 870 Helical; (Potential).|Reticulon. apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane ovary(1) 1 TGCTTTCCCTGGCAGCTTTCA 0.473 9 10 --- --- --- --- PASS PPP2R5B 5526 broad.mit.edu 37 11 64695367 64695367 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr11:64695367C>A uc001oby.2 + 4 1075 c.490C>A c.(490-492)CAC>AAC p.H164N PPP2R5B_uc001obz.2_Missense_Mutation_p.H164N NM_006244 NP_006235 Q15173 2A5B_HUMAN beta isoform of regulatory subunit B56, protein 164 signal transduction cytoplasm|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity ovary(2) 2 TTCGTGGCCACACCTGCAGGT 0.537 16 29 --- --- --- --- PASS NAALADL1 10004 broad.mit.edu 37 11 64813812 64813812 + Silent SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr11:64813812C>A uc001ocn.2 - 15 1720 c.1704G>T c.(1702-1704)GTG>GTT p.V568V NAALADL1_uc010rnw.1_Silent_p.V44V|NAALADL1_uc009ypz.2_RNA NM_005468 NP_005459 Q9UQQ1 NALDL_HUMAN N-acetylated alpha-linked acidic 568 NAALADase.|Extracellular (Potential). proteolysis apical plasma membrane|integral to membrane carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity 0 CTGTCCGGGCCACAGCCTGAT 0.612 10 18 --- --- --- --- PASS MUS81 80198 broad.mit.edu 37 11 65633352 65633352 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr11:65633352G>T uc001ofv.3 + 15 1929 c.1576G>T c.(1576-1578)GGG>TGG p.G526W MUS81_uc001ofw.3_RNA|MUS81_uc001ofx.3_Missense_Mutation_p.G83W NM_025128 NP_079404 Q96NY9 MUS81_HUMAN MUS81 endonuclease homolog 526 DNA recombination|DNA repair nucleolus 3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding 0 READ - Rectum adenocarcinoma(159;0.166) CATTAAGTGTGGGCGTCTACA 0.632 Homologous_recombination 17 43 --- --- --- --- PASS CHKA 1119 broad.mit.edu 37 11 67864490 67864490 + Missense_Mutation SNP T A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr11:67864490T>A uc001onj.2 - 2 672 c.458A>T c.(457-459)CAG>CTG p.Q153L CHKA_uc001onk.2_Missense_Mutation_p.Q153L NM_001277 NP_001268 P35790 CHKA_HUMAN choline kinase alpha isoform a 153 lipid transport|phosphatidylethanolamine biosynthetic process cytoplasm ATP binding|choline kinase activity|drug binding|ethanolamine kinase activity|signal transducer activity ovary(1)|central_nervous_system(1) 2 Choline(DB00122) ACTCACCATCTGCAAAATCGC 0.473 8 20 --- --- --- --- PASS SUV420H1 51111 broad.mit.edu 37 11 67925195 67925195 + Nonsense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr11:67925195G>T uc001onm.1 - 11 2874 c.2618C>A c.(2617-2619)TCA>TAA p.S873* SUV420H1_uc009yse.1_Nonsense_Mutation_p.S459*|SUV420H1_uc001onn.1_Nonsense_Mutation_p.S701*|SUV420H1_uc009ysf.2_Nonsense_Mutation_p.S633* NM_017635 NP_060105 Q4FZB7 SV421_HUMAN suppressor of variegation 4-20 homolog 1 isoform 873 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding ovary(2)|kidney(1) 3 TCTTCTCCTTGAAGAAATGTC 0.358 13 44 --- --- --- --- PASS UCP2 7351 broad.mit.edu 37 11 73688003 73688003 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr11:73688003C>A uc001oup.1 - 5 777 c.397G>T c.(397-399)GTG>TTG p.V133L UCP2_uc001ouq.1_Missense_Mutation_p.V133L NM_003355 NP_003346 P55851 UCP2_HUMAN uncoupling protein 2 133 Solcar 2.|Helical; Name=3; (Potential). proton transport|respiratory electron transport chain integral to membrane|mitochondrial inner membrane binding 0 Breast(11;0.000112) GGCTGGGCCACAGCCACAGCC 0.637 25 61 --- --- --- --- PASS C11orf30 56946 broad.mit.edu 37 11 76234316 76234316 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr11:76234316C>A uc001oxl.2 + 12 1945 c.1802C>A c.(1801-1803)ACA>AAA p.T601K C11orf30_uc001oxm.2_Missense_Mutation_p.T517K|C11orf30_uc010rsb.1_Missense_Mutation_p.T616K|C11orf30_uc010rsc.1_Missense_Mutation_p.T616K|C11orf30_uc001oxn.2_Missense_Mutation_p.T602K|C11orf30_uc010rsd.1_Missense_Mutation_p.T615K NM_020193 NP_064578 Q7Z589 EMSY_HUMAN EMSY protein 601 Thr-rich. chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(5)|skin(1) 6 AATGTTGTCACAACGTTGCTA 0.418 6 59 --- --- --- --- PASS RAB38 23682 broad.mit.edu 37 11 87908499 87908499 + Silent SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr11:87908499C>A uc001pcj.1 - 1 101 c.54G>T c.(52-54)CTG>CTT p.L18L hsa-mir-3166|MI0014196_5'Flank NM_022337 NP_071732 P57729 RAB38_HUMAN RAB38 18 GTP (By similarity). protein transport|small GTPase mediated signal transduction melanosome|plasma membrane GTP binding|GTPase activity upper_aerodigestive_tract(1)|large_intestine(1) 2 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) TCCCCACGCCCAGGTCGCCAA 0.637 13 31 --- --- --- --- PASS ZW10 9183 broad.mit.edu 37 11 113630951 113630951 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr11:113630951C>A uc001poe.2 - 5 597 c.560G>T c.(559-561)TGG>TTG p.W187L ZW10_uc009yyv.2_RNA NM_004724 NP_004715 O43264 ZW10_HUMAN centromere/kinetochore protein zw10 187 Interaction with RINT1. cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole centromeric DNA binding|protein binding central_nervous_system(1)|skin(1) 2 all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786) TGGGAACTTCCATACAATCAG 0.398 20 46 --- --- --- --- PASS VWA5A 4013 broad.mit.edu 37 11 124006897 124006897 + Missense_Mutation SNP A T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr11:124006897A>T uc001pzu.2 + 13 1630 c.1421A>T c.(1420-1422)CAT>CTT p.H474L VWA5A_uc001pzt.2_Missense_Mutation_p.H474L NM_001130142 NP_001123614 O00534 VMA5A_HUMAN BCSC-1 isoform 1 474 upper_aerodigestive_tract(1)|ovary(1) 2 CTGAGCTGGCATTTGCCTCCT 0.493 56 98 --- --- --- --- PASS OR8B12 219858 broad.mit.edu 37 11 124412838 124412838 + Missense_Mutation SNP C G G rs61747005 byFrequency TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr11:124412838C>G uc010sam.1 - 1 713 c.713G>C c.(712-714)AGT>ACT p.S238T NM_001005195 NP_001005195 Q8NGG6 OR8BC_HUMAN olfactory receptor, family 8, subfamily B, 238 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1)|skin(1) 3 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213) ACTGCAAGTACTAAAGGCTTT 0.448 10 13 --- --- --- --- PASS SLC37A2 219855 broad.mit.edu 37 11 124950581 124950581 + Missense_Mutation SNP G A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr11:124950581G>A uc001qbn.2 + 7 850 c.599G>A c.(598-600)GGC>GAC p.G200D SLC37A2_uc010sau.1_Missense_Mutation_p.G200D|SLC37A2_uc010sav.1_5'Flank|SLC37A2_uc001qbp.2_5'Flank NM_001145290 NP_001138762 Q8TED4 SPX2_HUMAN solute carrier family 37 (glycerol-3-phosphate 200 Helical; (Potential). carbohydrate transport|transmembrane transport integral to membrane ovary(2) 2 all_hematologic(175;0.215) Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384) CTGATCGCCGGCATCTGGGTG 0.592 3 45 --- --- --- --- PASS KCNJ1 3758 broad.mit.edu 37 11 128710080 128710080 + Missense_Mutation SNP C T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr11:128710080C>T uc001qeo.1 - 2 167 c.116G>A c.(115-117)AGA>AAA p.R39K KCNJ1_uc001qep.1_Missense_Mutation_p.R20K|KCNJ1_uc001qeq.1_Missense_Mutation_p.R20K|KCNJ1_uc001qer.1_Missense_Mutation_p.R20K|KCNJ1_uc001qes.1_Missense_Mutation_p.R20K NM_000220 NP_000211 P48048 IRK1_HUMAN potassium inwardly-rectifying channel J1 isoform 39 Cytoplasmic (By similarity). excretion voltage-gated potassium channel complex ATP binding|inward rectifier potassium channel activity ovary(3)|breast(1) 4 all_hematologic(175;0.0641) all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942) Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124) TAGCCTTGCTCTTTGCCGAGA 0.428 30 93 --- --- --- --- PASS GLB1L2 89944 broad.mit.edu 37 11 134212652 134212652 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr11:134212652G>T uc001qhp.2 + 2 279 c.91G>T c.(91-93)GAC>TAC p.D31Y NM_138342 NP_612351 Q8IW92 GLBL2_HUMAN galactosidase, beta 1-like 2 precursor 31 carbohydrate metabolic process extracellular region cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds ovary(1)|pancreas(1)|skin(1) 3 all_hematologic(175;0.127) all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844) Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223) TTCCAGGCTGGACTGGAGCAC 0.617 13 36 --- --- --- --- PASS IQSEC3 440073 broad.mit.edu 37 12 247966 247966 + Silent SNP G C C TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr12:247966G>C uc001qhw.1 + 1 534 c.528G>C c.(526-528)GGG>GGC p.G176G IQSEC3_uc001qhu.1_Silent_p.G176G|IQSEC3_uc001qht.1_Silent_p.G261G|uc001qhv.1_Intron NM_015232 NP_056047 Q9UPP2 IQEC3_HUMAN IQ motif and Sec7 domain 3 479 regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity central_nervous_system(2)|large_intestine(1)|skin(1) 4 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) CCCACAGCGGGACCCTCATGA 0.488 5 15 --- --- --- --- PASS A2ML1 144568 broad.mit.edu 37 12 9009811 9009811 + Missense_Mutation SNP C G G TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr12:9009811C>G uc001quz.3 + 24 2998 c.2900C>G c.(2899-2901)CCC>CGC p.P967R A2ML1_uc001qva.1_Missense_Mutation_p.P547R|A2ML1_uc010sgm.1_Missense_Mutation_p.P467R NM_144670 NP_653271 A8K2U0 A2ML1_HUMAN alpha-2-macroglobulin-like 1 precursor 811 extracellular space endopeptidase inhibitor activity ovary(2)|skin(1) 3 GTGCAGATGCCCAGTGGCTGT 0.547 27 50 --- --- --- --- PASS PRB1 5542 broad.mit.edu 37 12 11506888 11506888 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr12:11506888G>T uc001qzw.1 - 3 186 c.149C>A c.(148-150)CCC>CAC p.P50H PRB1_uc001qzu.1_Missense_Mutation_p.P50H|PRB1_uc001qzv.1_Missense_Mutation_p.P50H NM_005039 NP_005030 P04280 PRP1_HUMAN proline-rich protein BstNI subfamily 1 isoform 1 50 extracellular region 0 OV - Ovarian serous cystadenocarcinoma(49;0.185) AGGAGGTGGGGGGCCCTGGGG 0.567 51 114 --- --- --- --- PASS LRP6 4040 broad.mit.edu 37 12 12315200 12315200 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr12:12315200C>A uc001rah.3 - 10 2348 c.2206G>T c.(2206-2208)GGG>TGG p.G736W BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.G736W NM_002336 NP_002327 O75581 LRP6_HUMAN low density lipoprotein receptor-related protein 736 Extracellular (Potential).|Beta-propeller 3.|LDL-receptor class B 12. 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) CGGTGCTGCCCATCCAACTTT 0.498 31 71 --- --- --- --- PASS GRIN2B 2904 broad.mit.edu 37 12 13715977 13715977 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr12:13715977G>T uc001rbt.2 - 13 4374 c.4195C>A c.(4195-4197)CAT>AAT p.H1399N NM_000834 NP_000825 Q13224 NMDE2_HUMAN N-methyl-D-aspartate receptor subunit 2B 1399 Cytoplasmic (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding central_nervous_system(4)|ovary(3)|skin(3)|lung(2) 12 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TTGCTGCCATGGAGCAAGCAC 0.627 12 36 --- --- --- --- PASS CCDC91 55297 broad.mit.edu 37 12 28458699 28458699 + Missense_Mutation SNP C G G TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr12:28458699C>G uc001riq.2 + 3 243 c.227C>G c.(226-228)GCA>GGA p.A76G CCDC91_uc001rio.2_Missense_Mutation_p.A46G|CCDC91_uc009zjk.2_RNA|CCDC91_uc001rip.1_Missense_Mutation_p.A76G|CCDC91_uc001rir.2_5'UTR|CCDC91_uc009zjl.2_5'Flank NM_018318 NP_060788 Q7Z6B0 CCD91_HUMAN GGA binding partner 76 protein transport Golgi apparatus|membrane central_nervous_system(1) 1 Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184) AATACACATGCAGCAAATAGC 0.383 46 96 --- --- --- --- PASS LRRK2 120892 broad.mit.edu 37 12 40761490 40761490 + Nonsense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr12:40761490G>T uc001rmg.3 + 51 7628 c.7507G>T c.(7507-7509)GAA>TAA p.E2503* LRRK2_uc009zjw.2_Nonsense_Mutation_p.E1341*|LRRK2_uc001rmi.2_3'UTR NM_198578 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 2503 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1) 24 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) TCTTCCACATGAAGTGCAAAA 0.313 13 37 --- --- --- --- PASS ARID2 196528 broad.mit.edu 37 12 46244156 46244156 + Silent SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr12:46244156G>T uc001ros.1 + 15 2250 c.2250G>T c.(2248-2250)GGG>GGT p.G750G ARID2_uc001ror.2_Silent_p.G750G|ARID2_uc009zkg.1_Silent_p.G206G|ARID2_uc009zkh.1_Silent_p.G377G|ARID2_uc001rou.1_Silent_p.G84G NM_152641 NP_689854 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 750 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(6)|skin(3)|upper_aerodigestive_tract(1) 10 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) ATAGTACAGGGCCACAACCTG 0.463 3 57 --- --- --- --- PASS COL2A1 1280 broad.mit.edu 37 12 48393728 48393728 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr12:48393728C>A uc001rqu.2 - 2 447 c.266G>T c.(265-267)TGC>TTC p.C89F COL2A1_uc001rqv.2_Intron NM_001844 NP_001835 P02458 CO2A1_HUMAN collagen, type II, alpha 1 isoform 1 precursor 89 VWFC. axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) GTCAGTTGGGCAGATGGGGCA 0.493 11 36 --- --- --- --- PASS PRPH 5630 broad.mit.edu 37 12 49691238 49691238 + Silent SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr12:49691238G>T uc001rtu.2 + 6 1170 c.1095G>T c.(1093-1095)CTG>CTT p.L365L NM_006262 NP_006253 P41219 PERI_HUMAN peripherin 365 Coil 2.|Rod. structural molecule activity 0 AGGAGGAGCTGCGACAGCTAA 0.652 OREG0021790 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 7 --- --- --- --- PASS DNAJC22 79962 broad.mit.edu 37 12 49743486 49743486 + Silent SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr12:49743486G>T uc001rua.2 + 2 1232 c.831G>T c.(829-831)CTG>CTT p.L277L DNAJC22_uc001rub.2_Silent_p.L277L NM_024902 NP_079178 Q8N4W6 DJC22_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 22 277 J. protein folding integral to membrane heat shock protein binding|unfolded protein binding ovary(1) 1 AGCGTCAGCTGGCTTACCAGG 0.537 8 76 --- --- --- --- PASS TMPRSS12 283471 broad.mit.edu 37 12 51281183 51281183 + Missense_Mutation SNP T G G TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr12:51281183T>G uc001rwx.3 + 5 981 c.934T>G c.(934-936)TGG>GGG p.W312G TMPRSS12_uc001rwy.2_3'UTR NM_182559 NP_872365 Q86WS5 TMPSC_HUMAN transmembrane protease, serine 12 precursor 312 Peptidase S1.|Extracellular (Potential). proteolysis integral to membrane serine-type endopeptidase activity 0 CTACCAAAAGTGGCTGACAGA 0.393 34 50 --- --- --- --- PASS KRT82 3888 broad.mit.edu 37 12 52788838 52788838 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr12:52788838C>A uc001sai.1 - 9 1578 c.1463G>T c.(1462-1464)GGG>GTG p.G488V NM_033033 NP_149022 Q9NSB4 KRT82_HUMAN keratin 82 488 Tail. keratin filament protein binding|structural constituent of epidermis ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(357;0.193) GCTCAGTAGCCCCTGGGGCTC 0.637 17 23 --- --- --- --- PASS KRT74 121391 broad.mit.edu 37 12 52967271 52967271 + Silent SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr12:52967271C>A uc001sap.1 - 1 339 c.291G>T c.(289-291)GTG>GTT p.V97V NM_175053 NP_778223 Q7RTS7 K2C74_HUMAN keratin 6 irs4 97 Head.|Gly-rich. keratin filament structural molecule activity ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(357;0.191) GCCCCAGGGCCACACTGCCAA 0.647 12 47 --- --- --- --- PASS KRT2 3849 broad.mit.edu 37 12 53045530 53045530 + Nonsense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr12:53045530C>A uc001sat.2 - 1 430 c.397G>T c.