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 CPSF3L 54973 broad.mit.edu 37 1 1249704 1249704 + Silent SNP G C C TCGA-06-0650-01A-02D-1696-08 TCGA-06-0650-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 89af56db-b7f9-41d2-af62-c9b2ee7b540f ed56d74a-781d-4408-9adc-9bfcfbe34585 g.chr1:1249704G>C uc001aee.1 - 8 802 c.744C>G c.(742-744)CTC>CTG p.L248L CPSF3L_uc009vjy.1_RNA|CPSF3L_uc001aef.1_Silent_p.L254L|CPSF3L_uc009vjz.1_Silent_p.L226L|CPSF3L_uc010nyj.1_Silent_p.L219L|CPSF3L_uc001aeg.1_Silent_p.L124L|CPSF3L_uc001aeh.1_Silent_p.L147L|CPSF3L_uc001aei.1_Silent_p.L150L|CPSF3L_uc001aej.1_Silent_p.L75L|CPSF3L_uc001aek.1_5'UTR NM_017871 NP_060341 Q5TA45 INT11_HUMAN cleavage and polyadenylation specific factor 248 Golgi apparatus|nucleus hydrolase activity 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201) GGAGGATGCAGAGCTCCTGGG 0.667 THEM5 284486 broad.mit.edu 37 1 151820732 151820732 + Silent SNP G A A TCGA-06-0650-01A-02D-1696-08 TCGA-06-0650-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 89af56db-b7f9-41d2-af62-c9b2ee7b540f ed56d74a-781d-4408-9adc-9bfcfbe34585 g.chr1:151820732G>A uc009wnd.2 - 4 633 c.501C>T c.(499-501)GAC>GAT p.D167D NM_182578 NP_872384 Q8N1Q8 THEM5_HUMAN thioesterase superfamily member 5 167 hydrolase activity ovary(1)|skin(1) 2 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) AAAAGGTCTCGTCCATCATGG 0.587 MUC2 4583 broad.mit.edu 37 11 1096432 1096432 + Missense_Mutation SNP G A A TCGA-06-0650-01A-02D-1696-08 TCGA-06-0650-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 89af56db-b7f9-41d2-af62-c9b2ee7b540f ed56d74a-781d-4408-9adc-9bfcfbe34585 g.chr11:1096432G>A uc001lsx.1 + 37 13570 c.13543G>A c.(13543-13545)GTG>ATG p.V4515M NM_002457 NP_002448 Q02817 MUC2_HUMAN mucin 2 precursor 4515 VWFD 4. inner mucus layer|outer mucus layer protein binding lung(1)|breast(1) 2 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) CAGCCCCTCCGTGGACAACTT 0.607 PTPRJ 5795 broad.mit.edu 37 11 48145364 48145364 + Silent SNP G A A TCGA-06-0650-01A-02D-1696-08 TCGA-06-0650-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 89af56db-b7f9-41d2-af62-c9b2ee7b540f ed56d74a-781d-4408-9adc-9bfcfbe34585 g.chr11:48145364G>A uc001ngp.3 + 5 1171 c.816G>A c.(814-816)CCG>CCA p.P272P PTPRJ_uc001ngo.3_Silent_p.P272P NM_002843 NP_002834 Q12913 PTPRJ_HUMAN protein tyrosine phosphatase, receptor type, J 272 Extracellular (Potential).|Fibronectin type-III 2.|Fibronectin type-III 3. contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity breast(3)|kidney(3)|ovary(1)|skin(1) 8 ACATCAACCCGTATCTTCTAC 0.473 SPDYC 387778 broad.mit.edu 37 11 64939756 64939756 + Missense_Mutation SNP C A A TCGA-06-0650-01A-02D-1696-08 TCGA-06-0650-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 89af56db-b7f9-41d2-af62-c9b2ee7b540f ed56d74a-781d-4408-9adc-9bfcfbe34585 g.chr11:64939756C>A uc010rnz.1 + 4 298 c.298C>A c.(298-300)CAC>AAC p.H100N NM_001008778 NP_001008778 Q5MJ68 SPDYC_HUMAN speedy C 100 Speedy/Ringo box; Required for CDK- binding (By similarity). cell cycle nucleus protein kinase binding 0 CCAGCGCGCCCACCTGAAGCT 0.597 INTS4 92105 broad.mit.edu 37 11 77632412 77632412 + Missense_Mutation SNP G C C TCGA-06-0650-01A-02D-1696-08 TCGA-06-0650-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 89af56db-b7f9-41d2-af62-c9b2ee7b540f ed56d74a-781d-4408-9adc-9bfcfbe34585 g.chr11:77632412G>C uc001oys.2 - 14 1766 c.1738C>G c.(1738-1740)CTT>GTT p.L580V INTS4_uc001oyt.2_RNA NM_033547 NP_291025 Q96HW7 INT4_HUMAN integrator complex subunit 4 580 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) AGATGAGAAAGACTGTCTCGG 0.393 PARP4 143 broad.mit.edu 37 13 25009059 25009059 + Missense_Mutation SNP C T T TCGA-06-0650-01A-02D-1696-08 TCGA-06-0650-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 89af56db-b7f9-41d2-af62-c9b2ee7b540f ed56d74a-781d-4408-9adc-9bfcfbe34585 g.chr13:25009059C>T uc001upl.2 - 31 4326 c.4220G>A c.