Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut IGKV6D-41 28869 broad.mit.edu 37 2 90108951 90108951 + RNA SNP C C G TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a52fb9cb-1e02-4ee2-b532-e94a2b98c07f 7a62fd11-7a78-4cde-bacd-b5d2ceb6cdb4 g.chr2:90108951C>G ENST00000390271.2 + 0 242 AGTATGCTTCCCAGTCCATCT 0.517000 10 96 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75038777 75038777 + Missense_Mutation SNP C C G TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a52fb9cb-1e02-4ee2-b532-e94a2b98c07f 7a62fd11-7a78-4cde-bacd-b5d2ceb6cdb4 g.chr1:75038777C>G ENST00000326665.5 - 14 2835 c.2617G>C c.(2617-2619)Gat>Cat p.D873H C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 873 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 GGAGCCTCATCTTTACTCAGA 0.527000 77 164 0 0 1 0 0 PTK2B 2185 broad.mit.edu 37 8 27296911 27296911 + Missense_Mutation SNP G G T TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a52fb9cb-1e02-4ee2-b532-e94a2b98c07f 7a62fd11-7a78-4cde-bacd-b5d2ceb6cdb4 g.chr8:27296911G>T ENST00000397501.1 + 25 2638 c.1830G>T c.(1828-1830)atG>atT p.M610I PTK2B_ENST00000517339.1_Missense_Mutation_p.M610I|PTK2B_ENST00000338238.4_Missense_Mutation_p.M610I|PTK2B_ENST00000544172.1_Missense_Mutation_p.M610I|PTK2B_ENST00000420218.2_Missense_Mutation_p.M610I|PTK2B_ENST00000397497.4_Missense_Mutation_p.M356I|PTK2B_ENST00000346049.5_Missense_Mutation_p.M610I NM_173174.2 NP_775266.1 Q14289 FAK2_HUMAN protein tyrosine kinase 2 beta 610 Protein kinase. apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Ovarian(32;2.72e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229) ACGTCTGGATGTTCGGTGAGT 0.552000 9 45 0.0135373 0.0138715 1 1 0 MYO1G 64005 broad.mit.edu 37 7 45014808 45014808 + Missense_Mutation SNP G G A TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a52fb9cb-1e02-4ee2-b532-e94a2b98c07f 7a62fd11-7a78-4cde-bacd-b5d2ceb6cdb4 g.chr7:45014808G>A ENST00000258787.7 - 5 719 c.583C>T c.(583-585)Cac>Tac p.H195Y NM_033054.2 NP_149043.2 B0I1T2 MYO1G_HUMAN myosin IG 195 Myosin head-like. myosin complex|plasma membrane actin binding|ATP binding|calmodulin binding|motor activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4) 28 TCACCCACGTGCTGCTTGAGG 0.592000 64 646 0 0 1 0 0 MAP1B 4131 broad.mit.edu 37 5 71492074 71492074 + Silent SNP G G A TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a52fb9cb-1e02-4ee2-b532-e94a2b98c07f 7a62fd11-7a78-4cde-bacd-b5d2ceb6cdb4 g.chr5:71492074G>A ENST00000296755.7 + 5 3190 c.2892G>A c.(2890-2892)gtG>gtA p.V964V NM_005909.3 NP_005900.2 P46821 MAP1B_HUMAN microtubule-associated protein 1B 964 microtubule|microtubule associated complex structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 104 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) ACGTATGTGTGAGCGCCTCCA 0.552000 10 28 0 0 1 0 0 ZNF687 57592 broad.mit.edu 37 1 151259298 151259298 + Silent SNP G G T TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a52fb9cb-1e02-4ee2-b532-e94a2b98c07f 7a62fd11-7a78-4cde-bacd-b5d2ceb6cdb4 g.chr1:151259298G>T ENST00000368879.2 + 2 629 c.531G>T c.(529-531)ctG>ctT p.L177L NM_020832.1 NP_065883.1 Q8N1G0 ZN687_HUMAN zinc finger protein 687 177 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|zinc ion binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2) 32 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) CAGATCCGCTGCCTCCCTCTG 0.617000 6 99 4.68919e-08 5.12109e-08 1 1 0 PROSER1 80209 broad.mit.edu 37 13 39588005 39588005 + Missense_Mutation SNP G G A TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a52fb9cb-1e02-4ee2-b532-e94a2b98c07f 7a62fd11-7a78-4cde-bacd-b5d2ceb6cdb4 g.chr13:39588005G>A ENST00000352251.3 - 11 2217 c.1384C>T c.(1384-1386)Ctt>Ttt p.L462F PROSER1_ENST00000484434.2_Intron|PROSER1_ENST00000350125.3_Missense_Mutation_p.L440F NM_025138.3 NP_079414.3 Q86XN7 CM023_HUMAN proline and serine rich 1 462 Ser-rich. TTCACACCAAGTGGACCGGCA 0.493000 22 42 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 144994957 144994957 + Missense_Mutation SNP G G C TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a52fb9cb-1e02-4ee2-b532-e94a2b98c07f 7a62fd11-7a78-4cde-bacd-b5d2ceb6cdb4 g.chr8:144994957G>C ENST00000322810.4 - 32 9612 c.9443C>G c.(9442-9444)gCc>gGc p.A3148G PLEC_ENST00000356346.3_Missense_Mutation_p.A2997G|PLEC_ENST00000527096.1_Missense_Mutation_p.A3034G|PLEC_ENST00000354958.2_Missense_Mutation_p.A2989G|PLEC_ENST00000398774.2_Missense_Mutation_p.A2979G|PLEC_ENST00000354589.3_Missense_Mutation_p.A3011G|PLEC_ENST00000436759.2_Missense_Mutation_p.A3038G|PLEC_ENST00000357649.2_Missense_Mutation_p.A3015G|PLEC_ENST00000345136.3_Missense_Mutation_p.A3011G NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 3148 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 GTCCACCTCGGCTACGTCTCG 0.667000 17 52 0 0 1 0 0 TMEM132B 114795 broad.mit.edu 37 12 125834848 125834848 + Silent SNP C C G TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a52fb9cb-1e02-4ee2-b532-e94a2b98c07f 7a62fd11-7a78-4cde-bacd-b5d2ceb6cdb4 g.chr12:125834848C>G ENST00000299308.3 + 2 911 c.903C>G c.(901-903)gtC>gtG p.V301V NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 301 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) CCTTTTTGGTCTCTCTGACCA 0.502000 27 336 0 0 1 0 0 LRP2BP 55805 broad.mit.edu 37 4 186294019 186294019 + Missense_Mutation SNP A A C TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a52fb9cb-1e02-4ee2-b532-e94a2b98c07f 7a62fd11-7a78-4cde-bacd-b5d2ceb6cdb4 g.chr4:186294019A>C ENST00000362004.3 - 6 1611 c.800T>G c.(799-801)tTt>tGt p.F267C LRP2BP_ENST00000328559.7_Missense_Mutation_p.F265C|RP11-714G18.1_ENST00000514884.1_RNA|LRP2BP_ENST00000505916.1_Missense_Mutation_p.F265C|LRP2BP_ENST00000510776.1_Missense_Mutation_p.F239C Q9P2M1 LR2BP_HUMAN LRP2 binding protein 265 cytoplasm protein binding breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2) 15 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161) CCTTTTGGAAAATGCAACACA 0.373000 6 62 0 0 1 0 0 CYP4F2 8529 broad.mit.edu 37 19 16008253 16008253 + Missense_Mutation SNP G G C TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a52fb9cb-1e02-4ee2-b532-e94a2b98c07f 7a62fd11-7a78-4cde-bacd-b5d2ceb6cdb4 g.chr19:16008253G>C ENST00000221700.5 - 2 264 c.169C>G c.(169-171)Cgg>Ggg p.R57G CYP4F2_ENST00000592328.1_Missense_Mutation_p.R57G|CYP4F2_ENST00000011989.7_5'UTR NM_001082.3 NP_001073.3 P78329 CP4F2_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 2 57 leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 AACCAGTTCCGTCTTGGGGGT 0.617000 11 131 0 0 1 0 0 MRPL38 64978 broad.mit.edu 37 17 73895713 73895713 + Silent SNP C C T TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a52fb9cb-1e02-4ee2-b532-e94a2b98c07f 7a62fd11-7a78-4cde-bacd-b5d2ceb6cdb4 g.chr17:73895713C>T ENST00000309352.3 - 7 1290 c.753G>A c.