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 ATAD3B 83858 broad.mit.edu 37 1 1412700 1412700 + Silent SNP G A A rs142559400 byFrequency TCGA-76-4926-01B-01D-1486-08 TCGA-76-4926-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 3c93cb58-d39b-4a5e-907a-8b5438630d21 ecbd11a3-9ac5-4888-9f28-f5a93f45fe50 g.chr1:1412700G>A uc001afv.2 + 2 353 c.252G>A c.(250-252)ACG>ACA p.T84T ATAD3B_uc001afw.2_5'Flank|ATAD3B_uc001afx.2_5'Flank NM_031921 NP_114127 Q5T9A4 ATD3B_HUMAN AAA-ATPase TOB3 84 Potential. ATP binding|nucleoside-triphosphatase activity 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) AGGAGCAGACGCTGCAGTTGG 0.617 MMEL1 79258 broad.mit.edu 37 1 2524281 2524281 + Silent SNP G A A TCGA-76-4926-01B-01D-1486-08 TCGA-76-4926-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 3c93cb58-d39b-4a5e-907a-8b5438630d21 ecbd11a3-9ac5-4888-9f28-f5a93f45fe50 g.chr1:2524281G>A uc001ajy.2 - 20 2206 c.1992C>T c.(1990-1992)GAC>GAT p.D664D MMEL1_uc009vlg.1_RNA NM_033467 NP_258428 Q495T6 MMEL1_HUMAN membrane metallo-endopeptidase-like 1 664 Lumenal (Potential). proteolysis extracellular region|integral to membrane|intracellular membrane-bounded organelle metal ion binding|metalloendopeptidase activity 0 all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634) all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131) CGTTCTGTTCGTCTGCCAGGT 0.637 PLEKHM2 23207 broad.mit.edu 37 1 16044415 16044415 + Missense_Mutation SNP A G G TCGA-76-4926-01B-01D-1486-08 TCGA-76-4926-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 3c93cb58-d39b-4a5e-907a-8b5438630d21 ecbd11a3-9ac5-4888-9f28-f5a93f45fe50 g.chr1:16044415A>G uc010obo.1 + 4 532 c.305A>G c.(304-306)AAC>AGC p.N102S NM_015164 NP_055979 Q8IWE5 PKHM2_HUMAN pleckstrin homology domain containing, family M 102 RUN.|Interaction with KIF5B. Golgi organization cytoplasm kinesin binding ovary(1) 1 Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657) CTGGCCCTCAACGAGAACTCC 0.572 ESPNP 284729 broad.mit.edu 37 1 17034522 17034522 + Missense_Mutation SNP G C C TCGA-76-4926-01B-01D-1486-08 TCGA-76-4926-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 3c93cb58-d39b-4a5e-907a-8b5438630d21 ecbd11a3-9ac5-4888-9f28-f5a93f45fe50 g.chr1:17034522G>C uc001azn.1 - 2 246 c.132C>G c.(130-132)TGC>TGG p.C44W ESPNP_uc010ocj.1_5'UTR NR_026567 RecName: Full=Espin; AltName: Full=Ectoplasmic specialization protein; AltName: Full=Autosomal recessive deafness type 36 protein; 0 GGCCCTCCTGGCACGCCAGGT 0.706 ZSWIM5 57643 broad.mit.edu 37 1 45508897 45508897 + Missense_Mutation SNP A G G TCGA-76-4926-01B-01D-1486-08 TCGA-76-4926-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 3c93cb58-d39b-4a5e-907a-8b5438630d21 ecbd11a3-9ac5-4888-9f28-f5a93f45fe50 g.chr1:45508897A>G uc001cnd.2 - 6 1831 c.1603T>C c.(1603-1605)TGG>CGG p.W535R NM_020883 NP_065934 Q9P217 ZSWM5_HUMAN zinc finger, SWIM domain containing 5 535 zinc ion binding 0 Acute lymphoblastic leukemia(166;0.155) TTACCAAGCCACAGTGGCTGG 0.488 VPS45 11311 broad.mit.edu 37 1 150049176 150049176 + Missense_Mutation SNP G A A TCGA-76-4926-01B-01D-1486-08 TCGA-76-4926-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 3c93cb58-d39b-4a5e-907a-8b5438630d21 ecbd11a3-9ac5-4888-9f28-f5a93f45fe50 g.chr1:150049176G>A uc001etp.2 + 6 1016 c.443G>A c.(442-444)CGA>CAA p.R148Q VPS45_uc010pbp.1_Intron|VPS45_uc010pbq.1_Missense_Mutation_p.R112Q|VPS45_uc010pbs.1_Intron|VPS45_uc001etq.2_5'Flank|VPS45_uc009wlm.1_Intron|VPS45_uc010pbr.1_Missense_Mutation_p.R112Q NM_007259 NP_009190 Q9NRW7 VPS45_HUMAN vacuolar protein sorting 45A 148 blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis endosome membrane|Golgi membrane|integral to membrane of membrane fraction central_nervous_system(1)|skin(1) 2 Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) AAAAAGGGTCGAAATTGGGAT 0.353 KPRP 448834 broad.mit.edu 37 1 152733551 152733551 + Missense_Mutation SNP G A A TCGA-76-4926-01B-01D-1486-08 TCGA-76-4926-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 3c93cb58-d39b-4a5e-907a-8b5438630d21 ecbd11a3-9ac5-4888-9f28-f5a93f45fe50 g.chr1:152733551G>A uc001fal.1 + 2 1545 c.1487G>A c.(1486-1488)CGC>CAC p.R496H NM_001025231 NP_001020402 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 496 Pro-rich. cytoplasm ovary(4)|pancreas(1) 5 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GAGACTTGGCGCAGCCCCAGC 0.647 KIF26B 55083 broad.mit.edu 37 1 245862232 245862232 + Missense_Mutation SNP G A A TCGA-76-4926-01B-01D-1486-08 TCGA-76-4926-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 3c93cb58-d39b-4a5e-907a-8b5438630d21 ecbd11a3-9ac5-4888-9f28-f5a93f45fe50 g.chr1:245862232G>A uc001ibf.1 + 14 6511 c.6071G>A c.(6070-6072)CGC>CAC p.R2024H NM_018012 NP_060482 Q2KJY2 KI26B_HUMAN kinesin family member 26B 2024 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity p.R2024H(1) ovary(3) 3 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) CTGGAACACCGCCAGCAGAGG 0.572 OR2W3 343171 broad.mit.edu 37 1 248059267 248059267 + Missense_Mutation SNP T G G TCGA-76-4926-01B-01D-1486-08 TCGA-76-4926-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 3c93cb58-d39b-4a5e-907a-8b5438630d21 ecbd11a3-9ac5-4888-9f28-f5a93f45fe50 g.chr1:248059267T>G uc001idp.1 + 3 648 c.379T>G c.(379-381)TGC>GGC p.C127G OR2W3_uc010pzb.1_Missense_Mutation_p.C127G NM_001001957 NP_001001957 Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, 127 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1)|pancreas(1) 3 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) TGTGGCTATCTGCAAGCCCCT 0.607 ARHGAP21 57584 broad.mit.edu 37 10 24893240 24893240 + Splice_Site SNP C T T TCGA-76-4926-01B-01D-1486-08 TCGA-76-4926-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 3c93cb58-d39b-4a5e-907a-8b5438630d21 ecbd11a3-9ac5-4888-9f28-f5a93f45fe50 g.chr10:24893240C>T uc001isb.2 - 12 3208 c.2721_splice c.e12+1 p.K907_splice ARHGAP21_uc010qdb.1_Splice_Site|ARHGAP21_uc009xkl.1_Splice_Site_p.K907_splice|ARHGAP21_uc010qdc.1_Splice_Site_p.K742_splice NM_020824 NP_065875 Q5T5U3 RHG21_HUMAN Rho GTPase activating protein 21 signal transduction cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane GTPase activator activity|protein binding ovary(7)|pancreas(1) 8 CTAATACCAACCTTGATTCCC 0.274 ARHGAP21 57584 broad.mit.edu 37 10 24893252 24893252 + Missense_Mutation SNP T C C TCGA-76-4926-01B-01D-1486-08 TCGA-76-4926-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 3c93cb58-d39b-4a5e-907a-8b5438630d21 ecbd11a3-9ac5-4888-9f28-f5a93f45fe50 g.chr10:24893252T>C uc001isb.2 - 12 3197 c.2710A>G c.