(4219-4221)AGC>AAC p.S1407N NM_006437 NP_006428 Q9UKK3 PARP4_HUMAN poly (ADP-ribose) polymerase family, member 4 1407 cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity ovary(3)|skin(1) 4 all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195) CTGTGCAGAGCTTAATGAGCT 0.542 GABRB3 2562 broad.mit.edu 37 15 26792999 26792999 + Missense_Mutation SNP C T T TCGA-06-0650-01A-02D-1696-08 TCGA-06-0650-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 89af56db-b7f9-41d2-af62-c9b2ee7b540f ed56d74a-781d-4408-9adc-9bfcfbe34585 g.chr15:26792999C>T uc001zaz.2 - 9 1505 c.1363G>A c.(1363-1365)GTG>ATG p.V455M GABRB3_uc010uae.1_Missense_Mutation_p.V370M|GABRB3_uc001zba.2_Missense_Mutation_p.V455M|GABRB3_uc001zbb.2_Missense_Mutation_p.V511M NM_000814 NP_000805 P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 455 Helical; (Probable). synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1) 5 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) AATGGAAACACGATCCTGGAC 0.398 UNC13C 440279 broad.mit.edu 37 15 54305644 54305644 + Nonsense_Mutation SNP C T T TCGA-06-0650-01A-02D-1696-08 TCGA-06-0650-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 89af56db-b7f9-41d2-af62-c9b2ee7b540f ed56d74a-781d-4408-9adc-9bfcfbe34585 g.chr15:54305644C>T uc002ack.2 + 1 544 c.544C>T c.(544-546)CGA>TGA p.R182* NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 182 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) GGGAGCTTTACGAAAACTGAG 0.458 IRF8 3394 broad.mit.edu 37 16 85952286 85952286 + Missense_Mutation SNP G A A TCGA-06-0650-01A-02D-1696-08 TCGA-06-0650-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 89af56db-b7f9-41d2-af62-c9b2ee7b540f ed56d74a-781d-4408-9adc-9bfcfbe34585 g.chr16:85952286G>A uc002fjh.2 + 7 922 c.865G>A c.(865-867)GTC>ATC p.V289I IRF8_uc010chp.2_Intron NM_002163 NP_002154 Q02556 IRF8_HUMAN interferon regulatory factor 8 289 interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway nucleus DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity breast(2)|ovary(1) 3 Prostate(104;0.0771) GGGCGTGTTCGTCAAGCGGCT 0.677 MYH2 4620 broad.mit.edu 37 17 10429979 10429979 + Missense_Mutation SNP G C C TCGA-06-0650-01A-02D-1696-08 TCGA-06-0650-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 89af56db-b7f9-41d2-af62-c9b2ee7b540f ed56d74a-781d-4408-9adc-9bfcfbe34585 g.chr17:10429979G>C uc010coi.2 - 30 4252 c.4124C>G c.(4123-4125)GCC>GGC p.A1375G uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.A1375G|MYH2_uc010coj.2_Intron NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 1375 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 CCTCCATTGGGCAACCTCGGT 0.567 NPTX1 4884 broad.mit.edu 37 17 78447110 78447110 + Missense_Mutation SNP C T T TCGA-06-0650-01A-02D-1696-08 TCGA-06-0650-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 89af56db-b7f9-41d2-af62-c9b2ee7b540f ed56d74a-781d-4408-9adc-9bfcfbe34585 g.chr17:78447110C>T uc002jyp.1 - 3 945 c.787G>A c.(787-789)GCC>ACC p.A263T NM_002522 NP_002513 Q15818 NPTX1_HUMAN neuronal pentraxin I precursor 263 Pentaxin. central nervous system development|synaptic transmission|transport transport vesicle metal ion binding 0 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487) CCTGGCGTGGCGCTGGACTTG 0.587 APC2 10297 broad.mit.edu 37 19 1465389 1465389 + Missense_Mutation SNP C T T TCGA-06-0650-01A-02D-1696-08 TCGA-06-0650-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 89af56db-b7f9-41d2-af62-c9b2ee7b540f ed56d74a-781d-4408-9adc-9bfcfbe34585 g.chr19:1465389C>T uc002lsr.1 + 15 2297 c.2089C>T c.