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 S100PBP 64766 broad.mit.edu 37 1 33291908 33291908 + Missense_Mutation SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr1:33291908G>A uc001bvz.2 + 3 485 c.208G>A c.(208-210)GAG>AAG p.E70K S100PBP_uc001bwa.1_Missense_Mutation_p.E70K|S100PBP_uc001bwb.1_Missense_Mutation_p.E70K|S100PBP_uc001bwc.2_Missense_Mutation_p.E70K|S100PBP_uc001bwd.2_RNA NM_022753 NP_073590 Q96BU1 S1PBP_HUMAN S100P binding protein isoform a 70 nucleus calcium-dependent protein binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) CCCATCATATGAGCAGTCTTC 0.453000 MAP7D1 55700 broad.mit.edu 37 1 36645160 36645160 + Splice_Site SNP T T C TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr1:36645160T>C uc001bzz.2 + 14 2446 c.2230_splice c.e14+2 p.E744_splice MAP7D1_uc001caa.2_Splice_Site_p.E711_splice|MAP7D1_uc001cab.2_Splice_Site_p.E706_splice|MAP7D1_uc001cac.2_Splice_Site_p.E443_splice|MAP7D1_uc001cad.2_Splice_Site_p.E280_splice NM_018067 NP_060537 Q3KQU3 MA7D1_HUMAN MAP7 domain containing 1 cytoplasm|spindle ovary(3)|breast(2) 5 Myeloproliferative disorder(586;0.0393) CCAGCCCAGGTAAAGccccca 0.388000 STK40 83931 broad.mit.edu 37 1 36807526 36807526 + Missense_Mutation SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr1:36807526G>A uc001cak.1 - 12 1545 c.1138C>T c.(1138-1140)CGT>TGT p.R380C STK40_uc001cal.1_Missense_Mutation_p.R385C|STK40_uc001cam.1_Missense_Mutation_p.R380C|STK40_uc009vva.1_3'UTR|STK40_uc001can.1_3'UTR NM_032017 NP_114406 Q8N2I9 STK40_HUMAN serine/threonine kinase 40 380 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity ovary(1) 1 Myeloproliferative disorder(586;0.0393) AGCTGCTGACGCATGTAGTTC 0.612000 GLIS1 148979 broad.mit.edu 37 1 54059815 54059815 + Missense_Mutation SNP C C T rs145199173 TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr1:54059815C>T uc001cvr.1 - 3 1328 c.761G>A c.(760-762)CGA>CAA p.R254Q NM_147193 NP_671726 Q8NBF1 GLIS1_HUMAN GLIS family zinc finger 1 254 C2H2-type 2; atypical. negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding skin(1) 1 CGAGTGCACTCGCATGTGGAT 0.652000 DIRAS3 9077 broad.mit.edu 37 1 68512693 68512693 + Silent SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr1:68512693G>A uc001ded.2 - 2 583 c.288C>T c.(286-288)GAC>GAT p.D96D uc001deb.1_Intron|uc001dec.1_Intron NM_004675 NP_004666 O95661 DIRA3_HUMAN DIRAS family, GTP-binding RAS-like 3 96 regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity skin(1) 1 CGCGGTTGCCGTCGCCACTCT 0.592000 ELTD1 64123 broad.mit.edu 37 1 79386012 79386012 + Silent SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr1:79386012C>T uc001diq.3 - 10 1473 c.1317G>A c.(1315-1317)CTG>CTA p.L439L NM_022159 NP_071442 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain 439 Helical; Name=1; (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(1)|skin(1) 2 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) CAAGACAAATCAGTGAAATAA 0.308000 VAV3 10451 broad.mit.edu 37 1 108152584 108152584 + Missense_Mutation SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr1:108152584G>A uc001dvk.1 - 22 2038 c.1984C>T c.(1984-1986)CCC>TCC p.P662S VAV3_uc010ouu.1_Missense_Mutation_p.P66S|VAV3_uc001dvj.1_Missense_Mutation_p.P102S|VAV3_uc010ouv.1_Missense_Mutation_p.P66S|VAV3_uc010ouw.1_Missense_Mutation_p.P662S NM_006113 NP_006104 Q9UKW4 VAV3_HUMAN vav 3 guanine nucleotide exchange factor isoform 662 angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity ovary(5)|lung(2)|breast(2) 9 all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594) Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204) ACTGGTTTGGGCACCTAGGAT 0.348000 TTF2 8458 broad.mit.edu 37 1 117618400 117618400 + Silent SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr1:117618400C>T uc001egy.2 + 5 1214 c.1194C>T c.(1192-1194)GCC>GCT p.A398A TTF2_uc001egx.1_Silent_p.A398A NM_003594 NP_003585 Q9UNY4 TTF2_HUMAN transcription termination factor, RNA polymerase 398 mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription cytoplasm|spliceosomal complex|transcription elongation factor complex ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding ovary(1) 1 Lung SC(450;0.225) all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19) TGTCTCCTGCCTCAGGTGTTT 0.493000 DENND4B 9909 broad.mit.edu 37 1 153914789 153914789 + Silent SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr1:153914789C>T uc001fdd.1 - 5 1085 c.684G>A c.(682-684)CCG>CCA p.P228P NM_014856 NP_055671 O75064 DEN4B_HUMAN DENN/MADD domain containing 4B 228 UDENN. ovary(1) 1 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) ACTCGGGCAGCGGGAACGCCT 0.637000 TIPRL 261726 broad.mit.edu 37 1 168169139 168169139 + Splice_Site SNP A A G TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr1:168169139A>G uc001gfg.2 + 7 821 c.676_splice c.e7-2 p.H226_splice TIPRL_uc001gfh.2_Splice_Site_p.T227_splice NM_152902 NP_690866 O75663 TIPRL_HUMAN TIP41, TOR signalling pathway regulator-like DNA damage checkpoint|negative regulation of protein phosphatase type 2A activity cytoplasm protein binding ovary(1) 1 all_hematologic(923;0.215) TGTATTTCCTAGCATGTTCCA 0.313000 RABGAP1L 9910 broad.mit.edu 37 1 174606593 174606593 + Silent SNP A A T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr1:174606593A>T uc001gjx.2 + 14 1986 c.1791A>T c.(1789-1791)GGA>GGT p.G597G NM_014857 NP_055672 Q5R372 RBG1L_HUMAN RAB GTPase activating protein 1-like isoform A 597 Rab-GAP TBC. regulation of protein localization early endosome|Golgi apparatus|nucleus Rab GTPase activator activity ovary(2)|lung(1)|kidney(1) 4 ATACTGGAGGAGATGGTCAAG 0.363000 CEP350 9857 broad.mit.edu 37 1 179989418 179989418 + Missense_Mutation SNP A A C TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr1:179989418A>C uc001gnt.2 + 12 2892 c.2509A>C c.(2509-2511)AGC>CGC p.S837R CEP350_uc009wxl.2_Missense_Mutation_p.S836R|CEP350_uc001gnu.2_Missense_Mutation_p.S671R NM_014810 NP_055625 Q5VT06 CE350_HUMAN centrosome-associated protein 350 837 centrosome|nucleus|spindle ovary(4) 4 TTCTTTGTCCAGCAGAATTGA 0.443000 ASPM 259266 broad.mit.edu 37 1 197112225 197112225 + Missense_Mutation SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr1:197112225G>A uc001gtu.2 - 3 1414 c.1157C>T c.(1156-1158)TCA>TTA p.S386L ASPM_uc001gtv.2_Missense_Mutation_p.S386L|ASPM_uc001gtw.3_Intron NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 386 mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 AGGATTAACTGACTCTGATTC 0.279000 WDR64 128025 broad.mit.edu 37 1 241959588 241959588 + Silent SNP T T A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr1:241959588T>A uc001hzf.1 + 16 1890 c.1737T>A c.(1735-1737)CTT>CTA p.L579L WDR64_uc001hzg.1_Silent_p.L492L NM_144625 NP_653226 B1ANS9 WDR64_HUMAN WD repeat domain 64 1026 skin(1) 1 Ovarian(103;0.103) all_cancers(173;0.0121) OV - Ovarian serous cystadenocarcinoma(106;0.0116) TAAGATTTCTTCCACTGATTG 0.398000 ITIH2 3698 broad.mit.edu 37 10 7759715 7759715 + Silent SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr10:7759715C>T uc001ijs.2 + 6 756 c.594C>T c.(592-594)ATC>ATT p.I198I NM_002216 NP_002207 P19823 ITIH2_HUMAN inter-alpha globulin inhibitor H2 polypeptide 198 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(1)|pancreas(1)|skin(1) 3 AGCACAGGATCTATCTGCAAC 0.507000 PGBD3 267004 broad.mit.edu 37 10 50732318 50732318 + Translation_Start_Site SNP G G A rs141391984 byFrequency TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr10:50732318G>A uc001jht.2 - 1 9 c.-246C>T c.(-248--244)GACGA>GATGA ERCC6_uc001jhs.3_Silent_p.D386D|PGBD3_uc009xoe.2_Silent_p.D386D|PGBD3_uc001jhu.2_Silent_p.D386D NM_170753 NP_736609 Q8N328 PGBD3_HUMAN hypothetical protein LOC267004 pancreas(1)|breast(1)|skin(1) 3 cctccacctcgtcatcttcct 0.423000 A1CF 29974 broad.mit.edu 37 10 52603780 52603780 + Missense_Mutation SNP A A C TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr10:52603780A>C uc001jjj.2 - 4 390 c.202T>G c.(202-204)TTT>GTT p.F68V A1CF_uc010qhn.1_Missense_Mutation_p.F76V|A1CF_uc001jji.2_Missense_Mutation_p.F68V|A1CF_uc001jjh.2_Missense_Mutation_p.F76V|A1CF_uc010qho.1_Missense_Mutation_p.F76V|A1CF_uc009xov.2_Missense_Mutation_p.F68V|A1CF_uc001jjk.1_Missense_Mutation_p.F68V NM_138932 NP_620310 Q9NQ94 A1CF_HUMAN apobec-1 complementation factor isoform 2 68 RRM 1. cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding central_nervous_system(1) 1 TCATCCTCAAAAAGGTCTCGG 0.393000 RUFY2 55680 broad.mit.edu 37 10 70143864 70143864 + Missense_Mutation SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr10:70143864G>A uc001job.2 - 9 1198 c.871C>T c.(871-873)CAT>TAT p.H291Y RUFY2_uc001jnz.1_RNA|RUFY2_uc001joc.2_Missense_Mutation_p.H222Y|RUFY2_uc010qiw.1_Missense_Mutation_p.H198Y|RUFY2_uc001jod.1_Missense_Mutation_p.H256Y|RUFY2_uc009xpv.1_Missense_Mutation_p.H139Y NM_017987 NP_060457 Q8WXA3 RUFY2_HUMAN RUN and FYVE domain-containing 2 isoform a 305 Potential. nucleus metal ion binding ovary(1) 1 CGTAATTGATGATTTTCTTCC 0.318000 BLNK 29760 broad.mit.edu 37 10 97983645 97983645 + Silent SNP C C T rs149698554 TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr10:97983645C>T uc001kls.3 - 6 640 c.462G>A c.(460-462)CCG>CCA p.P154P BLNK_uc001kme.3_Silent_p.P72P|BLNK_uc001klt.3_Silent_p.P68P|BLNK_uc009xvc.2_Intron|BLNK_uc001klu.3_Silent_p.P72P|BLNK_uc001klv.3_Intron|BLNK_uc001klw.3_RNA|BLNK_uc001klx.3_Silent_p.P154P|BLNK_uc001kly.3_Silent_p.P154P|BLNK_uc001klz.3_Intron|BLNK_uc001kma.3_Silent_p.P154P|BLNK_uc001kmb.3_Intron|BLNK_uc001kmc.3_RNA|BLNK_uc001kmd.3_Silent_p.P72P|BLNK_uc009xvd.2_Intron NM_013314 NP_037446 Q8WV28 BLNK_HUMAN B-cell linker isoform 1 154 Pro-rich. B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction cytoplasm|plasma membrane SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity skin(2) 2 Colorectal(252;0.083) Epithelial(162;7.89e-08)|all cancers(201;2.27e-06) CAGTCAGGGCCGGCAGGGTGG 0.547000 HPS1 3257 broad.mit.edu 37 10 100183378 100183378 + Missense_Mutation SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr10:100183378C>T uc010qpf.1 - 16 1826 c.1580G>A c.(1579-1581)AGG>AAG p.R527K HPS1_uc001kpi.1_Missense_Mutation_p.R527K|HPS1_uc001kpj.1_Missense_Mutation_p.R434K|HPS1_uc001kpk.1_Missense_Mutation_p.R351K|HPS1_uc010qpg.1_Missense_Mutation_p.R147K|HPS1_uc009xwb.2_RNA NM_000195 NP_000186 Q92902 HPS1_HUMAN Hermansky-Pudlak syndrome 1 protein isoform a 527 lysosome organization|response to stimulus|visual perception cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction protein dimerization activity skin(1) 1 Colorectal(252;0.234) Epithelial(162;3.87e-12)|all cancers(201;5.63e-10) GGTGATGTTCCTCCTGCTCTT 0.617000 Hermansky-Pudlak_syndrome ABLIM1 3983 broad.mit.edu 37 10 116361626 116361626 + Silent SNP G G C TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr10:116361626G>C uc010qsg.1 - 2 438 c.339C>G c.(337-339)GTC>GTG p.V113V ABLIM1_uc010qsh.1_Silent_p.V53V|ABLIM1_uc010qsi.1_Silent_p.V53V|ABLIM1_uc010qsk.1_Silent_p.V37V|ABLIM1_uc009xyp.2_Silent_p.V47V|ABLIM1_uc001lbz.1_Silent_p.V36V NM_002313 NP_002304 O14639 ABLM1_HUMAN actin-binding LIM protein 1 isoform a 113 LIM zinc-binding 1. axon guidance|cytoskeleton organization|organ morphogenesis|visual perception actin cytoskeleton|cytoplasm actin binding|zinc ion binding breast(1) 1 Colorectal(252;0.0373)|Breast(234;0.231) Epithelial(162;0.0132)|all cancers(201;0.0383) GTTTGGTCTGGACCCGAAGCA 0.557000 KNDC1 85442 broad.mit.edu 37 10 135015105 135015105 + Silent SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr10:135015105C>T uc001llz.1 + 17 3091 c.3090C>T c.(3088-3090)TTC>TTT p.F1030F KNDC1_uc001lma.1_Silent_p.F965F|KNDC1_uc001lmb.1_Silent_p.F442F NM_152643 NP_689856 Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) 1030 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) GGGGAAACTTCGAGGTGGGGT 0.657000 ART1 417 broad.mit.edu 37 11 3681342 3681342 + Missense_Mutation SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr11:3681342G>A uc001lye.1 + 3 694 c.593G>A c.(592-594)GGG>GAG p.G198E ART1_uc009yeb.1_Missense_Mutation_p.G198E NM_004314 NP_004305 P52961 NAR1_HUMAN ADP-ribosyltransferase 1 precursor 198 protein ADP-ribosylation anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity 0 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195) Becaplermin(DB00102) GTGAGGCTGGGGGGCTTTGCT 0.682000 OR51M1 390059 broad.mit.edu 37 11 5410661 5410661 + Silent SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr11:5410661C>T uc010qzc.1 + 1 33 c.33C>T c.