(2710-2712)AAG>GAG p.K904E ARHGAP21_uc010qdb.1_RNA|ARHGAP21_uc009xkl.1_Missense_Mutation_p.K904E|ARHGAP21_uc010qdc.1_Missense_Mutation_p.K739E NM_020824 NP_065875 Q5T5U3 RHG21_HUMAN Rho GTPase activating protein 21 903 signal transduction cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane GTPase activator activity|protein binding ovary(7)|pancreas(1) 8 TTGATTCCCTTCAGACTAGAT 0.279 OR52N2 390077 broad.mit.edu 37 11 5842404 5842404 + Missense_Mutation SNP C G G TCGA-76-4926-01B-01D-1486-08 TCGA-76-4926-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 3c93cb58-d39b-4a5e-907a-8b5438630d21 ecbd11a3-9ac5-4888-9f28-f5a93f45fe50 g.chr11:5842404C>G uc010qzp.1 + 1 839 c.839C>G c.(838-840)GCC>GGC p.A280G TRIM5_uc001mbq.1_Intron NM_001005174 NP_001005174 Q8NGI0 O52N2_HUMAN olfactory receptor, family 52, subfamily N, 280 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATCATCGTGGCCAACCTTTAT 0.398 TPH1 7166 broad.mit.edu 37 11 18051095 18051095 + Missense_Mutation SNP C T T TCGA-76-4926-01B-01D-1486-08 TCGA-76-4926-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 3c93cb58-d39b-4a5e-907a-8b5438630d21 ecbd11a3-9ac5-4888-9f28-f5a93f45fe50 g.chr11:18051095C>T uc001mnp.2 - 4 460 c.434G>A c.(433-435)CGA>CAA p.R145Q TPH1_uc009yhe.2_RNA NM_004179 NP_004170 P17752 TPH1_HUMAN tryptophan hydroxylase 1 145 aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity 0 L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360) AAAATACTTTCGACGTTTACG 0.264 C11orf9 745 broad.mit.edu 37 11 61541579 61541579 + Missense_Mutation SNP C G G TCGA-76-4926-01B-01D-1486-08 TCGA-76-4926-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 3c93cb58-d39b-4a5e-907a-8b5438630d21 ecbd11a3-9ac5-4888-9f28-f5a93f45fe50 g.chr11:61541579C>G uc001nsc.1 + 8 1352 c.1256C>G c.(1255-1257)ACG>AGG p.T419R C11orf9_uc001nse.1_Missense_Mutation_p.T410R NM_001127392 NP_001120864 Q9Y2G1 MRF_HUMAN myelin gene regulatory factor isoform 2 419 NDT80. central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent integral to membrane|nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1) 1 TACGTCAAGACGCCCGAGGGC 0.587 GPR137 56834 broad.mit.edu 37 11 64056613 64056613 + Splice_Site SNP A C C TCGA-76-4926-01B-01D-1486-08 TCGA-76-4926-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 3c93cb58-d39b-4a5e-907a-8b5438630d21 ecbd11a3-9ac5-4888-9f28-f5a93f45fe50 g.chr11:64056613A>C uc001nzg.1 + 8 1340 c.1032_splice c.e8-2 p.R344_splice GPR137_uc010rni.1_Splice_Site_p.R402_splice|GPR137_uc001nzf.2_Missense_Mutation_p.Q329P|GPR137_uc001nzi.2_Missense_Mutation_p.Q379P|GPR137_uc010rnj.1_3'UTR|KCNK4_uc009ypl.1_5'Flank|KCNK4_uc001nzj.1_5'Flank|KCNK4_uc001nzk.1_5'Flank|KCNK4_uc010rnk.1_5'Flank|KCNK4_uc001nzl.1_5'Flank|KCNK4_uc001nzm.3_5'Flank|KCNK4_uc001nzn.1_5'Flank NM_020155 NP_064540 Q96N19 G137A_HUMAN G protein-coupled receptor 137 integral to membrane central_nervous_system(1) 1 CTCTTCTCCCAGGTGCCAGGA 0.657 SCN4B 6330 broad.mit.edu 37 11 118014756 118014756 + Silent SNP C T T TCGA-76-4926-01B-01D-1486-08 TCGA-76-4926-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 3c93cb58-d39b-4a5e-907a-8b5438630d21 ecbd11a3-9ac5-4888-9f28-f5a93f45fe50 g.chr11:118014756C>T uc001pse.2 - 3 497 c.255G>A c.(253-255)AAG>AAA p.K85K SCN4B_uc010rxu.1_5'UTR|SCN4B_uc010rxv.1_Intron NM_174934 NP_777594 Q8IWT1 SCN4B_HUMAN sodium channel, voltage-gated, type IV, beta 85 Ig-like C2-type.|Extracellular (Potential). voltage-gated sodium channel complex voltage-gated sodium channel activity skin(1) 1 all_hematologic(175;0.0487) Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;3.33e-05)|Epithelial(105;0.00126) ACTTCTCATTCTTCACAGTCC 0.507 TMEM25 84866 broad.mit.edu 37 11 118404798 118404798 + Silent SNP C T T TCGA-76-4926-01B-01D-1486-08 TCGA-76-4926-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 3c93cb58-d39b-4a5e-907a-8b5438630d21 ecbd11a3-9ac5-4888-9f28-f5a93f45fe50 g.chr11:118404798C>T uc010rye.1 + 7 1065 c.891C>T c.(889-891)TCC>TCT p.S297S TMEM25_uc001ptk.3_Silent_p.S297S|TMEM25_uc001pth.2_Silent_p.S253S|TMEM25_uc009zad.2_Silent_p.S253S|TMEM25_uc001pti.2_Silent_p.S149S|TMEM25_uc010ryf.1_Silent_p.S200S|TMEM25_uc001ptl.2_Silent_p.S297S|TMEM25_uc001ptm.2_Silent_p.S253S|TMEM25_uc001ptn.2_Silent_p.S253S NM_032780 NP_116169 Q86YD3 TMM25_HUMAN transmembrane protein 25 isoform 1 297 Cytoplasmic (Potential). extracellular region|integral to membrane|plasma membrane 0 all_hematologic(175;0.0349) Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735) BRCA - Breast invasive adenocarcinoma(274;3.04e-05) AGAACATGTCCCTCCCGTCCA 0.532 ADAMTS8 11095 broad.mit.edu 37 11 130284455 130284455 + Missense_Mutation SNP G C C TCGA-76-4926-01B-01D-1486-08 TCGA-76-4926-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 3c93cb58-d39b-4a5e-907a-8b5438630d21 ecbd11a3-9ac5-4888-9f28-f5a93f45fe50 g.chr11:130284455G>C uc001qgg.3 - 5 1895 c.1537C>G c.(1537-1539)CTA>GTA p.L513V ADAMTS8_uc001qgf.2_5'Flank NM_007037 NP_008968 Q9UP79 ATS8_HUMAN ADAM metallopeptidase with thrombospondin type 1 513 Disintegrin. negative regulation of cell proliferation|proteolysis proteinaceous extracellular matrix heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding central_nervous_system(1) 1 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213) TCCTCAGGTAGACAGCTGCCT 0.637 ARNTL2 56938 broad.mit.edu 37 12 27540171 27540171 + Missense_Mutation SNP G A A TCGA-76-4926-01B-01D-1486-08 TCGA-76-4926-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 3c93cb58-d39b-4a5e-907a-8b5438630d21 ecbd11a3-9ac5-4888-9f28-f5a93f45fe50 g.chr12:27540171G>A uc001rht.1 + 7 593 c.575G>A c.