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 C1orf159 54991 broad.mit.edu 37 1 1021391 1021391 + Silent SNP C A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr1:1021391C>A uc001act.2 - 9 906 c.420G>T c.(418-420)GGG>GGT p.G140G C1orf159_uc001acu.2_Silent_p.G104G|C1orf159_uc001acr.2_RNA|C1orf159_uc001acs.2_RNA|C1orf159_uc010nyd.1_RNA|C1orf159_uc001acm.2_Silent_p.G104G|C1orf159_uc009vju.1_Missense_Mutation_p.W82C|C1orf159_uc001acn.2_Silent_p.G104G|C1orf159_uc001acp.2_Silent_p.G104G NM_017891 NP_060361 Q96HA4 CA159_HUMAN hypothetical protein LOC54991 140 integral to membrane 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205) CGCGCGGAGCCCCTGCAAACA 0.662 4 33 --- --- --- --- PASS LRRC47 57470 broad.mit.edu 37 1 3703673 3703673 + Missense_Mutation SNP C T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr1:3703673C>T uc001akx.1 - 2 845 c.817G>A c.(817-819)GAG>AAG p.E273K NM_020710 NP_065761 Q8N1G4 LRC47_HUMAN leucine rich repeat containing 47 273 translation phenylalanine-tRNA ligase activity|RNA binding large_intestine(1)|ovary(1) 2 all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21) all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127) Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124) tccGAGCCCTCGGCACGGCCC 0.408 6 61 --- --- --- --- PASS NPPB 4879 broad.mit.edu 37 1 11918371 11918371 + Nonsense_Mutation SNP G T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr1:11918371G>T uc001atj.2 - 2 390 c.288C>A c.(286-288)TAC>TAA p.Y96* NM_002521 NP_002512 P16860 ANFB_HUMAN natriuretic peptide precursor B preproprotein 96 body fluid secretion|cGMP biosynthetic process|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 extracellular space diuretic hormone activity ovary(2) 2 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) Carvedilol(DB01136)|Nesiritide(DB04899)|Testosterone(DB00624) CCCGCAGGGTGTAGAGGACCA 0.652 15 57 --- --- --- --- PASS CSMD2 114784 broad.mit.edu 37 1 34312521 34312521 + Missense_Mutation SNP T A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr1:34312521T>A uc001bxn.1 - 6 906 c.877A>T c.(877-879)AAC>TAC p.N293Y CSMD2_uc001bxm.1_Missense_Mutation_p.N333Y NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 293 CUB 2.|Extracellular (Potential). integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TGCCGGTGGTTGCCATCCGAT 0.612 15 51 --- --- --- --- PASS ZMYM6 9204 broad.mit.edu 37 1 35469607 35469607 + Splice_Site SNP C A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr1:35469607C>A uc001byh.2 - 14 2183 c.1955_splice c.e14-1 p.G652_splice ZMYM6_uc001byf.1_Splice_Site_p.G652_splice|ZMYM6_uc010oht.1_Splice_Site_p.G555_splice|ZMYM6_uc009vup.2_Splice_Site_p.G458_splice|ZMYM6_uc009vuq.1_Splice_Site_p.G652_splice NM_007167 NP_009098 O95789 ZMYM6_HUMAN zinc finger protein 258 multicellular organismal development nucleus DNA binding|zinc ion binding ovary(3) 3 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13) GTAACTGCACCTGTTGTAAAT 0.323 5 44 --- --- --- --- PASS EFCAB7 84455 broad.mit.edu 37 1 64011719 64011719 + Missense_Mutation SNP C G G TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr1:64011719C>G uc001dbf.2 + 7 1231 c.937C>G c.(937-939)CAA>GAA p.Q313E DLEU2L_uc001dbg.1_5'Flank NM_032437 NP_115813 A8K855 EFCB7_HUMAN EF-hand calcium binding domain 7 313 calcium ion binding 0 AAACCTGAGTCAAGTTGAAGG 0.338 5 75 --- --- --- --- PASS LRRC7 57554 broad.mit.edu 37 1 70482199 70482199 + Missense_Mutation SNP G T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr1:70482199G>T uc001dep.2 + 12 1218 c.1188G>T c.(1186-1188)TTG>TTT p.L396F LRRC7_uc009wbg.2_5'UTR NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 396 LRR 17. centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 TTGCAGCTTTGTGGCTTTCTG 0.294 5 62 --- --- --- --- PASS LRRIQ3 127255 broad.mit.edu 37 1 74507325 74507325 + Silent SNP T C C TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr1:74507325T>C uc001dfy.3 - 7 1482 c.1290A>G c.(1288-1290)CAA>CAG p.Q430Q LRRIQ3_uc001dfz.3_Intron NM_001105659 NP_001099129 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 430 ovary(2) 2 CCTGCTTCTTTTGTTCTGTGT 0.368 4 113 --- --- --- --- PASS CRYZ 1429 broad.mit.edu 37 1 75175781 75175781 + Splice_Site SNP C A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr1:75175781C>A uc001dgk.2 - 7 1135 c.630_splice c.e7+1 p.K210_splice CRYZ_uc001dgj.2_Splice_Site_p.K210_splice|CRYZ_uc001dgl.2_Splice_Site_p.K210_splice|CRYZ_uc001dgm.2_Splice_Site_p.K73_splice NM_001130042 NP_001123514 Q08257 QOR_HUMAN crystallin, zeta isoform a protein homotetramerization|visual perception|xenobiotic catabolic process cytosol|Golgi apparatus mRNA 3'-UTR binding|NADPH binding|NADPH:quinone reductase activity|zinc ion binding 0 Dicumarol(DB00266) GAAAATTTTACCTTAATTTTA 0.353 3 32 --- --- --- --- PASS USP33 23032 broad.mit.edu 37 1 78183552 78183552 + Missense_Mutation SNP T C C TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr1:78183552T>C uc001dht.2 - 18 2358 c.2011A>G c.(2011-2013)AGT>GGT p.S671G USP33_uc001dhs.2_Missense_Mutation_p.S392G|USP33_uc001dhu.2_Missense_Mutation_p.S640G|USP33_uc001dhv.2_Missense_Mutation_p.S476G|USP33_uc001dhw.2_Missense_Mutation_p.S663G NM_015017 NP_055832 Q8TEY7 UBP33_HUMAN ubiquitin specific protease 33 isoform 1 671 axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm|VCB complex cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding lung(2)|ovary(1) 3 ATATACTTACTACTTGCAGTT 0.269 11 98 --- --- --- --- PASS NGF 4803 broad.mit.edu 37 1 115829224 115829224 + Missense_Mutation SNP C G G TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr1:115829224C>G uc001efu.1 - 3 362 c.193G>C c.(193-195)GGG>CGG p.G65R NM_002506 NP_002497 P01138 NGF_HUMAN nerve growth factor, beta polypeptide precursor 65 activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|Golgi lumen growth factor activity|nerve growth factor receptor binding upper_aerodigestive_tract(2) 2 Lung SC(450;0.211) all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179) Clenbuterol(DB01407) CGGGTCTGCCCCGCCACGCGT 0.632 11 39 --- --- --- --- PASS HSD3B1 3283 broad.mit.edu 37 1 120057197 120057197 + Missense_Mutation SNP C A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr1:120057197C>A uc001ehv.1 + 4 1196 c.1051C>A c.(1051-1053)CAG>AAG p.Q351K HSD3B1_uc001ehw.2_Missense_Mutation_p.Q353K NM_000862 NP_000853 P14060 3BHS1_HUMAN 3 beta-hydroxysteroid dehydrogenase 1 351 androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity ovary(2) 2 all_neural(166;0.219) all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624) Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554) NADH(DB00157)|Trilostane(DB01108) GGAAGCCAAGCAGAAAACGGT 0.498 13 42 --- --- --- --- PASS LCE1B 353132 broad.mit.edu 37 1 152784937 152784937 + Missense_Mutation SNP G T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr1:152784937G>T uc001faq.2 + 1 491 c.15G>T c.(13-15)CAG>CAT p.Q5H NM_178349 NP_848126 Q5T7P3 LCE1B_HUMAN late cornified envelope 1B 5 keratinization 0 Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) CCTGCCAGCAGAACCAGCAGC 0.478 20 124 --- --- --- --- PASS BCAN 63827 broad.mit.edu 37 1 156617423 156617423 + Missense_Mutation SNP T A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr1:156617423T>A uc001fpp.2 + 4 926 c.590T>A c.(589-591)CTT>CAT p.L197H BCAN_uc001fpo.2_Missense_Mutation_p.L197H NM_021948 NP_068767 Q96GW7 PGCB_HUMAN brevican isoform 1 197 Link 1. cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding ovary(1)|pancreas(1) 2 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GCCGCCTACCTTGGGGGCTAT 0.637 13 168 --- --- --- --- PASS NTRK1 4914 broad.mit.edu 37 1 156841432 156841432 + Silent SNP A G G TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr1:156841432A>G uc001fqh.1 + 7 791 c.735A>G c.(733-735)CCA>CCG p.P245P NTRK1_uc001fqf.1_Silent_p.P215P|NTRK1_uc009wsi.1_Intron|NTRK1_uc001fqi.1_Silent_p.P245P|NTRK1_uc009wsk.1_Silent_p.P245P NM_002529 NP_002520 P04629 NTRK1_HUMAN neurotrophic tyrosine kinase, receptor, type 1 245 Ig-like C2-type 1.|Extracellular (Potential). activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(9)|ovary(6)|stomach(1)|central_nervous_system(1) 17 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) Imatinib(DB00619) GGGGTCTGCCATCCCTGGGGC 0.582 T TPM3|TPR|TFG papillary thyroid TSP Lung(10;0.080) 12 84 --- --- --- --- PASS OR6K2 81448 broad.mit.edu 37 1 158669530 158669530 + Missense_Mutation SNP G T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr1:158669530G>T uc001fsu.1 - 1 913 c.913C>A c.(913-915)CAC>AAC p.H305N NM_001005279 NP_001005279 Q8NGY2 OR6K2_HUMAN olfactory receptor, family 6, subfamily K, 305 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 all_hematologic(112;0.0378) TGACCTATGTGCTTTTTTATA 0.383 15 36 --- --- --- --- PASS MNDA 4332 broad.mit.edu 37 1 158812004 158812004 + Missense_Mutation SNP C T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr1:158812004C>T uc001fsz.1 + 2 261 c.61C>T c.(61-63)CAT>TAT p.H21Y NM_002432 NP_002423 P41218 MNDA_HUMAN myeloid cell nuclear differentiation antigen 21 DAPIN. B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus DNA binding ovary(2)|skin(2) 4 all_hematologic(112;0.0378) GGATGATTATCATTTTACATC 0.313 4 46 --- --- --- --- PASS RGS5 8490 broad.mit.edu 37 1 163138098 163138098 + Silent SNP G A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr1:163138098G>A uc001gcn.2 - 2 352 c.105C>T c.(103-105)GAC>GAT p.D35D RGS5_uc009wvb.2_Intron NM_003617 NP_003608 O15539 RGS5_HUMAN regulator of G-protein signalling 5 35 negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|plasma membrane GTPase activator activity|signal transducer activity 0 LUSC - Lung squamous cell carcinoma(543;0.187) GAATGACAAGGTCACCAACTG 0.468 29 125 --- --- --- --- PASS DUSP27 92235 broad.mit.edu 37 1 167096912 167096912 + Missense_Mutation SNP G T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr1:167096912G>T uc001geb.1 + 5 2544 c.2544G>T c.(2542-2544)AGG>AGT p.R848S NM_001080426 NP_001073895 Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 848 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity ovary(3) 3 TGGAGCTTAGGGAGAAGATGT 0.498 5 79 --- --- --- --- PASS DUSP27 92235 broad.mit.edu 37 1 167097009 167097009 + Missense_Mutation SNP G T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr1:167097009G>T uc001geb.1 + 5 2641 c.2641G>T c.(2641-2643)GGT>TGT p.G881C NM_001080426 NP_001073895 Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 881 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity ovary(3) 3 TGAGGATGATGGTGTGGGTGA 0.488 7 57 --- --- --- --- PASS CACYBP 27101 broad.mit.edu 37 1 174976282 174976282 + Missense_Mutation SNP G A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr1:174976282G>A uc001gkj.1 + 4 806 c.381G>A c.(379-381)ATG>ATA p.M127I CACYBP_uc001gki.1_Missense_Mutation_p.M84I NM_014412 NP_055227 Q9HB71 CYBP_HUMAN calcyclin binding protein isoform 1 127 Interaction with SKP1.|CS. beta-catenin destruction complex protein homodimerization activity 0 GTTACTCCATGATTGTGAACA 0.353 9 64 --- --- --- --- PASS TNN 63923 broad.mit.edu 37 1 175049335 175049335 + Missense_Mutation SNP C A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr1:175049335C>A uc001gkl.1 + 4 934 c.821C>A c.(820-822)ACG>AAG p.T274K TNN_uc010pmx.1_Missense_Mutation_p.T274K NM_022093 NP_071376 Q9UQP3 TENN_HUMAN tenascin N precursor 274 Fibronectin type-III 1. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix large_intestine(5)|ovary(3)|central_nervous_system(1) 9 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) CTCAAGAACACGGAGGATTCT 0.612 10 102 --- --- --- --- PASS TNR 7143 broad.mit.edu 37 1 175293589 175293589 + Missense_Mutation SNP A T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr1:175293589A>T uc001gkp.1 - 20 3941 c.3860T>A c.(3859-3861)GTG>GAG p.V1287E TNR_uc009wwu.1_Missense_Mutation_p.V1287E NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 1287 Fibrinogen C-terminal. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) ACAGTTAGTCACTGCAACATC 0.502 7 92 --- --- --- --- PASS PAPPA2 60676 broad.mit.edu 37 1 176564697 176564697 + Missense_Mutation SNP C A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr1:176564697C>A uc001gkz.2 + 3 3121 c.1957C>A c.(1957-1959)CGC>AGC p.R653S PAPPA2_uc001gky.1_Missense_Mutation_p.R653S|PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 653 Metalloprotease. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 GGCTGATGTGCGCAAGACCTG 0.527 7 55 --- --- --- --- PASS TMCC2 9911 broad.mit.edu 37 1 205238663 205238663 + Silent SNP C T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr1:205238663C>T uc001hbz.1 + 4 1777 c.1333C>T c.(1333-1335)CTG>TTG p.L445L TMCC2_uc010prf.1_Silent_p.L367L|TMCC2_uc001hca.2_Silent_p.L220L|TMCC2_uc001hcb.1_Silent_p.L205L|TMCC2_uc001hcc.1_Silent_p.L66L|TMCC2_uc001hcd.2_Silent_p.L212L NM_014858 NP_055673 O75069 TMCC2_HUMAN transmembrane and coiled-coil domain family 2 445 integral to membrane protein binding pancreas(1) 1 Breast(84;0.0871) BRCA - Breast invasive adenocarcinoma(75;0.117) CATCGCCCACCTGAAGGACCC 0.642 24 104 --- --- --- --- PASS CR1 1378 broad.mit.edu 37 1 207789970 207789970 + Missense_Mutation SNP A G G TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr1:207789970A>G uc001hfy.2 + 33 5502 c.5362A>G c.(5362-5364)ACT>GCT p.T1788A CR1_uc001hfx.2_Missense_Mutation_p.T2238A NM_000573 NP_000564 P17927 CR1_HUMAN complement receptor 1 isoform F precursor 1788 Sushi 28.|Extracellular (Potential). complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity ovary(3) 3 ACACACAGGAACTCCCTTTGG 0.418 12 131 --- --- --- --- PASS HSD11B1 3290 broad.mit.edu 37 1 209907664 209907664 + Missense_Mutation SNP C A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr1:209907664C>A uc001hhj.2 + 7 784 c.677C>A c.(676-678)GCA>GAA p.A226E HSD11B1_uc001hhk.2_Missense_Mutation_p.A226E NM_181755 NP_861420 P28845 DHI1_HUMAN 11-beta-hydroxysteroid dehydrogenase 1 226 Lumenal (Potential). glucocorticoid biosynthetic process endoplasmic reticulum membrane|integral to membrane 11-beta-hydroxysteroid dehydrogenase (NADP+) activity|11-beta-hydroxysteroid dehydrogenase|binding breast(1) 1 OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115) NADH(DB00157) GCCATGAAGGCAGTTTCTGGG 0.478 6 30 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 215824045 215824045 + Missense_Mutation SNP A T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr1:215824045A>T uc001hku.1 - 65 14619 c.14232T>A c.(14230-14232)CAT>CAA p.H4744Q NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 4744 Fibronectin type-III 33.|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) AAGAGATCACATGGAACGTGG 0.597 HNSCC(13;0.011) 25 274 --- --- --- --- PASS ARF1 375 broad.mit.edu 37 1 228285621 228285621 + Silent SNP G A A rs146827674 TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr1:228285621G>A uc001hrr.2 + 5 681 c.453G>A c.(451-453)AGG>AGA p.R151R ARF1_uc001hrs.2_Silent_p.R151R|ARF1_uc001hrt.2_Missense_Mutation_p.E73K|ARF1_uc009xev.2_RNA|ARF1_uc001hru.2_Silent_p.R151R|ARF1_uc001hrv.2_Silent_p.R151R|ARF1_uc001hrw.2_Silent_p.R151R NM_001024226 NP_001019397 P84077 ARF1_HUMAN ADP-ribosylation factor 1 151 cellular copper ion homeostasis|COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|protein transport|regulation of defense response to virus by virus|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction|viral reproduction cytosol|Golgi membrane|perinuclear region of cytoplasm|plasma membrane GTP binding|GTPase activity|protein binding|receptor signaling protein activity 0 Prostate(94;0.0405) TACGCCACAGGAACTGGTACA 0.617 8 78 --- --- --- --- PASS NUP133 55746 broad.mit.edu 37 1 229635458 229635458 + Silent SNP C T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr1:229635458C>T uc001htn.2 - 5 713 c.621G>A c.(619-621)AAG>AAA p.K207K NM_018230 NP_060700 Q8WUM0 NU133_HUMAN nucleoporin 133kDa 207 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding breast(4)|skin(2)|ovary(1) 7 Breast(184;0.104)|Ovarian(103;0.249) Prostate(94;0.167) AACTGTAAGTCTTATCACCTC 0.403 8 81 --- --- --- --- PASS SIPA1L2 57568 broad.mit.edu 37 1 232574961 232574961 + Silent SNP G A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr1:232574961G>A uc001hvg.2 - 13 4082 c.3924C>T c.(3922-3924)GAC>GAT p.D1308D SIPA1L2_uc001hvf.2_Silent_p.D382D NM_020808 NP_065859 Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 1308 D -> V (in Ref. 2; BAB14273). regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1) 6 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) TGGCTGGCTCGTCGTCAGGCC 0.637 5 82 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237801698 237801698 + Missense_Mutation SNP G T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr1:237801698G>T uc001hyl.1 + 45 6954 c.6834G>T c.(6832-6834)CAG>CAT p.Q2278H NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 2278 Cytoplasmic (By similarity).|4 X approximate repeats. 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) AAAGTTGCCAGATGCTGGTGT 0.423 31 141 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237806707 237806707 + Silent SNP C A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr1:237806707C>A uc001hyl.1 + 48 7422 c.7302C>A c.(7300-7302)GGC>GGA p.G2434G NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 2434 Cytoplasmic (By similarity).|4 X approximate repeats. 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) ATTTGGTGGGCGTTATCAGCA 0.428 8 113 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237863674 237863674 + Missense_Mutation SNP C A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr1:237863674C>A uc001hyl.1 + 65 9394 c.9274C>A c.(9274-9276)CAG>AAG p.Q3092K RYR2_uc010pxz.1_Missense_Mutation_p.Q47K NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 3092 Helical; Name=M'; (Potential). 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) AGGGGTTACTCAGATTATCAA 0.473 5 11 --- --- --- --- PASS TRIM58 25893 broad.mit.edu 37 1 248023988 248023988 + Missense_Mutation SNP G T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr1:248023988G>T uc001ido.2 + 2 538 c.490G>T c.(490-492)GTG>TTG p.V164L NM_015431 NP_056246 Q8NG06 TRI58_HUMAN tripartite motif-containing 58 164 intracellular zinc ion binding skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1) 7 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0286) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GGAGGCCAACGTGGGGAAAAA 0.478 7 66 --- --- --- --- PASS OR2L13 284521 broad.mit.edu 37 1 248262938 248262938 + Silent SNP C A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr1:248262938C>A uc001ids.2 + 3 598 c.261C>A c.(259-261)GGC>GGA p.G87G NM_175911 NP_787107 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, 87 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding central_nervous_system(2)|ovary(1)|skin(1) 4 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0132) TCCTGTCCGGCCAGAAAGGCA 0.542 21 223 --- --- --- --- PASS OR2T29 343563 broad.mit.edu 37 1 248722750 248722750 + Missense_Mutation SNP C G G TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr1:248722750C>G uc001ieo.1 - 1 25 c.25G>C c.(25-27)GAT>CAT p.D9H NM_001004694 NP_001004694 Q8NH02 O2T29_HUMAN olfactory receptor, family 2, subfamily T, 15 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 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) AGGATGAAATCCAACCTTCCA 0.488 4 63 --- --- --- --- PASS MYT1L 23040 broad.mit.edu 37 2 1921047 1921047 + Silent SNP G A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr2:1921047G>A uc002qxe.2 - 11 2375 c.1548C>T c.(1546-1548)CAC>CAT p.H516H MYT1L_uc002qxd.2_Silent_p.H514H|MYT1L_uc010ewl.1_RNA NM_015025 NP_055840 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 516 C2HC-type 2. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|central_nervous_system(1) 6 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) GCCCAGTTACGTGGCCGGTTC 0.537 14 232 --- --- --- --- PASS GPN1 11321 broad.mit.edu 37 2 27858012 27858012 + Silent SNP C T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr2:27858012C>T uc010ymc.1 + 7 498 c.477C>T c.(475-477)TCC>TCT p.S159S ZNF512_uc010yly.1_RNA|GPN1_uc010ezf.2_Silent_p.S133S|GPN1_uc010yma.1_Silent_p.S66S|GPN1_uc010ymb.1_Silent_p.S50S|GPN1_uc010ymd.1_Silent_p.S40S|GPN1_uc010yme.1_Silent_p.S159S|GPN1_uc010ezg.1_Silent_p.S40S NM_007266 NP_009197 Q9HCN4 GPN1_HUMAN GPN-loop GTPase 1 isoform a 145 cytoplasm GTP binding|nucleoside-triphosphatase activity|protein binding 0 TTTAGGCATCCTCATTTCCAA 0.433 14 104 --- --- --- --- PASS GPN1 11321 broad.mit.edu 37 2 27861080 27861080 + Silent SNP C T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr2:27861080C>T uc010ymc.1 + 8 591 c.570C>T c.(568-570)ATC>ATT p.I190I GPN1_uc010ezf.2_Silent_p.I164I|GPN1_uc010yma.1_Silent_p.I97I|GPN1_uc010ymb.1_Silent_p.I81I|GPN1_uc010ymd.1_Silent_p.I71I|GPN1_uc010yme.1_Silent_p.I190I|GPN1_uc010ezg.1_Silent_p.I71I NM_007266 NP_009197 Q9HCN4 GPN1_HUMAN GPN-loop GTPase 1 isoform a 176 cytoplasm GTP binding|nucleoside-triphosphatase activity|protein binding 0 TTTTCAGCATCTTATACAAAA 0.373 8 57 --- --- --- --- PASS C2orf71 388939 broad.mit.edu 37 2 29293539 29293539 + Missense_Mutation SNP G T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr2:29293539G>T uc002rmt.1 - 1 3589 c.3589C>A c.(3589-3591)CGC>AGC p.R1197S NM_001029883 NP_001025054 A6NGG8 CB071_HUMAN hypothetical protein LOC388939 1197 response to stimulus|visual perception photoreceptor outer segment skin(1) 1 CCTGGCTGGCGGTCAGAAGCT 0.622 46 90 --- --- --- --- PASS SPAST 6683 broad.mit.edu 37 2 32361975 32361975 + Missense_Mutation SNP A G G TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr2:32361975A>G uc002roc.2 + 11 1572 c.1351A>G c.(1351-1353)AGA>GGA p.R451G SPAST_uc002rod.2_Missense_Mutation_p.R419G NM_014946 NP_055761 Q9UBP0 SPAST_HUMAN spastin isoform 1 451 Sufficient for microtubule severing. R->G: Abrogates binding to the tail of alpha-tubulin and beta-3-tubulin, impairs ATPase activity and abolishes microtubule severing. cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity breast(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) GTGTGAAAGAAGAGAAGGGGA 0.338 13 26 --- --- --- --- PASS NLRC4 58484 broad.mit.edu 37 2 32476605 32476605 + Missense_Mutation SNP G T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr2:32476605G>T uc002roi.2 - 4 574 c.328C>A c.(328-330)CAT>AAT p.H110N NLRC4_uc002roj.1_Missense_Mutation_p.H110N|NLRC4_uc010ezt.1_Intron NM_021209 NP_067032 Q9NPP4 NLRC4_HUMAN caspase recruitment domain protein 12 110 activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis cytoplasm ATP binding|magnesium ion binding|protein homodimerization activity ovary(3)|large_intestine(1)|lung(1)|skin(1) 6 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) GATGGGGTATGGTACAAGTCC 0.398 35 49 --- --- --- --- PASS LHCGR 3973 broad.mit.edu 37 2 48915007 48915007 + Nonsense_Mutation SNP G T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr2:48915007G>T uc002rwu.3 - 11 1999 c.1929C>A c.(1927-1929)TGC>TGA p.C643* GTF2A1L_uc002rwt.2_Intron NM_000233 NP_000224 P22888 LSHR_HUMAN luteinizing hormone/choriogonadotropin receptor 643 Cytoplasmic (Potential). C->G: Loss of palmitoylation. male genitalia development|male gonad development endosome|integral to plasma membrane luteinizing hormone receptor activity ovary(3)|lung(2)|breast(2)|skin(1) 8 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032) GACGTTTACAGCAGCCAAATT 0.373 Familial_Male-Limited_Precocious_Puberty 24 156 --- --- --- --- PASS FSHR 2492 broad.mit.edu 37 2 49190478 49190478 + Missense_Mutation SNP C G G TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr2:49190478C>G uc002rww.2 - 10 1556 c.1482G>C c.(1480-1482)TGG>TGC p.W494C FSHR_uc002rwx.2_Missense_Mutation_p.W432C|FSHR_uc010fbn.2_Missense_Mutation_p.W468C NM_000145 NP_000136 P23945 FSHR_HUMAN follicle stimulating hormone receptor isoform 1 494 Helical; Name=4; (Potential). female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding ovary(4)|lung(2)|central_nervous_system(1)|skin(1) 8 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) AAGCAAAAATCCAGCCCATCA 0.532 Gonadal_Dysgenesis_46_XX 8 53 --- --- --- --- PASS NRXN1 9378 broad.mit.edu 37 2 50280565 50280565 + Silent SNP C G G TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr2:50280565C>G uc010fbp.2 - 4 1584 c.777G>C c.