(751-753)acG>acA p.T251T MRPL38_ENST00000409963.3_Silent_p.T67T|RP11-552F3.10_ENST00000587267.1_RNA NM_032478.3 NP_115867.2 Q96DV4 RM38_HUMAN mitochondrial ribosomal protein L38 251 actin cytoskeleton|mitochondrion|ribosome ovary(1)|pancreas(1)|prostate(2)|skin(1) 5 all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154) GGTAGGGACACGTCACCTGTC 0.617000 10 29 0 0 1 0 0 GPR37 2861 broad.mit.edu 37 7 124386617 124386617 + Missense_Mutation SNP C C T TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a52fb9cb-1e02-4ee2-b532-e94a2b98c07f 7a62fd11-7a78-4cde-bacd-b5d2ceb6cdb4 g.chr7:124386617C>T ENST00000303921.2 - 2 2454 c.1804G>A c.(1804-1806)Gaa>Aaa p.E602K NM_005302.2 NP_005293.1 O15354 GPR37_HUMAN G protein-coupled receptor 37 (endothelin receptor type B-like) 602 endoplasmic reticulum membrane|integral to plasma membrane G-protein coupled receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GTGGACATTTCACGGCGTATG 0.433000 25 233 0 0 1 0 0 CACNA1H 8912 broad.mit.edu 37 16 1259365 1259365 + Missense_Mutation SNP G G A TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a52fb9cb-1e02-4ee2-b532-e94a2b98c07f 7a62fd11-7a78-4cde-bacd-b5d2ceb6cdb4 g.chr16:1259365G>A ENST00000348261.5 + 17 3945 c.3697G>A c.(3697-3699)Gac>Aac p.D1233N CACNA1H_ENST00000565831.1_Missense_Mutation_p.D1233N|CACNA1H_ENST00000358590.4_Missense_Mutation_p.D1233N NM_021098.2 NP_066921.2 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, alpha 1H subunit 1233 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) CCTGCGCATCGACAGCCACCG 0.716000 9 77 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9048402 9048402 + Missense_Mutation SNP G G T TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a52fb9cb-1e02-4ee2-b532-e94a2b98c07f 7a62fd11-7a78-4cde-bacd-b5d2ceb6cdb4 g.chr19:9048402G>T ENST00000397910.4 - 5 33432 c.33229C>A c.(33229-33231)Cat>Aat p.H11077N NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11079 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TCTGCCCCATGACTGGTGGCC 0.507000 11 96 9.31168e-06 9.90858e-06 1 1 0 EGFR 1956 broad.mit.edu 37 7 55259515 55259515 + Missense_Mutation SNP T T G rs121434568 TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a52fb9cb-1e02-4ee2-b532-e94a2b98c07f 7a62fd11-7a78-4cde-bacd-b5d2ceb6cdb4 g.chr7:55259515T>G ENST00000275493.2 + 21 2750 c.2573T>G c.(2572-2574)cTg>cGg p.L858R EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.L805R|EGFR_ENST00000455089.1_Missense_Mutation_p.L813R NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 858 Protein kinase. L -> M (found in a lung cancer sample).|L -> R (found in a lung cancer sample; somatic mutation; constitutively activated enzyme with 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.L858R(1489)|p.L858Q(1)|p.L858K(1) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 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) GATTTTGGGCTGGCCAAACTG 0.537000 L858R(NCIH1975_LUNG) 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 291 118 0 0 1 0 0 TRBV7-1 28597 broad.mit.edu 37 7 142032050 142032050 + RNA SNP G G C TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a52fb9cb-1e02-4ee2-b532-e94a2b98c07f 7a62fd11-7a78-4cde-bacd-b5d2ceb6cdb4 g.chr7:142032050G>C ENST00000547918.2 + 0 45 TGGGCACAAGGCTCCTCTGCT 0.562000 3 51 0 0 1 0 0 ZNF649 65251 broad.mit.edu 37 19 52394871 52394871 + Missense_Mutation SNP T T G TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a52fb9cb-1e02-4ee2-b532-e94a2b98c07f 7a62fd11-7a78-4cde-bacd-b5d2ceb6cdb4 g.chr19:52394871T>G ENST00000354957.3 - 5 802 c.518A>C c.(517-519)aAc>aCc p.N173T ZNF649_ENST00000600738.1_Missense_Mutation_p.N173T|CTC-429C10.2_ENST00000600329.1_RNA NM_023074.3 NP_075562.2 Q9BS31 ZN649_HUMAN zinc finger protein 649 173 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 29 all_neural(266;0.0602) GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185) TTTCTCTATGTTGTGTGTTTG 0.413000 30 258 0 0 1 0 0 TMEM189 387521 broad.mit.edu 37 20 48744620 48744620 + Silent SNP G G A TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a52fb9cb-1e02-4ee2-b532-e94a2b98c07f 7a62fd11-7a78-4cde-bacd-b5d2ceb6cdb4 g.chr20:48744620G>A ENST00000557021.1 - 5 743 c.583C>T c.(583-585)Ctg>Ttg p.L195L TMEM189_ENST00000371650.5_Silent_p.L192L|TMEM189_ENST00000371652.4_Silent_p.L195L|TMEM189-UBE2V1_ENST00000341698.2_Silent_p.L195L|TMEM189_ENST00000371656.2_Silent_p.L120L NM_199203.2 NP_954673.1 transmembrane protein 189 breast(1)|endometrium(2)|large_intestine(3)|lung(2) 8 BRCA - Breast invasive adenocarcinoma(9;3.02e-07) CAGCGTGGCAGCCCAAAGTAC 0.577000 3 94 0 0 1 0 0 RPL14 9045 broad.mit.edu 37 3 40502966 40502966 + Missense_Mutation SNP G G A TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a52fb9cb-1e02-4ee2-b532-e94a2b98c07f 7a62fd11-7a78-4cde-bacd-b5d2ceb6cdb4 g.chr3:40502966G>A ENST00000396203.2 + 4 401 c.269G>A c.(268-270)cGa>cAa p.R90Q RPL14_ENST00000416518.1_Missense_Mutation_p.R90Q|RPL14_ENST00000338970.6_Missense_Mutation_p.R90Q NM_001034996.2 NP_001030168.1 P50914 RL14_HUMAN ribosomal protein L14 90 endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit protein binding|RNA binding|structural constituent of ribosome KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) GCAGCCACACGATGGGCCAAG 0.458000 5 48 0 0 1 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102514197 102514197 + Silent SNP G G A TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a52fb9cb-1e02-4ee2-b532-e94a2b98c07f 7a62fd11-7a78-4cde-bacd-b5d2ceb6cdb4 g.chr14:102514197G>A ENST00000360184.4 + 73 13214 c.13050G>A c.(13048-13050)gaG>gaA p.E4350E RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 4350 cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 AGATGTTGGAGGATGAGGACG 0.592000 3 94 0 0 1 0 0 JPH1 56704 broad.mit.edu 37 8 75156810 75156810 + Missense_Mutation SNP G G A TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a52fb9cb-1e02-4ee2-b532-e94a2b98c07f 7a62fd11-7a78-4cde-bacd-b5d2ceb6cdb4 g.chr8:75156810G>A ENST00000342232.4 - 4 1899 c.1859C>T c.(1858-1860)cCa>cTa p.P620L JPH1_ENST00000518195.1_5'UTR NM_020647.2 NP_065698.1 Q9HDC5 JPH1_HUMAN junctophilin 1 620 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 24 Breast(64;0.00576) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176) GTTGCTTGCTGGATTCTTTGG 0.418000 32 103 0 0 1 0 0 DCAF8L2 347442 broad.mit.edu 37 X 27765086 27765086 + Missense_Mutation SNP A A T TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a52fb9cb-1e02-4ee2-b532-e94a2b98c07f 7a62fd11-7a78-4cde-bacd-b5d2ceb6cdb4 g.chrX:27765086A>T ENST00000451261.2 + 5 473 c.74A>T c.