(574-576)GGC>GAC p.G192D ARNTL2_uc001rhw.2_Missense_Mutation_p.G155D|ARNTL2_uc010sjp.1_Missense_Mutation_p.G155D|ARNTL2_uc001rhu.1_Missense_Mutation_p.G178D|ARNTL2_uc009zji.1_Missense_Mutation_p.G158D|ARNTL2_uc001rhv.1_Missense_Mutation_p.G144D NM_020183 NP_064568 Q8WYA1 BMAL2_HUMAN aryl hydrocarbon receptor nuclear 192 PAS 1. circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(1)|skin(1) 2 Colorectal(261;0.0847)|Lung SC(9;0.184) ACTGCAGAAGGCTTCTTATTT 0.274 ESPL1 9700 broad.mit.edu 37 12 53663689 53663689 + Silent SNP C T T TCGA-76-4926-01B-01D-1486-08 TCGA-76-4926-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 3c93cb58-d39b-4a5e-907a-8b5438630d21 ecbd11a3-9ac5-4888-9f28-f5a93f45fe50 g.chr12:53663689C>T uc001sck.2 + 3 1054 c.963C>T c.(961-963)GTC>GTT p.V321V ESPL1_uc001scj.2_5'UTR NM_012291 NP_036423 Q14674 ESPL1_HUMAN separase 321 apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis centrosome|nucleus cysteine-type peptidase activity|protein binding lung(1)|kidney(1)|skin(1) 3 CATCAGCTGTCCTGAGCAAGA 0.577 TXNRD1 7296 broad.mit.edu 37 12 104705084 104705084 + Missense_Mutation SNP G A A TCGA-76-4926-01B-01D-1486-08 TCGA-76-4926-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 3c93cb58-d39b-4a5e-907a-8b5438630d21 ecbd11a3-9ac5-4888-9f28-f5a93f45fe50 g.chr12:104705084G>A uc010swk.1 + 5 453 c.431G>A c.(430-432)AGA>AAA p.R144K TXNRD1_uc010swl.1_5'UTR|TXNRD1_uc010swm.1_Missense_Mutation_p.R46K|TXNRD1_uc010swn.1_5'UTR|TXNRD1_uc010swo.1_5'UTR|TXNRD1_uc010swp.1_Intron|TXNRD1_uc010swq.1_Missense_Mutation_p.R44K|TXNRD1_uc001tku.2_RNA|TXNRD1_uc009zun.2_Missense_Mutation_p.R60K|TXNRD1_uc001tko.1_RNA|TXNRD1_uc001tkp.1_RNA|TXNRD1_uc001tkv.1_RNA NM_001093771 NP_001087240 Q16881 TRXR1_HUMAN thioredoxin reductase 1 isoform 3 144 Glutaredoxin. cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport cytosol|nucleolus electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity 0 CAGGAGGGCAGACTTCAAAAG 0.373 AACS 65985 broad.mit.edu 37 12 125609456 125609457 + Frame_Shift_Del DEL CA - - TCGA-76-4926-01B-01D-1486-08 TCGA-76-4926-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 3c93cb58-d39b-4a5e-907a-8b5438630d21 ecbd11a3-9ac5-4888-9f28-f5a93f45fe50 g.chr12:125609456_125609457delCA uc001uhc.2 + 12 1401_1402 c.1195_1196delCA c.(1195-1197)CACfs p.H399fs AACS_uc001uhd.2_Frame_Shift_Del_p.H399fs|AACS_uc009zyh.2_Intron|AACS_uc009zyi.2_5'UTR NM_023928 NP_076417 Q86V21 AACS_HUMAN acetoacetyl-CoA synthetase 399 fatty acid metabolic process cytosol acetoacetate-CoA ligase activity|ATP binding ovary(1)|liver(1)|central_nervous_system(1) 3 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843) AGTGGAAACCCACAGTCTCCAG 0.505 LRRC57 255252 broad.mit.edu 37 15 42836285 42836285 + Missense_Mutation SNP G A A TCGA-76-4926-01B-01D-1486-08 TCGA-76-4926-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 3c93cb58-d39b-4a5e-907a-8b5438630d21 ecbd11a3-9ac5-4888-9f28-f5a93f45fe50 g.chr15:42836285G>A uc001zqd.1 - 5 1084 c.716C>T c.(715-717)GCG>GTG p.A239V LRRC57_uc001zqc.2_Missense_Mutation_p.A239V NM_153260 NP_694992 Q8N9N7 LRC57_HUMAN leucine rich repeat containing 57 239 0 all_cancers(109;1.99e-12)|all_epithelial(112;5.11e-11)|Lung NSC(122;4.53e-07)|all_lung(180;1.64e-06)|Melanoma(134;0.0262) GBM - Glioblastoma multiforme(94;6.87e-07) AGAACTTCACGCAAACTTCTT 0.408 HMG20A 10363 broad.mit.edu 37 15 77771653 77771653 + Missense_Mutation SNP G A A TCGA-76-4926-01B-01D-1486-08 TCGA-76-4926-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 3c93cb58-d39b-4a5e-907a-8b5438630d21 ecbd11a3-9ac5-4888-9f28-f5a93f45fe50 g.chr15:77771653G>A uc002bcr.2 + 10 1241 c.1040G>A c.(1039-1041)CGT>CAT p.R347H HMG20A_uc002bcs.2_Missense_Mutation_p.R347H NM_018200 NP_060670 Q9NP66 HM20A_HUMAN high-mobility group 20A 347 chromatin modification nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 AGACTCGATCGTTAGGGAATG 0.368 TMC3 342125 broad.mit.edu 37 15 81627093 81627093 + Silent SNP G A A TCGA-76-4926-01B-01D-1486-08 TCGA-76-4926-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 3c93cb58-d39b-4a5e-907a-8b5438630d21 ecbd11a3-9ac5-4888-9f28-f5a93f45fe50 g.chr15:81627093G>A uc002bgo.1 - 21 2427 c.2427C>T c.(2425-2427)GTC>GTT p.V809V TMC3_uc010blr.1_RNA NM_001080532 NP_001074001 Q7Z5M5 TMC3_HUMAN transmembrane channel-like 3 809 Cytoplasmic (Potential). integral to membrane ovary(1)|liver(1) 2 TGGATTTGGGGACCCCAGGGA 0.572 OTOA 146183 broad.mit.edu 37 16 21716537 21716537 + Missense_Mutation SNP C T T TCGA-76-4926-01B-01D-1486-08 TCGA-76-4926-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 3c93cb58-d39b-4a5e-907a-8b5438630d21 ecbd11a3-9ac5-4888-9f28-f5a93f45fe50 g.chr16:21716537C>T uc002djh.2 + 11 1029 c.1028C>T c.(1027-1029)GCC>GTC p.A343V uc002diq.3_Intron|OTOA_uc010vbj.1_Missense_Mutation_p.A264V|OTOA_uc002dji.2_Missense_Mutation_p.A19V|OTOA_uc010vbk.1_5'UTR NM_144672 NP_653273 Q7RTW8 OTOAN_HUMAN otoancorin isoform 1 357 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) TTGCTGGATGCCACTGTGGCT 0.512 GDPD3 79153 broad.mit.edu 37 16 30123709 30123709 + Missense_Mutation SNP C T T rs76435425 TCGA-76-4926-01B-01D-1486-08 TCGA-76-4926-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 3c93cb58-d39b-4a5e-907a-8b5438630d21 ecbd11a3-9ac5-4888-9f28-f5a93f45fe50 g.chr16:30123709C>T uc002dwp.2 - 5 480 c.401G>A c.(400-402)CGT>CAT p.R134H uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|GDPD3_uc002dwq.2_Missense_Mutation_p.R72H|LOC100271831_uc010vei.1_5'Flank NM_024307 NP_077283 Q7L5L3 GDPD3_HUMAN glycerophosphodiester phosphodiesterase domain 134 Extracellular (Potential).|GDPD. glycerol metabolic process|lipid metabolic process integral to membrane glycerophosphodiester phosphodiesterase activity|metal ion binding 0 GTCCTCCAGACGAACCATGCG 0.602 OREG0023731 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) IRF8 3394 broad.mit.edu 37 16 85952071 85952071 + Missense_Mutation SNP G A A TCGA-76-4926-01B-01D-1486-08 TCGA-76-4926-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 3c93cb58-d39b-4a5e-907a-8b5438630d21 ecbd11a3-9ac5-4888-9f28-f5a93f45fe50 g.chr16:85952071G>A uc002fjh.2 + 7 707 c.650G>A c.(649-651)GGC>GAC p.G217D IRF8_uc010chp.2_Intron NM_002163 NP_002154 Q02556 IRF8_HUMAN interferon regulatory factor 8 217 interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway nucleus DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity breast(2)|ovary(1) 3 Prostate(104;0.0771) AAGCTGGTGGGCCAGGCCACC 0.662 SPAG5 10615 broad.mit.edu 37 17 26907060 26907064 + Frame_Shift_Del DEL GGAAG - - TCGA-76-4926-01B-01D-1486-08 TCGA-76-4926-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 3c93cb58-d39b-4a5e-907a-8b5438630d21 ecbd11a3-9ac5-4888-9f28-f5a93f45fe50 g.chr17:26907060_26907064delGGAAG uc002hbq.2 - 16 2852_2856 c.2760_2764delCTTCC c.