(775-777)GTG>GTC p.V259V NRXN1_uc002rxb.3_Silent_p.V996V|NRXN1_uc010fbq.2_Silent_p.V1364V|NRXN1_uc002rxe.3_Silent_p.V1294V NM_138735 NP_620072 P58400 NRX1B_HUMAN neurexin 1 isoform beta precursor 259 Extracellular (Potential).|Laminin G-like. angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) CAACCAGTCTCACATTTCCCA 0.502 14 115 --- --- --- --- PASS MALL 7851 broad.mit.edu 37 2 110849307 110849307 + Missense_Mutation SNP T C C TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr2:110849307T>C uc002tfk.2 - 2 920 c.146A>G c.(145-147)CAC>CGC p.H49R MALL_uc010fju.2_Intron NM_005434 NP_005425 Q13021 MALL_HUMAN mal, T-cell differentiation protein-like 49 MARVEL. cholesterol homeostasis clathrin-coated vesicle|Golgi membrane|integral to membrane|membrane raft|plasma membrane protein binding ovary(1)|skin(1) 2 Epithelial(1;0.0546)|STAD - Stomach adenocarcinoma(1;0.18) GTATACTATGTGGGTGGCGGC 0.448 11 77 --- --- --- --- PASS TMEM177 80775 broad.mit.edu 37 2 120439364 120439364 + Nonstop_Mutation SNP G T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr2:120439364G>T uc010flg.1 + 2 1408 c.935G>T c.(934-936)TGA>TTA p.*312L TMEM177_uc002tme.2_Intron|TMEM177_uc002tmc.1_Nonstop_Mutation_p.*312L|TMEM177_uc002tmd.2_Nonstop_Mutation_p.*312L|TMEM177_uc010flh.2_Intron NM_001105198 NP_001098668 Q53S58 TM177_HUMAN transmembrane protein 177 312 integral to membrane ovary(1) 1 Colorectal(110;0.196) GGCCGCTCCTGATGGGCTCAT 0.582 17 90 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141253202 141253202 + Missense_Mutation SNP T C C TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr2:141253202T>C uc002tvj.1 - 56 9938 c.8966A>G c.(8965-8967)TAC>TGC p.Y2989C NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 2989 Extracellular (Potential).|EGF-like 7. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GAGGCACTTGTAAGTCCCGTA 0.453 TSP Lung(27;0.18) 13 95 --- --- --- --- PASS MMADHC 27249 broad.mit.edu 37 2 150426549 150426549 + Missense_Mutation SNP C T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr2:150426549C>T uc002txb.2 - 7 1335 c.830G>A c.(829-831)GGG>GAG p.G277E MMADHC_uc002txc.2_Missense_Mutation_p.G277E|MMADHC_uc010fnu.2_Missense_Mutation_p.G311E NM_015702 NP_056517 Q9H3L0 MMAD_HUMAN methylmalonic aciduria (cobalamin deficiency) 277 mitochondrion central_nervous_system(1)|skin(1) 2 GAAGATACTCCCTACAACTAC 0.383 9 42 --- --- --- --- PASS SCN3A 6328 broad.mit.edu 37 2 165997321 165997321 + Missense_Mutation SNP C T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr2:165997321C>T uc002ucx.2 - 13 2351 c.1859G>A c.(1858-1860)CGA>CAA p.R620Q SCN3A_uc002ucy.2_Missense_Mutation_p.R620Q|SCN3A_uc002ucz.2_Missense_Mutation_p.R620Q|SCN3A_uc002uda.1_Missense_Mutation_p.R489Q|SCN3A_uc002udb.1_Missense_Mutation_p.R489Q NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha 620 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 Lamotrigine(DB00555) ACTGTTGCGTCGCTCTCCATG 0.498 6 48 --- --- --- --- PASS SCN1A 6323 broad.mit.edu 37 2 166848153 166848153 + Nonsense_Mutation SNP C A A rs148703212 TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr2:166848153C>A uc010zcz.1 - 26 5617 c.5599G>T c.(5599-5601)GAG>TAG p.E1867* NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 1878 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) TCTCCACTCTCTCCTAGAACC 0.448 11 88 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179397113 179397113 + Silent SNP A G G TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr2:179397113A>G uc010zfg.1 - 307 96749 c.96525T>C c.(96523-96525)TAT>TAC p.Y32175Y uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.Y25870Y|TTN_uc010zfi.1_Silent_p.Y25803Y|TTN_uc010zfj.1_Silent_p.Y25678Y NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 33102 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) TCAGTTCTGCATAACTTGTAC 0.498 18 93 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179397773 179397773 + Missense_Mutation SNP G C C TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr2:179397773G>C uc010zfg.1 - 307 96089 c.95865C>G c.(95863-95865)TTC>TTG p.F31955L uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.F25650L|TTN_uc010zfi.1_Missense_Mutation_p.F25583L|TTN_uc010zfj.1_Missense_Mutation_p.F25458L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 32882 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) TCTCAAGTCTGAATTCCCCTT 0.453 21 286 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179460466 179460466 + Missense_Mutation SNP C G G TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr2:179460466C>G uc010zfg.1 - 244 50135 c.49911G>C c.(49909-49911)TGG>TGC p.W16637C uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.W10332C|TTN_uc010zfi.1_Missense_Mutation_p.W10265C|TTN_uc010zfj.1_Missense_Mutation_p.W10140C NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 17564 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) CTGGAGAAAACCATGTCAGTT 0.438 2 4 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179582845 179582845 + Silent SNP A T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr2:179582845A>T uc010zfg.1 - 83 21380 c.21156T>A c.(21154-21156)TCT>TCA p.S7052S TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.S3713S NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 7979 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) CTTTATACCAAGAAATTCTAA 0.383 15 53 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179583559 179583559 + Nonsense_Mutation SNP G T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr2:179583559G>T uc010zfg.1 - 81 20860 c.20636C>A c.(20635-20637)TCA>TAA p.S6879* TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Nonsense_Mutation_p.S3540* NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 7806 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) GATGTTGCATGACTCCCCAGG 0.483 6 32 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179597012 179597012 + Nonsense_Mutation SNP G A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr2:179597012G>A uc010zfg.1 - 54 13176 c.12952C>T c.(12952-12954)CAG>TAG p.Q4318* TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Nonsense_Mutation_p.Q979* NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 5245 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) CAGGCTAGCTGGGTGGCATCT 0.403 26 122 --- --- --- --- PASS STAT4 6775 broad.mit.edu 37 2 191897726 191897726 + Missense_Mutation SNP C G G TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr2:191897726C>G uc002usm.1 - 21 2256 c.2002G>C c.(2002-2004)GAC>CAC p.D668H STAT4_uc002usn.1_Missense_Mutation_p.D668H|STAT4_uc010zgk.1_Missense_Mutation_p.D513H|STAT4_uc002uso.2_Missense_Mutation_p.D668H NM_003151 NP_003142 Q14765 STAT4_HUMAN signal transducer and activator of transcription 668 JAK-STAT cascade cytoplasm|nucleus calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(3)|skin(2)|lung(1)|ovary(1)|prostate(1)|pancreas(1) 9 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204) AAGGCTTTGTCTTTGGGAATG 0.398 14 110 --- --- --- --- PASS SATB2 23314 broad.mit.edu 37 2 200193597 200193597 + Missense_Mutation SNP G T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr2:200193597G>T uc002uuy.1 - 8 2027 c.1210C>A c.(1210-1212)CCT>ACT p.P404T SATB2_uc010fsq.1_Missense_Mutation_p.P286T|SATB2_uc002uuz.1_Missense_Mutation_p.P404T|SATB2_uc002uva.1_Missense_Mutation_p.P404T NM_015265 NP_056080 Q9UPW6 SATB2_HUMAN SATB homeobox 2 404 CUT 1. cytoplasm|nuclear matrix sequence-specific DNA binding transcription factor activity ovary(1) 1 GCTGTCCGAGGGTCTTCTTCC 0.468 7 52 --- --- --- --- PASS INO80D 54891 broad.mit.edu 37 2 206911302 206911302 + Silent SNP T A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr2:206911302T>A uc002vaz.3 - 5 1404 c.999A>T c.(997-999)CCA>CCT p.P333P NM_017759 NP_060229 Q53TQ3 IN80D_HUMAN INO80 complex subunit D 333 DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(1) 1 CTGAGTCCTCTGGTTCCTCTC 0.418 12 68 --- --- --- --- PASS C2orf67 151050 broad.mit.edu 37 2 210968907 210968907 + Missense_Mutation SNP C T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr2:210968907C>T uc002vds.2 - 4 1557 c.1349G>A c.(1348-1350)TGT>TAT p.C450Y C2orf67_uc002vdt.2_Missense_Mutation_p.C450Y|C2orf67_uc002vdw.2_Missense_Mutation_p.C450Y|C2orf67_uc002vdv.2_Missense_Mutation_p.C450Y|C2orf67_uc002vdx.1_Missense_Mutation_p.C450Y NM_152519 NP_689732 A0AUZ9 CB067_HUMAN hypothetical protein LOC151050 450 ovary(3) 3 Renal(323;0.202) Epithelial(149;0.00435)|Lung(261;0.0529)|LUSC - Lung squamous cell carcinoma(261;0.0551)|all cancers(144;0.0696) AGGATCTTGACACTCCTGGGG 0.393 5 56 --- --- --- --- PASS CPS1 1373 broad.mit.edu 37 2 211447414 211447414 + Missense_Mutation SNP T A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr2:211447414T>A uc002vee.3 + 6 734 c.602T>A c.(601-603)ATT>AAT p.I201N CPS1_uc010fur.2_Missense_Mutation_p.I207N NM_001875 NP_001866 P31327 CPSM_HUMAN carbamoyl-phosphate synthetase 1 isoform b 201 Anthranilate phosphoribosyltransferase homolog. carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity ovary(8)|central_nervous_system(3)|breast(1)|skin(1) 13 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) CAGAATTTGATTGCTGAGGTT 0.333 6 84 --- --- --- --- PASS PTPRN 5798 broad.mit.edu 37 2 220161512 220161512 + Missense_Mutation SNP T C C TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr2:220161512T>C uc002vkz.2 - 16 2358 c.2269A>G c.(2269-2271)AGC>GGC p.S757G PTPRN_uc010zlc.1_Missense_Mutation_p.S667G|PTPRN_uc002vla.2_Missense_Mutation_p.S728G|uc010zld.1_5'Flank|MIR153-1_hsa-mir-153-1|MI0000463_5'Flank NM_002846 NP_002837 Q16849 PTPRN_HUMAN protein tyrosine phosphatase, receptor type, N 757 Cytoplasmic (Potential).|Tyrosine-protein phosphatase. response to reactive oxygen species integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity ovary(2)|lung(1)|skin(1) 4 Renal(207;0.0474) Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875) GAAGGGCTGCTCTCCACCTTC 0.607 4 47 --- --- --- --- PASS PTPRN 5798 broad.mit.edu 37 2 220162785 220162785 + Missense_Mutation SNP C G G TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr2:220162785C>G uc002vkz.2 - 13 1798 c.1709G>C c.(1708-1710)AGC>ACC p.S570T PTPRN_uc010zlc.1_Missense_Mutation_p.S480T|PTPRN_uc002vla.2_Missense_Mutation_p.S541T NM_002846 NP_002837 Q16849 PTPRN_HUMAN protein tyrosine phosphatase, receptor type, N 570 Extracellular (Potential). response to reactive oxygen species integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity ovary(2)|lung(1)|skin(1) 4 Renal(207;0.0474) Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875) GGGTGAGGTGCTGTGCGCAGT 0.622 11 117 --- --- --- --- PASS SPEG 10290 broad.mit.edu 37 2 220315888 220315888 + Missense_Mutation SNP G T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr2:220315888G>T uc010fwg.2 + 5 2144 c.2144G>T c.(2143-2145)GGA>GTA p.G715V SPEG_uc002vlm.2_RNA|SPEG_uc010fwh.1_5'UTR|SPEG_uc002vln.1_5'UTR|SPEG_uc002vlp.1_5'UTR NM_005876 NP_005867 Q15772 SPEG_HUMAN SPEG complex locus 715 muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity p.V712_P722del(1) stomach(9)|ovary(4)|central_nervous_system(1) 14 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) GTGTCCGCTGGAGAAGAGCCC 0.587 39 169 --- --- --- --- PASS DGKD 8527 broad.mit.edu 37 2 234365572 234365572 + Nonsense_Mutation SNP T A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr2:234365572T>A uc002vui.1 + 20 2415 c.2403T>A c.(2401-2403)TAT>TAA p.Y801* DGKD_uc002vuj.1_Nonsense_Mutation_p.Y757*|DGKD_uc010fyh.1_Nonsense_Mutation_p.Y668*|DGKD_uc010fyi.1_RNA NM_152879 NP_690618 Q16760 DGKD_HUMAN diacylglycerol kinase, delta 130kDa isoform 2 801 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane|plasma membrane ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity central_nervous_system(2)|pancreas(1)|lung(1)|skin(1) 5 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538) Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655) Phosphatidylserine(DB00144) TGATGTGGTATGGAGTTCTTG 0.483 17 84 --- --- --- --- PASS CNTN6 27255 broad.mit.edu 37 3 1262453 1262453 + Silent SNP C A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr3:1262453C>A uc003boz.2 + 3 405 c.138C>A c.(136-138)GTC>GTA p.V46V CNTN6_uc010hbo.2_Silent_p.V41V|CNTN6_uc011asj.1_5'UTR|CNTN6_uc003bpa.2_Silent_p.V46V NM_014461 NP_055276 Q9UQ52 CNTN6_HUMAN contactin 6 precursor 46 Ig-like C2-type 1. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane skin(3)|lung(2)|breast(2)|pancreas(1) 8 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) AATCTGAGGTCATCCTGAATT 0.383 24 71 --- --- --- --- PASS ATG7 10533 broad.mit.edu 37 3 11400049 11400049 + Missense_Mutation SNP G A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr3:11400049G>A uc003bwc.2 + 13 1559 c.1442G>A c.(1441-1443)CGG>CAG p.R481Q ATG7_uc003bwd.2_Missense_Mutation_p.R481Q|ATG7_uc011aum.1_Missense_Mutation_p.R442Q NM_006395 NP_006386 O95352 ATG7_HUMAN APG7 autophagy 7-like isoform a 481 autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport cytoplasm APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity central_nervous_system(1) 1 AGGGAGAGCCGGTGGCTTCCT 0.517 7 39 --- --- --- --- PASS ZNF385D 79750 broad.mit.edu 37 3 21706423 21706423 + Silent SNP A T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr3:21706423A>T uc003cce.2 - 2 528 c.120T>A c.(118-120)CCT>CCA p.P40P ZNF385D_uc010hfb.1_Intron NM_024697 NP_078973 Q9H6B1 Z385D_HUMAN zinc finger protein 385D 40 nucleus nucleic acid binding|zinc ion binding large_intestine(2)|skin(2)|ovary(1) 5 CAGTGTCAAGAGGAAAGGGAA 0.502 12 56 --- --- --- --- PASS GOLGA4 2803 broad.mit.edu 37 3 37365749 37365749 + Missense_Mutation SNP G T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr3:37365749G>T uc003cgv.2 + 14 2676 c.2372G>T c.(2371-2373)GGG>GTG p.G791V GOLGA4_uc010hgr.1_Missense_Mutation_p.G352V|GOLGA4_uc003cgw.2_Missense_Mutation_p.G813V|GOLGA4_uc010hgs.2_Intron|GOLGA4_uc003cgx.2_Missense_Mutation_p.G672V NM_002078 NP_002069 Q13439 GOGA4_HUMAN golgi autoantigen, golgin subfamily a, 4 791 Potential.|Glu-rich. Golgi to plasma membrane protein transport Golgi membrane|trans-Golgi network protein binding ovary(2)|breast(1)|central_nervous_system(1) 4 AGGTCTGAAGGGGAACTCCAG 0.433 24 65 --- --- --- --- PASS SCN10A 6336 broad.mit.edu 37 3 38802845 38802845 + Missense_Mutation SNP G A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr3:38802845G>A uc003ciq.2 - 6 721 c.721C>T c.(721-723)CAC>TAC p.H241Y NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha 241 I. sensory perception voltage-gated sodium channel complex ovary(5)|skin(3)|large_intestine(1)|kidney(1) 10 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) TTCACTGAGTGAATCAGGGCC 0.507 17 31 --- --- --- --- PASS SCN11A 11280 broad.mit.edu 37 3 38962736 38962736 + Silent SNP G C C TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr3:38962736G>C uc011ays.1 - 6 922 c.723C>G c.(721-723)GTC>GTG p.V241V NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha 241 I. response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1) 9 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) CCCCCACGATGACCTTCAGAC 0.537 6 121 --- --- --- --- PASS TGM4 7047 broad.mit.edu 37 3 44935188 44935188 + Splice_Site SNP G T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr3:44935188G>T uc003coc.3 + 5 622 c.549_splice c.e5+1 p.Q183_splice TGM4_uc003cob.2_Splice_Site NM_003241 NP_003232 P49221 TGM4_HUMAN transglutaminase 4 (prostate) peptide cross-linking|protein polyamination acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686) L-Glutamine(DB00130) CTTTGGTCAGGTAATGATTTG 0.507 19 89 --- --- --- --- PASS NBEAL2 23218 broad.mit.edu 37 3 47043973 47043973 + Missense_Mutation SNP G A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr3:47043973G>A uc003cqp.2 + 32 5443 c.5264G>A c.(5263-5265)CGC>CAC p.R1755H NBEAL2_uc010hjm.1_Missense_Mutation_p.R1132H|NBEAL2_uc010hjn.1_Missense_Mutation_p.R151H|NBEAL2_uc010hjo.1_5'Flank NM_015175 NP_055990 Q6ZNJ1 NBEL2_HUMAN neurobeachin-like 2 1755 binding ovary(1) 1 Acute lymphoblastic leukemia(5;0.0534) BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656) GGGCAGCGGCGCCAGTGGGAG 0.577 7 48 --- --- --- --- PASS ITIH1 3697 broad.mit.edu 37 3 52820992 52820992 + Missense_Mutation SNP C A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr3:52820992C>A uc003dfs.2 + 14 1789 c.1765C>A c.(1765-1767)CTG>ATG p.L589M ITIH1_uc010hmn.1_RNA|ITIH1_uc003dft.2_Missense_Mutation_p.L190M|ITIH1_uc010hmo.1_Missense_Mutation_p.L143M|ITIH1_uc003dfu.2_5'Flank NM_002215 NP_002206 P19827 ITIH1_HUMAN inter-alpha (globulin) inhibitor H1 589 Hyaluronan-binding. hyaluronan metabolic process|leukocyte activation extracellular region calcium ion binding|serine-type endopeptidase inhibitor activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498) GAGGGCCAACCTGTCATCCCA 0.557 30 62 --- --- --- --- PASS MAGI1 9223 broad.mit.edu 37 3 66023687 66023687 + Missense_Mutation SNP G C C TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr3:66023687G>C uc003dmn.2 - 1 823 c.297C>G c.(295-297)TTC>TTG p.F99L MAGI1_uc003dmm.2_Missense_Mutation_p.F99L|MAGI1_uc003dmo.2_Missense_Mutation_p.F99L|MAGI1_uc003dmp.2_Missense_Mutation_p.F99L|MAGI1_uc003dmr.2_Missense_Mutation_p.F99L NM_001033057 NP_001028229 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ 99 Guanylate kinase-like.|PDZ 1. cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1) 6 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) TGACGGCCTTGAAGGTGACGG 0.642 66 179 --- --- --- --- PASS OR5H1 26341 broad.mit.edu 37 3 97851588 97851588 + Missense_Mutation SNP G T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr3:97851588G>T uc011bgt.1 + 1 47 c.47G>T c.(46-48)GGA>GTA p.G16V NM_001005338 NP_001005338 A6NKK0 OR5H1_HUMAN olfactory receptor, family 5, subfamily H, 16 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 GTTCTCACAGGATTTTTATAT 0.403 27 93 --- --- --- --- PASS OR5H14 403273 broad.mit.edu 37 3 97868313 97868313 + Missense_Mutation SNP C A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr3:97868313C>A uc003dsg.1 + 1 84 c.84C>A c.(82-84)TTC>TTA p.F28L NM_001005514 NP_001005514 A6NHG9 O5H14_HUMAN olfactory receptor, family 5, subfamily H, 28 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 TACCCCTGTTCCTGGCATTCT 0.423 50 230 --- --- --- --- PASS TBC1D23 55773 broad.mit.edu 37 3 100034982 100034982 + Silent SNP T A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr3:100034982T>A uc003dtt.2 + 16 1815 c.1638T>A c.(1636-1638)CGT>CGA p.R546R TBC1D23_uc003dts.2_Silent_p.R531R|TBC1D23_uc003dtu.2_5'UTR NM_018309 NP_060779 Q9NUY8 TBC23_HUMAN TBC1 domain family, member 23 546 intracellular Rab GTPase activator activity ovary(1)|liver(1) 2 AGCCTTACCGTGGCGTAAAGC 0.403 9 81 --- --- --- --- PASS TBC1D23 55773 broad.mit.edu 37 3 100035014 100035014 + Missense_Mutation SNP A C C TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr3:100035014A>C uc003dtt.2 + 16 1847 c.1670A>C c.(1669-1671)GAA>GCA p.E557A TBC1D23_uc003dts.2_Missense_Mutation_p.E542A|TBC1D23_uc003dtu.2_5'UTR NM_018309 NP_060779 Q9NUY8 TBC23_HUMAN TBC1 domain family, member 23 557 intracellular Rab GTPase activator activity ovary(1)|liver(1) 2 ATTGGGGATGAAGAAGAATAC 0.433 7 66 --- --- --- --- PASS TRAT1 50852 broad.mit.edu 37 3 108568085 108568085 + Missense_Mutation SNP C A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr3:108568085C>A uc003dxi.1 + 5 431 c.287C>A c.(286-288)GCC>GAC p.A96D TRAT1_uc010hpx.1_Missense_Mutation_p.A59D NM_016388 NP_057472 Q6PIZ9 TRAT1_HUMAN T-cell receptor interacting molecule 96 Cytoplasmic (Potential). cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway integral to plasma membrane|T cell receptor complex phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity skin(1) 1 ATGCAGGAAGCCACCCCATCT 0.378 7 60 --- --- --- --- PASS TRAT1 50852 broad.mit.edu 37 3 108568086 108568086 + Silent SNP C A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr3:108568086C>A uc003dxi.1 + 5 432 c.288C>A c.(286-288)GCC>GCA p.A96A TRAT1_uc010hpx.1_Silent_p.A59A NM_016388 NP_057472 Q6PIZ9 TRAT1_HUMAN T-cell receptor interacting molecule 96 Cytoplasmic (Potential). cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway integral to plasma membrane|T cell receptor complex phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity skin(1) 1 TGCAGGAAGCCACCCCATCTG 0.373 7 59 --- --- --- --- PASS GOLGB1 2804 broad.mit.edu 37 3 121414037 121414037 + Missense_Mutation SNP A G G TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr3:121414037A>G uc003eei.3 - 13 5444 c.5318T>C c.(5317-5319)CTA>CCA p.L1773P GOLGB1_uc010hrc.2_Missense_Mutation_p.L1778P|GOLGB1_uc003eej.3_Missense_Mutation_p.L1739P|GOLGB1_uc011bjm.1_Missense_Mutation_p.L1659P|GOLGB1_uc010hrd.1_Missense_Mutation_p.L1737P NM_004487 NP_004478 Q14789 GOGB1_HUMAN golgi autoantigen, golgin subfamily b, 1773 Cytoplasmic (Potential).|Potential. Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding ovary(6)|breast(2)|skin(2) 10 GBM - Glioblastoma multiforme(114;0.0989) GGTGGCCTCTAGGTTAGCTTG 0.403 46 311 --- --- --- --- PASS UMPS 7372 broad.mit.edu 37 3 124458954 124458954 + Nonsense_Mutation SNP G T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr3:124458954G>T uc003ehl.3 + 4 1172 c.1066G>T c.(1066-1068)GAA>TAA p.E356* UMPS_uc003ehm.3_RNA|UMPS_uc011bka.1_Nonsense_Mutation_p.E178*|UMPS_uc011bkb.1_Nonsense_Mutation_p.E264*|UMPS_uc011bkc.1_Nonsense_Mutation_p.E178*|UMPS_uc003ehn.3_Nonsense_Mutation_p.E178*|UMPS_uc011bkd.1_Intron NM_000373 NP_000364 P11172 UMPS_HUMAN uridine monophosphate synthase 356 OMPdecase. 'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process cytosol|nucleus orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity kidney(1) 1 GBM - Glioblastoma multiforme(114;0.146) AGGCCTGCAAGAAGTGGGCCT 0.547 36 231 --- --- --- --- PASS EPHB1 2047 broad.mit.edu 37 3 134967254 134967254 + Missense_Mutation SNP C T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr3:134967254C>T uc003eqt.2 + 14 2813 c.2593C>T c.(2593-2595)CGG>TGG p.R865W EPHB1_uc003equ.2_Missense_Mutation_p.R426W NM_004441 NP_004432 P54762 EPHB1_HUMAN ephrin receptor EphB1 precursor 865 Cytoplasmic (Potential).|Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1) 30 GCAGAAGGACCGGAACAGCCG 0.592 22 75 --- --- --- --- PASS KPNA4 3840 broad.mit.edu 37 3 160225962 160225962 + Silent SNP T C C rs145152566 TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr3:160225962T>C uc003fdn.2 - 15 1611 c.1305A>G c.(1303-1305)CTA>CTG p.L435L NM_002268 NP_002259 O00629 IMA4_HUMAN karyopherin alpha 4 435 ARM 9. NLS-bearing substrate import into nucleus cytoplasm|nuclear pore protein binding 0 Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216) ATATATTACTTAGTCCATCGA 0.363 9 64 --- --- --- --- PASS BCHE 590 broad.mit.edu 37 3 165548177 165548177 + Silent SNP T C C TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr3:165548177T>C uc003fem.3 - 2 805 c.645A>G c.(643-645)GGA>GGG p.G215G BCHE_uc003fen.3_Intron NM_000055 NP_000046 P06276 CHLE_HUMAN butyrylcholinesterase precursor 215 choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic endoplasmic reticulum lumen|extracellular space|membrane acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding ovary(3)|pancreas(1) 4 Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116) TTTTAGGATTTCCACCAAAGG 0.448 20 108 --- --- --- --- PASS BCHE 590 broad.mit.edu 37 3 165548626 165548626 + Missense_Mutation SNP G T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr3:165548626G>T uc003fem.3 - 2 356 c.196C>A c.(196-198)CTT>ATT p.L66I BCHE_uc003fen.3_Intron NM_000055 NP_000046 P06276 CHLE_HUMAN butyrylcholinesterase precursor 66 choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic endoplasmic reticulum lumen|extracellular space|membrane acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding ovary(3)|pancreas(1) 4 Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116) AGTCTACCAAGAGGTGGCTGT 0.418 37 95 --- --- --- --- PASS ZBBX 79740 broad.mit.edu 37 3 167039936 167039936 + Missense_Mutation SNP T C C TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr3:167039936T>C uc003fep.2 - 12 1275 c.952A>G c.