(31-33)TTC>TTT p.F11F HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001004756 NP_001004756 B2RNI9 B2RNI9_HUMAN olfactory receptor, family 51, subfamily M, 11 integral to membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GTCCTCAATTCATGCTGCTAT 0.398000 MICAL2 9645 broad.mit.edu 37 11 12241844 12241844 + Missense_Mutation SNP T T A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr11:12241844T>A uc001mjz.2 + 9 1333 c.1045T>A c.(1045-1047)TAC>AAC p.Y349N MICAL2_uc010rch.1_Missense_Mutation_p.Y349N|MICAL2_uc001mka.2_Missense_Mutation_p.Y349N|MICAL2_uc010rci.1_Missense_Mutation_p.Y349N|MICAL2_uc001mkb.2_Missense_Mutation_p.Y349N|MICAL2_uc001mkc.2_Missense_Mutation_p.Y349N|MICAL2_uc001mkd.2_Missense_Mutation_p.Y178N|MICAL2_uc010rcj.1_5'Flank NM_014632 NP_055447 O94851 MICA2_HUMAN microtubule associated monoxygenase, calponin 349 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding upper_aerodigestive_tract(2) 2 Epithelial(150;0.00552) TGCCACCAACTACCAGCTGCC 0.537000 SPTY2D1 144108 broad.mit.edu 37 11 18636652 18636652 + Missense_Mutation SNP G G T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr11:18636652G>T uc001moy.2 - 3 1385 c.1169C>A c.(1168-1170)ACA>AAA p.T390K SPTY2D1_uc010rdi.1_Missense_Mutation_p.T390K NM_194285 NP_919261 Q68D10 SPT2_HUMAN SPT2, Suppressor of Ty, domain containing 1 390 Ser-rich. breast(1) 1 AGAACTAACTGTGGGTCGAGC 0.587000 LIN7C 55327 broad.mit.edu 37 11 27520261 27520261 + Missense_Mutation SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr11:27520261C>T uc001mrl.2 - 5 556 c.529G>A c.(529-531)GTC>ATC p.V177I LIN7C_uc009yii.2_Missense_Mutation_p.V153I NM_018362 NP_060832 Q9NUP9 LIN7C_HUMAN lin-7 homolog C 177 exocytosis|protein transport basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction 0 TCTTCTAAGACTTTGGGTGTG 0.388000 KIF18A 81930 broad.mit.edu 37 11 28090850 28090850 + Missense_Mutation SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr11:28090850C>T uc001msc.2 - 11 1728 c.1546G>A c.(1546-1548)GAA>AAA p.E516K NM_031217 NP_112494 Q8NI77 KI18A_HUMAN kinesin family member 18A 516 blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding ovary(2) 2 ATTTCTTTTTCGACACGATGG 0.388000 DDB1 1642 broad.mit.edu 37 11 61071504 61071504 + Missense_Mutation SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr11:61071504G>A uc001nrc.3 - 22 2891 c.2665C>T c.(2665-2667)CGG>TGG p.R889W DDB1_uc010rle.1_Missense_Mutation_p.R200W|DDB1_uc010rlf.1_Missense_Mutation_p.R889W NM_001923 NP_001914 Q16531 DDB1_HUMAN damage-specific DNA binding protein 1 889 Interaction with CDT1 and CUL4A. cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm damaged DNA binding|protein binding ovary(2)|lung(1)|central_nervous_system(1) 4 TCATAGAGCCGCACCTGGGAA 0.547000 NER CST6 1474 broad.mit.edu 37 11 65780867 65780867 + Missense_Mutation SNP T T A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr11:65780867T>A uc001ogr.2 + 3 500 c.446T>A c.(445-447)ATG>AAG p.M149K CST6_uc001ogs.1_3'UTR NM_001323 NP_001314 Q15828 CYTM_HUMAN cystatin M precursor 149 anatomical structure morphogenesis extracellular region cysteine-type endopeptidase inhibitor activity ovary(1) 1 TGTGTGCAGATGTGATAAGTC 0.562000 CPT1A 1374 broad.mit.edu 37 11 68566686 68566686 + Silent SNP G G A rs146551320 TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr11:68566686G>A uc001oog.3 - 6 863 c.693C>T c.(691-693)TAC>TAT p.Y231Y CPT1A_uc001oof.3_Silent_p.Y231Y|CPT1A_uc009ysj.2_Silent_p.Y231Y NM_001876 NP_001867 P50416 CPT1A_HUMAN carnitine palmitoyltransferase 1A liver isoform 231 Cytoplasmic (Potential). carnitine shuttle|fatty acid beta-oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity skin(2) 2 Esophageal squamous(3;3.28e-14) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142) L-Carnitine(DB00583)|Perhexiline(DB01074) ACAGACTTACGTAATTTGTAG 0.398000 INTS4 92105 broad.mit.edu 37 11 77635908 77635908 + Missense_Mutation SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr11:77635908G>A uc001oys.2 - 12 1430 c.1402C>T c.(1402-1404)CAT>TAT p.H468Y INTS4_uc001oyt.2_RNA|INTS4_uc001oyu.1_Missense_Mutation_p.H468Y NM_033547 NP_291025 Q96HW7 INT4_HUMAN integrator complex subunit 4 468 HEAT 8. snRNA processing integrator complex protein binding ovary(2) 2 all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152) Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23) AAGAGTTCATGAAGAGCCTCT 0.383000 DDI1 414301 broad.mit.edu 37 11 103907617 103907617 + Missense_Mutation SNP C C A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr11:103907617C>A uc001phr.2 + 1 310 c.67C>A c.(67-69)CCC>ACC p.P23T PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron NM_001001711 NP_001001711 Q8WTU0 DDI1_HUMAN DDI1, DNA-damage inducible 1, homolog 1 23 Ubiquitin-like. proteolysis aspartic-type endopeptidase activity large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1) 5 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164) BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169) CCAGGTCAGCCCCGACTTTGA 0.512000 LAYN 143903 broad.mit.edu 37 11 111414845 111414845 + Missense_Mutation SNP G G T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr11:111414845G>T uc001plr.1 + 3 643 c.307G>T c.(307-309)GAC>TAC p.D103Y LAYN_uc001plp.1_Missense_Mutation_p.D95Y|LAYN_uc001plq.1_Missense_Mutation_p.D103Y|LAYN_uc001pls.1_Missense_Mutation_p.D95Y|LAYN_uc010rwg.1_Silent_p.V2V|LAYN_uc010rwh.1_5'UTR NM_178834 NP_849156 Q6UX15 LAYN_HUMAN layilin 103 C-type lectin.|Extracellular (Potential). cell surface|integral to membrane|ruffle hyaluronic acid binding|sugar binding 0 all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086) Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476) ATCTGATGGTGACTTCTGGAT 0.483000 SLCO1C1 53919 broad.mit.edu 37 12 20903643 20903643 + Missense_Mutation SNP G G C TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr12:20903643G>C uc001rej.3 + 15 2188 c.1833G>C c.(1831-1833)TTG>TTC p.L611F SLCO1C1_uc010sii.1_Missense_Mutation_p.L611F|SLCO1C1_uc010sij.1_Missense_Mutation_p.L562F|SLCO1C1_uc009zip.2_Missense_Mutation_p.L445F|SLCO1C1_uc001rei.2_Missense_Mutation_p.L611F|SLCO1C1_uc010sik.1_Missense_Mutation_p.L493F NM_017435 NP_059131 Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, 611 Helical; Name=11; (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) TTGGAGTTTTGATTGATACTT 0.343000 ALG10B 144245 broad.mit.edu 37 12 38714150 38714150 + Missense_Mutation SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr12:38714150G>A uc001rln.3 + 3 696 c.557G>A c.(556-558)CGG>CAG p.R186Q ALG10B_uc001rlo.3_Missense_Mutation_p.R156Q|ALG10B_uc010skk.1_Missense_Mutation_p.R126Q NM_001013620 NP_001013642 Q5I7T1 AG10B_HUMAN asparagine-linked glycosylation 10 homolog B 186 Helical; (Potential). dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane|plasma membrane dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity ovary(2)|skin(1) 3 Esophageal squamous(101;0.187) Lung NSC(34;0.204)|all_lung(34;0.235) TTCATGTTTCGGCAAACAAAT 0.383000 DNAJC22 79962 broad.mit.edu 37 12 49743129 49743129 + Silent SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr12:49743129C>T uc001rua.2 + 2 875 c.474C>T c.(472-474)GCC>GCT p.A158A DNAJC22_uc001rub.2_Silent_p.A158A NM_024902 NP_079178 Q8N4W6 DJC22_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 22 158 Helical; (Potential). protein folding integral to membrane heat shock protein binding|unfolded protein binding ovary(1) 1 TTAGCGTGGCCGCCAGCATTA 0.547000 B4GALNT1 2583 broad.mit.edu 37 12 58024855 58024855 + Missense_Mutation SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr12:58024855G>A uc001spg.1 - 4 830 c.398C>T c.(397-399)GCT>GTT p.A133V B4GALNT1_uc010sru.1_Missense_Mutation_p.A78V|B4GALNT1_uc010srv.1_Missense_Mutation_p.A133V|B4GALNT1_uc001sph.2_Missense_Mutation_p.A133V|B4GALNT1_uc001spi.2_Missense_Mutation_p.A133V NM_001478 NP_001469 Q00973 B4GN1_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 1 133 Lumenal (Potential). lipid glycosylation integral to Golgi membrane|membrane fraction (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity 0 Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.109) CAGCTGGTCAGCTGGGGACTG 0.642000 TRHDE 29953 broad.mit.edu 37 12 73056851 73056851 + Missense_Mutation SNP A A T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr12:73056851A>T uc001sxa.2 + 19 2981 c.2951A>T c.(2950-2952)AAC>ATC p.N984I NM_013381 NP_037513 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 984 Extracellular (Potential). cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding ovary(2)|skin(1) 3 TTCATGAAAAACTATGATGGG 0.398000 SELPLG 6404 broad.mit.edu 37 12 109017971 109017971 + Missense_Mutation SNP C C T rs149021318 byFrequency TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr12:109017971C>T uc001tni.2 - 2 273 c.113G>A c.(112-114)CGG>CAG p.R38Q SELPLG_uc001tnh.2_Missense_Mutation_p.R38Q|SELPLG_uc010sxe.1_Missense_Mutation_p.R54Q NM_003006 NP_002997 Q14242 SELPL_HUMAN selectin P ligand 38 Extracellular (Potential). Missing (in Ref. 3; BAC05283). blood coagulation|cellular response to interleukin-6 integral to plasma membrane|membrane fraction bacterial cell surface binding|receptor binding 0 TCTCCGGTCCCGGGCAAGCAG 0.572000 WDR66 144406 broad.mit.edu 37 12 122398586 122398586 + Missense_Mutation SNP C C G TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr12:122398586C>G uc009zxk.2 + 14 2371 c.2229C>G c.(2227-2229)AGC>AGG p.S743R NM_144668 NP_653269 Q8TBY9 WDR66_HUMAN WD repeat domain 66 743 calcium ion binding ovary(1)|skin(1) 2 all_neural(191;0.0496)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248) ATCGCAAAAGCATTCGAAGTC 0.483000 CLIP1 6249 broad.mit.edu 37 12 122845543 122845543 + Missense_Mutation SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr12:122845543G>A uc001ucg.1 - 4 1074 c.968C>T c.(967-969)GCC>GTC p.A323V CLIP1_uc001uch.1_Missense_Mutation_p.A323V|CLIP1_uc001uci.1_Missense_Mutation_p.A323V|CLIP1_uc001ucj.1_Missense_Mutation_p.A24V|CLIP1_uc010tae.1_Missense_Mutation_p.A323V NM_002956 NP_002947 P30622 CLIP1_HUMAN restin isoform a 323 Ser-rich. mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding ovary(2)|breast(1) 3 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) CACAGAGGAGGCCACTGAGCT 0.617000 EP400 57634 broad.mit.edu 37 12 132514347 132514347 + Missense_Mutation SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr12:132514347G>A uc001ujn.2 + 27 5518 c.5483G>A c.(5482-5484)GGC>GAC p.G1828D EP400_uc001ujl.2_Missense_Mutation_p.G1827D|EP400_uc001ujm.2_Missense_Mutation_p.G1747D|SNORA49_uc001ujo.2_5'Flank NM_015409 NP_056224 Q96L91 EP400_HUMAN E1A binding protein p400 1864 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) TTGAGGCAGGGCCTGAGAGAG 0.657000 FREM2 341640 broad.mit.edu 37 13 39266549 39266549 + Missense_Mutation SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr13:39266549G>A uc001uwv.2 + 1 5377 c.5068G>A c.(5068-5070)GAC>AAC p.D1690N NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN FRAS1-related extracellular matrix protein 2 1690 Extracellular (Potential).|CSPG 12. cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 11 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) GGAGGACAGAGACAGCTTACA 0.473000 THSD1 55901 broad.mit.edu 37 13 52952350 52952350 + Missense_Mutation SNP G G C TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr13:52952350G>C uc001vgo.2 - 5 2300 c.1755C>G c.(1753-1755)TTC>TTG p.F585L THSD1_uc001vgp.2_Missense_Mutation_p.F532L|THSD1_uc010tgz.1_Missense_Mutation_p.F206L|THSD1_uc010aea.2_Missense_Mutation_p.F46L NM_018676 NP_061146 Q9NS62 THSD1_HUMAN thrombospondin type I domain-containing 1 585 Cytoplasmic (Potential). extracellular region|integral to membrane|intracellular membrane-bounded organelle ovary(2)|upper_aerodigestive_tract(1)|skin(1) 4 Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.8e-08) ATTTGATCCGGAACTTGTTTG 0.572000 DIAPH3 81624 broad.mit.edu 37 13 60240797 60240797 + Missense_Mutation SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr13:60240797G>A uc001vht.2 - 28 3722 c.3503C>T c.