(2089-2091)CAT>TAT p.H697Y APC2_uc002lss.1_Missense_Mutation_p.H279Y|APC2_uc002lst.1_Missense_Mutation_p.H697Y|APC2_uc002lsu.1_Missense_Mutation_p.H696Y|C19orf25_uc010xgn.1_Intron NM_005883 NP_005874 O95996 APC2_HUMAN adenomatosis polyposis coli 2 697 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm beta-catenin binding|microtubule binding breast(3)|pancreas(1) 4 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCTGCTGGCCCATCGGCCCGC 0.716 PLIN4 729359 broad.mit.edu 37 19 4512541 4512541 + Silent SNP C T T rs139885054 by1000genomes TCGA-06-0650-01A-02D-1696-08 TCGA-06-0650-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 89af56db-b7f9-41d2-af62-c9b2ee7b540f ed56d74a-781d-4408-9adc-9bfcfbe34585 g.chr19:4512541C>T uc002mar.1 - 3 1389 c.1389G>A c.(1387-1389)GCG>GCA p.A463A PLIN4_uc010dub.1_5'Flank NM_001080400 NP_001073869 Q96Q06 PLIN4_HUMAN plasma membrane associated protein, S3-12 463 27 X 33 AA approximate tandem repeat.|12. lipid particle|plasma membrane 0 TGGCCACATTCGCAGCACCGG 0.577 CD209 30835 broad.mit.edu 37 19 7810925 7810925 + Missense_Mutation SNP G A A TCGA-06-0650-01A-02D-1696-08 TCGA-06-0650-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 89af56db-b7f9-41d2-af62-c9b2ee7b540f ed56d74a-781d-4408-9adc-9bfcfbe34585 g.chr19:7810925G>A uc002mht.2 - 4 294 c.227C>T c.(226-228)GCG>GTG p.A76V CD209_uc010xju.1_Missense_Mutation_p.A76V|CD209_uc010dvp.2_Missense_Mutation_p.A52V|CD209_uc002mhr.2_Missense_Mutation_p.A52V|CD209_uc002mhs.2_Missense_Mutation_p.A52V|CD209_uc002mhu.2_Missense_Mutation_p.A76V|CD209_uc010dvq.2_Missense_Mutation_p.A76V|CD209_uc002mhq.2_Missense_Mutation_p.A76V|CD209_uc002mhv.2_Missense_Mutation_p.A52V|CD209_uc002mhx.2_Missense_Mutation_p.A32V|CD209_uc002mhw.2_Missense_Mutation_p.A32V|CD209_uc010dvr.2_Intron NM_021155 NP_066978 Q9NNX6 CD209_HUMAN CD209 molecule isoform 1 76 Extracellular (Probable). cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to membrane|plasma membrane mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding skin(1) 1 CTGGTAGATCGCGTCTTGCCT 0.458 HNRNPL 3191 broad.mit.edu 37 19 39330868 39330868 + Silent SNP T G G TCGA-06-0650-01A-02D-1696-08 TCGA-06-0650-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 89af56db-b7f9-41d2-af62-c9b2ee7b540f ed56d74a-781d-4408-9adc-9bfcfbe34585 g.chr19:39330868T>G uc010xul.1 - 8 1112 c.1101A>C c.(1099-1101)CCA>CCC p.P367P HNRNPL_uc010ege.1_Silent_p.P23P|HNRNPL_uc002ojj.1_Silent_p.P23P|HNRNPL_uc002ojo.1_5'Flank|HNRNPL_uc002ojk.2_Silent_p.P23P|HNRNPL_uc002ojl.2_Silent_p.P23P|HNRNPL_uc010xum.1_Silent_p.P234P|HNRNPL_uc002ojp.1_Silent_p.P23P|HNRNPL_uc010xun.1_Missense_Mutation_p.H75P NM_001533 NP_001524 P14866 HNRPL_HUMAN heterogeneous nuclear ribonucleoprotein L 367 Pro-rich. 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) GGGGAGGGGGTGGGGGGTGCC 0.642 FCGBP 8857 broad.mit.edu 37 19 40432968 40432968 + Missense_Mutation SNP C T T rs142198641 byFrequency TCGA-06-0650-01A-02D-1696-08 TCGA-06-0650-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 89af56db-b7f9-41d2-af62-c9b2ee7b540f ed56d74a-781d-4408-9adc-9bfcfbe34585 g.chr19:40432968C>T uc002omp.3 - 2 1309 c.1301G>A c.(1300-1302)CGG>CAG p.R434Q NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 434 IgGFc-binding. extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) TTACTTACTCCGGCCGCAATC 0.587 NLRP5 126206 broad.mit.edu 37 19 56539808 56539808 + Missense_Mutation SNP C T T TCGA-06-0650-01A-02D-1696-08 TCGA-06-0650-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 89af56db-b7f9-41d2-af62-c9b2ee7b540f ed56d74a-781d-4408-9adc-9bfcfbe34585 g.chr19:56539808C>T uc002qmj.2 + 7 2209 c.2209C>T c.(2209-2211)CGG>TGG p.R737W NLRP5_uc002qmi.2_Missense_Mutation_p.R718W NM_153447 NP_703148 P59047 NALP5_HUMAN NACHT, LRR and PYD containing protein 5 737 LRR 2. mitochondrion|nucleolus ATP binding ovary(3)|skin(2)|kidney(1)|central_nervous_system(1) 7 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) GCGGAAAATTCGGGTGGATGT 0.498 HNRPLL 92906 broad.mit.edu 37 2 38812883 38812883 + Frame_Shift_Del DEL C - - TCGA-06-0650-01A-02D-1696-08 TCGA-06-0650-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 89af56db-b7f9-41d2-af62-c9b2ee7b540f ed56d74a-781d-4408-9adc-9bfcfbe34585 g.chr2:38812883delC uc002rqw.2 - 3 859 c.449delG c.