(73-75)gAg>gTg p.E25V NM_001136533.1 NP_001130005.1 DDB1 and CUL4 associated factor 8-like 2 central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3) 24 AGCCCAGAGGAGCAGTCTGGA 0.557000 3 7 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179403878 179403878 + Missense_Mutation SNP T T A TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a52fb9cb-1e02-4ee2-b532-e94a2b98c07f 7a62fd11-7a78-4cde-bacd-b5d2ceb6cdb4 g.chr2:179403878T>A ENST00000589042.1 - 353 99008 c.98784A>T c.(98782-98784)agA>agT p.R32928S TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R31287S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R23988S|TTN_ENST00000460472.2_Missense_Mutation_p.R23863S|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R30360S|TTN_ENST00000342175.6_Missense_Mutation_p.R24055S|TTN-AS1_ENST00000590040.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 31287 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AGCCTGTGACTCTAGAACCAC 0.498000 7 90 0 0 1 0 0 PTK2B 2185 broad.mit.edu 37 8 27296909 27296909 + Missense_Mutation SNP A A T TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a52fb9cb-1e02-4ee2-b532-e94a2b98c07f 7a62fd11-7a78-4cde-bacd-b5d2ceb6cdb4 g.chr8:27296909A>T ENST00000397501.1 + 25 2636 c.1828A>T c.(1828-1830)Atg>Ttg p.M610L PTK2B_ENST00000517339.1_Missense_Mutation_p.M610L|PTK2B_ENST00000338238.4_Missense_Mutation_p.M610L|PTK2B_ENST00000544172.1_Missense_Mutation_p.M610L|PTK2B_ENST00000420218.2_Missense_Mutation_p.M610L|PTK2B_ENST00000397497.4_Missense_Mutation_p.M356L|PTK2B_ENST00000346049.5_Missense_Mutation_p.M610L NM_173174.2 NP_775266.1 Q14289 FAK2_HUMAN protein tyrosine kinase 2 beta 610 Protein kinase. apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Ovarian(32;2.72e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229) TGACGTCTGGATGTTCGGTGA 0.547000 9 45 0 0 1 0 0 EEF1B2 1933 broad.mit.edu 37 2 207025358 207025358 + Missense_Mutation SNP A A G TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a52fb9cb-1e02-4ee2-b532-e94a2b98c07f 7a62fd11-7a78-4cde-bacd-b5d2ceb6cdb4 g.chr2:207025358A>G ENST00000392222.2 + 2 502 c.127A>G c.(127-129)Agc>Ggc p.S43G EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G NM_001959.3 NP_001950.1 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 2 43 GST C-terminal. cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity p.S43G(4) breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6) 16 AGCCGTGTCCAGCCCACCGCC 0.468000 6 141 0 0 1 0 0 GDF2 2658 broad.mit.edu 37 10 48414310 48414310 + Silent SNP T T C TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a52fb9cb-1e02-4ee2-b532-e94a2b98c07f 7a62fd11-7a78-4cde-bacd-b5d2ceb6cdb4 g.chr10:48414310T>C ENST00000249598.1 - 2 717 c.558A>G c.(556-558)acA>acG p.T186T NM_016204.1 NP_057288.1 Q9UK05 GDF2_HUMAN growth differentiation factor 2 186 activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 28 TCTTGGTCTCTGTAGCACTAT 0.547000 3 40 0 0 1 0 0 CD248 57124 broad.mit.edu 37 11 66083663 66083663 + Missense_Mutation SNP G G A rs138260039 TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a52fb9cb-1e02-4ee2-b532-e94a2b98c07f 7a62fd11-7a78-4cde-bacd-b5d2ceb6cdb4 g.chr11:66083663G>A ENST00000311330.3 - 1 852 c.836C>T c.(835-837)cCg>cTg p.P279L RP11-867G23.13_ENST00000534065.1_RNA NM_020404.2 NP_065137.1 Q9HCU0 CD248_HUMAN CD248 molecule, endosialin 279 integral to membrane|proteinaceous extracellular matrix calcium ion binding|sugar binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 26 Cefalotin(DB00456) CTGCTCGCACGGAGCCTGGGC 0.677000 3 36 0 0 1 0 0 COL3A1 1281 broad.mit.edu 37 2 189864281 189864281 + Missense_Mutation SNP G G A TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a52fb9cb-1e02-4ee2-b532-e94a2b98c07f 7a62fd11-7a78-4cde-bacd-b5d2ceb6cdb4 g.chr2:189864281G>A ENST00000304636.3 + 31 2377 c.2207G>A c.(2206-2208)aGt>aAt p.S736N COL3A1_ENST00000317840.5_Missense_Mutation_p.S736N NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 736 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) GGTCTTGGAAGTCCTGGTCCA 0.463000 12 87 0 0 1 0 0 TTC7A 57217 broad.mit.edu 37 2 47250579 47250579 + Missense_Mutation SNP C C T rs144064667 byFrequency TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a52fb9cb-1e02-4ee2-b532-e94a2b98c07f 7a62fd11-7a78-4cde-bacd-b5d2ceb6cdb4 g.chr2:47250579C>T ENST00000319190.5 + 13 1911 c.1543C>T c.(1543-1545)Cgg>Tgg p.R515W TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000409245.1_Missense_Mutation_p.R481W|TTC7A_ENST00000263737.6_Missense_Mutation_p.R161W|TTC7A_ENST00000394850.2_Missense_Mutation_p.R515W NM_020458.2 NP_065191.2 Q9ULT0 TTC7A_HUMAN tetratricopeptide repeat domain 7A 515 binding breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114) TGAATTGCACCGGAAGGCACT 0.597000 15 52 0 0 1 0 0 TRIM21 6737 broad.mit.edu 37 11 4410931 4410931 + Missense_Mutation SNP C C T TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a52fb9cb-1e02-4ee2-b532-e94a2b98c07f 7a62fd11-7a78-4cde-bacd-b5d2ceb6cdb4 g.chr11:4410931C>T ENST00000254436.7 - 3 569 c.457G>A c.(457-459)Gct>Act p.A153T TRIM21_ENST00000543625.1_Missense_Mutation_p.A153T NM_003141.3 NP_003132.2 P19474 RO52_HUMAN tripartite motif containing 21 153 cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization cytoplasmic mRNA processing body|nucleus DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3) 16 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194) AACTTCTCAGCCAACTCCTGC 0.493000 5 214 0 0 1 0 0 PCDHGC4 56098 broad.mit.edu 37 5 140865302 140865302 + Missense_Mutation SNP G G A TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a52fb9cb-1e02-4ee2-b532-e94a2b98c07f 7a62fd11-7a78-4cde-bacd-b5d2ceb6cdb4 g.chr5:140865302G>A ENST00000306593.1 + 1 562 c.562G>A c.(562-564)Ggc>Agc p.G188S PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron NM_018928.2|NM_032406.1 NP_061751.1|NP_115782.1 p.G188S(1) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 42 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGCAGCGACGGCAGCCTGGT 0.567000 6 58 0 0 1 0 0 OR10P1 121130 broad.mit.edu 37 12 56030844 56030844 + Missense_Mutation SNP T T A TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a52fb9cb-1e02-4ee2-b532-e94a2b98c07f 7a62fd11-7a78-4cde-bacd-b5d2ceb6cdb4 g.chr12:56030844T>A ENST00000309675.2 + 1 201 c.169T>A c.(169-171)Tcc>Acc p.S57T NM_206899.1 NP_996782.1 Q8NGE3 O10P1_HUMAN olfactory receptor, family 10, subfamily P, member 1 57 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 26 TGCCCTGCACTCCCCCATGTA 0.612000 6 142 0 0 1 0 0 MAN2A2 4122 broad.mit.edu 37 15 91453343 91453343 + Missense_Mutation SNP C C G TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a52fb9cb-1e02-4ee2-b532-e94a2b98c07f 7a62fd11-7a78-4cde-bacd-b5d2ceb6cdb4 g.chr15:91453343C>G ENST00000360468.3 + 9 1416 c.1398C>G c.