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 AGRN 375790 broad.mit.edu 37 1 978953 978953 + Missense_Mutation SNP G A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr1:978953G>A uc001ack.1 + 9 1689 c.1639G>A c.(1639-1641)GAG>AAG p.E547K NM_198576 NP_940978 O00468 AGRIN_HUMAN agrin precursor 547 Kazal-like 6. axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering basal lamina laminin binding|structural constituent of cytoskeleton central_nervous_system(2)|breast(1) 3 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201) AGCCCTGTGCGAGGCCGAGAC 0.692 5 78 --- --- --- --- PASS AGRN 375790 broad.mit.edu 37 1 982720 982720 + Missense_Mutation SNP C A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr1:982720C>A uc001ack.1 + 20 3452 c.3402C>A c.(3400-3402)TTC>TTA p.F1134L NM_198576 NP_940978 O00468 AGRIN_HUMAN agrin precursor 1134 SEA. axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering basal lamina laminin binding|structural constituent of cytoskeleton central_nervous_system(2)|breast(1) 3 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201) CCAAGGTGTTCCAGGGCGTCC 0.657 19 64 --- --- --- --- PASS GPR157 80045 broad.mit.edu 37 1 9188713 9188713 + Missense_Mutation SNP T A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr1:9188713T>A uc001apq.1 - 1 517 c.374A>T c.(373-375)CAT>CTT p.H125L GPR157_uc010oad.1_Missense_Mutation_p.H125L|GPR157_uc001apr.2_Missense_Mutation_p.H125L|GPR157_uc001aps.2_Silent_p.P173P NM_024980 NP_079256 Q5UAW9 GP157_HUMAN G protein-coupled receptor 157 125 Helical; Name=4; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity 0 all_lung(157;0.185) all_epithelial(116;5.02e-20)|all_lung(118;3.6e-06)|Lung NSC(185;7.93e-06)|Renal(390;0.000147)|Breast(348;0.000688)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.16e-07)|COAD - Colon adenocarcinoma(227;7.73e-05)|Kidney(185;0.000252)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.00178)|BRCA - Breast invasive adenocarcinoma(304;0.00186)|READ - Rectum adenocarcinoma(331;0.0642) CCTGACGACATGGAAGGCCCA 0.667 15 26 --- --- --- --- PASS ALPL 249 broad.mit.edu 37 1 21894615 21894615 + Missense_Mutation SNP C T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr1:21894615C>T uc001bet.2 + 7 924 c.667C>T c.(667-669)CGG>TGG p.R223W ALPL_uc010odn.1_Missense_Mutation_p.R171W|ALPL_uc010odo.1_Missense_Mutation_p.R168W|ALPL_uc010odp.1_Missense_Mutation_p.R146W|ALPL_uc001beu.3_Missense_Mutation_p.R223W NM_000478 NP_000469 P05186 PPBT_HUMAN tissue-nonspecific alkaline phosphatase 223 R -> Q (in HOPS).|R -> W (in HOPS; 3% of activity; severe allele). response to vitamin D|skeletal system development anchored to membrane|cytoplasm|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding ovary(2)|central_nervous_system(2)|skin(1) 5 all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146) Amifostine(DB01143) GGGGGGTGGCCGGAAATACAT 0.557 28 88 --- --- --- --- PASS INPP5B 3633 broad.mit.edu 37 1 38330016 38330016 + Missense_Mutation SNP G A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr1:38330016G>A uc001ccg.1 - 23 2688 c.2594C>T c.(2593-2595)TCA>TTA p.S865L INPP5B_uc009vvk.1_Intron|INPP5B_uc001ccf.1_Missense_Mutation_p.S701L NM_005540 NP_005531 P32019 I5P2_HUMAN inositol polyphosphate-5-phosphatase, 75kDa 945 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to membrane|microtubule cytoskeleton GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding urinary_tract(1) 1 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) ATTTTTTGCTGAATTTTTCAG 0.398 6 50 --- --- --- --- PASS KIAA0467 23334 broad.mit.edu 37 1 43870165 43870165 + Nonsense_Mutation SNP G T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr1:43870165G>T uc009vws.1 + 4 526 c.442G>T c.(442-444)GAG>TAG p.E148* C1orf84_uc001cjh.2_Nonsense_Mutation_p.E146*|C1orf84_uc001cji.1_RNA Q5T011 SZT2_HUMAN Homo sapiens mRNA for KIAA0467 protein, partial cds. 148 peroxisome 0 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CTTCCAGCCTGAGATCTATGT 0.517 60 127 --- --- --- --- PASS PTCH2 8643 broad.mit.edu 37 1 45293826 45293826 + Missense_Mutation SNP C T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr1:45293826C>T uc010olf.1 - 14 1759 c.1747G>A c.(1747-1749)GAG>AAG p.E583K PTCH2_uc010olg.1_Missense_Mutation_p.E281K NM_003738 NP_003729 Q9Y6C5 PTC2_HUMAN patched 2 583 Cytoplasmic (Potential). protein complex assembly|spermatogenesis integral to plasma membrane hedgehog receptor activity lung(6)|breast(6)|central_nervous_system(3)|skin(2)|ovary(1) 18 Acute lymphoblastic leukemia(166;0.155) TCCCCCAGCTCCTGGGGCAGG 0.582 Basal_Cell_Nevus_syndrome 4 118 --- --- --- --- PASS COL24A1 255631 broad.mit.edu 37 1 86210415 86210415 + Missense_Mutation SNP C A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr1:86210415C>A uc001dlj.2 - 57 4648 c.4606G>T c.(4606-4608)GGC>TGC p.G1536C COL24A1_uc001dli.2_Missense_Mutation_p.G651C|COL24A1_uc010osd.1_Missense_Mutation_p.G836C|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA NM_152890 NP_690850 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 precursor 1536 Fibrillar collagen NC1. cell adhesion collagen extracellular matrix structural constituent ovary(3)|central_nervous_system(1)|skin(1) 5 all cancers(265;0.0627)|Epithelial(280;0.0689) TCTCGTGTGCCAAGAGGATTC 0.383 69 172 --- --- --- --- PASS SLC35A3 23443 broad.mit.edu 37 1 100477024 100477024 + Missense_Mutation SNP G A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr1:100477024G>A uc001dsp.1 + 5 766 c.569G>A c.(568-570)GGG>GAG p.G190E SLC35A3_uc001dsq.1_Missense_Mutation_p.G190E|SLC35A3_uc009wdy.1_Missense_Mutation_p.G190E|SLC35A3_uc001dsr.1_Missense_Mutation_p.G232E|SLC35A3_uc001dss.1_Missense_Mutation_p.G109E NM_012243 NP_036375 Q9Y2D2 S35A3_HUMAN solute carrier family 35 member 3A 190 UDP-N-acetylglucosamine metabolic process Golgi membrane|integral to membrane sugar:hydrogen symporter activity|UDP-N-acetylglucosamine transmembrane transporter activity 0 all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155) Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199) GGCTTTGCTGGGGTTTACTTT 0.338 13 128 --- --- --- --- PASS VCAM1 7412 broad.mit.edu 37 1 101188862 101188862 + Silent SNP A T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr1:101188862A>T uc001dti.2 + 3 747 c.627A>T c.(625-627)ACA>ACT p.T209T VCAM1_uc001dtj.2_Silent_p.T209T|VCAM1_uc010ouj.1_Silent_p.T147T NM_001078 NP_001069 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 isoform a 209 Ig-like C2-type 2.|Extracellular (Potential). heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding central_nervous_system(1) 1 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) CTGTGCCCACAGTAAGGCAGG 0.403 45 124 --- --- --- --- PASS SPAG17 200162 broad.mit.edu 37 1 118558758 118558758 + Missense_Mutation SNP G A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr1:118558758G>A uc001ehk.2 - 29 4185 c.4117C>T c.(4117-4119)CAT>TAT p.H1373Y NM_206996 NP_996879 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1373 cilium|flagellar axoneme|microtubule upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1) 6 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) GGAGGGTCATGGATTTCACCC 0.418 44 132 --- --- --- --- PASS ANKRD35 148741 broad.mit.edu 37 1 145566772 145566772 + Silent SNP G T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr1:145566772G>T uc001eob.1 + 11 2982 c.2874G>T c.(2872-2874)CTG>CTT p.L958L NBPF10_uc001emp.3_Intron NM_144698 NP_653299 Q8N283 ANR35_HUMAN ankyrin repeat domain 35 958 Potential. ovary(4)|skin(1) 5 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CCCTGCAGCTGCAGGTATGTT 0.498 4 71 --- --- --- --- PASS TTC24 164118 broad.mit.edu 37 1 156554721 156554721 + Missense_Mutation SNP G A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr1:156554721G>A uc009wsc.1 + 5 604 c.464G>A c.(463-465)GGG>GAG p.G155E NM_001105669 NP_001099139 A2A3L6 TTC24_HUMAN tetratricopeptide repeat domain 24 435 binding pancreas(1) 1 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CAGGCGGAGGGGACCCCAGCA 0.612 5 11 --- --- --- --- PASS CD1C 911 broad.mit.edu 37 1 158262570 158262570 + Missense_Mutation SNP G T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr1:158262570G>T uc001fru.2 + 4 1087 c.795G>T c.(793-795)CAG>CAT p.Q265H CD1C_uc001frv.2_Missense_Mutation_p.Q68H NM_001765 NP_001756 P29017 CD1C_HUMAN CD1C antigen precursor 265 Extracellular (Potential).|Ig-like. antigen processing and presentation|T cell activation involved in immune response endosome membrane|integral to plasma membrane endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding ovary(2)|skin(1)|pancreas(1) 4 all_hematologic(112;0.0378) GGTATCTTCAGGTGATCCTGG 0.517 15 135 --- --- --- --- PASS CD1E 913 broad.mit.edu 37 1 158324246 158324246 + Silent SNP C T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr1:158324246C>T uc001fse.2 + 2 377 c.138C>T c.(136-138)GCC>GCT p.A46A CD1E_uc010pid.1_Silent_p.A44A|CD1E_uc010pie.1_Intron|CD1E_uc010pif.1_Intron|CD1E_uc001fsd.2_Silent_p.A46A|CD1E_uc001fsk.2_Silent_p.A46A|CD1E_uc001fsj.2_Silent_p.A46A|CD1E_uc001fsc.2_Intron|CD1E_uc010pig.1_Intron|CD1E_uc001fsa.2_Intron|CD1E_uc001fsf.2_Silent_p.A46A|CD1E_uc001fry.2_Silent_p.A46A|CD1E_uc001fsg.2_Intron|CD1E_uc001fsh.2_Intron|CD1E_uc001fsi.2_Silent_p.A46A|CD1E_uc009wsv.2_Intron|CD1E_uc001frz.2_Silent_p.A46A|CD1E_uc009wsw.2_5'Flank NM_030893 NP_112155 P15812 CD1E_HUMAN CD1E antigen isoform a precursor 46 antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen skin(3) 3 all_hematologic(112;0.0378) CCTCCTTTGCCAACCACAGCT 0.567 25 205 --- --- --- --- PASS OR10T2 128360 broad.mit.edu 37 1 158368476 158368476 + Silent SNP G T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr1:158368476G>T uc010pih.1 - 1 781 c.781C>A c.(781-783)CGG>AGG p.R261R NM_001004475 NP_001004475 Q8NGX3 O10T2_HUMAN olfactory receptor, family 10, subfamily T, 261 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1) 3 all_hematologic(112;0.0378) GACTTGGGCCGCAGATAGATG 0.512 12 65 --- --- --- --- PASS SPTA1 6708 broad.mit.edu 37 1 158650461 158650461 + Missense_Mutation SNP T C C TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr1:158650461T>C uc001fst.1 - 5 789 c.590A>G c.(589-591)CAT>CGT p.H197R NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 197 Spectrin 3. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) AAATTTCTTATGCAGAACTTC 0.478 19 209 --- --- --- --- PASS SLAMF9 89886 broad.mit.edu 37 1 159921550 159921550 + Missense_Mutation SNP G C C TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr1:159921550G>C uc001fus.2 - 4 888 c.771C>G c.(769-771)ATC>ATG p.I257M SLAMF9_uc009wtd.2_Missense_Mutation_p.I166M|SLAMF9_uc001fut.2_3'UTR NM_033438 NP_254273 Q96A28 SLAF9_HUMAN SLAM family member 9 isoform 1 257 Helical; (Potential). integral to membrane ovary(1) 1 all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TCTGGACTCGGATGACCCAGA 0.498 38 257 --- --- --- --- PASS ITLN2 142683 broad.mit.edu 37 1 160917807 160917807 + Missense_Mutation SNP C A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr1:160917807C>A uc001fxd.2 - 7 795 c.737G>T c.(736-738)GGA>GTA p.G246V ITLN2_uc009wts.2_Missense_Mutation_p.G245V|ITLN2_uc010pju.1_Missense_Mutation_p.G163V NM_080878 NP_543154 Q8WWU7 ITLN2_HUMAN intelectin 2 precursor 246 Fibrinogen C-terminal. signal transduction extracellular region receptor binding|sugar binding ovary(1) 1 all_cancers(52;2.99e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) CTGAACGAATCCTGCAACAAA 0.468 42 98 --- --- --- --- PASS GPR161 23432 broad.mit.edu 37 1 168054995 168054995 + Missense_Mutation SNP A G G TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr1:168054995A>G uc001gfc.2 - 8 1678 c.1364T>C c.(1363-1365)GTA>GCA p.V455A GPR161_uc001gfb.2_Missense_Mutation_p.V323A|GPR161_uc010pll.1_Missense_Mutation_p.V365A|GPR161_uc010plm.1_Missense_Mutation_p.V341A|GPR161_uc009wvo.2_Missense_Mutation_p.V472A|GPR161_uc001gfd.2_Missense_Mutation_p.V455A|GPR161_uc010pln.1_Missense_Mutation_p.V475A NM_153832 NP_722561 Q8N6U8 GP161_HUMAN G protein-coupled receptor 161 isoform 2 455 Cytoplasmic (Potential). multicellular organismal development integral to membrane|plasma membrane G-protein coupled receptor activity 0 all_hematologic(923;0.215) GGACTTGTGTACTTCAGCTTT 0.517 21 86 --- --- --- --- PASS F5 2153 broad.mit.edu 37 1 169555541 169555541 + Silent SNP C A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr1:169555541C>A uc001ggg.1 - 1 229 c.84G>T c.(82-84)GCG>GCT p.A28A F5_uc010plr.1_RNA NM_000130 NP_000121 P12259 FA5_HUMAN coagulation factor V precursor 28 cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) TTAGCTGTGCCGCTTCTGTCC 0.617 22 53 --- --- --- --- PASS SLC9A11 284525 broad.mit.edu 37 1 173516829 173516829 + Missense_Mutation SNP A C C TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr1:173516829A>C uc001giz.2 - 13 1979 c.1556T>G c.(1555-1557)ATG>AGG p.M519R SLC9A11_uc009wwe.2_Missense_Mutation_p.M77R|SLC9A11_uc010pmq.1_RNA NM_178527 NP_848622 Q5TAH2 S9A11_HUMAN solute carrier family 9, member 11 519 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity ovary(2) 2 AGCACCAACCATTTGTATTGC 0.358 39 119 --- --- --- --- PASS TNR 7143 broad.mit.edu 37 1 175292496 175292496 + Silent SNP G A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr1:175292496G>A uc001gkp.1 - 21 4155 c.4074C>T c.(4072-4074)TTC>TTT p.F1358F TNR_uc009wwu.1_Silent_p.F1358F NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 1358 axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) CCACTGCTCAGAACTGTAAGG 0.458 26 147 --- --- --- --- PASS CACNA1E 777 broad.mit.edu 37 1 181707532 181707532 + Silent SNP G A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr1:181707532G>A uc001gow.2 + 24 3747 c.3582G>A c.(3580-3582)ACG>ACA p.T1194T CACNA1E_uc009wxs.2_Silent_p.T1082T|CACNA1E_uc001gox.1_Silent_p.T420T|CACNA1E_uc009wxt.2_Silent_p.T420T NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 1194 III.|Helical; Name=S2 of repeat III. energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 ATGTGTTCACGGGCGTGTTCA 0.473 105 376 --- --- --- --- PASS CACNA1E 777 broad.mit.edu 37 1 181767477 181767477 + Missense_Mutation SNP G C C TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr1:181767477G>C uc001gow.2 + 47 6485 c.6320G>C c.(6319-6321)AGC>ACC p.S2107T CACNA1E_uc009wxs.2_Missense_Mutation_p.S1995T|CACNA1E_uc009wxt.2_Missense_Mutation_p.S1376T NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 2150 Cytoplasmic (Potential). energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 TCTGACACCAGCACCCCAAGA 0.592 51 147 --- --- --- --- PASS TPR 7175 broad.mit.edu 37 1 186315403 186315403 + Missense_Mutation SNP C T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr1:186315403C>T uc001grv.2 - 23 3257 c.2960G>A c.(2959-2961)CGT>CAT p.R987H NM_003292 NP_003283 P12270 TPR_HUMAN nuclear pore complex-associated protein TPR 987 Potential. carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1) 7 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) AATATTCTTACGCACTTCTTC 0.308 T NTRK1 papillary thyroid 15 114 --- --- --- --- PASS PLA2G4A 5321 broad.mit.edu 37 1 186957614 186957614 + Missense_Mutation SNP G C C TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr1:186957614G>C uc001gsc.2 + 18 2429 c.2224G>C c.(2224-2226)GAG>CAG p.E742Q PLA2G4A_uc010pos.1_Missense_Mutation_p.E682Q NM_024420 NP_077734 P47712 PA24A_HUMAN cytosolic phospholipase A2, group IVA 742 phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation cytosol|endoplasmic reticulum membrane calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity lung(2)|breast(1) 3 Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103) TTTCAACAAGGAGTTTCTAAG 0.388 21 200 --- --- --- --- PASS KCNT2 343450 broad.mit.edu 37 1 196398707 196398707 + Missense_Mutation SNP C G G TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr1:196398707C>G uc001gtd.1 - 9 879 c.819G>C c.(817-819)CAG>CAC p.Q273H KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Missense_Mutation_p.Q273H|KCNT2_uc001gtf.1_Missense_Mutation_p.Q273H|KCNT2_uc001gtg.1_Intron|KCNT2_uc009wyu.2_Missense_Mutation_p.Q273H|KCNT2_uc009wyv.1_Missense_Mutation_p.Q248H NM_198503 NP_940905 Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 273 Helical; Name=Segment S6; (Potential). voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(5)|breast(1)|skin(1) 7 TTTTGTTTACCTGTATGGGTA 0.378 15 109 --- --- --- --- PASS F13B 2165 broad.mit.edu 37 1 197030095 197030095 + Missense_Mutation SNP C T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr1:197030095C>T uc001gtt.1 - 4 606 c.562G>A c.(562-564)GGA>AGA p.G188R NM_001994 NP_001985 P05160 F13B_HUMAN coagulation factor XIII B subunit precursor 188 Sushi 3. blood coagulation extracellular region upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 TTCTTTCCTCCAGCTGTGTAG 0.398 35 109 --- --- --- --- PASS IGFN1 91156 broad.mit.edu 37 1 201193963 201193963 + Missense_Mutation SNP G A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr1:201193963G>A uc001gwc.2 + 10 2699 c.1927G>A c.(1927-1929)GGG>AGG p.G643R IGFN1_uc001gwb.2_RNA NM_178275 NP_840059 RecName: Full=Immunoglobulin-like and fibronectin type III domain-containing protein 1; AltName: Full=EEF1A2-binding protein 1; AltName: Full=KY-interacting protein 1; ovary(2)|pancreas(1) 3 GACCCTGCAGGGGAAGGAGGT 0.602 8 53 --- --- --- --- PASS ADORA1 134 broad.mit.edu 37 1 203098306 203098306 + Missense_Mutation SNP C T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr1:203098306C>T uc001gze.1 + 3 770 c.337C>T c.(337-339)CTC>TTC p.L113F ADORA1_uc001gzf.1_Missense_Mutation_p.L113F|ADORA1_uc010pqg.1_5'UTR|ADORA1_uc009xak.1_5'UTR|ADORA1_uc010pqh.1_Missense_Mutation_p.L146F NM_000674 NP_000665 P30542 AA1R_HUMAN adenosine A1 receptor 113 Cytoplasmic (Potential). induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis integral to plasma membrane large_intestine(1) 1 Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277) CAAGATCCCTCTCCGGTGAGT 0.582 10 155 --- --- --- --- PASS KCTD3 51133 broad.mit.edu 37 1 215777494 215777494 + Nonsense_Mutation SNP G T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr1:215777494G>T uc001hks.2 + 13 1453 c.1159G>T c.(1159-1161)GAG>TAG p.E387* KCTD3_uc001hkt.2_Nonsense_Mutation_p.E387*|KCTD3_uc010pub.1_Nonsense_Mutation_p.E285*|KCTD3_uc009xdn.2_Nonsense_Mutation_p.E139* NM_016121 NP_057205 Q9Y597 KCTD3_HUMAN potassium channel tetramerisation domain 387 voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity ovary(3) 3 all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13) TAACTGGATCGAGATCGCCTA 0.443 29 161 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 215972274 215972274 + Missense_Mutation SNP T A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr1:215972274T>A uc001hku.1 - 50 10320 c.9933A>T c.(9931-9933)GAA>GAT p.E3311D NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 3311 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) ACACCACTCCTTCTTCTCCAC 0.502 HNSCC(13;0.011) 71 175 --- --- --- --- PASS ITPKB 3707 broad.mit.edu 37 1 226924302 226924302 + Silent SNP C G G TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr1:226924302C>G uc010pvo.1 - 2 1198 c.858G>C c.(856-858)CGG>CGC p.R286R ITPKB_uc001hqh.2_Silent_p.R286R NM_002221 NP_002212 P27987 IP3KB_HUMAN 1D-myo-inositol-trisphosphate 3-kinase B 286 ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity ovary(4)|central_nervous_system(1) 5 Prostate(94;0.0773) CTAGGCAGCTCCGAGTTCCCG 0.582 38 98 --- --- --- --- PASS RAB4A 5867 broad.mit.edu 37 1 229438704 229438704 + Missense_Mutation SNP G T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr1:229438704G>T uc001hth.2 + 7 845 c.637G>T c.(637-639)GCT>TCT p.A213S RAB4A_uc001hti.2_RNA|RAB4A_uc001htj.2_RNA|SPHAR_uc001htk.3_5'Flank NM_004578 NP_004569 P20338 RAB4A_HUMAN RAB4A, member RAS oncogene family 208 GDP binding|GTP binding|GTPase activity ovary(1) 1 Breast(184;0.0858)|Ovarian(103;0.103) Prostate(94;0.178) GGCCCCGAACGCTCAGGAGTG 0.577 57 140 --- --- --- --- PASS AGT 183 broad.mit.edu 37 1 230838938 230838938 + Silent SNP G T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr1:230838938G>T uc001hty.3 - 5 1915 c.1407C>A c.(1405-1407)GCC>GCA p.A469A AGT_uc009xfe.2_3'UTR|AGT_uc009xff.2_Silent_p.A441A NM_000029 NP_000020 P01019 ANGT_HUMAN angiotensinogen preproprotein 469 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation extracellular space|soluble fraction acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding 0 Breast(184;0.0735)|Ovarian(103;0.183) all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167) GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641) GCAGGGCAGTGGCGCTTTGAT 0.612 21 131 --- --- --- --- PASS SIPA1L2 57568 broad.mit.edu 37 1 232600907 232600907 + Silent SNP C A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr1:232600907C>A uc001hvg.2 - 7 2657 c.2499G>T c.(2497-2499)CTG>CTT p.L833L SIPA1L2_uc001hvf.2_5'Flank NM_020808 NP_065859 Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 833 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) TCTTCGCACCCAGCGTAATGA 0.532 70 193 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237870440 237870440 + Missense_Mutation SNP C A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr1:237870440C>A uc001hyl.1 + 68 9892 c.9772C>A c.(9772-9774)CCA>ACA p.P3258T RYR2_uc010pxz.1_Missense_Mutation_p.P213T NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 3258 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) TGAGAACAATCCAGAACGGGC 0.473 14 94 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237897051 237897051 + Missense_Mutation SNP G A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr1:237897051G>A uc001hyl.1 + 79 11206 c.11086G>A c.(11086-11088)GCA>ACA p.A3696T RYR2_uc010pya.1_Missense_Mutation_p.A92T NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 3696 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) AGATATTATGGCAAAGGTAAA 0.333 24 76 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237947095 237947095 + Missense_Mutation SNP C G G TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr1:237947095C>G uc001hyl.1 + 90 12203 c.12083C>G c.(12082-12084)TCG>TGG p.S4028W RYR2_uc010pya.1_Missense_Mutation_p.S443W NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 4028 EF-hand. 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) GATTTGACGTCGTCTGATACT 0.418 16 48 --- --- --- --- PASS OR2W5 441932 broad.mit.edu 37 1 247654673 247654673 + Missense_Mutation SNP C A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr1:247654673C>A uc001icz.1 + 1 244 c.244C>A c.(244-246)CTG>ATG p.L82M NM_001004698 NP_001004698 A6NFC9 OR2W5_HUMAN olfactory receptor, family 2, subfamily W, 82 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1)|skin(1) 3 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.222) OV - Ovarian serous cystadenocarcinoma(106;0.0188) CCCTCAGCTGCTGTGGAACCT 0.542 18 136 --- --- --- --- PASS CAD 790 broad.mit.edu 37 2 27447308 27447308 + Missense_Mutation SNP G T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr2:27447308G>T uc002rji.2 + 9 1366 c.1204G>T c.(1204-1206)GGG>TGG p.G402W CAD_uc010eyw.2_Missense_Mutation_p.G402W NM_004341 NP_004332 P27708 PYR1_HUMAN carbamoylphosphate synthetase 2/aspartate 402 CPSase (Carbamoyl-phosphate synthase).|CPSase A. 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) CCTGGGCTCAGGGGGCCTCTC 0.602 54 177 --- --- --- --- PASS TTC27 55622 broad.mit.edu 37 2 32865348 32865348 + Silent SNP G T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr2:32865348G>T uc002rom.2 + 4 639 c.408G>T c.(406-408)CTG>CTT p.L136L TTC27_uc010ymx.1_Silent_p.L86L NM_017735 NP_060205 Q6P3X3 TTC27_HUMAN tetratricopeptide repeat domain 27 136 protein binding central_nervous_system(1) 1 TTAAAGGACTGGATGCATTTG 0.333 21 83 --- --- --- --- PASS SPTBN1 6711 broad.mit.edu 37 2 54856314 54856314 + Silent SNP G T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr2:54856314G>T uc002rxu.2 + 14 2292 c.2043G>T c.(2041-2043)CGG>CGT p.R681R SPTBN1_uc002rxv.1_Silent_p.R681R|SPTBN1_uc002rxx.2_Silent_p.R668R NM_003128 NP_003119 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 isoform 1 681 Spectrin 4. actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton ovary(3)|breast(2)|central_nervous_system(2)|skin(1) 8 Lung(47;0.24) GCAAGCACCGGGCGTTCGAGG 0.597 19 66 --- --- --- --- PASS PNPT1 87178 broad.mit.edu 37 2 55899142 55899142 + Silent SNP G A A rs149239772 byFrequency TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr2:55899142G>A uc002rzf.2 - 10 959 c.906C>T c.(904-906)TAC>TAT p.Y302Y PNPT1_uc002rzg.2_RNA NM_033109 NP_149100 Q8TCS8 PNPT1_HUMAN polyribonucleotide nucleotidyltransferase 1 302 mRNA catabolic process|RNA processing plasma membrane 3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding 0 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) TGTCATGCTCGTAATCTGTAA 0.328 66 243 --- --- --- --- PASS C2orf86 51057 broad.mit.edu 37 2 63631360 63631360 + Missense_Mutation SNP G C C TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr2:63631360G>C uc002sch.2 - 10 1704 c.1258C>G c.(1258-1260)CGC>GGC p.R420G C2orf86_uc002sce.2_RNA|C2orf86_uc002scf.2_Missense_Mutation_p.R261G|C2orf86_uc010ypu.1_RNA|C2orf86_uc002scg.2_Missense_Mutation_p.R228G|C2orf86_uc002sci.1_Missense_Mutation_p.R396G|C2orf86_uc010fcr.1_Missense_Mutation_p.R310G NM_015910 NP_056994 O95876 FRITZ_HUMAN hypothetical protein LOC51057 isoform 2 420 cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization cilium axoneme|cytoplasm|cytoskeleton|plasma membrane 0 CTGGGTAAGCGGTCTTCAGCC 0.463 9 214 --- --- --- --- PASS CTNNA2 1496 broad.mit.edu 37 2 80773066 80773066 + Missense_Mutation SNP C G G TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr2:80773066C>G uc010ysh.1 + 10 1423 c.1418C>G c.(1417-1419)CCA>CGA p.P473R CTNNA2_uc010yse.1_Missense_Mutation_p.P473R|CTNNA2_uc010ysf.1_Missense_Mutation_p.P473R|CTNNA2_uc010ysg.1_Missense_Mutation_p.P473R|CTNNA2_uc010ysi.1_Missense_Mutation_p.P105R NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 473 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 GCTGCCCGGCCACAGAGCAAA 0.512 10 46 --- --- --- --- PASS TMEM131 23505 broad.mit.edu 37 2 98373570 98373570 + Missense_Mutation SNP C T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr2:98373570C>T uc002syh.3 - 41 5873 c.5644G>A c.