(3502-3504)ACG>ATG p.T1168M DIAPH3_uc001vhs.2_RNA NM_001042517 NP_001035982 Q9NSV4 DIAP3_HUMAN diaphanous homolog 3 isoform a 1168 actin cytoskeleton organization actin binding|Rho GTPase binding ovary(2) 2 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;2.77e-05) AAGAAGTTCCGTTTCCTTTTT 0.383000 EDNRB 1910 broad.mit.edu 37 13 78492651 78492651 + Missense_Mutation SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr13:78492651C>T uc001vko.2 - 1 316 c.58G>A c.(58-60)GGC>AGC p.G20S uc001vks.2_5'Flank|EDNRB_uc001vkq.1_Missense_Mutation_p.G20S|EDNRB_uc010aez.1_Missense_Mutation_p.G20S|EDNRB_uc001vkp.1_Missense_Mutation_p.G103S|EDNRB_uc010afa.1_Missense_Mutation_p.G20S NM_001122659 NP_001116131 P24530 EDNRB_HUMAN endothelin receptor type B isoform 1 precursor 20 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction integral to plasma membrane endothelin-B receptor activity|peptide hormone binding 0 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0933) Bosentan(DB00559) CGCGACAGGCCGCAGGCAAGA 0.642000 OREG0022452 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) OR4N2 390429 broad.mit.edu 37 14 20295827 20295827 + Missense_Mutation SNP T T G TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr14:20295827T>G uc010tkv.1 + 1 220 c.220T>G c.(220-222)TCC>GCC p.S74A NM_001004723 NP_001004723 Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, 74 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1)|skin(1) 4 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TGCATCCTACTCCTTCATTGT 0.483000 LRFN5 145581 broad.mit.edu 37 14 42356201 42356201 + Missense_Mutation SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr14:42356201C>T uc001wvm.2 + 3 1571 c.373C>T c.(373-375)CTT>TTT p.L125F LRFN5_uc010ana.2_Missense_Mutation_p.L125F NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III 125 Extracellular (Potential).|LRR 4. integral to membrane ovary(5)|pancreas(2)|central_nervous_system(1) 8 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) TCTTTCCAATCTTCATCATTT 0.383000 HNSCC(30;0.082) COQ6 51004 broad.mit.edu 37 14 74428508 74428508 + Missense_Mutation SNP A A G rs150656371 TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr14:74428508A>G uc001xph.2 + 11 1359 c.1279A>G c.(1279-1281)ACA>GCA p.T427A ENTPD5_uc001xpi.2_Intron|COQ6_uc001xpe.2_Missense_Mutation_p.T352A|COQ6_uc001xpf.2_Missense_Mutation_p.T352A|COQ6_uc010tuk.1_Missense_Mutation_p.T402A|COQ6_uc001xpg.2_Intron NM_182476 NP_872282 Q9Y2Z9 COQ6_HUMAN coenzyme Q6 homolog isoform a 427 ubiquinone biosynthetic process mitochondrion flavin adenine dinucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen 0 BRCA - Breast invasive adenocarcinoma(234;0.00337) TCTGGCTGCTACAGACTTACT 0.498000 TRIP11 9321 broad.mit.edu 37 14 92469890 92469890 + Missense_Mutation SNP G G C TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr14:92469890G>C uc001xzy.2 - 11 5218 c.4430C>G c.(4429-4431)ACA>AGA p.T1477R TRIP11_uc010auf.1_Missense_Mutation_p.T1213R NM_004239 NP_004230 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 1477 Potential. transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1) 13 COAD - Colon adenocarcinoma(157;0.223) TTGATATTCTGTTTCCTTTCC 0.368000 T PDGFRB AML SERPINA1 5265 broad.mit.edu 37 14 94847294 94847294 + Silent SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr14:94847294G>A uc001ycx.3 - 3 1092 c.831C>T c.(829-831)TTC>TTT p.F277F SERPINA1_uc001ycw.3_RNA|SERPINA1_uc010auw.2_Silent_p.F277F|SERPINA1_uc010aux.2_Silent_p.F277F|SERPINA1_uc001ycy.3_Silent_p.F277F|SERPINA1_uc010auy.2_Silent_p.F277F|SERPINA1_uc001ycz.3_Silent_p.F277F|SERPINA1_uc010auz.2_Silent_p.F277F|SERPINA1_uc010ava.2_Silent_p.F277F|SERPINA1_uc001ydb.3_Silent_p.F277F|SERPINA1_uc010avb.2_Silent_p.F277F|SERPINA1_uc001ydc.3_Silent_p.F277F|SERPINA1_uc001yda.1_Silent_p.F277F NM_000295 NP_000286 P01009 A1AT_HUMAN serine proteinase inhibitor, clade A, member 1 277 acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix protease binding|serine-type endopeptidase inhibitor activity skin(1) 1 all_cancers(154;0.0649)|all_epithelial(191;0.223) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) Alpha-1-proteinase inhibitor(DB00058) CATCAGGCAGGAAGAAGATGG 0.488000 Alpha-1-Antitrypsin_Deficiency RTL1 388015 broad.mit.edu 37 14 101349151 101349151 + Missense_Mutation SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr14:101349151C>T uc010txj.1 - 1 2034 c.1975G>A c.(1975-1977)GGA>AGA p.G659R uc001yig.3_5'Flank|MIR127_hsa-mir-127|MI0000472_5'Flank|MIR432_hsa-mir-432|MI0003133_5'Flank|uc010txk.1_5'Flank|MIR136_hsa-mir-136|MI0000475_5'Flank NM_001134888 NP_001128360 A6NKG5 RTL1_HUMAN retrotransposon-like 1 659 pancreas(1) 1 CACTCGGCTCCGTGTAACTGG 0.532000 CCPG1 9236 broad.mit.edu 37 15 55651934 55651934 + Silent SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr15:55651934C>T uc002acv.1 - 8 2202 c.2037G>A c.(2035-2037)CAG>CAA p.Q679Q CCPG1_uc002acy.2_Silent_p.Q679Q|CCPG1_uc002acu.1_Silent_p.Q535Q|CCPG1_uc002acw.1_Silent_p.Q404Q|CCPG1_uc002acx.2_Intron|CCPG1_uc010bfk.1_Silent_p.Q679Q|CCPG1_uc002acz.1_Silent_p.Q679Q NM_020739 NP_065790 Q9ULG6 CCPG1_HUMAN cell cycle progression 1 isoform 2 679 Lumenal (Potential). cell cycle integral to membrane ovary(1) 1 all cancers(107;0.0354) TATTGATGAACTGATCAAGTT 0.333000 GTF3C1 2975 broad.mit.edu 37 16 27480772 27480772 + Silent SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr16:27480772C>T uc002dov.1 - 32 4954 c.4914G>A c.(4912-4914)GCG>GCA p.A1638A GTF3C1_uc002dou.2_Silent_p.A1638A NM_001520 NP_001511 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1638 transcription factor TFIIIC complex DNA binding|protein binding ovary(2)|pancreas(1)|breast(1)|skin(1) 5 GGGAGGCTTGCGCAGGTTTCA 0.602000 SLC9A5 6553 broad.mit.edu 37 16 67293838 67293838 + Missense_Mutation SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr16:67293838C>T uc002esm.2 + 12 1894 c.1831C>T c.(1831-1833)CCG>TCG p.P611S SLC9A5_uc010cee.2_Missense_Mutation_p.P316S|SLC9A5_uc010vji.1_Missense_Mutation_p.P115S|uc002esn.1_5'Flank NM_004594 NP_004585 Q14940 SL9A5_HUMAN solute carrier family 9 (sodium/hydrogen 611 regulation of pH integral to membrane|plasma membrane sodium:hydrogen antiporter activity ovary(1)|pancreas(1) 2 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116) CCTCTACAAGCCGCGCCGTAG 0.597000 NQO1 1728 broad.mit.edu 37 16 69745175 69745175 + Missense_Mutation SNP G G C TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr16:69745175G>C uc002exp.2 - 6 720 c.529C>G c.(529-531)CTG>GTG p.L177V NQO1_uc010cfm.2_Missense_Mutation_p.L156V|NQO1_uc002exq.2_Missense_Mutation_p.L143V|NQO1_uc002exr.2_Missense_Mutation_p.L139V|NQO1_uc010vll.1_Missense_Mutation_p.L105V NM_000903 NP_000894 P15559 NQO1_HUMAN NAD(P)H menadione oxidoreductase 1, 177 nitric oxide biosynthetic process|regulation of cellular amino acid metabolic process|response to toxin|synaptic transmission, cholinergic|xenobiotic metabolic process cytosol coenzyme binding|cytochrome-b5 reductase activity|electron carrier activity|NAD(P)H dehydrogenase (quinone) activity 0 Dicumarol(DB00266)|Menadione(DB00170) CAGAAATGCAGAATGCCACTC 0.453000 COG4 25839 broad.mit.edu 37 16 70515668 70515668 + Missense_Mutation SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr16:70515668C>T uc002ezc.2 - 17 2116 c.2105G>A c.(2104-2106)CGG>CAG p.R702Q COG4_uc002eza.2_Missense_Mutation_p.R39Q|COG4_uc002ezb.2_Missense_Mutation_p.R158Q|COG4_uc010cfu.2_RNA|COG4_uc002ezd.2_Missense_Mutation_p.R681Q|COG4_uc002eze.2_Missense_Mutation_p.R396Q NM_015386 NP_056201 Q9H9E3 COG4_HUMAN component of oligomeric golgi complex 4 698 D domain. Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|Golgi transport complex protein binding 0 Ovarian(137;0.0694) TTACCTTACCCGGTTAAAGGT 0.572000 ANKRD11 29123 broad.mit.edu 37 16 89350371 89350371 + Missense_Mutation SNP G G A rs145730800 TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr16:89350371G>A uc002fmx.1 - 9 3040 c.2579C>T c.(2578-2580)TCG>TTG p.S860L ANKRD11_uc002fmy.1_Missense_Mutation_p.S860L|ANKRD11_uc002fnc.1_Missense_Mutation_p.S860L|ANKRD11_uc002fnb.1_Missense_Mutation_p.S817L NM_013275 NP_037407 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 860 Lys-rich. nucleus ovary(4)|large_intestine(1)|central_nervous_system(1) 6 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) TGTCACTGGCGAGTCCCAGCT 0.537000 RPA1 6117 broad.mit.edu 37 17 1782886 1782886 + Missense_Mutation SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr17:1782886G>A uc002fto.2 + 11 1100 c.985G>A c.(985-987)GCC>ACC p.A329T NM_002945 NP_002936 P27694 RFA1_HUMAN replication protein A1 329 cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body metal ion binding|protein binding|single-stranded DNA binding 0 CTATGAAGACGCCACTAAAAT 0.488000 NER NUP88 4927 broad.mit.edu 37 17 5312217 5312217 + Silent SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr17:5312217G>A uc002gbo.1 - 5 719 c.693C>T c.(691-693)ACC>ACT p.T231T NUP88_uc010vsx.1_Silent_p.T231T|NUP88_uc010cle.1_Silent_p.T230T|NUP88_uc010vsy.1_Silent_p.T231T NM_002532 NP_002523 Q99567 NUP88_HUMAN nucleoporin 88kDa 231 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore transporter activity kidney(1) 1 CTAGAGATGCGGTATACGCCC 0.323000 TP53 7157 broad.mit.edu 37 17 7578526 7578526 + Missense_Mutation SNP C C A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr17:7578526C>A uc002gim.2 - 5 598 c.404G>T c.(403-405)TGC>TTC p.C135F TP53_uc002gig.1_Missense_Mutation_p.C135F|TP53_uc002gih.2_Missense_Mutation_p.C135F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C3F|TP53_uc010cng.1_Missense_Mutation_p.C3F|TP53_uc002gii.1_Missense_Mutation_p.C3F|TP53_uc010cnh.1_Missense_Mutation_p.C135F|TP53_uc010cni.1_Missense_Mutation_p.C135F|TP53_uc002gij.2_Missense_Mutation_p.C135F|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.C42F|TP53_uc002gio.2_Missense_Mutation_p.C3F|TP53_uc010vug.1_Missense_Mutation_p.C96F NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 135 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). C -> S (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation; decreased E6-mediated binding to E6-AP).|C -> T (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> F (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.C135Y(51)|p.C135F(34)|p.C135W(19)|p.C135S(10)|p.C135fs*35(9)|p.0?(7)|p.C135*(7)|p.C135G(6)|p.C135R(6)|p.C135C(5)|p.C135fs*14(2)|p.N131fs*27(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.C135T(1)|p.V73fs*9(1)|p.C135fs*36(1)|p.C135fs*15(1)|p.Y126fs*11(1)|p.C135_A138delCQLA(1)|p.C42Y(1)|p.C3Y(1)|p.M133fs*13(1)|p.C135_T140delCQLAKT(1)|p.Q136fs*13(1)|p.C135_Q136insXXXXXX(1)|p.C135_Q136insX(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) GGCCAGTTGGCAAAACATCTT 0.572000 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) KDM6B 23135 broad.mit.edu 37 17 7748912 7748912 + Missense_Mutation SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr17:7748912C>T uc002giw.1 + 4 416 c.40C>T c.(40-42)CGG>TGG p.R14W KDM6B_uc002gix.2_5'Flank NM_001080424 NP_001073893 O15054 KDM6B_HUMAN lysine (K)-specific demethylase 6B 14 inflammatory response nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen central_nervous_system(1)|pancreas(1) 2 CCGCGCTGCACGGGAAGCCTT 0.642000 MMP28 79148 broad.mit.edu 37 17 34093640 34093640 + Missense_Mutation SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr17:34093640C>T uc002hjy.1 - 10 1701 c.1442G>A c.(1441-1443)CGA>CAA p.R481Q MMP28_uc002hjw.1_RNA|MMP28_uc002hjz.1_RNA NM_024302 NP_077278 Q9H239 MMP28_HUMAN matrix metalloproteinase 28 isoform 1 481 Hemopexin-like 4. proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding skin(1) 1 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) GCGGTCATCTCGGAAGAAGAT 0.672000 CCL5 6352 broad.mit.edu 37 17 34199417 34199417 + Missense_Mutation SNP C C G TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr17:34199417C>G uc002hkf.2 - 3 308 c.240G>C c.