(952-954)ATG>GTG p.M318V ZBBX_uc011bpc.1_Missense_Mutation_p.M318V|ZBBX_uc003feq.2_Missense_Mutation_p.M289V NM_024687 NP_078963 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 318 intracellular zinc ion binding ovary(2) 2 AATTTTTCCATATAGGATAGA 0.279 20 38 --- --- --- --- PASS RFC4 5984 broad.mit.edu 37 3 186508170 186508170 + Missense_Mutation SNP C G G TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr3:186508170C>G uc003fqz.2 - 9 1050 c.827G>C c.(826-828)GGA>GCA p.G276A RFC4_uc011bsc.1_Missense_Mutation_p.G276A NM_002916 NP_002907 P35249 RFC4_HUMAN replication factor C 4 276 cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|protein binding breast(2)|upper_aerodigestive_tract(1)|ovary(1)|large_intestine(1) 5 all_cancers(143;2.92e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) GBM - Glioblastoma multiforme(93;0.0739) AGCAAATACTCCATCAATTTT 0.418 12 90 --- --- --- --- PASS C3orf21 152002 broad.mit.edu 37 3 194877236 194877236 + Missense_Mutation SNP C G G TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr3:194877236C>G uc003fum.3 - 3 835 c.727G>C c.(727-729)GAC>CAC p.D243H C3orf21_uc003ful.2_Missense_Mutation_p.D40H|C3orf21_uc011bsw.1_Missense_Mutation_p.D97H NM_152531 NP_689744 Q8NBI6 CC021_HUMAN hypothetical protein LOC152002 243 integral to membrane transferase activity, transferring glycosyl groups 0 all_cancers(143;9.33e-09)|Ovarian(172;0.0634) Epithelial(36;1.73e-20)|all cancers(36;1.42e-18)|OV - Ovarian serous cystadenocarcinoma(49;1.56e-17)|Lung(62;0.000117)|LUSC - Lung squamous cell carcinoma(58;0.000146) GBM - Glioblastoma multiforme(46;1.36e-05) AGGAAACTGTCAAATTCCTCA 0.552 6 110 --- --- --- --- PASS MUC4 4585 broad.mit.edu 37 3 195492241 195492241 + Missense_Mutation SNP C G G TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr3:195492241C>G uc011bto.1 - 10 13774 c.13314G>C c.(13312-13314)AAG>AAC p.K4438N MUC4_uc003fuz.2_Missense_Mutation_p.K164N|MUC4_uc003fva.2_Missense_Mutation_p.K46N|MUC4_uc003fvb.2_Missense_Mutation_p.K82N|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_Missense_Mutation_p.K82N|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_Missense_Mutation_p.K46N|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_Missense_Mutation_p.K130N|MUC4_uc011bti.1_Missense_Mutation_p.K130N|MUC4_uc011btj.1_Missense_Mutation_p.K307N|MUC4_uc011btk.1_Missense_Mutation_p.K46N|MUC4_uc011btl.1_Missense_Mutation_p.K75N|MUC4_uc011btm.1_Missense_Mutation_p.K255N|MUC4_uc011btn.1_Missense_Mutation_p.K46N|MUC4_uc003fvo.2_Missense_Mutation_p.K330N|MUC4_uc003fvp.2_Missense_Mutation_p.K279N|MUC4_uc010hzu.1_Missense_Mutation_p.K1178N NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a 1323 AMOP. cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 0 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GAGGCTGGCTCTTCAGCCACT 0.637 11 73 --- --- --- --- PASS UGT2A3 79799 broad.mit.edu 37 4 69811054 69811054 + Missense_Mutation SNP C A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr4:69811054C>A uc003hef.2 - 2 865 c.834G>T c.(832-834)TTG>TTT p.L278F UGT2A3_uc010ihp.1_RNA NM_024743 NP_079019 Q6UWM9 UD2A3_HUMAN UDP glucuronosyltransferase 2 family, 278 Extracellular (Potential). integral to membrane glucuronosyltransferase activity ovary(1)|skin(1) 2 GTTTACAGTGCAATCCTCCAA 0.373 7 47 --- --- --- --- PASS ENAM 10117 broad.mit.edu 37 4 71509751 71509751 + Nonsense_Mutation SNP C T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr4:71509751C>T uc011caw.1 + 9 2889 c.2608C>T c.(2608-2610)CAG>TAG p.Q870* NM_031889 NP_114095 Q9NRM1 ENAM_HUMAN enamelin precursor 870 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel ovary(3) 3 Lung(101;0.235) TCACCTAAGCCAGAGAGGCTC 0.473 14 63 --- --- --- --- PASS SLC4A4 8671 broad.mit.edu 37 4 72316226 72316226 + Nonsense_Mutation SNP G T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr4:72316226G>T uc003hfy.2 + 10 1291 c.1174G>T c.(1174-1176)GAG>TAG p.E392* SLC4A4_uc010iic.2_Nonsense_Mutation_p.E392*|SLC4A4_uc010iib.2_Nonsense_Mutation_p.E392*|SLC4A4_uc003hfz.2_Nonsense_Mutation_p.E392*|SLC4A4_uc003hgc.3_Nonsense_Mutation_p.E348*|SLC4A4_uc010iid.2_5'UTR|SLC4A4_uc003hga.2_Nonsense_Mutation_p.E270*|SLC4A4_uc003hgb.3_Nonsense_Mutation_p.E348* NM_001098484 NP_001091954 Q9Y6R1 S4A4_HUMAN solute carrier family 4, sodium bicarbonate 392 Cytoplasmic (Potential). basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity ovary(3)|kidney(1)|skin(1) 5 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) AATTAGGATAGAGCCTCCTAA 0.428 5 37 --- --- --- --- PASS DSPP 1834 broad.mit.edu 37 4 88535380 88535380 + Silent SNP T C C TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr4:88535380T>C uc003hqu.2 + 5 1686 c.1566T>C c.(1564-1566)AAT>AAC p.N522N NM_014208 NP_055023 Q9NZW4 DSPP_HUMAN dentin sialophosphoprotein preproprotein 522 Asp/Ser-rich. biomineral tissue development|ossification|skeletal system development proteinaceous extracellular matrix calcium ion binding|collagen binding|extracellular matrix structural constituent central_nervous_system(1) 1 Hepatocellular(203;0.114)|all_hematologic(202;0.236) OV - Ovarian serous cystadenocarcinoma(123;0.000508) CAGACACTAATAATAGTGACA 0.333 12 31 --- --- --- --- PASS FAM190A 401145 broad.mit.edu 37 4 91549316 91549316 + Missense_Mutation SNP G T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr4:91549316G>T uc003hsv.3 + 6 2205 c.1865G>T c.(1864-1866)AGA>ATA p.R622I FAM190A_uc010ikv.2_RNA|FAM190A_uc003hsw.2_Missense_Mutation_p.R622I NM_001145065 NP_001138537 Q9C0I3 F190A_HUMAN KIAA1680 protein isoform 1 622 large_intestine(1)|ovary(1) 2 CTGCCATTCAGACTGATGTTA 0.463 19 54 --- --- --- --- PASS ANXA5 308 broad.mit.edu 37 4 122592701 122592701 + Splice_Site SNP C A A rs113374737 TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr4:122592701C>A uc003idu.3 - 9 791 c.721_splice c.e9+1 p.V241_splice ANXA5_uc003idv.3_Splice_Site_p.V241_splice|ANXA5_uc003idw.3_Splice_Site|ANXA5_uc010inm.2_Splice_Site_p.V241_splice|ANXA5_uc010inn.2_Splice_Site_p.V181_splice|ANXA5_uc010ino.2_Splice_Site_p.V141_splice NM_001154 NP_001145 P08758 ANXA5_HUMAN annexin 5 anti-apoptosis|blood coagulation|negative regulation of coagulation|signal transduction cytoplasm calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity ovary(1) 1 AAATCACCTACCAACAGCAAG 0.383 4 28 --- --- --- --- PASS TIGD4 201798 broad.mit.edu 37 4 153690989 153690989 + Missense_Mutation SNP T A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr4:153690989T>A uc003imy.2 - 2 1950 c.1168A>T c.(1168-1170)ACA>TCA p.T390S NM_145720 NP_663772 Q8IY51 TIGD4_HUMAN tigger transposable element derived 4 390 regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus chromatin binding|DNA binding ovary(1) 1 all_hematologic(180;0.093) TCTGCATTTGTTATGTCACTT 0.428 29 94 --- --- --- --- PASS GUCY1A3 2982 broad.mit.edu 37 4 156632156 156632156 + Missense_Mutation SNP C G G TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr4:156632156C>G uc003iov.2 + 7 1375 c.839C>G c.(838-840)TCG>TGG p.S280W GUCY1A3_uc003iou.2_Missense_Mutation_p.S280W|GUCY1A3_uc010iqc.2_Missense_Mutation_p.S280W|GUCY1A3_uc003iow.2_Missense_Mutation_p.S280W|GUCY1A3_uc010iqd.2_Missense_Mutation_p.S279W|GUCY1A3_uc003iox.2_Missense_Mutation_p.S280W|GUCY1A3_uc003ioz.2_Missense_Mutation_p.S45W|GUCY1A3_uc003ioy.2_Missense_Mutation_p.S280W|GUCY1A3_uc010iqe.2_Missense_Mutation_p.S45W|GUCY1A3_uc003ipa.2_Intron|GUCY1A3_uc003ipb.2_Missense_Mutation_p.S280W NM_000856 NP_000847 Q02108 GCYA3_HUMAN guanylate cyclase 1, soluble, alpha 3 isoform A 280 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(2)|ovary(1)|skin(1) 4 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) ATTCCCACATCGCTATTCTGC 0.463 19 78 --- --- --- --- PASS WDR17 116966 broad.mit.edu 37 4 177081224 177081224 + Missense_Mutation SNP G T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr4:177081224G>T uc003iuj.2 + 20 2833 c.2677G>T c.(2677-2679)GTC>TTC p.V893F WDR17_uc003iuk.2_Missense_Mutation_p.V869F|WDR17_uc003ium.3_Missense_Mutation_p.V869F|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_Missense_Mutation_p.V112F NM_170710 NP_733828 Q8IZU2 WDR17_HUMAN WD repeat domain 17 isoform 1 893 ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1) 6 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) GAAAAAGCTAGTCCATTTTTT 0.398 19 49 --- --- --- --- PASS PLEKHG4B 153478 broad.mit.edu 37 5 143200 143200 + Missense_Mutation SNP G A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr5:143200G>A uc003jak.2 + 2 498 c.448G>A c.(448-450)GGC>AGC p.G150S NM_052909 NP_443141 Q96PX9 PKH4B_HUMAN pleckstrin homology domain containing, family G 150 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity skin(2) 2 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) CACAGACGGCGGCAGCCTCCA 0.617 38 150 --- --- --- --- PASS SLC6A18 348932 broad.mit.edu 37 5 1238097 1238097 + Silent SNP G T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr5:1238097G>T uc003jby.1 + 5 777 c.654G>T c.(652-654)CTG>CTT p.L218L NM_182632 NP_872438 Q96N87 S6A18_HUMAN solute carrier family 6, member 18 218 Helical; Name=5; (Potential). cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity ovary(1) 1 all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10) Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) TCCCTTACCTGGTCCTGACCA 0.488 17 84 --- --- --- --- PASS ADAMTS16 170690 broad.mit.edu 37 5 5190155 5190155 + Missense_Mutation SNP G A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr5:5190155G>A uc003jdl.2 + 7 1257 c.1119G>A c.(1117-1119)ATG>ATA p.M373I ADAMTS16_uc003jdk.1_Missense_Mutation_p.M373I|ADAMTS16_uc003jdj.1_Missense_Mutation_p.M373I NM_139056 NP_620687 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 373 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1) 8 CTGGATTGATGGGGAAAGATG 0.532 26 129 --- --- --- --- PASS DNAH5 1767 broad.mit.edu 37 5 13885145 13885145 + Missense_Mutation SNP T A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr5:13885145T>A uc003jfd.2 - 19 2978 c.2936A>T c.(2935-2937)GAG>GTG p.E979V NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 979 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) GCGAATGGCCTCTAGTGTATT 0.428 Kartagener_syndrome 24 123 --- --- --- --- PASS ADAMTS12 81792 broad.mit.edu 37 5 33662024 33662024 + Missense_Mutation SNP G T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr5:33662024G>T uc003jia.1 - 6 1200 c.1037C>A c.(1036-1038)ACC>AAC p.T346N ADAMTS12_uc010iuq.1_Missense_Mutation_p.T346N NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 346 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 GGTGTACCTGGTGAGAAGGAC 0.498 HNSCC(64;0.19) 24 86 --- --- --- --- PASS HEATR7B2 133558 broad.mit.edu 37 5 41061722 41061722 + Missense_Mutation SNP G T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr5:41061722G>T uc003jmj.3 - 6 1055 c.565C>A c.(565-567)CTG>ATG p.L189M NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 189 binding ovary(6)|central_nervous_system(2) 8 TACCAGAACAGCATGAAGATC 0.493 30 247 --- --- --- --- PASS RGNEF 64283 broad.mit.edu 37 5 73163721 73163721 + Missense_Mutation SNP C T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr5:73163721C>T uc011csq.1 + 18 2184 c.2173C>T c.(2173-2175)CCA>TCA p.P725S RGNEF_uc003kcx.2_Missense_Mutation_p.P725S|RGNEF_uc010izf.2_Missense_Mutation_p.P725S|RGNEF_uc011csr.1_Missense_Mutation_p.P412S NM_001080479 NP_001073948 Q8N1W1 RGNEF_HUMAN Rho-guanine nucleotide exchange factor 725 cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction cytoplasm|plasma membrane metal ion binding|Rho guanyl-nucleotide exchange factor activity|RNA binding 0 Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;1.25e-51) TAGAGACATCCCACAGCCTGG 0.478 8 55 --- --- --- --- PASS OTP 23440 broad.mit.edu 37 5 76932928 76932928 + Silent SNP G T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr5:76932928G>T uc003kfg.2 - 2 313 c.165C>A c.(163-165)GCC>GCA p.A55A NM_032109 NP_115485 Q5XKR4 OTP_HUMAN orthopedia homeobox 55 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity pancreas(1) 1 all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214) OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41) GCAGCAGAGTGGCTCCCTCCA 0.731 6 16 --- --- --- --- PASS RASA1 5921 broad.mit.edu 37 5 86674274 86674274 + Missense_Mutation SNP G A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr5:86674274G>A uc003kiw.2 + 18 2524 c.2406G>A c.(2404-2406)ATG>ATA p.M802I RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Missense_Mutation_p.M625I|RASA1_uc011ctv.1_Missense_Mutation_p.M635I|RASA1_uc011ctw.1_Missense_Mutation_p.M636I|RASA1_uc010jaw.2_Missense_Mutation_p.M624I NM_002890 NP_002881 P20936 RASA1_HUMAN RAS p21 protein activator 1 isoform 1 802 Ras-GAP. 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) AGCAGTATATGAAAGCCACTG 0.353 14 55 --- --- --- --- PASS GPR98 84059 broad.mit.edu 37 5 89953848 89953848 + Missense_Mutation SNP C T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr5:89953848C>T uc003kju.2 + 21 4601 c.4505C>T c.(4504-4506)CCC>CTC p.P1502L GPR98_uc003kjt.2_5'UTR NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 1502 Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) CATGCCATGCCCGCAAAAAGT 0.413 16 75 --- --- --- --- PASS PCDHA7 56141 broad.mit.edu 37 5 140216232 140216232 + Missense_Mutation SNP G A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr5:140216232G>A uc003lhq.2 + 1 2264 c.2264G>A c.(2263-2265)CGG>CAG p.R755Q PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.R755Q NM_018910 NP_061733 Q9UN72 PCDA7_HUMAN protocadherin alpha 7 isoform 1 precursor 755 Cytoplasmic (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGCAGAGGCGGCAGAGGGTG 0.617 10 50 --- --- --- --- PASS EBF1 1879 broad.mit.edu 37 5 158141190 158141190 + Nonsense_Mutation SNP C A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr5:158141190C>A uc010jip.2 - 12 1428 c.1126G>T c.(1126-1128)GAA>TAA p.E376* EBF1_uc011ddw.1_Nonsense_Mutation_p.E244*|EBF1_uc011ddx.1_Nonsense_Mutation_p.E377*|EBF1_uc003lxl.3_Nonsense_Mutation_p.E345* NM_024007 NP_076870 Q9UH73 COE1_HUMAN early B-cell factor 376 multicellular organismal development nucleus DNA binding|metal ion binding HMGA2/EBF1(2) soft_tissue(2)|ovary(1)|central_nervous_system(1)|pancreas(1) 5 Renal(175;0.00196) Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AGTATTACTTCCTGTCAAGAG 0.488 T HMGA2 lipoma 28 122 --- --- --- --- PASS ATP10B 23120 broad.mit.edu 37 5 160031014 160031014 + Silent SNP A T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr5:160031014A>T uc003lym.1 - 20 4042 c.3195T>A c.(3193-3195)GCT>GCA p.A1065A ATP10B_uc010jit.1_Silent_p.A382A NM_025153 NP_079429 O94823 AT10B_HUMAN ATPase, class V, type 10B 1065 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CAATATCAGCAGCTTGAATCA 0.403 14 72 --- --- --- --- PASS LMAN2 10960 broad.mit.edu 37 5 176759097 176759097 + Missense_Mutation SNP C A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr5:176759097C>A uc003mge.2 - 8 1298 c.1061G>T c.(1060-1062)CGC>CTC p.R354L LMAN2_uc003mgd.2_3'UTR NM_006816 NP_006807 Q12907 LMAN2_HUMAN lectin, mannose-binding 2 precursor 354 Cytoplasmic (Potential). protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane metal ion binding|sugar binding 0 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TCAGTAGAAGCGCTTGTTCCG 0.597 5 29 --- --- --- --- PASS SIRT5 23408 broad.mit.edu 37 6 13592056 13592056 + Silent SNP C T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr6:13592056C>T uc003nay.2 + 5 701 c.405C>T c.(403-405)GTC>GTT p.V135V SIRT5_uc003naw.2_Silent_p.V135V|SIRT5_uc003nax.2_Silent_p.V27V|SIRT5_uc011dit.1_Silent_p.V135V NM_012241 NP_036373 Q9NXA8 SIRT5_HUMAN sirtuin 5 isoform 1 135 Deacetylase sirtuin-type. chromatin silencing|protein ADP-ribosylation|protein deacetylation mitochondrial intermembrane space|mitochondrial matrix hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|zinc ion binding skin(2)|upper_aerodigestive_tract(1) 3 Breast(50;0.00669)|Ovarian(93;0.0634) all_hematologic(90;0.117) Epithelial(50;0.176) Suramin(DB04786) GCCGGCGAGTCGTGGTCATCA 0.647 12 35 --- --- --- --- PASS HIST1H3A 8350 broad.mit.edu 37 6 26020744 26020744 + Silent SNP G T T rs140398034 byFrequency TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr6:26020744G>T uc003nfp.1 + 1 27 c.27G>T c.(25-27)CGG>CGT p.R9R HIST1H1A_uc003nfo.2_5'Flank|HIST1H4A_uc003nfq.2_5'Flank NM_003529 NP_003520 P68431 H31_HUMAN histone cluster 1, H3a 9 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding ovary(1)|pancreas(1) 2 AAACTGCTCGGAAGTCTACTG 0.572 9 46 --- --- --- --- PASS GABBR1 2550 broad.mit.edu 37 6 29574954 29574954 + Silent SNP G A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr6:29574954G>A uc003nmt.3 - 17 2370 c.2034C>T c.(2032-2034)TAC>TAT p.Y678Y GABBR1_uc003nmp.3_Silent_p.Y561Y|GABBR1_uc003nms.3_Silent_p.Y561Y|GABBR1_uc003nmu.3_Silent_p.Y616Y|GABBR1_uc011dlr.1_Silent_p.Y501Y NM_001470 NP_001461 Q9UBS5 GABR1_HUMAN gamma-aminobutyric acid (GABA) B receptor 1 678 Helical; Name=3; (Potential). gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity ovary(5)|liver(1)|skin(1) 7 Baclofen(DB00181)|Progabide(DB00837) ACATGGAACCGTAGCCCAGAC 0.562 25 68 --- --- --- --- PASS LEMD2 221496 broad.mit.edu 37 6 33756175 33756175 + Missense_Mutation SNP T A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr6:33756175T>A uc011drm.1 - 1 732 c.719A>T c.(718-720)CAG>CTG p.Q240L LEMD2_uc011drl.1_5'Flank|LEMD2_uc003ofe.2_Intron NM_181336 NP_851853 Q8NC56 LEMD2_HUMAN LEM domain containing 2 isoform 1 240 integral to nuclear inner membrane central_nervous_system(1) 1 CTCCGCCTCCTGCGGCGCTGA 0.706 3 9 --- --- --- --- PASS TREM1 54210 broad.mit.edu 37 6 41250247 41250247 + Missense_Mutation SNP C A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr6:41250247C>A uc003oqf.1 - 2 356 c.292G>T c.(292-294)GTC>TTC p.V98F TREM1_uc003oqg.1_Missense_Mutation_p.V98F NM_018643 NP_061113 Q9NP99 TREM1_HUMAN triggering receptor expressed on myeloid cells 1 98 Extracellular (Potential).|Ig-like V-type. blood coagulation|humoral immune response|intracellular signal transduction|leukocyte migration extracellular region|integral to membrane|intracellular|plasma membrane receptor activity breast(1) 1 Ovarian(28;0.0327)|Colorectal(47;0.196) Glutathione(DB00143) ACCATTCGGACGCGCAGTAAA 0.507 6 94 --- --- --- --- PASS ENPP4 22875 broad.mit.edu 37 6 46111159 46111159 + Missense_Mutation SNP C G G TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr6:46111159C>G uc003oxy.2 + 4 1403 c.1144C>G c.(1144-1146)CCA>GCA p.P382A NM_014936 NP_055751 Q9Y6X5 ENPP4_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 382 Extracellular (Potential). integral to membrane hydrolase activity ovary(3)|skin(1) 4 GGGATTAAAACCACATCCCAA 0.438 12 196 --- --- --- --- PASS PKHD1 5314 broad.mit.edu 37 6 51948026 51948026 + Missense_Mutation SNP G T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr6:51948026G>T uc003pah.1 - 3 356 c.80C>A c.(79-81)CCT>CAT p.P27H PKHD1_uc003pai.2_Missense_Mutation_p.P27H NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 27 Extracellular (Potential).|IPT/TIG 1; atypical. cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) ACCTTCTTCAGGTTCAATATG 0.393 28 57 --- --- --- --- PASS EYS 346007 broad.mit.edu 37 6 66063359 66063359 + Missense_Mutation SNP C A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr6:66063359C>A uc011dxu.1 - 9 1989 c.1451G>T c.(1450-1452)GGA>GTA p.G484V EYS_uc003peq.2_Missense_Mutation_p.G484V|EYS_uc003per.1_Missense_Mutation_p.G484V NM_001142800 NP_001136272 Q5T1H1 EYS_HUMAN eyes shut homolog isoform 1 484 response to stimulus|visual perception extracellular region calcium ion binding lung(4)|ovary(1)|skin(1) 6 ACCTGCAAATCCCAATTGCCA 0.338 9 55 --- --- --- --- PASS DPPA5 340168 broad.mit.edu 37 6 74063882 74063882 + Missense_Mutation SNP G C C TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr6:74063882G>C uc003pgs.1 - 1 72 c.67C>G c.(67-69)CCA>GCA p.P23A NM_001025290 NP_001020461 A6NC42 DPPA5_HUMAN developmental pluripotency associated 5 23 KH; atypical. multicellular organismal development cytoplasm RNA binding 0 AACACCTCTGGATCTTTCAGG 0.607 10 93 --- --- --- --- PASS TBX18 9096 broad.mit.edu 37 6 85446855 85446855 + Missense_Mutation SNP C A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr6:85446855C>A uc003pkl.1 - 8 1372 c.1372G>T c.(1372-1374)GTG>TTG p.V458L TBX18_uc010kbq.1_Intron NM_001080508 NP_001073977 O95935 TBX18_HUMAN T-box 18 458 multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|pancreas(2)|lung(1) 5 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) CTCACGCCCACATAGGAGGGA 0.587 22 115 --- --- --- --- PASS SYNCRIP 10492 broad.mit.edu 37 6 86332363 86332363 + Missense_Mutation SNP T G G TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr6:86332363T>G uc003pla.2 - 8 1386 c.845A>C c.(844-846)AAG>ACG p.K282T SYNCRIP_uc003pku.2_Missense_Mutation_p.K282T|SYNCRIP_uc003pkw.2_Missense_Mutation_p.K282T|SYNCRIP_uc003pky.2_Missense_Mutation_p.K184T|SYNCRIP_uc003pkv.2_Missense_Mutation_p.K282T|SYNCRIP_uc003pkx.2_Missense_Mutation_p.K130T|SYNCRIP_uc003pkz.2_Missense_Mutation_p.K282T NM_006372 NP_006363 O60506 HNRPQ_HUMAN synaptotagmin binding, cytoplasmic RNA 282 RRM 2. CRD-mediated mRNA stabilization|interspecies interaction between organisms catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm nucleotide binding|protein binding ovary(2) 2 all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297) BRCA - Breast invasive adenocarcinoma(108;0.0389) GTTTTTTTTCTTGTCATCCGG 0.418 23 134 --- --- --- --- PASS ZNF292 23036 broad.mit.edu 37 6 87964863 87964863 + Missense_Mutation SNP G T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr6:87964863G>T uc003plm.3 + 8 1557 c.1516G>T c.(1516-1518)GGC>TGC p.G506C NM_015021 NP_055836 O60281 ZN292_HUMAN zinc finger protein 292 506 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4) 4 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) TGCTAATTCTGGCCTTCTTAA 0.388 7 45 --- --- --- --- PASS ORC3L 23595 broad.mit.edu 37 6 88311521 88311521 + Silent SNP G T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr6:88311521G>T uc003pmh.2 + 3 143 c.99G>T c.(97-99)GGG>GGT p.G33G ORC3L_uc011dzl.1_Silent_p.G33G|ORC3L_uc011dzm.1_Silent_p.G33G|ORC3L_uc011dzn.1_RNA|ORC3L_uc003pmg.2_Silent_p.G33G|ORC3L_uc003pmi.2_Silent_p.G33G|ORC3L_uc011dzo.1_Intron|ORC3L_uc011dzp.1_Intron NM_012381 NP_036513 Q9UBD5 ORC3_HUMAN origin recognition complex, subunit 3 isoform 2 33 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle nuclear origin of replication recognition complex|nucleoplasm DNA replication origin binding|protein binding 0 all_cancers(76;9.05e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000114) BRCA - Breast invasive adenocarcinoma(108;0.0469) TTAACAAAGGGAAAAATGAGC 0.303 6 31 --- --- --- --- PASS GABRR2 2570 broad.mit.edu 37 6 89974189 89974189 + Missense_Mutation SNP G A A rs149245573 by1000genomes TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr6:89974189G>A uc003pnb.2 - 8 1111 c.1103C>T c.(1102-1104)GCG>GTG p.A368V GABRR2_uc011dzx.1_Missense_Mutation_p.A244V NM_002043 NP_002034 P28476 GBRR2_HUMAN gamma-aminobutyric acid (GABA) receptor, rho 2 368 Helical; (Potential). 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 0 all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0158) GTTGACAGCCGCATACTCCAG 0.597 3 55 --- --- --- --- PASS GABRR2 2570 broad.mit.edu 37 6 89974291 89974291 + Missense_Mutation SNP G T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr6:89974291G>T uc003pnb.2 - 8 1009 c.1001C>A c.(1000-1002)ACG>AAG p.T334K GABRR2_uc011dzx.1_Missense_Mutation_p.T210K NM_002043 NP_002034 P28476 GBRR2_HUMAN gamma-aminobutyric acid (GABA) receptor, rho 2 334 Helical; (Potential). 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 0 all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0158) ATTCACGCCCGTGATGATGGT 0.567 12 107 --- --- --- --- PASS HACE1 57531 broad.mit.edu 37 6 105219949 105219949 + Missense_Mutation SNP C A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr6:105219949C>A uc003pqu.1 - 18 2142 c.1865G>T c.(1864-1866)GGA>GTA p.G622V HACE1_uc010kcy.1_Missense_Mutation_p.G104V|HACE1_uc010kcz.1_Intron|HACE1_uc010kcx.1_Missense_Mutation_p.G31V|HACE1_uc003pqt.1_Missense_Mutation_p.G275V NM_020771 NP_065822 Q8IYU2 HACE1_HUMAN HECT domain and ankyrin repeat containing, E3 622 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process endoplasmic reticulum ubiquitin-protein ligase activity ovary(5)|lung(2) 7 all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202) BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204) AAAAGTTGTTCCTATTGaaat 0.323 5 25 --- --- --- --- PASS PRDM1 639 broad.mit.edu 37 6 106555118 106555118 + Silent SNP G T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr6:106555118G>T uc003prd.2 + 7 2469 c.2235G>T c.