(2758-2766)ACCTTCCTGfs p.T920fs SGK494_uc010waq.1_Frame_Shift_Del_p.T325fs NM_006461 NP_006452 Q96R06 SPAG5_HUMAN sperm associated antigen 5 920_922 cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization condensed chromosome kinetochore|cytoplasm|spindle pole protein binding central_nervous_system(1) 1 Lung NSC(42;0.00431) ATGCTTCCCAGGAAGGTCCTGTCAT 0.507 MYO18A 399687 broad.mit.edu 37 17 27424907 27424907 + Missense_Mutation SNP T C C TCGA-76-4926-01B-01D-1486-08 TCGA-76-4926-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 3c93cb58-d39b-4a5e-907a-8b5438630d21 ecbd11a3-9ac5-4888-9f28-f5a93f45fe50 g.chr17:27424907T>C uc002hdt.1 - 26 4159 c.4001A>G c.(4000-4002)GAT>GGT p.D1334G MYO18A_uc010wbc.1_Missense_Mutation_p.D876G|MYO18A_uc002hds.2_Missense_Mutation_p.D876G|MYO18A_uc010csa.1_Missense_Mutation_p.D1334G|MYO18A_uc002hdu.1_Missense_Mutation_p.D1334G|MYO18A_uc010wbd.1_Missense_Mutation_p.D1003G NM_078471 NP_510880 Q92614 MY18A_HUMAN myosin 18A isoform a 1334 Potential. anti-apoptosis|DNA metabolic process ER-Golgi intermediate compartment|myosin complex ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity 0 Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) CTTCAGTGCATCGTACTGGGT 0.542 ACE 1636 broad.mit.edu 37 17 61571327 61571327 + Missense_Mutation SNP G A A TCGA-76-4926-01B-01D-1486-08 TCGA-76-4926-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 3c93cb58-d39b-4a5e-907a-8b5438630d21 ecbd11a3-9ac5-4888-9f28-f5a93f45fe50 g.chr17:61571327G>A uc002jau.1 + 21 3203 c.3181G>A c.(3181-3183)GCC>ACC p.A1061T ACE_uc002jav.1_Missense_Mutation_p.A487T|ACE_uc010ddv.1_Missense_Mutation_p.A288T|ACE_uc010wpj.1_Missense_Mutation_p.A487T|ACE_uc002jaw.1_RNA|ACE_uc010wpk.1_Missense_Mutation_p.A307T NM_000789 NP_000780 P12821 ACE_HUMAN angiotensin I converting enzyme 1 isoform 1 1061 Extracellular (Potential).|Peptidase M2 2. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding ovary(2)|upper_aerodigestive_tract(1)|pancreas(1) 4 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) TGACAAGATCGCCTTTATCCC 0.552 PHLPP1 23239 broad.mit.edu 37 18 60645528 60645528 + Missense_Mutation SNP C T T TCGA-76-4926-01B-01D-1486-08 TCGA-76-4926-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 3c93cb58-d39b-4a5e-907a-8b5438630d21 ecbd11a3-9ac5-4888-9f28-f5a93f45fe50 g.chr18:60645528C>T uc002lis.2 + 18 2660 c.2482C>T c.(2482-2484)CGC>TGC p.R828C NM_194449 NP_919431 O60346 PHLP1_HUMAN PH domain and leucine rich repeat protein 1340 PP2C-like. apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling cytosol|membrane|nucleus metal ion binding|protein serine/threonine phosphatase activity 0 TGAGTCCACGCGCATCCTGGG 0.582 ATP8B3 148229 broad.mit.edu 37 19 1795945 1795945 + Missense_Mutation SNP C T T TCGA-76-4926-01B-01D-1486-08 TCGA-76-4926-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 3c93cb58-d39b-4a5e-907a-8b5438630d21 ecbd11a3-9ac5-4888-9f28-f5a93f45fe50 g.chr19:1795945C>T uc002ltw.2 - 18 2218 c.1984G>A c.(1984-1986)GCC>ACC p.A662T ATP8B3_uc002ltv.2_Missense_Mutation_p.A615T|ATP8B3_uc002ltx.2_RNA NM_138813 NP_620168 O60423 AT8B3_HUMAN ATPase, class I, type 8B, member 3 662 Cytoplasmic (Potential). ATP biosynthetic process ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ACCGTGTCGGCGCCCTTGGTG 0.627 OREG0025127 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) MYO9B 4650 broad.mit.edu 37 19 17320489 17320489 + Missense_Mutation SNP C T T TCGA-76-4926-01B-01D-1486-08 TCGA-76-4926-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 3c93cb58-d39b-4a5e-907a-8b5438630d21 ecbd11a3-9ac5-4888-9f28-f5a93f45fe50 g.chr19:17320489C>T uc010eak.2 + 36 5871 c.5719C>T c.(5719-5721)CGC>TGC p.R1907C MYO9B_uc002nfi.2_Missense_Mutation_p.R1907C|MYO9B_uc002nfj.1_Missense_Mutation_p.R1907C|MYO9B_uc002nfm.1_Missense_Mutation_p.R67C NM_004145 NP_004136 Q13459 MYO9B_HUMAN myosin IXB isoform 1 1907 Tail. actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity breast(1) 1 TATCGCCTTCCGCAGGCTTTC 0.587 CRTC1 23373 broad.mit.edu 37 19 18870986 18870986 + Silent SNP C T T rs140237275 byFrequency TCGA-76-4926-01B-01D-1486-08 TCGA-76-4926-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 3c93cb58-d39b-4a5e-907a-8b5438630d21 ecbd11a3-9ac5-4888-9f28-f5a93f45fe50 g.chr19:18870986C>T uc002nkb.3 + 8 922 c.834C>T c.(832-834)ACC>ACT p.T278T CRTC1_uc010ebv.2_Silent_p.T294T|CRTC1_uc010ebw.2_Silent_p.T143T|CRTC1_uc002nkc.3_Silent_p.T143T NM_015321 NP_056136 Q6UUV9 CRTC1_HUMAN mucoepidermoid carcinoma translocated 1 isoform 278 interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane cAMP response element binding protein binding|protein binding CRTC1/MAML2(516) salivary_gland(474)|lung(35)|thyroid(4)|breast(3)|skin(2)|ovary(1) 519 CCAGCAGCACCGGCAACCTCG 0.697 CD177 57126 broad.mit.edu 37 19 43859911 43859911 + Missense_Mutation SNP G C C TCGA-76-4926-01B-01D-1486-08 TCGA-76-4926-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 3c93cb58-d39b-4a5e-907a-8b5438630d21 ecbd11a3-9ac5-4888-9f28-f5a93f45fe50 g.chr19:43859911G>C uc002owi.2 + 4 520 c.478G>C c.(478-480)GAT>CAT p.D160H CD177_uc010eis.2_RNA|CD177_uc002owj.2_RNA NM_020406 NP_065139 Q8N6Q3 CD177_HUMAN CD177 molecule precursor 160 UPAR/Ly6 1. blood coagulation|leukocyte migration anchored to membrane|plasma membrane central_nervous_system(1) 1 Prostate(69;0.00682) ACACTGTTATGATGGCCTCCT 0.582 TPO 7173 broad.mit.edu 37 2 1457495 1457495 + Missense_Mutation SNP C T T rs139312937 TCGA-76-4926-01B-01D-1486-08 TCGA-76-4926-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 3c93cb58-d39b-4a5e-907a-8b5438630d21 ecbd11a3-9ac5-4888-9f28-f5a93f45fe50 g.chr2:1457495C>T uc002qww.2 + 6 603 c.512C>T c.