(1396-1398)gaC>gaG p.D466E MAN2A2_ENST00000559717.1_Missense_Mutation_p.D466E|MAN2A2_ENST00000431652.2_Intron NM_006122.2 NP_006113.2 P49641 MA2A2_HUMAN mannosidase, alpha, class 2A, member 2 466 mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) CTCTTTCTGACTATTTTGATG 0.582000 6 131 0 0 1 0 0 FAM86HP 729375 broad.mit.edu 37 3 129821632 129821632 + RNA SNP C C T rs115468595 by1000genomes TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a52fb9cb-1e02-4ee2-b532-e94a2b98c07f 7a62fd11-7a78-4cde-bacd-b5d2ceb6cdb4 g.chr3:129821632C>T ENST00000500074.2 - 0 513 ACACCTGGCACGTCTCTGGGT 0.662000 6 175 0 0 1 0 0 GFPT2 9945 broad.mit.edu 37 5 179729428 179729428 + Missense_Mutation SNP A A C TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a52fb9cb-1e02-4ee2-b532-e94a2b98c07f 7a62fd11-7a78-4cde-bacd-b5d2ceb6cdb4 g.chr5:179729428A>C ENST00000253778.8 - 18 2168 c.1999T>G c.(1999-2001)Tat>Gat p.Y667D NM_005110.2 NP_005101.1 O94808 GFPT2_HUMAN glutamine-fructose-6-phosphate transaminase 2 667 SIS 2. dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 34 all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) Medulloblastoma(196;0.0392)|all_neural(177;0.0529) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) L-Glutamine(DB00130) CGCACGTCATATCCTCGGAGA 0.498000 3 114 0 0 1 0 0 PLXNA4 91584 broad.mit.edu 37 7 132069983 132069983 + Silent SNP A A T TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a52fb9cb-1e02-4ee2-b532-e94a2b98c07f 7a62fd11-7a78-4cde-bacd-b5d2ceb6cdb4 g.chr7:132069983A>T ENST00000423507.2 - 4 1577 c.1443T>A c.(1441-1443)acT>acA p.T481T PLXNA4_ENST00000321063.4_Intron|PLXNA4_ENST00000359827.3_Intron NM_001105543.1 NP_001099013.1 Q9HCM2 PLXA4_HUMAN plexin A4 1029 Sema. integral to membrane|intracellular|plasma membrane p.T481T(1) NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 GGAGTTCCAGAGTCACTGTTG 0.478000 6 70 0 0 1 0 0 KAT7 11143 broad.mit.edu 37 17 47904072 47904072 + Missense_Mutation SNP G G T TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a52fb9cb-1e02-4ee2-b532-e94a2b98c07f 7a62fd11-7a78-4cde-bacd-b5d2ceb6cdb4 g.chr17:47904072G>T ENST00000503935.2 + 14 2213 c.1177G>T c.(1177-1179)Gct>Tct p.A393S KAT7_ENST00000435742.2_Missense_Mutation_p.A363S|KAT7_ENST00000510819.1_Missense_Mutation_p.A380S|KAT7_ENST00000259021.4_Missense_Mutation_p.A549S|KAT7_ENST00000509773.1_Missense_Mutation_p.A439S|KAT7_ENST00000513980.1_3'UTR|KAT7_ENST00000424009.2_Missense_Mutation_p.A519S|KAT7_ENST00000454930.2_Missense_Mutation_p.A410S O95251 MYST2_HUMAN K(lysine) acetyltransferase 7 549 DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding TCAGGAGACGGCTGTGAATCC 0.478000 12 162 1.99824e-07 2.15394e-07 1 1 0 TMPRSS6 164656 broad.mit.edu 37 22 37482363 37482363 + Silent SNP G G A rs141319169 byFrequency TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a52fb9cb-1e02-4ee2-b532-e94a2b98c07f 7a62fd11-7a78-4cde-bacd-b5d2ceb6cdb4 g.chr22:37482363G>A ENST00000381792.2 - 8 1073 c.933C>T c.(931-933)taC>taT p.Y311Y TMPRSS6_ENST00000442782.2_Silent_p.Y320Y|TMPRSS6_ENST00000406725.1_Silent_p.Y311Y|TMPRSS6_ENST00000406856.1_Silent_p.Y311Y|TMPRSS6_ENST00000346753.3_Silent_p.Y320Y Q8IU80 TMPS6_HUMAN transmembrane protease, serine 6 320 CUB 1. angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis integral to membrane|intracellular|plasma membrane serine-type endopeptidase activity p.Y320Y(1) breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3) 40 CGAAGGGGTCGTAGTAGCTGT 0.677000 10 38 0 0 1 0 0 CCDC36 339834 broad.mit.edu 37 3 49293879 49293879 + Nonsense_Mutation SNP G G T TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a52fb9cb-1e02-4ee2-b532-e94a2b98c07f 7a62fd11-7a78-4cde-bacd-b5d2ceb6cdb4 g.chr3:49293879G>T ENST00000438782.1 + 8 1185 c.949G>T c.(949-951)Gaa>Taa p.E317* CCDC36_ENST00000296449.5_Nonsense_Mutation_p.E317*|CCDC36_ENST00000452691.2_Nonsense_Mutation_p.E317* Q8IYA8 CCD36_HUMAN coiled-coil domain containing 36 317 endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3) 14 BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262) ACAGCCTGGAGAATTTGATGT 0.507000 5 82 1.23904e-05 1.30178e-05 1 1 0 ZFYVE16 9765 broad.mit.edu 37 5 79746335 79746335 + Silent SNP G G A TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a52fb9cb-1e02-4ee2-b532-e94a2b98c07f 7a62fd11-7a78-4cde-bacd-b5d2ceb6cdb4 g.chr5:79746335G>A ENST00000338008.5 + 9 3492 c.3312G>A c.(3310-3312)ttG>ttA p.L1104L ZFYVE16_ENST00000505560.1_Silent_p.L1104L|ZFYVE16_ENST00000510158.1_Silent_p.L1104L NM_014733.3 NP_055548.3 Q7Z3T8 ZFY16_HUMAN zinc finger, FYVE domain containing 16 1104 BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization early endosome membrane 1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36) TGTTATGTTTGCCAAATGAAG 0.333000 24 136 0 0 1 0 0 ZFPM1 161882 broad.mit.edu 37 16 88599208 88599208 + Missense_Mutation SNP A A G TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a52fb9cb-1e02-4ee2-b532-e94a2b98c07f 7a62fd11-7a78-4cde-bacd-b5d2ceb6cdb4 g.chr16:88599208A>G ENST00000319555.3 + 9 1376 c.1054A>G c.(1054-1056)Agc>Ggc p.S352G NM_153813.2 NP_722520.2 Q8IX07 FOG1_HUMAN zinc finger protein, FOG family member 1 352 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm DNA binding|transcription factor binding|zinc ion binding central_nervous_system(1)|ovary(2)|urinary_tract(1) 4 BRCA - Breast invasive adenocarcinoma(80;0.0478) TGTCTGCCACAGCTGTGGCTT 0.657000 12 88 0 0 1 0 0 EGFLAM 133584 broad.mit.edu 37 5 38427311 38427311 + Missense_Mutation SNP G G A rs147520523 byFrequency TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a52fb9cb-1e02-4ee2-b532-e94a2b98c07f 7a62fd11-7a78-4cde-bacd-b5d2ceb6cdb4 g.chr5:38427311G>A ENST00000322350.5 + 14 2357 c.2011G>A c.(2011-2013)Gtg>Atg p.V671M EGFLAM_ENST00000354891.3_Missense_Mutation_p.V671M|EGFLAM_ENST00000336740.6_Missense_Mutation_p.V437M|EGFLAM_ENST00000397202.2_Missense_Mutation_p.V37M|EGFLAM-AS1_ENST00000508986.1_RNA NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 671 Laminin G-like 2. cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) AGGGGGCCACGTGGAGTTCCG 0.522000 40 286 0 0 1 0 0 CHGA 1113 broad.mit.edu 37 14 93397926 93397926 + Silent SNP G G A TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a52fb9cb-1e02-4ee2-b532-e94a2b98c07f 7a62fd11-7a78-4cde-bacd-b5d2ceb6cdb4 g.chr14:93397926G>A ENST00000216492.5 + 6 967 c.687G>A c.