(397-399)GGA>TGA p.G133* NM_000423 NP_000414 P35908 K22E_HUMAN keratin 2 133 Head. keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation Golgi apparatus|keratin filament protein binding|structural constituent of cytoskeleton ovary(2) 2 BRCA - Breast invasive adenocarcinoma(357;0.19) CCTAAacctccaacaccacca 0.279 5 19 --- --- --- --- PASS ITGB7 3695 broad.mit.edu 37 12 53585733 53585733 + Silent SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr12:53585733C>A uc009zmv.2 - 14 2297 c.2226G>T c.(2224-2226)CTG>CTT p.L742L ITGB7_uc001scc.2_Silent_p.L742L|ITGB7_uc010snz.1_RNA NM_000889 NP_000880 P26010 ITB7_HUMAN integrin, beta 7 precursor 742 Helical; (Potential). cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response integrin complex identical protein binding|metal ion binding|receptor activity ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|breast(1) 8 AAGCCAGGACCAGCCCCAGCC 0.587 4 24 --- --- --- --- PASS MIP 4284 broad.mit.edu 37 12 56848109 56848109 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr12:56848109C>A uc001slh.2 - 1 321 c.289G>T c.(289-291)GCT>TCT p.A97S NM_012064 NP_036196 P30301 MIP_HUMAN major intrinsic protein of lens fiber 97 Helical; (By similarity). response to stimulus|visual perception gap junction|integral to plasma membrane structural constituent of eye lens skin(1) 1 CCAGCCACAGCTCCCAGGAGC 0.587 4 53 --- --- --- --- PASS LRP1 4035 broad.mit.edu 37 12 57562984 57562984 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr12:57562984G>T uc001snd.2 + 20 3523 c.3057G>T c.(3055-3057)CAG>CAT p.Q1019H LRP1_uc009zpi.1_RNA NM_002332 NP_002323 Q07954 LRP1_HUMAN low density lipoprotein-related protein 1 1019 LDL-receptor class A 7.|Extracellular (Potential). aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2) 22 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CTAGCACCCAGTTCAAGTGCA 0.597 8 49 --- --- --- --- PASS AGAP2 116986 broad.mit.edu 37 12 58122159 58122159 + Silent SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr12:58122159G>T uc001spq.2 - 14 2559 c.2559C>A c.(2557-2559)GCC>GCA p.A853A AGAP2_uc001spo.1_5'Flank|AGAP2_uc001spp.2_Silent_p.A852A|AGAP2_uc001spr.2_Intron NM_001122772 NP_001116244 Q99490 AGAP2_HUMAN centaurin, gamma 1 isoform PIKE-L 853 PH. axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction mitochondrion|nucleolus ARF GTPase activator activity|GTP binding|zinc ion binding central_nervous_system(3)|breast(2) 5 TTTTGCGCTTGGCTGGTTTCC 0.274 3 14 --- --- --- --- PASS TMCC3 57458 broad.mit.edu 37 12 94975615 94975615 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr12:94975615C>A uc001tdj.2 - 2 896 c.778G>T c.(778-780)GGC>TGC p.G260C TMCC3_uc001tdi.2_Missense_Mutation_p.G229C NM_020698 NP_065749 Q9ULS5 TMCC3_HUMAN transmembrane and coiled-coil domain family 3 260 integral to membrane ovary(1)|skin(1) 2 CCTGACGTGCCACTCGAACAT 0.597 14 40 --- --- --- --- PASS GOLGA2B 55592 broad.mit.edu 37 12 100551470 100551470 + Silent SNP T A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr12:100551470T>A uc001tgs.2 - 4 570 c.126A>T c.(124-126)GCA>GCT p.A42A GOLGA2B_uc001tgt.2_RNA|GOLGA2B_uc001tgu.2_Silent_p.A42A|uc001tgx.2_5'Flank NM_017600 NP_060070 golgi autoantigen, golgin subfamily a, 2-like 1 0 CACATAGCCGTGCCTGCTCCT 0.597 8 23 --- --- --- --- PASS CHST11 50515 broad.mit.edu 37 12 105150891 105150891 + Silent SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr12:105150891G>T uc001tkx.1 + 4 660 c.369G>T c.(367-369)GTG>GTT p.V123V CHST11_uc001tky.2_Silent_p.V118V|uc001tkz.2_5'Flank NM_018413 NP_060883 Q9NPF2 CHSTB_HUMAN carbohydrate sulfotransferase 11 123 Lumenal (Potential). chondroitin sulfate biosynthetic process Golgi membrane|integral to membrane chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity 0 ACTGCTACGTGCCCAAGGTGG 0.632 11 20 --- --- --- --- PASS CCDC63 160762 broad.mit.edu 37 12 111336788 111336788 + Missense_Mutation SNP G C C rs116589141 by1000genomes TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr12:111336788G>C uc001trv.1 + 10 1396 c.1201G>C c.(1201-1203)GGG>CGG p.G401R CCDC63_uc010sye.1_Missense_Mutation_p.G361R|CCDC63_uc001trw.1_Missense_Mutation_p.G316R NM_152591 NP_689804 Q8NA47 CCD63_HUMAN coiled-coil domain containing 63 401 Potential. skin(6)|ovary(1)|pancreas(1) 8 GAGCAAGTACGGGGAGGTCAG 0.512 8 29 --- --- --- --- PASS CCDC63 160762 broad.mit.edu 37 12 111342571 111342571 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr12:111342571C>A uc001trv.1 + 11 1717 c.1522C>A c.(1522-1524)CCC>ACC p.P508T CCDC63_uc010sye.1_Missense_Mutation_p.P468T|CCDC63_uc001trw.1_Missense_Mutation_p.P423T NM_152591 NP_689804 Q8NA47 CCD63_HUMAN coiled-coil domain containing 63 508 skin(6)|ovary(1)|pancreas(1) 8 GGGGGCTGACCCCTTCAGCGA 0.592 21 45 --- --- --- --- PASS TBX3 6926 broad.mit.edu 37 12 115114251 115114251 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr12:115114251C>A uc001tvt.1 - 6 1930 c.966G>T c.(964-966)ATG>ATT p.M322I TBX3_uc001tvu.1_Missense_Mutation_p.M302I NM_016569 NP_057653 O15119 TBX3_HUMAN T-box 3 protein isoform 2 322 anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development nucleus sequence-specific DNA binding ovary(2)|skin(1) 3 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0574) CAAACACCCTCATGGACTGCA 0.483 23 58 --- --- --- --- PASS KSR2 283455 broad.mit.edu 37 12 118199236 118199236 + Missense_Mutation SNP G A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr12:118199236G>A uc001two.2 - 4 534 c.479C>T c.(478-480)CCG>CTG p.P160L NM_173598 NP_775869 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 189 Pro-rich. intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity p.C160C(1) lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1) 15 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GCGGATCCACGGGGTGGGCTC 0.637 12 33 --- --- --- --- PASS SIRT4 23409 broad.mit.edu 37 12 120741815 120741815 + Missense_Mutation SNP A G G TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr12:120741815A>G uc001tyc.2 + 2 471 c.451A>G c.(451-453)AAG>GAG p.K151E NM_012240 NP_036372 Q9Y6E7 SIRT4_HUMAN sirtuin 4 151 Deacetylase sirtuin-type. chromatin silencing|negative regulation of insulin secretion|protein ADP-ribosylation|protein deacetylation mitochondrial matrix hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding 0 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TTTGCACACCAAGGCGGGGAG 0.567 9 27 --- --- --- --- PASS TMEM132B 114795 broad.mit.edu 37 12 126138253 126138253 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr12:126138253G>T uc001uhe.1 + 9 2242 c.2234G>T c.(2233-2235)TGG>TTG p.W745L TMEM132B_uc001uhf.1_Missense_Mutation_p.W257L NM_052907 NP_443139 Q14DG7 T132B_HUMAN transmembrane protein 132B 745 Extracellular (Potential). integral to membrane skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1) 19 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) GAGTCCAAATGGCCAATTGTG 0.423 19 53 --- --- --- --- PASS DDX51 317781 broad.mit.edu 37 12 132625014 132625014 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr12:132625014G>T uc001ujy.3 - 11 1666 c.1627C>A c.(1627-1629)CAG>AAG p.Q543K NM_175066 NP_778236 Q8N8A6 DDX51_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 51 543 Helicase C-terminal. rRNA processing nucleolus ATP binding|ATP-dependent helicase activity|RNA binding lung(1)|pancreas(1) 2 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.241) OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05) ATCCTCCTCTGGCCAGGCCCG 0.622 16 39 --- --- --- --- PASS BRCA2 675 broad.mit.edu 37 13 32930590 32930590 + Silent SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr13:32930590C>A uc001uub.1 + 15 7688 c.7461C>A c.(7459-7461)GCC>GCA p.A2487A NM_000059 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 2487 Interaction with FANCD2. cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1) 64 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) TTCAGAATGCCAGAGATATAC 0.328 D|Mis|N|F|S breast|ovarian|pancreatic breast|ovarian|pancreatic|leukemia (FANCB|FANCD1) Direct_reversal_of_damage|Homologous_recombination Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome TCGA Ovarian(8;0.087) 26 68 --- --- --- --- PASS RCBTB2 1102 broad.mit.edu 37 13 49085987 49085987 + Silent SNP G A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr13:49085987G>A uc001vch.2 - 9 1073 c.702C>T c.(700-702)AAC>AAT p.N234N RCBTB2_uc010tgg.1_Silent_p.N239N|RCBTB2_uc001vci.2_Silent_p.N210N|RCBTB2_uc010tgh.1_Missense_Mutation_p.T8M|RCBTB2_uc001vcj.2_Silent_p.N238N|RCBTB2_uc010acv.1_RNA|RCBTB2_uc010tgi.1_Silent_p.N210N NM_001268 NP_001259 O95199 RCBT2_HUMAN regulator of chromosome condensation and BTB 234 RCC1 4. Ran guanyl-nucleotide exchange factor activity ovary(2)|lung(2)|skin(1) 5 all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116) CAAGCTGCCCGTTTCCGTTGT 0.532 3 28 --- --- --- --- PASS PCDH8 5100 broad.mit.edu 37 13 53422390 53422390 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr13:53422390G>T uc001vhi.2 - 1 385 c.182C>A c.(181-183)ACA>AAA p.T61K PCDH8_uc001vhj.2_Missense_Mutation_p.T61K NM_002590 NP_002581 O95206 PCDH8_HUMAN protocadherin 8 isoform 1 precursor 61 Extracellular (Potential).|Cadherin 1. cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding breast(1) 1 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) GCGGAAGCTTGTGTCACCCGA 0.637 33 38 --- --- --- --- PASS KLHDC2 23588 broad.mit.edu 37 14 50246968 50246968 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr14:50246968C>A uc001wwx.2 + 9 1211 c.811C>A c.(811-813)CAC>AAC p.H271N SDCCAG1_uc010anj.1_Intron|KLHDC2_uc001wwy.2_Missense_Mutation_p.H271N|KLHDC2_uc010anp.2_Missense_Mutation_p.H271N NM_014315 NP_055130 Q9Y2U9 KLDC2_HUMAN kelch domain containing 2 271 Kelch 4. nucleus protein binding ovary(1) 1 all_epithelial(31;0.000959)|Breast(41;0.0117) TCGATCTTGGCACTCACTAAC 0.348 23 96 --- --- --- --- PASS ATP5S 27109 broad.mit.edu 37 14 50789330 50789330 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr14:50789330G>T uc001wxw.1 + 3 946 c.254G>T c.(253-255)TGG>TTG p.W85L ATP5S_uc001wxv.2_Missense_Mutation_p.W85L|ATP5S_uc001wxx.1_Missense_Mutation_p.W85L|ATP5S_uc010ant.1_Missense_Mutation_p.W57L NM_001003803 NP_001003803 Q99766 ATP5S_HUMAN ATP synthase, H+ transporting, mitochondrial F0 85 ATP biosynthetic process mitochondrial inner membrane|proton-transporting ATP synthase complex, coupling factor F(o) hydrogen ion transmembrane transporter activity ovary(1)|skin(1) 2 all_epithelial(31;0.000636)|Breast(41;0.0102) OV - Ovarian serous cystadenocarcinoma(311;0.0685) CAGGAGAGGTGGCAGAAGGAC 0.557 24 45 --- --- --- --- PASS SIX4 51804 broad.mit.edu 37 14 61190688 61190688 + Silent SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr14:61190688C>A uc001xfc.2 - 1 105 c.105G>T c.(103-105)GTG>GTT p.V35V SIX4_uc010app.1_Silent_p.V27V NM_017420 NP_059116 Q9UIU6 SIX4_HUMAN sine oculis homeobox homolog 4 35 nucleus breast(3)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(108;0.0275) CGCCCCCCGCCACTTCTCGGT 0.716 9 35 --- --- --- --- PASS TMEM30B 161291 broad.mit.edu 37 14 61747089 61747089 + Silent SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr14:61747089C>A uc001xfl.2 - 1 1442 c.777G>T c.(775-777)CTG>CTT p.L259L PRKCH_uc010tsa.1_Intron|TMEM30B_uc010apr.1_RNA NM_001017970 NP_001017970 Q3MIR4 CC50B_HUMAN transmembrane protein 30B 259 integral to membrane 0 OV - Ovarian serous cystadenocarcinoma(108;0.107)|BRCA - Breast invasive adenocarcinoma(234;0.181) GGAACGTGGGCAGCGCCGCCG 0.672 6 25 --- --- --- --- PASS MAP3K9 4293 broad.mit.edu 37 14 71199923 71199923 + Silent SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr14:71199923G>T uc001xmm.2 - 11 2163 c.2163C>A c.(2161-2163)CCC>CCA p.P721P MAP3K9_uc010ttk.1_Silent_p.P449P|MAP3K9_uc001xmk.2_Silent_p.P454P|MAP3K9_uc001xml.2_Silent_p.P735P NM_033141 NP_149132 P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 721 activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity stomach(2)|lung(1)|central_nervous_system(1)|skin(1) 5 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) TGACTGGGGTGGGCTCCTCAT 0.562 16 44 --- --- --- --- PASS PAPLN 89932 broad.mit.edu 37 14 73718255 73718255 + Silent SNP T C C TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr14:73718255T>C uc010ttx.1 + 7 814 c.651T>C c.(649-651)GCT>GCC p.A217A PAPLN_uc001xnw.3_Intron|PAPLN_uc010arl.2_RNA|PAPLN_uc010ttw.1_Intron|PAPLN_uc010tty.1_Silent_p.A217A NM_173462 NP_775733 O95428 PPN_HUMAN papilin 217 proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468) ACGAGGCTGCTGCCAGCAGGA 0.632 21 32 --- --- --- --- PASS PAPLN 89932 broad.mit.edu 37 14 73727902 73727902 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr14:73727902G>T uc010ttx.1 + 17 2308 c.2145G>T c.(2143-2145)GAG>GAT p.E715D PAPLN_uc001xnw.3_Missense_Mutation_p.E688D|PAPLN_uc010arl.2_RNA|PAPLN_uc010ttw.1_RNA|PAPLN_uc010tty.1_Missense_Mutation_p.E715D|PAPLN_uc010arm.2_5'UTR|PAPLN_uc010arn.2_5'Flank NM_173462 NP_775733 O95428 PPN_HUMAN papilin 715 proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468) AGCAGAATGAGCCCAGTGAGT 0.627 13 40 --- --- --- --- PASS UBR7 55148 broad.mit.edu 37 14 93686640 93686640 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr14:93686640G>T uc001ybm.3 + 9 1242 c.1006G>T c.(1006-1008)GAC>TAC p.D336Y UBR7_uc001ybn.3_Missense_Mutation_p.D260Y|UBR7_uc010auq.2_Missense_Mutation_p.D185Y NM_175748 NP_786924 Q8N806 UBR7_HUMAN ubiquitin protein ligase E3 component n-recognin 336 ubiquitin-protein ligase activity|zinc ion binding 0 AGATGAATACGACACAGTTCT 0.403 32 58 --- --- --- --- PASS DYNC1H1 1778 broad.mit.edu 37 14 102484926 102484926 + Silent SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr14:102484926C>A uc001yks.2 + 41 8480 c.8316C>A c.(8314-8316)GCC>GCA p.A2772A DYNC1H1_uc001ykt.1_Silent_p.A263A NM_001376 NP_001367 Q14204 DYHC1_HUMAN cytoplasmic dynein 1 heavy chain 1 2772 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 TCACTGCTGCCATGGTGGAGT 0.512 4 27 --- --- --- --- PASS WDR20 91833 broad.mit.edu 37 14 102606387 102606387 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr14:102606387C>A uc001ykz.2 + 1 176 c.127C>A c.(127-129)CAG>AAG p.Q43K WDR20_uc001yky.1_5'UTR|WDR20_uc001yla.2_5'UTR|WDR20_uc001ylb.2_Missense_Mutation_p.Q43K|WDR20_uc010txu.1_Missense_Mutation_p.Q43K|WDR20_uc001ylc.2_Missense_Mutation_p.Q43K|WDR20_uc001yld.2_Missense_Mutation_p.Q43K|WDR20_uc001yle.2_Missense_Mutation_p.Q43K|WDR20_uc001ylf.2_Missense_Mutation_p.Q43K|HSP90AA1_uc001ykv.3_5'Flank NM_144574 NP_653175 Q8TBZ3 WDR20_HUMAN WD repeat domain 20 isoform 2 43 0 CTTCAACTCGCAGGGATCCAA 0.592 18 44 --- --- --- --- PASS WDR20 91833 broad.mit.edu 37 14 102675626 102675626 + Silent SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr14:102675626C>A uc001ykz.2 + 3 1168 c.1119C>A c.(1117-1119)GGC>GGA p.G373G WDR20_uc001yky.1_Silent_p.G116G|WDR20_uc001yla.2_Silent_p.G249G|WDR20_uc001ylb.2_Silent_p.G312G|WDR20_uc010txu.1_Silent_p.G404G|WDR20_uc001ylc.2_Intron|WDR20_uc001yld.2_Silent_p.G373G|WDR20_uc001yle.2_Silent_p.G312G|WDR20_uc001ylf.2_Silent_p.G385G NM_144574 NP_653175 Q8TBZ3 WDR20_HUMAN WD repeat domain 20 isoform 2 373 WD 4. 0 GTTCCGTGGGCCAGGACACAC 0.507 OREG0022939 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 34 --- --- --- --- PASS EIF5 1983 broad.mit.edu 37 14 103805111 103805111 + Nonsense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr14:103805111G>T uc001ymq.2 + 8 1147 c.625G>T c.