(511-513)ACG>ATG p.T171M TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Missense_Mutation_p.T171M|TPO_uc002qwr.2_Missense_Mutation_p.T171M|TPO_uc002qwx.2_Missense_Mutation_p.T171M|TPO_uc010yio.1_Missense_Mutation_p.T171M|TPO_uc010yip.1_Missense_Mutation_p.T171M NM_000547 NP_000538 P07202 PERT_HUMAN thyroid peroxidase isoform a 171 Extracellular (Potential). cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1) 20 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) GCCTCCAACACGGCCCTGGCA 0.587 TTN 7273 broad.mit.edu 37 2 179438088 179438088 + Silent SNP A G G TCGA-76-4926-01B-01D-1486-08 TCGA-76-4926-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 3c93cb58-d39b-4a5e-907a-8b5438630d21 ecbd11a3-9ac5-4888-9f28-f5a93f45fe50 g.chr2:179438088A>G uc010zfg.1 - 275 65291 c.65067T>C c.(65065-65067)TAT>TAC p.Y21689Y uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.Y15384Y|TTN_uc010zfi.1_Silent_p.Y15317Y|TTN_uc010zfj.1_Silent_p.Y15192Y NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 22616 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) GTTCCACAATATAATTGATGA 0.408 JAG1 182 broad.mit.edu 37 20 10630946 10630946 + Missense_Mutation SNP C T T TCGA-76-4926-01B-01D-1486-08 TCGA-76-4926-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 3c93cb58-d39b-4a5e-907a-8b5438630d21 ecbd11a3-9ac5-4888-9f28-f5a93f45fe50 g.chr20:10630946C>T uc002wnw.2 - 9 1699 c.1183G>A c.(1183-1185)GGA>AGA p.G395R JAG1_uc010gcd.1_5'UTR NM_000214 NP_000205 P78504 JAG1_HUMAN jagged 1 precursor 395 Extracellular (Potential).|EGF-like 5; calcium-binding (Potential). angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation extracellular region|integral to plasma membrane calcium ion binding|growth factor activity|Notch binding|structural molecule activity lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1) 9 CACTTAAATCCGTTAACCAGG 0.463 Alagille_Syndrome CEP250 11190 broad.mit.edu 37 20 34067060 34067060 + Missense_Mutation SNP G A A TCGA-76-4926-01B-01D-1486-08 TCGA-76-4926-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 3c93cb58-d39b-4a5e-907a-8b5438630d21 ecbd11a3-9ac5-4888-9f28-f5a93f45fe50 g.chr20:34067060G>A uc002xcm.2 + 19 2770 c.2099G>A c.(2098-2100)CGT>CAT p.R700H CEP250_uc010zve.1_Missense_Mutation_p.R68H NM_007186 NP_009117 Q9BV73 CP250_HUMAN centrosomal protein 2 700 Gln/Glu-rich.|Potential. centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding ovary(4)|central_nervous_system(1) 5 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) CCTCAGTCACGTCACCAGCAG 0.592 Unknown 0 broad.mit.edu 37 22 20721910 20721910 + Missense_Mutation SNP G T T TCGA-76-4926-01B-01D-1486-08 TCGA-76-4926-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 3c93cb58-d39b-4a5e-907a-8b5438630d21 ecbd11a3-9ac5-4888-9f28-f5a93f45fe50 g.chr22:20721910G>T uc011ahp.1 - 4 404 c.105C>A c.(103-105)TTC>TTA p.F35L uc011ahq.1_Missense_Mutation_p.F143L SubName: Full=cDNA FLJ59031, highly similar to Ubl carboxyl-terminal hydrolase 18 (EC 3.1.2.-); CCCTGGGCTGGAAGAAGCAGT 0.438 PANX2 56666 broad.mit.edu 37 22 50615939 50615939 + Silent SNP C T T rs35622534 TCGA-76-4926-01B-01D-1486-08 TCGA-76-4926-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 3c93cb58-d39b-4a5e-907a-8b5438630d21 ecbd11a3-9ac5-4888-9f28-f5a93f45fe50 g.chr22:50615939C>T uc003bjn.3 + 2 798 c.798C>T c.(796-798)GAC>GAT p.D266D PANX2_uc003bjp.3_Silent_p.D132D|PANX2_uc003bjo.3_Silent_p.D266D NM_052839 NP_443071 Q96RD6 PANX2_HUMAN pannexin 2 isoform 1 266 Extracellular (Potential). protein hexamerization|synaptic transmission gap junction|integral to membrane gap junction hemi-channel activity|ion channel activity breast(1) 1 all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.105) CGTCCCCGGACGGGGCGGCAG 0.692 CELSR3 1951 broad.mit.edu 37 3 48694272 48694272 + Missense_Mutation SNP G A A TCGA-76-4926-01B-01D-1486-08 TCGA-76-4926-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 3c93cb58-d39b-4a5e-907a-8b5438630d21 ecbd11a3-9ac5-4888-9f28-f5a93f45fe50 g.chr3:48694272G>A uc003cul.2 - 2 4539 c.4258C>T c.(4258-4260)CGC>TGC p.R1420C CELSR3_uc003cuf.1_Missense_Mutation_p.R1490C NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN cadherin EGF LAG seven-pass G-type receptor 3 1420 Extracellular (Potential).|EGF-like 1; calcium-binding. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2) 11 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) CAGCGGCAGCGCAGGCCAGCG 0.672 LRRC66 339977 broad.mit.edu 37 4 52862310 52862310 + Missense_Mutation SNP C A A TCGA-76-4926-01B-01D-1486-08 TCGA-76-4926-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 3c93cb58-d39b-4a5e-907a-8b5438630d21 ecbd11a3-9ac5-4888-9f28-f5a93f45fe50 g.chr4:52862310C>A uc003gzi.2 - 4 891 c.878G>T c.(877-879)GGC>GTC p.G293V NM_001024611 NP_001019782 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 293 integral to membrane ovary(1)|central_nervous_system(1)|skin(1) 3 CTGGGGAGTGCCCCCGTTGGC 0.483 FRAS1 80144 broad.mit.edu 37 4 79421050 79421050 + Silent SNP G A A TCGA-76-4926-01B-01D-1486-08 TCGA-76-4926-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 3c93cb58-d39b-4a5e-907a-8b5438630d21 ecbd11a3-9ac5-4888-9f28-f5a93f45fe50 g.chr4:79421050G>A uc003hlb.2 + 61 9731 c.9291G>A c.(9289-9291)AAG>AAA p.K3097K FRAS1_uc003hlc.1_Silent_p.K99K NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 3092 Calx-beta 5.|Extracellular (Potential). cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 ATTACCCAAAGAGCCGAGTCT 0.388 PRKG2 5593 broad.mit.edu 37 4 82126062 82126062 + Missense_Mutation SNP C T T TCGA-76-4926-01B-01D-1486-08 TCGA-76-4926-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 3c93cb58-d39b-4a5e-907a-8b5438630d21 ecbd11a3-9ac5-4888-9f28-f5a93f45fe50 g.chr4:82126062C>T uc003hmh.2 - 1 154 c.140G>A c.(139-141)CGG>CAG p.R47Q PRKG2_uc011cch.1_Missense_Mutation_p.R47Q NM_006259 NP_006250 Q13237 KGP2_HUMAN protein kinase, cGMP-dependent, type II 47 platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1) 7 ATGGTACTCCCGCTCCTGGAT 0.557 RXFP1 59350 broad.mit.edu 37 4 159533468 159533468 + Nonsense_Mutation SNP C T T TCGA-76-4926-01B-01D-1486-08 TCGA-76-4926-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 3c93cb58-d39b-4a5e-907a-8b5438630d21 ecbd11a3-9ac5-4888-9f28-f5a93f45fe50 g.chr4:159533468C>T uc003ipz.2 + 8 716 c.634C>T c.