(685-687)gaG>gaA p.E229E CHGA_ENST00000553866.1_3'UTR|CHGA_ENST00000334654.4_Intron NM_001275.3 NP_001266.1 P10645 CMGA_HUMAN chromogranin A (parathyroid secretory protein 1) 229 regulation of blood pressure extracellular region|stored secretory granule cervix(1)|large_intestine(1)|lung(3)|skin(3) 8 all_cancers(154;0.0843) Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224) AGAGAgaagaggaggaggagg 0.647000 3 42 0 0 1 0 0 EEF1B2 1933 broad.mit.edu 37 2 207025366 207025366 + Silent SNP G G A TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a52fb9cb-1e02-4ee2-b532-e94a2b98c07f 7a62fd11-7a78-4cde-bacd-b5d2ceb6cdb4 g.chr2:207025366G>A ENST00000392222.2 + 2 510 c.135G>A c.(133-135)ccG>ccA p.P45P EEF1B2_ENST00000392221.1_Silent_p.P45P|EEF1B2_ENST00000236957.5_Silent_p.P45P NM_001959.3 NP_001950.1 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 2 45 GST C-terminal. cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity p.P45P(5) breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6) 16 CCAGCCCACCGCCTGCCGACT 0.448000 6 148 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414379 20414379 + Silent SNP G G A TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a52fb9cb-1e02-4ee2-b532-e94a2b98c07f 7a62fd11-7a78-4cde-bacd-b5d2ceb6cdb4 g.chr9:20414379G>A ENST00000380338.4 - 5 751 c.465C>T c.(463-465)agC>agT p.S155S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S152S|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 155 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S155S(4) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctactgctgctgctgc 0.532000 T MLL ALL 4 15 0 0 1 0 0 SNAI3 333929 broad.mit.edu 37 16 88744934 88744934 + Silent SNP G G A TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a52fb9cb-1e02-4ee2-b532-e94a2b98c07f 7a62fd11-7a78-4cde-bacd-b5d2ceb6cdb4 g.chr16:88744934G>A ENST00000332281.5 - 3 887 c.801C>T c.(799-801)tgC>tgT p.C267C SNAI3-AS1_ENST00000563261.1_RNA NM_178310.3 NP_840101.1 Q3KNW1 SNAI3_HUMAN snail family zinc finger 3 267 oxidation-reduction process copper ion binding|DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|kidney(1)|lung(1)|ovary(1)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(80;0.048) TGCAGCGCCGGCACCGGTACT 0.667000 3 46 0 0 1 0 0 MAS1L 116511 broad.mit.edu 37 6 29455331 29455331 + Missense_Mutation SNP C C T TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a52fb9cb-1e02-4ee2-b532-e94a2b98c07f 7a62fd11-7a78-4cde-bacd-b5d2ceb6cdb4 g.chr6:29455331C>T ENST00000377127.3 - 1 407 c.349G>A c.(349-351)Gct>Act p.A117T NM_052967.1 NP_443199.1 P35410 MAS1L_HUMAN MAS1 oncogene-like 117 cytoplasm|integral to membrane|nucleus|plasma membrane G-protein coupled receptor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2) 28 ACGTCAGCAGCGACCAGGTGG 0.517000 4 70 0 0 1 0 0 ROCK1 6093 broad.mit.edu 37 18 18622538 18622538 + Missense_Mutation SNP C C T TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a52fb9cb-1e02-4ee2-b532-e94a2b98c07f 7a62fd11-7a78-4cde-bacd-b5d2ceb6cdb4 g.chr18:18622538C>T ENST00000399799.1 - 7 1748 c.808G>A c.(808-810)Gaa>Aaa p.E270K NM_005406.2 NP_005397.1 Q13464 ROCK1_HUMAN Rho-associated, coiled-coil containing protein kinase 1 270 Protein kinase. actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction centriole|cytosol|Golgi membrane ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2) 16 Melanoma(1;0.165) ACAAGCATTTCGTATAAAAAT 0.348000 89 148 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578443 7578443 + Missense_Mutation SNP A A G TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a52fb9cb-1e02-4ee2-b532-e94a2b98c07f 7a62fd11-7a78-4cde-bacd-b5d2ceb6cdb4 g.chr17:7578443A>G ENST00000420246.2 - 5 619 c.487T>C c.(487-489)Tac>Cac p.Y163H TP53_ENST00000269305.4_Missense_Mutation_p.Y163H|TP53_ENST00000413465.2_Missense_Mutation_p.Y163H|TP53_ENST00000359597.4_Missense_Mutation_p.Y163H|TP53_ENST00000445888.2_Missense_Mutation_p.Y163H|TP53_ENST00000455263.2_Missense_Mutation_p.Y163H NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 163 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding p.Y163N(20)|p.Y163H(17)|p.0?(8)|p.Y163D(5)|p.I162_Y163>N(3)|p.Y163fs*7(2)|p.V157_C176del20(1)|p.Y163fs*1(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.S149fs*72(1)|p.I30_Y31>N(1)|p.I162_Y163delIY(1)|p.I69_Y70>N(1)|p.Y70N(1)|p.A161fs*7(1)|p.Y31N(1)|p.Y163fs*14(1)|p.A159_Q167delAMAIYKQSQ(1)|p.Y163fs*18(1)|p.Y70D(1)|p.Y31D(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 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) GACTGCTTGTAGATGGCCATG 0.622000 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 Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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) 21 65 0 0 1 0 0 MIR522 574495 broad.mit.edu 37 19 54254543 54254543 + RNA SNP G G A TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a52fb9cb-1e02-4ee2-b532-e94a2b98c07f 7a62fd11-7a78-4cde-bacd-b5d2ceb6cdb4 g.chr19:54254543G>A ENST00000385071.1 + 0 79 NR_030217.1 AGAGTGTTACGCTTTGAGAAA 0.418000 15 53 0 0 1 0 0 TTC24 164118 broad.mit.edu 37 1 156555578 156555578 + Silent SNP G G A TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a52fb9cb-1e02-4ee2-b532-e94a2b98c07f 7a62fd11-7a78-4cde-bacd-b5d2ceb6cdb4 g.chr1:156555578G>A ENST00000368236.3 + 9 1566 c.1530G>A c.(1528-1530)acG>acA p.T510T TTC24_ENST00000495690.1_3'UTR|TTC24_ENST00000368237.3_Silent_p.T510T NM_001105669.2 NP_001099139.2 A2A3L6 TTC24_HUMAN tetratricopeptide repeat domain 24 510 binding breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1) 20 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CCAAGCACACGCCCTGCAGAG 0.517000 8 181 0 0 1 0 0 FBXO17 115290 broad.mit.edu 37 19 39435614 39435614 + Nonsense_Mutation SNP G G A TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a52fb9cb-1e02-4ee2-b532-e94a2b98c07f 7a62fd11-7a78-4cde-bacd-b5d2ceb6cdb4 g.chr19:39435614G>A ENST00000292852.4 - 5 1029 c.688C>T c.(688-690)Cga>Tga p.R230* CTC-360G5.8_ENST00000599996.1_Missense_Mutation_p.P134L|FBXO17_ENST00000595329.1_Nonsense_Mutation_p.R230*|SARS2_ENST00000448145.2_Nonsense_Mutation_p.R65* NM_024907.5 NP_079183.4 F-box protein 17 breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1) 7 all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454) Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554) CCCACCTGTCGGCAGCCCCTC 0.602000 13 111 0 0 1 0 0 PCDH19 57526 broad.mit.edu 37 X 99662889 99662889 + Missense_Mutation SNP G G A TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a52fb9cb-1e02-4ee2-b532-e94a2b98c07f 7a62fd11-7a78-4cde-bacd-b5d2ceb6cdb4 g.chrX:99662889G>A ENST00000373034.4 - 1 2382 c.707C>T c.(706-708)cCg>cTg p.P236L PCDH19_ENST00000255531.7_Missense_Mutation_p.P236L|PCDH19_ENST00000420881.2_Missense_Mutation_p.P236L NM_001184880.1 NP_001171809.1 Q8TAB3 PCD19_HUMAN protocadherin 19 236 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 68 GCTAAACACCGGGTTGTTGTC 0.617000 5 130 0 0 1 0 0 FLAD1 80308 broad.mit.edu 37 1 154962054 154962054 + Missense_Mutation SNP A A G TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a52fb9cb-1e02-4ee2-b532-e94a2b98c07f 7a62fd11-7a78-4cde-bacd-b5d2ceb6cdb4 g.chr1:154962054A>G ENST00000368433.1 + 3 1479 c.1136A>G c.