(625-627)GAG>TAG p.E209* EIF5_uc001ymr.2_Nonsense_Mutation_p.E209*|EIF5_uc001yms.2_Nonsense_Mutation_p.E209*|EIF5_uc001ymt.2_Nonsense_Mutation_p.E209*|EIF5_uc001ymu.2_Nonsense_Mutation_p.E209* NM_001969 NP_001960 P55010 IF5_HUMAN eukaryotic translation initiation factor 5 209 regulation of translational initiation|RNA metabolic process cytosol GTP binding|GTPase activity|translation initiation factor activity pancreas(1)|breast(1)|skin(1) 3 Melanoma(154;0.155) Epithelial(46;0.182) AGATACAACTGAGGAAGCTCA 0.408 22 40 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106866535 106866535 + RNA SNP A G G TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr14:106866535A>G uc010tyt.1 - 281 c.11696T>C Parts of antibodies, mostly variable regions. 0 AGTATGTGCTACCACCACTAA 0.532 33 86 --- --- --- --- PASS GPR176 11245 broad.mit.edu 37 15 40094103 40094103 + Silent SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr15:40094103G>T uc001zkj.1 - 3 1644 c.778C>A c.(778-780)CGG>AGG p.R260R GPR176_uc010uck.1_Silent_p.R200R NM_007223 NP_009154 Q14439 GP176_HUMAN G protein-coupled receptor 176 260 Cytoplasmic (Potential). synaptic transmission integral to plasma membrane G-protein coupled receptor activity ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1) 6 all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123) TCGGCCTCCCGCTGGGAGGCA 0.592 OREG0023053 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 36 --- --- --- --- PASS BUB1B 701 broad.mit.edu 37 15 40509756 40509756 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr15:40509756C>A uc001zkx.3 + 21 2950 c.2738C>A c.(2737-2739)TCC>TAC p.S913Y PAK6_uc010bbl.2_5'UTR|PAK6_uc010bbm.2_5'UTR NM_001211 NP_001202 O60566 BUB1B_HUMAN budding uninhibited by benzimidazoles 1 beta 913 Protein kinase. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone ATP binding|protein binding|protein serine/threonine kinase activity stomach(2)|ovary(1)|kidney(1) 4 all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556) GTGGACTTTTCCTACAGTGTT 0.433 Mis|N|F|S rhabdomyosarcoma Mosaic_Variegated_Aneuploidy_Syndrome 5 258 --- --- --- --- PASS GANC 2595 broad.mit.edu 37 15 42621565 42621565 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr15:42621565C>A uc001zpi.2 + 14 1876 c.1562C>A c.(1561-1563)CCA>CAA p.P521Q NM_198141 NP_937784 Q8TET4 GANC_HUMAN glucosidase, alpha; neutral C 521 carbohydrate metabolic process carbohydrate binding|maltose alpha-glucosidase activity central_nervous_system(2) 2 all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153) GBM - Glioblastoma multiforme(94;1.06e-06) TTTAGAGGGCCAGAGCAAACC 0.438 43 71 --- --- --- --- PASS TGM5 9333 broad.mit.edu 37 15 43527059 43527059 + Missense_Mutation SNP G A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr15:43527059G>A uc001zrd.1 - 11 1791 c.1783C>T c.(1783-1785)CGC>TGC p.R595C TGM5_uc001zrc.1_Missense_Mutation_p.R252C|TGM5_uc001zre.1_Missense_Mutation_p.R513C NM_201631 NP_963925 O43548 TGM5_HUMAN transglutaminase 5 isoform 1 595 epidermis development|peptide cross-linking cytoplasm acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity central_nervous_system(1) 1 all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;4e-07) L-Glutamine(DB00130) GCACTGATGCGGATCAGCTTG 0.463 17 59 --- --- --- --- PASS TUBGCP4 27229 broad.mit.edu 37 15 43690301 43690301 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr15:43690301G>T uc001zro.2 + 13 1585 c.1345G>T c.(1345-1347)GGC>TGC p.G449C TUBGCP4_uc001zrn.2_Missense_Mutation_p.G448C|TUBGCP4_uc010bdh.2_RNA NM_014444 NP_055259 Q9UGJ1 GCP4_HUMAN tubulin, gamma complex associated protein 4 449 G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole structural constituent of cytoskeleton ovary(3) 3 all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;3.53e-07) CCCTGCATCTGGCTGGGCAGC 0.473 5 154 --- --- --- --- PASS MYO5A 4644 broad.mit.edu 37 15 52622577 52622577 + Nonsense_Mutation SNP G A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr15:52622577G>A uc002aby.2 - 34 4697 c.4453C>T c.(4453-4455)CAA>TAA p.Q1485* MYO5A_uc002abx.3_Nonsense_Mutation_p.Q1458*|MYO5A_uc010ugd.1_Nonsense_Mutation_p.Q207*|MYO5A_uc002abz.1_RNA NM_000259 NP_000250 Q9Y4I1 MYO5A_HUMAN myosin VA isoform 1 1485 actin filament-based movement|transport cytoplasm|growth cone|myosin complex|ruffle actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(3)|central_nervous_system(1) 4 all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196) ACAAGTTTTTGCTCATCCTCC 0.423 7 218 --- --- --- --- PASS PRTG 283659 broad.mit.edu 37 15 55912220 55912220 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr15:55912220G>T uc002adg.2 - 20 3491 c.3443C>A c.(3442-3444)CCC>CAC p.P1148H NM_173814 NP_776175 Q2VWP7 PRTG_HUMAN protogenin precursor 1148 multicellular organismal development integral to membrane large_intestine(1)|ovary(1)|skin(1) 3 all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135) TCAGAGGTTGGGGGGTGTGGT 0.493 16 28 --- --- --- --- PASS LIPC 3990 broad.mit.edu 37 15 58855731 58855731 + Silent SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr15:58855731G>T uc010bga.1 + 10 1805 c.1197G>T c.(1195-1197)ACG>ACT p.T399T LIPC_uc010bfz.1_Silent_p.T399T|LIPC_uc002afa.1_Silent_p.T399T|LIPC_uc010bgb.1_Silent_p.T297T|LIPC_uc010ugy.1_Silent_p.T338T NM_000236 NP_000227 P11150 LIPC_HUMAN lipase C precursor 399 PLAT. cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling high-density lipoprotein particle apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity ovary(1) 1 Colorectal(260;0.215) GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548) GTAATAAAACGTATTCCTTTC 0.443 17 31 --- --- --- --- PASS FOXB1 27023 broad.mit.edu 37 15 60298080 60298080 + Silent SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr15:60298080C>A uc002agj.1 + 2 1397 c.918C>A c.(916-918)GCC>GCA p.A306A FOXB1_uc010bgh.1_Intron NM_012182 NP_036314 Q99853 FOXB1_HUMAN forkhead box B1 306 axon target recognition|cell migration in diencephalon|epithelial cell differentiation involved in mammary gland alveolus development|floor plate development|hypothalamus cell migration|inferior colliculus development|lactation|mammillothalamic axonal tract development|negative regulation of neuron apoptosis|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|telencephalon cell migration|visual learning transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding ovary(1)|central_nervous_system(1) 2 GCAGCCCCGCCACCCCCAGCG 0.711 4 7 --- --- --- --- PASS DENND4A 10260 broad.mit.edu 37 15 66048743 66048743 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr15:66048743C>A uc002aph.2 - 3 424 c.46G>T c.(46-48)GCA>TCA p.A16S DENND4A_uc002api.2_Missense_Mutation_p.A16S|DENND4A_uc002apj.3_Missense_Mutation_p.A16S|DENND4A_uc010ujj.1_Missense_Mutation_p.A16S NM_005848 NP_005839 Q7Z401 MYCPP_HUMAN DENN/MADD domain containing 4A isoform 2 16 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 GTTAATCCTGCTACAACAAAG 0.373 10 38 --- --- --- --- PASS DIS3L 115752 broad.mit.edu 37 15 66615210 66615210 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr15:66615210C>A uc010ujm.1 + 10 1527 c.1512C>A c.(1510-1512)CAC>CAA p.H504Q DIS3L_uc010ujl.1_Missense_Mutation_p.H134Q|DIS3L_uc002app.2_Missense_Mutation_p.H421Q|DIS3L_uc002apq.2_Missense_Mutation_p.H504Q|DIS3L_uc010bho.2_Missense_Mutation_p.H370Q NM_001143688 NP_001137160 Q8TF46 DI3L1_HUMAN DIS3 mitotic control homolog (S. 504 rRNA catabolic process cytoplasm|exosome (RNase complex) exonuclease activity|protein binding|ribonuclease activity|RNA binding ovary(2) 2 TTGGGGTCCACATCGCAGATG 0.418 18 34 --- --- --- --- PASS BBS4 585 broad.mit.edu 37 15 73023961 73023961 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr15:73023961G>T uc002avb.2 + 12 973 c.930G>T c.(928-930)TTG>TTT p.L310F BBS4_uc010ukv.1_Missense_Mutation_p.L298F|BBS4_uc002avc.2_Missense_Mutation_p.L138F|BBS4_uc002avd.2_Missense_Mutation_p.L318F|BBS4_uc010bja.2_Missense_Mutation_p.L66F NM_033028 NP_149017 Q96RK4 BBS4_HUMAN Bardet-Biedl syndrome 4 310 Interaction with PCM1.|TPR 8. adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity 0 TGTATAATTTGGGCCTTGTCC 0.488 Bardet-Biedl_syndrome 38 58 --- --- --- --- PASS SIN3A 25942 broad.mit.edu 37 15 75702220 75702220 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr15:75702220C>A uc002bai.2 - 8 1533 c.1274G>T c.(1273-1275)TGC>TTC p.C425F SIN3A_uc002baj.2_Missense_Mutation_p.C425F|SIN3A_uc010uml.1_Missense_Mutation_p.C425F NM_015477 NP_056292 Q96ST3 SIN3A_HUMAN transcriptional co-repressor Sin3A 425 Interaction with REST (By similarity). blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|Sin3 complex protein binding skin(3)|ovary(1)|lung(1) 5 GCGGATCTGGCAGCCATTCTG 0.507 6 103 --- --- --- --- PASS CSPG4 1464 broad.mit.edu 37 15 75982089 75982089 + Silent SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr15:75982089C>A uc002baw.2 - 3 1410 c.1317G>T c.(1315-1317)GTG>GTT p.V439V NM_001897 NP_001888 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 precursor 439 Extracellular (Potential).|CSPG 1.|Globular or compact configuration stabilized by disulfide bonds.|Neurite growth inhibition (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity ovary(2)|pancreas(1) 3 CCCCCTCGGCCACCACCAGTG 0.637 10 36 --- --- --- --- PASS SLC28A1 9154 broad.mit.edu 37 15 85486718 85486718 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr15:85486718G>T uc002blg.2 + 16 1826 c.1624G>T c.(1624-1626)GCC>TCC p.A542S SLC28A1_uc010bnb.2_Missense_Mutation_p.A542S|SLC28A1_uc010upe.1_Missense_Mutation_p.A376S|SLC28A1_uc010upf.1_Missense_Mutation_p.A542S|SLC28A1_uc010upg.1_Intron NM_004213 NP_004204 O00337 S28A1_HUMAN solute carrier family 28, member 1 isoform 1 542 Helical; (Potential). nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding skin(2)|ovary(1) 3 BRCA - Breast invasive adenocarcinoma(143;0.0587) CTGTGGATTTGCCAATTTCAG 0.552 6 37 --- --- --- --- PASS NTRK3 4916 broad.mit.edu 37 15 88678528 88678528 + Silent SNP C T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr15:88678528C>T uc002bme.1 - 9 1170 c.1008G>A c.(1006-1008)CTG>CTA p.L336L NTRK3_uc002bmh.2_Silent_p.L336L|NTRK3_uc002bmf.1_Silent_p.L336L|NTRK3_uc010upl.1_Silent_p.L238L|NTRK3_uc010bnh.1_Silent_p.L336L|NTRK3_uc002bmg.2_Silent_p.L336L NM_001012338 NP_001012338 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 336 Ig-like C2-type 2.|Extracellular (Potential). L -> Q (in a lung adenocarcinoma sample; somatic mutation). transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity p.L336Q(2) ETV6/NTRK3(234) soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1) 281 BRCA - Breast invasive adenocarcinoma(143;0.211) GCCCATTGTGCAGCCAGTGCA 0.607 T ETV6 congenital fibrosarcoma|Secretory breast TSP Lung(13;0.10) 13 45 --- --- --- --- PASS DET1 55070 broad.mit.edu 37 15 89074248 89074248 + Missense_Mutation SNP G A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr15:89074248G>A uc002bmr.2 - 2 841 c.689C>T c.(688-690)GCC>GTC p.A230V DET1_uc002bmp.3_RNA|DET1_uc010bnk.2_RNA|DET1_uc002bmq.2_Missense_Mutation_p.A241V NM_001144074 NP_001137546 Q7L5Y6 DET1_HUMAN de-etiolated 1 isoform 2 230 nucleus lung(1)|pancreas(1) 2 Lung NSC(78;0.105)|all_lung(78;0.182) BRCA - Breast invasive adenocarcinoma(143;0.188) AGACAAGATGGCCAGGATGTT 0.498 12 24 --- --- --- --- PASS ACAN 176 broad.mit.edu 37 15 89401694 89401694 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr15:89401694G>T uc010upo.1 + 12 6252 c.5878G>T c.(5878-5880)GGC>TGC p.G1960C ACAN_uc010upp.1_Missense_Mutation_p.G1960C|ACAN_uc002bna.2_RNA NM_013227 NP_037359 E7EX88 E7EX88_HUMAN aggrecan isoform 2 precursor 1960 cell adhesion hyaluronic acid binding|sugar binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) AGGGCCTTCTGGCATTTTAGA 0.517 5 49 --- --- --- --- PASS PRC1 9055 broad.mit.edu 37 15 91524153 91524153 + Silent SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr15:91524153G>T uc002bqm.2 - 6 940 c.783C>A c.(781-783)GCC>GCA p.A261A PRC1_uc002bqn.2_Silent_p.A261A|PRC1_uc002bqo.2_Silent_p.A261A|PRC1_uc010uqs.1_Silent_p.A220A NM_003981 NP_003972 O43663 PRC1_HUMAN protein regulator of cytokinesis 1 isoform 1 261 Potential.|Dimerization. cytokinesis|mitotic spindle elongation cytoplasm|nucleus|spindle microtubule|spindle pole protein binding ovary(1)|skin(1) 2 Lung NSC(78;0.0987)|all_lung(78;0.175) ACATAATGGTGGCCACAGCTT 0.488 18 54 --- --- --- --- PASS LRRK1 79705 broad.mit.edu 37 15 101597159 101597159 + Silent SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr15:101597159C>A uc002bwr.2 + 28 4750 c.4431C>A c.(4429-4431)TCC>TCA p.S1477S LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA|LRRK1_uc002bws.2_RNA NM_024652 NP_078928 Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 1477 Protein kinase. small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1) 12 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) AGAAGCTGTCCAAGGGCATCC 0.592 27 57 --- --- --- --- PASS TARSL2 123283 broad.mit.edu 37 15 102255120 102255120 + Silent SNP G A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr15:102255120G>A uc002bxm.2 - 4 668 c.613C>T c.(613-615)CTG>TTG p.L205L TARSL2_uc010usi.1_RNA NM_152334 NP_689547 A2RTX5 SYTC2_HUMAN threonyl-tRNA synthetase-like 2 205 threonyl-tRNA aminoacylation cytoplasm ATP binding|threonine-tRNA ligase activity ovary(2) 2 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) AGGTCCCACAGTTCACCATTG 0.443 29 62 --- --- --- --- PASS WDR90 197335 broad.mit.edu 37 16 703577 703577 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr16:703577C>A uc002cii.1 + 12 1340 c.1286C>A c.(1285-1287)GCA>GAA p.A429E WDR90_uc002cig.1_Missense_Mutation_p.A429E|WDR90_uc002cih.1_Missense_Mutation_p.A430E|WDR90_uc002cij.1_RNA|WDR90_uc002cik.1_5'Flank NM_145294 NP_660337 Q96KV7 WDR90_HUMAN WD repeat domain 90 429 WD 1. ovary(1) 1 Hepatocellular(780;0.0218) TCGGCCCAGGCAAGGGCCCCT 0.647 25 51 --- --- --- --- PASS FBXL16 146330 broad.mit.edu 37 16 745747 745747 + Silent SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr16:745747C>A uc002cjc.2 - 4 1013 c.810G>T c.(808-810)CTG>CTT p.L270L FBXL16_uc002cja.2_5'Flank|FBXL16_uc002cjb.2_Silent_p.L58L NM_153350 NP_699181 Q8N461 FXL16_HUMAN F-box and leucine-rich repeat protein 16 270 LRR 2. 0 Hepatocellular(780;0.0218) TCAGCTCCGCCAGGTTGGGCA 0.692 8 17 --- --- --- --- PASS FBXL16 146330 broad.mit.edu 37 16 747007 747007 + Missense_Mutation SNP G T T rs11555893 TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr16:747007G>T uc002cjc.2 - 3 602 c.399C>A c.(397-399)TTC>TTA p.F133L FBXL16_uc002cja.2_5'Flank|FBXL16_uc002cjb.2_5'Flank NM_153350 NP_699181 Q8N461 FXL16_HUMAN F-box and leucine-rich repeat protein 16 133 F-box. 0 Hepatocellular(780;0.0218) GGCCTGCCCAGAACTTGGGCT 0.617 11 20 --- --- --- --- PASS CCDC78 124093 broad.mit.edu 37 16 775523 775523 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr16:775523G>T uc002cjg.2 - 4 431 c.325C>A c.