(5644-5646)GAG>AAG p.E1882K TMEM131_uc002syg.2_Missense_Mutation_p.E262K NM_015348 NP_056163 Q92545 TM131_HUMAN RW1 protein 1882 integral to membrane ovary(4)|central_nervous_system(2) 6 ATTTAATTCTCGTGAGGAAAG 0.468 17 53 --- --- --- --- PASS MGAT4A 11320 broad.mit.edu 37 2 99294817 99294817 + Missense_Mutation SNP C A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr2:99294817C>A uc002sze.2 - 3 526 c.212G>T c.(211-213)CGT>CTT p.R71L MGAT4A_uc010fil.2_5'UTR NM_012214 NP_036346 Q9UM21 MGT4A_HUMAN alpha-1,3-mannosyl-glycoprotein 71 Lumenal (Potential). N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine extracellular region|Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding skin(1) 1 TGCTCCTACACGCTTGAACTG 0.323 42 193 --- --- --- --- PASS TSGA10 80705 broad.mit.edu 37 2 99635067 99635067 + Silent SNP A G G TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr2:99635067A>G uc002szg.3 - 17 2482 c.1854T>C c.(1852-1854)AAT>AAC p.N618N TSGA10_uc002szh.3_Silent_p.N618N|TSGA10_uc002szi.3_Silent_p.N618N|TSGA10_uc010fin.1_Silent_p.N618N NM_182911 NP_878915 Q9BZW7 TSG10_HUMAN testis specific, 10 618 Interaction with HIF1A (By similarity). spermatogenesis cytoplasm|nuclear membrane ovary(1)|central_nervous_system(1) 2 GTGTGACAACATTTCTGAACT 0.373 23 81 --- --- --- --- PASS GCC2 9648 broad.mit.edu 37 2 109103087 109103087 + Missense_Mutation SNP G C C TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr2:109103087G>C uc002tec.2 + 16 4067 c.3913G>C c.(3913-3915)GAG>CAG p.E1305Q GCC2_uc002ted.2_Missense_Mutation_p.E1204Q NM_181453 NP_852118 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain-containing 2 1305 Potential. Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding ovary(1) 1 ACTACAGGAAGAGTGCCGTGC 0.527 18 73 --- --- --- --- PASS RANBP2 5903 broad.mit.edu 37 2 109379867 109379867 + Missense_Mutation SNP G C C TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr2:109379867G>C uc002tem.3 + 20 2998 c.2872G>C c.(2872-2874)GGT>CGT p.G958R NM_006267 NP_006258 P49792 RBP2_HUMAN RAN binding protein 2 958 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(16) soft_tissue(16)|lung(1)|pancreas(1) 18 ATCGCCCAGGGGTGATGATTA 0.458 37 144 --- --- --- --- PASS RANBP2 5903 broad.mit.edu 37 2 109380026 109380026 + Missense_Mutation SNP C T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr2:109380026C>T uc002tem.3 + 20 3157 c.3031C>T c.(3031-3033)CCG>TCG p.P1011S NM_006267 NP_006258 P49792 RBP2_HUMAN RAN binding protein 2 1011 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(16) soft_tissue(16)|lung(1)|pancreas(1) 18 TCAGCCCATGCCGGGTGAAGG 0.393 5 302 --- --- --- --- PASS CKAP2L 150468 broad.mit.edu 37 2 113513644 113513644 + Missense_Mutation SNP G T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr2:113513644G>T uc002tie.2 - 4 1383 c.1304C>A c.(1303-1305)ACA>AAA p.T435K CKAP2L_uc002tif.2_Missense_Mutation_p.T24K|CKAP2L_uc010yxp.1_Missense_Mutation_p.T270K|CKAP2L_uc010yxq.1_Missense_Mutation_p.T270K NM_152515 NP_689728 Q8IYA6 CKP2L_HUMAN cytoskeleton associated protein 2-like 435 centrosome 0 TTTGGGAGCTGTCTTGTTCAG 0.408 134 466 --- --- --- --- PASS PSD4 23550 broad.mit.edu 37 2 113940807 113940807 + Silent SNP G A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr2:113940807G>A uc002tjc.2 + 2 957 c.774G>A c.(772-774)GAG>GAA p.E258E PSD4_uc002tjd.2_5'UTR|PSD4_uc002tje.2_Silent_p.E257E|PSD4_uc002tjf.2_5'Flank NM_012455 NP_036587 Q8NDX1 PSD4_HUMAN pleckstrin and Sec7 domain containing 4 258 regulation of ARF protein signal transduction cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity ovary(2) 2 CTTGCTCAGAGAACAGTGCTT 0.607 38 116 --- --- --- --- PASS CNTNAP5 129684 broad.mit.edu 37 2 125671848 125671848 + Missense_Mutation SNP C G G TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr2:125671848C>G uc002tno.2 + 24 4268 c.3904C>G c.(3904-3906)CGG>GGG p.R1302G CNTNAP5_uc010flu.2_Missense_Mutation_p.R1303G NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 1302 Cytoplasmic (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) CGAGTGTAAACGGGAATATTT 0.408 20 62 --- --- --- --- PASS NEB 4703 broad.mit.edu 37 2 152529183 152529183 + Missense_Mutation SNP C A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr2:152529183C>A uc010fnx.2 - 37 4190 c.3999G>T c.(3997-3999)AAG>AAT p.K1333N NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 1333 Nebulin 33. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) CATAAGCTTCCTTGTATTTAT 0.438 44 124 --- --- --- --- PASS SCN2A 6326 broad.mit.edu 37 2 166188012 166188012 + Silent SNP C A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr2:166188012C>A uc002udc.2 + 14 2612 c.2322C>A c.(2320-2322)CTC>CTA p.L774L SCN2A_uc002udd.2_Silent_p.L774L|SCN2A_uc002ude.2_Silent_p.L774L NM_001040142 NP_001035232 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha 774 II.|Helical; Name=S1 of repeat II; (Potential). myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|breast(1)|pancreas(1) 8 Lamotrigine(DB00555) TAAATACACTCTTCATGGCTA 0.453 58 172 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179431000 179431000 + Missense_Mutation SNP G T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr2:179431000G>T uc010zfg.1 - 275 72379 c.72155C>A c.(72154-72156)CCA>CAA p.P24052Q uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P17747Q|TTN_uc010zfi.1_Missense_Mutation_p.P17680Q|TTN_uc010zfj.1_Missense_Mutation_p.P17555Q NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 24979 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) CTCAGGCGTTGGACGACCTTT 0.418 6 410 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179641088 179641088 + Missense_Mutation SNP G T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr2:179641088G>T uc010zfg.1 - 28 5727 c.5503C>A c.(5503-5505)CAG>AAG p.Q1835K TTN_uc010zfh.1_Missense_Mutation_p.Q1789K|TTN_uc010zfi.1_Missense_Mutation_p.Q1789K|TTN_uc010zfj.1_Missense_Mutation_p.Q1789K|TTN_uc002unb.2_Missense_Mutation_p.Q1835K|uc002unc.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 1835 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) TTTTCTTTCTGATCTGTTGTT 0.473 72 272 --- --- --- --- PASS ALS2 57679 broad.mit.edu 37 2 202632082 202632082 + Silent SNP C T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr2:202632082C>T uc002uyo.2 - 3 401 c.45G>A c.(43-45)AAG>AAA p.K15K ALS2_uc002uyp.3_Silent_p.K15K|ALS2_uc002uyq.2_Silent_p.K15K|ALS2_uc002uyr.2_Silent_p.K15K NM_020919 NP_065970 Q96Q42 ALS2_HUMAN alsin isoform 1 15 cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity skin(5)|lung(1)|breast(1) 7 GGCCTCTTTCCTTGGATCCTT 0.448 36 61 --- --- --- --- PASS CDK15 65061 broad.mit.edu 37 2 202672269 202672269 + Missense_Mutation SNP G T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr2:202672269G>T uc002uyt.2 + 2 225 c.176G>T c.(175-177)GGA>GTA p.G59V CDK15_uc010ftm.2_5'UTR|CDK15_uc002uys.2_Missense_Mutation_p.G8V|CDK15_uc010ftn.1_Missense_Mutation_p.G8V|CDK15_uc010fto.1_Missense_Mutation_p.G59V NM_139158 NP_631897 Q96Q40 CDK15_HUMAN PFTAIRE protein kinase 2 59 ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding breast(2)|ovary(1)|lung(1)|kidney(1) 5 Adenosine triphosphate(DB00171) CACCCCAGGGGACTTCAAGCT 0.428 23 277 --- --- --- --- PASS C2orf67 151050 broad.mit.edu 37 2 211018231 211018231 + Missense_Mutation SNP T C C TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr2:211018231T>C uc002vds.2 - 2 1284 c.1076A>G c.(1075-1077)AAA>AGA p.K359R C2orf67_uc002vdt.2_Missense_Mutation_p.K359R|C2orf67_uc002vdw.2_Missense_Mutation_p.K359R|C2orf67_uc002vdy.1_Missense_Mutation_p.K359R|C2orf67_uc002vdv.2_Missense_Mutation_p.K359R|C2orf67_uc002vdx.1_Missense_Mutation_p.K359R NM_152519 NP_689732 A0AUZ9 CB067_HUMAN hypothetical protein LOC151050 359 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) TGCCACATTTTTTCTAAGGGT 0.363 34 120 --- --- --- --- PASS AQP12B 653437 broad.mit.edu 37 2 241621951 241621951 + Missense_Mutation SNP G C C TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr2:241621951G>C uc010fzj.2 - 1 367 c.304C>G c.(304-306)CTC>GTC p.L102V AQP12B_uc002vzt.2_RNA NM_001102467 NP_001095937 A6NM10 AQ12B_HUMAN aquaporin 12B 90 integral to membrane transporter activity 0 all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757) TCGGCCATGAGGAACTCCTGC 0.697 3 42 --- --- --- --- PASS CAND2 23066 broad.mit.edu 37 3 12861610 12861610 + Silent SNP C T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr3:12861610C>T uc003bxk.2 + 11 3019 c.2970C>T c.(2968-2970)GTC>GTT p.V990V CAND2_uc003bxj.2_Silent_p.V897V NM_001162499 NP_001155971 O75155 CAND2_HUMAN TBP-interacting protein isoform 1 990 HEAT 21. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding skin(3)|pancreas(1) 4 GGAGCACCGTCATCACAGCGG 0.587 28 70 --- --- --- --- PASS SCN11A 11280 broad.mit.edu 37 3 38938695 38938695 + Missense_Mutation SNP T C C TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr3:38938695T>C uc011ays.1 - 14 2243 c.2044A>G c.(2044-2046)AAA>GAA p.K682E SCN11A_uc010hhn.1_5'Flank NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha 682 Helical; Voltage-sensor; Name=S4 of repeat II; (By similarity).|II. 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) GGCCAGGATTTGGCTAACTTG 0.408 20 51 --- --- --- --- PASS CLEC3B 7123 broad.mit.edu 37 3 45077203 45077203 + Missense_Mutation SNP G T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr3:45077203G>T uc003cok.3 + 3 492 c.396G>T c.(394-396)TGG>TGT p.W132C CLEC3B_uc003col.2_Missense_Mutation_p.W90C NM_003278 NP_003269 P05452 TETN_HUMAN C-type lectin domain family 3, member B 132 C-type lectin. skeletal system development extracellular space protein binding|sugar binding 0 BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CCGAGATCTGGCTGGGCCTCA 0.677 6 49 --- --- --- --- PASS DNAH1 25981 broad.mit.edu 37 3 52361927 52361927 + Silent SNP G C C TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr3:52361927G>C uc011bef.1 + 6 1029 c.768G>C c.(766-768)CGG>CGC p.R256R DNAH1_uc003ddt.1_Silent_p.R256R NM_015512 NP_056327 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 256 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity large_intestine(3) 3 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) TTGACTGCCGGACTCCCAGAG 0.577 16 50 --- --- --- --- PASS NEK4 6787 broad.mit.edu 37 3 52745830 52745830 + Missense_Mutation SNP C T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr3:52745830C>T uc003dfq.3 - 16 2678 c.2489G>A c.(2488-2490)CGC>CAC p.R830H NEK4_uc011bej.1_Missense_Mutation_p.R741H NM_003157 NP_003148 P51957 NEK4_HUMAN NIMA-related kinase 4 830 cell division|mitosis nucleus ATP binding|metal ion binding|protein serine/threonine kinase activity large_intestine(1) 1 BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513) TTTCAACTGGCGAGCTTTCAC 0.333 33 350 --- --- --- --- PASS ARL13B 200894 broad.mit.edu 37 3 93722705 93722705 + Missense_Mutation SNP G T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr3:93722705G>T uc003drc.2 + 3 619 c.333G>T c.(331-333)ATG>ATT p.M111I ARL13B_uc010hop.2_Intron|ARL13B_uc003drd.2_Intron|ARL13B_uc003dre.2_Missense_Mutation_p.M96I|ARL13B_uc003drf.2_Missense_Mutation_p.M111I|ARL13B_uc003drg.2_Missense_Mutation_p.M8I NM_182896 NP_878899 Q3SXY8 AR13B_HUMAN ADP-ribosylation factor-like 2-like 1 isoform 1 111 GTP binding 0 AAGAGGCTATGTCAGAAATGC 0.403 23 183 --- --- --- --- PASS OR5H6 79295 broad.mit.edu 37 3 97983540 97983540 + Missense_Mutation SNP C A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr3:97983540C>A uc003dsi.1 + 1 412 c.412C>A c.(412-414)CGC>AGC p.R138S NM_001005479 NP_001005479 Q8NGV6 OR5H6_HUMAN olfactory receptor, family 5, subfamily H, 138 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|large_intestine(1) 3 GGCATATGATCGCTATGTAGC 0.373 37 282 --- --- --- --- PASS NIT2 56954 broad.mit.edu 37 3 100067652 100067652 + Missense_Mutation SNP C A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr3:100067652C>A uc003dtv.2 + 7 585 c.511C>A c.(511-513)CAG>AAG p.Q171K NIT2_uc011bha.1_Silent_p.A139A NM_020202 NP_064587 Q9NQR4 NIT2_HUMAN nitrilase family, member 2 171 CN hydrolase. nitrogen compound metabolic process omega-amidase activity ovary(1) 1 CCAAGGCTGCCAGCTGTTGGT 0.488 19 100 --- --- --- --- PASS ABI3BP 25890 broad.mit.edu 37 3 100471703 100471703 + Missense_Mutation SNP A T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr3:100471703A>T uc003dun.2 - 33 3002 c.2917T>A c.(2917-2919)TAT>AAT p.Y973N ABI3BP_uc003duj.2_Missense_Mutation_p.Y553N|ABI3BP_uc003duk.2_Missense_Mutation_p.Y682N|ABI3BP_uc003dul.2_Missense_Mutation_p.Y803N|ABI3BP_uc011bhd.1_Missense_Mutation_p.Y927N|ABI3BP_uc003dum.2_Missense_Mutation_p.Y384N NM_015429 NP_056244 Q7Z7G0 TARSH_HUMAN ABI gene family, member 3 (NESH) binding protein 973 extracellular space ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1) 4 AATTTTTTATACCATGTCCTT 0.423 42 191 --- --- --- --- PASS ZBTB11 27107 broad.mit.edu 37 3 101384599 101384599 + Silent SNP G A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr3:101384599G>A uc003dve.3 - 4 1062 c.832C>T c.(832-834)CTA>TTA p.L278L NM_014415 NP_055230 O95625 ZBT11_HUMAN zinc finger protein ZNF-U69274 278 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 TCAAAACTTAGTACAGAAGTA 0.353 34 156 --- --- --- --- PASS C3orf30 152405 broad.mit.edu 37 3 118865207 118865207 + Silent SNP A T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr3:118865207A>T uc003ecb.1 + 1 211 c.171A>T c.(169-171)CTA>CTT p.L57L IGSF11_uc003eby.2_5'Flank|IGSF11_uc003ebz.2_5'Flank|IGSF11_uc010hqs.2_5'Flank|C3orf30_uc011biw.1_Silent_p.L57L NM_152539 NP_689752 Q96M34 CC030_HUMAN hypothetical protein LOC152405 57 ovary(2) 2 GBM - Glioblastoma multiforme(114;0.222) AGACTGCCCTAAGAGTGCCTA 0.537 28 53 --- --- --- --- PASS CASR 846 broad.mit.edu 37 3 121975948 121975948 + Missense_Mutation SNP G A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr3:121975948G>A uc003eev.3 + 3 578 c.206G>A c.(205-207)CGC>CAC p.R69H CASR_uc003eew.3_Missense_Mutation_p.R69H NM_000388 NP_000379 P41180 CASR_HUMAN calcium-sensing receptor precursor 69 Extracellular (Potential). anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity ovary(4)|skin(2)|upper_aerodigestive_tract(1) 7 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) CGTGGGTTTCGCTGGTTACAG 0.373 5 230 --- --- --- --- PASS EEFSEC 60678 broad.mit.edu 37 3 128060231 128060231 + Silent SNP G A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr3:128060231G>A uc003eki.2 + 5 980 c.942G>A c.(940-942)GCG>GCA p.A314A EEFSEC_uc003ekj.2_Silent_p.A259A NM_021937 NP_068756 P57772 SELB_HUMAN eukaryotic elongation factor, 314 cytoplasm|nucleus GTP binding|GTPase activity|translation elongation factor activity ovary(1) 1 CTGTCCATGCGGCCCTCATCT 0.597 11 182 --- --- --- --- PASS C3orf37 56941 broad.mit.edu 37 3 129023455 129023455 + Missense_Mutation SNP C G G TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr3:129023455C>G uc003elt.2 + 7 940 c.852C>G c.(850-852)AGC>AGG p.S284R C3orf37_uc003elu.2_Missense_Mutation_p.S242R|C3orf37_uc003elv.2_Missense_Mutation_p.S284R|C3orf37_uc003elw.2_Missense_Mutation_p.S284R NM_020187 NP_064572 Q96FZ2 CC037_HUMAN hypothetical protein LOC56941 284 ovary(1) 1 GTGGCAGTAGCCAGAGGATGT 0.483 51 490 --- --- --- --- PASS ZIC1 7545 broad.mit.edu 37 3 147128091 147128091 + Silent SNP C T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr3:147128091C>T uc003ewe.2 + 1 911 c.192C>T c.(190-192)TTC>TTT p.F64F NM_003412 NP_003403 Q15915 ZIC1_HUMAN zinc finger protein of the cerebellum 1 64 behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 AGACGGCCTTCACGTCGCAGG 0.692 6 55 --- --- --- --- PASS SI 6476 broad.mit.edu 37 3 164748556 164748556 + Missense_Mutation SNP C T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr3:164748556C>T uc003fei.2 - 25 2898 c.2836G>A c.(2836-2838)GAT>AAT p.D946N NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 946 Lumenal.|P-type 2.|Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) AAATCTGCATCTGGATAACAA 0.328 HNSCC(35;0.089) 142 225 --- --- --- --- PASS SLITRK3 22865 broad.mit.edu 37 3 164908581 164908581 + Missense_Mutation SNP C A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr3:164908581C>A uc003fej.3 - 2 482 c.38G>T c.(37-39)AGG>ATG p.R13M SLITRK3_uc003fek.2_Missense_Mutation_p.R13M NM_014926 NP_055741 O94933 SLIK3_HUMAN slit and trk like 3 protein precursor 13 integral to membrane ovary(6)|skin(3)|pancreas(1) 10 CCACAACATCCTTCCTCTGTG 0.398 HNSCC(40;0.11) 14 180 --- --- --- --- PASS LRRIQ4 344657 broad.mit.edu 37 3 169540063 169540063 + Silent SNP C T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr3:169540063C>T uc003fgb.2 + 1 354 c.354C>T c.(352-354)CAC>CAT p.H118H NM_001080460 NP_001073929 A6NIV6 LRIQ4_HUMAN leucine-rich repeats and IQ motif containing 4 118 LRR 5. 0 GCTTCCTCCACGCCCTGCGCG 0.612 15 229 --- --- --- --- PASS SLC7A14 57709 broad.mit.edu 37 3 170198095 170198095 + Missense_Mutation SNP G A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr3:170198095G>A uc003fgz.2 - 7 2292 c.1976C>T c.(1975-1977)GCG>GTG p.A659V CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron NM_020949 NP_066000 Q8TBB6 S7A14_HUMAN solute carrier family 7 (cationic amino acid 659 Helical; (Potential). integral to membrane amino acid transmembrane transporter activity ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1) 5 all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137) Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12) GCACCAGACCGCAAACCGGAT 0.498 5 415 --- --- --- --- PASS TTC14 151613 broad.mit.edu 37 3 180327959 180327959 + Missense_Mutation SNP G C C TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr3:180327959G>C uc003fkk.2 + 12 2074 c.1942G>C c.(1942-1944)GAA>CAA p.E648Q TTC14_uc003fkl.2_3'UTR|TTC14_uc003fkm.2_Intron NM_133462 NP_597719 Q96N46 TTC14_HUMAN tetratricopeptide repeat domain 14 isoform a 648 RNA binding ovary(1) 1 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) TAGGAGATTTGAAAAGGATAT 0.393 24 224 --- --- --- --- PASS LAMP3 27074 broad.mit.edu 37 3 182870216 182870216 + Missense_Mutation SNP A G G TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr3:182870216A>G uc003flh.3 - 3 1059 c.835T>C c.(835-837)TCC>CCC p.S279P NM_014398 NP_055213 Q9UQV4 LAMP3_HUMAN lysosomal-associated membrane protein 3 279 Lumenal (Potential). cell proliferation integral to membrane|lysosomal membrane ovary(2)|central_nervous_system(1) 3 all_cancers(143;9.14e-14)|Ovarian(172;0.0355) all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21) AGAAGGTTGGATTTTCGGGTG 0.468 53 552 --- --- --- --- PASS ATP13A3 79572 broad.mit.edu 37 3 194147857 194147857 + Silent SNP A C C TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr3:194147857A>C uc003fty.3 - 28 3474 c.3072T>G c.(3070-3072)GGT>GGG p.G1024G ATP13A3_uc003ftx.3_5'Flank NM_024524 NP_078800 Q9H7F0 AT133_HUMAN ATPase type 13A3 1024 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(1) 1 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) CCCAAAAAAAACCCAAAGATT 0.388 17 148 --- --- --- --- PASS GABRB1 2560 broad.mit.edu 37 4 47427824 47427824 + Missense_Mutation SNP G T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr4:47427824G>T uc003gxh.2 + 9 1588 c.1214G>T c.(1213-1215)CGC>CTC p.R405L GABRB1_uc011bze.1_Missense_Mutation_p.R335L NM_000812 NP_000803 P18505 GBRB1_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 405 Cytoplasmic (Probable). synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2) 2 Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) ATCCAGTACCGCAAGCCCCTG 0.662 17 22 --- --- --- --- PASS FRYL 285527 broad.mit.edu 37 4 48512145 48512145 + Silent SNP G C C TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr4:48512145G>C uc003gyh.1 - 59 8930 c.8325C>G c.(8323-8325)CTC>CTG p.L2775L FRYL_uc003gyf.1_Silent_p.L171L|FRYL_uc003gyg.1_Silent_p.L1471L NM_015030 NP_055845 O94915 FRYL_HUMAN furry-like 2775 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding skin(1) 1 CACCAAACTTGAGTGTTTCCA 0.408 48 119 --- --- --- --- PASS UGT2B11 10720 broad.mit.edu 37 4 70080107 70080107 + Missense_Mutation SNP C G G TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr4:70080107C>G uc003heh.2 - 1 343 c.334G>C c.(334-336)GAA>CAA p.E112Q uc003hei.1_Intron NM_001073 NP_001064 O75310 UDB11_HUMAN UDP glucuronosyltransferase 2 family, 112 estrogen metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 3 ATTTCTTGTTCTTGTGAAAAA 0.289 12 164 --- --- --- --- PASS ADAMTS3 9508 broad.mit.edu 37 4 73178143 73178143 + Nonsense_Mutation SNP C A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr4:73178143C>A uc003hgk.1 - 13 1823 c.1786G>T c.(1786-1788)GAG>TAG p.E596* ADAMTS3_uc003hgl.2_5'Flank NM_014243 NP_055058 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 596 TSP type-1 1. collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding ovary(1)|lung(1) 2 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) AGCTGGTACTCAAAATTAACA 0.428 4 148 --- --- --- --- PASS HERC6 55008 broad.mit.edu 37 4 89326086 89326086 + Missense_Mutation SNP A T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr4:89326086A>T uc011cdi.1 + 9 1334 c.1151A>T c.(1150-1152)CAG>CTG p.Q384L HERC6_uc011cdj.1_Missense_Mutation_p.Q384L|HERC6_uc011cdk.1_Intron|HERC6_uc011cdl.1_Intron NM_017912 NP_060382 Q8IVU3 HERC6_HUMAN hect domain and RLD 6 isoform 1 384 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytosol ubiquitin-protein ligase activity lung(3)|ovary(1)|kidney(1) 5 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000222) CGAATTAGCCAGTCCATGGCA 0.423 71 92 --- --- --- --- PASS BANK1 55024 broad.mit.edu 37 4 102946555 102946555 + Missense_Mutation SNP G A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr4:102946555G>A uc003hvy.3 + 9 1757 c.1483G>A c.(1483-1485)GAT>AAT p.D495N BANK1_uc003hvx.3_Missense_Mutation_p.D480N|BANK1_uc010ill.2_Missense_Mutation_p.D362N|BANK1_uc003hvz.3_Missense_Mutation_p.D465N NM_017935 NP_060405 Q8NDB2 BANK1_HUMAN B-cell scaffold protein with ankyrin repeats 1 495 B cell activation ovary(2)|skin(1) 3 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.7e-07) TCCTGGTGCTGATCCAGAAAA 0.502 13 104 --- --- --- --- PASS C4orf31 79625 broad.mit.edu 37 4 121958642 121958642 + Missense_Mutation SNP A G G TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr4:121958642A>G uc003idq.1 - 4 1011 c.484T>C c.(484-486)TAT>CAT p.Y162H NM_024574 NP_078850 Q8TB73 CD031_HUMAN hypothetical protein LOC79625 precursor 162 0 GTGGTGGCATATACTTTGAAA 0.448 95 150 --- --- --- --- PASS ANKRD50 57182 broad.mit.edu 37 4 125590641 125590641 + Nonsense_Mutation SNP G C C TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr4:125590641G>C uc003ifg.3 - 3 4057 c.3791C>G c.(3790-3792)TCA>TGA p.S1264* ANKRD50_uc011cgo.1_Nonsense_Mutation_p.S1085*|ANKRD50_uc010inw.2_Nonsense_Mutation_p.S1264* NM_020337 NP_065070 Q9ULJ7 ANR50_HUMAN ankyrin repeat domain 50 1264 Ser-rich. central_nervous_system(1) 1 TGCTTTAGTTGACTTCAAACT 0.403 48 632 --- --- --- --- PASS PCDH10 57575 broad.mit.edu 37 4 134072945 134072945 + Missense_Mutation SNP C A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr4:134072945C>A uc003iha.2 + 1 2476 c.1650C>A c.(1648-1650)AGC>AGA p.S550R uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.S550R NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 550 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) ACGCTGGCAGCCCCCAGGCGC 0.587 25 138 --- --- --- --- PASS ZNF827 152485 broad.mit.edu 37 4 146824008 146824008 + Missense_Mutation SNP C A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr4:146824008C>A uc003ikn.2 - 2 451 c.403G>T c.(403-405)GAT>TAT p.D135Y ZNF827_uc003ikm.2_Missense_Mutation_p.D135Y|ZNF827_uc010iox.2_Intron NM_178835 NP_849157 Q17R98 ZN827_HUMAN zinc finger protein 827 135 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_hematologic(180;0.151) GCTGCAGCATCGAGTTTGAGG 0.597 3 52 --- --- --- --- PASS ZNF827 152485 broad.mit.edu 37 4 146824215 146824215 + Missense_Mutation SNP A T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr4:146824215A>T uc003ikn.2 - 2 244 c.196T>A c.(196-198)TCC>ACC p.S66T ZNF827_uc003ikm.2_Missense_Mutation_p.S66T|ZNF827_uc010iox.2_Intron NM_178835 NP_849157 Q17R98 ZN827_HUMAN zinc finger protein 827 66 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_hematologic(180;0.151) GTGTCCGGGGACGTGGACTGC 0.567 49 106 --- --- --- --- PASS TLR2 7097 broad.mit.edu 37 4 154624198 154624198 + Missense_Mutation SNP C T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr4:154624198C>T uc003inq.2 + 3 358 c.139C>T c.(139-141)CCC>TCC p.P47S TLR2_uc003inr.2_Missense_Mutation_p.P47S|TLR2_uc003ins.2_Missense_Mutation_p.P47S NM_003264 NP_003255 O60603 TLR2_HUMAN toll-like receptor 2 precursor 47 Extracellular (Potential). cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding ovary(1)|lung(1)|breast(1) 3 all_hematologic(180;0.093) Renal(120;0.117) AAACTCCATTCCCTCAGGGCT 0.498 4 208 --- --- --- --- PASS RAPGEF2 9693 broad.mit.edu 37 4 160244614 160244614 + Missense_Mutation SNP G T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr4:160244614G>T uc003iqg.3 + 5 821 c.511G>T c.(511-513)GAC>TAC p.D171Y NM_014247 NP_055062 Q9Y4G8 RPGF2_HUMAN Rap guanine nucleotide exchange factor 2 171 cNMP. cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity lung(2)|upper_aerodigestive_tract(1)|skin(1) 4 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.0817) GGATTAGCTGGACTCCTGGTC 0.398 58 103 --- --- --- --- PASS IRF2 3660 broad.mit.edu 37 4 185320124 185320124 + Silent SNP C T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr4:185320124C>T uc003iwf.3 - 7 839 c.639G>A c.(637-639)CCG>CCA p.P213P NM_002199 NP_002190 P14316 IRF2_HUMAN interferon regulatory factor 2 213 blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway focal adhesion|nucleoplasm DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592) all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419) TCATGCTGACCGGCTGCTCGT 0.587 55 100 --- --- --- --- PASS KIAA0947 23379 broad.mit.edu 37 5 5461158 5461158 + Nonsense_Mutation SNP G T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr5:5461158G>T uc003jdm.3 + 13 1933 c.1711G>T c.(1711-1713)GAA>TAA p.E571* NM_015325 NP_056140 Q9Y2F5 K0947_HUMAN hypothetical protein LOC23379 571 ovary(1)|central_nervous_system(1) 2 ACGAATTAATGAAATCACTTC 0.378 66 266 --- --- --- --- PASS KIAA0947 23379 broad.mit.edu 37 5 5464055 5464055 + Silent SNP G A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr5:5464055G>A uc003jdm.3 + 13 4830 c.4608G>A c.