(2233-2235)GTG>GTT p.V745V PRDM1_uc003pre.2_Silent_p.V611V NM_001198 NP_001189 O75626 PRDM1_HUMAN PR domain containing 1, with ZNF domain isoform 745 negative regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding haematopoietic_and_lymphoid_tissue(54)|ovary(1)|skin(1) 56 Breast(9;0.022) all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365) all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05) TCGAGGACGTGGAGGATGACA 0.507 D|N|Mis|F|S DLBCL 31 196 --- --- --- --- PASS LACE1 246269 broad.mit.edu 37 6 108840991 108840991 + Missense_Mutation SNP T C C TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr6:108840991T>C uc003psj.2 + 12 1481 c.1295T>C c.(1294-1296)ATG>ACG p.M432T NM_145315 NP_660358 Q8WV93 LACE1_HUMAN lactation elevated 1 432 ATP binding central_nervous_system(1) 1 all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152) BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118) AGAATACTGATGGATGATTTG 0.373 12 62 --- --- --- --- PASS EYA4 2070 broad.mit.edu 37 6 133802602 133802602 + Silent SNP A T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr6:133802602A>T uc003qec.3 + 12 1430 c.972A>T c.(970-972)GGA>GGT p.G324G EYA4_uc011ecq.1_Silent_p.G270G|EYA4_uc011ecr.1_Silent_p.G276G|EYA4_uc003qed.3_Silent_p.G324G|EYA4_uc003qee.3_Silent_p.G301G|EYA4_uc011ecs.1_Silent_p.G330G|uc003qef.1_Intron NM_004100 NP_004091 O95677 EYA4_HUMAN eyes absent 4 isoform a 324 anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity large_intestine(2) 2 Colorectal(23;0.221) GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152) TATCTATAGGAGAGTTCGATA 0.383 19 125 --- --- --- --- PASS ALDH8A1 64577 broad.mit.edu 37 6 135271188 135271188 + Missense_Mutation SNP C A A rs141981819 by1000genomes TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr6:135271188C>A uc003qew.2 - 1 57 c.4G>T c.(4-6)GCT>TCT p.A2S ALDH8A1_uc003qex.2_Missense_Mutation_p.A2S|ALDH8A1_uc010kgh.2_5'UTR|ALDH8A1_uc011ecx.1_Missense_Mutation_p.A2S NM_022568 NP_072090 Q9H2A2 AL8A1_HUMAN aldehyde dehydrogenase 8A1 isoform 1 2 retinal metabolic process cytoplasm retinal dehydrogenase activity ovary(2)|pancreas(1)|skin(1) 4 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058) TTTGTTCCAGCCATAGCAAGG 0.468 10 93 --- --- --- --- PASS ALDH8A1 64577 broad.mit.edu 37 6 135271189 135271189 + Missense_Mutation SNP C A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr6:135271189C>A uc003qew.2 - 1 56 c.3G>T c.(1-3)ATG>ATT p.M1I ALDH8A1_uc003qex.2_Missense_Mutation_p.M1I|ALDH8A1_uc010kgh.2_5'UTR|ALDH8A1_uc011ecx.1_Missense_Mutation_p.M1I NM_022568 NP_072090 Q9H2A2 AL8A1_HUMAN aldehyde dehydrogenase 8A1 isoform 1 1 retinal metabolic process cytoplasm retinal dehydrogenase activity ovary(2)|pancreas(1)|skin(1) 4 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058) TTGTTCCAGCCATAGCAAGGA 0.473 10 94 --- --- --- --- PASS IL22RA2 116379 broad.mit.edu 37 6 137466874 137466874 + Nonsense_Mutation SNP C A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr6:137466874C>A uc003qhl.2 - 7 980 c.679G>T c.(679-681)GAA>TAA p.E227* IL22RA2_uc003qhm.2_Nonsense_Mutation_p.E195*|IL22RA2_uc003qhn.2_3'UTR NM_052962 NP_443194 Q969J5 I22R2_HUMAN interleukin 22-binding protein isoform 1 227 Fibronectin type-III 3. regulation of tyrosine phosphorylation of Stat3 protein extracellular space interleukin-22 receptor activity 0 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000313)|OV - Ovarian serous cystadenocarcinoma(155;0.00407) GCTTCAATTTCAACCGCTCTG 0.428 17 66 --- --- --- --- PASS UTRN 7402 broad.mit.edu 37 6 144794931 144794931 + Missense_Mutation SNP G A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr6:144794931G>A uc003qkt.2 + 23 3234 c.3142G>A c.(3142-3144)GAC>AAC p.D1048N UTRN_uc010khq.1_Missense_Mutation_p.D1048N NM_007124 NP_009055 P46939 UTRO_HUMAN utrophin 1048 Spectrin 7. 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) TGCCCAAGGAGACGACGCAGG 0.443 3 46 --- --- --- --- PASS UTRN 7402 broad.mit.edu 37 6 145161969 145161969 + Splice_Site SNP G T T rs141700678 TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr6:145161969G>T uc003qkt.2 + 72 10362 c.10270_splice c.e72+1 p.P3424_splice NM_007124 NP_009055 P46939 UTRO_HUMAN utrophin 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) TCTTGCTGCCGTGAGTATGAA 0.542 10 80 --- --- --- --- PASS ESR1 2099 broad.mit.edu 37 6 152415692 152415692 + Silent SNP C A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr6:152415692C>A uc003qom.3 + 9 1912 c.1542C>A c.(1540-1542)ATC>ATA p.I514I ESR1_uc010kin.2_Silent_p.I514I|ESR1_uc010kio.2_Silent_p.I516I|ESR1_uc010kip.2_Silent_p.I513I|ESR1_uc003qon.3_Silent_p.I514I|ESR1_uc003qoo.3_Silent_p.I514I|ESR1_uc010kiq.2_Silent_p.I112I|ESR1_uc010kir.2_Silent_p.I253I|ESR1_uc011eet.1_RNA|ESR1_uc011eeu.1_Intron|ESR1_uc011eev.1_Silent_p.I99I|ESR1_uc011eew.1_Missense_Mutation_p.Q91K|ESR1_uc010kis.2_Silent_p.I183I|ESR1_uc011eex.1_Intron|ESR1_uc011eey.1_Intron NM_001122742 NP_001116214 P03372 ESR1_HUMAN estrogen receptor alpha isoform 4 514 Steroid-binding.|Interaction with AKAP13. positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus chromatin remodeling complex|cytoplasm|nucleoplasm beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding central_nervous_system(2)|ovary(1)|lung(1)|breast(1) 5 Ovarian(120;0.0448) BRCA - Breast invasive adenocarcinoma(37;0.0841) OV - Ovarian serous cystadenocarcinoma(155;4.55e-10) Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539) TCTCCCACATCAGGCACATGA 0.582 6 71 --- --- --- --- PASS UNC93A 54346 broad.mit.edu 37 6 167728874 167728874 + Silent SNP G A A rs147514798 TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr6:167728874G>A uc003qvq.2 + 8 1483 c.1308G>A c.(1306-1308)CCG>CCA p.P436P UNC93A_uc003qvr.2_Silent_p.P394P NM_018974 NP_061847 Q86WB7 UN93A_HUMAN unc-93 homolog A isoform 1 436 integral to membrane|plasma membrane 0 Breast(66;7.62e-05)|Ovarian(120;0.105) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) CCAAGAACCCGATCAGACCCC 0.532 47 371 --- --- --- --- PASS FERD3L 222894 broad.mit.edu 37 7 19184779 19184779 + Silent SNP C A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr7:19184779C>A uc003suo.1 - 1 266 c.207G>T c.(205-207)GTG>GTT p.V69V uc003sun.1_RNA NM_152898 NP_690862 Q96RJ6 FER3L_HUMAN nephew of atonal 3 69 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding large_intestine(1) 1 ccccctggtccacttcgcact 0.373 5 38 --- --- --- --- PASS GRB10 2887 broad.mit.edu 37 7 50671727 50671727 + Missense_Mutation SNP G T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr7:50671727G>T uc003tpi.2 - 14 1543 c.1512C>A c.(1510-1512)CAC>CAA p.H504Q GRB10_uc003tph.3_Missense_Mutation_p.H446Q|GRB10_uc003tpj.2_Missense_Mutation_p.H458Q|GRB10_uc003tpk.2_Missense_Mutation_p.H504Q|GRB10_uc010kzb.2_Missense_Mutation_p.H446Q|GRB10_uc003tpl.2_Missense_Mutation_p.H498Q|GRB10_uc003tpm.2_Missense_Mutation_p.H446Q|GRB10_uc003tpn.2_Missense_Mutation_p.H446Q NM_005311 NP_005302 Q13322 GRB10_HUMAN growth factor receptor-bound protein 10 isoform 504 SH2. insulin receptor signaling pathway|insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway cytosol|plasma membrane insulin receptor binding|insulin receptor binding|SH3/SH2 adaptor activity lung(3)|ovary(2)|upper_aerodigestive_tract(1) 6 Glioma(55;0.08)|all_neural(89;0.245) TAATGATCCTGTGGGATTCCT 0.453 Russell-Silver_syndrome 19 257 --- --- --- --- PASS POM121 9883 broad.mit.edu 37 7 72413633 72413633 + Missense_Mutation SNP C T T rs150818636 byFrequency TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr7:72413633C>T uc003twk.2 + 11 3101 c.3101C>T c.(3100-3102)ACG>ATG p.T1034M POM121_uc003twj.2_Missense_Mutation_p.T769M|POM121_uc010lam.1_Missense_Mutation_p.T769M NM_172020 NP_742017 Q96HA1 P121A_HUMAN nuclear pore membrane protein 121 1034 Pore side (Potential). carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore 0 Lung NSC(55;0.163) GGCGGTGCCACGCACTCGGCG 0.652 13 182 --- --- --- --- PASS TRIM50 135892 broad.mit.edu 37 7 72734219 72734219 + Missense_Mutation SNP G T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr7:72734219G>T uc010lbd.1 - 3 547 c.422C>A c.(421-423)TCT>TAT p.S141Y FKBP6_uc003twz.2_Intron|TRIM50_uc003txy.1_Missense_Mutation_p.S141Y|TRIM50_uc003txz.1_Missense_Mutation_p.S141Y NM_178125 NP_835226 Q86XT4 TRI50_HUMAN tripartite motif protein 50A 141 Potential. cytoplasm|intracellular membrane-bounded organelle ligase activity|zinc ion binding skin(1) 1 CTTCAGCTCAGAGATGAGGGC 0.592 36 179 --- --- --- --- PASS GRM3 2913 broad.mit.edu 37 7 86416062 86416062 + Nonsense_Mutation SNP C A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr7:86416062C>A uc003uid.2 + 3 2053 c.954C>A c.(952-954)TAC>TAA p.Y318* GRM3_uc010lef.2_Nonsense_Mutation_p.Y316*|GRM3_uc010leg.2_Nonsense_Mutation_p.Y190*|GRM3_uc010leh.2_Intron NM_000840 NP_000831 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 precursor 318 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) ATGTGGCCTACGGCGCCATCA 0.667 9 44 --- --- --- --- PASS DBF4 10926 broad.mit.edu 37 7 87536933 87536933 + Missense_Mutation SNP G T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr7:87536933G>T uc003ujf.1 + 12 1984 c.1480G>T c.(1480-1482)GAT>TAT p.D494Y DBF4_uc003ujh.1_Missense_Mutation_p.D234Y|DBF4_uc003ujg.1_Missense_Mutation_p.D270Y|DBF4_uc011khf.1_Missense_Mutation_p.D261Y NM_006716 NP_006707 Q9UBU7 DBF4A_HUMAN activator of S phase kinase 494 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle nucleoplasm enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding lung(2) 2 Esophageal squamous(14;0.00202) Breast(660;0.0334) ACATGTTTCTGATTTCAGTAC 0.353 22 55 --- --- --- --- PASS ZNF804B 219578 broad.mit.edu 37 7 88964364 88964364 + Missense_Mutation SNP G C C TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr7:88964364G>C uc011khi.1 + 4 2606 c.2068G>C c.(2068-2070)GGA>CGA p.G690R NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 690 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) CAAGGTTTCCGGATGTGGAAA 0.453 HNSCC(36;0.09) 4 66 --- --- --- --- PASS SAMD9 54809 broad.mit.edu 37 7 92733667 92733667 + Missense_Mutation SNP T C C TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr7:92733667T>C uc003umf.2 - 3 2000 c.1744A>G c.(1744-1746)ATA>GTA p.I582V SAMD9_uc003umg.2_Missense_Mutation_p.I582V NM_017654 NP_060124 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 582 cytoplasm ovary(3)|skin(2)|breast(1)|central_nervous_system(1) 7 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) CCCTGAAATATGTGTGGGTGC 0.383 12 122 --- --- --- --- PASS MUC17 140453 broad.mit.edu 37 7 100679806 100679806 + Silent SNP C A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr7:100679806C>A uc003uxp.1 + 3 5162 c.5109C>A c.(5107-5109)GCC>GCA p.A1703A MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 1703 Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|26. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) CACCGGTGGCCAGCTCTGCAA 0.478 104 279 --- --- --- --- PASS RELN 5649 broad.mit.edu 37 7 103202279 103202279 + Missense_Mutation SNP A G G TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr7:103202279A>G uc003vca.2 - 35 5492 c.5332T>C c.(5332-5334)TGT>CGT p.C1778R RELN_uc010liz.2_Missense_Mutation_p.C1778R NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 1778 EGF-like 4. axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CCAGCATCACAAATCCCTCGT 0.443 8 77 --- --- --- --- PASS RINT1 60561 broad.mit.edu 37 7 105192040 105192040 + Missense_Mutation SNP A G G TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr7:105192040A>G uc003vda.1 + 10 1588 c.1357A>G c.(1357-1359)ATG>GTG p.M453V RINT1_uc010ljj.1_Missense_Mutation_p.M28V NM_021930 NP_068749 Q6NUQ1 RINT1_HUMAN RAD50 interactor 1 453 RINT1/TIP20. 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 AATGGACTCAATGCTTTCCTC 0.353 22 63 --- --- --- --- PASS LAMB1 3912 broad.mit.edu 37 7 107600135 107600135 + Splice_Site SNP C T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr7:107600135C>T uc003vew.2 - 19 2793 c.2458_splice c.e19+1 p.P820_splice LAMB1_uc003vev.2_Splice_Site_p.P844_splice|LAMB1_uc003vex.2_Missense_Mutation_p.R820H NM_002291 NP_002282 P07942 LAMB1_HUMAN laminin, beta 1 precursor axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 8 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GAGGAACCTACGTTTGCATCC 0.527 10 95 --- --- --- --- PASS PPP1R3A 5506 broad.mit.edu 37 7 113519426 113519426 + Missense_Mutation SNP G T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr7:113519426G>T uc010ljy.1 - 4 1752 c.1721C>A c.(1720-1722)ACC>AAC p.T574N NM_002711 NP_002702 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory (inhibitor) 574 glycogen metabolic process integral to membrane lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1) 34 GATTGCCCGGGTGGGGATTGC 0.478 45 137 --- --- --- --- PASS TFEC 22797 broad.mit.edu 37 7 115596774 115596774 + Missense_Mutation SNP G A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr7:115596774G>A uc003vhj.1 - 4 525 c.341C>T c.(340-342)GCT>GTT p.A114V TFEC_uc003vhk.1_Missense_Mutation_p.A85V|TFEC_uc003vhl.3_Missense_Mutation_p.A85V|TFEC_uc011kmw.1_Missense_Mutation_p.A204V|TFEC_uc003vhm.1_RNA NM_012252 NP_036384 O14948 TFEC_HUMAN transcription factor EC isoform a 114 Necessary for transcriptional transactivation. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity large_intestine(1) 1 STAD - Stomach adenocarcinoma(10;0.00878) TGGACAAGAAGCACTTGTAAG 0.323 6 71 --- --- --- --- PASS KCND2 3751 broad.mit.edu 37 7 119915193 119915193 + Missense_Mutation SNP G C C TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr7:119915193G>C uc003vjj.1 + 1 1472 c.507G>C c.(505-507)CAG>CAC p.Q169H NM_012281 NP_036413 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related 169 Cytoplasmic (Potential). regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding ovary(2)|central_nervous_system(2)|skin(1) 5 all_neural(327;0.117) CTGCAAGGCAGAGGGTCTGGA 0.612 26 98 --- --- --- --- PASS SPAM1 6677 broad.mit.edu 37 7 123594517 123594517 + Missense_Mutation SNP T A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr7:123594517T>A uc003vld.2 + 4 1295 c.893T>A c.(892-894)CTT>CAT p.L298H SPAM1_uc003vle.2_Missense_Mutation_p.L298H|SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vlf.3_Missense_Mutation_p.L298H|SPAM1_uc010lku.2_Missense_Mutation_p.L298H NM_153189 NP_694859 P38567 HYALP_HUMAN sperm adhesion molecule 1 isoform 2 298 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity ovary(3)|kidney(1) 4 Hyaluronidase(DB00070) AAAAGTCCACTTCCGGTTTTT 0.413 14 72 --- --- --- --- PASS PAX4 5078 broad.mit.edu 37 7 127251692 127251692 + Silent SNP G A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr7:127251692G>A uc010lld.1 - 8 992 c.786C>T c.(784-786)GCC>GCT p.A262A PAX4_uc003vmf.2_Silent_p.A260A|PAX4_uc003vmg.1_Silent_p.A262A NM_006193 NP_006184 O43316 PAX4_HUMAN paired box 4 270 cell differentiation|endocrine pancreas development|organ morphogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 GTGGTTCCAGGGCAGGCAGGG 0.562 59 145 --- --- --- --- PASS FLNC 2318 broad.mit.edu 37 7 128484996 128484996 + Silent SNP G T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr7:128484996G>T uc003vnz.3 + 21 3686 c.3477G>T c.(3475-3477)CGG>CGT p.R1159R FLNC_uc003voa.3_Silent_p.R1159R NM_001458 NP_001449 Q14315 FLNC_HUMAN gamma filamin isoform a 1159 Filamin 10. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1) 12 GCAAGGTGCGGGCCAGTGGAC 0.632 12 95 --- --- --- --- PASS FAM40B 57464 broad.mit.edu 37 7 129095154 129095154 + Missense_Mutation SNP G T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr7:129095154G>T uc011koy.1 + 8 816 c.776G>T c.(775-777)GGC>GTC p.G259V FAM40B_uc003vow.2_Missense_Mutation_p.G259V|FAM40B_uc011koz.1_5'Flank NM_020704 NP_065755 Q9ULQ0 FA40B_HUMAN hypothetical protein LOC57464 isoform a 259 0 TTCTGCAGTGGCCTGGCTCCT 0.512 36 187 --- --- --- --- PASS CNOT4 4850 broad.mit.edu 37 7 135047693 135047693 + Missense_Mutation SNP G A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr7:135047693G>A uc011kpy.1 - 11 2178 c.2086C>T c.(2086-2088)CCC>TCC p.P696S CNOT4_uc003vss.2_Missense_Mutation_p.P622S|CNOT4_uc011kpz.1_Missense_Mutation_p.P693S|CNOT4_uc003vst.2_Missense_Mutation_p.P625S NM_001008225 NP_001008226 O95628 CNOT4_HUMAN CCR4-NOT transcription complex, subunit 4 365 nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding 0 TTGCTGGGGGGTCTGAAGGCT 0.537 9 381 --- --- --- --- PASS EZH2 2146 broad.mit.edu 37 7 148515074 148515074 + Missense_Mutation SNP C G G rs144316514 TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr7:148515074C>G uc003wfd.1 - 10 1286 c.1120G>C c.(1120-1122)GAA>CAA p.E374Q EZH2_uc011kug.1_Missense_Mutation_p.E365Q|EZH2_uc003wfb.1_Missense_Mutation_p.E379Q|EZH2_uc003wfc.1_Missense_Mutation_p.E335Q|EZH2_uc011kuh.1_Missense_Mutation_p.E365Q|EZH2_uc011kui.1_Missense_Mutation_p.E374Q|EZH2_uc011kuj.1_RNA NM_004456 NP_004447 Q15910 EZH2_HUMAN enhancer of zeste 2 isoform a 374 negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex DNA binding|histone-lysine N-methyltransferase activity|protein binding p.T374fs*3(1) haematopoietic_and_lymphoid_tissue(180)|skin(2)|large_intestine(1) 183 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00239) TCCTTTGATTCCAGCACATTA 0.502 Mis DLBCL 12 160 --- --- --- --- PASS GIMAP8 155038 broad.mit.edu 37 7 150174540 150174540 + Missense_Mutation SNP C G G rs148200096 byFrequency TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr7:150174540C>G uc003whj.2 + 5 2000 c.1670C>G c.(1669-1671)ACG>AGG p.T557R NM_175571 NP_783161 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 557 endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) GCAGACTTTACGAAATACGCG 0.498 33 116 --- --- --- --- PASS NOS3 4846 broad.mit.edu 37 7 150696174 150696174 + Splice_Site SNP G T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr7:150696174G>T uc003wif.2 + 8 1252 c.956_splice c.e8+1 p.T319_splice NOS3_uc011kuy.1_Splice_Site_p.T113_splice|NOS3_uc011kuz.1_Splice_Site_p.T319_splice|NOS3_uc011kva.1_Splice_Site_p.T319_splice|NOS3_uc011kvb.1_Splice_Site_p.T319_splice NM_000603 NP_000594 P29474 NOS3_HUMAN nitric oxide synthase 3 isoform 1 anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia caveola|cytoskeleton|cytosol|Golgi membrane actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding central_nervous_system(5)|large_intestine(2)|skin(1) 8 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360) AGCACCCCACGTGAGCACCAA 0.652 81 252 --- --- --- --- PASS GBX1 2636 broad.mit.edu 37 7 150864214 150864214 + Missense_Mutation SNP C A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr7:150864214C>A uc011kvg.1 - 1 654 c.422G>T c.(421-423)GGC>GTC p.G141V NM_001098834 NP_001092304 Q14549 GBX1_HUMAN gastrulation brain homeo box 1 141 Pro-rich. nuclear chromosome sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 OV - Ovarian serous cystadenocarcinoma(82;0.00989) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TGGGCGTCGGCCGCCTGGCTC 0.562 8 38 --- --- --- --- PASS WDR60 55112 broad.mit.edu 37 7 158738313 158738313 + Missense_Mutation SNP G C C TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr7:158738313G>C uc003woe.3 + 25 3202 c.3044G>C c.(3043-3045)GGT>GCT p.G1015A WDR60_uc010lqv.2_RNA|WDR60_uc010lqw.2_Missense_Mutation_p.G647A NM_018051 NP_060521 Q8WVS4 WDR60_HUMAN WD repeat domain 60 1015 ovary(2)|breast(1)|central_nervous_system(1) 4 Ovarian(565;0.152) all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18) GAGAAGGCTGGTGGCAGCTTC 0.657 5 11 --- --- --- --- PASS MYOM2 9172 broad.mit.edu 37 8 2041864 2041864 + Missense_Mutation SNP G C C TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr8:2041864G>C uc003wpx.3 + 17 2209 c.2071G>C c.(2071-2073)GGG>CGG p.G691R MYOM2_uc011kwi.1_Missense_Mutation_p.G116R NM_003970 NP_003961 P54296 MYOM2_HUMAN myomesin 2 691 Fibronectin type-III 3. muscle contraction myosin filament structural constituent of muscle ovary(4)|central_nervous_system(1)|skin(1) 6 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) CAATGCTGTGGGGATGAGTGA 0.532 15 87 --- --- --- --- PASS ADAM18 8749 broad.mit.edu 37 8 39442156 39442156 + Silent SNP C A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr8:39442156C>A uc003xni.2 + 1 15 c.15C>A c.(13-15)CTC>CTA p.L5L ADAM18_uc003xnh.2_Silent_p.L5L|ADAM18_uc010lww.2_RNA|ADAM18_uc010lwx.2_Silent_p.L5L NM_014237 NP_055052 Q9Y3Q7 ADA18_HUMAN a disintegrin and metalloprotease domain 18 5 cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)|kidney(1)|skin(1) 6 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) TCCTTCTCCTCGCCCTCCTCA 0.607 14 135 --- --- --- --- PASS ADAM2 2515 broad.mit.edu 37 8 39645623 39645623 + Missense_Mutation SNP C T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr8:39645623C>T uc003xnj.2 - 9 865 c.790G>A c.(790-792)GAT>AAT p.D264N ADAM2_uc003xnk.2_Missense_Mutation_p.D245N|ADAM2_uc011lck.1_Missense_Mutation_p.D264N|ADAM2_uc003xnl.2_Intron NM_001464 NP_001455 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 proprotein 264 Extracellular (Potential).|Peptidase M12B. 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) AATGCCACATCATGAGGACGT 0.294 9 85 --- --- --- --- PASS SNAI2 6591 broad.mit.edu 37 8 49832952 49832952 + Missense_Mutation SNP G T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr8:49832952G>T uc003xqp.2 - 2 292 c.128C>A c.(127-129)CCA>CAA p.P43Q NM_003068 NP_003059 O43623 SNAI2_HUMAN snail 2 43 canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502) CTCTGGTTGTGGTATGACAGG 0.473 37 200 --- --- --- --- PASS TOX 9760 broad.mit.edu 37 8 59750744 59750744 + Missense_Mutation SNP C T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr8:59750744C>T uc003xtw.1 - 5 1041 c.820G>A c.(820-822)GAT>AAT p.D274N NM_014729 NP_055544 O94900 TOX_HUMAN thymus high mobility group box protein TOX 274 HMG box. nucleus DNA binding kidney(2)|lung(1)|skin(1) 4 all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607) GCCTGAGTATCACGAAAGAAT 0.458 20 73 --- --- --- --- PASS CHD7 55636 broad.mit.edu 37 8 61707581 61707581 + Silent SNP G A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr8:61707581G>A uc003xue.2 + 4 2610 c.2133G>A c.(2131-2133)AAG>AAA p.K711K NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 711 Lys-rich. central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity p.556_871dup(1) ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1) 9 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) GTGCTTTGAAGAAAAAGGTCA 0.398 8 76 --- --- --- --- PASS MYBL1 4603 broad.mit.edu 37 8 67479191 67479191 + Missense_Mutation SNP C G G TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr8:67479191C>G uc003xwj.2 - 13 2172 c.1765G>C c.(1765-1767)GAA>CAA p.E589Q MYBL1_uc003xwl.2_Missense_Mutation_p.E589Q|MYBL1_uc003xwk.2_Missense_Mutation_p.E588Q NM_001080416 NP_001073885 P10243 MYBA_HUMAN v-myb myeloblastosis viral oncogene homolog 589 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(2)|pancreas(1) 3 Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938) TTTAAAACTTCCCGAATATCT 0.333 8 67 --- --- --- --- PASS ZNF704 619279 broad.mit.edu 37 8 81555279 81555279 + Missense_Mutation SNP A C C TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr8:81555279A>C uc003yby.1 - 8 1350 c.1118T>G c.(1117-1119)GTC>GGC p.V373G NM_001033723 NP_001028895 Q6ZNC4 ZN704_HUMAN zinc finger protein 704 373 intracellular zinc ion binding 0 all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06) BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277) CCTTAAGCTGACTGTGCCTCT 0.512 9 71 --- --- --- --- PASS LRP12 29967 broad.mit.edu 37 8 105507409 105507409 + Missense_Mutation SNP C T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr8:105507409C>T uc003yma.2 - 6 1704 c.1609G>A c.