(238-240)TGG>TGC p.W80C NM_002985 NP_002976 P13501 CCL5_HUMAN small inducible cytokine A5 precursor 80 activation of phospholipase D activity|cell-cell signaling|cellular protein complex assembly|chemokine-mediated signaling pathway|dendritic cell chemotaxis|eosinophil chemotaxis|immune response|leukocyte cell-cell adhesion|macrophage chemotaxis|negative regulation of T cell apoptosis|negative regulation of viral genome replication|neutrophil activation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell-cell adhesion mediated by integrin|positive regulation of homotypic cell-cell adhesion|positive regulation of innate immune response|positive regulation of macrophage chemotaxis|positive regulation of monocyte chemotaxis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of T cell apoptosis|positive regulation of T cell chemotaxis|positive regulation of T cell proliferation|positive regulation of translational initiation|positive regulation of tyrosine phosphorylation of STAT protein|positive regulation of viral genome replication|protein tetramerization|regulation of chronic inflammatory response|response to virus extracellular space CCR1 chemokine receptor binding|CCR4 chemokine receptor binding|CCR5 chemokine receptor binding|chemoattractant activity|chemokine activity|chemokine receptor antagonist activity|protein homodimerization activity|protein self-association|receptor signaling protein tyrosine kinase activator activity 0 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0183) ACTCCCGAACCCATTTCTTCT 0.502000 ACLY 47 broad.mit.edu 37 17 40049326 40049326 + Nonsense_Mutation SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr17:40049326G>A uc002hyg.2 - 15 1724 c.1561C>T c.(1561-1563)CGA>TGA p.R521* ACLY_uc002hyh.2_Nonsense_Mutation_p.R511*|ACLY_uc002hyi.2_Nonsense_Mutation_p.R575*|ACLY_uc010wfx.1_Nonsense_Mutation_p.R565*|ACLY_uc010wfy.1_Nonsense_Mutation_p.R250* NM_001096 NP_001087 P53396 ACLY_HUMAN ATP citrate lyase isoform 1 521 ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process citrate lyase complex|cytosol|nucleus ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity ovary(2)|central_nervous_system(1) 3 Breast(137;0.000143) GGCTCGTCTCGGGAGCAGACA 0.557000 DHX58 79132 broad.mit.edu 37 17 40261296 40261296 + Missense_Mutation SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr17:40261296G>A uc002hyw.3 - 6 893 c.670C>T c.(670-672)CGC>TGC p.R224C DHX58_uc002hyv.3_RNA|DHX58_uc010wgf.1_Missense_Mutation_p.R217C NM_024119 NP_077024 Q96C10 DHX58_HUMAN RNA helicase LGP2 224 innate immune response cytoplasm ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding 0 all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) ACCTGGCTGCGCCTGTGGCAG 0.398000 RUNDC1 146923 broad.mit.edu 37 17 41141403 41141403 + Missense_Mutation SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr17:41141403G>A uc002ici.1 + 3 715 c.703G>A c.(703-705)GAG>AAG p.E235K RUNDC1_uc010whi.1_Missense_Mutation_p.E5K NM_173079 NP_775102 Q96C34 RUND1_HUMAN RUN domain containing 1 235 Potential. 0 Breast(137;0.00499) BRCA - Breast invasive adenocarcinoma(366;0.161) GAATCTGAATGAGGACATCAG 0.458000 PTPRM 5797 broad.mit.edu 37 18 7567872 7567872 + Missense_Mutation SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr18:7567872C>T uc002knn.3 + 1 559 c.56C>T c.(55-57)GCG>GTG p.A19V PTPRM_uc010dkv.2_Missense_Mutation_p.A19V NM_002845 NP_002836 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M 19 homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity lung(3)|ovary(2)|central_nervous_system(1) 6 Colorectal(10;0.234) CTAACTGCGGCGGGCGAGACG 0.388000 PTPRM 5797 broad.mit.edu 37 18 8069752 8069752 + Missense_Mutation SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr18:8069752G>A uc002knn.3 + 8 1704 c.1201G>A c.(1201-1203)GAG>AAG p.E401K PTPRM_uc010dkv.2_Missense_Mutation_p.E401K|PTPRM_uc010wzl.1_Missense_Mutation_p.E188K NM_002845 NP_002836 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M 401 Fibronectin type-III 2.|Extracellular (Potential). homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity lung(3)|ovary(2)|central_nervous_system(1) 6 Colorectal(10;0.234) TATCCGCTGGGAGCCATTTGG 0.418000 NPC1 4864 broad.mit.edu 37 18 21124448 21124448 + Missense_Mutation SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr18:21124448C>T uc002kum.3 - 13 2264 c.1990G>A c.(1990-1992)GTG>ATG p.V664M NPC1_uc010xaz.1_Missense_Mutation_p.V397M|NPC1_uc010xba.1_Missense_Mutation_p.V509M NM_000271 NP_000262 O15118 NPC1_HUMAN Niemann-Pick disease, type C1 precursor 664 SSD.|Helical; (Potential). V -> M (in NPC1). autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm hedgehog receptor activity|protein binding|sterol transporter activity ovary(2) 2 all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127) GAGCTCAGCACGATCAAGATG 0.532000 ZNF521 25925 broad.mit.edu 37 18 22805849 22805849 + Missense_Mutation SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr18:22805849G>A uc002kvk.2 - 4 2280 c.2033C>T c.(2032-2034)TCC>TTC p.S678F ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.S678F|ZNF521_uc002kvl.2_Missense_Mutation_p.S458F NM_015461 NP_056276 Q96K83 ZN521_HUMAN zinc finger protein 521 678 C2H2-type 15. cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding ovary(4)|large_intestine(2)|lung(1) 7 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) CTTCAGCAAGGATTCTTGGTT 0.423000 T PAX5 ALL ZNF397OS 100101467 broad.mit.edu 37 18 32834016 32834016 + Missense_Mutation SNP C C G TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr18:32834016C>G uc002kym.2 - 4 1111 c.883G>C c.(883-885)GAC>CAC p.D295H ZNF397_uc010dmq.2_Intron|ZNF397_uc010dmr.2_Intron|ZNF397_uc002kyj.2_Intron|ZNF397OS_uc002kyl.2_5'Flank|ZNF397OS_uc010xce.1_Missense_Mutation_p.D295H NM_001112734 NP_001106205 Q86W11 ZSC30_HUMAN zinc finger protein 397 opposite strand 295 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 TCCCTAGTGTCAACGCTCTGT 0.428000 KIAA1632 57724 broad.mit.edu 37 18 43438665 43438665 + Silent SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr18:43438665C>T uc002lbm.2 - 41 7192 c.7092G>A c.(7090-7092)CAG>CAA p.Q2364Q KIAA1632_uc010xcq.1_Silent_p.Q918Q|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_RNA|KIAA1632_uc002lbn.2_Silent_p.Q1239Q NM_020964 NP_066015 Q9HCE0 EPG5_HUMAN hypothetical protein LOC57724 2364 autophagy 0 TGAGGCACTCCTGCAGGAACT 0.468000 C3 718 broad.mit.edu 37 19 6712411 6712411 + Missense_Mutation SNP C C G TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr19:6712411C>G uc002mfm.2 - 11 1188 c.1126G>C c.(1126-1128)GTG>CTG p.V376L NM_000064 NP_000055 P01024 CO3_HUMAN complement component 3 precursor 376 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding skin(3)|ovary(1)|pancreas(1) 5 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) GGGTTCGTCACGAACACCTGT 0.657000 VAV1 7409 broad.mit.edu 37 19 6833745 6833745 + Splice_Site SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr19:6833745G>A uc002mfu.1 + 18 1828 c.1731_splice c.e18+1 p.K577_splice VAV1_uc010xjh.1_Splice_Site_p.K545_splice|VAV1_uc010dva.1_Splice_Site_p.K577_splice|VAV1_uc002mfv.1_Splice_Site_p.K522_splice NM_005428 NP_005419 P15498 VAV_HUMAN vav 1 guanine nucleotide exchange factor apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation cytosol|plasma membrane metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity lung(4)|ovary(4)|breast(3)|central_nervous_system(2)|kidney(2)|skin(1) 16 TATGAAGAAGGTAAGACTTTC 0.542000 CCDC151 115948 broad.mit.edu 37 19 11545634 11545634 + Missense_Mutation SNP G G T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr19:11545634G>T uc002mrs.2 - 1 347 c.204C>A c.(202-204)CAC>CAA p.H68Q CCDC151_uc010dxz.2_Missense_Mutation_p.H68Q|PRKCSH_uc002mrt.2_5'Flank|PRKCSH_uc002mru.2_5'Flank|PRKCSH_uc010xlz.1_5'Flank|PRKCSH_uc010dya.2_5'Flank|PRKCSH_uc002mrv.1_5'Flank|PRKCSH_uc010dyb.2_5'Flank NM_145045 NP_659482 A5D8V7 CC151_HUMAN coiled-coil domain containing 151 68 ovary(1) 1 CCACCTGAGAGTGCACAGAGG 0.567000 OREG0025257 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) MEF2B 100271849 broad.mit.edu 37 19 19261546 19261546 + Translation_Start_Site SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr19:19261546G>A uc002nlm.2 - 2 113 c.-1C>T c.(-3-1)GACGA>GATGA MEF2B_uc002nln.2_Missense_Mutation_p.T47M|MEF2B_uc002nll.2_Translation_Start_Site|LOC729991-MEF2B_uc010xqo.1_Translation_Start_Site|LOC729991-MEF2B_uc010xqp.1_Translation_Start_Site|LOC729991-MEF2B_uc002nlo.2_Translation_Start_Site|LOC729991-MEF2B_uc002nlp.2_Translation_Start_Site|MEF2B_uc002nlk.2_Translation_Start_Site NM_001145785 NP_001139257 myocyte enhancer factor 2B isoform a skin(1) 1 OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412) CCTCCCCATCGTCCCAGGCTG 0.557000 ZNF208 7757 broad.mit.edu 37 19 22156661 22156661 + Missense_Mutation SNP G G T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr19:22156661G>T uc002nqp.2 - 4 1324 c.1175C>A c.(1174-1176)ACT>AAT p.T392N ZNF208_uc002nqo.1_Intron|ZNF208_uc010ecw.1_5'Flank NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) TTTCTCTCCAGTATGAATTTT 0.388000 HNRNPL 3191 broad.mit.edu 37 19 39321782 39321782 + Silent SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr19:39321782C>T uc002ojj.1 - 7 992 c.912G>A c.(910-912)AAG>AAA p.K304K ECH1_uc002oji.2_Silent_p.K95K|ECH1_uc010xuk.1_Silent_p.K95K|HNRNPL_uc010ege.1_Intron NM_001005335 NP_001005335 P14866 HNRPL_HUMAN heterogeneous nuclear ribonucleoprotein L Error:Variant_position_missing_in_P14866_after_alignment nuclear mRNA splicing, via spliceosome cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding 0 all_cancers(60;6.83e-06)|Ovarian(47;0.0454) Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575) CTCTCGAAATCTTGTTGAAGC 0.537000 GRIK5 2901 broad.mit.edu 37 19 42558546 42558546 + Missense_Mutation SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr19:42558546C>T uc002osj.1 - 8 1017 c.982G>A c.(982-984)GGT>AGT p.G328S GRIK5_uc010eib.1_Missense_Mutation_p.G247S NM_002088 NP_002079 Q16478 GRIK5_HUMAN glutamate receptor KA2 precursor 328 Extracellular (Potential). cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity 0 Prostate(69;0.059) L-Glutamic Acid(DB00142) GGCTTCACACCGATCTCCTGG 0.652000 CCDC61 729440 broad.mit.edu 37 19 46498688 46498688 + Missense_Mutation SNP A A G TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr19:46498688A>G uc002pdw.2 + 2 86 c.86A>G c.(85-87)GAG>GGG p.E29G NM_001080402 NP_001073871 coiled-coil domain containing 61 ovary(1) 1 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164) ATCAGAAGCGAGAACGCCGGA 0.612000 CHMP2A 27243 broad.mit.edu 37 19 59065483 59065483 + Nonsense_Mutation SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr19:59065483G>A uc002qti.2 - 1 523 c.97C>T c.(97-99)CGA>TGA p.R33* CHMP2A_uc002qtj.2_Nonsense_Mutation_p.R33*|CHMP2A_uc002qtk.2_Nonsense_Mutation_p.R33* NM_198426 NP_940818 O43633 CHM2A_HUMAN chromatin modifying protein 2A 33 Potential. cellular membrane organization|endosome transport|protein transport cytosol|late endosome membrane protein domain specific binding 0 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179) AGTTTCTGTCGCTCGCGGTCC 0.582000 PPM1B 5495 broad.mit.edu 37 2 44428441 44428441 + Missense_Mutation SNP G G C TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr2:44428441G>C uc002rtt.2 + 2 531 c.103G>C c.(103-105)GAA>CAA p.E35Q PPM1B_uc002rts.2_Missense_Mutation_p.E35Q|PPM1B_uc002rtu.2_Missense_Mutation_p.E35Q|PPM1B_uc002rtv.2_Intron|PPM1B_uc002rtw.2_Missense_Mutation_p.E35Q|PPM1B_uc002rtx.2_Missense_Mutation_p.E35Q NM_002706 NP_002697 O75688 PPM1B_HUMAN protein phosphatase 1B isoform 1 35 protein dephosphorylation protein serine/threonine phosphatase complex magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity kidney(1)|skin(1) 2 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) ATGGAGAGTGGAAATGGAAGA 0.463000 PROM2 150696 broad.mit.edu 37 2 95952270 95952270 + Missense_Mutation SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr2:95952270G>A uc002suh.1 + 17 2124 c.1991G>A c.(1990-1992)GGA>GAA p.G664E PROM2_uc002sui.2_Missense_Mutation_p.G664E|PROM2_uc002suj.2_Missense_Mutation_p.G318E|PROM2_uc002suk.2_Missense_Mutation_p.G664E|PROM2_uc002sul.2_Missense_Mutation_p.G190E|PROM2_uc002sum.2_RNA NM_144707 NP_653308 Q8N271 PROM2_HUMAN prominin 2 precursor 664 Extracellular (Potential). apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane ovary(1) 1 GAGGCCCAAGGACTCAGAAAC 0.627000 LONRF2 164832 broad.mit.edu 37 2 100912008 100912008 + Missense_Mutation SNP G G T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr2:100912008G>T uc002tal.3 - 8 2124 c.1484C>A c.