(4606-4608)GCG>GCA p.A1536A NM_015325 NP_056140 Q9Y2F5 K0947_HUMAN hypothetical protein LOC23379 1536 ovary(1)|central_nervous_system(1) 2 AGATTGTTGCGTCTGATCACA 0.348 5 59 --- --- --- --- PASS FAM134B 54463 broad.mit.edu 37 5 16477887 16477887 + Missense_Mutation SNP G A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr5:16477887G>A uc003jfs.2 - 8 922 c.884C>T c.(883-885)ACG>ATG p.T295M FAM134B_uc003jfr.2_Missense_Mutation_p.T154M NM_001034850 NP_001030022 Q9H6L5 F134B_HUMAN hypothetical protein LOC54463 isoform 1 295 sensory perception of pain cis-Golgi network|endoplasmic reticulum|integral to membrane ovary(2)|breast(1) 3 GGCAGCAACCGTGAGGCTAAT 0.413 6 198 --- --- --- --- PASS CDH9 1007 broad.mit.edu 37 5 26906200 26906200 + Missense_Mutation SNP C T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr5:26906200C>T uc003jgs.1 - 5 848 c.679G>A c.(679-681)GAA>AAA p.E227K CDH9_uc010iug.2_Missense_Mutation_p.E227K NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 227 Extracellular (Potential).|Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1) 9 TCTCTATTTTCTCTGCTCATG 0.413 31 196 --- --- --- --- PASS RICTOR 253260 broad.mit.edu 37 5 38960533 38960533 + Silent SNP G A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr5:38960533G>A uc003jlp.2 - 20 1842 c.1818C>T c.(1816-1818)TGC>TGT p.C606C RICTOR_uc003jlo.2_Silent_p.C606C|RICTOR_uc010ivf.2_Silent_p.C321C NM_152756 NP_689969 Q6R327 RICTR_HUMAN rapamycin-insensitive companion of mTOR 606 actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation cytosol|TORC2 complex protein binding ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1) 10 all_lung(31;0.000396) CTGTAAACTGGCAACCTACAA 0.398 25 204 --- --- --- --- PASS GZMK 3003 broad.mit.edu 37 5 54320565 54320565 + Missense_Mutation SNP G A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr5:54320565G>A uc003jpl.1 + 2 186 c.142G>A c.(142-144)GGA>AGA p.G48R NM_002104 NP_002095 P49863 GRAK_HUMAN granzyme K precursor 48 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity 0 Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183) CCAGTATGGCGGACATCACGT 0.473 13 45 --- --- --- --- PASS NLN 57486 broad.mit.edu 37 5 65083989 65083989 + Missense_Mutation SNP G C C TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr5:65083989G>C uc003juf.2 + 8 1119 c.1003G>C c.(1003-1005)GAG>CAG p.E335Q NLN_uc003jue.2_Missense_Mutation_p.E335Q|NLN_uc003jug.2_Missense_Mutation_p.E164Q|NLN_uc010iww.2_Missense_Mutation_p.E30Q NM_020726 NP_065777 Q9BYT8 NEUL_HUMAN neurolysin precursor 335 proteolysis mitochondrial intermembrane space metal ion binding|metalloendopeptidase activity central_nervous_system(1) 1 Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186) UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616) AGCAGAACGAGAGTTTATTTT 0.368 29 203 --- --- --- --- PASS RAD17 5884 broad.mit.edu 37 5 68677865 68677865 + Silent SNP C T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr5:68677865C>T uc003jwo.2 + 4 584 c.522C>T c.(520-522)TTC>TTT p.F174F RAD17_uc003jwg.2_Silent_p.F163F|RAD17_uc003jwh.2_Silent_p.F163F|RAD17_uc003jwi.2_Silent_p.F163F|RAD17_uc003jwj.2_Silent_p.F163F|RAD17_uc003jwk.2_Silent_p.F163F|RAD17_uc003jwl.2_Silent_p.F163F|RAD17_uc003jwm.2_5'UTR|RAD17_uc003jwn.2_Silent_p.F77F NM_133339 NP_579917 O75943 RAD17_HUMAN RAD17 homolog isoform 2 174 cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation nucleoplasm ATP binding|nucleoside-triphosphatase activity|protein binding 0 Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183) AAGATGATTTCAAGGGGATGT 0.388 Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes 11 142 --- --- --- --- PASS VCAN 1462 broad.mit.edu 37 5 82837222 82837222 + Missense_Mutation SNP A C C TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr5:82837222A>C uc003kii.3 + 8 8756 c.8400A>C c.(8398-8400)GAA>GAC p.E2800D VCAN_uc003kij.3_Missense_Mutation_p.E1813D|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.E1464D NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 2800 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding ovary(7)|skin(6)|lung(2)|central_nervous_system(1) 16 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) ATGTGATGGAAGGATCCAATC 0.448 25 272 --- --- --- --- PASS FAM174A 345757 broad.mit.edu 37 5 99871540 99871540 + Missense_Mutation SNP A T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr5:99871540A>T uc003knj.1 + 1 426 c.306A>T c.(304-306)GAA>GAT p.E102D uc003kni.2_5'Flank NM_198507 NP_940909 Q8TBP5 F174A_HUMAN family with sequence similarity 174, member A 102 Extracellular (Potential). integral to membrane 0 AGGCCGGGGAAGGCTCGGTGG 0.706 6 9 --- --- --- --- PASS SLCO4C1 353189 broad.mit.edu 37 5 101593694 101593694 + Missense_Mutation SNP A G G TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr5:101593694A>G uc003knm.2 - 7 1513 c.1226T>C c.(1225-1227)ATA>ACA p.I409T NM_180991 NP_851322 Q6ZQN7 SO4C1_HUMAN solute carrier organic anion transporter family, 409 Extracellular (Potential). cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis basolateral plasma membrane|integral to membrane sodium-independent organic anion transmembrane transporter activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1) 4 all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486) Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986) TTGATTTTCTATAAATTTAGG 0.289 11 145 --- --- --- --- PASS FBN2 2201 broad.mit.edu 37 5 127782240 127782240 + Missense_Mutation SNP C G G TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr5:127782240C>G uc003kuu.2 - 7 1325 c.886G>C c.(886-888)GTG>CTG p.V296L FBN2_uc003kuv.2_Missense_Mutation_p.V263L|FBN2_uc003kuw.3_Missense_Mutation_p.V296L|FBN2_uc003kux.1_Missense_Mutation_p.V296L NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 296 EGF-like 4; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) AAAGAGCCCACTGTATTGATA 0.433 35 170 --- --- --- --- PASS MATR3 9782 broad.mit.edu 37 5 138658546 138658546 + Missense_Mutation SNP G T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr5:138658546G>T uc003ldu.2 + 15 2465 c.2038G>T c.(2038-2040)GAT>TAT p.D680Y MATR3_uc010jfb.2_Missense_Mutation_p.D680Y|MATR3_uc003ldt.2_Missense_Mutation_p.D342Y|MATR3_uc003ldw.2_Missense_Mutation_p.D680Y|MATR3_uc003ldx.2_Missense_Mutation_p.D680Y|MATR3_uc010jfc.2_Missense_Mutation_p.D680Y|MATR3_uc003ldy.2_Missense_Mutation_p.D357Y|MATR3_uc011czb.1_Missense_Mutation_p.D392Y|MATR3_uc003ldz.2_Missense_Mutation_p.D680Y|MATR3_uc003lea.2_Missense_Mutation_p.D680Y|MATR3_uc003leb.2_Missense_Mutation_p.D342Y|MATR3_uc003lec.2_Missense_Mutation_p.D357Y NM_199189 NP_954659 P43243 MATR3_HUMAN matrin 3 680 nuclear inner membrane|nuclear matrix nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) AGACGAGACCGATCTTGCTAA 0.428 13 82 --- --- --- --- PASS PSD2 84249 broad.mit.edu 37 5 139193192 139193192 + Missense_Mutation SNP C T T rs147042685 byFrequency TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr5:139193192C>T uc003leu.1 + 3 875 c.670C>T c.(670-672)CGC>TGC p.R224C NM_032289 NP_115665 Q9BQI7 PSD2_HUMAN pleckstrin and Sec7 domain containing 2 224 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCCCCTGCGGCGCTCCATCTC 0.662 4 33 --- --- --- --- PASS PCDHB3 56132 broad.mit.edu 37 5 140481580 140481580 + Silent SNP C A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr5:140481580C>A uc003lio.2 + 1 1347 c.1347C>A c.(1345-1347)CCC>CCA p.P449P uc003lin.2_Intron NM_018937 NP_061760 Q9Y5E6 PCDB3_HUMAN protocadherin beta 3 precursor 449 Extracellular (Potential).|Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACAACGCCCCCGCCTTCACCC 0.562 51 142 --- --- --- --- PASS PCDHB5 26167 broad.mit.edu 37 5 140515035 140515035 + Missense_Mutation SNP A G G TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr5:140515035A>G uc003liq.2 + 1 236 c.19A>G c.(19-21)AAA>GAA p.K7E NM_015669 NP_056484 Q9Y5E4 PCDB5_HUMAN protocadherin beta 5 precursor 7 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding skin(3)|ovary(2) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGCGCTAGCAAAAACGCCACA 0.463 8 132 --- --- --- --- PASS PCDHGB5 56101 broad.mit.edu 37 5 140778610 140778610 + Missense_Mutation SNP G C C TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr5:140778610G>C uc003lkf.1 + 1 916 c.916G>C c.(916-918)GAA>CAA p.E306Q PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Missense_Mutation_p.E306Q NM_018925 NP_061748 Q9Y5G0 PCDGH_HUMAN protocadherin gamma subfamily B, 5 isoform 1 306 Extracellular (Potential).|Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACTGGATTTTGAAGAGACCAA 0.373 24 241 --- --- --- --- PASS LARS 51520 broad.mit.edu 37 5 145557152 145557152 + Missense_Mutation SNP C T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr5:145557152C>T uc003lnx.1 - 2 321 c.83G>A c.(82-84)AGA>AAA p.R28K LARS_uc011dbq.1_Missense_Mutation_p.R28K|LARS_uc011dbr.1_Intron|LARS_uc011dbs.1_Missense_Mutation_p.R28K NM_020117 NP_064502 Q9P2J5 SYLC_HUMAN leucyl-tRNA synthetase 28 leucyl-tRNA aminoacylation cytosol ATP binding|leucine-tRNA ligase activity|protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Leucine(DB00149) CTCAAACACTCTCTCAGTATC 0.328 13 154 --- --- --- --- PASS GFOD1 54438 broad.mit.edu 37 6 13365729 13365729 + Missense_Mutation SNP A G G TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr6:13365729A>G uc003nat.1 - 2 1084 c.419T>C c.(418-420)GTG>GCG p.V140A GFOD1_uc003nas.1_Missense_Mutation_p.V37A NM_018988 NP_061861 Q9NXC2 GFOD1_HUMAN glucose-fructose oxidoreductase domain 140 extracellular region binding|oxidoreductase activity ovary(2) 2 Breast(50;0.0296)|Ovarian(93;0.0454) all_hematologic(90;0.135) Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108) CGGCTCGCCCACGTAGCCCTC 0.652 10 20 --- --- --- --- PASS HIST1H2BC 8347 broad.mit.edu 37 6 26123851 26123851 + Missense_Mutation SNP C A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr6:26123851C>A uc003ngk.3 - 1 304 c.282G>T c.(280-282)GAG>GAT p.E94D HIST1H2BC_uc003ngl.2_Missense_Mutation_p.E94D|HIST1H2AC_uc003ngm.2_5'Flank|HIST1H2AC_uc003ngn.2_5'Flank|HIST1H2AC_uc003ngo.2_5'Flank|HIST1H2AC_uc003ngp.2_5'Flank NM_003526 NP_003517 P62807 H2B1C_HUMAN histone cluster 1, H2bc 94 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding ovary(1) 1 CCGTCTGGATCTCCCTGGAGG 0.597 49 108 --- --- --- --- PASS OR10C1 442194 broad.mit.edu 37 6 29408320 29408320 + Missense_Mutation SNP C A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr6:29408320C>A uc011dlp.1 + 1 528 c.528C>A c.(526-528)TTC>TTA p.F176L OR11A1_uc010jrh.1_Intron NM_013941 NP_039229 Q96KK4 O10C1_HUMAN olfactory receptor, family 10, subfamily C, 176 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TCCCGCAGTTCTTCTGTGAGA 0.592 108 162 --- --- --- --- PASS TNXB 7148 broad.mit.edu 37 6 32026137 32026137 + Missense_Mutation SNP C T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr6:32026137C>T uc003nzl.2 - 22 7725 c.7523G>A c.(7522-7524)AGC>AAC p.S2508N NM_019105 NP_061978 P22105 TENX_HUMAN tenascin XB isoform 1 precursor 2568 actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 TTCTGTAGGGCTGGGGGTCTC 0.587 6 33 --- --- --- --- PASS ABCC10 89845 broad.mit.edu 37 6 43400184 43400184 + Missense_Mutation SNP C A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr6:43400184C>A uc003ouy.1 + 3 681 c.466C>A c.(466-468)CAG>AAG p.Q156K ABCC10_uc003ouz.1_Missense_Mutation_p.Q113K NM_033450 NP_258261 Q5T3U5 MRP7_HUMAN ATP-binding cassette, sub-family C, member 10 156 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(6)|central_nervous_system(1) 7 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) GTGGCATTGCCAGCGAGGCAC 0.642 9 310 --- --- --- --- PASS GPR110 266977 broad.mit.edu 37 6 46977837 46977837 + Missense_Mutation SNP T C C TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr6:46977837T>C uc003oyt.2 - 11 1533 c.1334A>G c.(1333-1335)TAC>TGC p.Y445C GPR110_uc011dwl.1_Missense_Mutation_p.Y133C NM_153840 NP_722582 Q5T601 GP110_HUMAN G-protein coupled receptor 110 isoform 1 445 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(2)|pancreas(1) 3 CTGATAGCTGTAACCCCTTTT 0.443 53 164 --- --- --- --- PASS HCRTR2 3062 broad.mit.edu 37 6 55113587 55113587 + Missense_Mutation SNP C G G TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr6:55113587C>G uc003pcl.2 + 2 689 c.374C>G c.(373-375)TCC>TGC p.S125C HCRTR2_uc010jzv.2_RNA|HCRTR2_uc010jzw.1_Missense_Mutation_p.S60C NM_001526 NP_001517 O43614 OX2R_HUMAN orexin receptor 2 125 Extracellular (Potential). feeding behavior integral to plasma membrane neuropeptide receptor activity ovary(2)|lung(2)|upper_aerodigestive_tract(1)|breast(1) 6 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) TTTGGACAGTCCCTTTGCAAA 0.423 16 441 --- --- --- --- PASS GFRAL 389400 broad.mit.edu 37 6 55198628 55198628 + Missense_Mutation SNP C A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr6:55198628C>A uc003pcm.1 + 3 288 c.202C>A c.(202-204)CTG>ATG p.L68M NM_207410 NP_997293 Q6UXV0 GFRAL_HUMAN GDNF family receptor alpha like precursor 68 Extracellular (Potential). integral to membrane receptor activity ovary(1)|breast(1) 2 Lung NSC(77;0.0875)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) ATACTGTAACCTGAGTATCCA 0.348 31 243 --- --- --- --- PASS BAI3 577 broad.mit.edu 37 6 69653876 69653876 + Silent SNP T G G TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr6:69653876T>G uc003pev.3 + 6 1633 c.1185T>G c.(1183-1185)GCT>GCG p.A395A BAI3_uc010kak.2_Silent_p.A395A NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 395 Extracellular (Potential).|TSP type-1 2. negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1) 50 all_lung(197;0.212) GTAATATTGCTCTTTGCCCAG 0.418 17 163 --- --- --- --- PASS BAI3 577 broad.mit.edu 37 6 70070787 70070787 + Nonsense_Mutation SNP C T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr6:70070787C>T uc003pev.3 + 29 4070 c.3622C>T c.(3622-3624)CGA>TGA p.R1208* BAI3_uc010kak.2_Nonsense_Mutation_p.R1208*|BAI3_uc011dxx.1_Nonsense_Mutation_p.R414* NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1208 Cytoplasmic (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1) 50 all_lung(197;0.212) TGGTCCTTGCCGAGCAGCCAC 0.358 28 112 --- --- --- --- PASS ZNF292 23036 broad.mit.edu 37 6 87970021 87970021 + Missense_Mutation SNP C G G TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr6:87970021C>G uc003plm.3 + 8 6715 c.6674C>G c.(6673-6675)TCT>TGT p.S2225C NM_015021 NP_055836 O60281 ZN292_HUMAN zinc finger protein 292 2225 C2H2-type 13. 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) GAGTGTAAATCTTCATTTACT 0.378 29 227 --- --- --- --- PASS C6orf165 154313 broad.mit.edu 37 6 88138405 88138405 + Missense_Mutation SNP G T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr6:88138405G>T uc003plv.2 + 9 1114 c.1022G>T c.(1021-1023)GGT>GTT p.G341V C6orf165_uc003plw.2_Missense_Mutation_p.G153V|C6orf165_uc010kbv.1_RNA|C6orf165_uc003plu.1_Missense_Mutation_p.G341V NM_001031743 NP_001026913 Q8IYR0 CF165_HUMAN hypothetical protein LOC154313 isoform 1 341 central_nervous_system(1) 1 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0419) ATTGTGGTTGGTGTCCTCAGT 0.408 57 263 --- --- --- --- PASS MANEA 79694 broad.mit.edu 37 6 96034548 96034548 + Missense_Mutation SNP G T T rs144076192 byFrequency TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr6:96034548G>T uc003poo.1 + 2 373 c.233G>T c.(232-234)AGT>ATT p.S78I MANEA_uc003pon.2_Missense_Mutation_p.S78I NM_024641 NP_078917 Q5SRI9 MANEA_HUMAN mannosidase, endo-alpha 78 Catalytic (Probable).|Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane glycoprotein endo-alpha-1,2-mannosidase activity ovary(2)|breast(1) 3 all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341) BRCA - Breast invasive adenocarcinoma(108;0.148) AATTTAAAAAGTGTTGAAATC 0.328 60 183 --- --- --- --- PASS GRIK2 2898 broad.mit.edu 37 6 102307216 102307216 + Nonsense_Mutation SNP C T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr6:102307216C>T uc003pqp.3 + 10 1621 c.1372C>T c.(1372-1374)CGA>TGA p.R458* GRIK2_uc003pqn.2_Nonsense_Mutation_p.R458*|GRIK2_uc003pqo.3_Nonsense_Mutation_p.R458*|GRIK2_uc010kcw.2_Nonsense_Mutation_p.R458* NM_021956 NP_068775 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 458 Extracellular (Potential). glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity ovary(2)|pancreas(1)|breast(1)|skin(1) 5 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) TGGTAATGATCGATTTGAAGG 0.363 8 119 --- --- --- --- PASS RFX6 222546 broad.mit.edu 37 6 117241518 117241518 + Missense_Mutation SNP G A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr6:117241518G>A uc003pxm.2 + 12 1291 c.1228G>A c.(1228-1230)GTG>ATG p.V410M NM_173560 NP_775831 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 410 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding ovary(1)|pancreas(1)|skin(1) 3 TAATTCTATGGTGTCTGATAT 0.408 54 368 --- --- --- --- PASS MYB 4602 broad.mit.edu 37 6 135507145 135507145 + Missense_Mutation SNP G T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr6:135507145G>T uc003qfc.2 + 2 327 c.128G>T c.(127-129)TGG>TTG p.W43L MYB_uc003qfh.2_Missense_Mutation_p.W43L|MYB_uc003qfi.2_Missense_Mutation_p.W43L|MYB_uc010kgi.2_Missense_Mutation_p.W43L|MYB_uc003qfq.2_Missense_Mutation_p.W43L|MYB_uc010kgj.2_Missense_Mutation_p.W43L|MYB_uc003qfo.2_Missense_Mutation_p.W43L|MYB_uc003qfu.2_Missense_Mutation_p.W43L|MYB_uc003qfl.2_RNA|MYB_uc003qfv.2_RNA|MYB_uc003qfz.2_RNA|MYB_uc003qfx.2_RNA|MYB_uc003qga.2_RNA|MYB_uc003qgb.2_RNA|MYB_uc010kgk.2_RNA|MYB_uc003qfd.2_RNA|MYB_uc003qfe.2_RNA|MYB_uc003qfg.2_RNA|MYB_uc003qff.2_RNA|MYB_uc003qfj.2_RNA|MYB_uc003qfm.2_RNA|MYB_uc003qfp.2_RNA|MYB_uc003qfn.2_RNA|MYB_uc003qfk.2_RNA|MYB_uc003qfr.2_RNA|MYB_uc003qfs.2_5'UTR|MYB_uc003qft.2_RNA|MYB_uc003qfw.2_5'UTR|MYB_uc003qfy.2_RNA|MYB_uc003qgc.2_RNA|MYB_uc003qfb.1_Missense_Mutation_p.W43L|MYB_uc003qgd.1_5'Flank NM_005375 NP_005366 P10242 MYB_HUMAN v-myb myeloblastosis viral oncogene homolog 43 HTH myb-type 1. blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear matrix DNA binding|protein binding lung(1) 1 all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221) Lung NSC(302;3.08e-05)|Ovarian(999;0.208) OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117) AAAACAAGGTGGACCCGGGAA 0.403 T NFIB adenoid cystic carcinoma 4 146 --- --- --- --- PASS TXLNB 167838 broad.mit.edu 37 6 139581568 139581568 + Missense_Mutation SNP C T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr6:139581568C>T uc011eds.1 - 6 1054 c.889G>A c.(889-891)GAC>AAC p.D297N NM_153235 NP_694967 Q8N3L3 TXLNB_HUMAN taxilin beta 297 Potential. cytoplasm large_intestine(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235) AATATTTTGTCCAGATGCTAA 0.388 16 72 --- --- --- --- PASS SASH1 23328 broad.mit.edu 37 6 148840988 148840988 + Nonsense_Mutation SNP G T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr6:148840988G>T uc003qme.1 + 10 1643 c.1168G>T c.(1168-1170)GAG>TAG p.E390* SASH1_uc011eeb.1_Nonsense_Mutation_p.E151* NM_015278 NP_056093 O94885 SASH1_HUMAN SAM and SH3 domain containing 1 390 protein binding central_nervous_system(1) 1 Ovarian(120;0.0169) OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701) CTCCCTCACCGAGGGGGAGAT 0.572 5 24 --- --- --- --- PASS LATS1 9113 broad.mit.edu 37 6 150005649 150005649 + Silent SNP C A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr6:150005649C>A uc003qmu.1 - 4 1124 c.576G>T c.(574-576)CCG>CCT p.P192P LATS1_uc010kif.1_Silent_p.P87P|LATS1_uc003qmv.1_Silent_p.P192P|LATS1_uc003qmw.2_Silent_p.P192P|LATS1_uc010kig.1_Silent_p.P87P NM_004690 NP_004681 O95835 LATS1_HUMAN LATS homolog 1 192 cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation microtubule organizing center|spindle pole ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity lung(5)|central_nervous_system(1) 6 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116) CTCCTAGTGGCGGGCCATGCC 0.448 22 84 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152770771 152770771 + Missense_Mutation SNP G C C TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr6:152770771G>C uc010kiw.2 - 28 4003 c.3401C>G c.(3400-3402)TCT>TGT p.S1134C SYNE1_uc003qot.3_Missense_Mutation_p.S1141C|SYNE1_uc003qou.3_Missense_Mutation_p.S1134C|SYNE1_uc010kjb.1_Missense_Mutation_p.S1117C|SYNE1_uc003qow.2_Missense_Mutation_p.S429C|SYNE1_uc003qox.1_Missense_Mutation_p.S650C NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1134 HAT 2.|Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TGAGAACTCAGAGAATCTGAA 0.373 HNSCC(10;0.0054) 33 99 --- --- --- --- PASS SYTL3 94120 broad.mit.edu 37 6 159166633 159166633 + Missense_Mutation SNP G A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr6:159166633G>A uc003qrp.2 + 11 1221 c.977G>A c.(976-978)TGC>TAC p.C326Y SYTL3_uc011efp.1_Missense_Mutation_p.C326Y|SYTL3_uc003qro.2_Missense_Mutation_p.C258Y|SYTL3_uc003qrq.2_Missense_Mutation_p.C258Y|SYTL3_uc003qrr.2_Missense_Mutation_p.C326Y|SYTL3_uc003qrs.2_Missense_Mutation_p.C258Y|SYTL3_uc011efq.1_Missense_Mutation_p.C52Y NM_001009991 NP_001009991 Q4VX76 SYTL3_HUMAN synaptotagmin-like 3 326 C2 1. intracellular protein transport endomembrane system|membrane Rab GTPase binding 0 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06) TTAGAAATATGCATCAAGGCC 0.328 8 87 --- --- --- --- PASS SLC22A1 6580 broad.mit.edu 37 6 160543159 160543159 + Missense_Mutation SNP G T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr6:160543159G>T uc003qtc.2 + 1 297 c.192G>T c.(190-192)TGG>TGT p.W64C SLC22A1_uc003qtd.2_Missense_Mutation_p.W64C NM_003057 NP_003048 O15245 S22A1_HUMAN solute carrier family 22 member 1 isoform a 64 Extracellular (Potential). basolateral plasma membrane|integral to plasma membrane|membrane fraction organic cation transmembrane transporter activity|protein binding 0 Breast(66;0.000776)|Ovarian(120;0.00556) OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06) GCTGTGGCTGGAGCCCTGCGG 0.642 36 136 --- --- --- --- PASS TNRC18 84629 broad.mit.edu 37 7 5391596 5391596 + Missense_Mutation SNP G A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr7:5391596G>A uc003soi.3 - 17 5673 c.5324C>T c.(5323-5325)CCC>CTC p.P1775L TNRC18_uc003soj.2_Missense_Mutation_p.P157L NM_001080495 NP_001073964 O15417 TNC18_HUMAN trinucleotide repeat containing 18 1775 DNA binding 0 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) GGTCAGCTTGGGGCCACCAGC 0.647 13 50 --- --- --- --- PASS TWISTNB 221830 broad.mit.edu 37 7 19748468 19748468 + Missense_Mutation SNP C A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr7:19748468C>A uc003sup.1 - 1 193 c.172G>T c.(172-174)GCG>TCG p.A58S NM_001002926 NP_001002926 Q3B726 RPA43_HUMAN TWIST neighbor 58 microtubule cytoskeleton|nucleolus DNA-directed RNA polymerase activity ovary(1) 1 GGCGACAGCGCGATGTGCCTT 0.592 OREG0017879 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 49 --- --- --- --- PASS DNAH11 8701 broad.mit.edu 37 7 21751351 21751351 + Missense_Mutation SNP G A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr7:21751351G>A uc003svc.2 + 43 6908 c.6877G>A c.(6877-6879)GAG>AAG p.E2293K NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2293 AAA 2 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 CGCCAGCAATGAGCGCATTGC 0.522 Kartagener_syndrome 7 175 --- --- --- --- PASS ELMO1 9844 broad.mit.edu 37 7 37172782 37172782 + Missense_Mutation SNP C T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr7:37172782C>T uc003tfk.1 - 14 1451 c.1144G>A c.(1144-1146)GAC>AAC p.D382N ELMO1_uc011kbc.1_Missense_Mutation_p.D286N|ELMO1_uc010kxg.1_Missense_Mutation_p.D382N NM_014800 NP_055615 Q92556 ELMO1_HUMAN engulfment and cell motility 1 isoform 1 382 ELMO. actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding ovary(3)|skin(2)|upper_aerodigestive_tract(1) 6 AGCATGTTGTCCAGAGCCAAC 0.448 11 109 --- --- --- --- PASS INHBA 3624 broad.mit.edu 37 7 41729898 41729898 + Missense_Mutation SNP C A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr7:41729898C>A uc003thq.2 - 2 866 c.631G>T c.(631-633)GTA>TTA p.V211L INHBA_uc003thr.2_Missense_Mutation_p.V211L NM_002192 NP_002183 P08476 INHBA_HUMAN inhibin beta A precursor 211 cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway activin A complex|inhibin A complex cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity lung(5)|ovary(1) 6 CGAGCGTCTACTACTTTTTCA 0.592 TSP Lung(11;0.080) 33 72 --- --- --- --- PASS HECW1 23072 broad.mit.edu 37 7 43283525 43283525 + Missense_Mutation SNP T A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr7:43283525T>A uc003tid.1 + 3 626 c.21T>A c.(19-21)AGT>AGA p.S7R HECW1_uc011kbi.1_Missense_Mutation_p.S7R|HECW1_uc003tie.1_Intron NM_015052 NP_055867 Q76N89 HECW1_HUMAN NEDD4-like ubiquitin-protein ligase 1 7 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1) 23 ACCTGTGTAGTGTGAAGGTCA 0.463 5 171 --- --- --- --- PASS OGDH 4967 broad.mit.edu 37 7 44687346 44687346 + Missense_Mutation SNP A C C TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr7:44687346A>C uc003tln.2 + 4 614 c.505A>C c.(505-507)ACA>CCA p.T169P OGDH_uc003tlm.2_Missense_Mutation_p.T169P|OGDH_uc011kbx.1_Intron|OGDH_uc011kby.1_Intron|OGDH_uc003tlp.2_Intron|OGDH_uc011kbz.1_Silent_p.P15P|OGDH_uc003tlo.1_5'UTR NM_002541 NP_002532 Q02218 ODO1_HUMAN oxoglutarate dehydrogenase isoform 1 precursor 169 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding upper_aerodigestive_tract(1)|ovary(1) 2 NADH(DB00157) TATCTCATCCACAGACAAACT 0.577 34 106 --- --- --- --- PASS ZNF107 51427 broad.mit.edu 37 7 64168413 64168413 + Silent SNP G A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr7:64168413G>A uc003ttd.2 + 7 2517 c.1731G>A c.(1729-1731)GAG>GAA p.E577E ZNF107_uc003tte.2_Silent_p.E577E NM_016220 NP_057304 Q9UII5 ZN107_HUMAN zinc finger protein 107 577 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Lung NSC(55;0.00948)|all_lung(88;0.0249) ATACTGGAGAGAACCTCTACA 0.338 6 197 --- --- --- --- PASS POM121 9883 broad.mit.edu 37 7 72409131 72409131 + Silent SNP C G G TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr7:72409131C>G uc003twk.2 + 6 1278 c.1278C>G c.(1276-1278)CTC>CTG p.L426L POM121_uc003twj.2_Silent_p.L161L|POM121_uc010lam.1_Silent_p.L161L NM_172020 NP_742017 Q96HA1 P121A_HUMAN nuclear pore membrane protein 121 426 Ser-rich.|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) ATTTTTAGCTCTGGAAGAGAA 0.473 71 231 --- --- --- --- PASS TRIM74 378108 broad.mit.edu 37 7 75034322 75034322 + Silent SNP C T T rs150021451 TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr7:75034322C>T uc003udc.1 + 4 896 c.696C>T c.