(448-450)AGCfs p.S150fs HNRPLL_uc002rqx.2_Frame_Shift_Del_p.S145fs NM_138394 NP_612403 Q8WVV9 HNRLL_HUMAN heterogeneous nuclear ribonucleoprotein L-like 150 RRM 1. mRNA processing|positive regulation of RNA splicing nucleus|ribonucleoprotein complex mRNA binding|nucleotide binding|protein binding skin(1) 1 all_hematologic(82;0.248) GATCCTTTTGCTTGTAGAATA 0.408 C2orf89 129293 broad.mit.edu 37 2 85051124 85051124 + Missense_Mutation SNP C A A TCGA-06-0650-01A-02D-1696-08 TCGA-06-0650-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 89af56db-b7f9-41d2-af62-c9b2ee7b540f ed56d74a-781d-4408-9adc-9bfcfbe34585 g.chr2:85051124C>A uc010ysl.1 - 6 1376 c.1287G>T c.(1285-1287)AGG>AGT p.R429S C2orf89_uc002sou.3_Missense_Mutation_p.R380S NM_001080824 NP_001074293 Q86V40 CB089_HUMAN hypothetical protein LOC129293 precursor 429 Extracellular (Potential). integral to membrane ovary(1) 1 GGAGTCGCGGCCTCCGCTGTG 0.652 TSHZ2 128553 broad.mit.edu 37 20 51870755 51870755 + Missense_Mutation SNP C T T rs141985599 TCGA-06-0650-01A-02D-1696-08 TCGA-06-0650-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 89af56db-b7f9-41d2-af62-c9b2ee7b540f ed56d74a-781d-4408-9adc-9bfcfbe34585 g.chr20:51870755C>T uc002xwo.2 + 2 1714 c.758C>T c.(757-759)ACG>ATG p.T253M NM_173485 NP_775756 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 253 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|haematopoietic_and_lymphoid_tissue(1) 6 STAD - Stomach adenocarcinoma(23;0.1) CTCAGACCCACGAGCTATTCA 0.488 CASR 846 broad.mit.edu 37 3 121976021 121976021 + Silent SNP G A A TCGA-06-0650-01A-02D-1696-08 TCGA-06-0650-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 89af56db-b7f9-41d2-af62-c9b2ee7b540f ed56d74a-781d-4408-9adc-9bfcfbe34585 g.chr3:121976021G>A uc003eev.3 + 3 651 c.279G>A c.(277-279)CTG>CTA p.L93L CASR_uc003eew.3_Silent_p.L93L NM_000388 NP_000379 P41180 CASR_HUMAN calcium-sensing receptor precursor 93 Extracellular (Potential). anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity ovary(4)|skin(2)|upper_aerodigestive_tract(1) 7 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) ACTTGACGCTGGGATACAGGA 0.448 RBM47 54502 broad.mit.edu 37 4 40440364 40440364 + Missense_Mutation SNP C T T TCGA-06-0650-01A-02D-1696-08 TCGA-06-0650-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 89af56db-b7f9-41d2-af62-c9b2ee7b540f ed56d74a-781d-4408-9adc-9bfcfbe34585 g.chr4:40440364C>T uc003gvc.2 - 4 1257 c.547G>A c.(547-549)GTC>ATC p.V183I RBM47_uc003gvd.2_Missense_Mutation_p.V183I|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Missense_Mutation_p.V145I|RBM47_uc003gvg.1_Missense_Mutation_p.V183I NM_001098634 NP_001092104 A0AV96 RBM47_HUMAN RNA binding motif protein 47 isoform a 183 RRM 2. nucleus nucleotide binding|RNA binding breast(3) 3 CTGGCGTAGACGATCACGTCC 0.637 CSN1S1 1446 broad.mit.edu 37 4 70810660 70810660 + Silent SNP C T T TCGA-06-0650-01A-02D-1696-08 TCGA-06-0650-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 89af56db-b7f9-41d2-af62-c9b2ee7b540f ed56d74a-781d-4408-9adc-9bfcfbe34585 g.chr4:70810660C>T uc003hep.1 + 15 544 c.495C>T c.(493-495)TCC>TCT p.S165S CSN1S1_uc003heq.1_Silent_p.S156S|CSN1S1_uc003her.1_Silent_p.S157S NM_001890 NP_001881 P47710 CASA1_HUMAN casein alpha s1 isoform 1 165 extracellular region protein binding|transporter activity 0 CACCGTTTTCCGACATCTCCA 0.423 FRAS1 80144 broad.mit.edu 37 4 79396642 79396642 + Missense_Mutation SNP C T T TCGA-06-0650-01A-02D-1696-08 TCGA-06-0650-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 89af56db-b7f9-41d2-af62-c9b2ee7b540f ed56d74a-781d-4408-9adc-9bfcfbe34585 g.chr4:79396642C>T uc003hlb.2 + 54 8173 c.7733C>T c.