(1135-1137)aAg>aGg p.K379R FLAD1_ENST00000295530.2_Intron|FLAD1_ENST00000405236.2_Intron|FLAD1_ENST00000368428.1_5'UTR|FLAD1_ENST00000368432.1_Missense_Mutation_p.K282R|FLAD1_ENST00000292180.3_Missense_Mutation_p.K379R|FLAD1_ENST00000315144.10_Missense_Mutation_p.K282R Q8NFF5 FAD1_HUMAN flavin adenine dinucleotide synthetase 1 379 FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol ATP binding|FMN adenylyltransferase activity endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3) 22 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) TTGGGGAAAAAGGTGGCAGGT 0.567000 4 155 0 0 1 0 0 VRK3 51231 broad.mit.edu 37 19 50500778 50500778 + Missense_Mutation SNP G G A TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a52fb9cb-1e02-4ee2-b532-e94a2b98c07f 7a62fd11-7a78-4cde-bacd-b5d2ceb6cdb4 g.chr19:50500778G>A ENST00000599538.1 - 7 1326 c.662C>T c.(661-663)gCc>gTc p.A221V VRK3_ENST00000601912.1_Missense_Mutation_p.A171V|VRK3_ENST00000377011.2_Missense_Mutation_p.A171V|VRK3_ENST00000594948.1_Missense_Mutation_p.A221V|VRK3_ENST00000593919.1_Missense_Mutation_p.A221V|VRK3_ENST00000601341.1_Missense_Mutation_p.A171V|VRK3_ENST00000443401.2_Intron|VRK3_ENST00000424804.2_Intron|VRK3_ENST00000594092.1_Missense_Mutation_p.A221V|VRK3_ENST00000316763.3_Missense_Mutation_p.A221V Q8IV63 VRK3_HUMAN vaccinia related kinase 3 221 Protein kinase. nucleus ATP binding|protein kinase activity breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1) 23 all_neural(266;0.0459)|Ovarian(192;0.0481) GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652) AGGCTTGGCGGCCCGCTGGAA 0.587000 4 57 0 0 1 0 0 FGF18 8817 broad.mit.edu 37 5 170863216 170863216 + Silent SNP G G A TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a52fb9cb-1e02-4ee2-b532-e94a2b98c07f 7a62fd11-7a78-4cde-bacd-b5d2ceb6cdb4 g.chr5:170863216G>A ENST00000274625.5 + 3 733 c.189G>A c.(187-189)ggG>ggA p.G63G NM_003862.2 NP_003853.1 O76093 FGF18_HUMAN fibroblast growth factor 18 63 cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell proliferation extracellular space|nucleolus growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1) 9 Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GGACCAGTGGGAAACACATCC 0.627000 7 58 0 0 1 0 0 PACSIN2 11252 broad.mit.edu 37 22 43289489 43289489 + Missense_Mutation SNP C C T TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a52fb9cb-1e02-4ee2-b532-e94a2b98c07f 7a62fd11-7a78-4cde-bacd-b5d2ceb6cdb4 g.chr22:43289489C>T ENST00000263246.3 - 3 392 c.191G>A c.(190-192)cGg>cAg p.R64Q PACSIN2_ENST00000496919.1_5'UTR|PACSIN2_ENST00000402229.1_Missense_Mutation_p.R64Q|PACSIN2_ENST00000407585.1_Missense_Mutation_p.R64Q|PACSIN2_ENST00000337959.4_Missense_Mutation_p.R64Q|PACSIN2_ENST00000403744.3_Missense_Mutation_p.R64Q NM_001184970.1 NP_001171899.1 Q9UNF0 PACN2_HUMAN protein kinase C and casein kinase substrate in neurons 2 64 FCH. actin cytoskeleton organization|endocytosis cytoplasmic membrane-bounded vesicle transporter activity NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1) 19 Glioma(61;0.222) CCTCCAGCGCCGGGCCCACTC 0.672000 15 67 0 0 1 0 0 DDX53 168400 broad.mit.edu 37 X 23019710 23019710 + Silent SNP C C T TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a52fb9cb-1e02-4ee2-b532-e94a2b98c07f 7a62fd11-7a78-4cde-bacd-b5d2ceb6cdb4 g.chrX:23019710C>T ENST00000327968.5 + 1 1624 c.1536C>T c.(1534-1536)gaC>gaT p.D512D RP11-40F8.2_ENST00000455399.1_RNA NM_182699.3 NP_874358.2 Q86TM3 DDX53_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 512 Helicase C-terminal. nucleus ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 35 CAGTAGAGGACTTTAAAAGCG 0.378000 24 46 0 0 1 0 0 ANKRA2 57763 broad.mit.edu 37 5 72858614 72858614 + Missense_Mutation SNP T T G TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a52fb9cb-1e02-4ee2-b532-e94a2b98c07f 7a62fd11-7a78-4cde-bacd-b5d2ceb6cdb4 g.chr5:72858614T>G ENST00000296785.3 - 2 751 c.93A>C c.(91-93)aaA>aaC p.K31N NM_023039.4 NP_075526.1 Q9H9E1 ANRA2_HUMAN ankyrin repeat, family A (RFXANK-like), 2 31 cytoskeleton|cytosol|membrane low-density lipoprotein particle binding endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1) 8 Lung NSC(167;0.0378)|Ovarian(174;0.0908) OV - Ovarian serous cystadenocarcinoma(47;3.71e-54) GATGTTCTATTTTAATGTCTG 0.423000 11 174 0 0 1 0 0 FGF18 8817 broad.mit.edu 37 5 170863180 170863180 + Silent SNP G G A TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a52fb9cb-1e02-4ee2-b532-e94a2b98c07f 7a62fd11-7a78-4cde-bacd-b5d2ceb6cdb4 g.chr5:170863180G>A ENST00000274625.5 + 3 697 c.153G>A c.(151-153)caG>caA p.Q51Q NM_003862.2 NP_003853.1 O76093 FGF18_HUMAN fibroblast growth factor 18 51 cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell proliferation extracellular space|nucleolus growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1) 9 Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GCCGTAAGCAGCTGCGGCTGT 0.627000 6 67 0 0 1 0 0 PSMD13 5719 broad.mit.edu 37 11 250829 250829 + Missense_Mutation SNP G G C TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a52fb9cb-1e02-4ee2-b532-e94a2b98c07f 7a62fd11-7a78-4cde-bacd-b5d2ceb6cdb4 g.chr11:250829G>C ENST00000532097.1 + 10 1305 c.801G>C c.(799-801)caG>caC p.Q267H PSMD13_ENST00000352303.5_Missense_Mutation_p.Q267H|PSMD13_ENST00000431206.2_Missense_Mutation_p.Q269H NM_002817.3 NP_002808.3 Q9UNM6 PSD13_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 13 267 PCI. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction proteasome regulatory particle protein binding NS(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1) 10 all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.79e-27)|Epithelial(43;4e-26)|OV - Ovarian serous cystadenocarcinoma(40;6.02e-21)|BRCA - Breast invasive adenocarcinoma(625;3.93e-05)|Lung(200;0.112)|LUSC - Lung squamous cell carcinoma(625;0.129) ATGAAGCCCAGCTTCTGAGGA 0.453000 OREG0020657 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 36 86 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10358537 10358537 + Silent SNP T T C TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a52fb9cb-1e02-4ee2-b532-e94a2b98c07f 7a62fd11-7a78-4cde-bacd-b5d2ceb6cdb4 g.chr17:10358537T>C ENST00000255381.2 - 20 2360 c.2250A>G c.