(694-696)TTC>TTT p.F232F TRIM74_uc010ldc.2_Silent_p.F232F|TRIM74_uc010ldd.2_Silent_p.F232F NM_198924 NP_944606 Q86UV6 TRI74_HUMAN tripartite motif-containing 73 232 Potential. intracellular zinc ion binding 0 TGGAACAGTTCGGCAATGAGG 0.657 4 163 --- --- --- --- PASS STEAP1 26872 broad.mit.edu 37 7 89793811 89793811 + Silent SNP C T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr7:89793811C>T uc003ujx.2 + 5 983 c.783C>T c.(781-783)TCC>TCT p.S261S NM_012449 NP_036581 Q9UHE8 STEA1_HUMAN six transmembrane epithelial antigen of the 261 Ferric oxidoreductase.|Helical; (Potential). electron transport chain|ion transport|iron ion homeostasis cell-cell junction|endosome membrane|integral to plasma membrane channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity 0 all_hematologic(106;0.112) GAATTGTTTCCCTTCTACTGG 0.368 39 378 --- --- --- --- PASS PDK4 5166 broad.mit.edu 37 7 95223028 95223028 + Missense_Mutation SNP G T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr7:95223028G>T uc003uoa.2 - 3 647 c.327C>A c.(325-327)GAC>GAA p.D109E PDK4_uc003unz.2_5'Flank NM_002612 NP_002603 Q16654 PDK4_HUMAN pyruvate dehydrogenase kinase 4 precursor 109 glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity 0 all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0151) ATGCTTTCTGGTCATCTGGGC 0.323 29 175 --- --- --- --- PASS MEPCE 56257 broad.mit.edu 37 7 100028427 100028427 + Silent SNP G A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr7:100028427G>A uc003uuw.2 + 1 899 c.786G>A c.(784-786)CGG>CGA p.R262R ZCWPW1_uc003uut.2_5'Flank|ZCWPW1_uc011kjr.1_5'Flank|ZCWPW1_uc003uuu.1_5'Flank|ZCWPW1_uc011kjt.1_5'Flank|ZCWPW1_uc011kju.1_5'Flank|MEPCE_uc003uuv.2_5'UTR NM_019606 NP_062552 Q7L2J0 MEPCE_HUMAN bin3, bicoid-interacting 3 262 methyltransferase activity upper_aerodigestive_tract(1) 1 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GTCGGAAGCGGCATAGACACC 0.597 5 345 --- --- --- --- PASS ZAN 7455 broad.mit.edu 37 7 100388590 100388590 + Missense_Mutation SNP G T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr7:100388590G>T uc003uwj.2 + 41 7549 c.7384G>T c.(7384-7386)GGG>TGG p.G2462W ZAN_uc003uwk.2_Missense_Mutation_p.G2462W|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kke.1_Intron NM_003386 NP_003377 Q9Y493 ZAN_HUMAN zonadhesin isoform 3 2462 VWFD 4.|Extracellular (Potential). binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2) 11 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) CATGTACGAGGGGCTTGTGAG 0.483 13 21 --- --- --- --- PASS ACHE 43 broad.mit.edu 37 7 100490047 100490047 + Silent SNP C G G TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr7:100490047C>G uc003uxd.2 - 2 1617 c.1461G>C c.(1459-1461)GGG>GGC p.G487G UFSP1_uc003uxc.3_5'Flank|ACHE_uc003uxe.2_Silent_p.G487G|ACHE_uc003uxf.2_Silent_p.G487G|ACHE_uc003uxg.2_Silent_p.G487G|ACHE_uc003uxh.2_Silent_p.G399G|ACHE_uc003uxi.2_Silent_p.G487G NM_000665 NP_000656 P22303 ACES_HUMAN acetylcholinesterase isoform E4-E6 precursor 487 acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity skin(2) 2 Lung NSC(181;0.041)|all_lung(186;0.0581) Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199) CCAGGGGGATCCCAAAGATGA 0.607 21 71 --- --- --- --- PASS RELN 5649 broad.mit.edu 37 7 103191681 103191681 + Missense_Mutation SNP C G G TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr7:103191681C>G uc003vca.2 - 41 6295 c.6135G>C c.(6133-6135)AGG>AGC p.R2045S RELN_uc010liz.2_Missense_Mutation_p.R2045S NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 2045 BNR 9. 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) CCCCGAAGTCCCTTGAAAATT 0.537 11 85 --- --- --- --- PASS SYPL1 6856 broad.mit.edu 37 7 105733500 105733500 + Missense_Mutation SNP T C C TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr7:105733500T>C uc003vdp.2 - 5 622 c.540A>G c.(538-540)ATA>ATG p.I180M SYPL1_uc003vdo.2_Missense_Mutation_p.I162M NM_006754 NP_006745 Q16563 SYPL1_HUMAN synaptophysin-like 1 isoform a 180 Vesicular (Potential).|MARVEL. synaptic transmission cytoplasmic vesicle membrane|integral to plasma membrane|melanosome|synaptic vesicle transporter activity 0 GACCAGTAGCTATTTTAATAT 0.398 24 43 --- --- --- --- PASS FEZF1 389549 broad.mit.edu 37 7 121942175 121942175 + Missense_Mutation SNP C G G TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr7:121942175C>G uc003vkd.2 - 4 1378 c.1304G>C c.(1303-1305)GGC>GCC p.G435A FEZF1_uc003vkc.2_Missense_Mutation_p.G385A|uc010lko.1_5'Flank NM_001024613 NP_001019784 A0PJY2 FEZF1_HUMAN FEZ family zinc finger 1 isoform 1 435 Pro-rich. cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|breast(1) 3 GCCTGGTTCGCCAGCTGGCGT 0.373 6 49 --- --- --- --- PASS SLC13A1 6561 broad.mit.edu 37 7 122763268 122763268 + Missense_Mutation SNP A G G TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr7:122763268A>G uc003vkm.2 - 12 1287 c.1262T>C c.(1261-1263)CTG>CCG p.L421P SLC13A1_uc010lks.2_Missense_Mutation_p.L297P NM_022444 NP_071889 Q9BZW2 S13A1_HUMAN solute carrier family 13 (sodium/sulfate 421 integral to membrane|plasma membrane sodium:sulfate symporter activity ovary(2) 2 Succinic acid(DB00139) CCAAGTAATCAGTGGAGAGTA 0.398 52 186 --- --- --- --- PASS GRM8 2918 broad.mit.edu 37 7 126249443 126249443 + Silent SNP G T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr7:126249443G>T uc003vlr.2 - 7 1778 c.1467C>A c.(1465-1467)GGC>GGA p.G489G GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Silent_p.G489G|GRM8_uc010lkz.1_RNA NM_000845 NP_000836 O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 isoform a 489 Extracellular (Potential). negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1) 23 Prostate(267;0.186) L-Glutamic Acid(DB00142) TGGTCCAGTGGCCGATGACTT 0.378 HNSCC(24;0.065) 61 265 --- --- --- --- PASS TMEM140 55281 broad.mit.edu 37 7 134849492 134849492 + Missense_Mutation SNP C T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr7:134849492C>T uc003vsi.2 + 2 580 c.299C>T c.(298-300)CCT>CTT p.P100L C7orf49_uc003vsh.2_Intron NM_018295 NP_060765 Q9NV12 TM140_HUMAN transmembrane protein 140 100 Cytoplasmic (Potential). integral to membrane large_intestine(1) 1 GCCCCCCAGCCTCTCCTCCTA 0.682 4 140 --- --- --- --- PASS SSPO 23145 broad.mit.edu 37 7 149510794 149510794 + Missense_Mutation SNP T C C TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr7:149510794T>C uc010lpk.2 + 72 10079 c.10079T>C c.(10078-10080)GTG>GCG p.V3360A NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 3360 TIL 5. cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GCCATCTGCGTGCAGCCGGGT 0.682 7 32 --- --- --- --- PASS GIMAP5 55340 broad.mit.edu 37 7 150439684 150439684 + Missense_Mutation SNP A G G TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr7:150439684A>G uc003whr.1 + 3 809 c.457A>G c.(457-459)AAA>GAA p.K153E GIMAP5_uc010lpu.2_Missense_Mutation_p.K11E NM_018384 NP_060854 Q96F15 GIMA5_HUMAN GTPase, IMAP family member 5 153 Cytoplasmic (Potential).|GTP (Potential). integral to membrane|mitochondrial outer membrane GTP binding ovary(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CTTCACCCACAAAGAGGACTT 0.562 63 188 --- --- --- --- PASS RP1L1 94137 broad.mit.edu 37 8 10465650 10465650 + Silent SNP G A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr8:10465650G>A uc003wtc.2 - 4 6187 c.5958C>T c.(5956-5958)ACC>ACT p.T1986T NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 1986 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) CTGCCTCCTGGGTCTCCACTT 0.587 117 353 --- --- --- --- PASS ATP6V1B2 526 broad.mit.edu 37 8 20055041 20055041 + Nonsense_Mutation SNP C T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr8:20055041C>T uc003wzp.2 + 1 338 c.124C>T c.(124-126)CAG>TAG p.Q42* NM_001693 NP_001684 P21281 VATB2_HUMAN vacuolar H+ATPase B2 42 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|endomembrane system|Golgi apparatus|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism 0 Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211) CTACCTCTCCCAGCCTCGCCT 0.647 4 16 --- --- --- --- PASS TNFRSF10D 8793 broad.mit.edu 37 8 23003215 23003215 + Silent SNP C T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr8:23003215C>T uc003xcz.1 - 5 794 c.702G>A c.(700-702)AAG>AAA p.K234K NM_003840 NP_003831 Q9UBN6 TR10D_HUMAN tumor necrosis factor receptor superfamily, 234 Cytoplasmic (Potential). anti-apoptosis|apoptosis integral to membrane TRAIL binding|transmembrane receptor activity 0 Prostate(55;0.0421)|Breast(100;0.067) Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612) AAATGAATTTCTTCCGACATG 0.517 12 89 --- --- --- --- PASS FZD3 7976 broad.mit.edu 37 8 28385506 28385506 + Missense_Mutation SNP A G G TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr8:28385506A>G uc003xgx.2 + 5 1707 c.1229A>G c.(1228-1230)AAC>AGC p.N410S FZD3_uc010lvb.2_Missense_Mutation_p.N410S NM_017412 NP_059108 Q9NPG1 FZD3_HUMAN frizzled 3 precursor 410 Cytoplasmic (Potential). canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding ovary(1)|central_nervous_system(1) 2 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23) GAAAAGGAGAACCAAGATAAA 0.408 40 256 --- --- --- --- PASS FGFR1 2260 broad.mit.edu 37 8 38271765 38271765 + Silent SNP G A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr8:38271765G>A uc003xlp.2 - 17 3033 c.2091C>T c.(2089-2091)GGC>GGT p.G697G FGFR1_uc010lwf.2_RNA|FGFR1_uc011lbo.1_Silent_p.G695G|FGFR1_uc011lbp.1_Silent_p.G608G|FGFR1_uc011lbq.1_Silent_p.G606G|FGFR1_uc010lwk.2_Silent_p.G687G NM_023110 NP_075598 P11362 FGFR1_HUMAN fibroblast growth factor receptor 1 isoform 1 697 Cytoplasmic (Potential).|Protein kinase. axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development extracellular region|integral to plasma membrane|membrane fraction ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity lung(5)|central_nervous_system(5)|stomach(2)|breast(2)|ovary(1) 15 all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442) Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065) Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24) Palifermin(DB00039) ATGGGGAGCCGCCCAGAGTGA 0.607 1 T BCR|FOP|ZNF198|CEP1 MPD|NHL Pfeiffer syndrome|Kallman syndrome 6 94 --- --- --- --- PASS ADAM9 8754 broad.mit.edu 37 8 38871541 38871541 + Missense_Mutation SNP C G G TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr8:38871541C>G uc003xmr.2 + 4 390 c.312C>G c.(310-312)ATC>ATG p.I104M ADAM9_uc011lcf.1_RNA|ADAM9_uc011lcg.1_RNA|ADAM9_uc010lwr.2_RNA|ADAM9_uc003xmo.1_Missense_Mutation_p.I104M|ADAM9_uc003xmp.2_Missense_Mutation_p.I104M NM_003816 NP_003807 Q13443 ADAM9_HUMAN ADAM metallopeptidase domain 9 isoform 1 104 Extracellular (Potential). Missing (in Ref. 2; no nucleotide entry). activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway extracellular space|extracellular space|integral to membrane|intrinsic to external side of plasma membrane collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153) LUSC - Lung squamous cell carcinoma(45;2.74e-07) GGACTTTAATCACTGACCATC 0.308 6 230 --- --- --- --- PASS ST18 9705 broad.mit.edu 37 8 53030906 53030906 + Missense_Mutation SNP G T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr8:53030906G>T uc003xqz.2 - 19 3007 c.2851C>A c.(2851-2853)CAG>AAG p.Q951K ST18_uc011ldq.1_Missense_Mutation_p.Q598K|ST18_uc011ldr.1_Missense_Mutation_p.Q916K|ST18_uc011lds.1_Missense_Mutation_p.Q856K|ST18_uc003xra.2_Missense_Mutation_p.Q951K NM_014682 NP_055497 O60284 ST18_HUMAN suppression of tumorigenicity 18 951 Potential. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(1) 5 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) ACCTGGGTCTGAAGTTTCATC 0.294 36 128 --- --- --- --- PASS NPBWR1 2831 broad.mit.edu 37 8 53852526 53852526 + Missense_Mutation SNP C A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr8:53852526C>A uc011ldu.1 + 1 59 c.59C>A c.(58-60)GCG>GAG p.A20E NM_005285 NP_005276 P48145 NPBW1_HUMAN G protein-coupled receptor 7 20 Extracellular (Potential). synaptic transmission plasma membrane opioid receptor activity|protein binding ovary(2)|breast(1) 3 Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431) CCGGACCCGGCGCTGAGCTGC 0.716 14 28 --- --- --- --- PASS RP1 6101 broad.mit.edu 37 8 55534012 55534012 + Silent SNP C A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr8:55534012C>A uc003xsd.1 + 2 634 c.486C>A c.(484-486)GGC>GGA p.G162G RP1_uc011ldy.1_Silent_p.G162G NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 162 Doublecortin 2. axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TCAGGAATGGCGACCCGAAGA 0.667 37 147 --- --- --- --- PASS RP1 6101 broad.mit.edu 37 8 55534051 55534051 + Missense_Mutation SNP G T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr8:55534051G>T uc003xsd.1 + 2 673 c.525G>T c.(523-525)AGG>AGT p.R175S RP1_uc011ldy.1_Missense_Mutation_p.R175S NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 175 Doublecortin 2. axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TGAGCAGGAGGGTCACCCAGA 0.632 51 222 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77618581 77618581 + Missense_Mutation SNP G T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr8:77618581G>T uc003yav.2 + 2 2645 c.2258G>T c.(2257-2259)TGC>TTC p.C753F ZFHX4_uc003yat.1_Missense_Mutation_p.C753F|ZFHX4_uc003yau.1_Missense_Mutation_p.C753F|ZFHX4_uc003yaw.1_Missense_Mutation_p.C753F NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 753 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) CTCAGTGGCTGCGGAACACCC 0.527 HNSCC(33;0.089) 15 54 --- --- --- --- PASS DCAF4L2 138009 broad.mit.edu 37 8 88885614 88885614 + Missense_Mutation SNP C A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr8:88885614C>A uc003ydz.2 - 1 683 c.586G>T c.(586-588)GCG>TCG p.A196S NM_152418 NP_689631 Q8NA75 DC4L2_HUMAN WD repeat domain 21C 196 ovary(1) 1 GAGTGATACGCGTGGATGCTC 0.557 55 212 --- --- --- --- PASS RUNX1T1 862 broad.mit.edu 37 8 92998408 92998408 + Missense_Mutation SNP C A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr8:92998408C>A uc003yfd.2 - 8 1307 c.1223G>T c.(1222-1224)AGT>ATT p.S408I RUNX1T1_uc003yfc.1_Missense_Mutation_p.S381I|RUNX1T1_uc003yfe.1_Missense_Mutation_p.S371I|RUNX1T1_uc010mao.2_Missense_Mutation_p.S381I|RUNX1T1_uc011lgi.1_Missense_Mutation_p.S419I|RUNX1T1_uc010man.1_5'UTR|RUNX1T1_uc003yfb.1_Missense_Mutation_p.S371I NM_175634 NP_783552 Q06455 MTG8_HUMAN acute myelogenous leukemia 1 translocation 1 408 Poly-Ser. generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1) 16 BRCA - Breast invasive adenocarcinoma(11;0.0141) GCTGCTGCTACTGCCGCCACC 0.498 49 127 --- --- --- --- PASS PTDSS1 9791 broad.mit.edu 37 8 97316381 97316381 + Missense_Mutation SNP G C C TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr8:97316381G>C uc003yht.1 + 7 968 c.866G>C c.(865-867)GGA>GCA p.G289A PTDSS1_uc003yhu.1_Missense_Mutation_p.G143A NM_014754 NP_055569 P48651 PTSS1_HUMAN phosphatidylserine synthase 1 289 Helical; (Potential). phosphatidylserine biosynthetic process integral to membrane transferase activity ovary(1) 1 Breast(36;6.18e-05) Phosphatidylserine(DB00144) AGAGTAGCTGGAGTGTACCTT 0.413 34 456 --- --- --- --- PASS PTDSS1 9791 broad.mit.edu 37 8 97321823 97321823 + Missense_Mutation SNP G A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr8:97321823G>A uc003yht.1 + 9 1148 c.1046G>A c.(1045-1047)CGC>CAC p.R349H PTDSS1_uc003yhu.1_Missense_Mutation_p.R203H NM_014754 NP_055569 P48651 PTSS1_HUMAN phosphatidylserine synthase 1 349 phosphatidylserine biosynthetic process integral to membrane transferase activity ovary(1) 1 Breast(36;6.18e-05) Phosphatidylserine(DB00144) CAGTGCAAGCGCGTAGGAACA 0.428 7 122 --- --- --- --- PASS OSR2 116039 broad.mit.edu 37 8 99961829 99961829 + Missense_Mutation SNP G C C TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr8:99961829G>C uc003yir.2 + 2 1184 c.649G>C c.(649-651)GAT>CAT p.D217H OSR2_uc010mbn.2_Missense_Mutation_p.D217H|OSR2_uc003yiq.2_Missense_Mutation_p.D217H|OSR2_uc011lgx.1_Missense_Mutation_p.D338H NM_001142462 NP_001135934 Q8N2R0 OSR2_HUMAN odd-skipped related 2 isoform a 217 C2H2-type 2. bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|zinc ion binding central_nervous_system(1) 1 Breast(36;4.14e-07) OV - Ovarian serous cystadenocarcinoma(57;0.0136) TCACCTGCGGGATCACAGGTG 0.547 42 100 --- --- --- --- PASS VPS13B 157680 broad.mit.edu 37 8 100880532 100880532 + Missense_Mutation SNP T C C TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr8:100880532T>C uc003yiv.2 + 59 11417 c.11306T>C c.(11305-11307)ATA>ACA p.I3769T VPS13B_uc003yiw.2_Missense_Mutation_p.I3744T NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 3769 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) ATTGCTGGTATAGTTGATCAG 0.478 23 65 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113301694 113301694 + Silent SNP A C C TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr8:113301694A>C uc003ynu.2 - 57 9207 c.9048T>G c.(9046-9048)ACT>ACG p.T3016T CSMD3_uc003yns.2_Silent_p.T2218T|CSMD3_uc003ynt.2_Silent_p.T2976T|CSMD3_uc011lhx.1_Silent_p.T2847T NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3016 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 AATAGTGAACAGTAGACCCAA 0.433 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 40 136 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113323377 113323377 + Missense_Mutation SNP G C C TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr8:113323377G>C uc003ynu.2 - 50 7874 c.7715C>G c.(7714-7716)CCA>CGA p.P2572R CSMD3_uc003yns.2_Missense_Mutation_p.P1774R|CSMD3_uc003ynt.2_Missense_Mutation_p.P2532R|CSMD3_uc011lhx.1_Missense_Mutation_p.P2468R|CSMD3_uc003ynw.1_Missense_Mutation_p.P283R NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2572 Extracellular (Potential).|Sushi 14. 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 TGGGGATTCTGGTGTACTACA 0.398 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 19 152 --- --- --- --- PASS SHARPIN 81858 broad.mit.edu 37 8 145154057 145154057 + Missense_Mutation SNP C T T rs61732529 TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr8:145154057C>T uc003zba.2 - 7 1458 c.974G>A c.(973-975)CGC>CAC p.R325H SHARPIN_uc003zbb.2_Intron NM_030974 NP_112236 Q9H0F6 SHRPN_HUMAN shank-interacting protein-like 1 325 negative regulation of inflammatory response|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein linear polyubiquitination|regulation of CD40 signaling pathway|regulation of tumor necrosis factor-mediated signaling pathway cytosol|LUBAC complex polyubiquitin binding|zinc ion binding ovary(1) 1 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GGGAAACAAGCGTCCAAGTTC 0.682 9 50 --- --- --- --- PASS C9orf93 203238 broad.mit.edu 37 9 15920371 15920371 + Missense_Mutation SNP A G G TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr9:15920371A>G uc003zmd.2 + 25 4019 c.3704A>G c.(3703-3705)AAA>AGA p.K1235R C9orf93_uc003zme.2_Missense_Mutation_p.K1150R|C9orf93_uc011lmu.1_Missense_Mutation_p.K1243R NM_173550 NP_775821 Q6TFL3 CI093_HUMAN hypothetical protein LOC203238 1235 Potential. 0 GBM - Glioblastoma multiforme(50;4.84e-07) GCAGCCTTGAAATCAGAACTT 0.348 57 101 --- --- --- --- PASS KIAA1797 54914 broad.mit.edu 37 9 20717842 20717842 + Missense_Mutation SNP A T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr9:20717842A>T uc003zog.1 + 5 470 c.107A>T c.(106-108)GAA>GTA p.E36V NM_017794 NP_060264 Q5VW36 K1797_HUMAN hypothetical protein LOC54914 36 integral to membrane binding ovary(8)|breast(1)|kidney(1) 10 GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11) ggtttttcAGAAAAGATTCAC 0.279 45 74 --- --- --- --- PASS FLJ46321 389763 broad.mit.edu 37 9 84608130 84608130 + Silent SNP G T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr9:84608130G>T uc004amn.2 + 4 2792 c.2745G>T c.(2743-2745)CTG>CTT p.L915L NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN hypothetical protein LOC389763 915 integral to membrane 0 TGAGGATGCTGTGGGGCCTTC 0.458 7 110 --- --- --- --- PASS CENPP 401541 broad.mit.edu 37 9 95094618 95094618 + Missense_Mutation SNP G A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr9:95094618G>A uc004arz.2 + 2 814 c.274G>A c.(274-276)GAG>AAG p.E92K CENPP_uc010mqx.2_Intron|CENPP_uc004ary.1_Missense_Mutation_p.E92K NM_001012267 NP_001012267 Q6IPU0 CENPP_HUMAN centromere protein P 92 CenH3-containing nucleosome assembly at centromere|mitotic prometaphase chromosome, centromeric region|cytosol|nucleoplasm ovary(2) 2 AACAAGCACTGAGATGACAGA 0.323 36 52 --- --- --- --- PASS ZNF782 158431 broad.mit.edu 37 9 99581238 99581238 + Missense_Mutation SNP T A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr9:99581238T>A uc004awp.1 - 6 1348 c.1067A>T c.(1066-1068)CAT>CTT p.H356L ZNF782_uc011lup.1_Missense_Mutation_p.H224L NM_001001662 NP_001001662 Q6ZMW2 ZN782_HUMAN zinc finger protein 782 356 C2H2-type 3; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Acute lymphoblastic leukemia(62;0.0527) AACCTTCTGATGTACACTGAA 0.413 5 482 --- --- --- --- PASS NIPSNAP3A 25934 broad.mit.edu 37 9 107513369 107513369 + Missense_Mutation SNP G C C TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr9:107513369G>C uc004bch.1 + 2 298 c.193G>C c.(193-195)GCT>CCT p.A65P NIPSNAP3A_uc011lvt.1_Missense_Mutation_p.A65P|NIPSNAP3A_uc011lvu.1_Missense_Mutation_p.A65P NM_015469 NP_056284 Q9UFN0 NPS3A_HUMAN nipsnap homolog 3A 65 cytosol 0 TCTTCGGACAGCTCACTCTGA 0.368 29 345 --- --- --- --- PASS PTPN3 5774 broad.mit.edu 37 9 112172595 112172595 + Missense_Mutation SNP C T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr9:112172595C>T uc004bed.2 - 15 1526 c.1414G>A c.(1414-1416)GGC>AGC p.G472S PTPN3_uc004beb.2_Missense_Mutation_p.G341S|PTPN3_uc004bec.2_Missense_Mutation_p.G296S|PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Missense_Mutation_p.G427S|PTPN3_uc011lwh.1_Missense_Mutation_p.G318S|PTPN3_uc011lwd.1_5'UTR|PTPN3_uc011lwe.1_Missense_Mutation_p.G185S|PTPN3_uc011lwf.1_Missense_Mutation_p.G140S NM_002829 NP_002820 P26045 PTN3_HUMAN protein tyrosine phosphatase, non-receptor type 472 negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle cytoplasm|cytoskeleton|internal side of plasma membrane ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity ovary(3) 3 TGATCAACGCCGTCAGGTGAG 0.552 26 241 --- --- --- --- PASS SVEP1 79987 broad.mit.edu 37 9 113220768 113220768 + Missense_Mutation SNP G T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr9:113220768G>T uc010mtz.2 - 20 3896 c.3559C>A c.(3559-3561)CAT>AAT p.H1187N SVEP1_uc010mua.1_Missense_Mutation_p.H1187N NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN polydom 1187 cell adhesion cytoplasm|extracellular region|membrane calcium ion binding ovary(7) 7 CTGATTTCATGCCTCTTTTTA 0.398 12 25 --- --- --- --- PASS ASTN2 23245 broad.mit.edu 37 9 119204776 119204776 + Missense_Mutation SNP G A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr9:119204776G>A uc004bjs.1 - 21 3655 c.3554C>T c.(3553-3555)ACC>ATC p.T1185I ASTN2_uc004bjr.1_Missense_Mutation_p.T1181I|ASTN2_uc004bjt.1_Missense_Mutation_p.T1134I|ASTN2_uc004bjp.1_Missense_Mutation_p.T278I|ASTN2_uc004bjq.1_Missense_Mutation_p.T237I|ASTN2_uc011lxr.1_Missense_Mutation_p.T237I|ASTN2_uc011lxs.1_Missense_Mutation_p.T237I|ASTN2_uc011lxt.1_Missense_Mutation_p.T237I|ASTN2_uc004bjo.1_5'UTR NM_198187 NP_937830 O75129 ASTN2_HUMAN astrotactin 2 isoform c 1185 Extracellular (Potential).|Fibronectin type-III. integral to membrane skin(4)|ovary(3)|breast(1)|kidney(1) 9 CGTCCTCAGGGTCACCGTGCT 0.507 16 232 --- --- --- --- PASS TLR4 7099 broad.mit.edu 37 9 120475354 120475354 + Silent SNP G T T rs150022134 TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr9:120475354G>T uc004bjz.2 + 3 1239 c.948G>T c.(946-948)GTG>GTT p.V316V TLR4_uc004bka.2_Silent_p.V276V|TLR4_uc004bkb.2_Silent_p.V116V NM_138554 NP_612564 O00206 TLR4_HUMAN toll-like receptor 4 precursor 316 Extracellular (Potential). activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity lung(10)|ovary(4)|breast(1)|skin(1) 16 TTTCCCTGGTGAGTGTGACTA 0.323 10 251 --- --- --- --- PASS WDR34 89891 broad.mit.edu 37 9 131396538 131396538 + Missense_Mutation SNP G A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr9:131396538G>A uc004bvq.1 - 8 1463 c.1339C>T c.(1339-1341)CGG>TGG p.R447W WDR34_uc004bvs.1_Missense_Mutation_p.R438W|WDR34_uc004bvr.1_Missense_Mutation_p.R419W NM_052844 NP_443076 Q96EX3 WDR34_HUMAN WD repeat domain 34 447 WD 4. cytoplasm central_nervous_system(2)|skin(1) 3 ACCAAGGGCCGCACTGGGGAC 0.607 11 143 --- --- --- --- PASS COL5A1 1289 broad.mit.edu 37 9 137655544 137655544 + Silent SNP C T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr9:137655544C>T uc004cfe.2 + 20 2377 c.1995C>T c.(1993-1995)GAC>GAT p.D665D NM_000093 NP_000084 P20908 CO5A1_HUMAN alpha 1 type V collagen preproprotein 665 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1) 11 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) TGCAGGGTGACGACGGAGAAG 0.592 13 183 --- --- --- --- PASS FBXO18 84893 broad.mit.edu 37 10 5979143 5979143 + Missense_Mutation SNP C A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr10:5979143C>A uc001iis.2 + 21 3127 c.3032C>A c.(3031-3033)GCG>GAG p.A1011E FBXO18_uc001iir.2_Missense_Mutation_p.A954E|FBXO18_uc009xig.2_Missense_Mutation_p.A937E|FBXO18_uc001iit.2_Missense_Mutation_p.A1062E NM_178150 NP_835363 Q8NFZ0 FBX18_HUMAN F-box only protein, helicase, 18 isoform 2 1011 DNA repair nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(2)|skin(1) 3 GGGCCCCTGGCGTTCCTGACA 0.622 5 38 --- --- --- --- PASS ITGA8 8516 broad.mit.edu 37 10 15688894 15688894 + Missense_Mutation SNP G T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr10:15688894G>T uc001ioc.1 - 12 1158 c.1158C>A c.(1156-1158)TTC>TTA p.F386L ITGA8_uc010qcb.1_Missense_Mutation_p.F371L NM_003638 NP_003629 P53708 ITA8_HUMAN integrin, alpha 8 precursor 386 Extracellular (Potential).|FG-GAP 6. cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity ovary(3)|lung(3) 6 TAGCACTACCGAATCTCCCAA 0.478 21 73 --- --- --- --- PASS MRC1 4360 broad.mit.edu 37 10 17905647 17905647 + Missense_Mutation SNP A G G TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr10:17905647A>G uc001ipk.2 + 11 1841 c.1738A>G c.(1738-1740)ATC>GTC p.I580V NM_002438 NP_002429 P22897 MRC1_HUMAN mannose receptor C type 1 precursor 580 C-type lectin 3.|Extracellular (Potential). receptor-mediated endocytosis endosome membrane|integral to plasma membrane mannose binding|receptor activity 0 TCAGTGGACCATCGAGGAAGA 0.453 25 165 --- --- --- --- PASS NEBL 10529 broad.mit.edu 37 10 21134270 21134270 + Missense_Mutation SNP C G G TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr10:21134270C>G uc001iqi.2 - 12 1541 c.1144G>C c.