(7732-7734)ACT>ATT p.T2578I NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 2577 Calx-beta 1.|Extracellular (Potential). cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 GTGCAGAGGACTGGGAACCTG 0.542 SDHAP3 728609 broad.mit.edu 37 5 1593264 1593264 + Missense_Mutation SNP C T T rs111700178 by1000genomes TCGA-06-0650-01A-02D-1696-08 TCGA-06-0650-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 89af56db-b7f9-41d2-af62-c9b2ee7b540f ed56d74a-781d-4408-9adc-9bfcfbe34585 g.chr5:1593264C>T uc010itg.1 - 2 273 c.196G>A c.(196-198)GCA>ACA p.A66T SDHAP3_uc011cme.1_RNA Homo sapiens cDNA clone IMAGE:40127561. 0 AGGGCACATGCCTGACCAAAG 0.552 FBN2 2201 broad.mit.edu 37 5 127800505 127800505 + Silent SNP C T T rs150087436 byFrequency TCGA-06-0650-01A-02D-1696-08 TCGA-06-0650-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 89af56db-b7f9-41d2-af62-c9b2ee7b540f ed56d74a-781d-4408-9adc-9bfcfbe34585 g.chr5:127800505C>T uc003kuu.2 - 6 1177 c.738G>A c.(736-738)GCG>GCA p.A246A FBN2_uc003kuv.2_Silent_p.A213A|FBN2_uc003kuw.3_Silent_p.A246A|FBN2_uc003kux.1_Silent_p.A246A NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 246 TB 1. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) GATGGCCCCACGCCCGTCCAA 0.607 ABLIM3 22885 broad.mit.edu 37 5 148637907 148637907 + Missense_Mutation SNP G C C TCGA-06-0650-01A-02D-1696-08 TCGA-06-0650-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 89af56db-b7f9-41d2-af62-c9b2ee7b540f ed56d74a-781d-4408-9adc-9bfcfbe34585 g.chr5:148637907G>C uc003lpy.2 + 24 2243 c.1992G>C c.(1990-1992)GAG>GAC p.E664D ABLIM3_uc003lpz.1_Missense_Mutation_p.E664D|ABLIM3_uc003lqa.1_Missense_Mutation_p.E561D|ABLIM3_uc003lqb.2_Intron|ABLIM3_uc003lqc.1_Missense_Mutation_p.E631D|ABLIM3_uc003lqd.1_Missense_Mutation_p.E569D|ABLIM3_uc003lqf.2_Intron|ABLIM3_uc003lqe.1_Missense_Mutation_p.E553D NM_014945 NP_055760 O94929 ABLM3_HUMAN actin binding LIM protein family, member 3 664 HP. axon guidance|cytoskeleton organization cytoplasm actin binding|zinc ion binding ovary(2)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCATCTCTGAGTTTGACCGGC 0.517 LY6G6F 259215 broad.mit.edu 37 6 31675363 31675363 + Missense_Mutation SNP C A A TCGA-06-0650-01A-02D-1696-08 TCGA-06-0650-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 89af56db-b7f9-41d2-af62-c9b2ee7b540f ed56d74a-781d-4408-9adc-9bfcfbe34585 g.chr6:31675363C>A uc003nwa.1 + 2 181 c.181C>A c.(181-183)CTG>ATG p.L61M BAT5_uc011dnz.1_Intron|LY6G6F_uc003nwb.1_Missense_Mutation_p.L61M NM_001003693 NP_001003693 Q5SQ64 LY66F_HUMAN G6f protein precursor 61 Extracellular (Potential).|Ig-like V-type. integral to membrane|plasma membrane breast(1)|central_nervous_system(1) 2 CTTCACCACCCTGGTAGCCCA 0.592 TBX18 9096 broad.mit.edu 37 6 85446758 85446758 + Missense_Mutation SNP G A A TCGA-06-0650-01A-02D-1696-08 TCGA-06-0650-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 89af56db-b7f9-41d2-af62-c9b2ee7b540f ed56d74a-781d-4408-9adc-9bfcfbe34585 g.chr6:85446758G>A uc003pkl.1 - 8 1469 c.1469C>T c.(1468-1470)TCG>TTG p.S490L TBX18_uc010kbq.1_Intron NM_001080508 NP_001073977 O95935 TBX18_HUMAN T-box 18 490 multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|pancreas(2)|lung(1) 5 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) GGACATTCCCGAAATCTGCAT 0.527 ASCC3 10973 broad.mit.edu 37 6 101037629 101037629 + Missense_Mutation SNP C T T TCGA-06-0650-01A-02D-1696-08 TCGA-06-0650-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 89af56db-b7f9-41d2-af62-c9b2ee7b540f ed56d74a-781d-4408-9adc-9bfcfbe34585 g.chr6:101037629C>T uc003pqk.2 - 36 5760 c.5431G>A c.