(325-327)CAG>AAG p.Q109K CCDC78_uc002cjf.2_5'Flank|CCDC78_uc002cji.3_Missense_Mutation_p.Q183K|CCDC78_uc002cjj.3_Intron|CCDC78_uc002cjh.2_5'UTR|CCDC78_uc010uuo.1_Missense_Mutation_p.Q109K|CCDC78_uc002cjk.2_Missense_Mutation_p.Q109K|HAGHL_uc002cjl.1_5'Flank|HAGHL_uc002cjm.1_5'Flank|HAGHL_uc002cjn.1_5'Flank|HAGHL_uc002cjo.1_5'Flank|HAGHL_uc010uup.1_5'Flank NM_001031737 NP_001026907 A2IDD5 CCD78_HUMAN coiled-coil domain containing 78 109 central_nervous_system(1) 1 Hepatocellular(780;0.0218) GCACAGCCCTGGCTGGTGCCA 0.652 14 27 --- --- --- --- PASS SOX8 30812 broad.mit.edu 37 16 1034912 1034912 + Silent SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr16:1034912G>T uc002ckn.2 + 3 982 c.867G>T c.(865-867)CTG>CTT p.L289L NM_014587 NP_055402 P57073 SOX8_HUMAN SRY (sex determining region Y)-box 8 289 adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis cytoplasm|nucleus central_nervous_system(1)|skin(1) 2 Hepatocellular(780;0.00308) ACCAGTACCTGCCCCTGGGCG 0.687 4 11 --- --- --- --- PASS CACNA1H 8912 broad.mit.edu 37 16 1250467 1250467 + Missense_Mutation SNP A C C TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr16:1250467A>C uc002cks.2 + 7 1263 c.1015A>C c.(1015-1017)AAC>CAC p.N339H CACNA1H_uc002ckt.2_Missense_Mutation_p.N339H NM_021098 NP_066921 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, 339 Extracellular (Potential).|I. aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(2) 2 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) CGCCTGCATCAACTGGAACCA 0.662 5 20 --- --- --- --- PASS TELO2 9894 broad.mit.edu 37 16 1545603 1545603 + Missense_Mutation SNP G A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr16:1545603G>A uc002cly.2 + 3 883 c.592G>A c.(592-594)GCG>ACG p.A198T TELO2_uc010uvg.1_Missense_Mutation_p.A198T NM_016111 NP_057195 Q9Y4R8 TELO2_HUMAN TEL2, telomere maintenance 2, homolog 198 chromosome, telomeric region|cytoplasm|membrane|nucleus protein binding 0 Hepatocellular(780;0.219) GGTGCTGCAGGCGGTTGTGGA 0.662 20 36 --- --- --- --- PASS ABCA3 21 broad.mit.edu 37 16 2331439 2331439 + Silent SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr16:2331439C>A uc002cpy.1 - 27 4819 c.4107G>T c.(4105-4107)CTG>CTT p.L1369L ABCA3_uc010bsk.1_Silent_p.L1311L NM_001089 NP_001080 Q99758 ABCA3_HUMAN ATP-binding cassette, sub-family A member 3 1369 response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1) 16 Ovarian(90;0.17) GACTGGGGGCCAGGATGCGGG 0.567 5 45 --- --- --- --- PASS AMDHD2 51005 broad.mit.edu 37 16 2580743 2580743 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr16:2580743G>T uc010uwc.1 + 11 1865 c.1768G>T c.(1768-1770)GGG>TGG p.G590W AMDHD2_uc010uwd.1_Missense_Mutation_p.G354W|CEMP1_uc002cqr.2_Missense_Mutation_p.P111Q NM_001145815 NP_001139287 Q9Y303 NAGA_HUMAN amidohydrolase domain containing 2 isoform 2 Error:Variant_position_missing_in_Q9Y303_after_alignment N-acetylglucosamine metabolic process N-acetylglucosamine-6-phosphate deacetylase activity skin(2)|large_intestine(1)|breast(1) 4 CCACCTGCCTGGGCAGGGCCT 0.627 12 16 --- --- --- --- PASS PRSS22 64063 broad.mit.edu 37 16 2905791 2905791 + Missense_Mutation SNP C A A rs146582104 TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr16:2905791C>A uc002cry.1 - 4 409 c.343G>T c.(343-345)GGC>TGC p.G115C PRSS22_uc002crz.1_Intron NM_022119 NP_071402 Q9GZN4 BSSP4_HUMAN protease, serine, 22 precursor 115 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity central_nervous_system(1) 1 GACCGAGAGCCAGGGTTCCCC 0.612 4 17 --- --- --- --- PASS BTBD12 84464 broad.mit.edu 37 16 3640826 3640826 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr16:3640826G>T uc002cvp.2 - 12 3440 c.2813C>A c.(2812-2814)GCA>GAA p.A938E NM_032444 NP_115820 Q8IY92 SLX4_HUMAN BTB (POZ) domain containing 12 938 Interaction with PLK1 and TERF2-TERF2IP. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding 0 TGCTCCCCGTGCCCCTGAGTG 0.662 Direct_reversal_of_damage|Homologous_recombination Fanconi_Anemia 22 69 --- --- --- --- PASS CLEC16A 23274 broad.mit.edu 37 16 11066808 11066808 + Silent SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr16:11066808C>A uc002dao.2 + 7 848 c.618C>A c.(616-618)GCC>GCA p.A206A CLEC16A_uc002dan.3_Silent_p.A204A NM_015226 NP_056041 Q2KHT3 CL16A_HUMAN C-type lectin domain family 16, member A 206 ovary(1)|central_nervous_system(1) 2 ATAACCAGGCCATGCTGCACT 0.393 6 15 --- --- --- --- PASS RUNDC2A 84127 broad.mit.edu 37 16 12146003 12146003 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr16:12146003G>T uc002dbw.1 + 8 1110 c.1048G>T c.(1048-1050)GTG>TTG p.V350L SNX29_uc002dby.3_5'Flank NM_032167 NP_115543 Q9HA26 RUN2A_HUMAN RUN domain containing 2A 350 ovary(1) 1 TGATGAAGATGTGGATGAAAA 0.448 T CIITA PMBL|Hodgkin Lymphona| 15 59 --- --- --- --- PASS OTOA 146183 broad.mit.edu 37 16 21728314 21728314 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr16:21728314G>T uc002djh.2 + 14 1576 c.1575G>T c.(1573-1575)AGG>AGT p.R525S uc002diq.3_Intron|OTOA_uc010vbj.1_Missense_Mutation_p.R446S|OTOA_uc002dji.2_Missense_Mutation_p.R201S|OTOA_uc010vbk.1_Missense_Mutation_p.R173S NM_144672 NP_653273 Q7RTW8 OTOAN_HUMAN otoancorin isoform 1 539 sensory perception of sound anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix ovary(1)|central_nervous_system(1)|skin(1) 3 GBM - Glioblastoma multiforme(48;0.0414) ATTTAAGGAGGCAACCTGGAT 0.473 30 72 --- --- --- --- PASS ERN2 10595 broad.mit.edu 37 16 23716314 23716314 + Silent SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr16:23716314C>A uc002dma.3 - 8 1057 c.888G>T c.(886-888)CTG>CTT p.L296L ERN2_uc010bxp.2_Silent_p.L296L|ERN2_uc010bxq.1_Silent_p.L104L NM_033266 NP_150296 Q76MJ5 ERN2_HUMAN endoplasmic reticulum to nucleus signalling 2 248 Lumenal (Potential). apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) TGTCTCGAGCCAGCGTGAGAT 0.667 19 34 --- --- --- --- PASS SULT1A2 6799 broad.mit.edu 37 16 28604827 28604827 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr16:28604827C>A uc002dqg.1 - 5 786 c.435G>T c.(433-435)ATG>ATT p.M145I uc010vct.1_Intron|SULT1A2_uc002dqh.1_Missense_Mutation_p.M145I NM_177528 NP_803564 P50226 ST1A2_HUMAN sulfotransferase family, cytosolic, 1A, 145 3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process cytosol aryl sulfotransferase activity|flavonol 3-sulfotransferase activity 0 ACACTTTGGCCATGTGGTAGA 0.557 15 20 --- --- --- --- PASS NFATC2IP 84901 broad.mit.edu 37 16 28965898 28965898 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr16:28965898C>A uc002dru.2 + 3 488 c.473C>A c.(472-474)GCA>GAA p.A158E uc010vct.1_Intron|NFATC2IP_uc002drt.2_Intron NM_032815 NP_116204 Q8NCF5 NF2IP_HUMAN nuclear factor of activated T-cells, 158 cytoplasm|nucleus ovary(1) 1 GCAGAGCTGGCAGATTCGAGT 0.527 44 115 --- --- --- --- PASS FAM57B 83723 broad.mit.edu 37 16 30038080 30038080 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr16:30038080G>T uc002dvt.2 - 3 632 c.294C>A c.(292-294)CAC>CAA p.H98Q uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|FAM57B_uc002dvu.2_Missense_Mutation_p.H48Q NM_031478 NP_113666 Q71RH2 FA57B_HUMAN hypothetical protein LOC83723 98 TLC. endoplasmic reticulum|integral to membrane 0 CCTGGTGCTTGTGCCAGTGAC 0.597 6 26 --- --- --- --- PASS GDPD3 79153 broad.mit.edu 37 16 30123997 30123997 + Silent SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr16:30123997C>A uc002dwp.2 - 3 379 c.300G>T c.(298-300)GTG>GTT p.V100V uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|GDPD3_uc002dwq.2_Silent_p.V38V|LOC100271831_uc010vei.1_5'Flank NM_024307 NP_077283 Q7L5L3 GDPD3_HUMAN glycerophosphodiester phosphodiesterase domain 100 Extracellular (Potential).|GDPD. glycerol metabolic process|lipid metabolic process integral to membrane glycerophosphodiester phosphodiesterase activity|metal ion binding 0 CCAGGCTGCCCACATCCCTGT 0.627 OREG0023731 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 32 --- --- --- --- PASS CD2BP2 10421 broad.mit.edu 37 16 30364605 30364605 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr16:30364605G>T uc002dxr.2 - 5 1065 c.812C>A c.(811-813)GCA>GAA p.A271E CD2BP2_uc002dxs.2_Missense_Mutation_p.A271E NM_006110 NP_006101 O95400 CD2B2_HUMAN CD2 antigen (cytoplasmic tail) binding protein 271 assembly of spliceosomal tri-snRNP cytoplasm|nucleoplasm|U5 snRNP protein binding|ribonucleoprotein binding ovary(1) 1 CCGCGACTCTGCTTCTAAAAT 0.572 11 45 --- --- --- --- PASS SEPT1 1731 broad.mit.edu 37 16 30389812 30389812 + Silent SNP C T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr16:30389812C>T uc002dxy.2 - 12 1234 c.1047G>A c.(1045-1047)AAG>AAA p.K349K SEPT1_uc002dxw.2_RNA|SEPT1_uc002dxx.2_Silent_p.K174K NM_052838 NP_443070 Q8WYJ6 SEPT1_HUMAN septin 1 349 cell cycle|cell division microtubule organizing center|septin complex GTP binding|protein binding ovary(1) 1 Colorectal(24;0.193) GGGCCTGCATCTTCTCCAGCA 0.687 3 11 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 16 33647476 33647476 + RNA SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr16:33647476G>T uc010vga.1 - 1 c.67C>A Homo sapiens IGH mRNA for immunoglobulin heavy chain VHDJ region, partial cds, clone:kh0002h. CCAGAGTCTGGACAGGACAGT 0.572 44 94 --- --- --- --- PASS PDP2 57546 broad.mit.edu 37 16 66918303 66918303 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr16:66918303G>T uc002eqk.1 + 2 278 c.116G>T c.(115-117)TGG>TTG p.W39L NM_020786 NP_065837 Q9P2J9 PDP2_HUMAN pyruvate dehydrogenase phosphatase isoenzyme 2 39 pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix|protein serine/threonine phosphatase complex [pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding ovary(1) 1 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204) AAATTAAAATGGAGGCTCTTT 0.453 34 77 --- --- --- --- PASS LRRC29 26231 broad.mit.edu 37 16 67241850 67241850 + Silent SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr16:67241850G>T uc002esd.2 - 3 1326 c.429C>A c.(427-429)GGC>GGA p.G143G LRRC29_uc002ese.2_Silent_p.G143G|LRRC29_uc002esf.2_Silent_p.G143G|LRRC29_uc002esg.2_Silent_p.G143G NM_012163 NP_036295 Q8WV35 LRC29_HUMAN F-box and leucine-rich repeat protein 9 143 F-box.|LRR 5. 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434) CCTGGGCCCAGCCCTTGTCAC 0.607 20 21 --- --- --- --- PASS GFOD2 81577 broad.mit.edu 37 16 67709359 67709359 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr16:67709359G>T uc002eub.2 - 3 1152 c.857C>A c.(856-858)GCA>GAA p.A286E GFOD2_uc002eua.1_RNA|GFOD2_uc002euc.2_Missense_Mutation_p.A181E NM_030819 NP_110446 Q3B7J2 GFOD2_HUMAN glucose-fructose oxidoreductase domain 286 proteinaceous extracellular matrix binding|oxidoreductase activity ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242) TGCGCCCACTGCCAGCGAGTC 0.652 8 30 --- --- --- --- PASS RANBP10 57610 broad.mit.edu 37 16 67760357 67760357 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr16:67760357C>A uc002eud.2 - 14 1953 c.1837G>T c.(1837-1839)GCC>TCC p.A613S RANBP10_uc010ceo.2_Missense_Mutation_p.A384S|RANBP10_uc010vju.1_Missense_Mutation_p.A587S|RANBP10_uc010vjv.1_Missense_Mutation_p.A526S NM_020850 NP_065901 Q6VN20 RBP10_HUMAN RAN binding protein 10 613 ovary(1) 1 Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157) TCAACTCTGGCAAAGGAGCAA 0.637 4 10 --- --- --- --- PASS EDC4 23644 broad.mit.edu 37 16 67917564 67917564 + Nonsense_Mutation SNP C T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr16:67917564C>T uc002eur.2 + 28 4109 c.3943C>T c.(3943-3945)CAG>TAG p.Q1315* EDC4_uc010cer.2_Nonsense_Mutation_p.Q934*|EDC4_uc002eus.2_Nonsense_Mutation_p.Q1045*|EDC4_uc002eut.1_3'UTR|NRN1L_uc002euu.2_5'Flank NM_014329 NP_055144 Q6P2E9 EDC4_HUMAN autoantigen RCD8 1315 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|nucleus protein binding ovary(2)|central_nervous_system(2) 4 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) CCCGCTCTCCCAGCCTGTGCT 0.602 OREG0023890 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 58 120 --- --- --- --- PASS ZNF821 55565 broad.mit.edu 37 16 71898838 71898838 + Missense_Mutation SNP G C C TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr16:71898838G>C uc010vmj.1 - 4 656 c.280C>G c.(280-282)CCT>GCT p.P94A ATXN1L_uc010vmi.1_Intron|ZNF821_uc002fbe.2_5'UTR|ZNF821_uc002fbf.2_Missense_Mutation_p.P52A|ZNF821_uc002fbg.3_Intron|ZNF821_uc002fbh.3_Missense_Mutation_p.P52A|ZNF821_uc002fbi.3_5'UTR NM_017530 NP_060000 O75541 ZN821_HUMAN zinc finger protein 821 94 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 CCACCAACAGGCTGTTCTGTA 0.532 5 100 --- --- --- --- PASS ZFHX3 463 broad.mit.edu 37 16 72832356 72832356 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr16:72832356C>A uc002fck.2 - 9 4898 c.4225G>T c.(4225-4227)GCC>TCC p.A1409S ZFHX3_uc002fcl.2_Missense_Mutation_p.A495S NM_006885 NP_008816 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 isoform A 1409 C2H2-type 13. muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(2)|skin(2) 4 Ovarian(137;0.13) GTCTTGAAGGCCAGGCTACAC 0.502 15 49 --- --- --- --- PASS WDR59 79726 broad.mit.edu 37 16 74937894 74937894 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr16:74937894C>A uc002fdh.1 - 18 1919 c.1817G>T c.(1816-1818)CGC>CTC p.R606L WDR59_uc002fdf.1_Missense_Mutation_p.R51L|WDR59_uc002fdg.1_Missense_Mutation_p.R198L NM_030581 NP_085058 Q6PJI9 WDR59_HUMAN WD repeat domain 59 606 ovary(1)|breast(1) 2 TTTCTCGCTGCGAGTGGGGCT 0.547 4 13 --- --- --- --- PASS CENPN 55839 broad.mit.edu 37 16 81045548 81045548 + Missense_Mutation SNP G A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr16:81045548G>A uc002ffx.2 + 2 794 c.4G>A c.(4-6)GAT>AAT p.D2N CENPN_uc002ffw.3_Missense_Mutation_p.D2N|CENPN_uc010vnl.1_Missense_Mutation_p.D2N|CENPN_uc010vnm.1_Missense_Mutation_p.D2N|CENPN_uc002ffy.3_Missense_Mutation_p.D2N NM_001100624 NP_001094094 Q96H22 CENPN_HUMAN centromere protein N isoform 2 2 CenH3-containing nucleosome assembly at centromere|mitotic prometaphase condensed chromosome kinetochore|cytosol|nucleoplasm 0 CAAAGAGATGGATGAGACTGT 0.358 18 29 --- --- --- --- PASS SDR42E1 93517 broad.mit.edu 37 16 82033639 82033639 + Silent SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr16:82033639G>T uc002fgu.2 - 3 387 c.259C>A c.(259-261)CGG>AGG p.R87R NM_145168 NP_660151 Q8WUS8 D42E1_HUMAN short chain dehydrogenase/reductase family 42E, 87 steroid biosynthetic process integral to membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding 0 AGTTGCTCCCGCCCTGACATA 0.498 24 49 --- --- --- --- PASS YWHAE 7531 broad.mit.edu 37 17 1303366 1303366 + Silent SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr17:1303366C>A uc002fsj.2 - 1 191 c.39G>T c.(37-39)CTG>CTT p.L13L YWHAE_uc002fsk.2_5'UTR|YWHAE_uc010vqh.1_RNA|YWHAE_uc010vqi.1_RNA NM_006761 NP_006752 P62258 1433E_HUMAN tyrosine 3/tryptophan 5 -monooxygenase 13 apoptosis|G2/M transition of mitotic cell cycle|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway cytosol|melanosome histone deacetylase binding|phosphoserine binding lung(2)|ovary(1) 3 OV - Ovarian serous cystadenocarcinoma(18;0.203) UCEC - Uterine corpus endometrioid carcinoma (25;0.0887) CCTGCTCGGCCAGCTTCGCCT 0.657 19 18 --- --- --- --- PASS PRPF8 10594 broad.mit.edu 37 17 1577070 1577070 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr17:1577070C>A uc002fte.2 - 22 3530 c.3416G>T c.(3415-3417)CGC>CTC p.R1139L NM_006445 NP_006436 Q6P2Q9 PRP8_HUMAN U5 snRNP-specific protein 1139 catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding lung(4)|ovary(2) 6 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) GAGGCGCATGCGGGCATCTCG 0.517 12 56 --- --- --- --- PASS DNAH2 146754 broad.mit.edu 37 17 7727540 7727540 + Missense_Mutation SNP G T T rs147571735 byFrequency TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr17:7727540G>T uc002giu.1 + 75 11594 c.11580G>T c.