(634-636)CGA>TGA p.R212* RXFP1_uc010iqj.1_Nonsense_Mutation_p.R41*|RXFP1_uc011cja.1_Nonsense_Mutation_p.R131*|RXFP1_uc010iqo.2_Nonsense_Mutation_p.R212*|RXFP1_uc011cjb.1_Nonsense_Mutation_p.R158*|RXFP1_uc010iqk.2_Nonsense_Mutation_p.R80*|RXFP1_uc011cjc.1_Nonsense_Mutation_p.R131*|RXFP1_uc011cjd.1_Nonsense_Mutation_p.R131*|RXFP1_uc010iql.2_Nonsense_Mutation_p.R80*|RXFP1_uc011cje.1_Nonsense_Mutation_p.R239*|RXFP1_uc010iqm.2_Nonsense_Mutation_p.R179*|RXFP1_uc011cjf.1_Nonsense_Mutation_p.R82*|RXFP1_uc010iqn.2_Nonsense_Mutation_p.R158* NM_021634 NP_067647 Q9HBX9 RXFP1_HUMAN relaxin/insulin-like family peptide receptor 1 212 LRR 3.|Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity|metal ion binding 0 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0219) TCACCTCAGTCGAATTTCCCC 0.294 SLC6A18 348932 broad.mit.edu 37 5 1244838 1244838 + Silent SNP C T T TCGA-76-4926-01B-01D-1486-08 TCGA-76-4926-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 3c93cb58-d39b-4a5e-907a-8b5438630d21 ecbd11a3-9ac5-4888-9f28-f5a93f45fe50 g.chr5:1244838C>T uc003jby.1 + 11 1735 c.1612C>T c.(1612-1614)CTG>TTG p.L538L NM_182632 NP_872438 Q96N87 S6A18_HUMAN solute carrier family 6, member 18 538 Helical; Name=11; (Potential). cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity ovary(1) 1 all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10) Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) CATCATCCTCCTGTTCTGGAA 0.617 NSUN2 54888 broad.mit.edu 37 5 6622137 6622137 + Missense_Mutation SNP G A A TCGA-76-4926-01B-01D-1486-08 TCGA-76-4926-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 3c93cb58-d39b-4a5e-907a-8b5438630d21 ecbd11a3-9ac5-4888-9f28-f5a93f45fe50 g.chr5:6622137G>A uc003jdu.2 - 6 679 c.614C>T c.(613-615)CCC>CTC p.P205L NSUN2_uc003jdt.2_5'Flank|NSUN2_uc011cmk.1_Missense_Mutation_p.P170L|NSUN2_uc003jdv.2_Intron NM_017755 NP_060225 Q08J23 NSUN2_HUMAN NOL1/NOP2/Sun domain family, member 2 205 cytoplasm|nucleolus tRNA (cytosine-5-)-methyltransferase activity|tRNA binding ovary(1) 1 ACCTGGAAAGGGGACATTCAT 0.413 UTP15 84135 broad.mit.edu 37 5 72866479 72866480 + Nonsense_Mutation DNP GG TA TA TCGA-76-4926-01B-01D-1486-08 TCGA-76-4926-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 3c93cb58-d39b-4a5e-907a-8b5438630d21 ecbd11a3-9ac5-4888-9f28-f5a93f45fe50 g.chr5:72866479_72866480GG>TA uc003kcw.1 + 6 839_840 c.616_617GG>TA c.(616-618)GGG>TAG p.G206* UTP15_uc011cso.1_Nonsense_Mutation_p.G187*|UTP15_uc011csp.1_Nonsense_Mutation_p.G16*|UTP15_uc010ize.1_Nonsense_Mutation_p.G206* NM_032175 NP_115551 Q8TED0 UTP15_HUMAN UTP15, U3 small nucleolar ribonucleoprotein, 206 WD 5. rRNA processing cytoplasm|nucleolus 0 Lung NSC(167;0.00405)|Ovarian(174;0.0129) OV - Ovarian serous cystadenocarcinoma(47;7.76e-55) CGTTGAGCATGGGCAGCCAGTG 0.401 CMYA5 202333 broad.mit.edu 37 5 79026182 79026182 + Missense_Mutation SNP G A A TCGA-76-4926-01B-01D-1486-08 TCGA-76-4926-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 3c93cb58-d39b-4a5e-907a-8b5438630d21 ecbd11a3-9ac5-4888-9f28-f5a93f45fe50 g.chr5:79026182G>A uc003kgc.2 + 2 1666 c.1594G>A c.(1594-1596)GTA>ATA p.V532I NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 532 Glu-rich. perinuclear region of cytoplasm ovary(6)|pancreas(2)|lung(1) 9 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) AGAAGAGATCGTAGAACTTGA 0.418 PCDHGA1 56114 broad.mit.edu 37 5 140712004 140712004 + Missense_Mutation SNP G A A TCGA-76-4926-01B-01D-1486-08 TCGA-76-4926-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 3c93cb58-d39b-4a5e-907a-8b5438630d21 ecbd11a3-9ac5-4888-9f28-f5a93f45fe50 g.chr5:140712004G>A uc003lji.1 + 1 1753 c.1753G>A c.(1753-1755)GGC>AGC p.G585S PCDHGA1_uc011dan.1_Missense_Mutation_p.G585S NM_018912 NP_061735 Q9Y5H4 PCDG1_HUMAN protocadherin gamma subfamily A, 1 isoform 1 585 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|breast(1)|pancreas(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCAGAGCCCGGCTACCTGGT 0.677 BTN1A1 696 broad.mit.edu 37 6 26508920 26508920 + Silent SNP A C C TCGA-76-4926-01B-01D-1486-08 TCGA-76-4926-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 3c93cb58-d39b-4a5e-907a-8b5438630d21 ecbd11a3-9ac5-4888-9f28-f5a93f45fe50 g.chr6:26508920A>C uc003nif.3 + 7 1119 c.1099A>C c.(1099-1101)AGG>CGG p.R367R NM_001732 NP_001723 Q13410 BT1A1_HUMAN butyrophilin, subfamily 1, member A1 precursor 367 B30.2/SPRY.|Cytoplasmic (Potential). extracellular region|integral to plasma membrane receptor activity ovary(1)|skin(1) 2 GGTGGGAGACAGGACTGACTG 0.532 KCTD20 222658 broad.mit.edu 37 6 36437942 36437942 + Missense_Mutation SNP A G G TCGA-76-4926-01B-01D-1486-08 TCGA-76-4926-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 3c93cb58-d39b-4a5e-907a-8b5438630d21 ecbd11a3-9ac5-4888-9f28-f5a93f45fe50 g.chr6:36437942A>G uc003ome.2 + 2 459 c.68A>G c.(67-69)GAT>GGT p.D23G KCTD20_uc011dtm.1_5'UTR|KCTD20_uc011dtn.1_5'UTR|KCTD20_uc010jwk.2_Missense_Mutation_p.D23G|KCTD20_uc011dto.1_Intron NM_173562 NP_775833 Q7Z5Y7 KCD20_HUMAN potassium channel tetramerisation domain 23 voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(2) 2 TTAGTGGATGATACTTTAGCT 0.473 TFAP2D 83741 broad.mit.edu 37 6 50740520 50740520 + Silent SNP C T T TCGA-76-4926-01B-01D-1486-08 TCGA-76-4926-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 3c93cb58-d39b-4a5e-907a-8b5438630d21 ecbd11a3-9ac5-4888-9f28-f5a93f45fe50 g.chr6:50740520C>T uc003paf.2 + 8 1814 c.1302C>T c.(1300-1302)CCC>CCT p.P434P TFAP2D_uc011dwt.1_RNA NM_172238 NP_758438 Q7Z6R9 AP2D_HUMAN transcription factor AP-2 beta-like 1 434 DNA binding|sequence-specific DNA binding transcription factor activity ovary(6)|breast(1) 7 Lung NSC(77;0.0334) AGAAAGCTCCCCTGCGGAAAA 0.483 IBTK 25998 broad.mit.edu 37 6 82924063 82924066 + Frame_Shift_Del DEL ACTA - - TCGA-76-4926-01B-01D-1486-08 TCGA-76-4926-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 3c93cb58-d39b-4a5e-907a-8b5438630d21 ecbd11a3-9ac5-4888-9f28-f5a93f45fe50 g.chr6:82924063_82924066delACTA uc003pjl.1 - 12 2609_2612 c.2082_2085delTAGT c.(2080-2085)GTTAGTfs p.V694fs IBTK_uc011dyv.1_Frame_Shift_Del_p.V694fs|IBTK_uc011dyw.1_Intron|IBTK_uc010kbi.1_Frame_Shift_Del_p.V388fs|IBTK_uc003pjm.2_Frame_Shift_Del_p.V694fs NM_015525 NP_056340 Q9P2D0 IBTK_HUMAN inhibitor of Bruton's tyrosine kinase 694_695 negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol cytoplasm|membrane|nucleus protein kinase binding|protein tyrosine kinase inhibitor activity ovary(2)|central_nervous_system(2) 4 all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037) BRCA - Breast invasive adenocarcinoma(397;0.0901) TCTGCCTCTCACTAACTGTTTGAG 0.338 HDAC9 9734 broad.mit.edu 37 7 18624954 18624954 + Missense_Mutation SNP G A A TCGA-76-4926-01B-01D-1486-08 TCGA-76-4926-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 3c93cb58-d39b-4a5e-907a-8b5438630d21 ecbd11a3-9ac5-4888-9f28-f5a93f45fe50 g.chr7:18624954G>A uc003suh.2 + 2 114 c.73G>A c.