(5431-5433)GAA>AAA p.E1811K NM_006828 NP_006819 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 1811 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(5)|skin(1) 6 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) GTTAGAGGTTCAATGCTGCGA 0.343 PNLDC1 154197 broad.mit.edu 37 6 160240368 160240368 + Missense_Mutation SNP G A A rs138386704 TCGA-06-0650-01A-02D-1696-08 TCGA-06-0650-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 89af56db-b7f9-41d2-af62-c9b2ee7b540f ed56d74a-781d-4408-9adc-9bfcfbe34585 g.chr6:160240368G>A uc003qsx.1 + 18 1654 c.1483G>A c.(1483-1485)GTC>ATC p.V495I PNLDC1_uc003qsy.1_Missense_Mutation_p.V506I NM_173516 NP_775787 Q8NA58 PNDC1_HUMAN poly(A)-specific ribonuclease (PARN)-like domain 495 Helical; Anchor for type IV membrane protein; (Potential). integral to membrane|nucleus nucleic acid binding 0 Breast(66;0.00519)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) CTCCCCAAACGTCAACTGCCT 0.617 QKI 9444 broad.mit.edu 37 6 163956153 163956153 + Missense_Mutation SNP C G G TCGA-06-0650-01A-02D-1696-08 TCGA-06-0650-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 89af56db-b7f9-41d2-af62-c9b2ee7b540f ed56d74a-781d-4408-9adc-9bfcfbe34585 g.chr6:163956153C>G uc003qui.2 + 4 1093 c.542C>G c.(541-543)CCT>CGT p.P181R QKI_uc003que.2_Missense_Mutation_p.P181R|QKI_uc003quf.2_Missense_Mutation_p.P181R|QKI_uc003qug.2_Missense_Mutation_p.P181R|QKI_uc003quh.2_Missense_Mutation_p.P181R|QKI_uc003quj.2_Missense_Mutation_p.P181R NM_006775 NP_006766 Q96PU8 QKI_HUMAN quaking homolog, KH domain RNA binding isoform 181 mRNA processing|mRNA transport|regulation of translation|RNA splicing cytoplasm|nucleus|plasma membrane RNA binding|SH3 domain binding large_intestine(1)|ovary(1) 2 Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203) all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234) TTATTGGTACCTGCAGTAAGT 0.333 EGFR 1956 broad.mit.edu 37 7 55223531 55223533 + In_Frame_Del DEL GTG - - TCGA-06-0650-01A-02D-1696-08 TCGA-06-0650-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 89af56db-b7f9-41d2-af62-c9b2ee7b540f ed56d74a-781d-4408-9adc-9bfcfbe34585 g.chr7:55223531_55223533delGTG uc003tqk.2 + 8 1144_1146 c.898_900delGTG c.(898-900)GTGdel p.V301del EGFR_uc003tqh.2_In_Frame_Del_p.V301del|EGFR_uc003tqi.2_In_Frame_Del_p.V301del|EGFR_uc003tqj.2_In_Frame_Del_p.V301del|EGFR_uc010kzg.1_In_Frame_Del_p.V256del|EGFR_uc011kco.1_In_Frame_Del_p.V248del|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 301 Extracellular (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.V301V(1) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) AGGTAATTATGTGGTGACAGATC 0.601 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) EGFR 1956 broad.mit.edu 37 7 55241677 55241677 + Missense_Mutation SNP G A A TCGA-06-0650-01A-02D-1696-08 TCGA-06-0650-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 89af56db-b7f9-41d2-af62-c9b2ee7b540f ed56d74a-781d-4408-9adc-9bfcfbe34585 g.chr7:55241677G>A uc003tqk.2 + 18 2371 c.2125G>A c.(2125-2127)GAA>AAA p.E709K EGFR_uc010kzg.1_Missense_Mutation_p.E664K|EGFR_uc011kco.1_Missense_Mutation_p.E656K NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 709 Cytoplasmic (Potential). E -> K (found in a lung cancer sample).|E -> A (found in a lung cancer sample). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.E709K(17)|p.E709A(11)|p.E709G(7)|p.E709V(5)|p.E709_T710>D(5)|p.E709H(2)|p.E709_T710>G(1)|p.E709_T710>A(1)|p.E709fs*1(1) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) GATCTTGAAGGAAACTGAATT 0.567 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) EGFR 1956 broad.mit.edu 37 7 55241708 55241708 + Missense_Mutation SNP G A A rs121913428 TCGA-06-0650-01A-02D-1696-08 TCGA-06-0650-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 89af56db-b7f9-41d2-af62-c9b2ee7b540f ed56d74a-781d-4408-9adc-9bfcfbe34585 g.chr7:55241708G>A uc003tqk.2 + 18 2402 c.2156G>A c.