(1144-1146)GAG>CAG p.E382Q NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron NM_006393 NP_006384 O76041 NEBL_HUMAN nebulette sarcomeric isoform 382 Nebulin 10. regulation of actin filament length actin binding|structural constituent of muscle ovary(2) 2 CCTTTAATCTCCTTCTCAAAA 0.343 19 104 --- --- --- --- PASS GPR158 57512 broad.mit.edu 37 10 25701259 25701259 + Missense_Mutation SNP G A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr10:25701259G>A uc001isj.2 + 4 1252 c.1192G>A c.(1192-1194)GGC>AGC p.G398S NM_020752 NP_065803 Q5T848 GP158_HUMAN G protein-coupled receptor 158 precursor 398 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(4)|large_intestine(2)|pancreas(1)|skin(1) 8 TTGCAGGGAGGGCTGCCCCTT 0.488 48 298 --- --- --- --- PASS ZEB1 6935 broad.mit.edu 37 10 31809823 31809823 + Missense_Mutation SNP A C C TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr10:31809823A>C uc001ivs.3 + 7 1623 c.1560A>C c.(1558-1560)AAA>AAC p.K520N ZEB1_uc001ivr.3_Missense_Mutation_p.K302N|ZEB1_uc010qee.1_Missense_Mutation_p.K302N|ZEB1_uc010qef.1_Missense_Mutation_p.K302N|ZEB1_uc009xlj.1_Missense_Mutation_p.K446N|ZEB1_uc010qeg.1_Missense_Mutation_p.K379N|ZEB1_uc009xlk.1_Missense_Mutation_p.K302N|ZEB1_uc001ivt.3_Missense_Mutation_p.K302N|ZEB1_uc001ivu.3_Missense_Mutation_p.K521N|ZEB1_uc001ivv.3_Missense_Mutation_p.K500N|ZEB1_uc010qeh.1_Missense_Mutation_p.K453N|ZEB1_uc009xlo.1_Missense_Mutation_p.K503N|ZEB1_uc009xlp.2_Missense_Mutation_p.K504N NM_030751 NP_110378 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 isoform b 520 cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(3)|central_nervous_system(2) 5 Prostate(175;0.0156) AGAAGGACAAAAGCTTTGAAG 0.368 23 168 --- --- --- --- PASS MARCH8 220972 broad.mit.edu 37 10 45953836 45953836 + Nonsense_Mutation SNP C A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr10:45953836C>A uc001jci.1 - 7 966 c.727G>T c.(727-729)GAA>TAA p.E243* MARCH8_uc001jch.2_Nonsense_Mutation_p.E525*|MARCH8_uc001jcj.1_Nonsense_Mutation_p.E243*|MARCH8_uc001jck.1_Nonsense_Mutation_p.E243*|uc001jcf.2_5'Flank|MARCH8_uc001jcg.1_Nonsense_Mutation_p.E112* NM_001002266 NP_001002266 Q5T0T0 MARH8_HUMAN cellular modulator of immune recognition isoform 243 cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosomal membrane ubiquitin-protein ligase activity|zinc ion binding 0 TTGCTTGTTTCTGGACAGTTT 0.358 31 249 --- --- --- --- PASS SLC18A3 6572 broad.mit.edu 37 10 50819838 50819838 + Missense_Mutation SNP G T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr10:50819838G>T uc001jhw.2 + 1 1492 c.1052G>T c.(1051-1053)CGC>CTC p.R351L CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank NM_003055 NP_003046 Q16572 VACHT_HUMAN vesicular acetylcholine transporter 351 Cytoplasmic (Potential). neurotransmitter secretion clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction acetylcholine transmembrane transporter activity ovary(2) 2 CTGGCGGCGCGCTACCCACAC 0.697 9 108 --- --- --- --- PASS ASAH2 56624 broad.mit.edu 37 10 52005028 52005028 + Missense_Mutation SNP C A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr10:52005028C>A uc001jjd.2 - 2 314 c.314G>T c.(313-315)GGT>GTT p.G105V ASAH2_uc009xos.2_Missense_Mutation_p.G105V NM_019893 NP_063946 Q9NR71 ASAH2_HUMAN N-acylsphingosine amidohydrolase 2 isoform a 105 Lumenal (Potential). apoptosis|ceramide metabolic process|signal transduction integral to membrane|mitochondrion|plasma membrane ceramidase activity 0 TCGTCCAACACCAATATGGTA 0.453 21 256 --- --- --- --- PASS ANK3 288 broad.mit.edu 37 10 61830845 61830845 + Missense_Mutation SNP A G G TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr10:61830845A>G uc001jky.2 - 37 9986 c.9794T>C c.(9793-9795)ATT>ACT p.I3265T ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron NM_020987 NP_066267 Q12955 ANK3_HUMAN ankyrin 3 isoform 1 3265 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2) 19 ATCTGACTCAATCTGGTCCGC 0.438 86 333 --- --- --- --- PASS EGR2 1959 broad.mit.edu 37 10 64573941 64573941 + Missense_Mutation SNP T C C TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr10:64573941T>C uc010qim.1 - 3 611 c.457A>G c.(457-459)ACC>GCC p.T153A EGR2_uc010qin.1_Missense_Mutation_p.T103A|EGR2_uc001jmi.2_Missense_Mutation_p.T153A|EGR2_uc010qio.1_Missense_Mutation_p.T166A|EGR2_uc009xph.2_Missense_Mutation_p.T153A NM_001136177 NP_001129649 P11161 EGR2_HUMAN early growth response 2 protein isoform a 153 fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter cytoplasm|nucleus chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding ovary(2) 2 Prostate(12;0.0297)|all_hematologic(501;0.228) TGGGACATGGTGCACACACCC 0.622 33 111 --- --- --- --- PASS JMJD1C 221037 broad.mit.edu 37 10 64974581 64974581 + Missense_Mutation SNP C T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr10:64974581C>T uc001jmn.2 - 8 1646 c.1346G>A c.(1345-1347)CGG>CAG p.R449Q JMJD1C_uc001jml.2_Missense_Mutation_p.R230Q|JMJD1C_uc001jmm.2_Missense_Mutation_p.R161Q|JMJD1C_uc010qiq.1_Missense_Mutation_p.R267Q|JMJD1C_uc009xpi.2_Missense_Mutation_p.R267Q|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc001jmp.1_Missense_Mutation_p.R161Q NM_032776 NP_116165 Q15652 JHD2C_HUMAN jumonji domain containing 1C isoform a 449 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding ovary(4)|breast(1)|central_nervous_system(1) 6 Prostate(12;0.0119)|all_hematologic(501;0.191) AACAGACTTCCGCTTCTCTGC 0.398 5 292 --- --- --- --- PASS CTNNA3 29119 broad.mit.edu 37 10 67863009 67863009 + Splice_Site SNP T G G TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr10:67863009T>G uc009xpn.1 - 14 2008 c.1885_splice c.e14-1 p.T629_splice CTNNA3_uc001jmw.2_Splice_Site_p.T629_splice NM_001127384 NP_001120856 Q9UI47 CTNA3_HUMAN catenin, alpha 3 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1) 8 CTCTGGGGTCTATAAAAAGAA 0.274 23 72 --- --- --- --- PASS LRRTM3 347731 broad.mit.edu 37 10 68687148 68687148 + Missense_Mutation SNP G T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr10:68687148G>T uc001jmz.1 + 2 1024 c.474G>T c.(472-474)AAG>AAT p.K158N CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.2_Missense_Mutation_p.K158N NM_178011 NP_821079 Q86VH5 LRRT3_HUMAN leucine rich repeat transmembrane neuronal 3 158 Extracellular (Potential).|LRR 5. integral to membrane upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 GCTTGCGGAAGCTGCTGAGTT 0.463 71 199 --- --- --- --- PASS HK1 3098 broad.mit.edu 37 10 71158372 71158372 + Silent SNP G A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr10:71158372G>A uc001jpl.3 + 17 2498 c.2397G>A c.(2395-2397)CAG>CAA p.Q799Q HK1_uc001jpg.3_Silent_p.Q787Q|HK1_uc001jph.3_Silent_p.Q803Q|HK1_uc001jpi.3_Silent_p.Q803Q|HK1_uc001jpj.3_Silent_p.Q834Q|HK1_uc001jpk.3_Silent_p.Q798Q NM_000188 NP_000179 P19367 HXK1_HUMAN hexokinase 1 isoform HKI 799 Catalytic. glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane|nucleus ATP binding|glucokinase activity ovary(1) 1 CACTGCTCCAGGTCCGGGCTA 0.612 11 34 --- --- --- --- PASS NDUFB8 4714 broad.mit.edu 37 10 102289241 102289241 + Missense_Mutation SNP C A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr10:102289241C>A uc001kri.1 - 2 136 c.108G>T c.(106-108)ATG>ATT p.M36I SEC31B_uc009xwo.1_5'UTR|SEC31B_uc010qpq.1_5'UTR|SEC31B_uc010qpr.1_RNA NM_005004 NP_004995 O95169 NDUB8_HUMAN NADH dehydrogenase (ubiquinone) 1 beta 36 mitochondrial electron transport, NADH to ubiquinone|transport endoplasmic reticulum|integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity 0 Colorectal(252;0.234) Epithelial(162;5.68e-10)|all cancers(201;4.05e-08) NADH(DB00157) GCCCCGGGAACATGTCCTTGG 0.592 13 81 --- --- --- --- PASS NFKB2 4791 broad.mit.edu 37 10 104161252 104161252 + Missense_Mutation SNP C T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr10:104161252C>T uc001kvb.2 + 20 2535 c.2270C>T c.(2269-2271)CCC>CTC p.P757L NFKB2_uc001kva.2_Missense_Mutation_p.P757L|NFKB2_uc001kvd.2_Missense_Mutation_p.P757L|NFKB2_uc009xxc.2_Missense_Mutation_p.P757L NM_001077494 NP_001070962 Q00653 NFKB2_HUMAN nuclear factor of kappa light polypeptide gene 757 ANK 7. Missing (in truncated form p80HT).|Missing (in truncated form LB40).|Missing (in truncated form EB308). innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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 Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity lung(3) 3 Colorectal(252;0.00957) Epithelial(162;3.4e-08)|all cancers(201;6.41e-07) ATGGAGCCACCCCTGACCCCG 0.592 T IGH@ B-NHL 9 71 --- --- --- --- PASS SLC18A2 6571 broad.mit.edu 37 10 119013575 119013575 + Missense_Mutation SNP C A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr10:119013575C>A uc001ldd.1 + 5 571 c.540C>A c.(538-540)AGC>AGA p.S180R SLC18A2_uc009xyy.1_5'UTR NM_003054 NP_003045 Q05940 VMAT2_HUMAN solute carrier family 18 (vesicular monoamine), 180 Helical; (Potential). neurotransmitter secretion clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction monoamine transmembrane transporter activity 0 Colorectal(252;0.19) all cancers(201;0.029) Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844) CCTTCTCCAGCAGCTATGCCT 0.597 30 268 --- --- --- --- PASS ADAM12 8038 broad.mit.edu 37 10 127708298 127708298 + Nonsense_Mutation SNP G A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr10:127708298G>A uc001ljk.2 - 22 3048 c.2635C>T c.(2635-2637)CAA>TAA p.Q879* ADAM12_uc010qul.1_Nonsense_Mutation_p.Q830* NM_003474 NP_003465 O43184 ADA12_HUMAN ADAM metallopeptidase domain 12 isoform 1 879 Cytoplasmic (Potential). cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding breast(4)|ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 9 all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216) GTCTCCCATTGTCCTGGGGTC 0.582 17 114 --- --- --- --- PASS RNH1 6050 broad.mit.edu 37 11 499054 499054 + Missense_Mutation SNP T C C TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr11:499054T>C uc001lpk.1 - 4 1983 c.575A>G c.(574-576)CAG>CGG p.Q192R RNH1_uc001lpl.1_Missense_Mutation_p.Q192R|RNH1_uc001lpm.1_Missense_Mutation_p.Q192R|RNH1_uc001lpn.1_Missense_Mutation_p.Q192R|RNH1_uc001lpo.1_Missense_Mutation_p.Q192R|RNH1_uc009ybw.1_RNA|RNH1_uc001lpp.1_Missense_Mutation_p.Q192R|RNH1_uc001lpt.1_5'UTR|RNH1_uc001lpq.1_Missense_Mutation_p.Q192R|RNH1_uc001lpr.1_Missense_Mutation_p.Q192R|RNH1_uc001lps.1_Missense_Mutation_p.Q192R NM_203389 NP_976323 P13489 RINI_HUMAN ribonuclease/angiogenin inhibitor 192 LRR 7. mRNA catabolic process|regulation of angiogenesis angiogenin-PRI complex|cytoplasm protein binding|ribonuclease inhibitor activity 0 all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703) CTTCAGGCCCTGGCACAGCAC 0.672 14 63 --- --- --- --- PASS MUC6 4588 broad.mit.edu 37 11 1018740 1018740 + Missense_Mutation SNP G T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr11:1018740G>T uc001lsw.2 - 31 4112 c.4061C>A c.(4060-4062)ACA>AAA p.T1354K NM_005961 NP_005952 Q6W4X9 MUC6_HUMAN mucin 6, gastric 1354 Pro-rich.|Thr-rich. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent ovary(1) 1 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GGTGGCCGTTGTTCCTGGCAG 0.582 37 166 --- --- --- --- PASS OR52A4 390053 broad.mit.edu 37 11 5142454 5142454 + Silent SNP G A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr11:5142454G>A uc001lzz.1 - 1 355 c.355C>T c.(355-357)CTG>TTG p.L119L OR52A4_uc001maa.2_RNA NM_001005222 NP_001005222 olfactory receptor, family 52, subfamily A, ovary(2) 2 Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675) Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2) ATGGCTAGCAGGACTCCTGAT 0.443 8 53 --- --- --- --- PASS OR51V1 283111 broad.mit.edu 37 11 5221405 5221405 + Missense_Mutation SNP T G G TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr11:5221405T>G uc010qyz.1 - 1 526 c.526A>C c.(526-528)AAT>CAT p.N176H NM_001004760 NP_001004760 Q9H2C8 O51V1_HUMAN olfactory receptor, family 51, subfamily V, 176 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGACAGTAATTAAAAAATTTC 0.398 18 135 --- --- --- --- PASS ZNF143 7702 broad.mit.edu 37 11 9530358 9530358 + Missense_Mutation SNP A C C TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr11:9530358A>C uc001mhr.2 + 12 1458 c.1340A>C c.(1339-1341)GAG>GCG p.E447A ZNF143_uc009yfu.2_Missense_Mutation_p.E446A|ZNF143_uc010rby.1_Missense_Mutation_p.E416A NM_003442 NP_003433 P52747 ZN143_HUMAN zinc finger protein 143 447 regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleoplasm DNA binding|zinc ion binding 0 all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212) GAGCCCATCGAGGAGGAGCAG 0.468 5 24 --- --- --- --- PASS NUCB2 4925 broad.mit.edu 37 11 17332406 17332406 + Missense_Mutation SNP G A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr11:17332406G>A uc001mmw.2 + 7 763 c.518G>A c.(517-519)CGT>CAT p.R173H NUCB2_uc001mms.1_Missense_Mutation_p.R174H|NUCB2_uc001mmt.1_Missense_Mutation_p.R173H|NUCB2_uc001mmv.1_Missense_Mutation_p.R173H|NUCB2_uc009ygz.2_Missense_Mutation_p.R173H NM_005013 NP_005004 P80303 NUCB2_HUMAN nucleobindin 2 precursor 173 By similarity. cytosol|ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|plasma membrane calcium ion binding|DNA binding 0 GACAAGACTCGTCATGAAGAA 0.279 7 296 --- --- --- --- PASS CHST1 8534 broad.mit.edu 37 11 45672017 45672017 + Missense_Mutation SNP G A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr11:45672017G>A uc001mys.1 - 4 1128 c.457C>T c.(457-459)CGC>TGC p.R153C NM_003654 NP_003645 O43916 CHST1_HUMAN carbohydrate (keratan sulfate Gal-6) 153 Lumenal (Potential). galactose metabolic process|inflammatory response|keratan sulfate metabolic process Golgi membrane|integral to membrane keratan sulfotransferase activity skin(4)|pancreas(1) 5 GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781) GCCCCGCGGCGGAAGATCCTG 0.692 10 30 --- --- --- --- PASS OR4C12 283093 broad.mit.edu 37 11 50003175 50003175 + Missense_Mutation SNP C T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr11:50003175C>T uc010ria.1 - 1 863 c.863G>A c.(862-864)AGA>AAA p.R288K NM_001005270 NP_001005270 Q96R67 OR4CC_HUMAN olfactory receptor, family 4, subfamily C, 288 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 CTCAGCATTTCTGAGTGTGTA 0.393 33 148 --- --- --- --- PASS OR10AG1 282770 broad.mit.edu 37 11 55735469 55735469 + Missense_Mutation SNP C A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr11:55735469C>A uc010rit.1 - 1 471 c.471G>T c.(469-471)TTG>TTT p.L157F NM_001005491 NP_001005491 Q8NH19 O10AG_HUMAN olfactory receptor, family 10, subfamily AG, 157 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Esophageal squamous(21;0.0137) CGCAAAAGGGCAAAAGGAAAA 0.398 19 111 --- --- --- --- PASS OR8K3 219473 broad.mit.edu 37 11 56086192 56086192 + Nonsense_Mutation SNP C A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr11:56086192C>A uc010rjf.1 + 1 410 c.410C>A c.(409-411)TCA>TAA p.S137* NM_001005202 NP_001005202 Q8NH51 OR8K3_HUMAN olfactory receptor, family 8, subfamily K, 137 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Esophageal squamous(21;0.00448) GTAATCATGTCACGAAGGGTA 0.413 39 188 --- --- --- --- PASS OR5B3 441608 broad.mit.edu 37 11 58170463 58170463 + Silent SNP A T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr11:58170463A>T uc010rkf.1 - 1 420 c.420T>A c.(418-420)GCT>GCA p.A140A NM_001005469 NP_001005469 Q8NH48 OR5B3_HUMAN olfactory receptor, family 5, subfamily B, 140 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Esophageal squamous(5;0.0027) Breast(21;0.0778) TGGCCAGACGAGCACACACAG 0.493 32 136 --- --- --- --- PASS OR5B2 390190 broad.mit.edu 37 11 58189883 58189883 + Missense_Mutation SNP G C C TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr11:58189883G>C uc010rkg.1 - 1 852 c.852C>G c.(850-852)AAC>AAG p.N284K NM_001005566 NP_001005566 Q96R09 OR5B2_HUMAN olfactory receptor, family 5, subfamily B, 284 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3) 3 Esophageal squamous(5;0.0027) Breast(21;0.0778) AGACCACAGGGTTCAGCATGG 0.433 37 162 --- --- --- --- PASS OR4D10 390197 broad.mit.edu 37 11 59245001 59245001 + Missense_Mutation SNP G T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr11:59245001G>T uc001nnz.1 + 1 99 c.99G>T c.(97-99)TTG>TTT p.L33F NM_001004705 NP_001004705 Q8NGI6 OR4DA_HUMAN olfactory receptor, family 4, subfamily D, 33 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 TCCTACTCTTGGTGTATGTGA 0.423 74 268 --- --- --- --- PASS PLAC1L 219990 broad.mit.edu 37 11 59811058 59811058 + Silent SNP C A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr11:59811058C>A uc001nol.2 + 2 366 c.181C>A c.(181-183)CGG>AGG p.R61R NM_173801 NP_776162 Q86WS3 PLACL_HUMAN placenta-specific 1-like precursor 61 extracellular region ovary(2)|skin(1) 3 CCCTGCAAATCGGATACATAC 0.388 21 77 --- --- --- --- PASS PAAF1 80227 broad.mit.edu 37 11 73620469 73620469 + Missense_Mutation SNP T A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr11:73620469T>A uc001ouk.1 + 7 592 c.558T>A c.(556-558)GAT>GAA p.D186E PAAF1_uc001oul.1_Missense_Mutation_p.D169E|PAAF1_uc009ytx.1_RNA|PAAF1_uc001oum.1_Missense_Mutation_p.D169E NM_025155 NP_079431 Q9BRP4 PAAF1_HUMAN proteasomal ATPase-associated factor 1 186 WD 3. interspecies interaction between organisms proteasome complex protein binding ovary(1)|skin(1) 2 Breast(11;7.42e-05) CCATCGTTGATCGGGGGAGGA 0.512 4 159 --- --- --- --- PASS SLC36A4 120103 broad.mit.edu 37 11 92899094 92899094 + Missense_Mutation SNP C A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr11:92899094C>A uc001pdn.2 - 8 954 c.857G>T c.(856-858)GGC>GTC p.G286V SLC36A4_uc001pdm.2_Missense_Mutation_p.G151V NM_152313 NP_689526 Q6YBV0 S36A4_HUMAN solute carrier family 36 (proton/amino acid 286 Helical; (Potential). L-alanine transport|proline transport|tryptophan transport integral to membrane symporter activity ovary(2)|upper_aerodigestive_tract(1) 3 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) CACTCCTATGCCTTCAAAAGC 0.328 15 39 --- --- --- --- PASS APOA5 116519 broad.mit.edu 37 11 116661393 116661393 + Silent SNP G T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr11:116661393G>T uc001ppr.2 - 3 560 c.552C>A c.(550-552)ACC>ACA p.T184T ZNF259_uc001ppp.2_5'Flank|ZNF259_uc009yzd.2_5'Flank|ZNF259_uc001ppq.2_5'Flank|APOA5_uc009yze.2_Silent_p.T184T|APOA5_uc009yzf.2_Silent_p.T184T|APOA5_uc009yzg.2_Silent_p.T210T NM_052968 NP_443200 Q6Q788 APOA5_HUMAN apolipoprotein AV precursor 184 acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding 0 all_hematologic(175;0.0487) all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149) TGAAGCGGCCGGTGTGGTGCA 0.687 14 24 --- --- --- --- PASS SIK3 23387 broad.mit.edu 37 11 116732021 116732021 + Silent SNP G C C TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr11:116732021G>C uc001ppy.2 - 18 2112 c.2076C>G c.(2074-2076)CCC>CCG p.P692P SIK3_uc001ppz.2_Silent_p.P591P|SIK3_uc001pqa.2_Silent_p.P692P|SIK3_uc001ppw.2_Silent_p.P109P|SIK3_uc001ppx.2_Intron|SIK3_uc001pqb.2_5'UTR NM_025164 NP_079440 Q9Y2K2 SIK3_HUMAN serine/threonine-protein kinase QSK 692 Gln-rich. cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity ovary(4)|breast(3)|stomach(2)|lung(1)|skin(1)|kidney(1) 12 TGCTCATGGGGGGAGGACTAT 0.473 35 99 --- --- --- --- PASS AMICA1 120425 broad.mit.edu 37 11 118065080 118065080 + Missense_Mutation SNP T A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr11:118065080T>A uc001psk.2 - 10 1319 c.1145A>T c.(1144-1146)AAG>ATG p.K382M AMICA1_uc001psg.2_Missense_Mutation_p.K192M|AMICA1_uc001psh.2_Missense_Mutation_p.K343M|AMICA1_uc009yzw.1_RNA|AMICA1_uc001psi.2_Missense_Mutation_p.K372M|AMICA1_uc001psj.2_Missense_Mutation_p.K371M|AMICA1_uc010rxw.1_Missense_Mutation_p.K343M NM_001098526 NP_001091996 Q86YT9 JAML1_HUMAN adhesion molecule, interacts with CXADR antigen 382 Cytoplasmic (Potential). blood coagulation|cell adhesion|leukocyte migration|regulation of immune response cell junction|integral to membrane ovary(1) 1 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) CCCACCTGACTTTTTTTCAAG 0.488 10 87 --- --- --- --- PASS TECTA 7007 broad.mit.edu 37 11 120998575 120998575 + Missense_Mutation SNP G T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr11:120998575G>T uc010rzo.1 + 8 1889 c.1889G>T c.(1888-1890)GGC>GTC p.G630V NM_005422 NP_005413 O75443 TECTA_HUMAN tectorin alpha precursor 630 TIL 1. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix breast(6)|ovary(2)|skin(2) 10 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) TGCACAGAGGGCTGCGAGTGC 0.657 34 63 --- --- --- --- PASS OR8D2 283160 broad.mit.edu 37 11 124189385 124189385 + Missense_Mutation SNP C T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr11:124189385C>T uc010sah.1 - 1 709 c.709G>A c.(709-711)GCC>ACC p.A237T NM_001002918 NP_001002918 Q9GZM6 OR8D2_HUMAN olfactory receptor, family 8, subfamily D, 237 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|pancreas(1) 3 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525) GTGCCAAAGGCTTTGGATTGC 0.433 65 170 --- --- --- --- PASS OR8B8 26493 broad.mit.edu 37 11 124310358 124310358 + Silent SNP A G G TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr11:124310358A>G uc010sal.1 - 1 624 c.624T>C c.(622-624)GGT>GGC p.G208G NM_012378 NP_036510 Q15620 OR8B8_HUMAN olfactory receptor, family 8, subfamily B, 208 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 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;0.0277) CTGTGGGCACACCAATATCAA 0.488 48 93 --- --- --- --- PASS IGSF9B 22997 broad.mit.edu 37 11 133794771 133794771 + Missense_Mutation SNP G A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr11:133794771G>A uc001qgx.3 - 15 2294 c.2063C>T c.(2062-2064)GCC>GTC p.A688V IGSF9B_uc001qgy.1_Missense_Mutation_p.A530V NM_014987 NP_055802 Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 688 Fibronectin type-III 2.|Extracellular (Potential). integral to membrane|plasma membrane 0 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) CTGCATGACGGCCAGAACCCG 0.577 4 199 --- --- --- --- PASS ERC1 23085 broad.mit.edu 37 12 1480998 1480998 + Splice_Site SNP G A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr12:1480998G>A uc001qjb.2 + 16 3022 c.2781_splice c.e16-1 p.K927_splice ERC1_uc001qiz.2_Splice_Site|ERC1_uc001qjc.2_Splice_Site_p.K899_splice|ERC1_uc001qja.2_Splice_Site|ERC1_uc001qjd.2_Splice_Site|ERC1_uc001qjf.2_Splice_Site_p.K927_splice|ERC1_uc010sdv.1_Splice_Site_p.K635_splice|ERC1_uc001qje.2_Splice_Site NM_178040 NP_829884 Q8IUD2 RB6I2_HUMAN RAB6-interacting protein 2 isoform epsilon I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport Golgi membrane|IkappaB kinase complex|presynaptic membrane leucine zipper domain binding ovary(2)|lung(2)|breast(1) 5 all_epithelial(11;0.0698)|Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567) TTCTTTTGCAGGCAAGAAGCT 0.313 6 85 --- --- --- --- PASS CACNA2D4 93589 broad.mit.edu 37 12 2024039 2024039 + Missense_Mutation SNP C G G TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr12:2024039C>G uc001qjp.2 - 2 521 c.290G>C c.(289-291)GGC>GCC p.G97A CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc009zdt.1_Missense_Mutation_p.G97A NM_172364 NP_758952 Q7Z3S7 CA2D4_HUMAN voltage-gated calcium channel alpha(2)delta-4 97 Extracellular (Potential). integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity ovary(1) 1 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) CAAGAGAGAGCCTGAGTATTT 0.478 23 138 --- --- --- --- PASS NRIP2 83714 broad.mit.edu 37 12 2943847 2943847 + Silent SNP C T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr12:2943847C>T uc001qlc.2 - 1 375 c.303G>A c.(301-303)CCG>CCA p.P101P NRIP2_uc010sed.1_Silent_p.P101P|uc009zdz.1_5'Flank NM_031474 NP_113662 Q9BQI9 NRIP2_HUMAN nuclear receptor interacting protein 2 101 proteolysis|transcription, DNA-dependent cytoplasm|nucleus aspartic-type endopeptidase activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(31;0.000818) GGCTGTCCAGCGGGAGCAGGT 0.657 18 220 --- --- --- --- PASS KCNA5 3741 broad.mit.edu 37 12 5153548 5153548 + Missense_Mutation SNP C A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr12:5153548C>A uc001qni.2 + 1 464 c.235C>A c.(235-237)CCT>ACT p.P79T NM_002234 NP_002225 P22460 KCNA5_HUMAN potassium voltage-gated channel, shaker-related 79 2 X 11 AA tandem repeat of D-[SP]-G-V-R- P-L-P-P-L-P.|2. Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity ovary(2)|breast(2) 4 GCGGCCCTTGCCTCCGCTGCC 0.746 5 9 --- --- --- --- PASS TPI1 7167 broad.mit.edu 37 12 6979488 6979488 + Missense_Mutation SNP C T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr12:6979488C>T uc001qrk.2 + 7 729 c.691C>T c.(691-693)CTT>TTT p.L231F TPI1_uc010sfo.1_Missense_Mutation_p.L149F NM_000365 NP_000356 P60174 TPIS_HUMAN triosephosphate isomerase 1 isoform 1 231 fatty acid biosynthetic process|gluconeogenesis|glycolysis|pentose-phosphate shunt cytosol triose-phosphate isomerase activity 0 GGATGGCTTCCTTGTGGGTGG 0.572 OREG0021638 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 34 53 --- --- --- --- PASS FAM90A1 55138 broad.mit.edu 37 12 8376048 8376048 + Silent SNP C G G TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr12:8376048C>G uc001qui.2 - 6 988 c.429G>C c.(427-429)CTG>CTC p.L143L FAM90A1_uc001quh.2_Silent_p.L143L NM_018088 NP_060558 Q86YD7 F90A1_HUMAN hypothetical protein LOC55138 143 nucleic acid binding|zinc ion binding ovary(1) 1 Kidney(36;0.0866) CCCTCACCCTCAGATAATCAG 0.542 6 126 --- --- --- --- PASS PIK3C2G 5288 broad.mit.edu 37 12 18435602 18435602 + Missense_Mutation SNP G A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr12:18435602G>A uc001rdt.2 + 2 703 c.587G>A c.(586-588)GGA>GAA p.G196E PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_Missense_Mutation_p.G196E|PIK3C2G_uc010sic.1_5'UTR NM_004570 NP_004561 O75747 P3C2G_HUMAN phosphoinositide-3-kinase, class 2 gamma 196 cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity lung(8)|central_nervous_system(6)|breast(3)|stomach(2)|ovary(2) 21 Hepatocellular(102;0.194) AAAAGGAGTGGACATGTGAAC 0.383 205 268 --- --- --- --- PASS PLCZ1 89869 broad.mit.edu 37 12 18854689 18854689 + Missense_Mutation SNP C T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr12:18854689C>T uc010sid.1 - 8 1077 c.886G>A c.