(73-75)GAC>AAC p.D25N HDAC9_uc003sue.2_Missense_Mutation_p.D25N|HDAC9_uc011jyd.1_Missense_Mutation_p.D25N|HDAC9_uc003sui.2_Missense_Mutation_p.D25N|HDAC9_uc003suj.2_Missense_Mutation_p.D25N|HDAC9_uc011jya.1_Missense_Mutation_p.D66N|HDAC9_uc003sua.1_Missense_Mutation_p.D44N|HDAC9_uc011jyb.1_Missense_Mutation_p.D25N|HDAC9_uc003sud.1_Missense_Mutation_p.D25N|HDAC9_uc011jyc.1_Missense_Mutation_p.D25N|HDAC9_uc003suf.1_Missense_Mutation_p.D53N|HDAC9_uc010kud.1_Missense_Mutation_p.D25N|HDAC9_uc011jye.1_5'UTR|HDAC9_uc011jyf.1_5'UTR NM_058176 NP_478056 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 isoform 1 25 Interaction with CTBP1 (By similarity). B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity lung(2)|central_nervous_system(2)|kidney(1) 5 all_lung(11;0.187) Valproic Acid(DB00313) CTCACCTTTAGACCTAAGGAC 0.498 BMPER 168667 broad.mit.edu 37 7 34118619 34118619 + Missense_Mutation SNP G A A TCGA-76-4926-01B-01D-1486-08 TCGA-76-4926-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 3c93cb58-d39b-4a5e-907a-8b5438630d21 ecbd11a3-9ac5-4888-9f28-f5a93f45fe50 g.chr7:34118619G>A uc011kap.1 + 12 1343 c.1229G>A c.(1228-1230)CGC>CAC p.R410H NM_133468 NP_597725 Q8N8U9 BMPER_HUMAN BMP-binding endothelial regulator precursor 410 VWFD. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space ovary(2)|central_nervous_system(1) 3 AACGACGCCCGCCGGACACGC 0.622 EGFR 1956 broad.mit.edu 37 7 55220274 55220274 + Missense_Mutation SNP C T T TCGA-76-4926-01B-01D-1486-08 TCGA-76-4926-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 3c93cb58-d39b-4a5e-907a-8b5438630d21 ecbd11a3-9ac5-4888-9f28-f5a93f45fe50 g.chr7:55220274C>T uc003tqk.2 + 6 910 c.664C>T c.(664-666)CGC>TGC p.R222C EGFR_uc003tqh.2_Missense_Mutation_p.R222C|EGFR_uc003tqi.2_Missense_Mutation_p.R222C|EGFR_uc003tqj.2_Missense_Mutation_p.R222C|EGFR_uc010kzg.1_Missense_Mutation_p.R177C|EGFR_uc011kco.1_Missense_Mutation_p.R169C|EGFR_uc003tql.1_RNA NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 222 Approximate.|Extracellular (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.V30_R297>G(5)|p.R222C(2) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) GTGCTCCGGGCGCTGCCGTGG 0.597 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) NSUN5 55695 broad.mit.edu 37 7 72722785 72722785 + Missense_Mutation SNP C T T TCGA-76-4926-01B-01D-1486-08 TCGA-76-4926-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 3c93cb58-d39b-4a5e-907a-8b5438630d21 ecbd11a3-9ac5-4888-9f28-f5a93f45fe50 g.chr7:72722785C>T uc003txw.2 - 1 39 c.3G>A c.(1-3)ATG>ATA p.M1I FKBP6_uc003twz.2_Intron|NSUN5_uc003txv.2_Missense_Mutation_p.M1I|NSUN5_uc003txx.2_Missense_Mutation_p.M1I|NSUN5_uc011kev.1_Missense_Mutation_p.M1I NM_018044 NP_060514 Q96P11 NSUN5_HUMAN NOL1/NOP2/Sun domain family, member 5 isoform 2 1 methyltransferase activity 0 Lung NSC(55;0.163) CATACAGCCCCATGTTCCCGC 0.657 OR2A5 393046 broad.mit.edu 37 7 143748358 143748359 + Frame_Shift_Ins INS - A A TCGA-76-4926-01B-01D-1486-08 TCGA-76-4926-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 3c93cb58-d39b-4a5e-907a-8b5438630d21 ecbd11a3-9ac5-4888-9f28-f5a93f45fe50 g.chr7:143748358_143748359insA uc011ktw.1 + 1 864_865 c.864_865insA c.(862-867)TTGATCfs p.L288fs NM_012365 NP_036497 Q96R48 OR2A5_HUMAN olfactory receptor, family 2, subfamily A, 288_289 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3) 3 Melanoma(164;0.0783) TGAACCCCTTGATCTATAGCCT 0.525 NEFM 4741 broad.mit.edu 37 8 24775980 24775980 + Missense_Mutation SNP A G G rs145571992 TCGA-76-4926-01B-01D-1486-08 TCGA-76-4926-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 3c93cb58-d39b-4a5e-907a-8b5438630d21 ecbd11a3-9ac5-4888-9f28-f5a93f45fe50 g.chr8:24775980A>G uc003xed.3 + 3 2645 c.2612A>G c.(2611-2613)AAA>AGA p.K871R NEFM_uc011lac.1_Missense_Mutation_p.K653R|NEFM_uc010lue.2_Missense_Mutation_p.K495R NM_005382 NP_005373 P07197 NFM_HUMAN neurofilament, medium polypeptide 150kDa isoform 871 Tail. neurofilament protein binding|structural constituent of cytoskeleton breast(1) 1 Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) GGTGCTACCAAATACATCACT 0.428 RB1CC1 9821 broad.mit.edu 37 8 53570293 53570293 + Missense_Mutation SNP G A A TCGA-76-4926-01B-01D-1486-08 TCGA-76-4926-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 3c93cb58-d39b-4a5e-907a-8b5438630d21 ecbd11a3-9ac5-4888-9f28-f5a93f45fe50 g.chr8:53570293G>A uc003xre.3 - 15 2654 c.2096C>T c.(2095-2097)ACG>ATG p.T699M RB1CC1_uc003xrf.3_Missense_Mutation_p.T699M NM_014781 NP_055596 Q8TDY2 RBCC1_HUMAN Rb1-inducible coiled coil protein 1 isoform 1 699 autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex protein binding ovary(8)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1) 11 all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023) AAAATCAAACGTATGTGCATC 0.398 RIMS2 9699 broad.mit.edu 37 8 104898339 104898339 + Silent SNP C T T TCGA-76-4926-01B-01D-1486-08 TCGA-76-4926-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 3c93cb58-d39b-4a5e-907a-8b5438630d21 ecbd11a3-9ac5-4888-9f28-f5a93f45fe50 g.chr8:104898339C>T uc003yls.2 + 2 1087 c.846C>T c.(844-846)GGC>GGT p.G282G RIMS2_uc003ylp.2_Silent_p.G504G|RIMS2_uc003ylw.2_Silent_p.G312G|RIMS2_uc003ylq.2_Silent_p.G312G|RIMS2_uc003ylr.2_Silent_p.G312G NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 535 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) CAAAGAAAGGCGGTAAAATGC 0.433 HNSCC(12;0.0054) RIMS2 9699 broad.mit.edu 37 8 105257209 105257209 + Missense_Mutation SNP A T T TCGA-76-4926-01B-01D-1486-08 TCGA-76-4926-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 3c93cb58-d39b-4a5e-907a-8b5438630d21 ecbd11a3-9ac5-4888-9f28-f5a93f45fe50 g.chr8:105257209A>T uc003yls.2 + 24 3695 c.3454A>T c.