(2155-2157)GGC>GAC p.G719D EGFR_uc010kzg.1_Missense_Mutation_p.G674D|EGFR_uc011kco.1_Missense_Mutation_p.G666D NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 719 Cytoplasmic (Potential).|Protein kinase.|ATP. G -> A (found in a lung cancer sample).|G -> D (found in a lung cancer sample).|G -> S (found in a lung cancer sample; somatic mutation; strongly increased kinase activity). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.G719S(61)|p.G719A(52)|p.G719C(31)|p.G719?(9)|p.G719D(6)|p.G719V(1)|p.G719fs*29(1) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) AAAGTGCTGGGCTCCGGTGCG 0.582 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) MUC17 140453 broad.mit.edu 37 7 100678917 100678917 + Missense_Mutation SNP C T T TCGA-06-0650-01A-02D-1696-08 TCGA-06-0650-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 89af56db-b7f9-41d2-af62-c9b2ee7b540f ed56d74a-781d-4408-9adc-9bfcfbe34585 g.chr7:100678917C>T uc003uxp.1 + 3 4273 c.4220C>T c.(4219-4221)CCG>CTG p.P1407L MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 1407 Extracellular (Potential).|59 X approximate tandem repeats.|21.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) AGCACCACGCCGGTAGTCAGT 0.512 KCND2 3751 broad.mit.edu 37 7 120386073 120386073 + Silent SNP G T T TCGA-06-0650-01A-02D-1696-08 TCGA-06-0650-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 89af56db-b7f9-41d2-af62-c9b2ee7b540f ed56d74a-781d-4408-9adc-9bfcfbe34585 g.chr7:120386073G>T uc003vjj.1 + 5 2672 c.1707G>T c.(1705-1707)CTG>CTT p.L569L NM_012281 NP_036413 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related 569 Cytoplasmic (Potential). regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding ovary(2)|central_nervous_system(2)|skin(1) 5 all_neural(327;0.117) GAACACCTCTGTCTAACAGGT 0.443 TSGA14 95681 broad.mit.edu 37 7 130038800 130038800 + Missense_Mutation SNP C T T TCGA-06-0650-01A-02D-1696-08 TCGA-06-0650-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 89af56db-b7f9-41d2-af62-c9b2ee7b540f ed56d74a-781d-4408-9adc-9bfcfbe34585 g.chr7:130038800C>T uc003vpz.2 - 11 1101 c.1054G>A c.(1054-1056)GGC>AGC p.G352S TSGA14_uc003vpy.2_Missense_Mutation_p.G114S|TSGA14_uc010lmf.2_Missense_Mutation_p.G149S|TSGA14_uc003vqa.2_Missense_Mutation_p.G280S|TSGA14_uc011kpg.1_Missense_Mutation_p.G264S NM_018718 NP_061188 Q9BYV8 CEP41_HUMAN testis specific, 14 352 G2/M transition of mitotic cell cycle centrosome|cytosol 0 Melanoma(18;0.0435) CTGGCGGGGCCGCCACCTGGC 0.562 RP1L1 94137 broad.mit.edu 37 8 10466088 10466088 + Silent SNP A T T TCGA-06-0650-01A-02D-1696-08 TCGA-06-0650-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 89af56db-b7f9-41d2-af62-c9b2ee7b540f ed56d74a-781d-4408-9adc-9bfcfbe34585 g.chr8:10466088A>T uc003wtc.2 - 4 5749 c.5520T>A c.(5518-5520)GCT>GCA p.A1840A NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 1840 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) CCTCCCCTTCAGCCTCCGGGG 0.632 KCNB2 9312 broad.mit.edu 37 8 73848725 73848725 + Missense_Mutation SNP A G G TCGA-06-0650-01A-02D-1696-08 TCGA-06-0650-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 89af56db-b7f9-41d2-af62-c9b2ee7b540f ed56d74a-781d-4408-9adc-9bfcfbe34585 g.chr8:73848725A>G uc003xzb.2 + 3 1723 c.1135A>G c.(1135-1137)ATG>GTG p.M379V NM_004770 NP_004761 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related 379 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1) 7 Breast(64;0.137) Epithelial(68;0.105) CACCATCACCATGACCACTGT 0.448 PTPRD 5789 broad.mit.edu 37 9 8485910 8485910 + Silent SNP C T T TCGA-06-0650-01A-02D-1696-08 TCGA-06-0650-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 89af56db-b7f9-41d2-af62-c9b2ee7b540f ed56d74a-781d-4408-9adc-9bfcfbe34585 g.chr9:8485910C>T uc003zkk.2 - 27 3618 c.2907G>A c.