(1609-1611)GAA>AAA p.E537K LRP12_uc003ymb.2_Missense_Mutation_p.E518K|LRP12_uc003ylz.2_5'UTR NM_013437 NP_038465 Q9Y561 LRP12_HUMAN low density lipoprotein-related protein 12 537 Cytoplasmic (Potential). endocytosis|regulation of growth coated pit|integral to plasma membrane low-density lipoprotein receptor activity|protein binding 0 OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229) AATTCTGCTTCCACTCTTGAC 0.368 8 84 --- --- --- --- PASS ZFPM2 23414 broad.mit.edu 37 8 106814000 106814000 + Missense_Mutation SNP C G G TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr8:106814000C>G uc003ymd.2 + 8 1713 c.1690C>G c.(1690-1692)CTA>GTA p.L564V ZFPM2_uc011lhs.1_Missense_Mutation_p.L295V NM_012082 NP_036214 Q8WW38 FOG2_HUMAN zinc finger protein, multitype 2 564 C2HC-type 2. blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding ovary(4)|large_intestine(1) 5 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) GGATAATTATCTAGTGCACAA 0.453 23 162 --- --- --- --- PASS ZFPM2 23414 broad.mit.edu 37 8 106814360 106814360 + Missense_Mutation SNP C A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr8:106814360C>A uc003ymd.2 + 8 2073 c.2050C>A c.(2050-2052)CCA>ACA p.P684T ZFPM2_uc011lhs.1_Missense_Mutation_p.P415T NM_012082 NP_036214 Q8WW38 FOG2_HUMAN zinc finger protein, multitype 2 684 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding ovary(4)|large_intestine(1) 5 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) GGAAAGTGACCCAAATAAGAC 0.453 8 39 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113301660 113301660 + Silent SNP A G G TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr8:113301660A>G uc003ynu.2 - 57 9241 c.9082T>C c.(9082-9084)TTA>CTA p.L3028L CSMD3_uc003yns.2_Silent_p.L2230L|CSMD3_uc003ynt.2_Silent_p.L2988L|CSMD3_uc011lhx.1_Silent_p.L2859L NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3028 Sushi 21.|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 GACTGGCCTAAAAGGGAACGC 0.473 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 27 125 --- --- --- --- PASS ZHX2 22882 broad.mit.edu 37 8 123964389 123964389 + Silent SNP A G G TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr8:123964389A>G uc003ypk.1 + 3 1206 c.639A>G c.(637-639)GAA>GAG p.E213E NM_014943 NP_055758 Q9Y6X8 ZHX2_HUMAN zinc fingers and homeoboxes 2 213 Required for homodimerization. cytoplasm|nucleus|plasma membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105) STAD - Stomach adenocarcinoma(47;0.00527) ACCACGTGGAAGGGACCGCCC 0.582 32 147 --- --- --- --- PASS PTP4A3 11156 broad.mit.edu 37 8 142437157 142437157 + Missense_Mutation SNP C A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr8:142437157C>A uc003ywg.1 + 3 651 c.317C>A c.(316-318)GCG>GAG p.A106E PTP4A3_uc003ywh.1_Missense_Mutation_p.A106E|PTP4A3_uc010met.1_Intron NM_032611 NP_116000 O75365 TP4A3_HUMAN protein tyrosine phosphatase type IVA, member 3 106 Tyrosine-protein phosphatase. early endosome|plasma membrane identical protein binding|prenylated protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity 0 all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0474) CACTGCGTGGCGGGCCTGGGC 0.677 30 123 --- --- --- --- PASS KCNV2 169522 broad.mit.edu 37 9 2718960 2718960 + Nonsense_Mutation SNP C A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr9:2718960C>A uc003zho.1 + 1 1435 c.1221C>A c.(1219-1221)TGC>TGA p.C407* NM_133497 NP_598004 Q8TDN2 KCNV2_HUMAN potassium channel, subfamily V, member 2 407 Cytoplasmic (Potential). voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(1)|central_nervous_system(1) 2 GBM - Glioblastoma multiforme(50;0.0257) TGCGCCAGTGCTACCAGCAGG 0.622 17 47 --- --- --- --- PASS ADAMTSL1 92949 broad.mit.edu 37 9 18474278 18474278 + Silent SNP G T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr9:18474278G>T uc003zne.3 + 1 175 c.48G>T c.(46-48)CTG>CTT p.L16L ADAMTSL1_uc003znb.2_Silent_p.L16L|ADAMTSL1_uc003znc.3_Silent_p.L16L NM_001040272 NP_001035362 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 isoform 4 precursor 16 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(3)|upper_aerodigestive_tract(1)|lung(1) 5 GBM - Glioblastoma multiforme(50;1.29e-17) TCCTCTTTCTGGCTTTCCTGC 0.443 14 124 --- --- --- --- PASS ADAMTSL1 92949 broad.mit.edu 37 9 18776954 18776954 + Silent SNP C T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr9:18776954C>T uc003zne.3 + 19 2854 c.2727C>T c.(2725-2727)ATC>ATT p.I909I NM_001040272 NP_001035362 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 isoform 4 precursor 909 Ig-like C2-type 1. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(3)|upper_aerodigestive_tract(1)|lung(1) 5 GBM - Glioblastoma multiforme(50;1.29e-17) AGCCCCTCATCACCTGGGAGA 0.672 15 53 --- --- --- --- PASS TLN1 7094 broad.mit.edu 37 9 35712073 35712073 + Missense_Mutation SNP G A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr9:35712073G>A uc003zxt.2 - 28 3964 c.3610C>T c.(3610-3612)CCT>TCT p.P1204S NM_006289 NP_006280 Q9Y490 TLN1_HUMAN talin 1 1204 axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding lung(7)|breast(3)|ovary(2)|central_nervous_system(1) 13 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) CGCTGGCCAGGTAGGCAGCTG 0.582 8 35 --- --- --- --- PASS FAM74A3 728495 broad.mit.edu 37 9 40716152 40716152 + RNA SNP A G G TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr9:40716152A>G uc010mmk.2 + 1 c.629A>G NR_026801 Homo sapiens family with sequence similarity 74, member A3 (FAM74A3), non-coding RNA. skin(1) 1 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) TGTCCCGGAGAAGACATGGAG 0.493 11 84 --- --- --- --- PASS C9orf79 286234 broad.mit.edu 37 9 90499904 90499904 + Missense_Mutation SNP C A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr9:90499904C>A uc004app.3 + 4 537 c.502C>A c.(502-504)CCA>ACA p.P168T C9orf79_uc004apo.1_Intron NM_178828 NP_849150 Q6ZUB1 CI079_HUMAN chromosome 9 open reading frame 79 168 Pro-rich. integral to membrane ovary(3) 3 CGTGTGTAAACCAGTGCCTGC 0.637 22 114 --- --- --- --- PASS C9orf79 286234 broad.mit.edu 37 9 90503319 90503319 + Missense_Mutation SNP G T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr9:90503319G>T uc004app.3 + 4 3952 c.3917G>T c.(3916-3918)AGG>ATG p.R1306M NM_178828 NP_849150 Q6ZUB1 CI079_HUMAN chromosome 9 open reading frame 79 1306 integral to membrane ovary(3) 3 GGCCCACCAAGGCAGTTTATG 0.587 12 54 --- --- --- --- PASS ECM2 1842 broad.mit.edu 37 9 95274313 95274313 + Missense_Mutation SNP T C C TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr9:95274313T>C uc004ash.2 - 5 1215 c.1150A>G c.(1150-1152)ATA>GTA p.I384V CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron|ECM2_uc004asf.3_Missense_Mutation_p.I362V|ECM2_uc011lty.1_Missense_Mutation_p.I384V|ECM2_uc004asg.2_Missense_Mutation_p.I362V NM_001393 NP_001384 O94769 ECM2_HUMAN extracellular matrix protein 2 precursor 384 LRR 1. cell-matrix adhesion integrin binding ovary(1)|skin(1) 2 TTTGGACCTATGCCTGAAGAA 0.408 13 69 --- --- --- --- PASS FGD3 89846 broad.mit.edu 37 9 95797812 95797812 + Missense_Mutation SNP G T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr9:95797812G>T uc004asw.2 + 18 2747 c.2119G>T c.(2119-2121)GCC>TCC p.A707S FGD3_uc004asx.2_Missense_Mutation_p.A706S|FGD3_uc004asz.2_Missense_Mutation_p.A707S|FGD3_uc011luc.1_Missense_Mutation_p.A310S NM_001083536 NP_001077005 Q5JSP0 FGD3_HUMAN FYVE, RhoGEF and PH domain containing 3 707 actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(1)|breast(1) 2 TGGGGACACGGCCCAGGACAG 0.662 14 62 --- --- --- --- PASS CORO2A 7464 broad.mit.edu 37 9 100888860 100888860 + Missense_Mutation SNP C T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr9:100888860C>T uc004ayl.2 - 11 1683 c.1417G>A c.(1417-1419)GAA>AAA p.E473K CORO2A_uc004aym.2_Missense_Mutation_p.E473K|CORO2A_uc004ayk.2_Missense_Mutation_p.E120K NM_003389 NP_003380 Q92828 COR2A_HUMAN coronin, actin binding protein, 2A 473 actin cytoskeleton organization|intracellular signal transduction actin cytoskeleton|transcriptional repressor complex actin filament binding p.E473D(1) skin(2)|ovary(1)|pancreas(1) 4 Acute lymphoblastic leukemia(62;0.0559) GGGGGGCATTCGAAAACGTCA 0.567 29 202 --- --- --- --- PASS ZNF462 58499 broad.mit.edu 37 9 109690746 109690746 + Missense_Mutation SNP G T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr9:109690746G>T uc004bcz.2 + 3 4842 c.4553G>T c.(4552-4554)AGG>ATG p.R1518M ZNF462_uc010mto.2_Missense_Mutation_p.R1366M|ZNF462_uc004bda.2_Missense_Mutation_p.R1366M NM_021224 NP_067047 Q96JM2 ZN462_HUMAN zinc finger protein 462 1518 C2H2-type 13. transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(5) 5 TACAAATGCAGGCATTGCCCA 0.542 14 56 --- --- --- --- PASS AMBP 259 broad.mit.edu 37 9 116836319 116836319 + Missense_Mutation SNP A G G TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr9:116836319A>G uc004bie.3 - 4 714 c.451T>C c.(451-453)TAC>CAC p.Y151H AMBP_uc011lxk.1_Missense_Mutation_p.Y92H|AMBP_uc010mvc.1_RNA NM_001633 NP_001624 P02760 AMBP_HUMAN alpha-1-microglobulin/bikunin preproprotein 151 cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage extracellular region|plasma membrane calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity skin(1) 1 Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064) CCTTTACCGTAGAGCTTGGCA 0.473 7 78 --- --- --- --- PASS TNC 3371 broad.mit.edu 37 9 117827163 117827163 + Missense_Mutation SNP C G G TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr9:117827163C>G uc004bjj.3 - 11 3612 c.3250G>C c.(3250-3252)GAG>CAG p.E1084Q TNC_uc010mvf.2_Missense_Mutation_p.E1084Q NM_002160 NP_002151 P24821 TENA_HUMAN tenascin C precursor 1084 Fibronectin type-III 6. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1) 7 CAGCCAACCTCAGTCACGGTG 0.517 17 98 --- --- --- --- PASS CERCAM 51148 broad.mit.edu 37 9 131191110 131191110 + Missense_Mutation SNP G A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr9:131191110G>A uc004buz.3 + 7 1359 c.961G>A c.(961-963)GAG>AAG p.E321K CERCAM_uc004buy.1_Missense_Mutation_p.E243K|CERCAM_uc010mxz.2_Missense_Mutation_p.E243K|CERCAM_uc010mya.1_Missense_Mutation_p.E162K NM_016174 NP_057258 Q5T4B2 GT253_HUMAN cerebral endothelial cell adhesion molecule 1 321 cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process endoplasmic reticulum lumen|plasma membrane pancreas(1) 1 AGGGTTTGACGAGGTAAGTCC 0.637 10 64 --- --- --- --- PASS FCN1 2219 broad.mit.edu 37 9 137809684 137809684 + Missense_Mutation SNP G A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr9:137809684G>A uc004cfi.2 - 1 126 c.34C>T c.(34-36)CTC>TTC p.L12F NM_002003 NP_001994 O00602 FCN1_HUMAN ficolin 1 precursor 12 opsonization|signal transduction collagen|extracellular space antigen binding|calcium ion binding|receptor binding|sugar binding large_intestine(1)|ovary(1) 2 Myeloproliferative disorder(178;0.0333) OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07) AGGACAGCGAGCCCCCGGGCC 0.587 28 121 --- --- --- --- PASS RBP3 5949 broad.mit.edu 37 10 48389526 48389526 + Missense_Mutation SNP G C C TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr10:48389526G>C uc001jez.2 - 1 1466 c.1352C>G c.(1351-1353)TCC>TGC p.S451C NM_002900 NP_002891 P10745 RET3_HUMAN retinol-binding protein 3 precursor 451 4 X approximate tandem repeats.|2. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity large_intestine(1)|central_nervous_system(1) 2 Vitamin A(DB00162) ACCCAGGACGGAGGCGTCAGC 0.622 5 40 --- --- --- --- PASS PCDH15 65217 broad.mit.edu 37 10 55721612 55721612 + Missense_Mutation SNP A G G TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr10:55721612A>G uc001jju.1 - 22 3304 c.2909T>C c.(2908-2910)GTA>GCA p.V970A PCDH15_uc010qhq.1_Missense_Mutation_p.V975A|PCDH15_uc010qhr.1_Missense_Mutation_p.V970A|PCDH15_uc010qhs.1_Missense_Mutation_p.V982A|PCDH15_uc010qht.1_Missense_Mutation_p.V977A|PCDH15_uc010qhu.1_Missense_Mutation_p.V970A|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.V970A|PCDH15_uc010qhw.1_Missense_Mutation_p.V933A|PCDH15_uc010qhx.1_Missense_Mutation_p.V899A|PCDH15_uc010qhy.1_Missense_Mutation_p.V975A|PCDH15_uc010qhz.1_Missense_Mutation_p.V970A|PCDH15_uc010qia.1_Missense_Mutation_p.V948A|PCDH15_uc010qib.1_Missense_Mutation_p.V948A NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 970 Extracellular (Potential).|Cadherin 9. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) AGGAAACTGTACATCATCTAC 0.328 HNSCC(58;0.16) 11 79 --- --- --- --- PASS DDX50 79009 broad.mit.edu 37 10 70695820 70695820 + Missense_Mutation SNP G T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr10:70695820G>T uc001jou.2 + 11 1687 c.1580G>T c.(1579-1581)AGC>ATC p.S527I DDX50_uc010qjc.1_Missense_Mutation_p.S527I NM_024045 NP_076950 Q9BQ39 DDX50_HUMAN nucleolar protein GU2 527 nucleolus ATP binding|ATP-dependent helicase activity|RNA binding p.S527S(1) ovary(1) 1 AAATCTAAAAGCATGGATGCC 0.328 4 47 --- --- --- --- PASS SFTPA2 729238 broad.mit.edu 37 10 81317074 81317074 + Missense_Mutation SNP C A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr10:81317074C>A uc001kal.3 - 6 735 c.638G>T c.(637-639)CGA>CTA p.R213L SFTPA2_uc001kan.3_Missense_Mutation_p.R213L NM_006926 NP_008857 Q8IWL1 SFPA2_HUMAN RecName: Full=Pulmonary surfactant-associated protein A2; Short=SP-A2; Short=SP-A; Short=PSP-A; Short=PSPA; AltName: Full=Alveolar proteinosis protein; AltName: Full=35 kDa pulmonary surfactant-associated protein; Flags: Precursor; 213 C-type lectin. cell junction assembly|respiratory gaseous exchange collagen|extracellular space sugar binding 0 all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149) Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229) AGGCTCCCCTCGGTACCAGTT 0.547 Pulmonary_Fibrosis_Idiopathic 67 261 --- --- --- --- PASS LRIT2 340745 broad.mit.edu 37 10 85981835 85981835 + Silent SNP G A A rs140185624 byFrequency TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr10:85981835G>A uc001kcy.2 - 3 1502 c.1494C>T c.(1492-1494)CGC>CGT p.R498R LRIT2_uc010qmc.1_Silent_p.R508R NM_001017924 NP_001017924 A6NDA9 LRIT2_HUMAN leucine rich repeat containing 22 precursor 498 integral to membrane ovary(2) 2 GAAGACAGCCGCGCAGGACCC 0.632 23 90 --- --- --- --- PASS DPCD 25911 broad.mit.edu 37 10 103354462 103354462 + Missense_Mutation SNP G C C TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr10:103354462G>C uc001ktn.2 + 2 117 c.112G>C c.(112-114)GAA>CAA p.E38Q NM_015448 NP_056263 Q9BVM2 DPCD_HUMAN DPCD protein 38 protein binding skin(1) 1 GGAAATGGCTGAAGAATATGA 0.473 21 81 --- --- --- --- PASS PNLIPRP1 5407 broad.mit.edu 37 10 118354352 118354352 + Silent SNP G T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr10:118354352G>T uc001lco.1 + 5 459 c.441G>T c.(439-441)GTG>GTT p.V147V PNLIPRP1_uc001lcp.2_Silent_p.V147V|PNLIPRP1_uc009xys.1_RNA NM_006229 NP_006220 P54315 LIPR1_HUMAN pancreatic lipase-related protein 1 precursor 147 lipid metabolic process calcium ion binding|triglyceride lipase activity ovary(1)|breast(1) 2 all cancers(201;0.0161) GCGCCCAGGTGGCCCAGATGC 0.597 5 51 --- --- --- --- PASS PNLIPRP1 5407 broad.mit.edu 37 10 118354353 118354353 + Missense_Mutation SNP G T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr10:118354353G>T uc001lco.1 + 5 460 c.442G>T c.(442-444)GCC>TCC p.A148S PNLIPRP1_uc001lcp.2_Missense_Mutation_p.A148S|PNLIPRP1_uc009xys.1_RNA NM_006229 NP_006220 P54315 LIPR1_HUMAN pancreatic lipase-related protein 1 precursor 148 lipid metabolic process calcium ion binding|triglyceride lipase activity ovary(1)|breast(1) 2 all cancers(201;0.0161) CGCCCAGGTGGCCCAGATGCT 0.602 5 49 --- --- --- --- PASS DPYSL4 10570 broad.mit.edu 37 10 134008372 134008372 + Missense_Mutation SNP G A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr10:134008372G>A uc009ybb.2 + 4 491 c.337G>A c.(337-339)GGT>AGT p.G113S NM_006426 NP_006417 O14531 DPYL4_HUMAN dihydropyrimidinase-like 4 113 axon guidance|pyrimidine base catabolic process cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides central_nervous_system(2) 2 all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206) CCCCGACACGGGTGTGAGCCT 0.657 19 80 --- --- --- --- PASS MUC2 4583 broad.mit.edu 37 11 1098686 1098686 + Silent SNP C T T rs56034260 by1000genomes TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr11:1098686C>T uc001lsx.1 + 40 14169 c.14142C>T c.(14140-14142)TAC>TAT p.Y4714Y NM_002457 NP_002448 Q02817 MUC2_HUMAN mucin 2 precursor 4714 inner mucus layer|outer mucus layer protein binding lung(1)|breast(1) 2 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) AGCACTACTACGATGCCTGCG 0.652 6 21 --- --- --- --- PASS OR52I1 390037 broad.mit.edu 37 11 4615724 4615724 + Silent SNP C T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr11:4615724C>T uc010qyi.1 + 1 456 c.456C>T c.(454-456)GTC>GTT p.V152V NM_001005169 NP_001005169 Q8NGK6 O52I1_HUMAN olfactory receptor, family 52, subfamily I, 152 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1) 2 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) GTATGGCCGTCACCATCAGAG 0.483 37 86 --- --- --- --- PASS OR52N5 390075 broad.mit.edu 37 11 5799488 5799488 + Missense_Mutation SNP A C C TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr11:5799488A>C uc010qzn.1 - 1 377 c.377T>G c.(376-378)CTC>CGC p.L126R TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron NM_001001922 NP_001001922 Q8NH56 O52N5_HUMAN olfactory receptor, family 52, subfamily N, 126 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195) TAGAGCCATGAGCATGAGCAC 0.488 9 78 --- --- --- --- PASS TRAF6 7189 broad.mit.edu 37 11 36520129 36520129 + Missense_Mutation SNP C T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr11:36520129C>T uc001mwr.1 - 4 698 c.358G>A c.(358-360)GAC>AAC p.D120N TRAF6_uc001mws.1_Missense_Mutation_p.D120N NM_145803 NP_665802 Q9Y4K3 TRAF6_HUMAN TNF receptor-associated factor 6 120 Interaction with TAX1BP1. activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 all_lung(20;0.211) all_hematologic(20;0.107) GCAAAATTGTCTGGAAATAGT 0.353 18 56 --- --- --- --- PASS NUP160 23279 broad.mit.edu 37 11 47834559 47834559 + Silent SNP G A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr11:47834559G>A uc001ngm.2 - 15 1912 c.1827C>T c.(1825-1827)TGC>TGT p.C609C NUP160_uc009ylw.2_RNA NM_015231 NP_056046 Q12769 NU160_HUMAN nucleoporin 160kDa 609 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding ovary(4)|lung(1)|central_nervous_system(1)|skin(1) 7 TCAGCCGGAGGCATTTTATAA 0.378 9 71 --- --- --- --- PASS PTPRJ 5795 broad.mit.edu 37 11 48149573 48149573 + Silent SNP G C C TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr11:48149573G>C uc001ngp.3 + 7 1690 c.1335G>C c.(1333-1335)CCG>CCC p.P445P PTPRJ_uc001ngo.3_Silent_p.P445P NM_002843 NP_002834 Q12913 PTPRJ_HUMAN protein tyrosine phosphatase, receptor type, J 445 Extracellular (Potential).|Fibronectin type-III 4. contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity breast(3)|kidney(3)|ovary(1)|skin(1) 8 AGGGCACGCCGGGCTTCCTCC 0.602 16 81 --- --- --- --- PASS OR5I1 10798 broad.mit.edu 37 11 55702966 55702966 + Missense_Mutation SNP T C C TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr11:55702966T>C uc010ris.1 - 1 911 c.911A>G c.(910-912)GAG>GGG p.E304G NM_006637 NP_006628 Q13606 OR5I1_HUMAN olfactory receptor, family 5, subfamily I, 304 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 TAGAACTTTCTCAGCTGCATC 0.333 7 33 --- --- --- --- PASS OR5M1 390168 broad.mit.edu 37 11 56380541 56380541 + Silent SNP A G G TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr11:56380541A>G uc001nja.1 - 1 438 c.438T>C c.(436-438)ACT>ACC p.T146T NM_001004740 NP_001004740 Q8NGP8 OR5M1_HUMAN olfactory receptor, family 5, subfamily M, 146 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 TGTAAGGGATAGTGACCAGAC 0.448 12 64 --- --- --- --- PASS OR1S2 219958 broad.mit.edu 37 11 57971606 57971606 + Silent SNP T C C TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr11:57971606T>C uc010rkb.1 - 1 48 c.48A>G c.(46-48)CAA>CAG p.Q16Q NM_001004459 NP_001004459 Q8NGQ3 OR1S2_HUMAN olfactory receptor, family 1, subfamily S, 16 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(21;0.0589) TTTGGTTTTCTTGATGCATAT 0.408 23 74 --- --- --- --- PASS EFEMP2 30008 broad.mit.edu 37 11 65638668 65638668 + Silent SNP G A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr11:65638668G>A uc001ofy.3 - 4 521 c.327C>T c.(325-327)TGC>TGT p.C109C EFEMP2_uc001ofz.2_RNA|EFEMP2_uc001oga.2_Silent_p.C109C NM_016938 NP_058634 O95967 FBLN4_HUMAN EGF-containing fibulin-like extracellular matrix 109 AQHPNPCPP -> VNTQPLPT (in Ref. 2; AAC62108). blood coagulation basement membrane|membrane calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity ovary(1) 1 READ - Rectum adenocarcinoma(159;0.169) AGCCTGGTGGGCAGGGGTTGG 0.652 20 94 --- --- --- --- PASS B3GNT6 192134 broad.mit.edu 37 11 76750770 76750770 + Missense_Mutation SNP G C C TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr11:76750770G>C uc001oxw.2 + 2 263 c.175G>C c.(175-177)GAG>CAG p.E59Q NM_138706 NP_619651 Q6ZMB0 B3GN6_HUMAN UDP-GlcNAc:betaGal 59 Lumenal (Potential). O-glycan processing, core 3 Golgi membrane|integral to membrane beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity|galactosyltransferase activity 0 CGCGGCTGACGAGCCGCCCTC 0.736 4 9 --- --- --- --- PASS KCTD14 65987 broad.mit.edu 37 11 77727937 77727937 + Missense_Mutation SNP C A A rs141944721 byFrequency TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr11:77727937C>A uc001oyw.3 - 2 495 c.470G>T c.(469-471)CGT>CTT p.R157L NM_023930 NP_076419 Q9BQ13 KCD14_HUMAN potassium channel tetramerisation domain 157 voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(2) 2 all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1e-24) GGCTTCTGCACGTGCCAGGCG 0.547 34 109 --- --- --- --- PASS ABCG4 64137 broad.mit.edu 37 11 119024982 119024982 + Missense_Mutation SNP G A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr11:119024982G>A uc001pvs.2 + 4 705 c.369G>A c.(367-369)ATG>ATA p.M123I ABCG4_uc009zar.2_Missense_Mutation_p.M123I NM_022169 NP_071452 Q9H172 ABCG4_HUMAN ATP-binding cassette, subfamily G, member 4 123 Cytoplasmic (Potential).|ABC transporter. cholesterol efflux integral to membrane ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity ovary(2) 2 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) AGTCTGGAATGAAGGGGCAGA 0.547 19 81 --- --- --- --- PASS OR8B12 219858 broad.mit.edu 37 11 124413505 124413505 + Silent SNP A G G TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr11:124413505A>G uc010sam.1 - 1 46 c.46T>C c.(46-48)TTA>CTA p.L16L NM_001005195 NP_001005195 Q8NGG6 OR8BC_HUMAN olfactory receptor, family 8, subfamily B, 16 Extracellular (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) TGGTGGGTTAAGCCTTCGAGG 0.532 14 75 --- --- --- --- PASS NTM 50863 broad.mit.edu 37 11 132082018 132082018 + Missense_Mutation SNP C T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr11:132082018C>T uc001qgp.2 + 3 1167 c.503C>T c.(502-504)ACT>ATT p.T168I NTM_uc001qgm.2_Missense_Mutation_p.T168I|NTM_uc010sch.1_Missense_Mutation_p.T159I|NTM_uc010sci.1_Missense_Mutation_p.T168I|NTM_uc010scj.1_Missense_Mutation_p.T127I|NTM_uc001qgo.2_Missense_Mutation_p.T168I|NTM_uc001qgq.2_Missense_Mutation_p.T168I|NTM_uc001qgr.2_5'UTR NM_016522 NP_057606 Q9P121 NTRI_HUMAN neurotrimin isoform 1 168 Ig-like C2-type 2. cell adhesion|neuron recognition anchored to membrane|plasma membrane ovary(4)|central_nervous_system(1)|skin(1) 6 CCTACGGTTACTTGGAGACAC 0.433 17 50 --- --- --- --- PASS NTM 50863 broad.mit.edu 37 11 132082019 132082019 + Silent SNP T C C TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr11:132082019T>C uc001qgp.2 + 3 1168 c.504T>C c.(502-504)ACT>ACC p.T168T NTM_uc001qgm.2_Silent_p.T168T|NTM_uc010sch.1_Silent_p.T159T|NTM_uc010sci.1_Silent_p.T168T|NTM_uc010scj.1_Silent_p.T127T|NTM_uc001qgo.2_Silent_p.T168T|NTM_uc001qgq.2_Silent_p.T168T|NTM_uc001qgr.2_5'UTR NM_016522 NP_057606 Q9P121 NTRI_HUMAN neurotrimin isoform 1 168 Ig-like C2-type 2. cell adhesion|neuron recognition anchored to membrane|plasma membrane ovary(4)|central_nervous_system(1)|skin(1) 6 CTACGGTTACTTGGAGACACA 0.438 16 50 --- --- --- --- PASS NTM 50863 broad.mit.edu 37 11 132177700 132177700 + Missense_Mutation SNP T G G TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr11:132177700T>G uc001qgp.2 + 4 1308 c.644T>G c.