(1483-1485)GCA>GAA p.A495E LONRF2_uc010yvs.1_RNA NM_198461 NP_940863 Q1L5Z9 LONF2_HUMAN LON peptidase N-terminal domain and ring finger 495 proteolysis ATP-dependent peptidase activity|zinc ion binding large_intestine(1)|skin(1) 2 GTTTCTGCTTGCCAATAACTG 0.368000 DPP10 57628 broad.mit.edu 37 2 116538567 116538567 + Silent SNP T T C TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr2:116538567T>C uc002tla.1 + 16 1936 c.1479T>C c.(1477-1479)TGT>TGC p.C493C DPP10_uc002tlb.1_Silent_p.C443C|DPP10_uc002tlc.1_Silent_p.C489C|DPP10_uc002tle.2_Silent_p.C497C|DPP10_uc002tlf.1_Silent_p.C486C NM_020868 NP_065919 Q8N608 DPP10_HUMAN dipeptidyl peptidase 10 isoform long 493 Extracellular (Potential). proteolysis integral to membrane|membrane fraction serine-type peptidase activity ovary(5)|large_intestine(2)|skin(2)|breast(1) 10 TATTATTCTGTGAAGGTAAGA 0.279000 KCNJ3 3760 broad.mit.edu 37 2 155566118 155566118 + Missense_Mutation SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr2:155566118C>T uc002tyv.1 + 2 901 c.706C>T c.(706-708)CGG>TGG p.R236W KCNJ3_uc010zce.1_Intron NM_002239 NP_002230 P48549 IRK3_HUMAN potassium inwardly-rectifying channel J3 236 Cytoplasmic (By similarity). synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding upper_aerodigestive_tract(1)|pancreas(1) 2 Halothane(DB01159) TGTCTAGTCTCGGCAGACACC 0.453000 SCN1A 6323 broad.mit.edu 37 2 166847826 166847826 + Missense_Mutation SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr2:166847826C>T uc010zcz.1 - 26 5944 c.5926G>A c.(5926-5928)GAC>AAC p.D1976N NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 1987 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) GTCACCCGGTCATAGGAAGGT 0.343000 XIRP2 129446 broad.mit.edu 37 2 168100087 168100087 + Missense_Mutation SNP G G T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr2:168100087G>T uc002udx.2 + 8 2203 c.2185G>T c.(2185-2187)GTT>TTT p.V729F XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.V554F|XIRP2_uc010fpq.2_Missense_Mutation_p.V507F|XIRP2_uc010fpr.2_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 554 Xin 6. actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 TAAGGGAAATGTTAAAAGAAG 0.363000 TTN 7273 broad.mit.edu 37 2 179482993 179482993 + Missense_Mutation SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr2:179482993C>T uc010zfg.1 - 201 39712 c.39488G>A c.(39487-39489)CGT>CAT p.R13163H TTN_uc010zfh.1_Missense_Mutation_p.R6858H|TTN_uc010zfi.1_Missense_Mutation_p.R6791H|TTN_uc010zfj.1_Missense_Mutation_p.R6666H NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 14090 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) TGCACTCACACGGAATAGGTA 0.438000 ADAM23 8745 broad.mit.edu 37 2 207429756 207429756 + Missense_Mutation SNP C C A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr2:207429756C>A uc002vbq.2 + 14 1581 c.1358C>A c.(1357-1359)ACA>AAA p.T453K ADAM23_uc010ziv.1_RNA NM_003812 NP_003803 O75077 ADA23_HUMAN ADAM metallopeptidase domain 23 preproprotein 453 Peptidase M12B.|Extracellular (Potential). cell adhesion|central nervous system development|proteolysis extracellular region|integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding skin(2)|ovary(1) 3 LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205) TGTGACTGCACAGAATCCTGG 0.353000 TGM6 343641 broad.mit.edu 37 20 2384268 2384268 + Missense_Mutation SNP G G A rs148470870 byFrequency TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr20:2384268G>A uc002wfy.1 + 9 1196 c.1135G>A c.(1135-1137)GAG>AAG p.E379K TGM6_uc010gal.1_Missense_Mutation_p.E379K NM_198994 NP_945345 O95932 TGM3L_HUMAN transglutaminase 6 379 cell death|peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(3)|skin(1) 4 L-Glutamine(DB00130) CGCCATCCGCGAGGGTGATGT 0.637000 COMMD7 149951 broad.mit.edu 37 20 31291840 31291840 + Missense_Mutation SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr20:31291840C>T uc002wya.3 - 8 1128 c.511G>A c.(511-513)GAA>AAA p.E171K COMMD7_uc010ged.2_Missense_Mutation_p.E170K|COMMD7_uc002wyb.2_Missense_Mutation_p.E171K NM_053041 NP_444269 Q86VX2 COMD7_HUMAN COMM domain containing 7 isoform 1 171 COMM. E -> K (in Ref. 1; AAS22244 and 5; AAH47440). negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|tumor necrosis factor-mediated signaling pathway NF-kappaB binding breast(1) 1 TACACATTTTCGGTTTGATTT 0.368000 DLGAP4 22839 broad.mit.edu 37 20 35060202 35060202 + Missense_Mutation SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr20:35060202G>A uc002xff.2 + 3 517 c.82G>A c.(82-84)GAC>AAC p.D28N DLGAP4_uc010zvp.1_Missense_Mutation_p.D28N NM_014902 NP_055717 Q9Y2H0 DLGP4_HUMAN disks large-associated protein 4 isoform a 28 cell-cell signaling membrane protein binding skin(2)|ovary(1) 3 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) TGCAGGGACCGACCGCAACCC 0.697000 SALL4 57167 broad.mit.edu 37 20 50407885 50407885 + Silent SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr20:50407885G>A uc002xwh.3 - 2 1238 c.1137C>T c.(1135-1137)CTC>CTT p.L379L SALL4_uc010gii.2_Silent_p.L379L|SALL4_uc002xwi.3_Intron NM_020436 NP_065169 Q9UJQ4 SALL4_HUMAN sal-like 4 379 transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 TGTGCTTGTAGAGGGCCGCCT 0.552000 SPO11 23626 broad.mit.edu 37 20 55918512 55918512 + Missense_Mutation SNP T T C TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr20:55918512T>C uc002xye.2 + 13 1280 c.1187T>C c.(1186-1188)ATA>ACA p.I396T SPO11_uc002xyf.2_Missense_Mutation_p.I358T NM_012444 NP_036576 Q9Y5K1 SPO11_HUMAN meiotic recombination protein SPO11 isoform a 396 female gamete generation|reciprocal meiotic recombination chromosome|nucleus ATP binding|DNA binding|hydrolase activity breast(2)|skin(1) 3 Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09) GGAGGATGGATATAAAAATAA 0.303000 Editing_and_processing_nucleases GNAS 2778 broad.mit.edu 37 20 57430185 57430185 + Missense_Mutation SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr20:57430185G>A uc002xzw.2 + 1 2150 c.1865G>A c.(1864-1866)CGA>CAA p.R622Q GNAS_uc002xzt.2_Intron|GNAS_uc002xzu.3_Intron|GNAS_uc010gjq.2_Intron|GNAS_uc002xzv.2_RNA NM_080425 NP_536350 P63092 GNAS2_HUMAN GNAS complex locus XLas 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) TGCTTCGGTCGATCTGAGAGT 0.612000 Mis pituitary adenoma McCune-Albright syndrome; pseudohypoparathyroidism|type IA 3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome TSP Lung(22;0.16) LAMA5 3911 broad.mit.edu 37 20 60907448 60907448 + Missense_Mutation SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr20:60907448C>T uc002ycq.2 - 28 3599 c.3532G>A c.(3532-3534)GAA>AAA p.E1178K NM_005560 NP_005551 O15230 LAMA5_HUMAN laminin alpha 5 precursor 1178 Domain IV 1 (domain IV B). angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding ovary(1)|pancreas(1)|skin(1) 3 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CGTGCCTGTTCGGCTGTGAGC 0.622000 EEF1A2 1917 broad.mit.edu 37 20 62126392 62126392 + Silent SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr20:62126392C>T uc002yfd.1 - 3 488 c.387G>A c.(385-387)AAG>AAA p.K129K EEF1A2_uc002yfe.1_Silent_p.K129K|EEF1A2_uc010gkg.1_Silent_p.K129K NM_001958 NP_001949 Q05639 EF1A2_HUMAN eukaryotic translation elongation factor 1 alpha 129 nucleus GTP binding|GTPase activity|protein binding|translation elongation factor activity 0 all_cancers(38;9.45e-12) BRCA - Breast invasive adenocarcinoma(10;1.22e-05) TCTGCCCATTCTTGGAGATGC 0.672000 C20orf135 140701 broad.mit.edu 37 20 62493340 62493340 + Missense_Mutation SNP C C G TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr20:62493340C>G uc002ygx.1 + 1 775 c.447C>G c.(445-447)GAC>GAG p.D149E NM_080622 NP_542189 Q9H3Z7 ABHGB_HUMAN hypothetical protein LOC140701 149 hydrolase activity 0 all_cancers(38;1.77e-12)|all_epithelial(29;3.12e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09) TGGCCTGTGACGGCAACGAGA 0.701000 TPTE 7179 broad.mit.edu 37 21 10970031 10970031 + Missense_Mutation SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr21:10970031C>T uc002yip.1 - 6 465 c.97G>A c.(97-99)GAG>AAG p.E33K TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.E33K|TPTE_uc002yir.1_Missense_Mutation_p.E33K|TPTE_uc010gkv.1_Intron NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 33 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GGTGCCTCCTCGGTTGCTCCT 0.393000 RUNX1 861 broad.mit.edu 37 21 36171641 36171641 + Silent SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr21:36171641G>A uc002yuh.2 - 5 2421 c.843C>T c.(841-843)AGC>AGT p.S281S RUNX1_uc002yui.2_Silent_p.S217S|RUNX1_uc010gmu.2_Silent_p.S308S|RUNX1_uc010gmv.2_Silent_p.S308S|RUNX1_uc002yuj.3_Silent_p.S176S|RUNX1_uc002yuk.3_Silent_p.S308S|RUNX1_uc002yul.1_Silent_p.S73S|RUNX1_uc002yum.1_Silent_p.S112S NM_001001890 NP_001001890 Q01196 RUNX1_HUMAN runt-related transcription factor 1 isoform 281 Pro/Ser/Thr-rich. Missing: No DNA-binding. myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent nucleus|nucleus ATP binding|calcium ion binding|DNA binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding p.Y281*(1) haematopoietic_and_lymphoid_tissue(383)|lung(2)|ovary(1)|central_nervous_system(1) 387 TTGTCATGCCGCTGGCACGTC 0.547000 T RPL22|MDS1|EVI1|CBFA2T3|CBFA2T1|ETV6|LAF4 AML|preB- ALL|T-ALL Platelet_disorder_associated_with_Myeloid_Malignancies DSCAM 1826 broad.mit.edu 37 21 41710048 41710048 + Missense_Mutation SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr21:41710048C>T uc002yyq.1 - 8 2215 c.1763G>A c.(1762-1764)AGC>AAC p.S588N DSCAM_uc002yyr.1_RNA NM_001389 NP_001380 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule isoform 588 Extracellular (Potential).|Ig-like C2-type 6. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding ovary(6)|skin(4)|upper_aerodigestive_tract(1) 11 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) CACGTGGACGCTCTGGCTGGT 0.502000 C22orf31 25770 broad.mit.edu 37 22 29456681 29456681 + Missense_Mutation SNP T T C TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr22:29456681T>C uc003aej.1 - 2 281 c.154A>G c.(154-156)AAT>GAT p.N52D NM_015370 NP_056185 O95567 CV031_HUMAN hypothetical protein LOC25770 52 0 GCTGGGGCATTAATGTTCTGC 0.488000 SSTR3 6753 broad.mit.edu 37 22 37602944 37602944 + Missense_Mutation SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr22:37602944G>A uc003ara.2 - 2 961 c.899C>T c.(898-900)GCG>GTG p.A300V SSTR3_uc003arb.2_Missense_Mutation_p.A300V NM_001051 NP_001042 P32745 SSR3_HUMAN somatostatin receptor 3 300 Helical; Name=7; (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation integral to plasma membrane|nonmotile primary cilium somatostatin receptor activity lung(1) 1 ATAGGGCAGCGCCACCACCAG 0.622000 ITGA9 3680 broad.mit.edu 37 3 37845379 37845379 + Silent SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr3:37845379C>T uc003chd.2 + 27 3008 c.2955C>T c.(2953-2955)ATC>ATT p.I985I NM_002207 NP_002198 Q13797 ITA9_HUMAN integrin, alpha 9 precursor 985 Helical; (Potential). axon guidance|cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity breast(3)|pancreas(1)|lung(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197) TCATCGCCATCAGTTTGTTGG 0.557000 CCDC13 152206 broad.mit.edu 37 3 42788762 42788762 + Missense_Mutation SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr3:42788762C>T uc003cly.3 - 6 791 c.707G>A c.(706-708)CGG>CAG p.R236Q CCDC13_uc003clz.2_Missense_Mutation_p.R236Q|CCDC13_uc011azq.1_3'UTR NM_144719 NP_653320 Q8IYE1 CCD13_HUMAN coiled-coil domain containing 13 236 Potential. ovary(1) 1 CTGTGCCATCCGCAGCTCCTG 0.592000 KLHL18 23276 broad.mit.edu 37 3 47378200 47378200 + Silent SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr3:47378200G>A uc003crd.2 + 7 1200 c.1074G>A c.(1072-1074)CCG>CCA p.P358P KLHL18_uc003crc.2_Silent_p.P358P|KLHL18_uc011bav.1_Silent_p.P246P|KLHL18_uc010hjq.1_Silent_p.P214P NM_025010 NP_079286 O94889 KLH18_HUMAN kelch-like 18 358 Kelch 2. 0 Acute lymphoblastic leukemia(5;0.164) BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741) CCTACAACCCGGAGACAGACA 0.597000 MAP4 4134 broad.mit.edu 37 3 47913507 47913507 + Missense_Mutation SNP C C A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr3:47913507C>A uc003csb.2 - 11 2932 c.2406G>T c.