(886-888)GTT>ATT p.V296I PLCZ1_uc001rdv.3_Missense_Mutation_p.V192I|PLCZ1_uc001rdw.3_Missense_Mutation_p.V37I|PLCZ1_uc001rdu.1_Missense_Mutation_p.V37I|PLCZ1_uc009zil.1_RNA NM_033123 NP_149114 Q86YW0 PLCZ1_HUMAN phospholipase C, zeta 1 296 PI-PLC X-box. intracellular signal transduction|lipid catabolic process|multicellular organismal development nucleus|perinuclear region of cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|lung(1)|skin(1) 3 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) TTATTTTTAACTAATATTTTG 0.338 3 52 --- --- --- --- PASS AEBP2 121536 broad.mit.edu 37 12 19667652 19667652 + Missense_Mutation SNP C G G TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr12:19667652C>G uc001ref.2 + 7 1441 c.1415C>G c.(1414-1416)ACT>AGT p.T472S AEBP2_uc001ree.2_Missense_Mutation_p.T472S|AEBP2_uc001reg.1_Missense_Mutation_p.T243S NM_001114176 NP_001107648 Q6ZN18 AEBP2_HUMAN AE binding protein 2 isoform b 472 Interaction with SUZ12. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex DNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143) CAGTTAAAAACTAAAGTAGTT 0.299 3 67 --- --- --- --- PASS SLCO1C1 53919 broad.mit.edu 37 12 20874755 20874755 + Missense_Mutation SNP C A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr12:20874755C>A uc001rej.3 + 9 1148 c.793C>A c.(793-795)CCA>ACA p.P265T SLCO1C1_uc010sii.1_Missense_Mutation_p.P265T|SLCO1C1_uc010sij.1_Missense_Mutation_p.P216T|SLCO1C1_uc009zip.2_Missense_Mutation_p.P99T|SLCO1C1_uc001rei.2_Missense_Mutation_p.P265T|SLCO1C1_uc010sik.1_Missense_Mutation_p.P147T NM_017435 NP_059131 Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, 265 Extracellular (Potential). sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity ovary(5)|pancreas(1)|skin(1) 7 Esophageal squamous(101;0.149) AACCATTACCCCAAAAGATCC 0.388 68 116 --- --- --- --- PASS BCAT1 586 broad.mit.edu 37 12 24985698 24985698 + Missense_Mutation SNP A G G TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr12:24985698A>G uc001rgd.3 - 9 1445 c.1003T>C c.(1003-1005)TGT>CGT p.C335R BCAT1_uc001rgc.2_Missense_Mutation_p.C334R|BCAT1_uc010six.1_Missense_Mutation_p.C347R|BCAT1_uc010siy.1_Missense_Mutation_p.C298R|BCAT1_uc001rge.3_Missense_Mutation_p.C274R NM_005504 NP_005495 P54687 BCAT1_HUMAN branched chain aminotransferase 1, cytosolic 335 branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle cytosol L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity lung(1)|breast(1) 2 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196) Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114) CAAACAACACAGGCTGTACCA 0.423 27 37 --- --- --- --- PASS TMTC1 83857 broad.mit.edu 37 12 29908774 29908774 + Missense_Mutation SNP A G G TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr12:29908774A>G uc001rjb.2 - 4 749 c.275T>C c.(274-276)GTG>GCG p.V92A TMTC1_uc001rjc.1_Missense_Mutation_p.V92A NM_175861 NP_787057 Q8IUR5 TMTC1_HUMAN transmembrane and tetratricopeptide repeat 200 Helical; (Potential). integral to membrane binding 0 Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032) GAAGGGAGACACCGTGGAAGG 0.468 9 157 --- --- --- --- PASS LRRK2 120892 broad.mit.edu 37 12 40703026 40703026 + Silent SNP C T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr12:40703026C>T uc001rmg.3 + 30 4429 c.4308C>T c.(4306-4308)TTC>TTT p.F1436F LRRK2_uc009zjw.2_Silent_p.F274F|LRRK2_uc001rmi.2_Silent_p.F269F NM_198578 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 1436 Roc. activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1) 24 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) CTTGGCTCTTCAATATAAAGG 0.328 15 108 --- --- --- --- PASS MLL2 8085 broad.mit.edu 37 12 49448310 49448310 + Splice_Site SNP C T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr12:49448310C>T uc001rta.3 - 3 400 c.400_splice c.e3+1 p.G134_splice NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 TCCTCACTCACCTCCAGGTTC 0.542 N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 3 32 --- --- --- --- PASS KRT83 3889 broad.mit.edu 37 12 52714744 52714744 + Missense_Mutation SNP T C C TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr12:52714744T>C uc001saf.2 - 1 439 c.376A>G c.(376-378)ATC>GTC p.I126V NM_002282 NP_002273 P78385 KRT83_HUMAN keratin 83 126 Rod.|Coil 1A. epidermis development keratin filament structural molecule activity skin(1) 1 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) ACCTTGTCGATGAAGGCCGCG 0.567 88 276 --- --- --- --- PASS AAAS 8086 broad.mit.edu 37 12 53715196 53715196 + Silent SNP T A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr12:53715196T>A uc001scr.3 - 1 217 c.54A>T c.(52-54)CTA>CTT p.L18L AAAS_uc001scs.3_Silent_p.L18L NM_015665 NP_056480 Q9NRG9 AAAS_HUMAN achalasia, adrenocortical insufficiency, 18 carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction nuclear pore ovary(1) 1 TGTGCTCATATAGGGTGACTT 0.637 OREG0021865 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 139 364 --- --- --- --- PASS TMEM19 55266 broad.mit.edu 37 12 72092691 72092691 + Missense_Mutation SNP G A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr12:72092691G>A uc001sws.2 + 5 1232 c.649G>A c.(649-651)GGA>AGA p.G217R TMEM19_uc001swr.1_Missense_Mutation_p.G203R|TMEM19_uc009zru.1_RNA NM_018279 NP_060749 Q96HH6 TMM19_HUMAN transmembrane protein 19 217 integral to membrane 0 Breast(359;0.0889) GBM - Glioblastoma multiforme(134;0.044) TACCAATGGAGGAGTTACAGT 0.428 89 216 --- --- --- --- PASS TRHDE 29953 broad.mit.edu 37 12 73015511 73015511 + Missense_Mutation SNP G C C TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr12:73015511G>C uc001sxa.2 + 15 2550 c.2520G>C c.(2518-2520)TGG>TGC p.W840C NM_013381 NP_037513 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 840 Extracellular (Potential). cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding ovary(2)|skin(1) 3 TTTCAGATTGGATTTCCAGCA 0.388 28 80 --- --- --- --- PASS NAV3 89795 broad.mit.edu 37 12 78360035 78360035 + Missense_Mutation SNP T A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr12:78360035T>A uc001syp.2 + 4 614 c.441T>A c.(439-441)AGT>AGA p.S147R NAV3_uc001syo.2_Missense_Mutation_p.S147R NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 147 CH. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 TCTGCCTTAGTTTTCTAGCAG 0.338 HNSCC(70;0.22) 15 165 --- --- --- --- PASS CDK17 5128 broad.mit.edu 37 12 96691046 96691046 + Splice_Site SNP A T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr12:96691046A>T uc001tep.1 - 9 1362 c.873_splice c.e9+1 p.K291_splice CDK17_uc009ztk.2_Splice_Site_p.K291_splice|CDK17_uc010svb.1_Splice_Site_p.K238_splice NM_002595 NP_002586 Q00537 CDK17_HUMAN PCTAIRE protein kinase 2 ATP binding|cyclin-dependent protein kinase activity ovary(3)|lung(2)|kidney(1)|central_nervous_system(1) 7 AAGAAAACATACCTTTACGTT 0.363 22 78 --- --- --- --- PASS C12orf48 55010 broad.mit.edu 37 12 102576327 102576327 + Missense_Mutation SNP G T T rs74958875 TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr12:102576327G>T uc001tjf.2 + 9 1297 c.1185G>T c.(1183-1185)AGG>AGT p.R395S C12orf48_uc001tjg.2_Missense_Mutation_p.R314S|C12orf48_uc010swa.1_Missense_Mutation_p.R472S|C12orf48_uc001tjh.2_Missense_Mutation_p.R314S|C12orf48_uc010swb.1_Intron|C12orf48_uc009zuc.2_Intron|C12orf48_uc001tjj.2_Missense_Mutation_p.R110S|C12orf48_uc001tjk.2_Missense_Mutation_p.R274S|C12orf48_uc009zud.2_Intron NM_017915 NP_060385 Q9NWS1 PR1BP_HUMAN hypothetical protein LOC55010 395 response to DNA damage stimulus cytoplasm|nucleus DNA binding 0 TTTGACATAGGTCTCCCACAC 0.239 15 62 --- --- --- --- PASS RBM19 9904 broad.mit.edu 37 12 114387903 114387903 + Missense_Mutation SNP T C C TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr12:114387903T>C uc009zwi.2 - 9 1201 c.1057A>G c.(1057-1059)AAC>GAC p.N353D RBM19_uc001tvn.3_Missense_Mutation_p.N353D|RBM19_uc001tvm.2_Missense_Mutation_p.N353D NM_001146699 NP_001140171 Q9Y4C8 RBM19_HUMAN RNA binding motif protein 19 353 RRM 2. multicellular organismal development|positive regulation of embryonic development chromosome|cytoplasm|nucleolus|nucleoplasm nucleotide binding|RNA binding skin(3)|ovary(1)|liver(1)|central_nervous_system(1) 6 Medulloblastoma(191;0.163)|all_neural(191;0.178) TACTCCCGGTTGCATTTCAGA 0.478 39 198 --- --- --- --- PASS TCTN2 79867 broad.mit.edu 37 12 124158247 124158247 + Missense_Mutation SNP G T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr12:124158247G>T uc001ufp.2 + 4 481 c.353G>T c.(352-354)TGT>TTT p.C118F TCTN2_uc009zya.2_Missense_Mutation_p.C117F NM_024809 NP_079085 Q96GX1 TECT2_HUMAN tectonic family member 2 isoform 1 118 Extracellular (Potential). cilium assembly|smoothened signaling pathway integral to membrane ovary(1) 1 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451) GAGTCCCCCTGTATCCTCCAG 0.458 93 375 --- --- --- --- PASS DNAH10 196385 broad.mit.edu 37 12 124303521 124303521 + Missense_Mutation SNP G T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr12:124303521G>T uc001uft.3 + 21 3476 c.3451G>T c.(3451-3453)GTT>TTT p.V1151F NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1151 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) GAAAGAACTGGTTGATAAGAT 0.363 9 37 --- --- --- --- PASS NCOR2 9612 broad.mit.edu 37 12 124979765 124979765 + Silent SNP C A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr12:124979765C>A uc010tba.1 - 1 150 c.33G>T c.(31-33)ACG>ACT p.T11T NCOR2_uc010tay.1_Silent_p.T11T|NCOR2_uc010taz.1_Silent_p.T11T|NCOR2_uc010tbb.1_Silent_p.T11T|NCOR2_uc010tbc.1_Silent_p.T11T|NCOR2_uc001ugj.1_Silent_p.T11T|NCOR2_uc001ugk.1_Silent_p.T11T NM_001077261 NP_001070729 Q9Y618 NCOR2_HUMAN nuclear receptor co-repressor 2 isoform 2 11 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity skin(3)|ovary(1) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) TGGCCCTCCACGTCTGTGCCA 0.642 21 49 --- --- --- --- PASS EP400 57634 broad.mit.edu 37 12 132496111 132496111 + Missense_Mutation SNP C T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr12:132496111C>T uc001ujn.2 + 15 3408 c.3373C>T c.(3373-3375)CGT>TGT p.R1125C EP400_uc001ujl.2_Missense_Mutation_p.R1124C|EP400_uc001ujm.2_Missense_Mutation_p.R1125C NM_015409 NP_056224 Q96L91 EP400_HUMAN E1A binding protein p400 1161 Interactions with RUVBL1 and RUVBL2.|Helicase ATP-binding. 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) TGAATTGAAACGTTGGTGTCC 0.383 41 147 --- --- --- --- PASS TUBA3C 7278 broad.mit.edu 37 13 19748086 19748086 + Missense_Mutation SNP C A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr13:19748086C>A uc009zzj.2 - 5 1319 c.1270G>T c.(1270-1272)GAC>TAC p.D424Y NM_006001 NP_005992 Q13748 TBA3C_HUMAN tubulin, alpha 3c 424 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity ovary(3)|skin(2) 5 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) GCTGCCAGGTCCTCGCGGGCC 0.582 52 155 --- --- --- --- PASS IFT88 8100 broad.mit.edu 37 13 21163959 21163959 + Missense_Mutation SNP A G G TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr13:21163959A>G uc001unh.2 + 6 586 c.190A>G c.(190-192)AAA>GAA p.K64E IFT88_uc001uni.2_Missense_Mutation_p.K55E|IFT88_uc001unj.2_Missense_Mutation_p.K54E|IFT88_uc010tcq.1_Intron NM_175605 NP_783195 Q13099 IFT88_HUMAN intraflagellar transport 88 homolog isoform 1 64 cilium morphogenesis centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum protein binding ovary(1) 1 all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244) all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528) GATAACTGCTAAAATATCAAG 0.328 27 58 --- --- --- --- PASS SACS 26278 broad.mit.edu 37 13 23911629 23911629 + Missense_Mutation SNP C A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr13:23911629C>A uc001uon.2 - 10 6975 c.6386G>T c.(6385-6387)GGG>GTG p.G2129V SACS_uc001uoo.2_Missense_Mutation_p.G1982V|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 2129 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) AGGGAATCTCCCATCTTTAAT 0.378 39 109 --- --- --- --- PASS BRCA2 675 broad.mit.edu 37 13 32914593 32914593 + Missense_Mutation SNP G A A rs80358849 TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr13:32914593G>A uc001uub.1 + 11 6328 c.6101G>A c.(6100-6102)CGT>CAT p.R2034H NM_000059 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 2034 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1) 64 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) ACTGCTATACGTACTCCAGAA 0.348 D|Mis|N|F|S breast|ovarian|pancreatic breast|ovarian|pancreatic|leukemia (FANCB|FANCD1) Direct_reversal_of_damage|Homologous_recombination Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome TCGA Ovarian(8;0.087) 42 117 --- --- --- --- PASS ALG5 29880 broad.mit.edu 37 13 37539757 37539757 + Missense_Mutation SNP C A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr13:37539757C>A uc001uvy.2 - 8 795 c.728G>T c.(727-729)CGA>CTA p.R243L ALG5_uc010teq.1_Missense_Mutation_p.R213L|ALG5_uc010ter.1_RNA NM_013338 NP_037470 Q9Y673 ALG5_HUMAN dolichyl-phosphate beta-glucosyltransferase 243 Lumenal (Potential). dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity 0 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472) AGCTGCTTCTCGAGTAAATAA 0.448 4 224 --- --- --- --- PASS SLITRK1 114798 broad.mit.edu 37 13 84454001 84454001 + Missense_Mutation SNP C A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr13:84454001C>A uc001vlk.2 - 1 2528 c.1642G>T c.(1642-1644)GGT>TGT p.G548C NM_052910 NP_443142 Q96PX8 SLIK1_HUMAN slit and trk like 1 protein precursor 548 LRRCT 2.|Extracellular (Potential). integral to membrane ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) ACTTCGGAACCCAAGCGTTCT 0.532 21 52 --- --- --- --- PASS SLITRK5 26050 broad.mit.edu 37 13 88329379 88329379 + Missense_Mutation SNP A T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr13:88329379A>T uc001vln.2 + 2 1955 c.1736A>T c.(1735-1737)GAG>GTG p.E579V SLITRK5_uc010tic.1_Missense_Mutation_p.E338V NM_015567 NP_056382 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 precursor 579 LRRCT 2.|Extracellular (Potential). integral to membrane ovary(2)|pancreas(2)|central_nervous_system(1) 5 all_neural(89;0.101)|Medulloblastoma(90;0.163) CTGTGGGTGGAGCAGCTCAAA 0.527 24 243 --- --- --- --- PASS SLITRK5 26050 broad.mit.edu 37 13 88329602 88329602 + Silent SNP C G G TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr13:88329602C>G uc001vln.2 + 2 2178 c.1959C>G c.(1957-1959)GGC>GGG p.G653G SLITRK5_uc010tic.1_Silent_p.G412G NM_015567 NP_056382 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 precursor 653 Extracellular (Potential). integral to membrane ovary(2)|pancreas(2)|central_nervous_system(1) 5 all_neural(89;0.101)|Medulloblastoma(90;0.163) CGAGCTTGGGCGCAGGCGGAG 0.652 19 60 --- --- --- --- PASS OR4K1 79544 broad.mit.edu 37 14 20403890 20403890 + Missense_Mutation SNP G T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr14:20403890G>T uc001vwj.1 + 1 65 c.65G>T c.(64-66)GGA>GTA p.G22V NM_001004063 NP_001004063 Q8NGD4 OR4K1_HUMAN olfactory receptor, family 4, subfamily K, 22 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00124) AATTCCTGGGGACTTCAACTT 0.353 52 834 --- --- --- --- PASS OR4K1 79544 broad.mit.edu 37 14 20404050 20404050 + Missense_Mutation SNP C A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr14:20404050C>A uc001vwj.1 + 1 225 c.225C>A c.(223-225)AAC>AAA p.N75K NM_001004063 NP_001004063 Q8NGD4 OR4K1_HUMAN olfactory receptor, family 4, subfamily K, 75 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00124) GTCAGTCTAACTTTGCCACCC 0.378 105 451 --- --- --- --- PASS OR4K15 81127 broad.mit.edu 37 14 20444630 20444630 + Missense_Mutation SNP T C C TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr14:20444630T>C uc010tkx.1 + 1 953 c.953T>C c.(952-954)GTG>GCG p.V318A NM_001005486 NP_001005486 Q8NH41 OR4KF_HUMAN olfactory receptor, family 4, subfamily K, 318 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;3.58e-06) GBM - Glioblastoma multiforme(265;0.00327) AACAAAGAAGTGAAGGCAGCT 0.383 29 120 --- --- --- --- PASS PYGL 5836 broad.mit.edu 37 14 51398405 51398405 + Nonsense_Mutation SNP G A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr14:51398405G>A uc001wyu.2 - 4 641 c.514C>T c.(514-516)CGA>TGA p.R172* PYGL_uc010tqq.1_Nonsense_Mutation_p.R138*|PYGL_uc001wyv.2_5'UTR|PYGL_uc001wyw.3_Nonsense_Mutation_p.R172* NM_002863 NP_002854 P06737 PYGL_HUMAN liver glycogen phosphorylase isoform 1 172 glucose homeostasis|glucose metabolic process|glycogen catabolic process cytosol|soluble fraction AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding skin(1) 1 all_epithelial(31;0.00825)|Breast(41;0.148) Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140) CATCCATCTCGGATCTTCTGA 0.413 69 154 --- --- --- --- PASS ARID4A 5926 broad.mit.edu 37 14 58790254 58790254 + Missense_Mutation SNP G T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr14:58790254G>T uc001xdp.2 + 8 755 c.501G>T c.(499-501)AAG>AAT p.K167N ARID4A_uc001xdo.2_Missense_Mutation_p.K167N|ARID4A_uc001xdq.2_Missense_Mutation_p.K167N NM_002892 NP_002883 P29374 ARI4A_HUMAN retinoblastoma-binding protein 1 isoform I 167 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter transcriptional repressor complex DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|skin(2)|lung(1) 6 ATGAAGACAAGCGCCGTCTCA 0.373 54 92 --- --- --- --- PASS SYNE2 23224 broad.mit.edu 37 14 64421613 64421613 + Missense_Mutation SNP C A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr14:64421613C>A uc001xgm.2 + 8 997 c.767C>A c.(766-768)CCC>CAC p.P256H SYNE2_uc001xgk.2_Missense_Mutation_p.P256H|SYNE2_uc001xgl.2_Missense_Mutation_p.P256H NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 256 CH 2.|Cytoplasmic (Potential).|Actin-binding. centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TTAAAAATCCCCAGATTGCTG 0.358 41 57 --- --- --- --- PASS ZBTB1 22890 broad.mit.edu 37 14 64989632 64989632 + Silent SNP T C C TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr14:64989632T>C uc001xhh.3 + 4 1841 c.1410T>C c.(1408-1410)TGT>TGC p.C470C ZBTB1_uc010aqg.2_Silent_p.C470C|ZBTB1_uc001xhi.2_Silent_p.C470C NM_001123329 NP_001116801 Q9Y2K1 ZBTB1_HUMAN zinc finger and BTB domain containing 1 isoform 470 C2H2-type 2; atypical. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294) UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012) CTCAACGATGTGGCGAGCCCC 0.423 65 153 --- --- --- --- PASS C14orf49 161176 broad.mit.edu 37 14 95921782 95921782 + Nonsense_Mutation SNP C A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr14:95921782C>A uc001yei.3 - 5 1084 c.1069G>T c.(1069-1071)GAG>TAG p.E357* C14orf49_uc010avi.2_Nonsense_Mutation_p.E357*|C14orf49_uc001yej.1_Nonsense_Mutation_p.E357* NM_152592 NP_689805 Q6ZMZ3 SYNE3_HUMAN nesprin-3 357 Cytoplasmic (Potential). cytoskeletal anchoring at nuclear membrane integral to membrane|nuclear outer membrane|SUN-KASH complex actin binding central_nervous_system(1) 1 all_cancers(154;0.0937) COAD - Colon adenocarcinoma(157;0.245) TGCAGGCCCTCCTGGGCCAGC 0.667 6 46 --- --- --- --- PASS EML1 2009 broad.mit.edu 37 14 100331948 100331948 + Silent SNP G T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr14:100331948G>T uc001ygs.2 + 3 417 c.348G>T c.(346-348)GGG>GGT p.G116G EML1_uc010avt.1_Silent_p.G103G|EML1_uc010tww.1_Silent_p.G85G|EML1_uc001ygq.2_Silent_p.G116G|EML1_uc001ygr.2_Silent_p.G116G NM_004434 NP_004425 O00423 EMAL1_HUMAN echinoderm microtubule associated protein like 1 116 cytoplasm|microtubule|microtubule associated complex calcium ion binding|protein binding large_intestine(2)|pancreas(1)|ovary(1)|skin(1) 5 Melanoma(154;0.0879)|all_epithelial(191;0.216) CCCCCTCCGGGGTCAGGAAAG 0.498 17 69 --- --- --- --- PASS CRIP2 1397 broad.mit.edu 37 14 105945787 105945787 + Silent SNP C G G TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr14:105945787C>G uc001yrd.1 + 7 585 c.516C>G c.(514-516)CCC>CCG p.P172P CRIP2_uc010tyr.1_Silent_p.P246P|CRIP2_uc001yre.1_Silent_p.P244P|CRIP2_uc001yrf.1_RNA|CRIP2_uc001yrg.2_RNA|CRIP2_uc001yrh.1_RNA NM_001312 NP_001303 P52943 CRIP2_HUMAN cysteine-rich protein 2 172 LIM zinc-binding 2. zinc ion binding 0 Melanoma(154;0.226) OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026) Epithelial(152;0.235) ACGGCCAGCCCTACTGCCACA 0.642 10 111 --- --- --- --- PASS OR4N4 283694 broad.mit.edu 37 15 22382732 22382732 + Missense_Mutation SNP C A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr15:22382732C>A uc001yuc.1 + 7 1241 c.260C>A c.(259-261)TCT>TAT p.S87Y LOC727924_uc001yub.1_RNA|OR4N4_uc010tzv.1_Missense_Mutation_p.S87Y NM_001005241 NP_001005241 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, 87 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(4)|skin(1) 5 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) GACTTCCTCTCTGAGAAAAAG 0.507 18 258 --- --- --- --- PASS EIF2AK4 440275 broad.mit.edu 37 15 40280230 40280230 + Missense_Mutation SNP G A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr15:40280230G>A uc001zkm.1 + 15 2500 c.2450G>A c.(2449-2451)GGA>GAA p.G817E EIF2AK4_uc010bbj.1_Missense_Mutation_p.G518E NM_001013703 NP_001013725 Q9P2K8 E2AK4_HUMAN eukaryotic translation initiation factor 2 alpha 817 Protein kinase 2. translation cytosolic ribosome aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity lung(2)|stomach(1)|skin(1) 4 all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616) ATTGACCAGGGACTGTATCGA 0.398 26 185 --- --- --- --- PASS DECR2 26063 broad.mit.edu 37 16 460303 460303 + Missense_Mutation SNP T A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr16:460303T>A uc002chb.2 + 5 504 c.398T>A c.(397-399)GTG>GAG p.V133E DECR2_uc002chc.2_Missense_Mutation_p.V49E|DECR2_uc010bqv.2_Missense_Mutation_p.V49E|DECR2_uc002chd.2_Missense_Mutation_p.V49E|DECR2_uc002che.1_RNA NM_020664 NP_065715 Q9NUI1 DECR2_HUMAN 2,4-dienoyl CoA reductase 2 133 peroxisome 2,4-dienoyl-CoA reductase (NADPH) activity|binding 0 Hepatocellular(16;0.00015) TTCAAGACCGTGATGGACATC 0.607 15 91 --- --- --- --- PASS IFT140 9742 broad.mit.edu 37 16 1607944 1607944 + Silent SNP G T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr16:1607944G>T uc002cmb.2 - 19 2753 c.2391C>A c.(2389-2391)CTC>CTA p.L797L IFT140_uc002clz.2_Silent_p.L448L NM_014714 NP_055529 Q96RY7 IF140_HUMAN intraflagellar transport 140 797 TPR 1. ovary(3)|pancreas(1)|skin(1) 5 Hepatocellular(780;0.219) ACCTTTTGATGAGCTTGATGG 0.547 22 333 --- --- --- --- PASS MMP25 64386 broad.mit.edu 37 16 3107201 3107201 + Nonsense_Mutation SNP C T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr16:3107201C>T uc002cth.2 + 5 1066 c.829C>T c.(829-831)CAA>TAA p.Q277* uc002ctj.1_Intron NM_022468 NP_071913 Q9NPA2 MMP25_HUMAN matrix metalloproteinase 25 preproprotein 277 inflammatory response|proteolysis anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding 0 TGGCCTGCAGCAACTCTATGG 0.622 16 153 --- --- --- --- PASS ACSM3 6296 broad.mit.edu 37 16 20788733 20788733 + Missense_Mutation SNP A G G TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr16:20788733A>G uc002dhr.2 + 4 656 c.469A>G c.(469-471)AAA>GAA p.K157E ACSM3_uc002dhq.2_Missense_Mutation_p.K157E|ACSM3_uc010vba.1_Missense_Mutation_p.K149E NM_005622 NP_005613 Q53FZ2 ACSM3_HUMAN SA hypertension-associated homolog isoform 1 157 regulation of blood pressure mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding ovary(1) 1 GCTGACCCAGAAAGACATTCT 0.388 15 189 --- --- --- --- PASS OTOA 146183 broad.mit.edu 37 16 21721274 21721274 + Silent SNP G A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr16:21721274G>A uc002djh.2 + 12 1171 c.1170G>A c.(1168-1170)TTG>TTA p.L390L uc002diq.3_Intron|OTOA_uc010vbj.1_Silent_p.L311L|OTOA_uc002dji.2_Silent_p.L66L|OTOA_uc010vbk.1_Silent_p.L38L NM_144672 NP_653273 Q7RTW8 OTOAN_HUMAN otoancorin isoform 1 404 sensory perception of sound anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix ovary(1)|central_nervous_system(1)|skin(1) 3 GBM - Glioblastoma multiforme(48;0.0414) TGGGTTCTTTGTCGGATGCAG 0.547 9 93 --- --- --- --- PASS ZKSCAN2 342357 broad.mit.edu 37 16 25255279 25255279 + Missense_Mutation SNP C A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr16:25255279C>A uc002dod.3 - 6 2215 c.1808G>T c.(1807-1809)AGG>ATG p.R603M ZKSCAN2_uc010vcl.1_Missense_Mutation_p.R399M NM_001012981 NP_001012999 Q63HK3 ZKSC2_HUMAN zinc finger with KRAB and SCAN domains 2 603 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3)|breast(1) 4 GBM - Glioblastoma multiforme(48;0.0378) TCTTTCTTGCCTTGAAGGTGA 0.542 84 193 --- --- --- --- PASS HS3ST4 9951 broad.mit.edu 37 16 26147076 26147076 + Missense_Mutation SNP G C C TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr16:26147076G>C uc002dof.2 + 2 1270 c.878G>C c.(877-879)AGG>ACG p.R293T NM_006040 NP_006031 Q9Y661 HS3S4_HUMAN heparan sulfate D-glucosaminyl 293 Lumenal (Potential).|PAPS and substrate (By similarity). heparan sulfate proteoglycan metabolic process extracellular region|Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity large_intestine(1)|breast(1) 2 GBM - Glioblastoma multiforme(48;0.0988) CCCGTGACCAGGGCCATCTCT 0.527 71 171 --- --- --- --- PASS ITGAD 3681 broad.mit.edu 37 16 31419188 31419188 + Silent SNP C T T rs145577588 TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr16:31419188C>T uc002ebv.1 + 9 1009 c.960C>T c.(958-960)GCC>GCT p.A320A ITGAD_uc010vfl.1_Missense_Mutation_p.P353S|ITGAD_uc010cap.1_Silent_p.A320A|ITGAD_uc002ebw.1_Missense_Mutation_p.P164S NM_005353 NP_005344 Q13349 ITAD_HUMAN integrin, alpha D precursor 320 Extracellular (Potential).|VWFA. cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity skin(1) 1 ACTTTGCAGCCCTTGGCAGCA 0.587 12 111 --- --- --- --- PASS ARMC5 79798 broad.mit.edu 37 16 31473727 31473727 + Missense_Mutation SNP G T T rs118073437 by1000genomes TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr16:31473727G>T uc002ecc.2 + 3 1388 c.859G>T c.(859-861)GTC>TTC p.V287F ARMC5_uc010vfn.1_Missense_Mutation_p.V382F|ARMC5_uc010vfo.1_Missense_Mutation_p.V319F|ARMC5_uc002eca.3_Missense_Mutation_p.V287F|ARMC5_uc010vfp.1_Intron|ARMC5_uc002ecb.2_Missense_Mutation_p.V287F NM_001105247 NP_001098717 Q96C12 ARMC5_HUMAN armadillo repeat containing 5 isoform a 287 ARM 4. binding pancreas(1) 1 GGGCCCACTCGTCAGCCTGGC 0.652 20 61 --- --- --- --- PASS ITFG1 81533 broad.mit.edu 37 16 47494854 47494854 + Missense_Mutation SNP G A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr16:47494854G>A uc002eet.2 - 1 165 c.103C>T c.