(643-645)GTA>GGA p.V215G NTM_uc001qgm.2_Missense_Mutation_p.V215G|NTM_uc010sch.1_Missense_Mutation_p.V206G|NTM_uc010sci.1_Missense_Mutation_p.V215G|NTM_uc010scj.1_Missense_Mutation_p.V174G|NTM_uc001qgo.2_Missense_Mutation_p.V215G|NTM_uc001qgq.2_Missense_Mutation_p.V215G|NTM_uc001qgr.2_5'UTR NM_016522 NP_057606 Q9P121 NTRI_HUMAN neurotrimin isoform 1 215 Ig-like C2-type 2. cell adhesion|neuron recognition anchored to membrane|plasma membrane ovary(4)|central_nervous_system(1)|skin(1) 6 GTACGGAGAGTAAAGGTCACC 0.587 4 27 --- --- --- --- PASS ANO2 57101 broad.mit.edu 37 12 5687599 5687599 + Silent SNP C T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr12:5687599C>T uc001qnm.2 - 22 2391 c.2319G>A c.(2317-2319)GTG>GTA p.V773V NM_020373 NP_065106 Q9NQ90 ANO2_HUMAN anoctamin 2 778 Cytoplasmic (Potential). chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity ovary(4)|large_intestine(2)|central_nervous_system(1) 7 CATCGAGCCGCACTTCAATGA 0.547 6 41 --- --- --- --- PASS ITPR2 3709 broad.mit.edu 37 12 26781091 26781091 + Missense_Mutation SNP A G G TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr12:26781091A>G uc001rhg.2 - 23 3356 c.2939T>C c.(2938-2940)ATC>ACC p.I980T NM_002223 NP_002214 Q14571 ITPR2_HUMAN inositol 1,4,5-triphosphate receptor, type 2 980 Cytoplasmic (Potential). activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 14 Colorectal(261;0.0847) GACACTCAGGATAAACTATAA 0.353 34 117 --- --- --- --- PASS OSBPL8 114882 broad.mit.edu 37 12 76772316 76772316 + Missense_Mutation SNP C A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr12:76772316C>A uc001sye.1 - 16 2125 c.1645G>T c.(1645-1647)GCA>TCA p.A549S OSBPL8_uc001syf.1_Missense_Mutation_p.A507S|OSBPL8_uc001syg.1_Missense_Mutation_p.A507S|OSBPL8_uc001syh.1_Missense_Mutation_p.A524S NM_020841 NP_065892 Q9BZF1 OSBL8_HUMAN oxysterol-binding protein-like protein 8 isoform 549 lipid transport lipid binding ovary(1) 1 TCTAATATTGCAGATAATGAG 0.254 22 74 --- --- --- --- PASS LIN7A 8825 broad.mit.edu 37 12 81205404 81205404 + Missense_Mutation SNP C A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr12:81205404C>A uc001szj.1 - 5 735 c.542G>T c.(541-543)AGC>ATC p.S181I LIN7A_uc001szk.1_RNA NM_004664 NP_004655 O14910 LIN7A_HUMAN lin-7 homolog A 181 PDZ. exocytosis|protein complex assembly|protein transport basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction L27 domain binding ovary(1)|skin(1) 2 CAGCTTGACGCTGTCTTTAGC 0.488 22 75 --- --- --- --- PASS STAB2 55576 broad.mit.edu 37 12 104014304 104014304 + Missense_Mutation SNP G T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr12:104014304G>T uc001tjw.2 + 4 576 c.390G>T c.(388-390)ATG>ATT p.M130I NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN stabilin 2 precursor 130 Extracellular (Potential).|EGF-like 1. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity ovary(9)|skin(5) 14 CTGAAGGCATGGAAGGAAATG 0.488 4 16 --- --- --- --- PASS STAB2 55576 broad.mit.edu 37 12 104056674 104056674 + Silent SNP C G G TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr12:104056674C>G uc001tjw.2 + 18 2106 c.1920C>G c.(1918-1920)GCC>GCG p.A640A NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN stabilin 2 precursor 640 Extracellular (Potential).|FAS1 2. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity ovary(9)|skin(5) 14 AGATCACTGCCAAAAATGGCC 0.428 19 80 --- --- --- --- PASS UBE3B 89910 broad.mit.edu 37 12 109937553 109937553 + Missense_Mutation SNP G C C TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr12:109937553G>C uc001top.2 + 12 1659 c.1056G>C c.(1054-1056)AAG>AAC p.K352N UBE3B_uc001toq.2_Missense_Mutation_p.K352N|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Missense_Mutation_p.K352N NM_130466 NP_569733 Q7Z3V4 UBE3B_HUMAN ubiquitin protein ligase E3B 352 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity ovary(2)|lung(2) 4 TGTCTCAGAAGAAGTCCAACC 0.537 8 53 --- --- --- --- PASS IFT81 28981 broad.mit.edu 37 12 110565186 110565186 + Missense_Mutation SNP A G G TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr12:110565186A>G uc001tqi.2 + 2 131 c.1A>G c.(1-3)ATG>GTG p.M1V IFT81_uc001tqh.2_Missense_Mutation_p.M1V|IFT81_uc001tqj.2_RNA|IFT81_uc001tqg.2_Missense_Mutation_p.M1V NM_001143779 NP_001137251 Q8WYA0 IFT81_HUMAN intraflagellar transport 81-like isoform 1 1 cell differentiation|multicellular organismal development|spermatogenesis intraflagellar transport particle B|microtubule-based flagellum ovary(1) 1 AGACCTAATTATGAGTGATCA 0.303 2 11 --- --- --- --- PASS NOS1 4842 broad.mit.edu 37 12 117672551 117672551 + Silent SNP G A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr12:117672551G>A uc001twm.1 - 21 3740 c.3054C>T c.(3052-3054)ATC>ATT p.I1018I NM_000620 NP_000611 P29475 NOS1_HUMAN nitric oxide synthase 1, neuronal 1018 FAD-binding FR-type. multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding ovary(3)|skin(3)|pancreas(1) 7 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) GACGCACGAAGATAGTTGACC 0.507 6 45 --- --- --- --- PASS CAMKK2 10645 broad.mit.edu 37 12 121690485 121690485 + Silent SNP T A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr12:121690485T>A uc001tzu.2 - 11 1264 c.1140A>T c.(1138-1140)CTA>CTT p.L380L CAMKK2_uc001tzt.2_Silent_p.L380L|CAMKK2_uc001tzv.2_Silent_p.L380L|CAMKK2_uc001tzw.2_Silent_p.L380L|CAMKK2_uc001tzx.2_Silent_p.L380L|CAMKK2_uc001tzy.2_Silent_p.L380L|CAMKK2_uc001tzz.1_Silent_p.L167L|CAMKK2_uc001uaa.1_Silent_p.L380L|CAMKK2_uc001uab.2_Silent_p.L380L|CAMKK2_uc001uac.2_Silent_p.L380L NM_006549 NP_006540 Q96RR4 KKCC2_HUMAN calcium/calmodulin-dependent protein kinase 380 Protein kinase. calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity cytoplasm ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity lung(1)|large_intestine(1)|stomach(1) 3 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) CAAAGCAGTATAGTGTCACAC 0.517 7 41 --- --- --- --- PASS TMEM132D 121256 broad.mit.edu 37 12 129558726 129558726 + Silent SNP C T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr12:129558726C>T uc009zyl.1 - 9 3322 c.2994G>A c.(2992-2994)GAG>GAA p.E998E TMEM132D_uc001uia.2_Silent_p.E536E NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 998 Cytoplasmic (Potential). integral to membrane ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) ATTTACTTTCCTCGAAATCCA 0.453 27 121 --- --- --- --- PASS EP400 57634 broad.mit.edu 37 12 132502198 132502198 + Missense_Mutation SNP G C C TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr12:132502198G>C uc001ujn.2 + 19 4077 c.4042G>C c.(4042-4044)GTG>CTG p.V1348L EP400_uc001ujl.2_Missense_Mutation_p.V1347L|EP400_uc001ujm.2_Missense_Mutation_p.V1348L NM_015409 NP_056224 Q96L91 EP400_HUMAN E1A binding protein p400 1384 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity central_nervous_system(4)|ovary(3)|breast(3)|skin(2) 12 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) CTCTTCCTACGTGGCGGGGCC 0.592 19 88 --- --- --- --- PASS P2RX2 22953 broad.mit.edu 37 12 133197898 133197898 + Nonsense_Mutation SNP C A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr12:133197898C>A uc001ukj.1 + 9 963 c.963C>A c.(961-963)TAC>TAA p.Y321* P2RX2_uc001uki.1_Nonsense_Mutation_p.Y321*|P2RX2_uc001ukk.1_Nonsense_Mutation_p.Y321*|P2RX2_uc001ukl.1_Nonsense_Mutation_p.Y297*|P2RX2_uc001ukm.1_Nonsense_Mutation_p.Y249*|P2RX2_uc001ukn.1_Nonsense_Mutation_p.Y229*|P2RX2_uc009zyt.1_Nonsense_Mutation_p.Y321*|P2RX2_uc001uko.1_Nonsense_Mutation_p.Y287* NM_170682 NP_733782 Q9UBL9 P2RX2_HUMAN purinergic receptor P2X2 isoform A 321 Pore-forming motif (Potential).|Extracellular (Potential). positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization integral to membrane ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0767) OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06) TCAAGGCCTACGGGATCCGCA 0.612 28 252 --- --- --- --- PASS RCBTB1 55213 broad.mit.edu 37 13 50115118 50115118 + Missense_Mutation SNP T A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr13:50115118T>A uc001vde.1 - 12 1610 c.1349A>T c.(1348-1350)TAC>TTC p.Y450F NM_018191 NP_060661 Q8NDN9 RCBT1_HUMAN regulator of chromosome condensation (RCC1) and 450 cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ovary(1) 1 Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;4.7e-09) GTTTTCACAGTAAGATGTCGC 0.343 11 35 --- --- --- --- PASS DOCK9 23348 broad.mit.edu 37 13 99554117 99554117 + Missense_Mutation SNP A T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr13:99554117A>T uc001vnt.2 - 13 1476 c.1421T>A c.(1420-1422)TTT>TAT p.F474Y DOCK9_uc001vnw.2_Missense_Mutation_p.F473Y|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Missense_Mutation_p.F474Y|DOCK9_uc010tis.1_Missense_Mutation_p.F473Y|DOCK9_uc010tit.1_Missense_Mutation_p.F474Y|DOCK9_uc010afu.1_Missense_Mutation_p.F289Y NM_015296 NP_056111 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 isoform a 474 blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity central_nervous_system(1) 1 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) GGCCACAAGAAATATATCTGG 0.393 3 15 --- --- --- --- PASS OR4Q3 441669 broad.mit.edu 37 14 20216180 20216180 + Silent SNP G T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr14:20216180G>T uc010tkt.1 + 1 594 c.594G>T c.(592-594)GTG>GTT p.V198V NM_172194 NP_751944 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, 198 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3) 3 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TGGTAGAGGTGCTGGTGATAG 0.498 10 70 --- --- --- --- PASS OR11G2 390439 broad.mit.edu 37 14 20665802 20665802 + Missense_Mutation SNP A T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr14:20665802A>T uc010tlb.1 + 1 308 c.308A>T c.(307-309)AAC>ATC p.N103I NM_001005503 NP_001005503 Q8NGC1 O11G2_HUMAN olfactory receptor, family 11, subfamily G, 103 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(95;0.00108) Epithelial(56;9.76e-07)|all cancers(55;5.61e-06) GBM - Glioblastoma multiforme(265;0.0144) CTGCTCGCCAACTTCTCCTTC 0.527 22 103 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 14 22337320 22337320 + Silent SNP C T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr14:22337320C>T uc010tmf.1 + 2 193 c.114C>T c.(112-114)AGC>AGT p.S38S uc001wbw.2_Intron|uc010tmg.1_Intron|uc010tmh.1_Silent_p.S37S|uc001wby.2_Intron SubName: Full=Putative uncharacterized protein ENSP00000374943; AGGGAGACAGCGCTGTTATCA 0.433 36 116 --- --- --- --- PASS LRP10 26020 broad.mit.edu 37 14 23345950 23345950 + Missense_Mutation SNP C G G TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr14:23345950C>G uc001whd.2 + 6 2030 c.1477C>G c.(1477-1479)CCC>GCC p.P493A LRP10_uc001whe.2_Missense_Mutation_p.P369A NM_014045 NP_054764 Q7Z4F1 LRP10_HUMAN low density lipoprotein receptor-related protein 493 Cytoplasmic (Potential). endocytosis coated pit|integral to membrane central_nervous_system(1) 1 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.00549) GCAGCAGGCACCCCCTTCCTA 0.552 20 105 --- --- --- --- PASS HEATR5A 25938 broad.mit.edu 37 14 31852749 31852749 + Missense_Mutation SNP C T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr14:31852749C>T uc001wrf.3 - 4 772 c.695G>A c.(694-696)GGA>GAA p.G232E HEATR5A_uc010ami.2_Missense_Mutation_p.G130E|HEATR5A_uc001wrg.1_Missense_Mutation_p.G114E|HEATR5A_uc010tpk.1_Missense_Mutation_p.G525E NM_015473 NP_056288 Q86XA9 HTR5A_HUMAN HEAT repeat containing 5A 519 binding ovary(1) 1 Hepatocellular(127;0.0877)|Breast(36;0.137) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.0059) ATGAGGAATTCCTAAAGGACA 0.383 28 180 --- --- --- --- PASS MDGA2 161357 broad.mit.edu 37 14 47342674 47342674 + Missense_Mutation SNP C G G TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr14:47342674C>G uc001wwj.3 - 14 2703 c.2507G>C c.(2506-2508)TGT>TCT p.C836S MDGA2_uc001wwh.3_Missense_Mutation_p.C38S|MDGA2_uc001wwi.3_Missense_Mutation_p.C607S|MDGA2_uc010ani.2_Missense_Mutation_p.C396S NM_001113498 NP_001106970 Q7Z553 MDGA2_HUMAN MAM domain containing 1 isoform 1 836 MAM. spinal cord motor neuron differentiation anchored to membrane|plasma membrane ovary(4)|large_intestine(1)|pancreas(1) 6 GAAGCTGAAACAATATGCAGT 0.383 18 109 --- --- --- --- PASS C14orf39 317761 broad.mit.edu 37 14 60921721 60921721 + Missense_Mutation SNP G T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr14:60921721G>T uc001xez.3 - 16 1611 c.1501C>A c.(1501-1503)CAG>AAG p.Q501K C14orf39_uc010apo.2_Missense_Mutation_p.Q212K NM_174978 NP_777638 Q08AQ4 Q08AQ4_HUMAN hypothetical protein LOC317761 501 ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(108;0.0448) CATATTACCTGATCTGATGAG 0.313 10 55 --- --- --- --- PASS SIX4 51804 broad.mit.edu 37 14 61187017 61187017 + Missense_Mutation SNP C G G TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr14:61187017C>G uc001xfc.2 - 2 1010 c.1010G>C c.(1009-1011)GGA>GCA p.G337A SIX4_uc010app.1_Missense_Mutation_p.G329A NM_017420 NP_059116 Q9UIU6 SIX4_HUMAN sine oculis homeobox homolog 4 337 nucleus breast(3)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(108;0.0275) CTTAGCATTTCCAATTTGTTG 0.408 24 95 --- --- --- --- PASS SPTB 6710 broad.mit.edu 37 14 65259873 65259873 + Silent SNP C T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr14:65259873C>T uc001xht.2 - 13 2562 c.2508G>A c.(2506-2508)CAG>CAA p.Q836Q SPTB_uc001xhr.2_Silent_p.Q836Q|SPTB_uc001xhs.2_Silent_p.Q836Q|SPTB_uc001xhu.2_Silent_p.Q836Q NM_000347 NP_000338 P11277 SPTB1_HUMAN spectrin beta isoform b 836 Spectrin 6. actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton ovary(7)|skin(2)|lung(1)|central_nervous_system(1) 11 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) GCAGGTCCGCCTGGGCCACCA 0.632 18 93 --- --- --- --- PASS C14orf174 161394 broad.mit.edu 37 14 77844685 77844685 + Silent SNP T G G TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr14:77844685T>G uc001xtq.1 + 1 924 c.924T>G c.(922-924)ACT>ACG p.T308T TMED8_uc010ast.1_5'Flank|TMED8_uc001xto.1_5'Flank NM_001010860 NP_001010860 Q9P1V8 SAM15_HUMAN hypothetical protein LOC161394 308 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0278) CTGAGCGGACTAAACCAGACT 0.473 9 115 --- --- --- --- PASS NRXN3 9369 broad.mit.edu 37 14 79175927 79175927 + Missense_Mutation SNP T C C TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr14:79175927T>C uc001xun.2 + 4 961 c.470T>C c.(469-471)GTG>GCG p.V157A NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.V291A NM_004796 NP_004787 Q9Y4C0 NRX3A_HUMAN neurexin 3 isoform 1 precursor 530 Extracellular (Potential).|Laminin G-like 3. axon guidance|cell adhesion integral to plasma membrane metal ion binding|receptor activity ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1) 10 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) ACCATCAAAGTGAAAGCCACT 0.502 13 162 --- --- --- --- PASS C14orf102 55051 broad.mit.edu 37 14 90756803 90756803 + Missense_Mutation SNP T C C TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr14:90756803T>C uc001xyi.1 - 10 2022 c.1991A>G c.(1990-1992)AAC>AGC p.N664S C14orf102_uc010atp.1_Missense_Mutation_p.N169S|C14orf102_uc001xyj.1_Missense_Mutation_p.N433S|C14orf102_uc001xyk.1_5'Flank NM_017970 NP_060440 Q9H7Z3 CN102_HUMAN hypothetical protein LOC55051 isoform 1 664 protein binding ovary(2)|lung(1) 3 all_cancers(154;0.118) COAD - Colon adenocarcinoma(157;0.218) AAAGATGCTGTTCTCATCCAT 0.493 5 76 --- --- --- --- PASS SMEK1 55671 broad.mit.edu 37 14 91948452 91948452 + Missense_Mutation SNP G A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr14:91948452G>A uc001xzn.2 - 4 1205 c.383C>T c.(382-384)CCA>CTA p.P128L SMEK1_uc001xzm.2_Missense_Mutation_p.P128L|SMEK1_uc001xzo.2_Missense_Mutation_p.P128L|SMEK1_uc010atz.2_Intron|SMEK1_uc001xzp.1_RNA|SMEK1_uc001xzq.1_Missense_Mutation_p.P4L NM_032560 NP_115949 Q6IN85 P4R3A_HUMAN SMEK homolog 1, suppressor of mek1 128 microtubule organizing center|nucleus protein binding 0 all_cancers(154;0.0691)|all_epithelial(191;0.219) COAD - Colon adenocarcinoma(157;0.221) TTCTAAGCCTGGCGATGACAT 0.423 13 82 --- --- --- --- PASS PPP4R4 57718 broad.mit.edu 37 14 94711944 94711944 + Missense_Mutation SNP T G G TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr14:94711944T>G uc001ycs.1 + 13 1519 c.1365T>G c.(1363-1365)GAT>GAG p.D455E NM_058237 NP_478144 Q6NUP7 PP4R4_HUMAN HEAT-like repeat-containing protein isoform 1 455 cytoplasm|protein serine/threonine phosphatase complex protein binding skin(3)|upper_aerodigestive_tract(1) 4 CTCTTATAGATCATCTTCCAG 0.308 10 54 --- --- --- --- PASS PACS2 23241 broad.mit.edu 37 14 105857562 105857562 + Missense_Mutation SNP G T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr14:105857562G>T uc001yqt.2 + 20 2225 c.2050G>T c.(2050-2052)GTG>TTG p.V684L PACS2_uc001yqs.2_Missense_Mutation_p.V609L|PACS2_uc001yqv.2_Missense_Mutation_p.V688L|PACS2_uc001yqu.2_Missense_Mutation_p.V699L NM_015197 NP_056012 Q86VP3 PACS2_HUMAN phosphofurin acidic cluster sorting protein 2 684 apoptosis|interspecies interaction between organisms endoplasmic reticulum lumen|mitochondrion pancreas(1) 1 all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036) Epithelial(152;0.138) GGTTGGAATTGTGGAGCCATC 0.622 11 39 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106805353 106805353 + RNA SNP C G G TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr14:106805353C>G uc010tyt.1 - 360 c.13855G>C uc001ysw.1_5'Flank Parts of antibodies, mostly variable regions. 0 AATAGATGTACCCAATCCACT 0.537 20 132 --- --- --- --- PASS MKRN3 7681 broad.mit.edu 37 15 23811490 23811490 + Silent SNP A C C TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr15:23811490A>C uc001ywh.3 + 1 1037 c.561A>C c.(559-561)GCA>GCC p.A187A MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Silent_p.A187A NM_005664 NP_005655 Q13064 MKRN3_HUMAN makorin ring finger protein 3 187 ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding lung(6)|large_intestine(2)|ovary(2) 10 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) GAGACAATGCAGACCGTGGAG 0.612 4 46 --- --- --- --- PASS UBE3A 7337 broad.mit.edu 37 15 25585232 25585232 + Missense_Mutation SNP C T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr15:25585232C>T uc001zaq.2 - 10 2507 c.2507G>A c.(2506-2508)AGG>AAG p.R836K uc001zae.2_Intron|UBE3A_uc001zar.2_Missense_Mutation_p.R813K|UBE3A_uc001zas.2_Missense_Mutation_p.R833K|UBE3A_uc001zat.2_Missense_Mutation_p.R813K NM_000462 NP_000453 Q05086 UBE3A_HUMAN ubiquitin protein ligase E3A isoform 2 836 HECT. brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus|proteasome complex protein binding|ubiquitin-protein ligase activity upper_aerodigestive_tract(1)|ovary(1)|breast(1) 3 all_cancers(20;3.47e-21)|Breast(32;0.00123) all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616) AATTACCTACCTTTCTGTGTC 0.408 14 67 --- --- --- --- PASS GABRA5 2558 broad.mit.edu 37 15 27128634 27128634 + Missense_Mutation SNP G C C TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr15:27128634G>C uc001zbd.1 + 7 766 c.427G>C c.(427-429)GCT>CCT p.A143P GABRB3_uc001zbb.2_Intron NM_000810 NP_000801 P31644 GBRA5_HUMAN gamma-aminobutyric acid A receptor, alpha 5 143 Extracellular (Potential). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity ovary(1) 1 all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227) all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) GAAGTCCATCGCTCACAACAT 0.517 12 60 --- --- --- --- PASS C15orf23 90417 broad.mit.edu 37 15 40681810 40681810 + Missense_Mutation SNP C G G TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr15:40681810C>G uc001zll.2 + 5 704 c.589C>G c.(589-591)CAG>GAG p.Q197E C15orf23_uc010ucp.1_Missense_Mutation_p.Q197E|C15orf23_uc001zlo.2_Missense_Mutation_p.Q197E|C15orf23_uc001zlm.2_RNA|C15orf23_uc001zln.2_RNA NM_033286 NP_150628 Q9Y448 T4AF1_HUMAN TRAF4 associated factor 1 isoform a 197 Potential. nucleus protein binding ovary(1)|skin(1) 2 all_cancers(109;2.34e-14)|all_epithelial(112;9.21e-12)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;3.39e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0798) GACTGAAACTCAGGTAAGAGA 0.502 7 25 --- --- --- --- PASS TGM5 9333 broad.mit.edu 37 15 43531095 43531095 + Missense_Mutation SNP G T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr15:43531095G>T uc001zrd.1 - 9 1273 c.1265C>A c.(1264-1266)TCT>TAT p.S422Y TGM5_uc001zrc.1_Missense_Mutation_p.S79Y|TGM5_uc001zre.1_Missense_Mutation_p.S340Y NM_201631 NP_963925 O43548 TGM5_HUMAN transglutaminase 5 isoform 1 422 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) ATTGCCAACAGAACTCGTGTC 0.498 11 49 --- --- --- --- PASS HDC 3067 broad.mit.edu 37 15 50545843 50545843 + Silent SNP G T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr15:50545843G>T uc001zxz.2 - 7 847 c.741C>A c.(739-741)ACC>ACA p.T247T HDC_uc001zxy.2_5'Flank|HDC_uc010uff.1_Silent_p.T247T|HDC_uc010bet.1_Silent_p.T168T NM_002112 NP_002103 P19113 DCHS_HUMAN histidine decarboxylase 247 catecholamine biosynthetic process|histidine metabolic process histidine decarboxylase activity large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 6 all_lung(180;0.0138) all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05) L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114) AGACCCCAGTGGTCCCTAGTG 0.483 6 126 --- --- --- --- PASS HDC 3067 broad.mit.edu 37 15 50545844 50545844 + Missense_Mutation SNP G T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr15:50545844G>T uc001zxz.2 - 7 846 c.740C>A c.(739-741)ACC>AAC p.T247N HDC_uc001zxy.2_5'Flank|HDC_uc010uff.1_Missense_Mutation_p.T247N|HDC_uc010bet.1_Missense_Mutation_p.T168N NM_002112 NP_002103 P19113 DCHS_HUMAN histidine decarboxylase 247 catecholamine biosynthetic process|histidine metabolic process histidine decarboxylase activity large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 6 all_lung(180;0.0138) all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05) L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114) GACCCCAGTGGTCCCTAGTGT 0.488 6 123 --- --- --- --- PASS SLTM 79811 broad.mit.edu 37 15 59224609 59224609 + Missense_Mutation SNP T C C TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr15:59224609T>C uc002afp.2 - 2 284 c.196A>G c.(196-198)ATT>GTT p.I66V SLTM_uc002afo.2_Missense_Mutation_p.I66V|SLTM_uc002afq.2_Translation_Start_Site|SLTM_uc010bgd.2_Intron|SLTM_uc002afr.1_Missense_Mutation_p.I66V NM_024755 NP_079031 Q9NWH9 SLTM_HUMAN modulator of estrogen induced transcription 66 apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding ovary(1) 1 GTTAATTCAATATTATCTGGA 0.294 9 81 --- --- --- --- PASS CILP 8483 broad.mit.edu 37 15 65489148 65489148 + Missense_Mutation SNP C T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr15:65489148C>T uc002aon.2 - 9 3657 c.3476G>A c.(3475-3477)AGC>AAC p.S1159N NM_003613 NP_003604 O75339 CILP1_HUMAN cartilage intermediate layer protein 1159 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix ovary(4)|pancreas(2)|skin(1) 7 GCCACCCCTGCTCGCTCGCTG 0.607 13 55 --- --- --- --- PASS HCN4 10021 broad.mit.edu 37 15 73624626 73624626 + Missense_Mutation SNP T A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr15:73624626T>A uc002avp.2 - 3 2211 c.1217A>T c.(1216-1218)CAC>CTC p.H406L NM_005477 NP_005468 Q9Y3Q4 HCN4_HUMAN hyperpolarization activated cyclic 406 Cytoplasmic (Potential). blood circulation|muscle contraction integral to membrane cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity ovary(5)|liver(1) 6 COAD - Colon adenocarcinoma(1;0.142) GTAGGTCATGTGGAAGATCTG 0.627 7 58 --- --- --- --- PASS CCDC33 80125 broad.mit.edu 37 15 74559107 74559107 + Silent SNP C T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr15:74559107C>T uc002axo.2 + 4 802 c.408C>T c.(406-408)CCC>CCT p.P136P CCDC33_uc002axp.2_5'UTR NM_025055 NP_079331 Q8N5R6 CCD33_HUMAN coiled-coil domain containing 33 isoform 1 339 protein binding ovary(3)|skin(2) 5 TCTTCCACCCCTACCACTTTG 0.532 22 126 --- --- --- --- PASS CRABP1 1381 broad.mit.edu 37 15 78640281 78640281 + Missense_Mutation SNP G A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr15:78640281G>A uc002bdp.2 + 4 481 c.376G>A c.(376-378)GAT>AAT p.D126N NM_004378 NP_004369 P29762 RABP1_HUMAN cellular retinoic acid binding protein 1 126 multicellular organismal development|signal transduction cytoplasm retinal binding|retinol binding|transporter activity 0 Alitretinoin(DB00523)|Etretinate(DB00926) GTTTGGCGCCGATGACGTGGT 0.468 14 79 --- --- --- --- PASS CHRNA5 1138 broad.mit.edu 37 15 78879022 78879022 + Missense_Mutation SNP G T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr15:78879022G>T uc002bdy.2 + 3 456 c.294G>T c.