(2404-2406)AAG>AAT p.K802N MAP4_uc003csc.3_Missense_Mutation_p.K802N|MAP4_uc003crw.2_5'Flank|MAP4_uc003crx.2_Missense_Mutation_p.K62N|MAP4_uc011bbe.1_Missense_Mutation_p.K553N|MAP4_uc003cry.2_Missense_Mutation_p.K537N|MAP4_uc003csa.3_Missense_Mutation_p.K537N|MAP4_uc003crz.3_RNA|MAP4_uc003csd.2_Missense_Mutation_p.K537N NM_002375 NP_002366 P27816 MAP4_HUMAN microtubule-associated protein 4 isoform 1 802 negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity ovary(2)|pancreas(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736) TCTGAGTGCTCTTGGACCCAG 0.577000 C3orf63 23272 broad.mit.edu 37 3 56657367 56657367 + Missense_Mutation SNP T T C TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr3:56657367T>C uc003did.3 - 23 4629 c.4528A>G c.(4528-4530)AGA>GGA p.R1510G C3orf63_uc003dib.3_Missense_Mutation_p.R629G|C3orf63_uc003dic.3_Missense_Mutation_p.R1134G|C3orf63_uc003die.3_3'UTR NM_015224 NP_056039 Q9UK61 CC063_HUMAN retinoblastoma-associated protein 140 isoform b 1571 ovary(3)|kidney(1)|central_nervous_system(1) 5 KIRC - Kidney renal clear cell carcinoma(284;0.0126)|Kidney(284;0.0147) ATAGAAGTTCTCTCTTCAGAA 0.318000 PROS1 5627 broad.mit.edu 37 3 93646135 93646135 + Missense_Mutation SNP T T C TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr3:93646135T>C uc003drb.3 - 2 534 c.193A>G c.(193-195)AAA>GAA p.K65E PROS1_uc010hoo.2_Translation_Start_Site|PROS1_uc003dqz.3_Translation_Start_Site NM_000313 NP_000304 P07225 PROS_HUMAN protein S, alpha preproprotein 65 Gla. leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen calcium ion binding|endopeptidase inhibitor activity large_intestine(1) 1 Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170) GCTTCTTCTTTATTGCACAGT 0.413000 EPHB1 2047 broad.mit.edu 37 3 134851754 134851754 + Missense_Mutation SNP C C T rs56396912 TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr3:134851754C>T uc003eqt.2 + 5 1380 c.1160C>T c.(1159-1161)ACG>ATG p.T387M EPHB1_uc010htz.1_RNA|EPHB1_uc011bly.1_3'UTR|EPHB1_uc003equ.2_Translation_Start_Site NM_004441 NP_004432 P54762 EPHB1_HUMAN ephrin receptor EphB1 precursor 387 Extracellular (Potential).|Fibronectin type-III 1. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding p.T387M(4)|p.T387T(1) lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1) 30 CTGGGCCTGACGGAGTGCCGC 0.612000 NLGN1 22871 broad.mit.edu 37 3 173322864 173322864 + Missense_Mutation SNP A A G TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr3:173322864A>G uc003fio.1 + 3 899 c.476A>G c.(475-477)TAT>TGT p.Y159C NLGN1_uc010hww.1_Missense_Mutation_p.Y159C|NLGN1_uc003fip.1_Missense_Mutation_p.Y159C NM_014932 NP_055747 Q8N2Q7 NLGN1_HUMAN neuroligin 1 159 Extracellular (Potential). calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1) 7 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) TTAAATATATATGTCCCGACT 0.343000 SPON2 10417 broad.mit.edu 37 4 1165840 1165840 + Missense_Mutation SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr4:1165840G>A uc003gcn.3 - 1 47 c.20C>T c.(19-21)GCC>GTC p.A7V SPON2_uc003gco.3_Missense_Mutation_p.A7V|SPON2_uc010ibr.2_Missense_Mutation_p.A7V|SPON2_uc003gcm.1_5'Flank NM_012445 NP_036577 Q9BUD6 SPON2_HUMAN spondin 2, extracellular matrix protein 7 axon guidance|cell adhesion|innate immune response proteinaceous extracellular matrix metal ion binding central_nervous_system(1) 1 OV - Ovarian serous cystadenocarcinoma(23;0.00805) UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19) CAGGGCGGCGGCCGGGCTGGG 0.726000 FAM53A 152877 broad.mit.edu 37 4 1656730 1656730 + Missense_Mutation SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr4:1656730G>A uc011bve.1 - 4 1055 c.857C>T c.(856-858)TCC>TTC p.S286F FAM53A_uc010ibw.2_Missense_Mutation_p.S286F NM_001013622 NP_001013644 Q6NSI3 FA53A_HUMAN dorsal neural-tube nuclear protein 286 nucleus 0 all_epithelial(65;0.206)|Breast(71;0.212) OV - Ovarian serous cystadenocarcinoma(23;0.0145) GAAGTCCAAGGATGGGCGTGT 0.637000 LAP3 51056 broad.mit.edu 37 4 17609194 17609194 + Silent SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr4:17609194C>T uc003gph.1 + 13 1704 c.1542C>T c.(1540-1542)TTC>TTT p.F514F NM_015907 NP_056991 P28838 AMPL_HUMAN leucine aminopeptidase 3 514 proteolysis nucleus aminopeptidase activity|magnesium ion binding|manganese ion binding|metalloexopeptidase activity|zinc ion binding 0 TACTTCGTTTCAGTCAAGACA 0.393000 NCAPG 64151 broad.mit.edu 37 4 17814759 17814759 + Missense_Mutation SNP G G C TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr4:17814759G>C uc003gpp.2 + 3 711 c.535G>C c.(535-537)GTG>CTG p.V179L NCAPG_uc011bxj.1_5'UTR|DCAF16_uc003gpn.2_5'Flank NM_022346 NP_071741 Q9BPX3 CND3_HUMAN chromosome condensation protein G 179 HEAT 3. cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus protein binding large_intestine(1) 1 STAD - Stomach adenocarcinoma(129;0.18) TGAATGCCCAGTGGTTAATGG 0.318000 PCDH7 5099 broad.mit.edu 37 4 31144151 31144151 + Missense_Mutation SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr4:31144151G>A uc011bxx.1 + 3 4432 c.3424G>A c.(3424-3426)GAG>AAG p.E1142K PCDH7_uc011bxw.1_Missense_Mutation_p.E1095K NM_002589 NP_002580 O60245 PCDH7_HUMAN protocadherin 7 isoform a precursor Error:Variant_position_missing_in_O60245_after_alignment homophilic cell adhesion integral to plasma membrane calcium ion binding upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1) 4 TGAGTGTGATGAGTATGGCCA 0.507000 ARAP2 116984 broad.mit.edu 37 4 36069743 36069743 + Missense_Mutation SNP T T G TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr4:36069743T>G uc003gsq.1 - 33 5239 c.4901A>C c.(4900-4902)AAC>ACC p.N1634T ARAP2_uc003gso.2_Intron NM_015230 NP_056045 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH 1634 regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 CTCCAGGCAGTTGAAACTCCG 0.512000 EPHA5 2044 broad.mit.edu 37 4 66467877 66467877 + Missense_Mutation SNP T T G TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr4:66467877T>G uc003hcy.2 - 3 585 c.392A>C c.(391-393)AAA>ACA p.K131T EPHA5_uc003hcx.2_Missense_Mutation_p.K62T|EPHA5_uc003hcz.2_Missense_Mutation_p.K131T|EPHA5_uc011cah.1_Missense_Mutation_p.K131T|EPHA5_uc011cai.1_Missense_Mutation_p.K131T|EPHA5_uc003hda.2_Missense_Mutation_p.K131T NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor 131 Extracellular (Potential). cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity lung(19)|stomach(2)|ovary(2)|central_nervous_system(1) 24 CAGGGTAAATTTGAGTTCTAT 0.428000 TSP Lung(17;0.13) BMP2K 55589 broad.mit.edu 37 4 79793071 79793071 + Missense_Mutation SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr4:79793071C>T uc003hlk.2 + 12 1743 c.1577C>T c.(1576-1578)CCA>CTA p.P526L BMP2K_uc003hlj.2_Missense_Mutation_p.P526L|BMP2K_uc003hll.2_5'Flank NM_198892 NP_942595 Q9NSY1 BMP2K_HUMAN BMP-2 inducible kinase isoform a 526 Gln/His-rich. nucleus ATP binding|protein serine/threonine kinase activity lung(1) 1 GTATATCAACCACAACCTTCT 0.323000 UNC5C 8633 broad.mit.edu 37 4 96127903 96127903 + Missense_Mutation SNP C C A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr4:96127903C>A uc003htp.1 - 11 1932 c.1778G>T c.(1777-1779)AGC>ATC p.S593I UNC5C_uc010ilc.1_Missense_Mutation_p.S612I NM_003728 NP_003719 O95185 UNC5C_HUMAN unc5C precursor 593 Cytoplasmic (Potential).|ZU5. apoptosis|axon guidance|brain development integral to membrane netrin receptor activity ovary(3)|pancreas(1) 4 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) GGGCCCACAGCTCACCACAGG 0.532000 METTL14 57721 broad.mit.edu 37 4 119618350 119618350 + Missense_Mutation SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr4:119618350G>A uc003icf.2 + 7 633 c.517G>A c.(517-519)GAT>AAT p.D173N METTL14_uc003icg.2_Missense_Mutation_p.D135N NM_020961 NP_066012 Q9HCE5 MTL14_HUMAN methyltransferase like 14 173 nucleus mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity 0 CTTACAAGCCGATATAGAAGC 0.323000 MFAP3L 9848 broad.mit.edu 37 4 170913336 170913336 + Silent SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr4:170913336G>A uc003isp.3 - 3 601 c.423C>T c.(421-423)CGC>CGT p.R141R MFAP3L_uc003isn.3_Silent_p.R38R NM_021647 NP_067679 O75121 MFA3L_HUMAN microfibrillar-associated protein 3-like isoform 141 Extracellular (Potential).|Ig-like C2-type. integral to membrane|plasma membrane ovary(1) 1 Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17) GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116) TGAAGATGACGCGCAAGGTCA 0.527000 ODZ3 55714 broad.mit.edu 37 4 183696162 183696162 + Silent SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr4:183696162G>A uc003ivd.1 + 23 5197 c.5160G>A c.(5158-5160)CCG>CCA p.P1720P NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN odz, odd Oz/ten-m homolog 3 1720 Extracellular (Potential). signal transduction integral to membrane 0 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) AAACAGAGCCGCACGTTCTGG 0.493000 TERT 7015 broad.mit.edu 37 5 1264673 1264673 + Missense_Mutation SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr5:1264673C>T uc003jcb.1 - 11 2747 c.2689G>A c.(2689-2691)GTG>ATG p.V897M TERT_uc003jbz.1_Missense_Mutation_p.V93M|TERT_uc003jca.1_Missense_Mutation_p.V885M|TERT_uc003jcc.1_Intron|TERT_uc003jcd.1_Intron|TERT_uc003jce.1_Intron NM_198253 NP_937983 O14746 TERT_HUMAN telomerase reverse transcriptase isoform 1 897 Reverse transcriptase. anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase cytoplasm|nucleolus|PML body|telomerase holoenzyme complex protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity lung(7)|ovary(2)|central_nervous_system(2)|skin(1) 12 all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10) Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) AAGTTCACCACGCAGCCATAC 0.622000 TERT_Mutation-Associated_Haematological_Disorders|Congenital_Dyskeratosis|Pulmonary_Fibrosis_Idiopathic KIAA0947 23379 broad.mit.edu 37 5 5461956 5461956 + Missense_Mutation SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr5:5461956C>T uc003jdm.3 + 13 2731 c.2509C>T c.(2509-2511)CTT>TTT p.L837F NM_015325 NP_056140 Q9Y2F5 K0947_HUMAN hypothetical protein LOC23379 837 ovary(1)|central_nervous_system(1) 2 CAAGCCTGATCTTCTTAGAGA 0.403000 DNAH5 1767 broad.mit.edu 37 5 13754330 13754330 + Nonsense_Mutation SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr5:13754330G>A uc003jfd.2 - 62 10579 c.10537C>T c.(10537-10539)CAA>TAA p.Q3513* DNAH5_uc003jfc.2_5'UTR NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3513 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) CTTTTAGTTTGTGCAGCAAAC 0.393000 Kartagener_syndrome CCNH 902 broad.mit.edu 37 5 86700776 86700776 + Missense_Mutation SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr5:86700776C>T uc003kjb.2 - 5 806 c.574G>A c.(574-576)GAT>AAT p.D192N CCNH_uc003kiy.1_Intron|CCNH_uc003kiz.1_Missense_Mutation_p.D139N|CCNH_uc003kja.2_Missense_Mutation_p.D139N NM_001239 NP_001230 P51946 CCNH_HUMAN cyclin H 192 G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction cyclin-dependent protein kinase activating kinase holoenzyme complex|holo TFIIH complex protein kinase binding ovary(2)|kidney(1) 3 all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423) OV - Ovarian serous cystadenocarcinoma(54;9.01e-39)|Epithelial(54;5.08e-33)|all cancers(79;4.28e-28) AGAAAGTCATCAGCTGTTTTC 0.408000 Direct_reversal_of_damage|NER SRFBP1 153443 broad.mit.edu 37 5 121356468 121356468 + Silent SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr5:121356468C>T uc003kst.1 + 6 1110 c.1038C>T c.(1036-1038)CAC>CAT p.H346H NM_152546 NP_689759 Q8NEF9 SRFB1_HUMAN serum response factor binding protein 1 346 regulation of transcription, DNA-dependent|transcription, DNA-dependent perinuclear region of cytoplasm 0 all_cancers(142;0.0124)|Prostate(80;0.0322) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517) TGTTTTTCCACTCTTTATCTG 0.313000 PCDHB6 56130 broad.mit.edu 37 5 140530019 140530019 + Missense_Mutation SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr5:140530019C>T uc003lir.2 + 1 181 c.181C>T c.(181-183)CGG>TGG p.R61W PCDHB6_uc011dah.1_Intron NM_018939 NP_061762 Q9Y5E3 PCDB6_HUMAN protocadherin beta 6 precursor 61 Extracellular (Potential).|Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCTGGCTTCGCGGGGCGCTCG 0.507000 PCDHGA3 56112 broad.mit.edu 37 5 140725213 140725213 + Missense_Mutation SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr5:140725213G>A uc003ljm.1 + 1 1613 c.1613G>A c.