(3454-3456)ATG>TTG p.M1152L RIMS2_uc003ylp.2_Missense_Mutation_p.M1134L|RIMS2_uc003ylw.2_Missense_Mutation_p.M1141L|RIMS2_uc003ylq.2_Missense_Mutation_p.M948L|RIMS2_uc003ylr.2_Missense_Mutation_p.M973L NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 1196 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) GGCCGTGGAAATGAGGAACTG 0.473 HNSCC(12;0.0054) TG 7038 broad.mit.edu 37 8 134107297 134107297 + Missense_Mutation SNP G A A rs139465983 byFrequency TCGA-76-4926-01B-01D-1486-08 TCGA-76-4926-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 3c93cb58-d39b-4a5e-907a-8b5438630d21 ecbd11a3-9ac5-4888-9f28-f5a93f45fe50 g.chr8:134107297G>A uc003ytw.2 + 42 7290 c.7249G>A c.(7249-7251)GCA>ACA p.A2417T TG_uc010mdw.2_Missense_Mutation_p.A1176T|TG_uc011ljb.1_Missense_Mutation_p.A786T|TG_uc011ljc.1_Missense_Mutation_p.A550T|SLA_uc003ytz.2_Intron|SLA_uc011lje.1_Intron|SLA_uc011ljf.1_Intron|SLA_uc011ljg.1_Intron|SLA_uc010mea.2_Intron NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor 2417 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1) 15 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) GGGAGGCTCCGCACTCTCCCC 0.587 CYP11B2 1585 broad.mit.edu 37 8 143999226 143999226 + Missense_Mutation SNP C T T TCGA-76-4926-01B-01D-1486-08 TCGA-76-4926-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 3c93cb58-d39b-4a5e-907a-8b5438630d21 ecbd11a3-9ac5-4888-9f28-f5a93f45fe50 g.chr8:143999226C>T uc003yxk.1 - 1 34 c.31G>A c.(31-33)GTG>ATG p.V11M NM_000498 NP_000489 P19099 C11B2_HUMAN cytochrome P450, family 11, subfamily B, 11 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity 0 all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Candesartan(DB00796)|Metyrapone(DB01011) GGCGCTGCCACGCACACCTCT 0.612 Familial_Hyperaldosteronism_type_I RECQL4 9401 broad.mit.edu 37 8 145737371 145737371 + Missense_Mutation SNP G A A TCGA-76-4926-01B-01D-1486-08 TCGA-76-4926-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 3c93cb58-d39b-4a5e-907a-8b5438630d21 ecbd11a3-9ac5-4888-9f28-f5a93f45fe50 g.chr8:145737371G>A uc003zdj.2 - 20 3348 c.3316C>T c.(3316-3318)CGC>TGC p.R1106C NM_004260 NP_004251 O94761 RECQ4_HUMAN RecQ protein-like 4 1106 DNA duplex unwinding|DNA recombination|DNA repair cytoplasm|nucleus ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding breast(2)|lung(1)|skin(1) 4 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) TCAAAGTAGCGGCCGAGCAGG 0.677 N|F|S osteosarcoma|skin basal and sqamous cell Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents RAPADILINO_syndrome|Rothmund-Thomson_syndrome|Baller-Gerold_syndrome BNC2 54796 broad.mit.edu 37 9 16435843 16435843 + Silent SNP G A A TCGA-76-4926-01B-01D-1486-08 TCGA-76-4926-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 3c93cb58-d39b-4a5e-907a-8b5438630d21 ecbd11a3-9ac5-4888-9f28-f5a93f45fe50 g.chr9:16435843G>A uc003zml.2 - 6 2489 c.2349C>T c.(2347-2349)TAC>TAT p.Y783Y BNC2_uc011lmw.1_Silent_p.Y688Y|BNC2_uc003zmm.2_Silent_p.Y741Y|BNC2_uc003zmq.1_Silent_p.Y797Y|BNC2_uc003zmr.1_Silent_p.Y820Y|BNC2_uc003zmp.1_Silent_p.Y811Y|BNC2_uc010mij.1_Silent_p.Y705Y|BNC2_uc011lmv.1_Silent_p.Y609Y|BNC2_uc003zmo.1_Silent_p.Y705Y|BNC2_uc003zmj.2_Silent_p.Y548Y|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Silent_p.Y548Y|BNC2_uc003zmn.1_Silent_p.Y548Y NM_017637 NP_060107 Q6ZN30 BNC2_HUMAN basonuclin 2 783 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding ovary(2)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(50;9.01e-08) AAAACATGTCGTAAGTGGGGT 0.493 PGM5 5239 broad.mit.edu 37 9 71098902 71098902 + Missense_Mutation SNP G A A TCGA-76-4926-01B-01D-1486-08 TCGA-76-4926-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 3c93cb58-d39b-4a5e-907a-8b5438630d21 ecbd11a3-9ac5-4888-9f28-f5a93f45fe50 g.chr9:71098902G>A uc004agr.2 + 9 1646 c.1417G>A c.(1417-1419)GTG>ATG p.V473M NM_021965 NP_068800 Q15124 PGM5_HUMAN phosphoglucomutase 5 473 cell adhesion|cellular calcium ion homeostasis|glucose metabolic process costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity ovary(1)|pancreas(1) 2 TGTCTACAGCGTGGCGAAGAC 0.502 NACC2 138151 broad.mit.edu 37 9 138903727 138903727 + Missense_Mutation SNP G A A TCGA-76-4926-01B-01D-1486-08 TCGA-76-4926-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 3c93cb58-d39b-4a5e-907a-8b5438630d21 ecbd11a3-9ac5-4888-9f28-f5a93f45fe50 g.chr9:138903727G>A uc004cgw.2 - 6 1555 c.1399C>T c.(1399-1401)CGC>TGC p.R467C NACC2_uc010nbh.2_Missense_Mutation_p.R106C|uc004cgv.3_5'Flank NM_144653 NP_653254 Q96BF6 NACC2_HUMAN BTB (POZ) domain containing 14A 467 negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization nuclear body 0 ATGACCGTGCGGTACATCTCC 0.697 CACNA1B 774 broad.mit.edu 37 9 141012523 141012523 + Nonsense_Mutation SNP C G G TCGA-76-4926-01B-01D-1486-08 TCGA-76-4926-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 3c93cb58-d39b-4a5e-907a-8b5438630d21 ecbd11a3-9ac5-4888-9f28-f5a93f45fe50 g.chr9:141012523C>G uc004cog.2 + 42 6048 c.5903C>G c.(5902-5904)TCA>TGA p.S1968* CACNA1B_uc004coi.2_Nonsense_Mutation_p.S1180* NM_000718 NP_000709 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, 1968 Cytoplasmic (Potential). membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity breast(3)|large_intestine(2)|ovary(1) 6 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) GTGGGGCGGTCAGGAGCACTG 0.637 MXRA5 25878 broad.mit.edu 37 X 3235282 3235282 + Missense_Mutation SNP C T T TCGA-76-4926-01B-01D-1486-08 TCGA-76-4926-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 3c93cb58-d39b-4a5e-907a-8b5438630d21 ecbd11a3-9ac5-4888-9f28-f5a93f45fe50 g.chrX:3235282C>T uc004crg.3 - 6 6597 c.6440G>A c.(6439-6441)CGC>CAC p.R2147H NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 2147 Ig-like C2-type 6. extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) GCCCGTGATGCGCGCGTTGGC 0.706 ATP11C 286410 broad.mit.edu 37 X 138908934 138908934 + Missense_Mutation SNP T C C TCGA-76-4926-01B-01D-1486-08 TCGA-76-4926-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 3c93cb58-d39b-4a5e-907a-8b5438630d21 ecbd11a3-9ac5-4888-9f28-f5a93f45fe50 g.chrX:138908934T>C uc004faz.2 - 2 184 c.85A>G c.(85-87)AAT>GAT p.N29D ATP11C_uc004fba.2_Missense_Mutation_p.N29D NM_173694 NP_775965 Q8NB49 AT11C_HUMAN ATPase, class VI, type 11C isoform a 29 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(5)|large_intestine(3) 8 Acute lymphoblastic leukemia(192;0.000127) ACTGGATGATTGCCAACAAAC 0.373