(103-105)CAC>TAC p.H35Y ITFG1_uc010vgh.1_Intron|PHKB_uc010vgi.1_5'Flank|PHKB_uc002eeu.3_5'Flank|PHKB_uc002eev.3_5'Flank|ITFG1_uc010cbf.1_5'Flank NM_030790 NP_110417 Q8TB96 TIP_HUMAN integrin alpha FG-GAP repeat containing 1 35 extracellular region|integral to membrane ovary(1)|central_nervous_system(1) 2 all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227) GTGACGTTGTGCAGCGCCCGC 0.716 6 25 --- --- --- --- PASS ABCC12 94160 broad.mit.edu 37 16 48158147 48158147 + Missense_Mutation SNP G C C TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr16:48158147G>C uc002efc.1 - 10 1910 c.1564C>G c.(1564-1566)CTC>GTC p.L522V ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA|ABCC12_uc002efe.1_Missense_Mutation_p.L522V NM_033226 NP_150229 Q96J65 MRP9_HUMAN ATP-binding cassette protein C12 522 ABC transporter 1. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(2)|skin(1) 3 all_cancers(37;0.0474)|all_lung(18;0.047) GCTGCAAGGAGGGAGCTCTTT 0.507 156 365 --- --- --- --- PASS ADCY7 113 broad.mit.edu 37 16 50348274 50348274 + Missense_Mutation SNP C G G TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr16:50348274C>G uc002egd.1 + 23 3196 c.2928C>G c.(2926-2928)GAC>GAG p.D976E NM_001114 NP_001105 P51828 ADCY7_HUMAN adenylate cyclase 7 976 Cytoplasmic (Potential).|Guanylate cyclase 2. activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding skin(1) 1 all_cancers(37;0.0127) GBM - Glioblastoma multiforme(240;0.195) Bromocriptine(DB01200) GTAAGCTGGACGGCATCAACA 0.637 7 61 --- --- --- --- PASS SLC12A3 6559 broad.mit.edu 37 16 56917983 56917983 + Silent SNP C T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr16:56917983C>T uc010ccm.2 + 14 1721 c.1692C>T c.(1690-1692)TAC>TAT p.Y564Y SLC12A3_uc002ekd.3_Silent_p.Y564Y|SLC12A3_uc010ccn.2_Silent_p.Y563Y NM_001126108 NP_001119580 P55017 S12A3_HUMAN solute carrier family 12, member 3 isoform 3 564 Cytoplasmic (Potential). sodium ion transmembrane transport apical plasma membrane|integral to plasma membrane|membrane fraction sodium:chloride symporter activity ovary(2)|breast(1) 3 Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325) CATTCCAATACTACAACAAGT 0.612 8 82 --- --- --- --- PASS DDX28 55794 broad.mit.edu 37 16 68055731 68055731 + Missense_Mutation SNP G A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr16:68055731G>A uc002evh.1 - 1 2229 c.1375C>T c.(1375-1377)CGG>TGG p.R459W DUS2L_uc002evi.2_5'Flank|DUS2L_uc002evj.2_5'Flank|DUS2L_uc010vkk.1_5'Flank NM_018380 NP_060850 Q9NUL7 DDX28_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 28 459 Helicase C-terminal. mitochondrial nucleoid|nucleus ATP binding|ATP-dependent helicase activity|RNA binding skin(1) 1 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233) TCCAGGCCCCGAGAGGCTATG 0.552 12 77 --- --- --- --- PASS DDX28 55794 broad.mit.edu 37 16 68056949 68056949 + Missense_Mutation SNP G A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr16:68056949G>A uc002evh.1 - 1 1011 c.157C>T c.(157-159)CGG>TGG p.R53W DUS2L_uc002evi.2_5'Flank|DUS2L_uc002evj.2_5'Flank|DUS2L_uc010vkk.1_5'Flank NM_018380 NP_060850 Q9NUL7 DDX28_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 28 53 mitochondrial nucleoid|nucleus ATP binding|ATP-dependent helicase activity|RNA binding skin(1) 1 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233) AGGTTCCGCCGCCTGCTCTGC 0.731 6 15 --- --- --- --- PASS MARVELD3 91862 broad.mit.edu 37 16 71663316 71663316 + Silent SNP C A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr16:71663316C>A uc002fat.2 + 2 577 c.514C>A c.(514-516)CGA>AGA p.R172R MARVELD3_uc002fas.1_Silent_p.R172R|MARVELD3_uc002fau.2_Silent_p.R172R|MARVELD3_uc010cge.2_Missense_Mutation_p.D117E NM_052858 NP_443090 Q96A59 MALD3_HUMAN MARVEL domain containing 3 isoform 2 172 Cytoplasmic (Potential). integral to membrane skin(1) 1 Ovarian(137;0.125) CAGGCCTGGACGAGAGGAGGT 0.517 16 104 --- --- --- --- PASS ZC3H18 124245 broad.mit.edu 37 16 88643785 88643785 + Missense_Mutation SNP T A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr16:88643785T>A uc002fky.2 + 2 454 c.254T>A c.(253-255)GTG>GAG p.V85E ZC3H18_uc010voy.1_Splice_Site_p.E84_splice|ZC3H18_uc010voz.1_Missense_Mutation_p.V85E|ZC3H18_uc010vpa.1_Missense_Mutation_p.V85E NM_144604 NP_653205 Q86VM9 ZCH18_HUMAN zinc finger CCCH-type containing 18 85 nucleus nucleic acid binding|zinc ion binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.0542) GACTCAGAGGTGAATGAGCTG 0.632 5 30 --- --- --- --- PASS ZNF276 92822 broad.mit.edu 37 16 89799888 89799888 + Splice_Site SNP A T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr16:89799888A>T uc002fos.3 + 8 1378 c.1281_splice c.e8-2 p.R427_splice ZNF276_uc010ciq.2_Splice_Site_p.R213_splice|ZNF276_uc002fop.2_Splice_Site_p.R335_splice|ZNF276_uc002foq.3_Splice_Site_p.R352_splice|ZNF276_uc010cir.2_Splice_Site|ZNF276_uc002for.3_Splice_Site_p.R213_splice|ZNF276_uc010cis.2_Splice_Site_p.R186_splice|ZNF276_uc002fot.3_Splice_Site|ZNF276_uc010vpm.1_Splice_Site_p.R265_splice|ZNF276_uc010cit.1_Splice_Site_p.R186_splice NM_001113525 NP_001106997 Q8N554 ZN276_HUMAN zinc finger protein 276 isoform a regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256) BRCA - Breast invasive adenocarcinoma(80;0.0278) TCTTCATTGCAGGGAGGAGCT 0.627 15 130 --- --- --- --- PASS SMG6 23293 broad.mit.edu 37 17 2202478 2202478 + Silent SNP C T T rs147802850 byFrequency TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr17:2202478C>T uc002fub.1 - 2 1624 c.1569G>A c.(1567-1569)ACG>ACA p.T523T SMG6_uc002fud.1_Silent_p.T492T NM_017575 NP_060045 Q86US8 EST1A_HUMAN Smg-6 homolog, nonsense mediated mRNA decay 523 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding central_nervous_system(2)|lung(1)|kidney(1) 4 GGTTATAGCCCGTATAGGGAT 0.537 6 399 --- --- --- --- PASS ZZEF1 23140 broad.mit.edu 37 17 3919650 3919650 + Silent SNP C A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr17:3919650C>A uc002fxe.2 - 49 8176 c.8112G>T c.(8110-8112)TCG>TCT p.S2704S ZZEF1_uc002fxg.1_Silent_p.S25S NM_015113 NP_055928 O43149 ZZEF1_HUMAN zinc finger, ZZ type with EF hand domain 1 2704 calcium ion binding|zinc ion binding ovary(2)|central_nervous_system(1)|pancreas(1) 4 ACGGGTGTTTCGACTCCCTCA 0.612 46 148 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7577156 7577156 + Splice_Site SNP C A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr17:7577156C>A uc002gim.2 - 8 977 c.783_splice c.e8-1 p.S261_splice TP53_uc002gig.1_Intron|TP53_uc002gih.2_Splice_Site_p.S261_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Splice_Site_p.S129_splice|TP53_uc010cng.1_Splice_Site_p.S129_splice|TP53_uc002gii.1_Splice_Site_p.S129_splice|TP53_uc010cnh.1_Splice_Site_p.S261_splice|TP53_uc010cni.1_Splice_Site_p.S261_splice|TP53_uc002gij.2_Splice_Site_p.S261_splice NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 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.?(18)|p.0?(7)|p.E258fs*71(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) TAGATTACCACTACTCAGGAT 0.512 111 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) 7 33 --- --- --- --- PASS DHRS7C 201140 broad.mit.edu 37 17 9676195 9676195 + Nonsense_Mutation SNP G A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr17:9676195G>A uc010vvb.1 - 5 619 c.619C>T c.(619-621)CGA>TGA p.R207* DHRS7C_uc010cof.2_Nonsense_Mutation_p.R206* NM_001105571 NP_001099041 A6NNS2 DRS7C_HUMAN dehydrogenase/reductase (SDR family) member 7C 207 extracellular region binding|oxidoreductase activity 0 ACTTCGGCTCGGAGGCAGTCA 0.602 5 36 --- --- --- --- PASS MYO15A 51168 broad.mit.edu 37 17 18023488 18023488 + Missense_Mutation SNP C G G TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr17:18023488C>G uc010vxh.1 + 2 1712 c.1374C>G c.(1372-1374)TTC>TTG p.F458L NM_016239 NP_057323 Q9UKN7 MYO15_HUMAN myosin XV 458 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1) 9 all_neural(463;0.228) CCGCCTTCTTCGAGCAGCAAG 0.642 4 51 --- --- --- --- PASS KCNJ12 3768 broad.mit.edu 37 17 21319268 21319268 + Missense_Mutation SNP G A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr17:21319268G>A uc002gyv.1 + 3 1319 c.614G>A c.(613-615)CGT>CAT p.R205H NM_021012 NP_066292 Q14500 IRK12_HUMAN potassium inwardly-rectifying channel, subfamily 205 Cytoplasmic (By similarity). blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission integral to membrane inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity ovary(3)|skin(1) 4 Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732) Dofetilide(DB00204) GTGGCCCTGCGTGACGGCAAG 0.622 Prostate(3;0.18) 11 48 --- --- --- --- PASS GOSR1 9527 broad.mit.edu 37 17 28819754 28819754 + Missense_Mutation SNP A T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr17:28819754A>T uc002hfe.2 + 6 524 c.498A>T c.(496-498)GAA>GAT p.E166D GOSR1_uc002hfd.2_Missense_Mutation_p.E164D|GOSR1_uc002hff.2_Missense_Mutation_p.E101D NM_004871 NP_004862 O95249 GOSR1_HUMAN golgi SNAP receptor complex member 1 isoform 1 166 Cytoplasmic (Potential). intra-Golgi vesicle-mediated transport|protein transport|retrograde transport, endosome to Golgi Golgi membrane|integral to membrane|SNARE complex SNAP receptor activity 0 TTTTGAAAGAACATGACCACC 0.318 30 134 --- --- --- --- PASS SYNRG 11276 broad.mit.edu 37 17 35898443 35898443 + Missense_Mutation SNP C T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr17:35898443C>T uc002hoa.2 - 18 3583 c.3500G>A c.(3499-3501)GGC>GAC p.G1167D SYNRG_uc010wde.1_Missense_Mutation_p.G1089D|SYNRG_uc010wdf.1_Missense_Mutation_p.G1089D|SYNRG_uc002hoc.2_Missense_Mutation_p.G1088D|SYNRG_uc002hoe.2_Missense_Mutation_p.G1089D|SYNRG_uc002hod.2_Missense_Mutation_p.G1044D|SYNRG_uc010wdg.1_Missense_Mutation_p.G961D|SYNRG_uc002hob.2_Missense_Mutation_p.G1167D NM_007247 NP_009178 Q9UMZ2 SYNRG_HUMAN synergin, gamma isoform 1 1167 endocytosis|intracellular protein transport AP-1 adaptor complex calcium ion binding ovary(2) 2 ATATTCCATGCCTTGAGCTGA 0.308 69 350 --- --- --- --- PASS DNAJC7 7266 broad.mit.edu 37 17 40135656 40135656 + Splice_Site SNP T C C TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr17:40135656T>C uc002hyo.2 - 10 1248 c.1011_splice c.e10-1 p.C337_splice DNAJC7_uc010cxu.2_Splice_Site_p.C281_splice|DNAJC7_uc010cxv.2_Intron|DNAJC7_uc010wgb.1_Splice_Site_p.C281_splice|DNAJC7_uc010wgc.1_Splice_Site_p.C195_splice|DNAJC7_uc002hyp.2_Splice_Site_p.C281_splice NM_003315 NP_003306 Q99615 DNJC7_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 7 chaperone cofactor-dependent protein refolding cytoplasm|cytoskeleton|nucleus heat shock protein binding|unfolded protein binding ovary(1) 1 all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305) TCCATGTAACTGAGAAGGAAA 0.393 6 15 --- --- --- --- PASS RPRML 388394 broad.mit.edu 37 17 45056142 45056142 + Missense_Mutation SNP G A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr17:45056142G>A uc002ilb.2 - 1 473 c.232C>T c.(232-234)CTT>TTT p.L78F GOSR2_uc010wkh.1_Intron NM_203400 NP_981945 Q8N4K4 RPRML_HUMAN reprimo-like 78 Helical; (Potential). integral to membrane 0 ACCACGGTAAGCGACAGCACG 0.682 5 34 --- --- --- --- PASS OSBPL7 114881 broad.mit.edu 37 17 45895919 45895919 + Missense_Mutation SNP G A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr17:45895919G>A uc002ilx.1 - 6 636 c.433C>T c.(433-435)CGC>TGC p.R145C OSBPL7_uc002ilw.1_5'Flank NM_145798 NP_665741 Q9BZF2 OSBL7_HUMAN oxysterol-binding protein-like protein 7 145 lipid transport lipid binding 0 ATGTCCAGGCGGTGGGCTAGG 0.627 8 69 --- --- --- --- PASS KIF2B 84643 broad.mit.edu 37 17 51902007 51902007 + Missense_Mutation SNP A T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr17:51902007A>T uc002iua.2 + 1 1769 c.1613A>T c.(1612-1614)AAC>ATC p.N538I uc010wna.1_RNA NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 538 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity ovary(5)|skin(3) 8 AGATATGCAAACAGAGTAAAA 0.428 26 121 --- --- --- --- PASS VEZF1 7716 broad.mit.edu 37 17 56060750 56060750 + Missense_Mutation SNP T C C TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr17:56060750T>C uc002ivf.1 - 2 181 c.38A>G c.(37-39)CAT>CGT p.H13R VEZF1_uc010dcn.1_5'UTR NM_007146 NP_009077 Q14119 VEZF1_HUMAN zinc finger protein 161 13 cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding ovary(1)|breast(1) 2 GGAAGCTTCATGGGCCTAAAA 0.493 46 148 --- --- --- --- PASS OR4D1 26689 broad.mit.edu 37 17 56232691 56232691 + Missense_Mutation SNP G A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr17:56232691G>A uc010wno.1 + 1 177 c.177G>A c.(175-177)ATG>ATA p.M59I MSX2P1_uc002ivn.2_5'Flank NM_012374 NP_036506 Q15615 OR4D1_HUMAN olfactory receptor, family 4, subfamily D, 59 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 ACACACCCATGTATTTTCTGC 0.478 16 515 --- --- --- --- PASS ABCA9 10350 broad.mit.edu 37 17 67047206 67047206 + Missense_Mutation SNP A T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr17:67047206A>T uc002jhu.2 - 2 205 c.62T>A c.(61-63)CTC>CAC p.L21H ABCA9_uc010dez.2_Missense_Mutation_p.L21H|ABCA9_uc002jhv.2_Missense_Mutation_p.L21H NM_080283 NP_525022 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A, member 9 21 transport integral to membrane ATP binding|ATPase activity ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1) 6 Breast(10;1.47e-12) CCATTTTTTGAGACAGTTCTT 0.373 12 110 --- --- --- --- PASS C17orf70 80233 broad.mit.edu 37 17 79514179 79514179 + Silent SNP G A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr17:79514179G>A uc002kaq.2 - 5 1984 c.1929C>T c.(1927-1929)AGC>AGT p.S643S C17orf70_uc002kao.1_Silent_p.S292S|C17orf70_uc010wuq.1_RNA|C17orf70_uc002kap.2_Silent_p.S492S NM_001109760 NP_001103230 Q0VG06 FP100_HUMAN Fanconi anemia core complex 100 kDa subunit 643 DNA repair cytoplasm|intermediate filament cytoskeleton|nucleoplasm DNA binding ovary(1)|skin(1) 2 all_neural(118;0.0878)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371) CTGTGTGCCTGCTCAGGGGCA 0.692 27 109 --- --- --- --- PASS HEXDC 284004 broad.mit.edu 37 17 80400154 80400154 + Missense_Mutation SNP A C C TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr17:80400154A>C uc002kew.2 + 12 1406 c.1355A>C c.(1354-1356)CAC>CCC p.H452P HEXDC_uc002kev.3_Missense_Mutation_p.T482P|HEXDC_uc010diq.2_Silent_p.A454A|HEXDC_uc010wvm.1_RNA Q8WVB3 HEXDC_HUMAN SubName: Full=Hexosaminidase (Glycosyl hydrolase family 20, catalytic domain) containing, isoform CRA_c; SubName: Full=Hexosaminidase D; 452 carbohydrate metabolic process cytoplasm|nucleus beta-N-acetylhexosaminidase activity|cation binding ovary(1)|skin(1) 2 Breast(20;0.00106)|all_neural(118;0.0804) OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369) GAAAACGTGCACCCCAGCCTG 0.677 9 16 --- --- --- --- PASS LPIN2 9663 broad.mit.edu 37 18 2960765 2960765 + Missense_Mutation SNP G T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr18:2960765G>T uc002klo.2 - 2 313 c.74C>A c.(73-75)GCC>GAC p.A25D NM_014646 NP_055461 Q92539 LPIN2_HUMAN lipin 2 25 N-LIP. fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process cytosol|endoplasmic reticulum membrane|nucleus phosphatidate phosphatase activity|transcription coactivator activity ovary(1)|skin(1) 2 READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156) AGAGAGGGTGGCCTGGTTAAT 0.488 29 81 --- --- --- --- PASS APCDD1 147495 broad.mit.edu 37 18 10471799 10471799 + Missense_Mutation SNP C T T rs143954637 TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr18:10471799C>T uc002kom.3 + 3 869 c.515C>T c.(514-516)CCG>CTG p.P172L NM_153000 NP_694545 Q8J025 APCD1_HUMAN adenomatosis polyposis coli down-regulated 1 172 Extracellular (Potential). hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to plasma membrane Wnt-protein binding 0 READ - Rectum adenocarcinoma(15;0.08) CGCACATGCCCGGGCTTCCTC 0.657 17 189 --- --- --- --- PASS DSEL 92126 broad.mit.edu 37 18 65181205 65181205 + Missense_Mutation SNP C G G TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr18:65181205C>G uc002lke.1 - 2 1895 c.671G>C c.(670-672)CGC>CCC p.R224P NM_032160 NP_115536 Q8IZU8 DSEL_HUMAN dermatan sulfate epimerase-like 214 integral to membrane isomerase activity|sulfotransferase activity ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(42;0.129) GCCCCATGAGCGGACCTTGGA 0.383 17 187 --- --- --- --- PASS ATP9B 374868 broad.mit.edu 37 18 76936834 76936834 + Missense_Mutation SNP A T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr18:76936834A>T uc002lmx.2 + 8 814 c.800A>T c.(799-801)GAT>GTT p.D267V ATP9B_uc002lmv.1_Intron|ATP9B_uc002lmw.1_Missense_Mutation_p.D267V|ATP9B_uc002lmy.1_Intron|ATP9B_uc002lmz.1_5'UTR NM_198531 NP_940933 O43861 ATP9B_HUMAN ATPase, class II, type 9B 267 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity ovary(3) 3 Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171) OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405) ATTCGAACTGATCAACTAGAT 0.468 29 136 --- --- --- --- PASS PQLC1 80148 broad.mit.edu 37 18 77710832 77710832 + Missense_Mutation SNP G A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr18:77710832G>A uc002lnl.2 - 2 267 c.95C>T c.(94-96)CCC>CTC p.P32L PQLC1_uc010dre.2_5'UTR|PQLC1_uc002lnk.2_Missense_Mutation_p.P32L|PQLC1_uc010xfm.1_Missense_Mutation_p.P32L NM_025078 NP_079354 Q8N2U9 PQLC1_HUMAN PQ loop repeat containing 1 isoform 1 32 PQ-loop 1. integral to membrane large_intestine(1)|ovary(1) 2 Esophageal squamous(42;0.0212)|Melanoma(33;0.2) OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258) CGGGACGTAGGGCACCACCCC 0.667 5 23 --- --- --- --- PASS EIF3G 8666 broad.mit.edu 37 19 10226670 10226670 + Missense_Mutation SNP C T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr19:10226670C>T uc002mnd.2 - 8 740 c.676G>A c.(676-678)GGG>AGG p.G226R NM_003755 NP_003746 O75821 EIF3G_HUMAN eukaryotic translation initiation factor 3, 226 cytosol|eukaryotic translation initiation factor 3 complex|nucleus|perinuclear region of cytoplasm nucleotide binding|protein binding|translation initiation factor activity 0 OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05) ATGGACTCCCCGCGGCGGCTG 0.677 12 10 --- --- --- --- PASS RAVER1 125950 broad.mit.edu 37 19 10439520 10439520 + Missense_Mutation SNP G A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr19:10439520G>A uc002moa.2 - 3 685 c.605C>T c.(604-606)TCG>TTG p.S202L NM_133452 NP_597709 Q8IY67 RAVR1_HUMAN RAVER1 185 RRM 2. cytoplasm|nucleus nucleotide binding|protein binding|RNA binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06) ACGGGCAGCCGAGTCCTTCTT 0.642 13 19 --- --- --- --- PASS ATG4D 84971 broad.mit.edu 37 19 10657905 10657905 + Missense_Mutation SNP G C C TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr19:10657905G>C uc002mov.2 + 5 931 c.811G>C c.(811-813)GTG>CTG p.V271L ATG4D_uc010xlh.1_Missense_Mutation_p.V208L|ATG4D_uc010dxh.2_RNA|ATG4D_uc010dxi.2_RNA|ATG4D_uc010dxj.2_Intron NM_032885 NP_116274 Q86TL0 ATG4D_HUMAN APG4 autophagy 4 homolog D 271 autophagy|protein transport cytoplasm cysteine-type endopeptidase activity 0 Epithelial(33;9.2e-06)|all cancers(31;3.9e-05) CCGCCTGGTGGTGTACGTTTC 0.627 9 24 --- --- --- --- PASS ZNF791 163049 broad.mit.edu 37 19 12738992 12738992 + Missense_Mutation SNP G A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr19:12738992G>A uc002mua.2 + 4 811 c.649G>A c.(649-651)GAA>AAA p.E217K ZNF791_uc010xml.1_Missense_Mutation_p.E185K|ZNF791_uc010dyu.1_Missense_Mutation_p.E108K|ZNF791_uc010xmm.1_Missense_Mutation_p.E108K NM_153358 NP_699189 Q3KP31 ZN791_HUMAN zinc finger protein 791 217 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 AAAGCCCTATGAATGTAAACA 0.418 17 94 --- --- --- --- PASS CYP4F12 66002 broad.mit.edu 37 19 15807890 15807890 + Missense_Mutation SNP C A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr19:15807890C>A uc002nbl.2 + 13 1631 c.1570C>A c.(1570-1572)CAG>AAG p.Q524K NM_023944 NP_076433 cytochrome P450, family 4, subfamily F, skin(3)|ovary(2)|central_nervous_system(2) 7 Acute lymphoblastic leukemia(2;0.0367) TGTAAGCTTGCAGTGACTTTC 0.577 26 68 --- --- --- --- PASS CYP4F11 57834 broad.mit.edu 37 19 16032946 16032946 + Nonsense_Mutation SNP C T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr19:16032946C>T uc002nbu.2 - 9 1052 c.1016G>A c.(1015-1017)TGG>TAG p.W339* CYP4F11_uc010eab.1_Nonsense_Mutation_p.W339*|CYP4F11_uc002nbt.2_Nonsense_Mutation_p.W339* NM_001128932 NP_001122404 Q9HBI6 CP4FB_HUMAN cytochrome P450 family 4 subfamily F polypeptide 339 inflammatory response|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding ovary(1) 1 GTATAGGACCCAGGAGAGACC 0.542 9 141 --- --- --- --- PASS MAP1S 55201 broad.mit.edu 37 19 17835951 17835951 + Missense_Mutation SNP G T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr19:17835951G>T uc002nhe.1 + 4 406 c.397G>T c.(397-399)GGG>TGG p.G133W MAP1S_uc010eaz.1_RNA|MAP1S_uc010eba.1_Missense_Mutation_p.G133W|MAP1S_uc002nhf.1_Intron|MAP1S_uc010xpv.1_Missense_Mutation_p.G107W NM_018174 NP_060644 Q66K74 MAP1S_HUMAN BPY2 interacting protein 1 133 Necessary for the microtubule-organizing center localization. apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse actin filament binding|beta-tubulin binding|DNA binding|microtubule binding central_nervous_system(1) 1 GCTACAGACAGGGGGCTTCTC 0.622 55 110 --- --- --- --- PASS ZNF708 7562 broad.mit.edu 37 19 21477059 21477059 + Missense_Mutation SNP A T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr19:21477059A>T uc002npq.1 - 4 907 c.709T>A c.(709-711)TCA>ACA p.S237T ZNF708_uc002npr.1_Missense_Mutation_p.S173T|ZNF708_uc010ecs.1_Missense_Mutation_p.S173T NM_021269 NP_067092 P17019 ZN708_HUMAN zinc finger protein 708 237 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(4)|skin(2) 6 GTAAGAGTTGAGGACTGGTTA 0.353 28 71 --- --- --- --- PASS ZNF676 163223 broad.mit.edu 37 19 22375845 22375845 + Silent SNP T G G TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr19:22375845T>G uc002nqs.1 - 2 421 c.103A>C c.(103-105)AGA>CGA p.R35R NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 35 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) ATCTCATGTCTCTTCATATTC 0.413 45 102 --- --- --- --- PASS ZNF536 9745 broad.mit.edu 37 19 30934746 30934746 + Missense_Mutation SNP G C C TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr19:30934746G>C uc002nsu.1 + 2 415 c.277G>C c.(277-279)GAC>CAC p.D93H ZNF536_uc010edd.1_Missense_Mutation_p.D93H NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 93 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) CCGGGAGGTGGACACCAGCCT 0.667 7 25 --- --- --- --- PASS GPI 2821 broad.mit.edu 37 19 34887209 34887209 + Missense_Mutation SNP G A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr19:34887209G>A uc002nvg.1 + 13 1169 c.1066G>A c.(1066-1068)GAC>AAC p.D356N GPI_uc002nvf.2_Missense_Mutation_p.D395N|GPI_uc010xrv.1_Missense_Mutation_p.D367N|GPI_uc010xrw.1_Missense_Mutation_p.D328N|GPI_uc010edl.1_Missense_Mutation_p.D356N|GPI_uc002nvi.1_Missense_Mutation_p.D19N NM_000175 NP_000166 P06744 G6PI_HUMAN glucose phosphate isomerase 356 angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response cytosol|extracellular space|nucleus|plasma membrane cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity ovary(1)|kidney(1) 2 Esophageal squamous(110;0.162) TTTCCAGGGCGACATGGAGTC 0.393 52 239 --- --- --- --- PASS MLL4 9757 broad.mit.edu 37 19 36219920 36219920 + Missense_Mutation SNP C A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr19:36219920C>A uc010eei.2 + 22 4722 c.4722C>A c.(4720-4722)CAC>CAA p.H1574Q NM_014727 NP_055542 Q9UMN6 MLL4_HUMAN myeloid/lymphoid or mixed-lineage leukemia 4 1574 chromatin-mediated maintenance of transcription DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1) 11 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CCTTCTCACACCTGGAGGACC 0.602 13 239 --- --- --- --- PASS WDR62 284403 broad.mit.edu 37 19 36594257 36594257 + Missense_Mutation SNP C T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr19:36594257C>T uc002odc.2 + 30 3603 c.3512C>T c.(3511-3513)ACG>ATG p.T1171M WDR62_uc002odd.2_Missense_Mutation_p.T1176M NM_173636 NP_775907 O43379 WDR62_HUMAN WD repeat domain 62 isoform 2 1171 WD 14. cerebral cortex development nucleus 0 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) CCCTGCCTTACGAGCCTGGCG 0.642 51 143 --- --- --- --- PASS ZNF565 147929 broad.mit.edu 37 19 36673707 36673707 + Silent SNP G A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr19:36673707G>A uc002odn.2 - 5 1269 c.1161C>T c.(1159-1161)GGC>GGT p.G387G ZNF565_uc010ees.2_Silent_p.G322G|ZNF565_uc002odo.2_Silent_p.G387G NM_152477 NP_689690 Q8N9K5 ZN565_HUMAN zinc finger protein 565 387 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.206) AGGGTCTGTCGCCAGTATGGA 0.463 27 307 --- --- --- --- PASS GGN 199720 broad.mit.edu 37 19 38877212 38877212 + Silent SNP G A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr19:38877212G>A uc002oij.1 - 3 825 c.690C>T c.(688-690)GCC>GCT p.A230A GGN_uc002oik.1_Intron|GGN_uc010efy.1_Silent_p.A147A NM_152657 NP_689870 Q86UU5 GGN_HUMAN gametogenetin 230 Interaction with GGNBP1 (By similarity).|Pro-rich. cell differentiation|multicellular organismal development|spermatogenesis 0 all_cancers(60;3.4e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) CCGCAGGCTGGGCCATTTCGC 0.677 5 86 --- --- --- --- PASS CYP2A6 1548 broad.mit.edu 37 19 41356272 41356272 + Missense_Mutation SNP C G G TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr19:41356272C>G uc002opl.3 - 1 81 c.60G>C c.(58-60)TTG>TTC p.L20F CYP2A6_uc010ehe.1_5'UTR|CYP2A6_uc010ehf.1_RNA NM_000762 NP_000753 P11509 CP2A6_HUMAN cytochrome P450, family 2, subfamily A, 20 coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752) AAACAGACATCAAGACCATTA 0.562 10 869 --- --- --- --- PASS PSG2 5670 broad.mit.edu 37 19 43579569 43579569 + Nonsense_Mutation SNP C A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr19:43579569C>A uc002ovr.2 - 3 739 c.646G>T c.(646-648)GAA>TAA p.E216* PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG2_uc002ovq.3_Nonsense_Mutation_p.E216*|PSG2_uc010eiq.1_Nonsense_Mutation_p.E216*|PSG2_uc002ovs.3_Nonsense_Mutation_p.E216*|PSG2_uc002ovt.3_Nonsense_Mutation_p.E216* NM_031246 NP_112536 P11465 PSG2_HUMAN pregnancy specific beta-1-glycoprotein 2 216 Ig-like C2-type 1. cell migration|female pregnancy extracellular region 0 Prostate(69;0.00682) ATTTCACATTCATAGGGTCCT 0.512 191 458 --- --- --- --- PASS GPR4 2828 broad.mit.edu 37 19 46094366 46094366 + Silent SNP G T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr19:46094366G>T uc002pcm.2 - 2 1704 c.759C>A c.