(292-294)TGG>TGT p.W98C CHRNA5_uc002bdz.2_Missense_Mutation_p.W98C NM_000745 NP_000736 P30532 ACHA5_HUMAN cholinergic receptor, nicotinic, alpha 5 98 Extracellular (Potential). behavioral response to nicotine cell junction|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity ovary(1)|central_nervous_system(1)|skin(1) 3 CAAACGTCTGGTTGAAACAGG 0.274 18 162 --- --- --- --- PASS AEN 64782 broad.mit.edu 37 15 89172627 89172627 + Silent SNP G T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr15:89172627G>T uc002bmt.2 + 3 862 c.711G>T c.(709-711)CTG>CTT p.L237L AEN_uc010bnm.1_Silent_p.L237L NM_022767 NP_073604 Q8WTP8 AEN_HUMAN interferon stimulated exonuclease gene 237 Exonuclease. apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|response to ionizing radiation nucleolus|nucleoplasm exonuclease activity|nucleic acid binding 0 TAAAGGACCTGGCCCTGCAGC 0.652 8 109 --- --- --- --- PASS CACNA1H 8912 broad.mit.edu 37 16 1250434 1250434 + Missense_Mutation SNP G A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr16:1250434G>A uc002cks.2 + 7 1230 c.982G>A c.(982-984)GAG>AAG p.E328K CACNA1H_uc002ckt.2_Missense_Mutation_p.E328K NM_021098 NP_066921 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, 328 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) GCCGCAGGCCGAGGGGGTGGG 0.667 5 22 --- --- --- --- PASS ACSM2A 123876 broad.mit.edu 37 16 20476943 20476943 + Silent SNP C T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr16:20476943C>T uc010bwe.2 + 4 521 c.282C>T c.(280-282)GCC>GCT p.A94A ACSM2A_uc010bwd.1_RNA|ACSM2A_uc010vax.1_Silent_p.A15A|ACSM2A_uc002dhf.3_Silent_p.A94A|ACSM2A_uc002dhg.3_Silent_p.A94A|ACSM2A_uc010vay.1_Silent_p.A15A NM_001010845 NP_001010845 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 94 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding skin(2)|breast(1) 3 AGCAGGCAGCCAACGTCCTCT 0.602 9 62 --- --- --- --- PASS EIF3CL 728689 broad.mit.edu 37 16 28734633 28734633 + Missense_Mutation SNP C A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr16:28734633C>A uc010byj.2 + 10 1017 c.928C>A c.(928-930)CCG>ACG p.P310T uc010vct.1_Intron|EIF3CL_uc010byi.2_Missense_Mutation_p.P309T|EIF3CL_uc002dqs.3_Missense_Mutation_p.P309T|EIF3C_uc002dqt.3_Missense_Mutation_p.P309T|EIF3CL_uc010vcy.1_Missense_Mutation_p.P299T|EIF3C_uc002dqu.3_Missense_Mutation_p.P309T|EIF3CL_uc002dqv.3_Missense_Mutation_p.P55T NM_001099661 NP_001093131 B5ME19 B5ME19_HUMAN eukaryotic translation initiation factor 3, 310 eukaryotic translation initiation factor 3 complex translation initiation factor activity 0 GGGCGGAGTGCCGTTGGTTAA 0.542 53 471 --- --- --- --- PASS CMIP 80790 broad.mit.edu 37 16 81733360 81733360 + Missense_Mutation SNP G A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr16:81733360G>A uc002fgp.2 + 15 1781 c.1709G>A c.(1708-1710)GGT>GAT p.G570D CMIP_uc002fgq.1_Missense_Mutation_p.G476D|CMIP_uc010vnq.1_Missense_Mutation_p.G383D|CMIP_uc002fgr.1_Missense_Mutation_p.G417D NM_198390 NP_938204 Q8IY22 CMIP_HUMAN c-Maf-inducing protein isoform C-mip 536 cytoplasm|nucleus 0 AACAAGCTGGGTCCCTGCATG 0.602 3 17 --- --- --- --- PASS OR1E1 8387 broad.mit.edu 37 17 3301392 3301392 + Missense_Mutation SNP G T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr17:3301392G>T uc002fvj.1 - 1 313 c.313C>A c.(313-315)CTG>ATG p.L105M NM_003553 NP_003544 P30953 OR1E1_HUMAN olfactory receptor, family 1, subfamily E, 105 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CCAAATAACAGGAAGAAGTAC 0.542 17 49 --- --- --- --- PASS ZNF594 84622 broad.mit.edu 37 17 5086129 5086129 + Missense_Mutation SNP G C C TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr17:5086129G>C uc010cla.1 - 2 1579 c.1423C>G c.(1423-1425)CTT>GTT p.L475V NM_032530 NP_115919 Q96JF6 ZN594_HUMAN zinc finger protein 594 475 C2H2-type 13. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|skin(1) 3 TGTGTAACAAGGTGTGACCTC 0.473 23 78 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7578442 7578442 + Missense_Mutation SNP T C C rs148924904 TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr17:7578442T>C uc002gim.2 - 5 682 c.488A>G c.(487-489)TAC>TGC p.Y163C TP53_uc002gig.1_Missense_Mutation_p.Y163C|TP53_uc002gih.2_Missense_Mutation_p.Y163C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.Y31C|TP53_uc010cng.1_Missense_Mutation_p.Y31C|TP53_uc002gii.1_Missense_Mutation_p.Y31C|TP53_uc010cnh.1_Missense_Mutation_p.Y163C|TP53_uc010cni.1_Missense_Mutation_p.Y163C|TP53_uc002gij.2_Missense_Mutation_p.Y163C|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.Y70C|TP53_uc002gio.2_Missense_Mutation_p.Y31C|TP53_uc010vug.1_Missense_Mutation_p.Y124C NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 163 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.Y163C(95)|p.Y163N(17)|p.Y163H(17)|p.Y163*(7)|p.0?(7)|p.Y163S(4)|p.Y163Y(3)|p.Y163fs*1(2)|p.Y163D(2)|p.Y163fs*7(2)|p.V157_C176del20(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.Y163fs*18(1)|p.I162_Y163delIY(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TGACTGCTTGTAGATGGCCAT 0.622 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 33 82 --- --- --- --- PASS MYH4 4622 broad.mit.edu 37 17 10356250 10356250 + Splice_Site SNP C A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr17:10356250C>A uc002gmn.2 - 25 3223 c.3112_splice c.e25-1 p.L1038_splice uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN myosin, heavy polypeptide 4, skeletal muscle muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(10)|skin(2)|central_nervous_system(1) 13 ATCCTTCAAGCTAAATTTATG 0.348 26 112 --- --- --- --- PASS DNAH9 1770 broad.mit.edu 37 17 11672439 11672439 + Missense_Mutation SNP G T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr17:11672439G>T uc002gne.2 + 38 7413 c.7345G>T c.(7345-7347)GCG>TCG p.A2449S DNAH9_uc010coo.2_Missense_Mutation_p.A1743S NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 2449 AAA 3 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CCCATTCCAGGCGTGTTTGGT 0.597 22 85 --- --- --- --- PASS TEKT3 64518 broad.mit.edu 37 17 15222447 15222447 + Silent SNP C A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr17:15222447C>A uc002gon.2 - 5 868 c.681G>T c.(679-681)CTG>CTT p.L227L NM_031898 NP_114104 Q9BXF9 TEKT3_HUMAN tektin 3 227 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule ovary(2) 2 UCEC - Uterine corpus endometrioid carcinoma (92;0.0877) CTTGACAACACAGAATAGTAT 0.294 4 47 --- --- --- --- PASS CCDC144A 9720 broad.mit.edu 37 17 16612188 16612188 + Nonsense_Mutation SNP C T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr17:16612188C>T uc002gqk.1 + 5 893 c.817C>T c.(817-819)CAA>TAA p.Q273* CCDC144A_uc002gql.1_Intron|LOC162632_uc010cpj.1_5'Flank NM_014695 NP_055510 A2RUR9 C144A_HUMAN coiled-coil domain containing 144A 273 0 TCCTCATGTGCAAAAATCTGA 0.368 8 43 --- --- --- --- PASS LGALS9C 654346 broad.mit.edu 37 17 18395776 18395776 + Missense_Mutation SNP G T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr17:18395776G>T uc002gtw.2 + 9 748 c.678G>T c.(676-678)ATG>ATT p.M226I LGALS9C_uc010vyb.1_Missense_Mutation_p.M138I NM_001040078 NP_001035167 Q6DKI2 LEG9C_HUMAN galectin 9 like 226 sugar binding ovary(1) 1 GACAGCCGATGCCTTTCATCA 0.572 9 76 --- --- --- --- PASS HEATR6 63897 broad.mit.edu 37 17 58151157 58151157 + Missense_Mutation SNP G C C TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr17:58151157G>C uc002iyk.1 - 3 435 c.418C>G c.(418-420)CTT>GTT p.L140V HEATR6_uc010wos.1_5'Flank NM_022070 NP_071353 Q6AI08 HEAT6_HUMAN HEAT repeat containing 6 140 binding ovary(1)|skin(1) 2 all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10) AGGGCTTGAAGAATTTCCCTG 0.383 12 78 --- --- --- --- PASS HELZ 9931 broad.mit.edu 37 17 65145983 65145983 + Missense_Mutation SNP C A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr17:65145983C>A uc010wqk.1 - 19 2665 c.2478G>T c.(2476-2478)CAG>CAT p.Q826H HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.Q825H NM_014877 NP_055692 helicase with zinc finger domain ovary(1)|pancreas(1) 2 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) GGGCACTTACCTGCATGTGAT 0.383 16 64 --- --- --- --- PASS SDK2 54549 broad.mit.edu 37 17 71391492 71391492 + Missense_Mutation SNP C A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr17:71391492C>A uc010dfm.2 - 25 3394 c.3394G>T c.(3394-3396)GTG>TTG p.V1132L SDK2_uc002jjt.3_Missense_Mutation_p.V291L|SDK2_uc010dfn.2_Missense_Mutation_p.V811L NM_001144952 NP_001138424 Q58EX2 SDK2_HUMAN sidekick 2 1132 Extracellular (Potential).|Fibronectin type-III 6. cell adhesion integral to membrane ovary(2) 2 TTATAGCCCACGGACTCAGGG 0.622 8 48 --- --- --- --- PASS CD300E 342510 broad.mit.edu 37 17 72613559 72613559 + Missense_Mutation SNP C A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr17:72613559C>A uc002jlb.1 - 2 127 c.86G>T c.(85-87)GGG>GTG p.G29V NM_181449 NP_852114 Q496F6 CLM2_HUMAN CD300e molecule precursor 29 Ig-like V-type.|Extracellular (Potential). integral to membrane|plasma membrane receptor activity skin(2)|large_intestine(1)|ovary(1) 4 CAGAGAGTCCCCCGCAGTGCC 0.552 12 33 --- --- --- --- PASS DTNA 1837 broad.mit.edu 37 18 32428337 32428337 + Missense_Mutation SNP C A A rs147541731 TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr18:32428337C>A uc010dmn.1 + 13 1344 c.1343C>A c.(1342-1344)TCC>TAC p.S448Y DTNA_uc010xbx.1_Intron|DTNA_uc002kxv.3_Missense_Mutation_p.S391Y|DTNA_uc002kxw.2_Missense_Mutation_p.S391Y|DTNA_uc010dmj.2_Missense_Mutation_p.S388Y|DTNA_uc002kxz.2_Missense_Mutation_p.S388Y|DTNA_uc002kxy.2_Missense_Mutation_p.S388Y|DTNA_uc010dml.2_Missense_Mutation_p.S388Y|DTNA_uc002kyb.3_Missense_Mutation_p.S445Y|DTNA_uc010dmm.2_Missense_Mutation_p.S448Y|DTNA_uc010xby.1_Missense_Mutation_p.S138Y|DTNA_uc010dmo.2_Missense_Mutation_p.S70Y|DTNA_uc002kyd.3_Missense_Mutation_p.S70Y|DTNA_uc010xbz.1_Missense_Mutation_p.S157Y|DTNA_uc010xca.1_Missense_Mutation_p.S100Y|DTNA_uc002kye.2_Missense_Mutation_p.S96Y NM_001390 NP_001381 Q9Y4J8 DTNA_HUMAN dystrobrevin alpha isoform 1 448 Syntrophin-binding region. neuromuscular synaptic transmission|signal transduction|striated muscle contraction cell junction|cytoplasm|synapse calcium ion binding|protein binding|zinc ion binding 0 GCAGCAGAGTCCTCTTCGTCT 0.433 7 47 --- --- --- --- PASS MOCOS 55034 broad.mit.edu 37 18 33800110 33800110 + Silent SNP G A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr18:33800110G>A uc002kzq.3 + 9 1913 c.1890G>A c.(1888-1890)CAG>CAA p.Q630Q NM_017947 NP_060417 Q96EN8 MOCOS_HUMAN molybdenum cofactor sulfurase 630 Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding skin(1) 1 Pyridoxal Phosphate(DB00114) GTCAGAAGCAGGAACCCCGGC 0.512 13 87 --- --- --- --- PASS ADNP2 22850 broad.mit.edu 37 18 77895149 77895149 + Missense_Mutation SNP C T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr18:77895149C>T uc002lnw.2 + 4 2308 c.1853C>T c.(1852-1854)GCC>GTC p.A618V NM_014913 NP_055728 Q6IQ32 ADNP2_HUMAN ADNP homeobox 2 618 cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|breast(3)|central_nervous_system(1) 8 all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2) Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164) TACACGCTGGCCCCCGTGTCT 0.602 12 66 --- --- --- --- PASS ZNF554 115196 broad.mit.edu 37 19 2832368 2832368 + Silent SNP A T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr19:2832368A>T uc002lwm.2 + 4 519 c.321A>T c.(319-321)TCA>TCT p.S107S ZNF554_uc002lwl.2_Silent_p.S56S NM_001102651 NP_001096121 Q86TJ5 ZN554_HUMAN zinc finger protein 554 107 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 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) CACAAACCTCACAAGTCACTA 0.453 27 151 --- --- --- --- PASS KDM4B 23030 broad.mit.edu 37 19 5077390 5077390 + Missense_Mutation SNP G T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr19:5077390G>T uc002mbq.3 + 8 915 c.689G>T c.(688-690)GGG>GTG p.G230V KDM4B_uc010xil.1_Missense_Mutation_p.G230V|KDM4B_uc010xim.1_Missense_Mutation_p.G230V|KDM4B_uc002mbr.3_5'UTR NM_015015 NP_055830 O94953 KDM4B_HUMAN jumonji domain containing 2B 230 JmjC. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding lung(1) 1 TTCTTCCCCGGGAGCTCGCAG 0.642 49 354 --- --- --- --- PASS EMR1 2015 broad.mit.edu 37 19 6937277 6937277 + Missense_Mutation SNP C A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr19:6937277C>A uc002mfw.2 + 19 2443 c.2405C>A c.(2404-2406)GCC>GAC p.A802D EMR1_uc010dvc.2_Missense_Mutation_p.A737D|EMR1_uc010dvb.2_Missense_Mutation_p.A783D|EMR1_uc010xji.1_Missense_Mutation_p.A661D|EMR1_uc010xjj.1_Missense_Mutation_p.A625D NM_001974 NP_001965 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone 802 Helical; Name=6; (Potential). cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(3)|lung(1)|skin(1) 5 all_hematologic(4;0.166) AAGGCCTTTGCCCAGCTCTTC 0.542 31 158 --- --- --- --- PASS C3P1 388503 broad.mit.edu 37 19 10157814 10157814 + RNA SNP C A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr19:10157814C>A uc010dwx.1 + 10 c.1365C>A NR_027300 Synthetic construct DNA, clone: pF1KB7402, Homo sapiens LOC388503 gene, without stop codon, in Flexi system. 0 CTCCCATTACCCCATCTCTGT 0.527 100 538 --- --- --- --- PASS ICAM3 3385 broad.mit.edu 37 19 10444585 10444585 + Missense_Mutation SNP G T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr19:10444585G>T uc002mob.2 - 7 1647 c.1592C>A c.(1591-1593)ACG>AAG p.T531K RAVER1_uc002moa.2_5'Flank|ICAM3_uc010dxd.1_Missense_Mutation_p.T454K NM_002162 NP_002153 P32942 ICAM3_HUMAN intercellular adhesion molecule 3 precursor 531 Cytoplasmic (Potential). cell-cell adhesion|regulation of immune response integral to plasma membrane integrin binding upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05) CTGCATAGACGTGAGGGGCAG 0.587 27 203 --- --- --- --- PASS SMARCA4 6597 broad.mit.edu 37 19 11118656 11118656 + Missense_Mutation SNP G T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr19:11118656G>T uc002mqf.3 + 14 2364 c.2080G>T c.(2080-2082)GAC>TAC p.D694Y SMARCA4_uc010dxp.2_Missense_Mutation_p.D694Y|SMARCA4_uc010dxo.2_Missense_Mutation_p.D694Y|SMARCA4_uc002mqg.1_Missense_Mutation_p.D694Y|SMARCA4_uc010dxq.2_Missense_Mutation_p.D694Y|SMARCA4_uc010dxr.2_Missense_Mutation_p.D694Y|SMARCA4_uc002mqj.3_Missense_Mutation_p.D694Y|SMARCA4_uc010dxs.2_Missense_Mutation_p.D694Y NM_003072 NP_003063 P51532 SMCA4_HUMAN SWI/SNF-related matrix-associated 694 chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1) 67 all_lung(6;0.0512)|Lung NSC(9;0.0568) TCCAGATCCAGACAGCGATGA 0.597 F|N|Mis NSCLC Rhabdoid_Predisposition_syndrome 6 57 --- --- --- --- PASS MAN2B1 4125 broad.mit.edu 37 19 12769297 12769297 + Missense_Mutation SNP G C C TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr19:12769297G>C uc002mub.2 - 8 1130 c.1054C>G c.(1054-1056)CTC>GTC p.L352V MAN2B1_uc010dyv.1_Missense_Mutation_p.L351V NM_000528 NP_000519 O00754 MA2B1_HUMAN mannosidase, alpha, class 2B, member 1 352 protein deglycosylation lysosome alpha-mannosidase activity|zinc ion binding ovary(4)|central_nervous_system(2) 6 GTGGAGTAGAGAACATGGACA 0.617 3 57 --- --- --- --- PASS NWD1 284434 broad.mit.edu 37 19 16910890 16910890 + Missense_Mutation SNP C G G TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr19:16910890C>G uc002neu.3 + 17 4075 c.3653C>G c.(3652-3654)ACC>AGC p.T1218S NWD1_uc002net.3_Missense_Mutation_p.T1083S|NWD1_uc002nev.3_Missense_Mutation_p.T1012S Q149M9 NWD1_HUMAN RecName: Full=NACHT and WD repeat domain-containing protein 1; 1218 WD 10. ATP binding skin(3)|ovary(2)|pancreas(2) 7 ACCGGCCTCACCGCAGTGTCC 0.522 23 99 --- --- --- --- PASS ZNF208 7757 broad.mit.edu 37 19 22154987 22154987 + Missense_Mutation SNP C A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr19:22154987C>A uc002nqp.2 - 5 2698 c.2549G>T c.(2548-2550)TGT>TTT p.C850F ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) GGCTTTGCCACATGCTTCACA 0.363 9 27 --- --- --- --- PASS TSHZ3 57616 broad.mit.edu 37 19 31769875 31769875 + Missense_Mutation SNP A G G TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr19:31769875A>G uc002nsy.3 - 2 889 c.824T>C c.(823-825)CTG>CCG p.L275P NM_020856 NP_065907 Q63HK5 TSH3_HUMAN zinc finger protein 537 275 C2H2-type 2. negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(2)|pancreas(1)|lung(1) 8 Esophageal squamous(110;0.226) CATGCACTTCAGCACCTTCTG 0.507 23 401 --- --- --- --- PASS DPY19L3 147991 broad.mit.edu 37 19 32971316 32971316 + Missense_Mutation SNP A G G TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr19:32971316A>G uc002ntg.2 + 18 2018 c.1842A>G c.(1840-1842)ATA>ATG p.I614M DPY19L3_uc002nth.1_Missense_Mutation_p.I614M|DPY19L3_uc002nti.1_RNA|DPY19L3_uc002ntj.1_Missense_Mutation_p.I36M NM_207325 NP_997208 Q6ZPD9 D19L3_HUMAN dpy-19-like 3 614 integral to membrane ovary(4) 4 Esophageal squamous(110;0.162) TTTATCAGATATATGCCAAGA 0.483 5 113 --- --- --- --- PASS ANKRD27 84079 broad.mit.edu 37 19 33132955 33132955 + Silent SNP G C C TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr19:33132955G>C uc002ntn.1 - 10 1035 c.879C>G c.(877-879)CTC>CTG p.L293L ANKRD27_uc002nto.1_Silent_p.L293L NM_032139 NP_115515 Q96NW4 ANR27_HUMAN ankyrin repeat domain 27 (VPS9 domain) 293 VPS9. early endosome to late endosome transport early endosome|lysosome GTPase activator activity|guanyl-nucleotide exchange factor activity ovary(2)|skin(2)|pancreas(1) 5 Esophageal squamous(110;0.137) ACTGTGTAATGAGCTGCACCA 0.498 11 340 --- --- --- --- PASS ZNF383 163087 broad.mit.edu 37 19 37734025 37734025 + Missense_Mutation SNP A T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr19:37734025A>T uc002oft.1 + 8 1467 c.887A>T c.(886-888)CAA>CTA p.Q296L ZNF383_uc002ofs.1_Missense_Mutation_p.Q231L|ZNF383_uc002ofu.1_Missense_Mutation_p.Q296L NM_152604 NP_689817 Q8NA42 ZN383_HUMAN zinc finger protein 383 296 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AAGAGCTCACAACTTTTTCAG 0.388 14 66 --- --- --- --- PASS PSG2 5670 broad.mit.edu 37 19 43576011 43576011 + Missense_Mutation SNP C A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr19:43576011C>A uc002ovr.2 - 4 898 c.805G>T c.(805-807)GCA>TCA p.A269S PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG2_uc002ovq.3_Missense_Mutation_p.A269S|PSG2_uc010eiq.1_Missense_Mutation_p.A269S|PSG2_uc002ovs.3_Missense_Mutation_p.A269S|PSG2_uc002ovt.3_Missense_Mutation_p.A269S NM_031246 NP_112536 P11465 PSG2_HUMAN pregnancy specific beta-1-glycoprotein 2 269 Ig-like C2-type 2. cell migration|female pregnancy extracellular region 0 Prostate(69;0.00682) GAATACTGTGCCGGTGGGTTA 0.453 151 149 --- --- --- --- PASS ZNF222 7673 broad.mit.edu 37 19 44536384 44536384 + Missense_Mutation SNP C T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr19:44536384C>T uc002oyc.2 + 4 740 c.557C>T c.(556-558)TCA>TTA p.S186L ZNF284_uc010ejd.2_Intron|ZNF222_uc002oye.2_Missense_Mutation_p.S226L|ZNF222_uc002oyd.2_Missense_Mutation_p.S132L NM_013360 NP_037492 Q9UK12 ZN222_HUMAN zinc finger protein 222 isoform 2 186 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3) 3 Prostate(69;0.0435) AGTCAGAGCTCACGTCTGCAA 0.433 15 246 --- --- --- --- PASS ZFP112 7771 broad.mit.edu 37 19 44844670 44844670 + Missense_Mutation SNP C T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr19:44844670C>T uc010ejj.2 - 3 153 c.40G>A c.(40-42)GCT>ACT p.A14T ZFP112_uc002ozc.3_Missense_Mutation_p.A8T|ZFP112_uc010xwy.1_Missense_Mutation_p.A31T|ZFP112_uc010xwz.1_Missense_Mutation_p.A13T NM_001083335 NP_001076804 Q9UJU3 ZF112_HUMAN zinc finger protein 228 isoform 1 14 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(2) 5 AAGACCACAGCAACATCCTTG 0.502 86 144 --- --- --- --- PASS CEACAM20 125931 broad.mit.edu 37 19 45029245 45029245 + Missense_Mutation SNP C G G TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr19:45029245C>G uc010ejn.1 - 2 101 c.85G>C c.(85-87)GCA>CCA p.A29P CEACAM20_uc010ejo.1_Missense_Mutation_p.A29P|CEACAM20_uc010ejp.1_Missense_Mutation_p.A29P|CEACAM20_uc010ejq.1_Missense_Mutation_p.A29P NM_001102597 NP_001096067 Q6UY09 CEA20_HUMAN carcinoembryonic antigen-related cell adhesion 29 integral to membrane large_intestine(2) 2 Prostate(69;0.0352) AGCTGGGCTGCAGCTGGAGGA 0.582 24 158 --- --- --- --- PASS KLK2 3817 broad.mit.edu 37 19 51377982 51377982 + Missense_Mutation SNP G T T rs6072 TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr19:51377982G>T uc002ptv.2 + 2 93 c.52G>T c.(52-54)GTG>TTG p.V18L KLK2_uc010eog.2_Intron|KLK2_uc010yck.1_Missense_Mutation_p.V18L|KLK2_uc002ptu.2_Missense_Mutation_p.V18L|KLK2_uc002ptt.2_RNA|KLK2_uc010ycl.1_5'UTR|KLK2_uc010ycm.1_Intron|KLK2_uc010eoh.2_5'Flank NM_005551 NP_005542 P20151 KLK2_HUMAN kallikrein 2, prostatic isoform 1 18 proteolysis serine-type endopeptidase activity ovary(1)|skin(1) 2 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871) CGCAGGTGCCGTGCCCCTCAT 0.602 T ETV4 prostate 14 85 --- --- --- --- PASS LILRA3 11026 broad.mit.edu 37 19 54803681 54803681 + Missense_Mutation SNP C G G TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr19:54803681C>G uc002qfd.2 - 3 208 c.143G>C c.(142-144)AGG>ACG p.R48T LILRA6_uc002qew.1_Intron|LILRA3_uc010erk.2_Missense_Mutation_p.R48T NM_006865 NP_006856 Q8N6C8 LIRA3_HUMAN leukocyte immunoglobulin-like receptor, 48 Ig-like C2-type 1. defense response extracellular region|plasma membrane antigen binding|receptor activity ovary(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CCCCTGACACCTGAGGGTCAC 0.552 7 121 --- --- --- --- PASS NLRP4 147945 broad.mit.edu 37 19 56390285 56390285 + Missense_Mutation SNP T C C TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr19:56390285T>C uc002qmd.3 + 9 3244 c.2822T>C c.(2821-2823)CTC>CCC p.L941P NLRP4_uc002qmf.2_Missense_Mutation_p.L866P|NLRP4_uc010etf.2_Missense_Mutation_p.L716P NM_134444 NP_604393 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 941 LRR 7. ATP binding ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1) 15 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) GTGGTTGTACTCTGTGAGGCC 0.582 4 95 --- --- --- --- PASS ZIM2 23619 broad.mit.edu 37 19 57286711 57286711 + Missense_Mutation SNP G C C TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr19:57286711G>C uc002qnr.2 - 11 1311 c.929C>G c.(928-930)ACT>AGT p.T310S uc010ygp.1_Intron|uc002qnp.1_Intron|ZIM2_uc010ygq.1_Missense_Mutation_p.T106S|ZIM2_uc010ygr.1_Missense_Mutation_p.T106S|ZIM2_uc002qnq.2_Missense_Mutation_p.T310S|ZIM2_uc010etp.2_Missense_Mutation_p.T310S|ZIM2_uc010ygs.1_Missense_Mutation_p.T310S NM_015363 NP_056178 Q9NZV7 ZIM2_HUMAN zinc finger, imprinted 2 310 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3) 3 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0314) TCCAGGAGCAGTGCCTTCCTG 0.448 18 89 --- --- --- --- PASS SMOX 54498 broad.mit.edu 37 20 4163106 4163106 + Missense_Mutation SNP A T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr20:4163106A>T uc002wkm.1 + 5 1181 c.980A>T c.(979-981)CAT>CTT p.H327L SMOX_uc002wkk.1_Intron|SMOX_uc002wkl.1_Intron|SMOX_uc002wkn.1_Intron|SMOX_uc002wkp.2_Missense_Mutation_p.H327L|SMOX_uc010zqo.1_Intron|SMOX_uc002wko.1_Missense_Mutation_p.H327L NM_175839 NP_787033 Q9NWM0 SMOX_HUMAN spermine oxidase isoform 1 327 polyamine biosynthetic process|xenobiotic metabolic process cytosol|nucleus polyamine oxidase activity breast(1) 1 Spermine(DB00127) CCGGCGGACCATGTGATTGTG 0.642 21 94 --- --- --- --- PASS TASP1 55617 broad.mit.edu 37 20 13463980 13463980 + Silent SNP A G G TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr20:13463980A>G uc002woi.2 - 11 996 c.879T>C c.(877-879)TGT>TGC p.C293C TASP1_uc010zri.1_RNA|TASP1_uc002woh.2_Silent_p.C270C|TASP1_uc010zrj.1_RNA NM_017714 NP_060184 Q9H6P5 TASP1_HUMAN taspase 1 precursor 293 asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation threonine-type endopeptidase activity 0 GATGCTCTCCACATCCTAGAA 0.438 16 83 --- --- --- --- PASS CRNKL1 51340 broad.mit.edu 37 20 20033180 20033180 + Missense_Mutation SNP T A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr20:20033180T>A uc002wrs.2 - 2 322 c.290A>T c.(289-291)CAG>CTG p.Q97L C20orf26_uc010gcw.1_5'Flank|C20orf26_uc010zse.1_5'Flank|C20orf26_uc002wru.2_5'Flank|CRNKL1_uc002wrt.1_Missense_Mutation_p.Q85L NM_016652 NP_057736 Q9BZJ0 CRNL1_HUMAN crooked neck-like 1 protein 97 spliceosome assembly catalytic step 2 spliceosome|cytoplasm|nuclear speck RNA binding ovary(2)|large_intestine(1) 3 GTGACCAGGCTGCGCGTCCTC 0.642 14 39 --- --- --- --- PASS DEFB116 245930 broad.mit.edu 37 20 29891228 29891228 + Missense_Mutation SNP C A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr20:29891228C>A uc010ztm.1 - 2 96 c.96G>T c.