(11578-11580)ATG>ATT p.M3860I DNAH2_uc010cnm.1_Missense_Mutation_p.M798I NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 3860 AAA 6 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(6)|skin(6)|central_nervous_system(1) 13 all_cancers(10;4.66e-07)|Prostate(122;0.081) ACATGGGCATGGCCCAGCGCT 0.657 23 12 --- --- --- --- PASS MFSD6L 162387 broad.mit.edu 37 17 8701217 8701217 + Missense_Mutation SNP C T T rs143056359 byFrequency TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr17:8701217C>T uc002glp.1 - 1 1370 c.1222G>A c.(1222-1224)GCC>ACC p.A408T NM_152599 NP_689812 Q8IWD5 MFS6L_HUMAN major facilitator superfamily domain containing 408 Helical; (Potential). integral to membrane central_nervous_system(1) 1 AAGCTGAGGGCGACCGAGAAA 0.562 23 68 --- --- --- --- PASS FLII 2314 broad.mit.edu 37 17 18148710 18148710 + Missense_Mutation SNP C G G TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr17:18148710C>G uc002gsr.1 - 29 3684 c.3633G>C c.(3631-3633)CAG>CAC p.Q1211H FLII_uc002gsq.1_Missense_Mutation_p.Q1082H|FLII_uc010cpy.1_Missense_Mutation_p.Q1200H|FLII_uc010vxn.1_Missense_Mutation_p.Q1180H|FLII_uc010vxo.1_Missense_Mutation_p.Q1156H NM_002018 NP_002009 Q13045 FLII_HUMAN flightless I homolog 1211 Gelsolin-like 5. multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleus actin binding central_nervous_system(1)|skin(1) 2 all_neural(463;0.228) CCTGGCTAGTCTGGGTCCCCA 0.642 6 56 --- --- --- --- PASS MAPK7 5598 broad.mit.edu 37 17 19286527 19286527 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr17:19286527G>T uc002gvn.2 + 7 2820 c.2434G>T c.(2434-2436)GAC>TAC p.D812Y MAPK7_uc002gvo.2_Missense_Mutation_p.D673Y|MAPK7_uc002gvq.2_Missense_Mutation_p.D812Y|MAPK7_uc002gvp.2_Missense_Mutation_p.D812Y|uc010vyt.1_5'Flank NM_139033 NP_620602 Q13164 MK07_HUMAN mitogen-activated protein kinase 7 isoform 1 812 cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase activity|protein binding central_nervous_system(4)|lung(3)|stomach(1)|skin(1) 9 all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206) TGACCTGCCTGACCTCCAGGA 0.597 7 24 --- --- --- --- PASS ALDH3A1 218 broad.mit.edu 37 17 19648346 19648346 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr17:19648346G>T uc010cqu.2 - 1 427 c.97C>A c.(97-99)CTG>ATG p.L33M ALDH3A1_uc010vzd.1_Missense_Mutation_p.L33M|ALDH3A1_uc002gwj.2_Missense_Mutation_p.L33M|ALDH3A1_uc010cqv.2_Missense_Mutation_p.L33M|ALDH3A1_uc002gwk.2_Intron|ALDH3A1_uc002gwl.1_5'Flank NM_001135168 NP_001128640 P30838 AL3A1_HUMAN aldehyde dehydrogenase 3A1 33 cellular aldehyde metabolic process cytosol|endoplasmic reticulum alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase (NAD) activity|aldehyde dehydrogenase ovary(1)|pancreas(1) 2 all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186) Colorectal(15;0.0829) NADH(DB00157) AGGCGCTGCAGCGCCTCCAGC 0.706 4 3 --- --- --- --- PASS CPD 1362 broad.mit.edu 37 17 28758837 28758837 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr17:28758837G>T uc002hfb.1 + 8 2080 c.2065G>T c.(2065-2067)GCC>TCC p.A689S CPD_uc010wbo.1_Missense_Mutation_p.A442S|CPD_uc010wbp.1_RNA NM_001304 NP_001295 O75976 CBPD_HUMAN carboxypeptidase D precursor 689 Extracellular (Potential).|Carboxypeptidase-like 2. proteolysis integral to membrane metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding liver(1)|skin(1) 2 ACAAGGACTTGCCACATATAG 0.328 25 22 --- --- --- --- PASS NF1 4763 broad.mit.edu 37 17 29670025 29670025 + Splice_Site SNP A G G TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr17:29670025A>G uc002hgg.2 + 48 7396 c.7063_splice c.e48-2 p.S2355_splice NF1_uc002hgh.2_Splice_Site_p.S2334_splice|NF1_uc010cso.2_Splice_Site_p.S543_splice|NF1_uc010wbt.1_Splice_Site|NF1_uc010wbu.1_Splice_Site NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1) 330 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) TATCTTTAATAGAGTCCAGAG 0.368 D|Mis|N|F|S|O neurofibroma|glioma neurofibroma|glioma Neurofibromatosis_type_1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 21 16 --- --- --- --- PASS C17orf66 256957 broad.mit.edu 37 17 34190043 34190043 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr17:34190043G>T uc002hke.1 - 8 861 c.712C>A c.(712-714)CTA>ATA p.L238I C17orf66_uc010wck.1_RNA|C17orf66_uc010wcl.1_Missense_Mutation_p.L198I|C17orf66_uc010wcm.1_Missense_Mutation_p.L204I NM_152781 NP_689994 A2RTY3 CQ066_HUMAN hypothetical protein LOC256957 238 binding breast(2)|skin(1) 3 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0184) GCCATTCGTAGCCCCGTCAAA 0.498 3 62 --- --- --- --- PASS GGNBP2 79893 broad.mit.edu 37 17 34935839 34935839 + Missense_Mutation SNP A T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr17:34935839A>T uc002hnb.2 + 8 1259 c.1010A>T c.(1009-1011)AAG>ATG p.K337M GGNBP2_uc002hna.2_Missense_Mutation_p.K337M|GGNBP2_uc002hnc.1_Missense_Mutation_p.K166M NM_024835 NP_079111 Q9H3C7 GGNB2_HUMAN zinc finger protein 403 337 cell differentiation|multicellular organismal development|spermatogenesis cytoplasmic membrane-bounded vesicle ovary(2) 2 Breast(25;0.00957)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0193) GCTTTACGCAAGAGTTTTGAG 0.433 31 34 --- --- --- --- PASS MED1 5469 broad.mit.edu 37 17 37563746 37563746 + Silent SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr17:37563746C>A uc002hrv.3 - 17 4940 c.4728G>T c.(4726-4728)GTG>GTT p.V1576V MED1_uc010wee.1_Silent_p.V1404V|MED1_uc002hru.2_Intron NM_004774 NP_004765 Q15648 MED1_HUMAN mediator complex subunit 1 1576 androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter mediator complex DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 8 Ovarian(249;1.78e-06)|Lung SC(565;0.0262) Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146) UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649) CAATCAGGGCCACATCCATAA 0.423 HNSCC(31;0.082) 23 22 --- --- --- --- PASS KRT16 3868 broad.mit.edu 37 17 39768836 39768836 + Silent SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr17:39768836C>A uc002hxg.3 - 1 244 c.105G>T c.(103-105)CTG>CTT p.L35L JUP_uc010wfs.1_Intron NM_005557 NP_005548 P08779 K1C16_HUMAN keratin 16 35 Head. cell proliferation|epidermis development intermediate filament protein binding|structural constituent of cytoskeleton skin(1) 1 Breast(137;0.000307) ACCCTCCGGCCAGGACGGAGG 0.721 5 3 --- --- --- --- PASS G6PC 2538 broad.mit.edu 37 17 41063047 41063047 + Silent SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr17:41063047G>T uc002icb.1 + 5 757 c.678G>T c.(676-678)CTG>CTT p.L226L G6PC_uc010whf.1_3'UTR NM_000151 NP_000142 P35575 G6PC_HUMAN glucose-6-phosphatase, catalytic subunit 226 Helical; (Potential). gluconeogenesis|glucose homeostasis|transmembrane transport integral to endoplasmic reticulum membrane glucose-6-phosphatase activity|phosphate binding ovary(1)|breast(1)|kidney(1)|skin(1) 4 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.113) TTTATCTGCTGCTCAAGGGAC 0.498 Glycogen_Storage_Disease_type_Ia 18 19 --- --- --- --- PASS SLC4A1 6521 broad.mit.edu 37 17 42330535 42330535 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr17:42330535C>A uc002igf.3 - 17 2411 c.2262G>T c.(2260-2262)CAG>CAT p.Q754H NM_000342 NP_000333 P02730 B3AT_HUMAN solute carrier family 4, anion exchanger, member 754 Membrane (anion exchange). bicarbonate transport|cellular ion homeostasis basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(137;0.014)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.115) CTTTGACCTCCTGGATCTGGG 0.642 18 17 --- --- --- --- PASS GPATCH8 23131 broad.mit.edu 37 17 42475217 42475217 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr17:42475217G>T uc002igw.1 - 8 4292 c.4228C>A c.(4228-4230)CAG>AAG p.Q1410K GPATCH8_uc002igv.1_Missense_Mutation_p.Q1332K|GPATCH8_uc010wiz.1_Missense_Mutation_p.Q1332K NM_001002909 NP_001002909 Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 1410 intracellular nucleic acid binding|zinc ion binding ovary(2)|kidney(1)|skin(1) 4 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) AGATGGGGCTGGGGAATATGA 0.582 7 8 --- --- --- --- PASS FTSJ3 117246 broad.mit.edu 37 17 61902031 61902031 + Missense_Mutation SNP G C C TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr17:61902031G>C uc002jbz.2 - 9 961 c.883C>G c.(883-885)CAG>GAG p.Q295E FTSJ3_uc002jca.2_Missense_Mutation_p.Q295E|PSMC5_uc002jcb.2_5'Flank|PSMC5_uc010ddy.2_5'Flank|PSMC5_uc010ddz.2_5'Flank|PSMC5_uc002jcc.2_5'Flank|PSMC5_uc002jcd.2_5'Flank NM_017647 NP_060117 Q8IY81 RRMJ3_HUMAN FtsJ homolog 3 295 RNA methylation|rRNA processing nucleolus methyltransferase activity|nucleic acid binding ovary(1) 1 CTGATGTCCTGACAGCACACC 0.572 49 44 --- --- --- --- PASS TEX2 55852 broad.mit.edu 37 17 62272361 62272361 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr17:62272361C>A uc002jec.2 - 3 1912 c.1739G>T c.(1738-1740)AGA>ATA p.R580I TEX2_uc002jed.2_Missense_Mutation_p.R580I|TEX2_uc002jee.2_Missense_Mutation_p.R580I NM_018469 NP_060939 Q8IWB9 TEX2_HUMAN testis expressed sequence 2 580 signal transduction|sphingolipid metabolic process integral to membrane ovary(1) 1 BRCA - Breast invasive adenocarcinoma(8;1.33e-10) READ - Rectum adenocarcinoma(1115;0.0689) CTTTGAAAGTCTTAAGGTTCC 0.438 22 27 --- --- --- --- PASS SLC16A6 9120 broad.mit.edu 37 17 66267059 66267059 + Silent SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr17:66267059G>T uc002jgz.1 - 5 1430 c.1242C>A c.(1240-1242)GGC>GGA p.G414G ARSG_uc002jhc.2_Intron|SLC16A6_uc002jha.1_Silent_p.G414G NM_004694 NP_004685 O15403 MOT7_HUMAN solute carrier family 16, member 6 414 Cytoplasmic (Potential). integral to plasma membrane|membrane fraction monocarboxylic acid transmembrane transporter activity|symporter activity 0 all_cancers(12;1.24e-09) BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24) Pyruvic acid(DB00119) TCTTCTCAATGCCCACGACAT 0.453 6 49 --- --- --- --- PASS GPR142 350383 broad.mit.edu 37 17 72368028 72368028 + Silent SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr17:72368028G>T uc010wqy.1 + 4 678 c.678G>T c.(676-678)GTG>GTT p.V226V GPR142_uc010wqx.1_Silent_p.V138V NM_181790 NP_861455 Q7Z601 GP142_HUMAN G protein-coupled receptor 142 226 Extracellular (Potential). cell junction|cytoplasm|integral to membrane G-protein coupled receptor activity ovary(2)|central_nervous_system(1)|skin(1) 4 CCCGCCAGGTGCCCCAGGCTG 0.627 13 7 --- --- --- --- PASS RPTOR 57521 broad.mit.edu 37 17 78681766 78681766 + Silent SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr17:78681766C>A uc002jyt.1 + 4 1279 c.474C>A c.(472-474)CCC>CCA p.P158P RPTOR_uc002jys.2_Silent_p.P158P|RPTOR_uc010wuf.1_5'UTR|RPTOR_uc010wug.1_Silent_p.P158P NM_020761 NP_065812 Q8N122 RPTOR_HUMAN raptor isoform 1 158 cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade cytosol|lysosome|TORC1 complex protein complex binding lung(4)|urinary_tract(1)|ovary(1) 6 TGCCCCGGCCCACAGTCAACG 0.582 4 5 --- --- --- --- PASS THOC4 10189 broad.mit.edu 37 17 79846200 79846200 + Missense_Mutation SNP T C C TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr17:79846200T>C uc002kbu.2 - 5 703 c.697A>G c.(697-699)AGA>GGA p.R233G NM_005782 NP_005773 Q86V81 THOC4_HUMAN THO complex 4 226 Ala/Arg/Gly-rich. intronless viral mRNA export from host nucleus|mRNA 3'-end processing|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nuclear speck|transcription export complex nucleotide binding|protein binding|RNA binding 0 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) CCTCTGCCTCTTCCACGGGCG 0.627 7 10 --- --- --- --- PASS NARF 26502 broad.mit.edu 37 17 80445995 80445995 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr17:80445995C>A uc002kfg.3 + 11 1473 c.1333C>A c.(1333-1335)CAG>AAG p.Q445K NARF_uc002kff.3_Missense_Mutation_p.Q386K|NARF_uc010dit.2_Missense_Mutation_p.Q491K|NARF_uc002kfj.3_Missense_Mutation_p.Q397K|NARF_uc002kfi.3_RNA|NARF_uc002kfh.3_Missense_Mutation_p.Q491K|NARF_uc002kfk.2_RNA NM_012336 NP_036468 Q9UHQ1 NARF_HUMAN nuclear prelamin A recognition factor isoform a 445 lamin filament lamin binding skin(1) 1 Breast(20;0.00106)|all_neural(118;0.0804) OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369) GTACCAGAGCCAGGAGCGTGG 0.622 4 50 --- --- --- --- PASS ZFP161 7541 broad.mit.edu 37 18 5291962 5291962 + Missense_Mutation SNP C T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr18:5291962C>T uc002kmq.2 - 4 406 c.245G>A c.(244-246)CGT>CAT p.R82H ZFP161_uc002kmr.2_Missense_Mutation_p.R82H|ZFP161_uc010dkp.2_Missense_Mutation_p.R82H NM_003409 NP_003400 O43829 ZF161_HUMAN zinc finger protein 161 homolog 82 BTB. negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TATATCAGAACGAAGAAAATC 0.373 5 66 --- --- --- --- PASS LAMA1 284217 broad.mit.edu 37 18 6961946 6961946 + Missense_Mutation SNP C T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr18:6961946C>T uc002knm.2 - 52 7544 c.7450G>A c.(7450-7452)GAG>AAG p.E2484K LAMA1_uc002knl.2_5'UTR|LAMA1_uc010wzj.1_Missense_Mutation_p.E1960K NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 2484 axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TTTCCTACCTCCAGTAAACAG 0.378 28 76 --- --- --- --- PASS CHMP1B 57132 broad.mit.edu 37 18 11851718 11851718 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr18:11851718G>T uc002kqe.2 + 1 330 c.208G>T c.(208-210)GCG>TCG p.A70S GNAL_uc002kqc.2_Intron|GNAL_uc010dkz.2_Intron|GNAL_uc002kqd.2_Intron NM_020412 NP_065145 Q7LBR1 CHM1B_HUMAN chromatin modifying protein 1B 70 cell cycle|cell division|protein transport cytosol|late endosome membrane protein domain specific binding 0 GAGAATGAGTGCGCGAGTCGA 0.542 9 44 --- --- --- --- PASS LAMA3 3909 broad.mit.edu 37 18 21534555 21534555 + Silent SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr18:21534555C>A uc002kuq.2 + 75 10031 c.9945C>A c.(9943-9945)GTC>GTA p.V3315V LAMA3_uc002kur.2_Silent_p.V3259V|LAMA3_uc002kus.3_Silent_p.V1706V|LAMA3_uc002kut.3_Silent_p.V1650V NM_198129 NP_937762 Q16787 LAMA3_HUMAN laminin alpha 3 subunit isoform 1 3315 Laminin G-like 5. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|skin(2)|central_nervous_system(1) 11 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CTGTCCCTGTCACTGAAGCCT 0.468 15 46 --- --- --- --- PASS TAF4B 6875 broad.mit.edu 37 18 23866021 23866021 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr18:23866021C>A uc002kvu.3 + 7 1637 c.1148C>A c.(1147-1149)TCT>TAT p.S383Y TAF4B_uc002kvs.3_RNA|TAF4B_uc002kvt.3_Missense_Mutation_p.S383Y NM_005640 NP_005631 Q92750 TAF4B_HUMAN TAF4b RNA polymerase II, TATA box binding 383 transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|nucleolus|transcription factor TFIID complex DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity lung(1)|central_nervous_system(1)|skin(1) 3 all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124) Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267) ATTATTGTTTCTGGAGCAACA 0.468 20 71 --- --- --- --- PASS CDH2 1000 broad.mit.edu 37 18 25570062 25570062 + Missense_Mutation SNP T C C TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr18:25570062T>C uc002kwg.2 - 10 2056 c.1597A>G c.