(2905-2907)GAG>GAA p.E969E PTPRD_uc003zkp.2_Intron|PTPRD_uc003zkq.2_Intron|PTPRD_uc003zkr.2_Intron|PTPRD_uc003zks.2_Intron|PTPRD_uc003zkl.2_Silent_p.E960E|PTPRD_uc003zkm.2_Silent_p.E956E|PTPRD_uc003zkn.2_Intron|PTPRD_uc003zko.2_Intron NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 969 Fibronectin type-III 7.|Extracellular (Potential). transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1) 22 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) CAATAAGCTGCTCCATCGGGA 0.468 TSP Lung(15;0.13) GPR143 4935 broad.mit.edu 37 X 9711677 9711677 + Missense_Mutation SNP G A A rs137852297 TCGA-06-0650-01A-02D-1696-08 TCGA-06-0650-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 89af56db-b7f9-41d2-af62-c9b2ee7b540f ed56d74a-781d-4408-9adc-9bfcfbe34585 g.chrX:9711677G>A uc004cst.1 - 6 755 c.755C>T c.(754-756)ACG>ATG p.T252M NM_000273 NP_000264 P51810 GP143_HUMAN G protein-coupled receptor 143 232 Cytoplasmic (Potential).|Necessary for its G protein-activation ability and normal distribution of melanosomes. T -> K (in OA1; abnormal distribution of melanosomes; Not delivered at the cell surface of melanocytic and non- melanocytic cells). calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception apical plasma membrane|Golgi apparatus|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction dopamine binding|L-DOPA receptor activity|protein binding|tyrosine binding ovary(1) 1 Hepatocellular(5;0.000888) CTCGTTCTCCGTGTAAATGCC 0.383 WDR13 64743 broad.mit.edu 37 X 48463240 48463240 + Silent SNP G A A rs144018865 TCGA-06-0650-01A-02D-1696-08 TCGA-06-0650-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 89af56db-b7f9-41d2-af62-c9b2ee7b540f ed56d74a-781d-4408-9adc-9bfcfbe34585 g.chrX:48463240G>A uc004dkh.1 + 10 1425 c.1278G>A c.(1276-1278)ACG>ACA p.T426T WDR13_uc004dki.1_Silent_p.T334T|WDR13_uc004dkj.1_Silent_p.T426T|WDR13_uc004dkk.1_Silent_p.T334T|WDR13_uc004dkl.3_Silent_p.T334T NM_017883 NP_060353 Q9H1Z4 WDR13_HUMAN WD repeat domain 13 protein 426 WD 4. cytoplasm|nucleus ovary(2) 2 CGACAGTGACGGGCAGTGAGG 0.622 GRIPAP1 56850 broad.mit.edu 37 X 48847434 48847434 + Silent SNP G A A TCGA-06-0650-01A-02D-1696-08 TCGA-06-0650-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 89af56db-b7f9-41d2-af62-c9b2ee7b540f ed56d74a-781d-4408-9adc-9bfcfbe34585 g.chrX:48847434G>A uc004dly.1 - 7 581 c.546C>T c.(544-546)ACC>ACT p.T182T GRIPAP1_uc004dlz.2_Silent_p.T72T|GRIPAP1_uc004dma.2_Silent_p.T129T NM_020137 NP_064522 Q4V328 GRAP1_HUMAN GRIP1 associated protein 1 isoform 1 182 early endosome breast(2)|kidney(1) 3 GGGCCAGGACGGTGGGGGCCG 0.607 FMR1NB 158521 broad.mit.edu 37 X 147063166 147063166 + Missense_Mutation SNP G A A TCGA-06-0650-01A-02D-1696-08 TCGA-06-0650-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 89af56db-b7f9-41d2-af62-c9b2ee7b540f ed56d74a-781d-4408-9adc-9bfcfbe34585 g.chrX:147063166G>A uc004fcm.2 + 1 318 c.244G>A c.(244-246)GTG>ATG p.V82M NM_152578 NP_689791 Q8N0W7 FMR1N_HUMAN fragile X mental retardation 1 neighbor 82 Helical; (Potential). integral to membrane ovary(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) CCTGCTGTTCGTGTGCTACTA 0.493 SRPK3 26576 broad.mit.edu 37 X 153049494 153049494 + Missense_Mutation SNP G A A TCGA-06-0650-01A-02D-1696-08 TCGA-06-0650-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 89af56db-b7f9-41d2-af62-c9b2ee7b540f ed56d74a-781d-4408-9adc-9bfcfbe34585 g.chrX:153049494G>A uc004fil.2 + 10 1005 c.973G>A c.(973-975)GCC>ACC p.A325T SRPK3_uc004fik.2_Missense_Mutation_p.A391T|SRPK3_uc010nul.2_Intron|SRPK3_uc004fin.2_Missense_Mutation_p.A324T|SRPK3_uc004fim.2_Intron NM_014370 NP_055185 Q9UPE1 SRPK3_HUMAN serine arginine rich protein-specific kinase 3 325 Protein kinase. cell differentiation|muscle organ development|muscle tissue development ATP binding|protein serine/threonine kinase activity pancreas(2)|lung(1) 3 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) CCCCGGGGGCGCCAGAGCAGG 0.697