(1612-1614)GGG>GAG p.G538E PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Missense_Mutation_p.G298E|PCDHGA3_uc011dap.1_Missense_Mutation_p.G538E NM_018916 NP_061739 Q9Y5H0 PCDG3_HUMAN protocadherin gamma subfamily A, 3 isoform 1 538 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCGACAGCGGGAACCCTCCA 0.572000 PCDHGA6 56109 broad.mit.edu 37 5 140755983 140755983 + Missense_Mutation SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr5:140755983C>T uc003ljy.1 + 1 2333 c.2333C>T c.(2332-2334)ACG>ATG p.T778M 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_uc011dau.1_Missense_Mutation_p.T778M NM_018919 NP_061742 Q9Y5G7 PCDG6_HUMAN protocadherin gamma subfamily A, 6 isoform 1 778 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TATGCCGACACGCTTATCAAC 0.507000 CSF1R 1436 broad.mit.edu 37 5 149447874 149447874 + Silent SNP C C T rs145267004 TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr5:149447874C>T uc003lrl.2 - 10 1725 c.1530G>A c.(1528-1530)CCG>CCA p.P510P CSF1R_uc011dcd.1_Silent_p.P362P|CSF1R_uc010jhc.2_RNA|CSF1R_uc003lrm.2_Silent_p.P510P NM_005211 NP_005202 P07333 CSF1R_HUMAN colony stimulating factor 1 receptor precursor 510 Extracellular (Potential). cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|receptor complex ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity haematopoietic_and_lymphoid_tissue(38)|lung(6)|central_nervous_system(3)|liver(3)|breast(2)|endometrium(1)|ovary(1) 54 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) Imatinib(DB00619)|Sunitinib(DB01268) GGAACTCATCCGGGGGATGCG 0.458000 DNAH8 1769 broad.mit.edu 37 6 38702323 38702323 + Silent SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr6:38702323G>A uc003ooe.1 + 3 633 c.33G>A c.(31-33)CCG>CCA p.P11P DNAH8_uc003ood.1_Silent_p.P228P NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 p.P11P(1) skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 ATGCAGCCCCGGATAAACTAA 0.353000 PGC 5225 broad.mit.edu 37 6 41711094 41711094 + Missense_Mutation SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr6:41711094G>A uc003ora.1 - 4 411 c.362C>T c.(361-363)TCC>TTC p.S121F NM_002630 NP_002621 P20142 PEPC_HUMAN progastricsin (pepsinogen C) precursor 121 digestion|proteolysis extracellular space aspartic-type endopeptidase activity 0 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507) GGAGTAGGTGGACGACTCGCT 0.642000 CD164 8763 broad.mit.edu 37 6 109691643 109691643 + Missense_Mutation SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr6:109691643G>A uc003pte.2 - 5 579 c.398C>T c.(397-399)TCT>TTT p.S133F CD164_uc003ptd.2_Missense_Mutation_p.S133F|CD164_uc003ptf.2_Intron|CD164_uc011eap.1_Missense_Mutation_p.S133F|CD164_uc010kdn.2_Missense_Mutation_p.S120F NM_006016 NP_006007 Q04900 MUC24_HUMAN CD164 molecule, sialomucin isoform 1 133 Thr-rich.|Extracellular (Potential). hemopoiesis|heterophilic cell-cell adhesion|immune response|muscle organ development|negative regulation of cell adhesion|negative regulation of cell proliferation|signal transduction endosome membrane|extracellular region|integral to plasma membrane|lysosomal membrane protein binding 0 all_cancers(87;4.65e-22)|all_epithelial(87;2.54e-20)|all_lung(197;1.6e-05)|Lung NSC(302;2.92e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.0175) Epithelial(106;7.83e-46)|all cancers(137;1.15e-45)|OV - Ovarian serous cystadenocarcinoma(136;2.89e-26)|BRCA - Breast invasive adenocarcinoma(108;0.00128)|GBM - Glioblastoma multiforme(226;0.16) GGAAGTTGTAGAAGGGGAGGG 0.378000 SYNE1 23345 broad.mit.edu 37 6 152642497 152642497 + Missense_Mutation SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr6:152642497C>T uc010kiw.2 - 84 16714 c.16112G>A c.(16111-16113)CGA>CAA p.R5371Q SYNE1_uc003qot.3_Missense_Mutation_p.R5300Q|SYNE1_uc003qou.3_Missense_Mutation_p.R5371Q|SYNE1_uc010kiz.2_Missense_Mutation_p.R1126Q NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 5371 Potential.|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) AATGTTCTGTCGGTGATTTGT 0.393000 HNSCC(10;0.0054) ADAP1 11033 broad.mit.edu 37 7 944770 944770 + Missense_Mutation SNP T T G TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr7:944770T>G uc003sjo.3 - 5 604 c.428A>C c.(427-429)AAC>ACC p.N143T ADAP1_uc003sjm.3_5'UTR|ADAP1_uc011jvs.1_Missense_Mutation_p.N48T|ADAP1_uc003sjn.3_Missense_Mutation_p.N71T|ADAP1_uc010ksc.2_Missense_Mutation_p.N71T NM_006869 NP_006860 O75689 ADAP1_HUMAN centaurin, alpha 1 143 PH 1. cell surface receptor linked signaling pathway|regulation of ARF GTPase activity cytoplasm|nucleus|plasma membrane ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|protein binding|zinc ion binding upper_aerodigestive_tract(1) 1 AAACTGCCCGTTGTCCCGGCC 0.562000 HIBADH 11112 broad.mit.edu 37 7 27672037 27672037 + Missense_Mutation SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr7:27672037C>T uc003szf.2 - 3 475 c.280G>A c.(280-282)GAA>AAA p.E94K HIBADH_uc003szg.2_Missense_Mutation_p.E45K|HIBADH_uc003szh.2_5'UTR|HIBADH_uc003szi.2_Missense_Mutation_p.E45K NM_152740 NP_689953 P31937 3HIDH_HUMAN 3-hydroxyisobutyrate dehydrogenase precursor 94 branched chain family amino acid catabolic process|pentose-phosphate shunt|valine metabolic process mitochondrial matrix 3-hydroxyisobutyrate dehydrogenase activity|NAD binding|phosphogluconate dehydrogenase (decarboxylating) activity ovary(2) 2 GBM - Glioblastoma multiforme(3;0.0368) NADH(DB00157) TCAGCTTTTTCAGCAACATCT 0.363000 EEPD1 80820 broad.mit.edu 37 7 36194426 36194426 + Missense_Mutation SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr7:36194426C>T uc003tfa.2 + 2 1133 c.493C>T c.(493-495)CGC>TGC p.R165C NM_030636 NP_085139 Q7L9B9 EEPD1_HUMAN endonuclease/exonuclease/phosphatase family 165 DNA repair DNA binding 0 CGTGGACTTCCGCCGTGAGCA 0.607000 C7orf42 55069 broad.mit.edu 37 7 66410149 66410149 + Missense_Mutation SNP A A G TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr7:66410149A>G uc003tvk.2 + 3 610 c.346A>G c.(346-348)ATC>GTC p.I116V C7orf42_uc010lah.2_RNA|C7orf42_uc003tvl.2_Missense_Mutation_p.I116V NM_017994 NP_060464 Q9NWD8 CG042_HUMAN hypothetical protein LOC55069 116 integral to membrane ovary(1) 1 CTCAGTCTCAATCACCCTAAC 0.577000 HGF 3082 broad.mit.edu 37 7 81372669 81372669 + Missense_Mutation SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr7:81372669C>T uc003uhl.2 - 7 1030 c.865G>A c.(865-867)GCT>ACT p.A289T HGF_uc003uhm.2_Missense_Mutation_p.A284T|HGF_uc003uhn.1_Missense_Mutation_p.E289K|HGF_uc003uho.1_Missense_Mutation_p.E284K NM_000601 NP_000592 P14210 HGF_HUMAN hepatocyte growth factor isoform 1 289 epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity ovary(2)|central_nervous_system(2) 4 CTTCACTTACCGCATGTTTTA 0.448000 MGC26647 219557 broad.mit.edu 37 7 88423644 88423644 + Missense_Mutation SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr7:88423644G>A uc003ujv.2 - 2 795 c.613C>T c.(613-615)CCT>TCT p.P205S ZNF804B_uc011khi.1_Intron NM_152706 NP_689919 Q8TBZ9 CG062_HUMAN hypothetical protein LOC219557 205 0 Esophageal squamous(14;0.00802)|all_hematologic(106;0.109)|Lung NSC(181;0.168)|all_lung(186;0.169) STAD - Stomach adenocarcinoma(171;0.229) AGTAGGTCAGGTGCAACTTGG 0.408000 CDHR3 222256 broad.mit.edu 37 7 105658403 105658403 + Missense_Mutation SNP G G C TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr7:105658403G>C uc003vdl.3 + 12 1646 c.1538G>C c.(1537-1539)TGG>TCG p.W513S CDHR3_uc003vdk.2_Intron|CDHR3_uc003vdm.3_Missense_Mutation_p.W500S|CDHR3_uc011klt.1_Missense_Mutation_p.W425S|CDHR3_uc003vdn.2_Intron NM_152750 NP_689963 Q6ZTQ4 CDHR3_HUMAN hypothetical protein LOC222256 precursor 513 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1) 1 AATGTATTTTGGATTAATCCC 0.512000 PIK3CG 5294 broad.mit.edu 37 7 106508257 106508257 + Missense_Mutation SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr7:106508257C>T uc003vdv.3 + 2 336 c.251C>T c.(250-252)GCG>GTG p.A84V PIK3CG_uc003vdu.2_Missense_Mutation_p.A84V|PIK3CG_uc003vdw.2_Missense_Mutation_p.A84V NM_002649 NP_002640 P48736 PK3CG_HUMAN phosphoinositide-3-kinase, catalytic, gamma 84 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1) 38 ACCAGCGTGGCGGCGGACTTC 0.637000 IMPDH1 3614 broad.mit.edu 37 7 128038597 128038597 + Silent SNP G G A rs1042253 TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr7:128038597G>A uc011kol.1 - 7 796 c.690C>T c.(688-690)AAC>AAT p.N230N IMPDH1_uc011kom.1_Silent_p.N225N|IMPDH1_uc003vmt.2_Silent_p.N205N|IMPDH1_uc003vmu.2_Silent_p.N315N|IMPDH1_uc003vmw.2_Silent_p.N305N|IMPDH1_uc011kon.1_Silent_p.N282N|IMPDH1_uc003vmv.2_Silent_p.N279N|IMPDH1_uc003vmx.2_Silent_p.N238N|IMPDH1_uc003vmy.2_Silent_p.N246N NM_001142573 NP_001136045 P20839 IMDH1_HUMAN inosine monophosphate dehydrogenase 1 isoform e 230 CBS 2. GMP biosynthetic process|purine base metabolic process cytosol|nucleus DNA binding|IMP dehydrogenase activity|metal ion binding skin(2)|lung(1)|central_nervous_system(1) 4 Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352) GGTAGTCTCGGTTCTTCTTCA 0.572000 OREG0018292 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) C7orf49 78996 broad.mit.edu 37 7 134852517 134852517 + Silent SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr7:134852517C>T uc003vsl.2 - 3 447 c.180G>A c.(178-180)GAG>GAA p.E60E C7orf49_uc003vsh.2_Intron|C7orf49_uc003vsj.2_Silent_p.E31E|C7orf49_uc003vsk.2_RNA|C7orf49_uc003vsm.2_RNA|C7orf49_uc003vsn.2_Silent_p.E59E|C7orf49_uc003vso.2_Silent_p.E5E NM_024033 NP_076938 Q9BWK5 MRI_HUMAN modulator of retrovirus infection 60 cytoplasm large_intestine(1)|ovary(1) 2 CATCAACTATCTCAGCCTCAT 0.478000 TAS2R4 50832 broad.mit.edu 37 7 141478883 141478883 + Missense_Mutation SNP C C A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr7:141478883C>A uc003vwq.1 + 1 595 c.595C>A c.(595-597)CTA>ATA p.L199I NM_016944 NP_058640 Q9NYW5 TA2R4_HUMAN taste receptor T2R4 199 Cytoplasmic (Potential). sensory perception of taste cilium membrane taste receptor activity 0 Melanoma(164;0.0171) BRCA - Breast invasive adenocarcinoma(188;0.196) TGCTTCCTTGCTAATACACTC 0.423000 SHH 6469 broad.mit.edu 37 7 155596246 155596246 + Missense_Mutation SNP T T C TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr7:155596246T>C uc003wmk.1 - 3 888 c.737A>G c.(736-738)GAC>GGC p.D246G SHH_uc003wmh.1_Intron|SHH_uc003wmi.1_Intron|SHH_uc003wmj.1_Missense_Mutation_p.D159G NM_000193 NP_000184 Q15465 SHH_HUMAN sonic hedgehog preproprotein 246 androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development cell surface|extracellular space|membrane raft|plasma membrane calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding central_nervous_system(3)|lung(1) 4 all_neural(206;0.101) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.00882) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CTTGGCGCCGTCGTCGCGGTC 0.687000 PTPRN2 5799 broad.mit.edu 37 7 157874021 157874021 + Silent SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr7:157874021G>A uc003wno.2 - 11 1813 c.1692C>T c.(1690-1692)AAC>AAT p.N564N PTPRN2_uc003wnp.2_Silent_p.N547N|PTPRN2_uc003wnq.2_Silent_p.N535N|PTPRN2_uc003wnr.2_Silent_p.N526N|PTPRN2_uc011kwa.1_Silent_p.N587N NM_002847 NP_002838 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N 564 Extracellular (Potential). integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity ovary(4)|large_intestine(1)|pleura(1)|skin(1) 7 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) CAGTGGTCACGTTTTGGACAT 0.363000 RP1 6101 broad.mit.edu 37 8 55534700 55534700 + Silent SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr8:55534700C>T uc003xsd.1 + 3 787 c.639C>T c.(637-639)ATC>ATT p.I213I RP1_uc011ldy.1_Silent_p.I213I NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 213 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) AGGCAGTGATCCTGAGCTCTG 0.438000 RP1 6101 broad.mit.edu 37 8 55539117 55539117 + Missense_Mutation SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr8:55539117C>T uc003xsd.1 + 4 2823 c.2675C>T c.(2674-2676)GCA>GTA p.A892V RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 892 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) ACAACCAGGGCAAATTCTTTA 0.333000 CHD7 55636 broad.mit.edu 37 8 61765949 61765949 + Missense_Mutation SNP A A G TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr8:61765949A>G uc003xue.2 + 31 7142 c.6665A>G c.