(1597-1599)AGA>GGA p.R533G CDH2_uc010xbn.1_Missense_Mutation_p.R502G NM_001792 NP_001783 P19022 CADH2_HUMAN cadherin 2, type 1 preproprotein 533 Extracellular (Potential).|Cadherin 4. adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding ovary(3)|lung(1) 4 ATTTCATACCTAATATTTTGC 0.363 22 63 --- --- --- --- PASS DSG1 1828 broad.mit.edu 37 18 28918392 28918392 + Nonsense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr18:28918392C>A uc002kwp.2 + 10 1592 c.1380C>A c.(1378-1380)TAC>TAA p.Y460* NM_001942 NP_001933 Q02413 DSG1_HUMAN desmoglein 1 preproprotein 460 Extracellular (Potential).|Cadherin 4. calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding skin(3)|ovary(2)|central_nervous_system(2) 7 OV - Ovarian serous cystadenocarcinoma(10;0.00559) GAGGAAAATACCAAGGAACGA 0.318 15 60 --- --- --- --- PASS DSG4 147409 broad.mit.edu 37 18 28972210 28972210 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr18:28972210G>T uc002kwq.2 + 8 1047 c.912G>T c.(910-912)TTG>TTT p.L304F DSG4_uc002kwr.2_Missense_Mutation_p.L304F NM_177986 NP_817123 Q86SJ6 DSG4_HUMAN desmoglein 4 isoform 2 preproprotein 304 Cadherin 3.|Extracellular (Potential). Missing (in LAH1). homophilic cell adhesion desmosome|integral to membrane calcium ion binding central_nervous_system(5)|ovary(3) 8 OV - Ovarian serous cystadenocarcinoma(10;0.00504) ATAACTGGTTGGCTCAATATT 0.363 17 46 --- --- --- --- PASS DSG3 1830 broad.mit.edu 37 18 29055916 29055916 + Missense_Mutation SNP G T T rs147711163 byFrequency TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr18:29055916G>T uc002kws.2 + 16 2802 c.2693G>T c.(2692-2694)TGC>TTC p.C898F DSG3_uc002kwt.2_Missense_Mutation_p.C180F NM_001944 NP_001935 P32926 DSG3_HUMAN desmoglein 3 preproprotein 898 Cytoplasmic (Potential). cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding p.C898G(1) skin(4)|ovary(3)|lung(1)|central_nervous_system(1) 9 OV - Ovarian serous cystadenocarcinoma(10;0.00504) TTTGTTAAGTGCCAGACTTTG 0.507 10 51 --- --- --- --- PASS DSG3 1830 broad.mit.edu 37 18 29056145 29056145 + Silent SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr18:29056145C>A uc002kws.2 + 16 3031 c.2922C>A c.(2920-2922)GGC>GGA p.G974G DSG3_uc002kwt.2_Silent_p.G256G NM_001944 NP_001935 P32926 DSG3_HUMAN desmoglein 3 preproprotein 974 Cytoplasmic (Potential). cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding skin(4)|ovary(3)|lung(1)|central_nervous_system(1) 9 OV - Ovarian serous cystadenocarcinoma(10;0.00504) GTGTTCCTGGCAACCTAGCTG 0.502 21 76 --- --- --- --- PASS GALNT1 2589 broad.mit.edu 37 18 33263508 33263508 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr18:33263508G>T uc010dmu.2 + 5 688 c.635G>T c.(634-636)TGT>TTT p.C212F GALNT1_uc002kyz.3_Missense_Mutation_p.C152F|GALNT1_uc002kzb.2_Missense_Mutation_p.C212F NM_020474 NP_065207 Q10472 GALT1_HUMAN polypeptide N-acetylgalactosaminyltransferase 1 212 Lumenal (Potential).|Catalytic subdomain A. protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2) 2 GATGCCCATTGTGAGTGTACA 0.443 5 27 --- --- --- --- PASS CELF4 56853 broad.mit.edu 37 18 34839189 34839189 + Nonsense_Mutation SNP G A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr18:34839189G>A uc002lae.2 - 11 1684 c.1288C>T c.(1288-1290)CAG>TAG p.Q430* CELF4_uc010dnd.1_Nonsense_Mutation_p.Q428*|CELF4_uc002lag.2_Intron|CELF4_uc002laf.2_Nonsense_Mutation_p.Q424*|CELF4_uc002lai.2_Nonsense_Mutation_p.Q414* NM_020180 NP_064565 Q9BZC1 CELF4_HUMAN bruno-like 4, RNA binding protein isoform 1 430 RRM 3. embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding ovary(2) 2 CCAAACTCCTGGGGCAGATGG 0.398 5 14 --- --- --- --- PASS DCC 1630 broad.mit.edu 37 18 50741921 50741921 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr18:50741921C>A uc002lfe.1 + 12 2452 c.1865C>A c.(1864-1866)CCA>CAA p.P622Q DCC_uc010xdr.1_Missense_Mutation_p.P470Q|DCC_uc010dpf.1_Missense_Mutation_p.P277Q NM_005215 NP_005206 P43146 DCC_HUMAN netrin receptor DCC precursor 622 Extracellular (Potential).|Fibronectin type-III 3. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 17 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) CTTTTAGTGCCAAGTGCCCCG 0.383 15 45 --- --- --- --- PASS NFATC1 4772 broad.mit.edu 37 18 77171011 77171011 + Missense_Mutation SNP G A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr18:77171011G>A uc010xfg.1 + 2 1189 c.736G>A c.(736-738)GTC>ATC p.V246I NFATC1_uc002lnc.1_Missense_Mutation_p.V246I|NFATC1_uc010xff.1_Missense_Mutation_p.V246I|NFATC1_uc002lnd.2_Missense_Mutation_p.V246I|NFATC1_uc002lne.2_Intron|NFATC1_uc010xfh.1_Missense_Mutation_p.V246I|NFATC1_uc010xfi.1_Missense_Mutation_p.V233I|NFATC1_uc010xfj.1_Intron|NFATC1_uc002lnf.2_Missense_Mutation_p.V233I|NFATC1_uc002lng.2_Missense_Mutation_p.V233I|NFATC1_uc010xfk.1_Missense_Mutation_p.V233I NM_006162 NP_006153 O95644 NFAC1_HUMAN nuclear factor of activated T-cells, cytosolic 246 3 X SP repeats.|2. intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding large_intestine(1)|ovary(1) 2 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257) CCGCGCCAGCGTCACTGAGGA 0.711 12 19 --- --- --- --- PASS AZU1 566 broad.mit.edu 37 19 828280 828280 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr19:828280C>A uc002lpz.1 + 2 125 c.109C>A c.(109-111)CAG>AAG p.Q37K NM_001700 NP_001691 P20160 CAP7_HUMAN azurocidin 1 preproprotein 37 Peptidase S1. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of MHC class II biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability azurophil granule|extracellular region heparin binding|serine-type endopeptidase activity|toxin binding pancreas(1) 1 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GAGGCCCCGCCAGTTCCCGTT 0.647 24 52 --- --- --- --- PASS ABCA7 10347 broad.mit.edu 37 19 1055129 1055129 + Silent SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr19:1055129C>A uc002lqw.3 + 30 4215 c.3984C>A c.(3982-3984)GCC>GCA p.A1328A ABCA7_uc010dsb.1_Silent_p.A1190A|ABCA7_uc002lqy.2_5'Flank NM_019112 NP_061985 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A, member 7 1328 Extracellular (By similarity). phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity pancreas(7)|ovary(1)|central_nervous_system(1) 9 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTGAAGTGGCCAAGGTCTTGG 0.657 9 20 --- --- --- --- PASS CELF5 60680 broad.mit.edu 37 19 3282474 3282474 + Silent SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr19:3282474C>A uc002lxm.2 + 8 1054 c.1017C>A c.(1015-1017)GCC>GCA p.A339A CELF5_uc002lxl.1_Silent_p.A339A|CELF5_uc010dtj.1_Silent_p.A314A|CELF5_uc010xhg.1_Silent_p.A225A|CELF5_uc002lxn.2_RNA NM_021938 NP_068757 Q8N6W0 CELF5_HUMAN bruno-like 5, RNA binding protein 339 mRNA processing cytoplasm|nucleus nucleotide binding|RNA binding ovary(2) 2 CCGTCTATGCCAATGGCCTTG 0.587 10 37 --- --- --- --- PASS TMIGD2 126259 broad.mit.edu 37 19 4298276 4298276 + Missense_Mutation SNP C G G TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr19:4298276C>G uc002lzx.1 - 2 159 c.113G>C c.(112-114)AGT>ACT p.S38T TMIGD2_uc010dtv.1_Missense_Mutation_p.S38T NM_144615 NP_653216 Q96BF3 TMIG2_HUMAN transmembrane and immunoglobulin domain 38 Extracellular (Potential).|Ig-like. integral to membrane 0 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18) GGTCGCCTGACTGCCCTGCCT 0.617 3 15 --- --- --- --- PASS UBXN6 80700 broad.mit.edu 37 19 4446553 4446553 + Silent SNP C A A rs111828265 TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr19:4446553C>A uc002man.1 - 8 960 c.864G>T c.(862-864)CTG>CTT p.L288L UBXN6_uc010dty.1_Silent_p.L192L|UBXN6_uc002mam.1_Silent_p.L235L NM_025241 NP_079517 Q9BZV1 UBXN6_HUMAN UBX domain protein 6 288 microtubule organizing center|nucleus protein binding 0 AGTCCCCAGGCAGTTCGAACT 0.692 6 27 --- --- --- --- PASS PLIN4 729359 broad.mit.edu 37 19 4512634 4512634 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr19:4512634C>A uc002mar.1 - 3 1296 c.1296G>T c.(1294-1296)TTG>TTT p.L432F PLIN4_uc010dub.1_5'Flank NM_001080400 NP_001073869 Q96Q06 PLIN4_HUMAN plasma membrane associated protein, S3-12 432 11.|27 X 33 AA approximate tandem repeat. lipid particle|plasma membrane 0 TTCCTCTGGCCAAATTCATGG 0.557 5 119 --- --- --- --- PASS VAV1 7409 broad.mit.edu 37 19 6829837 6829837 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr19:6829837C>A uc002mfu.1 + 14 1403 c.1306C>A c.(1306-1308)CGC>AGC p.R436S VAV1_uc010xjh.1_Missense_Mutation_p.R404S|VAV1_uc010dva.1_Missense_Mutation_p.R436S|VAV1_uc002mfv.1_Missense_Mutation_p.R381S NM_005428 NP_005419 P15498 VAV_HUMAN vav 1 guanine nucleotide exchange factor 436 PH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation cytosol|plasma membrane metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity lung(4)|ovary(4)|breast(3)|central_nervous_system(2)|kidney(2)|skin(1) 16 CATCTGTAAGCGCAGGGGAGA 0.532 5 68 --- --- --- --- PASS FBN3 84467 broad.mit.edu 37 19 8183899 8183899 + Missense_Mutation SNP G T T rs142033402 TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr19:8183899G>T uc002mjf.2 - 25 3240 c.3219C>A c.(3217-3219)GAC>GAA p.D1073E NM_032447 NP_115823 Q75N90 FBN3_HUMAN fibrillin 3 precursor 1073 EGF-like 14; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1) 11 TTGCACACTCGTCCACGTCTG 0.617 6 19 --- --- --- --- PASS ZNF266 10781 broad.mit.edu 37 19 9525231 9525231 + Missense_Mutation SNP T A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr19:9525231T>A uc002mll.2 - 4 636 c.370A>T c.(370-372)ACT>TCT p.T124S ZNF266_uc002mlm.2_Missense_Mutation_p.T124S|ZNF266_uc002mln.2_Missense_Mutation_p.T124S|ZNF266_uc002mlo.2_Missense_Mutation_p.T124S|ZNF266_uc010dwp.2_Missense_Mutation_p.T124S|ZNF266_uc010dwq.2_Missense_Mutation_p.T124S NM_198058 NP_932175 Q14584 ZN266_HUMAN zinc finger protein 266 124 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TGCTCTCCAGTAGAGGTTTTC 0.428 52 66 --- --- --- --- PASS ILF3 3609 broad.mit.edu 37 19 10792704 10792704 + Silent SNP C T T rs141175607 TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr19:10792704C>T uc002mpn.2 + 12 1533 c.1216C>T c.(1216-1218)CTG>TTG p.L406L ILF3_uc002mpm.2_Silent_p.L406L|ILF3_uc002mpl.2_Silent_p.L406L|ILF3_uc002mpk.2_Silent_p.L406L|ILF3_uc010xli.1_Silent_p.L4L|ILF3_uc002mpo.2_Silent_p.L406L|ILF3_uc002mpp.2_Silent_p.L227L NM_012218 NP_036350 Q12906 ILF3_HUMAN interleukin enhancer binding factor 3 isoform a 406 DRBM 1. M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleolus|ribonucleoprotein complex DNA binding|double-stranded RNA binding|protein binding|protein binding ovary(3) 3 Epithelial(33;6.86e-06)|all cancers(31;1.65e-05) TATGAATGCCCTGATGCGGTT 0.587 10 27 --- --- --- --- PASS NOTCH3 4854 broad.mit.edu 37 19 15271574 15271574 + Missense_Mutation SNP C A A rs79447691 TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr19:15271574C>A uc002nan.2 - 33 6941 c.6865G>T c.(6865-6867)GCC>TCC p.A2289S NM_000435 NP_000426 Q9UM47 NOTC3_HUMAN Notch homolog 3 precursor 2289 Cytoplasmic (Potential). Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1) 21 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) AGTGGCTGGGCAGGCAGTGCC 0.672 6 40 --- --- --- --- PASS MYO9B 4650 broad.mit.edu 37 19 17212975 17212975 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr19:17212975G>T uc010eak.2 + 2 600 c.448G>T c.(448-450)GAC>TAC p.D150Y MYO9B_uc002nfi.2_Missense_Mutation_p.D150Y|MYO9B_uc002nfj.1_Missense_Mutation_p.D150Y NM_004145 NP_004136 Q13459 MYO9B_HUMAN myosin IXB isoform 1 150 Myosin head-like. actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity breast(1) 1 GGACTTTGATGACCTGTGTAA 0.602 18 37 --- --- --- --- PASS FAM98C 147965 broad.mit.edu 37 19 38895709 38895709 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr19:38895709C>A uc002oin.1 + 4 530 c.511C>A c.(511-513)CCA>ACA p.P171T FAM98C_uc002oio.1_Missense_Mutation_p.P171T|FAM98C_uc010xtz.1_Intron NM_174905 NP_777565 Q17RN3 FA98C_HUMAN hypothetical protein LOC147965 171 skin(1) 1 all_cancers(60;3.95e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) CAGACCTGCACCAGGGACCCC 0.642 6 77 --- --- --- --- PASS RASGRP4 115727 broad.mit.edu 37 19 38911820 38911820 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr19:38911820G>T uc002oir.2 - 3 443 c.229C>A c.(229-231)CAC>AAC p.H77N RASGRP4_uc010efz.1_5'Flank|RASGRP4_uc010ega.1_5'Flank|RASGRP4_uc010xua.1_Missense_Mutation_p.H77N|RASGRP4_uc010xub.1_Missense_Mutation_p.H77N|RASGRP4_uc010xuc.1_Missense_Mutation_p.H77N|RASGRP4_uc010xud.1_Missense_Mutation_p.H77N|RASGRP4_uc010xue.1_Missense_Mutation_p.H77N|RASGRP4_uc010egb.2_Missense_Mutation_p.H77N NM_170604 NP_733749 Q8TDF6 GRP4_HUMAN RAS guanyl releasing protein 4 isoform a 77 N-terminal Ras-GEF. activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway cytoplasm|membrane fraction|plasma membrane|soluble fraction diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity pancreas(1)|lung(1)|skin(1) 3 all_cancers(60;4.21e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) TGGTCCTCGTGGCACAGGCTG 0.463 9 21 --- --- --- --- PASS LRFN1 57622 broad.mit.edu 37 19 39798893 39798893 + Missense_Mutation SNP C T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr19:39798893C>T uc002okw.2 - 2 1696 c.1696G>A c.(1696-1698)GAC>AAC p.D566N NM_020862 NP_065913 Q9P244 LRFN1_HUMAN leucine rich repeat and fibronectin type III 566 Cytoplasmic (Potential). cell junction|integral to membrane|postsynaptic density|postsynaptic membrane ovary(2) 2 all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) CGGCGGCTGTCCCCGTCGCCA 0.682 10 10 --- --- --- --- PASS SPTBN4 57731 broad.mit.edu 37 19 41040149 41040149 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr19:41040149G>T uc002ony.2 + 20 4344 c.4258G>T c.(4258-4260)GCT>TCT p.A1420S SPTBN4_uc002onx.2_Missense_Mutation_p.A1420S|SPTBN4_uc002onz.2_Missense_Mutation_p.A1420S|SPTBN4_uc010egx.2_Missense_Mutation_p.A163S|SPTBN4_uc010egy.1_Missense_Mutation_p.A96S|SPTBN4_uc002ooa.2_Missense_Mutation_p.A96S|SPTBN4_uc010egz.1_Missense_Mutation_p.A96S NM_020971 NP_066022 Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 isoform 1420 Spectrin 12. actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(1)|skin(1) 5 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) GCAGAGCTTTGCTGAGCTGGA 0.607 12 18 --- --- --- --- PASS LTBP4 8425 broad.mit.edu 37 19 41115449 41115449 + Silent SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr19:41115449C>A uc002ooh.1 + 13 1641 c.1641C>A c.(1639-1641)GGC>GGA p.G547G LTBP4_uc002oog.1_Silent_p.G510G|LTBP4_uc002ooi.1_Silent_p.G480G|LTBP4_uc002ooj.1_5'Flank|LTBP4_uc010xvo.1_5'Flank|LTBP4_uc010ehb.1_5'Flank|LTBP4_uc002ook.1_5'Flank NM_001042544 NP_001036009 Q8N2S1 LTBP4_HUMAN latent transforming growth factor beta binding 547 Pro-rich.|EGF-like 3. growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity central_nervous_system(1) 1 Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384) CCTCCTCCGGCATGTGTCAGC 0.662 7 47 --- --- --- --- PASS ZNF575 284346 broad.mit.edu 37 19 44039768 44039768 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr19:44039768G>T uc002ows.2 + 4 1195 c.667G>T c.