(2248-2250)ctA>ctG p.L750L CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 750 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 CAATAGACCCTAGAAGTTTCT 0.373000 3 71 0 0 1 0 0 PCDHGA12 26025 broad.mit.edu 37 5 140890603 140890603 + Missense_Mutation SNP G G A rs116366286 by1000genomes TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a52fb9cb-1e02-4ee2-b532-e94a2b98c07f 7a62fd11-7a78-4cde-bacd-b5d2ceb6cdb4 g.chr5:140890603G>A ENST00000252085.3 + 4 2804 c.2662G>A c.(2662-2664)Gtg>Atg p.V888M PCDHGA8_ENST00000398604.2_Missense_Mutation_p.V888M|PCDHGA10_ENST00000398610.2_Missense_Mutation_p.V892M|PCDHGC3_ENST00000308177.3_Missense_Mutation_p.V890M|PCDHGC4_ENST00000306593.1_Missense_Mutation_p.V894M|PCDHGC5_ENST00000252087.1_Missense_Mutation_p.V900M|PCDHGB1_ENST00000523390.1_Missense_Mutation_p.V883M|PCDHGB3_ENST00000576222.1_Missense_Mutation_p.V885M|PCDHGB7_ENST00000398594.2_Missense_Mutation_p.V885M|PCDHGB2_ENST00000522605.1_Missense_Mutation_p.V887M|PCDHGA4_ENST00000571252.1_Missense_Mutation_p.V887M|PCDHGA7_ENST00000518325.1_Missense_Mutation_p.V888M|PCDHGA6_ENST00000517434.1_Missense_Mutation_p.V888M|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.V706M|PCDHGA2_ENST00000394576.2_Missense_Mutation_p.V888M|PCDHGA3_ENST00000253812.6_Missense_Mutation_p.V888M|PCDHGA1_ENST00000517417.1_Missense_Mutation_p.V887M|PCDHGA9_ENST00000573521.1_Missense_Mutation_p.V888M|PCDHGB4_ENST00000519479.1_Missense_Mutation_p.V879M|PCDHGB6_ENST00000520790.1_Missense_Mutation_p.V886M|PCDHGA11_ENST00000398587.2_Missense_Mutation_p.V891M|PCDHGA5_ENST00000518069.1_Missense_Mutation_p.V887M NM_003735.2|NM_032094.1 NP_003726.1|NP_115265.1 breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 58 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCTGCAGCACGTGCCCGACTA 0.642000 14 182 0 0 1 0 0 MMP24 10893 broad.mit.edu 37 20 33851652 33851652 + Missense_Mutation SNP C C G TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a52fb9cb-1e02-4ee2-b532-e94a2b98c07f 7a62fd11-7a78-4cde-bacd-b5d2ceb6cdb4 g.chr20:33851652C>G ENST00000246186.6 + 5 961 c.876C>G c.(874-876)caC>caG p.H292Q MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000453892.1_RNA|MMP24-AS1_ENST00000566203.1_RNA|EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000438751.1_RNA NM_006690.3 NP_006681.1 Q9Y5R2 MMP24_HUMAN matrix metallopeptidase 24 (membrane-inserted) 292 proteolysis integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5) 14 BRCA - Breast invasive adenocarcinoma(18;0.00252) GACTGGAGCACTCCAGCGACC 0.622000 4 12 0 0 1 0 0 MAS1L 116511 broad.mit.edu 37 6 29455436 29455436 + Missense_Mutation SNP C C G TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a52fb9cb-1e02-4ee2-b532-e94a2b98c07f 7a62fd11-7a78-4cde-bacd-b5d2ceb6cdb4 g.chr6:29455436C>G ENST00000377127.3 - 1 302 c.244G>C c.(244-246)Gct>Cct p.A82P NM_052967.1 NP_443199.1 P35410 MAS1L_HUMAN MAS1 oncogene-like 82 cytoplasm|integral to membrane|nucleus|plasma membrane G-protein coupled receptor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2) 28 ACCAGCACAGCCTTGGGGGCA 0.517000 13 32 0 0 1 0 0 KAT7 11143 broad.mit.edu 37 17 47904073 47904073 + Missense_Mutation SNP C C T TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a52fb9cb-1e02-4ee2-b532-e94a2b98c07f 7a62fd11-7a78-4cde-bacd-b5d2ceb6cdb4 g.chr17:47904073C>T ENST00000503935.2 + 14 2214 c.1178C>T c.(1177-1179)gCt>gTt p.A393V KAT7_ENST00000435742.2_Missense_Mutation_p.A363V|KAT7_ENST00000510819.1_Missense_Mutation_p.A380V|KAT7_ENST00000259021.4_Missense_Mutation_p.A549V|KAT7_ENST00000509773.1_Missense_Mutation_p.A439V|KAT7_ENST00000513980.1_3'UTR|KAT7_ENST00000424009.2_Missense_Mutation_p.A519V|KAT7_ENST00000454930.2_Missense_Mutation_p.A410V O95251 MYST2_HUMAN K(lysine) acetyltransferase 7 549 DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding CAGGAGACGGCTGTGAATCCT 0.478000 12 164 0 0 1 0 0 PPIL3 53938 broad.mit.edu 37 2 201741737 201741737 + Silent SNP A A C TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a52fb9cb-1e02-4ee2-b532-e94a2b98c07f 7a62fd11-7a78-4cde-bacd-b5d2ceb6cdb4 g.chr2:201741737A>C ENST00000286175.8 - 6 659 c.276T>G c.(274-276)tcT>tcG p.S92S PPIL3_ENST00000409361.1_Silent_p.S84S|PPIL3_ENST00000409449.1_Silent_p.S92S|PPIL3_ENST00000392283.4_Silent_p.S88S|PPIL3_ENST00000465823.1_5'UTR NM_032472.3 NP_115861.1 Q9H2H8 PPIL3_HUMAN peptidylprolyl isomerase (cyclophilin)-like 3 88 PPIase cyclophilin-type. protein folding catalytic step 2 spliceosome peptidyl-prolyl cis-trans isomerase activity|protein binding endometrium(1)|lung(2) 3 TATTAGCCATAGATACAACAC 0.378000 29 52 0 0 1 0 0 SGOL2 151246 broad.mit.edu 37 2 201437932 201437932 + Missense_Mutation SNP C C A TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a52fb9cb-1e02-4ee2-b532-e94a2b98c07f 7a62fd11-7a78-4cde-bacd-b5d2ceb6cdb4 g.chr2:201437932C>A ENST00000357799.4 + 7 2961 c.2863C>A c.(2863-2865)Caa>Aaa p.Q955K NM_001160033.1|NM_001160046.1|NM_152524.5 NP_001153505.1|NP_001153518.1|NP_689737.4 Q562F6 SGOL2_HUMAN shugoshin-like 2 (S. pombe) 955 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|mitotic cohesin complex protein binding NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 46 ACTTGAATGCCAAGACATTAT 0.279000 3 54 1 1 1 1 0 UBA6 55236 broad.mit.edu 37 4 68529644 68529644 + Missense_Mutation SNP T T G TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a52fb9cb-1e02-4ee2-b532-e94a2b98c07f 7a62fd11-7a78-4cde-bacd-b5d2ceb6cdb4 g.chr4:68529644T>G ENST00000322244.4 - 11 978 c.919A>C c.(919-921)Aaa>Caa p.K307Q UBA6_ENST00000420827.2_Missense_Mutation_p.K307Q NM_018227.5 NP_060697.4 A0AVT1 UBA6_HUMAN ubiquitin-like modifier activating enzyme 6 307 protein ubiquitination|ubiquitin-dependent protein catabolic process cytoplasm ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2) 44 TTTGGATGTTTTAACTGCCTC 0.393000 18 107 0 0 1 0 0 CIT 11113 broad.mit.edu 37 12 120128095 120128095 + Missense_Mutation SNP C C T TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a52fb9cb-1e02-4ee2-b532-e94a2b98c07f 7a62fd11-7a78-4cde-bacd-b5d2ceb6cdb4 g.chr12:120128095C>T ENST00000392521.2 - 47 6102 c.6047G>A c.(6046-6048)cGc>cAc p.R2016H CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Missense_Mutation_p.R1974H NM_001206999.1 NP_001193928.1 O14578 CTRO_HUMAN citron (rho-interacting, serine/threonine kinase 21) 1974 intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 86 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) CTCCAGGGGGCGGCCAGGAGA 0.731000 3 28 0 0 1 0 0 DYNC2H1 79659 broad.mit.edu 37 11 103124113 103124113 + Missense_Mutation SNP C C T TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a52fb9cb-1e02-4ee2-b532-e94a2b98c07f 7a62fd11-7a78-4cde-bacd-b5d2ceb6cdb4 g.chr11:103124113C>T ENST00000375735.2 + 66 10286 c.10142C>T c.