(6664-6666)GAG>GGG p.E2222G NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 2222 Glu-rich. central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1) 9 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) AAAGGTGTTGAGGTCGGCGCA 0.502000 MTFR1 9650 broad.mit.edu 37 8 66631645 66631645 + Missense_Mutation SNP G G A rs143063031 TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr8:66631645G>A uc003xvo.1 + 7 1044 c.934G>A c.(934-936)GTG>ATG p.V312M PDE7A_uc003xvq.2_Silent_p.H443H|PDE7A_uc003xvp.2_Silent_p.H417H NM_014637 NP_055452 Q15390 MTFR1_HUMAN mitochondrial fission regulator 1 isoform 1 Error:Variant_position_missing_in_Q15390_after_alignment mitochondrion|plasma membrane pancreas(1) 1 Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194) TCAGCCCCACGTGTCCAAGCA 0.458000 DNAJC5B 85479 broad.mit.edu 37 8 66989024 66989024 + Silent SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr8:66989024C>T uc003xvs.1 + 4 540 c.249C>T c.(247-249)TAC>TAT p.Y83Y DNAJC5B_uc003xvt.1_RNA NM_033105 NP_149096 Q9UF47 DNJ5B_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 5 83 J. protein folding membrane heat shock protein binding|unfolded protein binding 0 Lung NSC(129;0.114)|all_lung(136;0.188) Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112) ACGACAAGTACGGATCGCTGG 0.463000 TRIM55 84675 broad.mit.edu 37 8 67049353 67049353 + Silent SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr8:67049353C>T uc003xvv.2 + 4 757 c.531C>T c.(529-531)GCC>GCT p.A177A TRIM55_uc003xvu.2_Silent_p.A177A|TRIM55_uc003xvw.2_Silent_p.A177A|TRIM55_uc003xvx.2_Silent_p.A177A NM_184085 NP_908973 Q9BYV6 TRI55_HUMAN tripartite motif-containing 55 isoform 1 177 Potential. cytoplasm|microtubule|nucleus signal transducer activity|zinc ion binding skin(3)|ovary(1)|central_nervous_system(1) 5 Lung NSC(129;0.138)|all_lung(136;0.221) Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) ATGGCATCGCCATCCTCGTGG 0.507000 ZFHX4 79776 broad.mit.edu 37 8 77765033 77765033 + Missense_Mutation SNP T T G TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr8:77765033T>G uc003yav.2 + 10 6128 c.5741T>G c.(5740-5742)CTT>CGT p.L1914R ZFHX4_uc003yau.1_Missense_Mutation_p.L1959R|ZFHX4_uc003yaw.1_Missense_Mutation_p.L1914R NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 1914 C2H2-type 14. 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) TCCAATGTTCTTATTTTAAAG 0.398000 HNSCC(33;0.089) CA13 377677 broad.mit.edu 37 8 86171655 86171655 + Missense_Mutation SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr8:86171655C>T uc003ydg.2 + 3 583 c.241C>T c.(241-243)CGT>TGT p.R81C CA13_uc003ydf.1_RNA NM_198584 NP_940986 Q8N1Q1 CAH13_HUMAN carbonic anhydrase XIII 81 one-carbon metabolic process carbonate dehydratase activity|zinc ion binding 0 TTTAGTTCTGCGTGGTGGTCC 0.458000 SLC26A7 115111 broad.mit.edu 37 8 92352728 92352728 + Silent SNP T T C TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr8:92352728T>C uc003yex.2 + 9 1253 c.975T>C c.(973-975)GCT>GCC p.A325A SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Silent_p.A325A|SLC26A7_uc003yfa.2_Silent_p.A325A NM_052832 NP_439897 Q8TE54 S26A7_HUMAN solute carrier family 26, member 7 isoform a 325 Helical; (Potential). basolateral plasma membrane|integral to membrane|recycling endosome membrane anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(11;0.00802) CCTCACTGGCTCTTGCTCAAG 0.502000 KCNK9 51305 broad.mit.edu 37 8 140630698 140630698 + Missense_Mutation SNP G G A rs145490321 TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr8:140630698G>A uc003yvf.1 - 2 992 c.928C>T c.(928-930)CGC>TGC p.R310C KCNK9_uc003yvg.1_Missense_Mutation_p.R310C|KCNK9_uc003yve.1_RNA NM_016601 NP_057685 Q9NPC2 KCNK9_HUMAN potassium channel, subfamily K, member 9 310 Cytoplasmic (Potential). integral to membrane|membrane fraction potassium channel activity|voltage-gated ion channel activity ovary(2)|lung(1) 3 all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;0.134) BRCA - Breast invasive adenocarcinoma(115;0.0855) GCCACCGAGCGGCCGCCATAG 0.622000 OR13C4 138804 broad.mit.edu 37 9 107289090 107289090 + Missense_Mutation SNP A A G TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr9:107289090A>G uc011lvn.1 - 1 401 c.401T>C c.(400-402)ATC>ACC p.I134T NM_001001919 NP_001001919 Q8NGS5 O13C4_HUMAN olfactory receptor, family 13, subfamily C, 134 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 GTTCATGATGATGGGGTATCT 0.453000 OR13D1 286365 broad.mit.edu 37 9 107457263 107457263 + Silent SNP C C A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr9:107457263C>A uc011lvs.1 + 1 561 c.561C>A c.(559-561)ACC>ACA p.T187T NM_001004484 NP_001004484 Q8NGV5 O13D1_HUMAN olfactory receptor, family 13, subfamily D, 187 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 GCTGTCTGACCTCCCTATTGC 0.438000 SURF2 6835 broad.mit.edu 37 9 136227269 136227269 + Missense_Mutation SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr9:136227269G>A uc004cdi.2 + 5 694 c.646G>A c.(646-648)GAG>AAG p.E216K NM_017503 NP_059973 Q15527 SURF2_HUMAN surfeit 2 216 protein binding 0 OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05) GAGCAGGAGAGAGACGACCGT 0.552000 SEC16A 9919 broad.mit.edu 37 9 139342536 139342536 + Silent SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr9:139342536C>T uc004chx.2 - 24 6699 c.6390G>A c.(6388-6390)TCG>TCA p.S2130S SEC16A_uc004chp.2_5'Flank|SEC16A_uc004chq.2_5'Flank|SEC16A_uc011mea.1_5'Flank|SEC16A_uc004chr.2_Silent_p.S136S|SEC16A_uc004chs.2_5'UTR|SEC16A_uc004cht.2_Silent_p.S161S|SEC16A_uc004chu.2_Silent_p.S315S|SEC16A_uc004chv.3_Silent_p.S1520S|SEC16A_uc004chw.2_Silent_p.S2130S|SEC16A_uc010nbn.2_Silent_p.S2130S NM_014866 NP_055681 O15027 SC16A_HUMAN SEC16 homolog A 1952 Required for interaction with SEC23A.|Pro-rich. protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane 0 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) CAGCACTCACCGATTTGTTCT 0.388000 SHROOM2 357 broad.mit.edu 37 X 9905182 9905182 + Missense_Mutation SNP G G A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chrX:9905182G>A uc004csu.1 + 7 3686 c.3596G>A c.(3595-3597)CGG>CAG p.R1199Q SHROOM2_uc004csv.2_Missense_Mutation_p.R34Q|SHROOM2_uc011mic.1_Missense_Mutation_p.R34Q|SHROOM2_uc004csw.1_Missense_Mutation_p.R34Q NM_001649 NP_001640 Q13796 SHRM2_HUMAN apical protein of Xenopus-like 1199 apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization apical plasma membrane|cell-cell adherens junction|microtubule|tight junction actin filament binding|beta-catenin binding|ligand-gated sodium channel activity ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1) 8 Hepatocellular(5;0.000888) AGAATTGAGCGGGTGATGGAC 0.582000 PHKA2 5256 broad.mit.edu 37 X 18926989 18926989 + Missense_Mutation SNP C C G TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chrX:18926989C>G uc004cyv.3 - 21 2720 c.2290G>C c.(2290-2292)GTT>CTT p.V764L PHKA2_uc004cyu.3_Missense_Mutation_p.V62L NM_000292 NP_000283 P46019 KPB2_HUMAN phosphorylase kinase, alpha 2 (liver) 764 glucose metabolic process|glycogen catabolic process cytosol|phosphorylase kinase complex|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity ovary(1)|central_nervous_system(1) 2 Hepatocellular(33;0.183) AGCTGCTCAACCAGCTTCTCA 0.403000 CXorf58 254158 broad.mit.edu 37 X 23953497 23953497 + Missense_Mutation SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chrX:23953497C>T uc004daz.1 + 7 1084 c.740C>T c.(739-741)ACG>ATG p.T247M CXorf58_uc011mju.1_Missense_Mutation_p.T247M NM_152761 NP_689974 Q96LI9 CX058_HUMAN hypothetical protein LOC254158 247 0 AGACCAGTAACGCAAGAGATC 0.368000 CCNB3 85417 broad.mit.edu 37 X 50051783 50051783 + Missense_Mutation SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chrX:50051783C>T uc004dox.3 + 6 912 c.614C>T c.(613-615)GCG>GTG p.A205V CCNB3_uc004doy.2_Missense_Mutation_p.A205V|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron NM_033031 NP_149020 Q8WWL7 CCNB3_HUMAN cyclin B3 isoform 3 205 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding ovary(4)|lung(3)|large_intestine(1)|pancreas(1) 9 Ovarian(276;0.236) AGTGATGATGCGTTTGTTATA 0.403000 RAB40A 142684 broad.mit.edu 37 X 102755046 102755046 + Silent SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chrX:102755046C>T uc004ekk.2 - 3 981 c.639G>A c.(637-639)CCG>CCA p.P213P NM_080879 NP_543155 Q8WXH6 RB40A_HUMAN RAB40A, member RAS oncogene family 213 SOCS box. protein transport|small GTPase mediated signal transduction plasma membrane GTP binding 0 TACTGGGGAGCGGGAGCTTGT 0.587000 ZIC3 7547 broad.mit.edu 37 X 136652214 136652214 + Missense_Mutation SNP C C A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chrX:136652214C>A uc004fak.2 + 3 1894 c.1389C>A c.(1387-1389)AAC>AAA p.N463K NM_003413 NP_003404 O60481 ZIC3_HUMAN zinc finger protein of the cerebellum 3 463 cell differentiation|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|breast(1) 3 Acute lymphoblastic leukemia(192;0.000127) CTAATTTTAACGAATGGTACG 0.403000 PLXNB3 5365 broad.mit.edu 37 X 153036318 153036318 + Missense_Mutation SNP C C T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chrX:153036318C>T uc004fii.2 + 11 2290 c.2116C>T c.(2116-2118)CGG>TGG p.R706W PLXNB3_uc011mzb.1_Intron|PLXNB3_uc011mzc.1_Missense_Mutation_p.R388W|PLXNB3_uc010nuk.2_Missense_Mutation_p.R729W|PLXNB3_uc011mzd.1_Missense_Mutation_p.R345W NM_005393 NP_005384 Q9ULL4 PLXB3_HUMAN plexin B3 isoform 1 706 Extracellular (Potential). axon guidance integral to membrane|intracellular|plasma membrane protein binding|receptor activity lung(1) 1 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) CCTACGCGTGCGGAACCTTCA 0.642000 HIVEP3 59269 broad.mit.edu 37 1 41990510 41990511 + Frame_Shift_Ins INS - - C TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr1:41990509_41990510T>TC uc001cgz.4 - 5 6492_6493 c.5279_5280A>GA c.(5278-5280)ggafs p.G1760fs HIVEP3_uc001cha.4_Frame_Shift_Ins_p.G1760fs|HIVEP3_uc001cgy.3_Intron NM_024503 NP_078779 Q5T1R4 ZEP3_HUMAN Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA. 1760 ZAS2. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) TGCAGCGAATTCCACACTCCTC 0.495 MAGI3 260425 broad.mit.edu 37 1 114133188 114133189 + Frame_Shift_Ins INS - - A TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr1:114133187_114133188T>TA uc001edk.3 + 4 1026_1027 c.845_846T>TA c.(844-846)tttfs p.F282fs MAGI3_uc001edh.3_Frame_Shift_Ins_p.F282fs|MAGI3_uc001edi.4_Frame_Shift_Ins_p.F282fs|MAGI3_uc010owm.2_Frame_Shift_Ins_p.F282fs|MAGI3_uc001edj.3_Frame_Shift_Ins_p.F3fs NM_001142782 NP_001136254 Q5TCQ9 MAGI3_HUMAN Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 3 (MAGI3), transcript variant 1, mRNA. 282 Guanylate kinase-like. apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TCCATGGACTTTAGAAATTATA 0.416 HBP1 26959 broad.mit.edu 37 7 106836508 106836508 + Frame_Shift_Del DEL A A - TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr7:106836507_106836507TA>T uc003vdy.3 + 8 1482 c.1296_1296TA>T c.(1294-1296)aatfs p.N432fs HBP1_uc011klv.2_Frame_Shift_Del_p.N442fs|HBP1_uc003vdz.3_Frame_Shift_Del_p.N432fs|HBP1_uc003vea.3_Frame_Shift_Del_p.N432fs|HBP1_uc003veb.1_Frame_Shift_Del_p.N432fs NM_012257 NP_036389 O60381 HBP1_HUMAN Homo sapiens HMG-box transcription factor 1 (HBP1), transcript variant 2, mRNA. 432 Wnt receptor signaling pathway|cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding large_intestine(4)|lung(3)|prostate(1)|skin(2) 10 CTTCTCCTAATAAGTGCAAAA 0.403 ZNF160 90338 broad.mit.edu 37 19 53571594 53571595 + Frame_Shift_Ins INS - - T TCGA-CD-5800-01A-11D-1600-08 TCGA-CD-5800-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4438b658-ee94-44a8-9623-8cc28409bd05 9e13e9e2-7455-414a-bf94-70929fe16f6b g.chr19:53571593_53571594G>GT uc010eqk.3 - 6 2609_2610 c.2193_2194C>AC c.(2191-2196)aaacctfs p.K731fs ZNF160_uc002qaq.4_Frame_Shift_Ins_p.K731fs|ZNF160_uc002qar.4_Frame_Shift_Ins_p.K731fs NM_001102603 NP_942596 Q9HCG1 ZN160_HUMAN Homo sapiens zinc finger protein 160 (ZNF160), transcript variant 3, mRNA. 731 hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 35 GBM - Glioblastoma multiforme(134;0.02) CATTTGTAAGGTTTTTTCCCAG 0.450