(667-669)GGC>TGC p.G223C ZNF575_uc002owq.2_Missense_Mutation_p.G322C NM_174945 NP_777605 Q86XF7 ZN575_HUMAN zinc finger protein 575 223 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0199) CCAGGCCTTTGGCCAGAGACG 0.662 11 13 --- --- --- --- PASS ZNF296 162979 broad.mit.edu 37 19 45575836 45575836 + Missense_Mutation SNP G C C TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr19:45575836G>C uc002pao.2 - 3 508 c.451C>G c.(451-453)CGA>GGA p.R151G NM_145288 NP_660331 Q8WUU4 ZN296_HUMAN zinc finger protein 296 151 regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AGCTCCTCTCGTTCTGGTAAG 0.582 10 36 --- --- --- --- PASS GLTSCR2 29997 broad.mit.edu 37 19 48248819 48248819 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr19:48248819G>T uc002phm.2 + 1 27 c.3G>T c.(1-3)ATG>ATT p.M1I GLTSCR2_uc002phk.2_Missense_Mutation_p.M1I|GLTSCR2_uc002phl.2_Missense_Mutation_p.M1I|GLTSCR2_uc010elj.2_Missense_Mutation_p.M1I NM_015710 NP_056525 Q9NZM5 GSCR2_HUMAN glioma tumor suppressor candidate region gene 2 1 nucleolus central_nervous_system(1) 1 all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086) all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278) TTGACAAGATGGCGGCAGGAG 0.612 5 114 --- --- --- --- PASS CCDC114 93233 broad.mit.edu 37 19 48806033 48806033 + Silent SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr19:48806033G>T uc002pir.2 - 10 1730 c.1047C>A c.(1045-1047)CGC>CGA p.R349R CCDC114_uc002piq.2_Silent_p.R158R|CCDC114_uc002pio.2_Silent_p.R386R|CCDC114_uc002pis.1_Silent_p.R29R|CCDC114_uc002pit.1_Silent_p.R386R NM_144577 NP_653178 Q96M63 CC114_HUMAN coiled-coil domain containing 114 isoform 2 349 Potential. ovary(1) 1 all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143) CCTTGTCCATGCGCTGCTGCA 0.632 30 64 --- --- --- --- PASS TMEM143 55260 broad.mit.edu 37 19 48836478 48836478 + Nonstop_Mutation SNP A G G TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr19:48836478A>G uc002pix.1 - 8 1387 c.1378T>C c.(1378-1380)TGA>CGA p.*460R TMEM143_uc002piw.1_RNA|TMEM143_uc002piy.1_Nonstop_Mutation_p.*425R|TMEM143_uc010xzn.1_Nonstop_Mutation_p.*395R|TMEM143_uc010elw.1_Nonstop_Mutation_p.*360R|TMEM143_uc010xzo.1_Nonstop_Mutation_p.*250R NM_018273 NP_060743 Q96AN5 TM143_HUMAN transmembrane protein 143 460 integral to membrane|mitochondrion 0 all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157) GGTTCTACTCAGGAGATGTTA 0.562 7 22 --- --- --- --- PASS GRIN2D 2906 broad.mit.edu 37 19 48908114 48908114 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr19:48908114C>A uc002pjc.3 + 3 677 c.589C>A c.(589-591)CAC>AAC p.H197N NM_000836 NP_000827 O15399 NMDE4_HUMAN N-methyl-D-aspartate receptor subunit 2D 197 Extracellular (Potential). cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|protein binding ovary(3)|breast(3) 6 all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161) L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173) TGCCCCTGGCCACCGGGCCTT 0.642 47 121 --- --- --- --- PASS SLC6A16 28968 broad.mit.edu 37 19 49797732 49797732 + Nonsense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr19:49797732G>T uc002pmz.2 - 8 1542 c.1308C>A c.(1306-1308)TAC>TAA p.Y436* SLC6A16_uc002pna.2_Nonsense_Mutation_p.Y436* NM_014037 NP_054756 Q9GZN6 S6A16_HUMAN solute carrier family 6, member 16 436 Extracellular (Potential). integral to membrane|intracellular neurotransmitter:sodium symporter activity skin(2)|ovary(1)|kidney(1) 4 all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336) AGGTTGGGTTGTAAAGCAGGT 0.498 15 41 --- --- --- --- PASS MIR519E 574463 broad.mit.edu 37 19 54183251 54183251 + RNA SNP C T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr19:54183251C>T hsa-mir-519e|MI0003145 + c.58C>T MIR520F_hsa-mir-520f|MI0003146_5'Flank 0 AACAAAGTGCCTCCTTTTAGA 0.408 10 24 --- --- --- --- PASS LILRB5 10990 broad.mit.edu 37 19 54754789 54754789 + Missense_Mutation SNP G C C TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr19:54754789G>C uc002qex.2 - 13 1745 c.1634C>G c.(1633-1635)GCA>GGA p.A545G LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Missense_Mutation_p.H616D|LILRB5_uc002qey.2_Missense_Mutation_p.A546G|LILRB5_uc002qez.2_Missense_Mutation_p.A446G|LILRB5_uc002qfa.1_3'UTR NM_006840 NP_006831 O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, 545 Cytoplasmic (Potential). cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity ovary(1)|pancreas(1) 2 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GGCTTCAGATGCAGCAGCCTG 0.622 10 26 --- --- --- --- PASS LILRB2 10288 broad.mit.edu 37 19 54780734 54780734 + Silent SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr19:54780734G>T uc002qfb.2 - 10 1676 c.1410C>A c.(1408-1410)GTC>GTA p.V470V LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Silent_p.V470V|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Silent_p.V469V|LILRB2_uc010yet.1_Silent_p.V354V NM_005874 NP_005865 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, 470 Helical; (Potential). cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity skin(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) ggagcagtaggaCGACGGCCA 0.428 11 54 --- --- --- --- PASS LILRB4 11006 broad.mit.edu 37 19 55175367 55175367 + Nonsense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr19:55175367G>T uc002qgp.2 + 3 588 c.226G>T c.(226-228)GAG>TAG p.E76* LILRB4_uc002qgo.1_Nonsense_Mutation_p.E117*|LILRB4_uc002qgq.2_Nonsense_Mutation_p.E76*|LILRB4_uc010ers.1_5'UTR|LILRB4_uc002qgr.2_Nonsense_Mutation_p.E117*|LILRB4_uc010ert.2_Nonsense_Mutation_p.E117*|LILRB4_uc010eru.2_Nonsense_Mutation_p.E105* NM_006847 NP_006838 Q8NHJ6 LIRB4_HUMAN leukocyte immunoglobulin-like receptor, 76 Ig-like C2-type 1.|Extracellular (Potential). integral to membrane|plasma membrane antigen binding|receptor activity ovary(3) 3 GBM - Glioblastoma multiforme(193;0.035) GAACCCACTGGAGCCCAAGAA 0.572 45 127 --- --- --- --- PASS KIR3DL1 3811 broad.mit.edu 37 19 55329906 55329906 + Silent SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr19:55329906C>A uc002qhk.3 + 3 270 c.207C>A c.(205-207)CCC>CCA p.P69P KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR3DL1_uc010yfn.1_Silent_p.P11P|KIR3DL1_uc010esf.2_Intron|KIR3DL1_uc010yfo.1_Silent_p.P11P|KIR3DL1_uc002qhl.3_Silent_p.P69P NM_013289 NP_037421 P43629 KI3L1_HUMAN killer cell immunoglobulin-like receptor, three 69 Extracellular (Potential).|Ig-like C2-type 1. immune response|regulation of immune response integral to plasma membrane HLA-B specific inhibitory MHC class I receptor activity p.P69S(1) ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1) 5 GBM - Glioblastoma multiforme(193;0.0192) TCCACATTCCCATCTTCCATG 0.502 6 3 --- --- --- --- PASS ZNF667 63934 broad.mit.edu 37 19 56952734 56952734 + Silent SNP G A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr19:56952734G>A uc002qnd.2 - 5 1792 c.1630C>T c.(1630-1632)CTA>TTA p.L544L ZNF667_uc010etl.2_Silent_p.L326L|ZNF667_uc002qne.2_Silent_p.L544L|ZNF667_uc010etm.2_Silent_p.L487L NM_022103 NP_071386 Q5HYK9 ZN667_HUMAN zinc finger protein 667 544 C2H2-type 13. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0615) CTTTCATGTAGAATAAGAGAT 0.433 34 51 --- --- --- --- PASS PEG3 5178 broad.mit.edu 37 19 57328879 57328879 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr19:57328879G>T uc002qnu.2 - 7 1282 c.931C>A c.(931-933)CAC>AAC p.H311N ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.H282N|PEG3_uc002qnv.2_Missense_Mutation_p.H311N|PEG3_uc002qnw.2_Missense_Mutation_p.H187N|PEG3_uc002qnx.2_Missense_Mutation_p.H185N|PEG3_uc010etr.2_Missense_Mutation_p.H311N NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 311 SH -> PP (in Ref. 2; BAB85588). apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) ATCACTCCGTGGGAAGATTCA 0.463 25 42 --- --- --- --- PASS ZNF548 147694 broad.mit.edu 37 19 57910055 57910055 + Missense_Mutation SNP G C C TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr19:57910055G>C uc002qom.2 + 3 650 c.400G>C c.(400-402)GAT>CAT p.D134H ZNF547_uc002qpm.3_Intron|ZNF548_uc002qon.2_Missense_Mutation_p.D137H NM_152909 NP_690873 Q8NEK5 ZN548_HUMAN zinc finger protein 548 134 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TTCCAGAGGGGATGATTGGAT 0.458 19 50 --- --- --- --- PASS ZCCHC3 85364 broad.mit.edu 37 20 279139 279139 + Silent SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr20:279139G>T uc002wdf.2 + 2 933 c.909G>T c.(907-909)CTG>CTT p.L303L ZCCHC3_uc002wdg.2_RNA NM_033089 NP_149080 Q9NUD5 ZCHC3_HUMAN zinc finger, CCHC domain containing 3 304 nucleic acid binding|zinc ion binding 0 all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.149) AGATCGAGCTGCGCCAGGGGG 0.637 16 39 --- --- --- --- PASS PLCB1 23236 broad.mit.edu 37 20 8609072 8609072 + Silent SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr20:8609072G>T uc002wnb.2 + 4 381 c.378G>T c.(376-378)GTG>GTT p.V126V PLCB1_uc010zrb.1_Silent_p.V25V|PLCB1_uc010gbv.1_Silent_p.V126V|PLCB1_uc002wmz.1_Silent_p.V126V|PLCB1_uc002wna.2_Silent_p.V126V|PLCB1_uc002wnc.1_Silent_p.V25V NM_015192 NP_056007 Q9NQ66 PLCB1_HUMAN phosphoinositide-specific phospholipase C beta 1 126 activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1) 12 AAGAAGAAGTGGCCAAGGTAT 0.458 9 47 --- --- --- --- PASS BFSP1 631 broad.mit.edu 37 20 17489584 17489584 + Missense_Mutation SNP G A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr20:17489584G>A uc002wpo.2 - 5 724 c.685C>T c.(685-687)CGG>TGG p.R229W BFSP1_uc002wpp.2_Missense_Mutation_p.R104W|BFSP1_uc010zrn.1_Missense_Mutation_p.R90W|BFSP1_uc010zro.1_Missense_Mutation_p.R90W NM_001195 NP_001186 Q12934 BFSP1_HUMAN filensin isoform 1 229 Rod.|Coil 2. cytoplasm|intermediate filament|membrane structural constituent of cytoskeleton|structural constituent of eye lens central_nervous_system(1) 1 AGCACCTCCCGGCCCTCCTCC 0.642 3 11 --- --- --- --- PASS ENTPD6 955 broad.mit.edu 37 20 25194014 25194014 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr20:25194014G>T uc002wuj.2 + 5 749 c.569G>T c.(568-570)GGA>GTA p.G190V ENTPD6_uc010zsy.1_Missense_Mutation_p.G190V|ENTPD6_uc010gdj.1_Missense_Mutation_p.G162V|ENTPD6_uc010zsz.1_Intron|ENTPD6_uc002wum.2_Missense_Mutation_p.G173V|ENTPD6_uc010zta.1_Missense_Mutation_p.G190V|ENTPD6_uc002wun.2_Missense_Mutation_p.G190V|ENTPD6_uc002wuk.2_Missense_Mutation_p.G189V|ENTPD6_uc002wul.2_Missense_Mutation_p.G189V|ENTPD6_uc010ztb.1_Missense_Mutation_p.G162V|ENTPD6_uc010ztc.1_Missense_Mutation_p.G162V|ENTPD6_uc002wuo.2_5'UTR|ENTPD6_uc010ztd.1_5'UTR NM_001247 NP_001238 O75354 ENTP6_HUMAN ectonucleoside triphosphate diphosphohydrolase 6 190 Lumenal (Potential). Golgi membrane|integral to membrane nucleoside-diphosphatase activity 0 CTGTTACCTGGAGAAAAGGCC 0.552 19 44 --- --- --- --- PASS C20orf186 149954 broad.mit.edu 37 20 31671639 31671639 + Silent SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr20:31671639C>A uc010zue.1 + 3 651 c.636C>A c.(634-636)CTC>CTA p.L212L NM_182519 NP_872325 P59827 LPLC4_HUMAN antimicrobial peptide RY2G5 precursor 212 Gly-rich. cytoplasm|extracellular region lipid binding 0 TGGGCGTGCTCGGCGAGGGTG 0.637 3 31 --- --- --- --- PASS RALY 22913 broad.mit.edu 37 20 32660040 32660040 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr20:32660040C>A uc002xab.2 + 3 458 c.160C>A c.(160-162)CAC>AAC p.H54N RALY_uc010zui.1_Missense_Mutation_p.H54N|RALY_uc002xac.2_Missense_Mutation_p.H54N|RALY_uc002xad.2_RNA|RALY_uc002xae.1_Missense_Mutation_p.H54N NM_016732 NP_057951 Q9UKM9 RALY_HUMAN RNA binding protein (autoantigenic, 54 RRM. catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex nucleotide binding|RNA binding ovary(1) 1 CTGTTCTGTGCACAAGGGCTA 0.562 21 46 --- --- --- --- PASS NCOA6 23054 broad.mit.edu 37 20 33338098 33338098 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr20:33338098G>T uc002xav.2 - 10 4471 c.1900C>A c.(1900-1902)CAG>AAG p.Q634K NCOA6_uc002xaw.2_Missense_Mutation_p.Q634K NM_014071 NP_054790 Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 634 TBP/GTF2A-binding region.|NCOA1-binding region.|Gln-rich.|CREBBP-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding ovary(3)|breast(3)|central_nervous_system(1) 7 TGGACCATCTGGCCCTGGGAG 0.587 18 53 --- --- --- --- PASS CEP250 11190 broad.mit.edu 37 20 34053864 34053864 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr20:34053864G>T uc002xcm.2 + 8 998 c.327G>T c.(325-327)AGG>AGT p.R109S CEP250_uc010zve.1_5'UTR|CEP250_uc010gfe.1_RNA|CEP250_uc010zvd.1_RNA|CEP250_uc002xco.2_5'Flank NM_007186 NP_009117 Q9BV73 CP250_HUMAN centrosomal protein 2 109 Potential. centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding ovary(4)|central_nervous_system(1) 5 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) CCCAGTGCAGGTGTGAGAGTC 0.488 14 60 --- --- --- --- PASS EMILIN3 90187 broad.mit.edu 37 20 39991632 39991632 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr20:39991632G>T uc002xjy.1 - 4 801 c.577C>A c.(577-579)CTG>ATG p.L193M NM_052846 NP_443078 Q9NT22 EMIL3_HUMAN elastin microfibril interfacer 3 193 proteinaceous extracellular matrix ovary(1) 1 Myeloproliferative disorder(115;0.00425) GTTTGAGCCAGGCGCTGGACA 0.627 6 20 --- --- --- --- PASS PTPRT 11122 broad.mit.edu 37 20 40944489 40944489 + Silent SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr20:40944489G>T uc002xkg.2 - 12 2197 c.2013C>A c.(2011-2013)GCC>GCA p.A671A PTPRT_uc010ggj.2_Silent_p.A671A NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 671 Extracellular (Potential).|Fibronectin type-III 4. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) CAGGCAGGTTGGCAGGCTTCA 0.512 22 56 --- --- --- --- PASS HNF4A 3172 broad.mit.edu 37 20 43030116 43030116 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr20:43030116C>A uc002xma.2 + 1 193 c.104C>A c.(103-105)ACG>AAG p.T35K HNF4A_uc010zwo.1_Intron|HNF4A_uc002xlt.2_Intron|HNF4A_uc002xlu.2_Intron|HNF4A_uc002xlv.2_Intron|uc002xlw.1_Intron|HNF4A_uc002xly.2_Missense_Mutation_p.T35K|HNF4A_uc002xlz.2_Missense_Mutation_p.T35K|HNF4A_uc010ggq.2_5'UTR NM_000457 NP_000448 P41235 HNF4A_HUMAN hepatocyte nuclear factor 4 alpha isoform b 35 blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process cytoplasm activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding ovary(1)|lung(1)|skin(1) 3 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) CAGGTGTTGACGATGGGCAAT 0.587 15 28 --- --- --- --- PASS ZNF335 63925 broad.mit.edu 37 20 44594330 44594330 + Missense_Mutation SNP G A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr20:44594330G>A uc002xqw.2 - 7 1162 c.1039C>T c.(1039-1041)CCC>TCC p.P347S ZNF335_uc010zxk.1_Missense_Mutation_p.P192S|ZNF335_uc002xqx.1_Missense_Mutation_p.P315S NM_022095 NP_071378 Q9H4Z2 ZN335_HUMAN zinc finger protein 335 347 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(3)|ovary(1) 4 Myeloproliferative disorder(115;0.0122) CTCCTTCGGGGCCTTGGGGTA 0.662 12 24 --- --- --- --- PASS PREX1 57580 broad.mit.edu 37 20 47248919 47248919 + Silent SNP G A A rs41283546 TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr20:47248919G>A uc002xtw.1 - 35 4445 c.4422C>T c.(4420-4422)AAC>AAT p.N1474N PREX1_uc002xtv.1_Silent_p.N771N NM_020820 NP_065871 Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4, 1474 actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity lung(3)|ovary(2)|pancreas(1) 6 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) GCCCCTCCACGTTCTCCAGCA 0.667 13 87 --- --- --- --- PASS ZNFX1 57169 broad.mit.edu 37 20 47863852 47863852 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr20:47863852G>T uc002xui.2 - 14 5956 c.5709C>A c.