(94-96)AAG>AAT p.K32N NM_001037731 NP_001032820 Q30KQ4 DB116_HUMAN beta-defensin 116 precursor 32 defense response to bacterium extracellular region 0 all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) GCTCTCGGCTCTTGCCATTGT 0.453 24 137 --- --- --- --- PASS ASXL1 171023 broad.mit.edu 37 20 31023858 31023858 + Missense_Mutation SNP A G G TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr20:31023858A>G uc002wxs.2 + 12 3769 c.3343A>G c.(3343-3345)AGC>GGC p.S1115G ASXL1_uc010geb.2_Missense_Mutation_p.S1006G NM_015338 NP_056153 Q8IXJ9 ASXL1_HUMAN additional sex combs like 1 isoform 1 1115 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent PR-DUB complex metal ion binding|protein binding haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1) 248 GCTGCAGGGTAGCTTGCCCCT 0.567 F|N|Mis MDS|CMML 21 96 --- --- --- --- PASS SPINLW1 57119 broad.mit.edu 37 20 44166708 44166708 + Missense_Mutation SNP T A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr20:44166708T>A uc010zxc.1 - 4 449 c.417A>T c.(415-417)GAA>GAT p.E139D WFDC6_uc002xos.1_Missense_Mutation_p.E39D NM_020398 NP_065131 O95925 EPPI_HUMAN serine peptidase inhibitor-like, with Kunitz and 39 WAP. extracellular region serine-type endopeptidase inhibitor activity pancreas(1) 1 Myeloproliferative disorder(115;0.0122) CCACTTCGCATTCCACTTTGA 0.507 24 159 --- --- --- --- PASS PREX1 57580 broad.mit.edu 37 20 47249075 47249075 + Missense_Mutation SNP C T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr20:47249075C>T uc002xtw.1 - 34 4393 c.4370G>A c.(4369-4371)GGT>GAT p.G1457D PREX1_uc002xtv.1_Missense_Mutation_p.G754D NM_020820 NP_065871 Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4, 1457 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) GCTGGCCCCACCCTCCAGGCG 0.647 11 81 --- --- --- --- PASS TSHZ2 128553 broad.mit.edu 37 20 51870385 51870385 + Missense_Mutation SNP G T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr20:51870385G>T uc002xwo.2 + 2 1344 c.388G>T c.(388-390)GCC>TCC p.A130S NM_173485 NP_775756 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 130 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|haematopoietic_and_lymphoid_tissue(1) 6 STAD - Stomach adenocarcinoma(23;0.1) CGCTGTCTACGCCAACATCCT 0.527 12 66 --- --- --- --- PASS CASS4 57091 broad.mit.edu 37 20 55027803 55027803 + Missense_Mutation SNP C A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr20:55027803C>A uc002xxp.2 + 6 1796 c.1571C>A c.(1570-1572)TCC>TAC p.S524Y CASS4_uc002xxq.3_Missense_Mutation_p.S524Y|CASS4_uc002xxr.2_Missense_Mutation_p.S524Y|CASS4_uc010zze.1_Missense_Mutation_p.S470Y|CASS4_uc010gio.2_Intron NM_001164116 NP_001157588 Q9NQ75 CASS4_HUMAN HEF-like protein isoform a 524 cell adhesion cytoplasm|cytoskeleton|focal adhesion two-component sensor activity ovary(2)|skin(1) 3 CAGACCATCTCCAACTCCTAC 0.488 12 59 --- --- --- --- PASS ARFGAP1 55738 broad.mit.edu 37 20 61907487 61907487 + Silent SNP G A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr20:61907487G>A uc002yem.2 + 3 217 c.105G>A c.(103-105)GTG>GTA p.V35V ARFGAP1_uc011aas.1_Intron|ARFGAP1_uc011aat.1_5'UTR|ARFGAP1_uc002yel.2_Silent_p.V35V|ARFGAP1_uc002yen.2_Silent_p.V35V NM_018209 NP_060679 Q8N6T3 ARFG1_HUMAN ADP-ribosylation factor GTPase activating 35 C4-type.|Arf-GAP. COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER cytosol|Golgi-associated vesicle membrane ARF GTPase activator activity|zinc ion binding pancreas(1) 1 all_cancers(38;1.59e-09) GGGTCAGTGTGACCTACGGCA 0.627 43 188 --- --- --- --- PASS HIRA 7290 broad.mit.edu 37 22 19384472 19384472 + Splice_Site SNP T C C TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr22:19384472T>C uc002zpf.1 - 7 714 c.494_splice c.e7-1 p.E165_splice HIRA_uc011agx.1_Splice_Site_p.E31_splice|HIRA_uc010grn.1_Splice_Site_p.E165_splice|HIRA_uc010gro.1_Splice_Site_p.E121_splice|HIRA_uc010grp.2_Splice_Site NM_003325 NP_003316 P54198 HIRA_HUMAN HIR histone cell cycle regulation defective chromatin modification|regulation of transcription from RNA polymerase II promoter PML body chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(1) 1 Colorectal(54;0.0993) CTAGAATTTCTGTGAAGAAAA 0.488 9 49 --- --- --- --- PASS ASCC2 84164 broad.mit.edu 37 22 30198081 30198081 + Silent SNP G A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr22:30198081G>A uc003agr.2 - 14 1575 c.1470C>T c.(1468-1470)TGC>TGT p.C490C ASCC2_uc003ags.2_Intron|ASCC2_uc003agt.2_Silent_p.C490C|ASCC2_uc011akr.1_Silent_p.C414C NM_032204 NP_115580 Q9H1I8 ASCC2_HUMAN activating signal cointegrator 1 complex subunit 490 CUE. regulation of transcription, DNA-dependent|transcription, DNA-dependent 0 OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259) AGTACTCCAGGCAGGCCAGGA 0.612 11 52 --- --- --- --- PASS BPIL2 254240 broad.mit.edu 37 22 32810391 32810391 + Missense_Mutation SNP C A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr22:32810391C>A uc003amn.2 - 15 1423 c.1423G>T c.(1423-1425)GAC>TAC p.D475Y C22orf28_uc003amm.2_5'Flank|C22orf28_uc011ama.1_5'Flank|BPIL2_uc010gwo.2_Missense_Mutation_p.D232Y|BPIL2_uc011amb.1_Missense_Mutation_p.D199Y NM_174932 NP_777592 Q8NFQ6 BPIL2_HUMAN bactericidal/permeability-increasing 475 extracellular region lipopolysaccharide binding|phospholipid binding ovary(1)|skin(1) 2 TACTTCAGGTCGGTGGAAATC 0.493 7 93 --- --- --- --- PASS ENTHD1 150350 broad.mit.edu 37 22 40161370 40161370 + Missense_Mutation SNP C A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr22:40161370C>A uc003ayg.2 - 6 1328 c.1077G>T c.(1075-1077)CAG>CAT p.Q359H NM_152512 NP_689725 Q8IYW4 ENTD1_HUMAN ENTH domain containing 1 359 ovary(2)|skin(1) 3 Melanoma(58;0.0749) CTACAGAGGCCTGGTTATGGA 0.408 17 130 --- --- --- --- PASS PNPLA5 150379 broad.mit.edu 37 22 44280221 44280221 + Silent SNP C G G TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr22:44280221C>G uc003beg.2 - 7 1051 c.954G>C c.(952-954)CTG>CTC p.L318L PNPLA5_uc011aqc.1_Silent_p.L178L|PNPLA5_uc003beh.2_Silent_p.L204L NM_138814 NP_620169 Q7Z6Z6 PLPL5_HUMAN patatin-like phospholipase domain containing 5 318 lipid catabolic process hydrolase activity 0 all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222) ATGCTTTCTTCAGTGCTGCAA 0.627 OREG0026622 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 23 131 --- --- --- --- PASS SBF1 6305 broad.mit.edu 37 22 50901147 50901147 + Splice_Site SNP C A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr22:50901147C>A uc003blh.2 - 18 2164 c.1969_splice c.e18-1 p.K657_splice SBF1_uc011arx.1_Splice_Site_p.K321_splice|SBF1_uc003bli.2_Splice_Site_p.K658_splice NM_002972 NP_002963 O95248 MTMR5_HUMAN SET binding factor 1 protein dephosphorylation integral to membrane|nucleus protein tyrosine/serine/threonine phosphatase activity 0 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;0.206)|LUAD - Lung adenocarcinoma(64;0.247) GGCTCAGCTTCTGCAGGAGCC 0.637 3 25 --- --- --- --- PASS NCAPH2 29781 broad.mit.edu 37 22 50961585 50961585 + Missense_Mutation SNP C T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chr22:50961585C>T uc003blr.3 + 19 1789 c.1667C>T c.(1666-1668)TCC>TTC p.S556F NCAPH2_uc003blv.2_Missense_Mutation_p.S556F|NCAPH2_uc010hbb.2_Intron|NCAPH2_uc003blu.3_RNA|NCAPH2_uc003bls.3_RNA|NCAPH2_uc003blt.3_RNA|NCAPH2_uc003blw.3_RNA|NCAPH2_uc003blx.3_Missense_Mutation_p.S557F|NCAPH2_uc003bly.3_RNA NM_152299 NP_689512 Q6IBW4 CNDH2_HUMAN kleisin beta isoform 2 556 chromosome condensation chromosome|nucleus ovary(1)|skin(1) 2 all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.212) ATGCTGGCCTCCCTGCAGCTG 0.637 4 39 --- --- --- --- PASS FRMPD4 9758 broad.mit.edu 37 X 12736381 12736381 + Missense_Mutation SNP C G G TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chrX:12736381C>G uc004cuz.1 + 16 3942 c.3436C>G c.(3436-3438)CAA>GAA p.Q1146E FRMPD4_uc011mij.1_Missense_Mutation_p.Q1138E NM_014728 NP_055543 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 1146 positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1) 13 AGGACTTGGTCAAGGGGACCG 0.537 40 345 --- --- --- --- PASS GLRA2 2742 broad.mit.edu 37 X 14550468 14550468 + Missense_Mutation SNP A T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chrX:14550468A>T uc010nep.2 + 3 508 c.176A>T c.(175-177)GAT>GTT p.D59V GLRA2_uc010neq.2_Missense_Mutation_p.D59V|GLRA2_uc004cwe.3_Missense_Mutation_p.D59V|GLRA2_uc011mio.1_5'UTR|GLRA2_uc011mip.1_Missense_Mutation_p.D37V NM_001118885 NP_001112357 P23416 GLRA2_HUMAN glycine receptor, alpha 2 isoform A 59 Extracellular (Probable). neuropeptide signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity ovary(1)|lung(1) 2 Hepatocellular(33;0.128) Ethanol(DB00898)|Glycine(DB00145) TCAGGATATGATGCAAGAATC 0.378 10 113 --- --- --- --- PASS BMX 660 broad.mit.edu 37 X 15526551 15526551 + Silent SNP T C C TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chrX:15526551T>C uc004cww.2 + 2 263 c.75T>C c.(73-75)AAT>AAC p.N25N BMX_uc004cwx.3_Silent_p.N25N|BMX_uc004cwy.3_Silent_p.N25N NM_203281 NP_975010 P51813 BMX_HUMAN BMX non-receptor tyrosine kinase 25 PH. cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development cytosol ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity lung(3)|ovary(2) 5 Hepatocellular(33;0.183) CACCAAATAATTACAAAGAAC 0.279 6 62 --- --- --- --- PASS PTCHD1 139411 broad.mit.edu 37 X 23398078 23398078 + Missense_Mutation SNP A T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chrX:23398078A>T uc004dal.3 + 2 730 c.722A>T c.(721-723)CAG>CTG p.Q241L PTCHD1_uc010nfu.1_Missense_Mutation_p.Q241L NM_173495 NP_775766 Q96NR3 PTHD1_HUMAN patched domain containing 1 241 cognition|smoothened signaling pathway integral to membrane|plasma membrane hedgehog receptor activity ovary(4)|kidney(1)|skin(1) 6 AGACTGTTTCAGAAATCCAAC 0.507 34 340 --- --- --- --- PASS MAGEB16 139604 broad.mit.edu 37 X 35820883 35820883 + Nonsense_Mutation SNP T A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chrX:35820883T>A uc010ngt.1 + 2 849 c.570T>A c.(568-570)TAT>TAA p.Y190* NM_001099921 NP_001093391 A2A368 MAGBG_HUMAN melanoma antigen family B, 16 190 MAGE. lung(3)|ovary(2)|breast(1)|skin(1) 7 GCCTCACCTATGATGGGATGC 0.532 9 91 --- --- --- --- PASS CYBB 1536 broad.mit.edu 37 X 37658245 37658245 + Missense_Mutation SNP G T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chrX:37658245G>T uc004ddr.2 + 7 773 c.712G>T c.(712-714)GTG>TTG p.V238L CYBB_uc011mke.1_RNA|CYBB_uc011mkf.1_Missense_Mutation_p.V206L|CYBB_uc011mkg.1_5'UTR NM_000397 NP_000388 P04839 CY24B_HUMAN cytochrome b-245 beta polypeptide 238 Extracellular (Potential).|Ferric oxidoreductase. electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity central_nervous_system(1)|skin(1) 2 GAGTTTGGCTGTGCATAATAT 0.373 5 38 --- --- --- --- PASS SRPX 8406 broad.mit.edu 37 X 38024093 38024093 + Silent SNP G C C TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chrX:38024093G>C uc004ddy.1 - 5 668 c.582C>G c.(580-582)CCC>CCG p.P194P SRPX_uc004ddz.1_Silent_p.P174P|SRPX_uc011mkh.1_Silent_p.P135P|SRPX_uc011mki.1_Silent_p.P194P NM_006307 NP_006298 P78539 SRPX_HUMAN sushi-repeat-containing protein, X-linked 194 HYR. cell adhesion cell surface|membrane 0 TCAGTTTGTTGGGTTCTGCAA 0.423 9 59 --- --- --- --- PASS OTC 5009 broad.mit.edu 37 X 38229091 38229091 + Missense_Mutation SNP G A A rs72554338 TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chrX:38229091G>A uc004def.3 + 3 473 c.259G>A c.(259-261)GAG>AAG p.E87K NM_000531 NP_000522 P00480 OTC_HUMAN ornithine carbamoyltransferase precursor 87 E -> K (in OTCD). arginine biosynthetic process|urea cycle mitochondrial matrix|ornithine carbamoyltransferase complex ornithine carbamoyltransferase activity ovary(1)|breast(1) 2 L-Citrulline(DB00155)|L-Ornithine(DB00129) CATGATTTTTGAGAAAAGAAG 0.318 10 64 --- --- --- --- PASS AKAP4 8852 broad.mit.edu 37 X 49955710 49955710 + Missense_Mutation SNP C A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chrX:49955710C>A uc004dow.1 - 6 2582 c.2458G>T c.(2458-2460)GGT>TGT p.G820C AKAP4_uc004dov.1_Missense_Mutation_p.G437C|AKAP4_uc010njp.1_Missense_Mutation_p.G642C|AKAP4_uc004dou.1_Missense_Mutation_p.G811C NM_003886 NP_003877 Q5JQC9 AKAP4_HUMAN A-kinase anchor protein 4 isoform 1 820 cell projection organization|single fertilization|sperm motility cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum protein kinase A binding kidney(3)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1) 8 Ovarian(276;0.236) TGAAGAAGACCTCCTACACTG 0.507 35 194 --- --- --- --- PASS FAM120C 54954 broad.mit.edu 37 X 54107770 54107770 + Missense_Mutation SNP C T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chrX:54107770C>T uc004dsz.3 - 14 3046 c.2963G>A c.(2962-2964)GGT>GAT p.G988D FAM120C_uc011moh.1_Missense_Mutation_p.V851M NM_017848 NP_060318 Q9NX05 F120C_HUMAN hypothetical protein LOC54954 988 ovary(1)|central_nervous_system(1) 2 TCCTGGCCCACCGACAGAAAC 0.537 6 139 --- --- --- --- PASS ITIH5L 347365 broad.mit.edu 37 X 54786271 54786271 + Nonsense_Mutation SNP C T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chrX:54786271C>T uc004dtj.2 - 7 1023 c.993G>A c.(991-993)TGG>TGA p.W331* NM_198510 NP_940912 Q6UXX5 ITH5L_HUMAN inter-alpha (globulin) inhibitor H5-like 331 VWFA. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity lung(2)|skin(2)|ovary(1)|breast(1) 6 CTCCAGCTTTCCAAACATTAA 0.468 15 66 --- --- --- --- PASS ITIH5L 347365 broad.mit.edu 37 X 54800576 54800576 + Missense_Mutation SNP C G G TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chrX:54800576C>G uc004dtj.2 - 6 871 c.841G>C c.(841-843)GAG>CAG p.E281Q NM_198510 NP_940912 Q6UXX5 ITH5L_HUMAN inter-alpha (globulin) inhibitor H5-like 281 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity lung(2)|skin(2)|ovary(1)|breast(1) 6 ACATTCTTCTCCATAGGTGGA 0.393 10 35 --- --- --- --- PASS ARHGEF9 23229 broad.mit.edu 37 X 62974188 62974188 + Missense_Mutation SNP G T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chrX:62974188G>T uc004dvl.2 - 1 844 c.5C>A c.(4-6)ACG>AAG p.T2K ARHGEF9_uc004dvj.1_Intron|ARHGEF9_uc004dvk.1_5'UTR|ARHGEF9_uc011mos.1_Intron|ARHGEF9_uc004dvm.1_Intron|ARHGEF9_uc011mot.1_Intron|ARHGEF9_uc004dvn.2_Intron NM_015185 NP_056000 O43307 ARHG9_HUMAN Cdc42 guanine exchange factor 9 2 apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol Rho guanyl-nucleotide exchange factor activity ovary(5)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 8 ATATACCAACGTCATACATAT 0.418 8 56 --- --- --- --- PASS MTMR8 55613 broad.mit.edu 37 X 63548673 63548673 + Missense_Mutation SNP C A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chrX:63548673C>A uc004dvs.2 - 12 1528 c.1460G>T c.(1459-1461)AGT>ATT p.S487I MTMR8_uc011mou.1_Intron NM_017677 NP_060147 Q96EF0 MTMR8_HUMAN myotubularin related protein 8 487 Myotubularin phosphatase. nuclear envelope protein tyrosine phosphatase activity ovary(2)|breast(2) 4 GGGCACAGTACTAGGATTGAG 0.453 4 47 --- --- --- --- PASS ZC4H2 55906 broad.mit.edu 37 X 64138987 64138987 + Missense_Mutation SNP G T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chrX:64138987G>T uc004dvu.2 - 4 584 c.496C>A c.(496-498)CAA>AAA p.Q166K ZC4H2_uc004dvv.2_Missense_Mutation_p.Q143K|ZC4H2_uc011mov.1_Missense_Mutation_p.Q143K|ZC4H2_uc011mow.1_Intron|ZC4H2_uc004dvw.1_3'UTR NM_018684 NP_061154 Q9NQZ6 ZC4H2_HUMAN zinc finger, C4H2 domain containing 166 metal ion binding|protein binding ovary(1) 1 CTAGCCACTTGGAGCTGTTGG 0.582 12 39 --- --- --- --- PASS OPHN1 4983 broad.mit.edu 37 X 67283827 67283827 + Missense_Mutation SNP C T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chrX:67283827C>T uc004dww.3 - 21 2321 c.2027G>A c.(2026-2028)AGG>AAG p.R676K OPHN1_uc011mpg.1_Intron NM_002547 NP_002538 O60890 OPHN1_HUMAN oligophrenin 1 676 Pro-rich. axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension axon|cell junction|cytosol|dendritic spine|synapse cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding ovary(2) 2 ATCCTGCAGCCTAGACACCAA 0.582 25 90 --- --- --- --- PASS NLGN3 54413 broad.mit.edu 37 X 70389467 70389467 + Silent SNP G A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chrX:70389467G>A uc004dzb.2 + 7 2311 c.2007G>A c.(2005-2007)GGG>GGA p.G669G NLGN3_uc004dzc.2_Silent_p.G552G|NLGN3_uc011mps.1_Silent_p.G649G|NLGN3_uc004dze.2_Silent_p.G487G NM_018977 NP_061850 Q9NZ94 NLGN3_HUMAN neuroligin 3 689 Extracellular (Potential). neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly cell surface|endocytic vesicle|integral to plasma membrane|synapse neurexin binding|receptor activity ovary(1) 1 Renal(35;0.156) CCTGGAACGGGGACCAGGATG 0.617 6 71 --- --- --- --- PASS ITGB1BP2 26548 broad.mit.edu 37 X 70524911 70524911 + Missense_Mutation SNP C G G TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chrX:70524911C>G uc004dzr.1 + 11 942 c.913C>G c.(913-915)CAC>GAC p.H305D BCYRN1_uc011mpt.1_Intron|ITGB1BP2_uc004dzs.1_Missense_Mutation_p.H287D NM_012278 NP_036410 Q9UKP3 ITBP2_HUMAN integrin beta 1 binding protein 2 305 muscle organ development|signal transduction SH3 domain binding ovary(1) 1 Renal(35;0.156) CCAGCTGGAGCACCCTGATGC 0.527 6 67 --- --- --- --- PASS ERCC6L 54821 broad.mit.edu 37 X 71425953 71425953 + Missense_Mutation SNP C A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chrX:71425953C>A uc004eaq.1 - 2 2761 c.2664G>T c.(2662-2664)GAG>GAT p.E888D PIN4_uc004eao.1_Intron|ERCC6L_uc004eap.1_Missense_Mutation_p.E765D NM_017669 NP_060139 Q2NKX8 ERC6L_HUMAN excision repair protein ERCC6-like 888 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol ATP binding|DNA binding|helicase activity|protein binding ovary(3) 3 Renal(35;0.156) GACGTAAAATCTCATCATCCT 0.348 5 58 --- --- --- --- PASS MAGEE1 57692 broad.mit.edu 37 X 75650843 75650843 + Silent SNP G A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chrX:75650843G>A uc004ecm.1 + 1 2727 c.2520G>A c.(2518-2520)CAG>CAA p.Q840Q NM_020932 NP_065983 Q9HCI5 MAGE1_HUMAN melanoma antigen family E, 1 840 Interaction with DTNA (By similarity).|MAGE 2. dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane breast(3)|ovary(1)|pancreas(1)|skin(1) 6 TTTTGATGCAGGTCCTAAGCT 0.502 7 61 --- --- --- --- PASS PCDH11X 27328 broad.mit.edu 37 X 91132791 91132791 + Missense_Mutation SNP C A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chrX:91132791C>A uc004efk.1 + 2 2397 c.1552C>A c.(1552-1554)CGT>AGT p.R518S PCDH11X_uc004efl.1_Missense_Mutation_p.R518S|PCDH11X_uc004efo.1_Missense_Mutation_p.R518S|PCDH11X_uc010nmv.1_Missense_Mutation_p.R518S|PCDH11X_uc004efm.1_Missense_Mutation_p.R518S|PCDH11X_uc004efn.1_Missense_Mutation_p.R518S|PCDH11X_uc004efh.1_Missense_Mutation_p.R518S|PCDH11X_uc004efj.1_Missense_Mutation_p.R518S NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 518 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 CCTGGATTGTCGTACAGGCAT 0.433 12 61 --- --- --- --- PASS PCDH11X 27328 broad.mit.edu 37 X 91133515 91133515 + Missense_Mutation SNP C T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chrX:91133515C>T uc004efk.1 + 2 3121 c.2276C>T c.(2275-2277)CCT>CTT p.P759L PCDH11X_uc004efl.1_Missense_Mutation_p.P759L|PCDH11X_uc004efo.1_Missense_Mutation_p.P759L|PCDH11X_uc010nmv.1_Missense_Mutation_p.P759L|PCDH11X_uc004efm.1_Missense_Mutation_p.P759L|PCDH11X_uc004efn.1_Missense_Mutation_p.P759L|PCDH11X_uc004efh.1_Missense_Mutation_p.P759L|PCDH11X_uc004efj.1_Missense_Mutation_p.P759L NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 759 Cadherin 7.|Extracellular (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 TTAGGACAGCCTGATTCTCTC 0.418 29 110 --- --- --- --- PASS BTK 695 broad.mit.edu 37 X 100611771 100611771 + Splice_Site SNP C A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chrX:100611771C>A uc004ehg.2 - 14 1542 c.1349_splice c.e14+1 p.M450_splice BTK_uc004ehf.2_Intron|BTK_uc010nnh.2_Intron|BTK_uc010nni.2_Intron|BTK_uc004ehe.2_Splice_Site|BTK_uc010nnj.2_Splice_Site|BTK_uc010nnk.2_Intron|BTK_uc010nnl.2_Splice_Site_p.M20_splice|BTK_uc010nnm.2_Splice_Site_p.M20_splice|BTK_uc010nnn.2_Intron|BTK_uc010nno.2_Splice_Site_p.M484_splice|BTK_uc004ehh.1_Splice_Site|BTK_uc004ehi.2_Splice_Site_p.M450_splice NM_000061 NP_000052 Q06187 BTK_HUMAN Bruton agammaglobulinemia tyrosine kinase calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development cytosol|membrane raft|nucleus|plasma membrane ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding lung(3)|central_nervous_system(2)|ovary(1) 6 CTATAACTCACATCATGACTT 0.428 Agammaglobulinemia_X-linked 34 211 --- --- --- --- PASS FAM199X 139231 broad.mit.edu 37 X 103432834 103432834 + Missense_Mutation SNP C A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chrX:103432834C>A uc004elw.2 + 5 1009 c.843C>A c.(841-843)AGC>AGA p.S281R FAM199X_uc004elx.2_Missense_Mutation_p.S98R NM_207318 NP_997201 Q6PEV8 F199X_HUMAN hypothetical protein LOC139231 281 Ser-rich. ovary(1) 1 CCAGTGCCAGCGCCAGCAGCA 0.567 20 190 --- --- --- --- PASS CLDN2 9075 broad.mit.edu 37 X 106171781 106171781 + Missense_Mutation SNP G T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chrX:106171781G>T uc004emq.1 + 2 842 c.323G>T c.(322-324)TGC>TTC p.C108F MORC4_uc004emp.3_Intron|CLDN2_uc004emt.1_Missense_Mutation_p.C108F NM_020384 NP_065117 P57739 CLD2_HUMAN claudin 2 108 Cytoplasmic (Potential). calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity ovary(1) 1 ACAGTCTTCTGCCAGGAATCC 0.547 9 145 --- --- --- --- PASS IL13RA2 3598 broad.mit.edu 37 X 114238647 114238647 + Missense_Mutation SNP G C C TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chrX:114238647G>C uc004epx.2 - 10 1264 c.1139C>G c.(1138-1140)ACA>AGA p.T380R NM_000640 NP_000631 Q14627 I13R2_HUMAN interleukin 13 receptor, alpha 2 precursor 380 Cytoplasmic (Potential). extracellular space|integral to membrane|soluble fraction cytokine receptor activity upper_aerodigestive_tract(1)|ovary(1)|lung(1) 3 AAGTCTTCATGTATCACAGAA 0.328 7 42 --- --- --- --- PASS PLS3 5358 broad.mit.edu 37 X 114880810 114880810 + Missense_Mutation SNP G A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chrX:114880810G>A uc004eqd.2 + 13 1856 c.1466G>A c.(1465-1467)GGG>GAG p.G489E PLS3_uc010nqg.2_Missense_Mutation_p.G271E|PLS3_uc011mtf.1_Missense_Mutation_p.G476E|PLS3_uc004eqe.2_Missense_Mutation_p.G489E|PLS3_uc011mtg.1_Missense_Mutation_p.G462E|PLS3_uc011mth.1_Missense_Mutation_p.G444E|PLS3_uc011mti.1_Missense_Mutation_p.G165E|PLS3_uc011mtj.1_Missense_Mutation_p.G83E|PLS3_uc011mtk.1_Missense_Mutation_p.G150E|PLS3_uc011mtl.1_RNA NM_005032 NP_005023 P13797 PLST_HUMAN plastin 3 489 Actin-binding 2.|CH 3. cytoplasm actin binding|calcium ion binding lung(1)|breast(1) 2 CTGAATGATGGGAACCAAACC 0.428 7 136 --- --- --- --- PASS PGRMC1 10857 broad.mit.edu 37 X 118377201 118377201 + Missense_Mutation SNP C A A TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chrX:118377201C>A uc004erb.2 + 3 688 c.572C>A c.(571-573)GCC>GAC p.A191D PGRMC1_uc011mts.1_Missense_Mutation_p.A139D NM_006667 NP_006658 O00264 PGRC1_HUMAN progesterone receptor membrane component 1 191 Cytoplasmic (Potential). cell surface|endoplasmic reticulum membrane|integral to membrane|microsome|nucleolus heme binding|protein binding|receptor activity|steroid binding 0 GATGAGAGTGCCCGGAAAAAT 0.408 5 58 --- --- --- --- PASS AKAP14 158798 broad.mit.edu 37 X 119053904 119053904 + Missense_Mutation SNP G C C TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chrX:119053904G>C uc004ese.2 + 6 610 c.472G>C c.(472-474)GAC>CAC p.D158H AKAP14_uc004esf.2_Missense_Mutation_p.D98H NM_178813 NP_848928 Q86UN6 AKA28_HUMAN A kinase (PRKA) anchor protein 14 isoform a 158 cytoplasm 0 TTATGTAGGTGACCACCAAGC 0.393 6 115 --- --- --- --- PASS HTATSF1 27336 broad.mit.edu 37 X 135593630 135593630 + Nonsense_Mutation SNP G T T TCGA-21-1076-01A-02D-1521-08 TCGA-21-1076-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 504d4cb0-d2dd-420d-82e6-9ec14434a0fc 578a4a76-b3a4-4c8e-9e54-b7ae27ac482f g.chrX:135593630G>T uc004ezw.2 + 10 2148 c.1726G>T c.(1726-1728)GAG>TAG p.E576* HTATSF1_uc004ezx.2_Nonsense_Mutation_p.E576* NM_001163280 NP_001156752 O43719 HTSF1_HUMAN HIV-1 Tat specific factor 1 576 Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex. regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication nucleus nucleotide binding|protein binding|RNA binding ovary(2)|breast(1) 3 Acute lymphoblastic leukemia(192;0.000127) AGATTTGGACGAGGAAGGTTC 0.393 13 64 --- --- --- --- PASS