(757-759)GGC>GGA p.G253G OPA3_uc010xxk.1_Intron NM_005282 NP_005273 P46093 GPR4_HUMAN G protein-coupled receptor 4 253 Extracellular (Potential). integral to plasma membrane G-protein coupled receptor activity ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223) CCCAGGGGCGGCCCAGGTAGA 0.622 38 58 --- --- --- --- PASS FUT2 2524 broad.mit.edu 37 19 49206451 49206451 + Missense_Mutation SNP G A A rs143120145 byFrequency TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr19:49206451G>A uc002pke.3 + 2 349 c.238G>A c.(238-240)GCC>ACC p.A80T FUT2_uc010emc.2_Missense_Mutation_p.A80T NM_001097638 NP_001091107 Q10981 FUT2_HUMAN fucosyltransferase 2 80 Lumenal (Potential). L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane galactoside 2-alpha-L-fucosyltransferase activity central_nervous_system(1) 1 all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017) GGGCGAGTACGCCACACTGTA 0.627 9 46 --- --- --- --- PASS GPR32 2854 broad.mit.edu 37 19 51274601 51274601 + Missense_Mutation SNP G T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr19:51274601G>T uc010ycf.1 + 1 744 c.744G>T c.(742-744)TGG>TGT p.W248C NM_001506 NP_001497 O75388 GPR32_HUMAN G protein-coupled receptor 32 248 Cytoplasmic (Potential). integral to plasma membrane N-formyl peptide receptor activity upper_aerodigestive_tract(1) 1 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) GGGAGGGCTGGGTCCATGCCA 0.612 8 119 --- --- --- --- PASS SIGLEC14 100049587 broad.mit.edu 37 19 52149112 52149112 + Missense_Mutation SNP C G G TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr19:52149112C>G uc002pxf.3 - 3 743 c.623G>C c.(622-624)GGC>GCC p.G208A NM_001098612 NP_001092082 Q08ET2 SIG14_HUMAN sialic acid binding Ig-like lectin 14 precursor 208 Ig-like C2-type 1.|Extracellular (Potential). cell adhesion integral to membrane|plasma membrane protein binding|sugar binding ovary(1) 1 all_neural(266;0.0299) GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195) GAGGTTGGTGCCATGGTCCTC 0.637 25 64 --- --- --- --- PASS ZNF415 55786 broad.mit.edu 37 19 53612976 53612976 + Missense_Mutation SNP T C C TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr19:53612976T>C uc002qax.2 - 7 815 c.466A>G c.(466-468)AAC>GAC p.N156D ZNF415_uc002qat.2_Missense_Mutation_p.N120D|ZNF415_uc002qaw.2_Missense_Mutation_p.N108D|ZNF415_uc010yds.1_Missense_Mutation_p.N108D|ZNF415_uc010ydt.1_Missense_Mutation_p.N108D|ZNF415_uc002qau.2_Missense_Mutation_p.N95D|ZNF415_uc002qav.2_Missense_Mutation_p.N120D|ZNF415_uc002qba.2_5'UTR|ZNF415_uc002qay.2_Missense_Mutation_p.N95D|ZNF415_uc002qaz.2_Missense_Mutation_p.N156D NR_028343 Q09FC8 ZN415_HUMAN RecName: Full=Zinc finger protein 415; 156 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleolus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(134;0.0191) GTCACTTTGTTGCAATTTCTT 0.373 9 214 --- --- --- --- PASS LILRB5 10990 broad.mit.edu 37 19 54760442 54760442 + Missense_Mutation SNP C A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr19:54760442C>A uc002qex.2 - 3 376 c.265G>T c.(265-267)GTG>TTG p.V89L LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Missense_Mutation_p.V89L|LILRB5_uc002qey.2_Missense_Mutation_p.V89L|LILRB5_uc002qez.2_Missense_Mutation_p.V89L|LILRB5_uc002qfa.1_Missense_Mutation_p.V79L|LILRB5_uc010yes.1_RNA NM_006840 NP_006831 O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, 89 Ig-like C2-type 1.|Extracellular (Potential). cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity ovary(1)|pancreas(1) 2 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CTGTCATACACCGTGGATGGA 0.607 57 486 --- --- --- --- PASS LENG9 94059 broad.mit.edu 37 19 54974197 54974197 + Missense_Mutation SNP C G G TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr19:54974197C>G uc010yez.1 - 1 698 c.579G>C c.(577-579)GAG>GAC p.E193D NM_198988 NP_945339 Q96B70 LENG9_HUMAN leukocyte receptor cluster (LRC) member 9 193 RNA metabolic process intracellular catalytic activity|nucleic acid binding|zinc ion binding 0 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.134) ACTCGGCACCCTCTGCCCCGT 0.731 4 26 --- --- --- --- PASS NLRP7 199713 broad.mit.edu 37 19 55451509 55451509 + Silent SNP C T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr19:55451509C>T uc002qih.3 - 4 754 c.678G>A c.(676-678)CTG>CTA p.L226L NLRP7_uc002qig.3_Silent_p.L226L|NLRP7_uc002qii.3_Silent_p.L226L|NLRP7_uc010esk.2_Silent_p.L226L|NLRP7_uc010esl.2_Silent_p.L254L NM_206828 NP_996611 Q8WX94 NALP7_HUMAN NACHT, leucine rich repeat and PYD containing 7 226 NACHT. ATP binding large_intestine(1)|breast(1)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(193;0.0325) CTTTGGAGATCAGCTCTGCAA 0.552 19 162 --- --- --- --- PASS HSPBP1 23640 broad.mit.edu 37 19 55776691 55776691 + Silent SNP G A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr19:55776691G>A uc002qjx.2 - 6 1208 c.1098C>T c.(1096-1098)CTC>CTT p.L366L HSPBP1_uc002qjy.2_Silent_p.L320L|HSPBP1_uc002qkb.2_Missense_Mutation_p.P317S|HSPBP1_uc002qka.2_Silent_p.L320L|HSPBP1_uc002qkd.2_Silent_p.L320L|HSPBP1_uc002qkc.2_Silent_p.L320L|uc002qke.2_5'Flank NM_012267 NP_036399 Q9NZL4 HPBP1_HUMAN hsp70-interacting protein 323 positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding enzyme inhibitor activity|protein binding 0 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0452) GGTGGCGGAGGAGCTCCTCCA 0.657 42 87 --- --- --- --- PASS ZFP28 140612 broad.mit.edu 37 19 57065666 57065666 + Silent SNP C T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr19:57065666C>T uc002qnj.2 + 8 1583 c.1512C>T c.(1510-1512)CCC>CCT p.P504P uc002qnk.1_Intron NM_020828 NP_065879 Q8NHY6 ZFP28_HUMAN zinc finger protein 28 504 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0302) GGGAGAAACCCTTTGATTGCA 0.438 37 113 --- --- --- --- PASS PEG3 5178 broad.mit.edu 37 19 57326170 57326170 + Missense_Mutation SNP C A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr19:57326170C>A uc002qnu.2 - 7 3991 c.3640G>T c.(3640-3642)GCA>TCA p.A1214S ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.A1185S|PEG3_uc002qnv.2_Missense_Mutation_p.A1214S|PEG3_uc002qnw.2_Missense_Mutation_p.A1090S|PEG3_uc002qnx.2_Missense_Mutation_p.A1088S|PEG3_uc010etr.2_Missense_Mutation_p.A1214S NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 1214 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) TTCCTCTCTGCAGCACGATTC 0.488 45 110 --- --- --- --- PASS ZNF8 7554 broad.mit.edu 37 19 58805630 58805630 + Silent SNP G A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr19:58805630G>A uc002qry.1 + 4 586 c.456G>A c.(454-456)GAG>GAA p.E152E ZNF8_uc002qrz.2_RNA NM_021089 NP_066575 P17098 ZNF8_HUMAN zinc finger protein 8 152 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619) CACTCAAGGAGCAGAATAACT 0.507 16 38 --- --- --- --- PASS ATRN 8455 broad.mit.edu 37 20 3520918 3520918 + Missense_Mutation SNP A T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr20:3520918A>T uc002wim.2 + 3 634 c.544A>T c.(544-546)AGT>TGT p.S182C ATRN_uc002wil.2_Missense_Mutation_p.S182C NM_139321 NP_647537 O75882 ATRN_HUMAN attractin isoform 1 182 Extracellular (Potential).|CUB. inflammatory response extracellular space|integral to plasma membrane receptor activity|sugar binding ovary(1)|breast(1) 2 TACAGAGTGTAGTTGGGACCA 0.338 70 372 --- --- --- --- PASS SLC12A5 57468 broad.mit.edu 37 20 44665972 44665972 + Missense_Mutation SNP G T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr20:44665972G>T uc010zxl.1 + 6 705 c.629G>T c.(628-630)GGC>GTC p.G210V SLC12A5_uc002xra.2_Missense_Mutation_p.G187V|SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Missense_Mutation_p.G187V NM_001134771 NP_001128243 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium-chloride 210 Helical; (Potential). potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) TTCTACCTGGGCACTACCTTT 0.547 14 59 --- --- --- --- PASS CD40 958 broad.mit.edu 37 20 44755307 44755307 + Nonsense_Mutation SNP C T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr20:44755307C>T uc002xrg.1 + 6 603 c.526C>T c.(526-528)CAG>TAG p.Q176* CD40_uc002xrh.1_Intron|CD40_uc002xri.1_Nonsense_Mutation_p.Q176*|CD40_uc002xrj.1_RNA|CD40_uc002xrk.1_Intron|CD40_uc002xrl.1_5'Flank NM_001250 NP_001241 P25942 TNR5_HUMAN CD40 antigen isoform 1 precursor 176 TNFR-Cys 4.|Extracellular (Potential). B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly CD40 receptor complex|extracellular region enzyme binding|receptor activity lung(1)|skin(1) 2 Myeloproliferative disorder(115;0.0122) Simvastatin(DB00641) GGTTGTGCAACAGGCAGGCAC 0.498 Immune_Deficiency_with_Hyper-IgM 20 129 --- --- --- --- PASS CASS4 57091 broad.mit.edu 37 20 55027084 55027084 + Silent SNP T C C TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr20:55027084T>C uc002xxp.2 + 6 1077 c.852T>C c.(850-852)AGT>AGC p.S284S CASS4_uc002xxq.3_Silent_p.S284S|CASS4_uc002xxr.2_Silent_p.S284S|CASS4_uc010zze.1_Silent_p.S230S|CASS4_uc010gio.2_Intron NM_001164116 NP_001157588 Q9NQ75 CASS4_HUMAN HEF-like protein isoform a 284 cell adhesion cytoplasm|cytoskeleton|focal adhesion two-component sensor activity ovary(2)|skin(1) 3 ATCCTCCAAGTGGCAGATCCA 0.507 4 130 --- --- --- --- PASS PMEPA1 56937 broad.mit.edu 37 20 56227421 56227421 + Silent SNP G A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr20:56227421G>A uc002xyq.2 - 4 945 c.552C>T c.(550-552)CGC>CGT p.R184R PMEPA1_uc002xyr.2_Silent_p.R134R|PMEPA1_uc002xys.2_Silent_p.R149R|PMEPA1_uc002xyt.2_Silent_p.R134R NM_020182 NP_064567 Q969W9 PMEPA_HUMAN transmembrane prostate androgen-induced protein 184 Cytoplasmic (Potential). androgen receptor signaling pathway integral to membrane|plasma membrane WW domain binding pancreas(1) 1 TTGGGGGTGCGCGCACCGACT 0.677 11 51 --- --- --- --- PASS GNAS 2778 broad.mit.edu 37 20 57415203 57415203 + Silent SNP C A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr20:57415203C>A uc002xzt.2 + 1 409 c.42C>A c.(40-42)CGC>CGA p.R14R GNASAS_uc002xzs.1_Intron|GNAS_uc002xzu.3_5'Flank|GNAS_uc010gjq.2_5'Flank NM_016592 NP_057676 P63092 GNAS2_HUMAN GNAS complex locus NESP55 Error:Variant_position_missing_in_P63092_after_alignment activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1) 292 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) GCCGAGCTCGCCATAATTACA 0.682 Mis pituitary adenoma McCune-Albright syndrome; pseudohypoparathyroidism|type IA 3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome TSP Lung(22;0.16) 9 66 --- --- --- --- PASS NTSR1 4923 broad.mit.edu 37 20 61386124 61386124 + Missense_Mutation SNP C A A rs140186245 TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr20:61386124C>A uc002ydf.2 + 2 1173 c.802C>A c.(802-804)CGC>AGC p.R268S NM_002531 NP_002522 P30989 NTR1_HUMAN neurotensin receptor 1 268 Cytoplasmic (Potential). endoplasmic reticulum|Golgi apparatus|integral to plasma membrane neurotensin receptor activity, G-protein coupled skin(2)|lung(1)|central_nervous_system(1) 4 Breast(26;3.65e-08) BRCA - Breast invasive adenocarcinoma(19;3.63e-06) CGTCATGGTACGCCAGGCGGC 0.622 17 129 --- --- --- --- PASS DIDO1 11083 broad.mit.edu 37 20 61522414 61522414 + Missense_Mutation SNP C A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr20:61522414C>A uc002ydr.1 - 15 3703 c.3439G>T c.(3439-3441)GGT>TGT p.G1147C DIDO1_uc002yds.1_Missense_Mutation_p.G1147C|DIDO1_uc002ydt.1_Missense_Mutation_p.G1147C|DIDO1_uc002ydu.1_Missense_Mutation_p.G1147C NM_033081 NP_149072 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 isoform c 1147 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(3)|skin(3) 6 Breast(26;5.68e-08) GCTACAACACCAAAGCGGCCA 0.557 15 85 --- --- --- --- PASS LIPI 149998 broad.mit.edu 37 21 15561360 15561360 + Missense_Mutation SNP G C C TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr21:15561360G>C uc002yjm.2 - 2 500 c.490C>G c.(490-492)CTT>GTT p.L164V LIPI_uc010gkw.1_Missense_Mutation_p.L97V NM_198996 NP_945347 Q6XZB0 LIPI_HUMAN lipase, member I 143 lipid catabolic process extracellular region|extracellular space|membrane|plasma membrane heparin binding|phospholipase activity ovary(2) 2 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166) CTTACCAAAAGATTTTTAATG 0.333 8 115 --- --- --- --- PASS NCAM2 4685 broad.mit.edu 37 21 22746194 22746194 + Silent SNP C T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr21:22746194C>T uc002yld.1 + 9 1305 c.1056C>T c.(1054-1056)GGC>GGT p.G352G NCAM2_uc011acb.1_Silent_p.G210G|NCAM2_uc011acc.1_Silent_p.G377G NM_004540 NP_004531 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 precursor 352 Ig-like C2-type 4.|Extracellular (Potential). neuron cell-cell adhesion integral to membrane|plasma membrane ovary(4) 4 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) GCCTGGACGGCCGTATCGAAG 0.413 4 147 --- --- --- --- PASS KRTAP10-7 386675 broad.mit.edu 37 21 46021554 46021554 + Missense_Mutation SNP T G G TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr21:46021554T>G uc002zfn.3 + 2 1043 c.1018T>G c.(1018-1020)TGC>GGC p.C340G C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198689 NP_941962 P60409 KR107_HUMAN keratin associated protein 10-7 345 29.|30 X 5 AA repeats of C-C-X(3). keratin filament 0 GGCCAGCTGCTGCCGCCCAGC 0.701 11 40 --- --- --- --- PASS COL6A1 1291 broad.mit.edu 37 21 47423790 47423790 + Missense_Mutation SNP C A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr21:47423790C>A uc002zhu.1 + 35 3052 c.2950C>A c.(2950-2952)CGC>AGC p.R984S COL6A1_uc010gqd.1_Missense_Mutation_p.R315S|COL6A1_uc002zhv.1_Missense_Mutation_p.R315S|COL6A1_uc002zhw.1_Missense_Mutation_p.R78S NM_001848 NP_001839 P12109 CO6A1_HUMAN collagen, type VI, alpha 1 precursor 984 C-terminal globular domain.|VWFA 3. axon guidance|cell adhesion|protein heterotrimerization collagen type VI|protein complex platelet-derived growth factor binding ovary(1) 1 all_hematologic(128;0.24) Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649) Palifermin(DB00039) GCCCCACATCCGCGTCCTGGT 0.677 29 66 --- --- --- --- PASS AP1B1 162 broad.mit.edu 37 22 29726514 29726514 + Silent SNP C T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr22:29726514C>T uc003afj.2 - 21 2803 c.2619G>A c.(2617-2619)GCG>GCA p.A873A AP1B1_uc003afi.2_Silent_p.A866A|AP1B1_uc003afk.2_Silent_p.A866A|AP1B1_uc003afl.2_Silent_p.A846A|AP1B1_uc003afh.2_Silent_p.A70A|AP1B1_uc011ako.1_Silent_p.A426A NM_001127 NP_001118 Q10567 AP1B1_HUMAN adaptor-related protein complex 1 beta 1 subunit 873 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane protein binding|protein transporter activity ovary(1)|skin(1) 2 GCTTGCTGCTCGCAGCCTCTG 0.652 29 92 --- --- --- --- PASS ASCC2 84164 broad.mit.edu 37 22 30185168 30185168 + Missense_Mutation SNP C T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr22:30185168C>T uc003agr.2 - 20 2213 c.2108G>A c.(2107-2109)CGG>CAG p.R703Q ASCC2_uc003ags.2_RNA|ASCC2_uc003agt.2_Missense_Mutation_p.R703Q|ASCC2_uc011akr.1_Missense_Mutation_p.R627Q NM_032204 NP_115580 Q9H1I8 ASCC2_HUMAN activating signal cointegrator 1 complex subunit 703 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) GCTGTCATGCCGGTACCTGAG 0.642 9 431 --- --- --- --- PASS TCN2 6948 broad.mit.edu 37 22 31019016 31019016 + Missense_Mutation SNP G A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr22:31019016G>A uc003aip.1 + 8 1326 c.1168G>A c.(1168-1170)GGA>AGA p.G390R TCN2_uc003aiq.1_Missense_Mutation_p.G386R|TCN2_uc003air.1_Missense_Mutation_p.G363R NM_000355 NP_000346 P20062 TCO2_HUMAN transcobalamin II precursor 390 cobalamin metabolic process|cobalamin transport|cobalt ion transport extracellular space cobalamin binding central_nervous_system(1) 1 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GAAAGCGGCCGGAGAAAGGGA 0.562 14 135 --- --- --- --- PASS C22orf28 51493 broad.mit.edu 37 22 32791054 32791054 + Missense_Mutation SNP C A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr22:32791054C>A uc003amm.2 - 9 1269 c.1138G>T c.(1138-1140)GCT>TCT p.A380S NM_014306 NP_055121 Q9Y3I0 RTCB_HUMAN hypothetical protein LOC51493 380 cell-matrix adhesion|substrate adhesion-dependent cell spreading|tRNA splicing, via endonucleolytic cleavage and ligation cytoplasm|tRNA-splicing ligase complex ATP binding|metal ion binding|RNA ligase (ATP) activity|vinculin binding 0 GGAGGGAAAGCGCGGGTGGAT 0.478 11 122 --- --- --- --- PASS TRIOBP 11078 broad.mit.edu 37 22 38120361 38120361 + Missense_Mutation SNP A G G TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr22:38120361A>G uc003atr.2 + 7 2069 c.1798A>G c.(1798-1800)ACA>GCA p.T600A TRIOBP_uc003atu.2_Missense_Mutation_p.T428A|TRIOBP_uc003atq.1_Missense_Mutation_p.T600A|TRIOBP_uc003ats.1_Missense_Mutation_p.T428A NM_001039141 NP_001034230 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein isoform 6 600 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1) 1 Melanoma(58;0.0574) CAACCCCACAACATCCTGTGC 0.577 14 157 --- --- --- --- PASS MCHR1 2847 broad.mit.edu 37 22 41077401 41077401 + Silent SNP T G G TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr22:41077401T>G uc003ayz.2 + 2 1006 c.738T>G c.(736-738)CCT>CCG p.P246P MCHR1_uc003aza.2_Silent_p.P135P NM_005297 NP_005288 Q99705 MCHR1_HUMAN G protein-coupled receptor 24 246 Helical; Name=4; (Potential). elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway integral to plasma membrane|nonmotile primary cilium neuropeptide receptor activity 0 GCATCACCCCTGTGTGGCTGT 0.612 28 151 --- --- --- --- PASS ZC3H7B 23264 broad.mit.edu 37 22 41739497 41739497 + Missense_Mutation SNP G A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr22:41739497G>A uc003azw.2 + 13 1592 c.1376G>A c.(1375-1377)CGG>CAG p.R459Q ZC3H7B_uc010gyl.1_Intron NM_017590 NP_060060 Q9UGR2 Z3H7B_HUMAN zinc finger CCCH-type containing 7B 475 interspecies interaction between organisms nucleus nucleic acid binding|protein binding|zinc ion binding central_nervous_system(1) 1 GGCCGGCTCCGGAGCTCGGAG 0.667 10 89 --- --- --- --- PASS FAM19A5 25817 broad.mit.edu 37 22 49042420 49042420 + Missense_Mutation SNP G C C TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr22:49042420G>C uc003bim.3 + 2 241 c.124G>C c.(124-126)GCC>CCC p.A42P FAM19A5_uc003bio.3_Missense_Mutation_p.A35P NM_001082967 NP_001076436 Q7Z5A7 F19A5_HUMAN family with sequence similarity 19 (chemokine 42 extracellular region|integral to membrane large_intestine(1) 1 all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195) UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119) TCAGCTGGCCGCCGGCACCTG 0.577 3 24 --- --- --- --- PASS GLRA2 2742 broad.mit.edu 37 X 14748527 14748527 + Missense_Mutation SNP C A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chrX:14748527C>A uc010nep.2 + 10 1611 c.1279C>A c.(1279-1281)CCA>ACA p.P427T GLRA2_uc010neq.2_Missense_Mutation_p.P427T|GLRA2_uc004cwe.3_Missense_Mutation_p.P427T|GLRA2_uc011mio.1_Missense_Mutation_p.P338T|GLRA2_uc011mip.1_Missense_Mutation_p.P405T NM_001118885 NP_001112357 P23416 GLRA2_HUMAN glycine receptor, alpha 2 isoform A 427 Helical; (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) AGCTGCCTTCCCATTGGCCTT 0.468 59 90 --- --- --- --- PASS PTCHD1 139411 broad.mit.edu 37 X 23410788 23410788 + Missense_Mutation SNP A T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chrX:23410788A>T uc004dal.3 + 3 1161 c.1153A>T c.(1153-1155)ACC>TCC p.T385S NM_173495 NP_775766 Q96NR3 PTHD1_HUMAN patched domain containing 1 385 Helical; (Potential).|SSD. cognition|smoothened signaling pathway integral to membrane|plasma membrane hedgehog receptor activity ovary(4)|kidney(1)|skin(1) 6 GTACCTGGTCACCTTTGGCAT 0.468 53 78 --- --- --- --- PASS FAM48B1 100130302 broad.mit.edu 37 X 24382696 24382696 + Missense_Mutation SNP G T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chrX:24382696G>T uc011mjx.1 + 1 1819 c.1819G>T c.(1819-1821)GGC>TGC p.G607C NM_001136234 NP_001129706 hypothetical protein LOC100130302 kidney(1) 1 AGGCTCCACTGGCCTAAAGGC 0.612 14 11 --- --- --- --- PASS GRIPAP1 56850 broad.mit.edu 37 X 48849876 48849876 + Missense_Mutation SNP G T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chrX:48849876G>T uc004dly.1 - 6 456 c.421C>A c.(421-423)CAG>AAG p.Q141K GRIPAP1_uc004dlz.2_5'Flank|GRIPAP1_uc004dma.2_Intron NM_020137 NP_064522 Q4V328 GRAP1_HUMAN GRIP1 associated protein 1 isoform 1 141 Potential. early endosome breast(2)|kidney(1) 3 TTTTCAGCCTGTAGCCTCAGC 0.617 3 18 --- --- --- --- PASS HUWE1 10075 broad.mit.edu 37 X 53642764 53642764 + Missense_Mutation SNP C T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chrX:53642764C>T uc004dsp.2 - 22 2392 c.1990G>A c.(1990-1992)GAT>AAT p.D664N NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 664 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity ovary(8)|large_intestine(4)|breast(4)|kidney(1) 17 ATGAGCTCATCGACAGCACTC 0.443 29 39 --- --- --- --- PASS ATP7A 538 broad.mit.edu 37 X 77267092 77267092 + Missense_Mutation SNP C G G TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chrX:77267092C>G uc004ecx.3 + 9 2253 c.2093C>G c.(2092-2094)TCT>TGT p.S698C ATP7A_uc004ecw.2_3'UTR NM_000052 NP_000043 Q04656 ATP7A_HUMAN ATPase, Cu++ transporting, alpha polypeptide 698 Extracellular (Potential). ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity 0 CTTCATTCTTCTATGTTCCTG 0.383 17 340 --- --- --- --- PASS APOOL 139322 broad.mit.edu 37 X 84310876 84310876 + Silent SNP G A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chrX:84310876G>A uc004eem.2 + 5 353 c.339G>A c.(337-339)CCG>CCA p.P113P APOOL_uc010nmp.2_Intron NM_198450 NP_940852 Q6UXV4 APOOL_HUMAN apolipoprotein O-like precursor 113 extracellular region 0 ATTTTCTTCCGAAAATGGGAG 0.338 15 8 --- --- --- --- PASS TEX13A 56157 broad.mit.edu 37 X 104464752 104464752 + Missense_Mutation SNP G T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chrX:104464752G>T uc004ema.2 - 2 442 c.330C>A c.(328-330)GAC>GAA p.D110E IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.2_Missense_Mutation_p.D110E NM_031274 NP_112564 Q9BXU3 TX13A_HUMAN testis expressed sequence 13A 110 intracellular zinc ion binding ovary(2) 2 GCTTCTTCAGGTCTGATGCCA 0.617 10 25 --- --- --- --- PASS SERPINA7 6906 broad.mit.edu 37 X 105279114 105279114 + Silent SNP T C C TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chrX:105279114T>C uc004eme.1 - 2 901 c.885A>G c.(883-885)TTA>TTG p.L295L SERPINA7_uc010npd.2_Silent_p.L295L|SERPINA7_uc010npe.1_Silent_p.L295L NM_000354 NP_000345 P05543 THBG_HUMAN serine (or cysteine) proteinase inhibitor, clade 295 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity 0 Levothyroxine(DB00451)|Liothyronine(DB00279) CCTTCTGTAGTAAGCGGTTCC 0.493 132 203 --- --- --- --- PASS AMOT 154796 broad.mit.edu 37 X 112022909 112022909 + Splice_Site SNP C A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chrX:112022909C>A uc004epr.2 - 10 2474 c.2474_splice c.e10-1 p.G825_splice AMOT_uc004eps.2_Splice_Site_p.G416_splice|AMOT_uc011mtc.1_Intron NM_001113490 NP_001106962 Q4VCS5 AMOT_HUMAN angiomotin isoform 1 actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction|tight junction angiostatin binding|protein binding|receptor activity ovary(1) 1 AGGAGAATGCCTACAAATGAA 0.458 19 26 --- --- --- --- PASS RBMX 27316 broad.mit.edu 37 X 135960086 135960086 + Missense_Mutation SNP C T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chrX:135960086C>T uc004fae.1 - 4 586 c.376G>A c.(376-378)GGA>AGA p.G126R RBMX_uc011mwf.1_Intron|RBMX_uc004fad.1_Missense_Mutation_p.G126R|RBMX_uc011mwg.1_Missense_Mutation_p.G87R|RBMX_uc004faf.1_Intron|RBMX_uc010nsf.1_Missense_Mutation_p.G87R|RBMX_uc004fag.1_5'UTR NM_002139 NP_002130 P38159 HNRPG_HUMAN RNA binding motif protein, X-linked isoform 1 126 catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding ovary(1) 1 Acute lymphoblastic leukemia(192;0.000127) ATGTGTCCTCCCCGTGAGGGA 0.547 39 40 --- --- --- --- PASS MAGEC1 9947 broad.mit.edu 37 X 140995307 140995307 + Missense_Mutation SNP C G G TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chrX:140995307C>G uc004fbt.2 + 4 2403 c.2117C>G c.(2116-2118)TCT>TGT p.S706C MAGEC1_uc010nsl.1_Intron NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 706 protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) GACTCCCTGTCTTCTCTCCAT 0.552 HNSCC(15;0.026) 85 90 --- --- --- --- PASS FEZ2 9637 broad.mit.edu 37 2 36785621 36785622 + Frame_Shift_Ins INS - T T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr2:36785621_36785622insT uc002rph.2 - 6 985_986 c.938_939insA c.(937-939)AACfs p.N313fs FEZ2_uc002rpe.2_Frame_Shift_Ins_p.N142fs|FEZ2_uc002rpf.2_Frame_Shift_Ins_p.N142fs|FEZ2_uc002rpg.2_Frame_Shift_Ins_p.N340fs|FEZ2_uc002rpi.2_Frame_Shift_Ins_p.N168fs|FEZ2_uc002rpj.2_Intron NM_005102 NP_005093 Q9UHY8 FEZ2_HUMAN zygin 2 isoform 1 313 axon guidance|signal transduction protein binding ovary(1) 1 all_hematologic(82;0.21) ACGGTGGTCCGTTTTTTTTCTC 0.317 4 2 --- --- --- --- PITX2 5308 broad.mit.edu 37 4 111554138 111554138 + Frame_Shift_Del DEL C - - TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr4:111554138delC uc003iad.2 - 2 599 c.17delG c.(16-18)CGCfs p.R6fs PITX2_uc003iae.2_Frame_Shift_Del_p.R6fs|PITX2_uc010iml.2_5'UTR|PITX2_uc003iaf.2_Frame_Shift_Del_p.R6fs NM_153426 NP_700475 Q99697 PITX2_HUMAN paired-like homeodomain transcription factor 2 6 determination of left/right symmetry|organ morphogenesis transcription factor complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription factor binding 0 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00222) CACCAGTTTGCGGCAGTTGGT 0.602 276 161 --- --- --- --- ZNF431 170959 broad.mit.edu 37 19 21366765 21366765 + Frame_Shift_Del DEL A - - TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chr19:21366765delA uc002npp.2 + 5 1806 c.1659delA c.(1657-1659)TCAfs p.S553fs ZNF431_uc010ecq.2_Frame_Shift_Del_p.S462fs|ZNF431_uc010ecr.2_Frame_Shift_Del_p.S554fs NM_133473 NP_597730 Q8TF32 ZN431_HUMAN zinc finger protein 431 553 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2) 2 ACCAGTCCTCAAACCTTATTA 0.343 75 41 --- --- --- --- COL4A6 1288 broad.mit.edu 37 X 107408661 107408662 + Frame_Shift_Ins INS - A A TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx ca748128-272c-4fad-9a1f-01328b93b3f4 68afa3dd-7970-4f7c-88fe-e20b259e1a7e g.chrX:107408661_107408662insA uc004enw.3 - 38 3852_3853 c.3749_3750insT c.(3748-3750)TTGfs p.L1250fs COL4A6_uc004env.3_Frame_Shift_Ins_p.L1249fs|COL4A6_uc011msn.1_Frame_Shift_Ins_p.L1225fs|COL4A6_uc010npk.2_Frame_Shift_Ins_p.L1225fs|COL4A6_uc010npj.2_5'Flank NM_001847 NP_001838 Q14031 CO4A6_HUMAN type IV alpha 6 collagen isoform A precursor 1250 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding ovary(6)|urinary_tract(1)|large_intestine(1) 8 TGAGTGAGGGCAAGGAGATGCC 0.589 Alport_syndrome_with_Diffuse_Leiomyomatosis 69 44 --- --- --- ---