(5707-5709)GAC>GAA p.D1903E NM_021035 NP_066363 Q9P2E3 ZNFX1_HUMAN zinc finger, NFX1-type containing 1 1903 metal ion binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) TGTTGGCCGTGTCAGACCAGG 0.517 26 39 --- --- --- --- PASS LAMA5 3911 broad.mit.edu 37 20 60885757 60885757 + Silent SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr20:60885757G>T uc002ycq.2 - 75 10477 c.10410C>A c.(10408-10410)GGC>GGA p.G3470G NM_005560 NP_005551 O15230 LAMA5_HUMAN laminin alpha 5 precursor 3470 Laminin G-like 4. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding ovary(1)|pancreas(1)|skin(1) 3 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CCGGGAGGCCGCCCACAAAGA 0.711 3 14 --- --- --- --- PASS COL9A3 1299 broad.mit.edu 37 20 61461872 61461872 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr20:61461872C>A uc002ydm.2 + 24 1222 c.1219C>A c.(1219-1221)CAG>AAG p.Q407K NM_001853 NP_001844 Q14050 CO9A3_HUMAN alpha 3 type IX collagen precursor 407 Triple-helical region 3 (COL3). axon guidance collagen type IX 0 Breast(26;5.68e-08) TCCCCAGGGCCAGAAGGGCAG 0.706 4 8 --- --- --- --- PASS EEF1A2 1917 broad.mit.edu 37 20 62120333 62120333 + Missense_Mutation SNP A G G TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr20:62120333A>G uc002yfd.1 - 6 1303 c.1202T>C c.(1201-1203)ATC>ACC p.I401T EEF1A2_uc002yfe.1_Missense_Mutation_p.I401T|EEF1A2_uc010gkg.1_Intron NM_001958 NP_001949 Q05639 EF1A2_HUMAN eukaryotic translation elongation factor 1 alpha 401 nucleus GTP binding|GTPase activity|protein binding|translation elongation factor activity 0 all_cancers(38;9.45e-12) BRCA - Breast invasive adenocarcinoma(10;1.22e-05) CATCTCCACGATGGCCGCGTC 0.637 13 30 --- --- --- --- PASS STMN3 50861 broad.mit.edu 37 20 62273640 62273640 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr20:62273640G>T uc002yfr.1 - 4 386 c.304C>A c.(304-306)CAG>AAG p.Q102K STMN3_uc011abb.1_Missense_Mutation_p.Q102K NM_015894 NP_056978 Q9NZ72 STMN3_HUMAN SCG10-like-protein 102 Potential. cytoplasmic microtubule organization|intracellular signal transduction|negative regulation of Rac protein signal transduction|neuron projection development|regulation of cytoskeleton organization|regulation of Rac GTPase activity cytoplasm protein domain specific binding 0 all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13) Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559) TTCAGCACCTGCGCCTCCTGC 0.736 4 6 --- --- --- --- PASS KRTAP13-2 337959 broad.mit.edu 37 21 31744167 31744167 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr21:31744167C>A uc002ynz.3 - 1 391 c.365G>T c.(364-366)TGT>TTT p.C122F NM_181621 NP_853652 Q52LG2 KR132_HUMAN keratin associated protein 13-2 122 intermediate filament 0 ACTGGACCCACAGCCCACTGA 0.577 11 32 --- --- --- --- PASS KRTAP19-3 337970 broad.mit.edu 37 21 31864270 31864270 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr21:31864270G>T uc002yog.1 - 1 6 c.6C>A c.(4-6)AGC>AGA p.S2R NM_181609 NP_853640 Q7Z4W3 KR193_HUMAN keratin associated protein 19-3 2 intermediate filament 0 TGCCGTAGTAGCTCATGGTGT 0.547 42 87 --- --- --- --- PASS MICAL3 57553 broad.mit.edu 37 22 18301125 18301125 + Silent SNP G A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr22:18301125G>A uc002zng.3 - 26 4655 c.4302C>T c.(4300-4302)TCC>TCT p.S1434S MICAL3_uc011agl.1_Silent_p.S1350S|MICAL3_uc010gre.1_5'Flank NM_015241 NP_056056 Q7RTP6 MICA3_HUMAN microtubule associated monoxygenase, calponin 1434 Pro-rich. cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding 0 all_epithelial(15;0.198) Lung(27;0.0427) TCATGTTGGAGGAGCTCCCGT 0.711 11 33 --- --- --- --- PASS PI4KA 5297 broad.mit.edu 37 22 21107265 21107265 + Silent SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr22:21107265C>A uc002zsz.3 - 25 2970 c.2739G>T c.(2737-2739)CTG>CTT p.L913L NM_058004 NP_477352 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase type 3 alpha 913 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1) 4 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) AGTTCACCAACAGGAACTGAG 0.507 19 111 --- --- --- --- PASS MYO18B 84700 broad.mit.edu 37 22 26164321 26164321 + Missense_Mutation SNP G C C TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr22:26164321G>C uc003abz.1 + 4 688 c.438G>C c.(436-438)AGG>AGC p.R146S MYO18B_uc003aca.1_Missense_Mutation_p.R27S|MYO18B_uc010guy.1_Missense_Mutation_p.R27S|MYO18B_uc010guz.1_Missense_Mutation_p.R27S|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_5'Flank NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN myosin XVIIIB 146 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2) 12 CCTTCAAGAGGGGCGTGAGGA 0.597 6 12 --- --- --- --- PASS THOC5 8563 broad.mit.edu 37 22 29938946 29938946 + Splice_Site SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr22:29938946C>A uc003afr.2 - 6 690 c.355_splice c.e6-1 p.A119_splice THOC5_uc003afs.2_Splice_Site_p.A119_splice|THOC5_uc003aft.2_Splice_Site_p.A119_splice|THOC5_uc003afu.2_Splice_Site_p.A119_splice|THOC5_uc010gvo.2_Splice_Site|THOC5_uc003afv.1_Splice_Site_p.A119_splice|THOC5_uc003afw.1_Intron NM_001002878 NP_001002878 Q13769 THOC5_HUMAN THO complex 5 intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex protein binding|RNA binding breast(3) 3 TCTGCTTAGCCTGAAAGGAAA 0.458 5 13 --- --- --- --- PASS CCDC157 550631 broad.mit.edu 37 22 30772728 30772728 + Silent SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr22:30772728C>A uc011aku.1 + 12 2913 c.2253C>A c.(2251-2253)CCC>CCA p.P751P CCDC157_uc011akv.1_Silent_p.P751P|uc003aho.1_5'Flank NM_001017437 NP_001017437 Q569K6 CC157_HUMAN coiled-coil domain containing 157 751 central_nervous_system(1) 1 AGGAGCGGCCCATGTAGCCTG 0.632 6 13 --- --- --- --- PASS TCN2 6948 broad.mit.edu 37 22 31008891 31008891 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr22:31008891C>A uc003aip.1 + 3 447 c.289C>A c.(289-291)CAG>AAG p.Q97K TCN2_uc003aiq.1_Missense_Mutation_p.Q93K|TCN2_uc003air.1_Missense_Mutation_p.Q97K NM_000355 NP_000346 P20062 TCO2_HUMAN transcobalamin II precursor 97 cobalamin metabolic process|cobalamin transport|cobalt ion transport extracellular space cobalamin binding central_nervous_system(1) 1 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CGGTGACTGCCAGGGCAAGCC 0.597 7 25 --- --- --- --- PASS RFPL2 10739 broad.mit.edu 37 22 32587046 32587046 + Nonsense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr22:32587046C>A uc003amg.3 - 5 1786 c.850G>T c.(850-852)GGA>TGA p.G284* RFPL2_uc003ame.3_Nonsense_Mutation_p.G223*|RFPL2_uc003amf.3_Nonsense_Mutation_p.G194*|RFPL2_uc003amh.3_Nonsense_Mutation_p.G194* NM_001098527 NP_001091997 O75678 RFPL2_HUMAN ret finger protein-like 2 isoform 2 284 B30.2/SPRY. zinc ion binding skin(1) 1 AGGCGGCCTCCATCCCTCAAA 0.552 17 44 --- --- --- --- PASS TXN2 25828 broad.mit.edu 37 22 36876629 36876629 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr22:36876629G>T uc003apk.1 - 2 333 c.256C>A c.(256-258)CAC>AAC p.H86N TXN2_uc003apl.1_RNA NM_012473 NP_036605 Q99757 THIOM_HUMAN thioredoxin 2 precursor 86 Thioredoxin. cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport mitochondrion|nucleolus electron carrier activity 0 CACTGTGCGTGGAAATCCACA 0.363 15 55 --- --- --- --- PASS TAB1 10454 broad.mit.edu 37 22 39824059 39824059 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr22:39824059C>A uc003axt.2 + 10 1227 c.1178C>A c.(1177-1179)CCA>CAA p.P393Q TAB1_uc003axr.2_Missense_Mutation_p.P469Q|TAB1_uc011aok.1_Missense_Mutation_p.P227Q|TAB1_uc003axu.1_Missense_Mutation_p.P393Q NM_006116 NP_006107 Q15750 TAB1_HUMAN mitogen-activated protein kinase kinase kinase 7 393 activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane catalytic activity|protein binding breast(1) 1 GTGTCTGTGCCATACTCCAGC 0.622 12 26 --- --- --- --- PASS RRP7A 27341 broad.mit.edu 37 22 42912112 42912112 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr22:42912112C>A uc003bcq.2 - 3 263 c.247G>T c.(247-249)GGC>TGC p.G83C SERHL_uc011apm.1_Intron|RRP7A_uc003bcp.2_Missense_Mutation_p.G106C NM_015703 NP_056518 Q9Y3A4 RRP7A_HUMAN ribosomal RNA processing 7 homolog A 83 RRM. nucleotide binding|RNA binding central_nervous_system(1)|skin(1) 2 TGGACGAGGCCACAGGTGGAC 0.612 7 12 --- --- --- --- PASS PLXNB2 23654 broad.mit.edu 37 22 50720445 50720445 + Silent SNP A C C TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr22:50720445A>C uc003bkv.3 - 20 3289 c.3183T>G c.(3181-3183)CCT>CCG p.P1061P PLXNB2_uc003bkt.1_5'UTR|PLXNB2_uc003bku.1_Silent_p.P46P NM_012401 NP_036533 O15031 PLXB2_HUMAN plexin B2 precursor 1061 IPT/TIG 3.|Extracellular (Potential). regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity ovary(4)|central_nervous_system(1)|skin(1) 6 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CTGGCTCCTCAGGCACAGCCG 0.642 7 24 --- --- --- --- PASS STS 412 broad.mit.edu 37 X 7177396 7177396 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chrX:7177396G>T uc004cry.3 + 5 649 c.404G>T c.(403-405)TGG>TTG p.W135L NM_000351 NP_000342 P08842 STS_HUMAN steryl-sulfatase precursor 135 Lumenal. female pregnancy|steroid catabolic process endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane metal ion binding|steryl-sulfatase activity central_nervous_system(1) 1 Colorectal(8;0.0136)|Medulloblastoma(8;0.184) Estrone(DB00655) TCAGGGAAATGGCACCTTGGG 0.453 Ichthyosis 19 10 --- --- --- --- PASS FANCB 2187 broad.mit.edu 37 X 14861742 14861742 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chrX:14861742C>A uc004cwg.1 - 10 2795 c.2527G>T c.(2527-2529)GCT>TCT p.A843S FANCB_uc004cwh.1_Missense_Mutation_p.A843S NM_001018113 NP_001018123 Q8NB91 FANCB_HUMAN Fanconi anemia complementation group B 843 DNA repair nucleoplasm lung(1) 1 Hepatocellular(33;0.183) TGAACCTCAGCTACTTTCAAA 0.313 Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 49 22 --- --- --- --- PASS IL1RAPL1 11141 broad.mit.edu 37 X 28807481 28807481 + Missense_Mutation SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chrX:28807481C>A uc004dby.2 + 2 529 c.21C>A c.(19-21)CAC>CAA p.H7Q NM_014271 NP_055086 Q9NZN1 IRPL1_HUMAN interleukin 1 receptor accessory protein-like 1 7 innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity ovary(3)|lung(1)|pancreas(1) 5 CGATTCCACACTTGATTCTCT 0.353 24 14 --- --- --- --- PASS VSIG4 11326 broad.mit.edu 37 X 65247899 65247899 + Silent SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chrX:65247899G>T uc004dwh.2 - 4 877 c.750C>A c.(748-750)CCC>CCA p.P250P VSIG4_uc004dwi.2_Silent_p.P156P|VSIG4_uc010nkq.1_Silent_p.P250P|VSIG4_uc004dwj.2_Silent_p.P250P|VSIG4_uc011moy.1_Silent_p.P156P|VSIG4_uc004dwk.2_Silent_p.P250P|VSIG4_uc004dwl.2_Silent_p.P146P NM_007268 NP_009199 Q9Y279 VSIG4_HUMAN V-set and immunoglobulin domain containing 4 250 Extracellular (Potential). complement activation, alternative pathway integral to membrane protein binding 0 CACCTTTCAAGGGGTATGTCA 0.463 15 12 --- --- --- --- PASS ODZ1 10178 broad.mit.edu 37 X 123654528 123654528 + Nonsense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chrX:123654528G>T uc004euj.2 - 18 3204 c.3140C>A c.(3139-3141)TCA>TAA p.S1047* ODZ1_uc011muj.1_Nonsense_Mutation_p.S1046*|ODZ1_uc010nqy.2_Nonsense_Mutation_p.S1047* NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 1047 Extracellular (Potential). immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 23 AGGAATCGTTGAATGTGTCAG 0.502 42 12 --- --- --- --- PASS BCORL1 63035 broad.mit.edu 37 X 129139248 129139248 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chrX:129139248G>T uc004evb.1 + 2 155 c.41G>T c.(40-42)TGG>TTG p.W14L NM_021946 NP_068765 Q5H9F3 BCORL_HUMAN BCL6 co-repressor-like 1 14 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ovary(4)|breast(2)|lung(1) 7 GTGCACAACTGGACCAGTTCT 0.592 43 32 --- --- --- --- PASS MAGEC2 51438 broad.mit.edu 37 X 141291533 141291533 + Missense_Mutation SNP C T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chrX:141291533C>T uc004fbu.1 - 3 589 c.241G>A c.(241-243)GAG>AAG p.E81K NM_016249 NP_057333 Q9UBF1 MAGC2_HUMAN melanoma antigen family C, 2 81 cytoplasm|nucleus breast(2) 2 Acute lymphoblastic leukemia(192;6.56e-05) GGAATGCTCTCGGTAAGATTT 0.388 HNSCC(46;0.14) 6 24 --- --- --- --- PASS RPL10 6134 broad.mit.edu 37 X 153627841 153627841 + Silent SNP C A A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chrX:153627841C>A uc004fkm.2 + 4 284 c.96C>A c.(94-96)CGC>CGA p.R32R uc010nuv.1_5'Flank|RPL10_uc004fko.2_Silent_p.R32R|RPL10_uc004fkn.1_Silent_p.R32R|RPL10_uc004fkp.1_Silent_p.R32R|RPL10_uc004fkq.1_RNA|RPL10_uc004fkr.1_5'Flank|SNORA70_uc010nux.1_5'Flank NM_006013 NP_006004 P27635 RL10_HUMAN ribosomal protein L10 32 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|endoplasmic reticulum structural constituent of ribosome 0 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CCAAGATTCGCATTTTTGACC 0.527 OREG0019957 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 71 --- --- --- --- PASS GAB3 139716 broad.mit.edu 37 X 153940624 153940624 + Missense_Mutation SNP G T T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chrX:153940624G>T uc004fmj.1 - 4 994 c.946C>A c.(946-948)CAT>AAT p.H316N GAB3_uc004fmk.1_Missense_Mutation_p.H317N|GAB3_uc010nve.1_Missense_Mutation_p.H317N|GAB3_uc004fml.1_Intron NM_080612 NP_542179 Q8WWW8 GAB3_HUMAN Gab3 protein isoform 2 316 ovary(1) 1 all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|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) TCAGACAGATGGCTTGGCTTA 0.498 36 26 --- --- --- --- PASS VPS13D 55187 broad.mit.edu 37 1 12405431 12405432 + Frame_Shift_Del DEL AC - - TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr1:12405431_12405432delAC uc001atv.2 + 43 9027_9028 c.8886_8887delAC c.(8884-8889)AGACACfs p.R2962fs VPS13D_uc001atw.2_Frame_Shift_Del_p.R2937fs|VPS13D_uc001atx.2_Frame_Shift_Del_p.R2149fs NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13D isoform 1 2961_2962 protein localization ovary(4)|pancreas(1) 5 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) TGCCTGACAGACACACCCATGA 0.426 61 35 --- --- --- --- Unknown 0 broad.mit.edu 37 1 243251423 243251423 + RNA DEL A - - TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr1:243251423delA uc001hzq.1 - 8 c.1209delT Homo sapiens cDNA FLJ52610 complete cds. actccatctcaaaaaaaaaaa 0.179 4 2 --- --- --- --- RHPN1 114822 broad.mit.edu 37 8 144457734 144457745 + In_Frame_Del DEL CCTGACGCAGAT - - TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr8:144457734_144457745delCCTGACGCAGAT uc003yyb.2 + 2 205_216 c.72_83delCCTGACGCAGAT c.(70-84)TCCCTGACGCAGATC>TCC p.LTQI25del NM_052924 NP_443156 Q8TCX5 RHPN1_HUMAN rhophilin 1 25_28 signal transduction intracellular large_intestine(1) 1 all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156) GCTGTGACTCCCTGACGCAGATCCAGTGCGGC 0.665 6 3 --- --- --- --- Unknown 0 broad.mit.edu 37 9 69440235 69440236 + Frame_Shift_Ins INS - TA TA TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx be780766-483f-42f5-b0d0-11d23a940156 fccb5ef4-79d7-46c5-9c4e-b060fe9dee96 g.chr9:69440235_69440236insTA uc010mnx.1 + 3 488_489 c.319_320insTA c.(319-321)CTAfs p.L107fs NM_001098806 NP_001092276 coiled-coil domain containing 29 AATTAGTAAACTACAAGAATAT 0.292 32 21 --- --- --- ---