(10141-10143)cCg>cTg p.P3381L DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.P3388L NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 3381 AAA 5 (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) TTTATTCCACCGGATGCAGCT 0.368000 9 83 0 0 1 0 0 HTRA1 5654 broad.mit.edu 37 10 124268260 124268260 + Missense_Mutation SNP C C T rs139620409 byFrequency TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a52fb9cb-1e02-4ee2-b532-e94a2b98c07f 7a62fd11-7a78-4cde-bacd-b5d2ceb6cdb4 g.chr10:124268260C>T ENST00000368984.3 + 6 1222 c.1094C>T c.(1093-1095)aCg>aTg p.T365M NM_002775.4 NP_002766.1 Q92743 HTRA1_HUMAN HtrA serine peptidase 1 365 PDZ. proteolysis|regulation of cell growth extracellular space insulin-like growth factor binding|serine-type endopeptidase activity endometrium(1)|kidney(1)|large_intestine(8)|lung(7) 17 all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238) AAGTTCCTCACGGAGTCCCAT 0.522000 4 123 0 0 1 0 0 PRKCA 5578 broad.mit.edu 37 17 64641607 64641607 + Silent SNP T T C TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a52fb9cb-1e02-4ee2-b532-e94a2b98c07f 7a62fd11-7a78-4cde-bacd-b5d2ceb6cdb4 g.chr17:64641607T>C ENST00000413366.3 + 5 533 c.507T>C c.(505-507)gcT>gcC p.A169A NM_002737.2 NP_002728.1 P17252 KPCA_HUMAN protein kinase C, alpha 169 activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 38 BRCA - Breast invasive adenocarcinoma(6;4.68e-09) Phosphatidylserine(DB00144)|Vitamin E(DB00163) CTGAGGTTGCTGATGAAAAGC 0.512000 4 129 0 0 1 0 0 DSG4 147409 broad.mit.edu 37 18 28991130 28991130 + Missense_Mutation SNP G G A TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a52fb9cb-1e02-4ee2-b532-e94a2b98c07f 7a62fd11-7a78-4cde-bacd-b5d2ceb6cdb4 g.chr18:28991130G>A ENST00000359747.4 + 14 2160 c.2131G>A c.(2131-2133)Gtt>Att p.V711I RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000308128.4_Intron NM_001134453.1 NP_001127925.1 Q86SJ6 DSG4_HUMAN desmoglein 4 699 homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) CGGCGGCAGCGTTTTAGGCAG 0.567000 4 29 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38858534 38858534 + Silent SNP T T G TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a52fb9cb-1e02-4ee2-b532-e94a2b98c07f 7a62fd11-7a78-4cde-bacd-b5d2ceb6cdb4 g.chr6:38858534T>G ENST00000359357.3 + 56 8183 c.7929T>G c.(7927-7929)acT>acG p.T2643T DNAH8_ENST00000449981.2_Silent_p.T2860T|DNAH8_ENST00000441566.1_Silent_p.T2607T dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 GGCAATGGACTAAGGTACAGA 0.358000 32 69 0 0 1 0 0 SLC4A10 57282 broad.mit.edu 37 2 162361620 162361620 + RNA DEL T T - TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a52fb9cb-1e02-4ee2-b532-e94a2b98c07f 7a62fd11-7a78-4cde-bacd-b5d2ceb6cdb4 g.chr2:162361620delT ENST00000605990.1 + 0 344 TGAGGGCTTGTCTGTGCTCGC 0.433 12 56 --- --- --- --- DYNC1I2 1781 broad.mit.edu 37 2 172546761 172546762 + Frame_Shift_Ins INS - - A TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a52fb9cb-1e02-4ee2-b532-e94a2b98c07f 7a62fd11-7a78-4cde-bacd-b5d2ceb6cdb4 g.chr2:172546761_172546762insA ENST00000534253.2 + 2 264_265 c.96_97insA c.(94-99)agaaaafs p.RK32fs DYNC1I2_ENST00000358002.6_Frame_Shift_Ins_p.RK32fs|DYNC1I2_ENST00000508530.1_Frame_Shift_Ins_p.RK32fs|DYNC1I2_ENST00000410079.3_Frame_Shift_Ins_p.RK32fs|DYNC1I2_ENST00000397119.3_Frame_Shift_Ins_p.RK32fs|DYNC1I2_ENST00000409453.1_Frame_Shift_Ins_p.RK32fs|DYNC1I2_ENST00000409317.1_Frame_Shift_Ins_p.RK32fs|DYNC1I2_ENST00000409773.1_Frame_Shift_Ins_p.RK32fs|DYNC1I2_ENST00000409197.1_Frame_Shift_Ins_p.RK32fs|DYNC1I2_ENST00000263811.4_Frame_Shift_Ins_p.RK32fs|DYNC1I2_ENST00000340296.4_Frame_Shift_Ins_p.RK32fs Q13409 DC1I2_HUMAN dynein, cytoplasmic 1, intermediate chain 2 32 G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport centrosome|cytosol|dynein complex|microtubule|vesicle microtubule motor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1) 15 OV - Ovarian serous cystadenocarcinoma(117;0.198) aagaagaaaggaaaaaaaaaga 0.312 2 4 --- --- --- --- ZNF330 27309 broad.mit.edu 37 4 142143532 142143532 + Frame_Shift_Del DEL A A - TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a52fb9cb-1e02-4ee2-b532-e94a2b98c07f 7a62fd11-7a78-4cde-bacd-b5d2ceb6cdb4 g.chr4:142143532delA ENST00000262990.4 + 2 235 c.7delA c.(7-9)aafs p.K5fs ZNF330_ENST00000421169.2_5'UTR NM_014487.4 NP_055302.1 Q9Y3S2 ZN330_HUMAN zinc finger protein 330 5 chromosome, centromeric region|midbody|nucleolus protein binding|zinc ion binding p.K5fs*18(1) kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 14 all_hematologic(180;0.162) GAAAATGCCTAAAAAAAAGAC 0.353 7 30 --- --- --- --- ERICH1-AS1 619343 broad.mit.edu 37 8 844731 844732 + RNA INS - - G TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a52fb9cb-1e02-4ee2-b532-e94a2b98c07f 7a62fd11-7a78-4cde-bacd-b5d2ceb6cdb4 g.chr8:844731_844732insG ENST00000524139.1 + 0 151 ERICH1-AS1_ENST00000522092.1_RNA|ERICH1-AS1_ENST00000577187.1_RNA|ERICH1-AS1_ENST00000578889.1_RNA GGTGGCTGGCAGGGCAGGGTGG 0.713 3 6 --- --- --- --- RFX7 64864 broad.mit.edu 37 15 56535420 56535421 + Frame_Shift_Ins INS - - G TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a52fb9cb-1e02-4ee2-b532-e94a2b98c07f 7a62fd11-7a78-4cde-bacd-b5d2ceb6cdb4 g.chr15:56535420_56535421insG ENST00000423270.1 - 1 62_63 c.63_64insC c.(61-66)ccgcgcfs p.R22fs RFX7_ENST00000559447.2_5'UTR|RFX7_ENST00000317318.6_Frame_Shift_Ins_p.R22fs|RFX7_ENST00000422057.1_5'UTR NM_022841.5 NP_073752.5 Q2KHR2 RFX7_HUMAN regulatory factor X, 7 666 regulation of transcription, DNA-dependent nucleus DNA binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 TTGGGGGCGCTGGGGGGAAGCT 0.653 2 4 --- --- --- --- DNAH3 55567 broad.mit.edu 37 16 21132130 21132132 + In_Frame_Del DEL CAG CAG - TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a52fb9cb-1e02-4ee2-b532-e94a2b98c07f 7a62fd11-7a78-4cde-bacd-b5d2ceb6cdb4 g.chr16:21132130_21132132delCAG ENST00000261383.3 - 11 1627_1629 c.1628_1630delCTG c.(1627-1632)gat>g p.AD543del CTC-508F8.1_ENST00000575612.1_RNA|DNAH3_ENST00000415178.1_In_Frame_Del_p.AD543del NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 543 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) CATTGCCGATCAGCAGCAGCAGC 0.498 7 116 --- --- --- --- CTB-147C22.9 0 broad.mit.edu 37 19 51478657 51478657 + RNA DEL T T - rs71185783 TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a52fb9cb-1e02-4ee2-b532-e94a2b98c07f 7a62fd11-7a78-4cde-bacd-b5d2ceb6cdb4 g.chr19:51478657delT ENST00000594512.1 + 0 297 gaggggctggtggggggggtt 0.687 2 4 --- --- --- --- CTB-147C22.9 0 broad.mit.edu 37 19 51478666 51478666 + RNA DEL T T - TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 Untested Somatic Phase_I WXS none Illumina GAIIx a52fb9cb-1e02-4ee2-b532-e94a2b98c07f 7a62fd11-7a78-4cde-bacd-b5d2ceb6cdb4 g.chr19:51478666delT ENST00000594512.1 + 0 297 gtggggggggttctgaactcc 0.687 2 4 --- --- --- ---