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 AC022596.6 0 broad.mit.edu 37 17 16725554 16725554 + RNA SNP C C T TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr17:16725554C>T ENST00000417510.1 - 0 339 ccatatcctcctccaaagcca 0.622000 4 102 0 0 1 0 0 GPIHBP1 338328 broad.mit.edu 37 8 144296991 144296991 + Silent SNP C C T rs138215873 byFrequency TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr8:144296991C>T ENST00000330824.2 + 3 360 c.285C>T c.(283-285)caC>caT p.H95H NM_178172.3 NP_835466.1 Q8IV16 HDBP1_HUMAN glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 95 UPAR/Ly6. cholesterol homeostasis|intracellular protein transport|positive regulation of chylomicron remnant clearance|positive regulation of lipoprotein lipase activity|protein import|protein localization at cell surface|protein stabilization|response to heparin|triglyceride homeostasis anchored to external side of plasma membrane|apical plasma membrane|basolateral plasma membrane|high-density lipoprotein particle|integral to membrane|intracellular apolipoprotein binding|chylomicron binding|lipase binding|lipid binding|protein transmembrane transporter activity lung(2) 2 all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) TCATTGCCCACGGGAACACCG 0.667000 5 57 0 0 1 0 0 PCDHB16 0 broad.mit.edu 37 5 140563385 140563385 + Silent SNP T T C rs115003049 byFrequency TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr5:140563385T>C ENST00000361016.2 + 1 2406 c.1251T>C c.(1249-1251)taT>taC p.Y417Y NM_020957.1 NP_066008.1 Q9NRJ7 PCDBG_HUMAN 417 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1) 69 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GAGCTGAATATAATATCACCC 0.458000 10 215 0 0 1 0 0 IRS1 3667 broad.mit.edu 37 2 227659846 227659846 + Silent SNP T T G TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr2:227659846T>G ENST00000305123.4 - 1 4629 c.3609A>C c.(3607-3609)ccA>ccC p.P1203P IRS1_ENST00000498335.1_5'UTR NM_005544.2 NP_005535.1 P35568 IRS1_HUMAN insulin receptor substrate 1 1203 Pro-rich. fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity caveola|cytosol|insulin receptor complex|microsome|nucleus insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2) 69 Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23) Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137) GGGGTGGGGGTGGGGGAGGCT 0.582000 11 72 0 0 1 0 0 RP1-37N7.4 0 broad.mit.edu 37 17 18333915 18333915 + RNA SNP C C T rs148961204 by1000genomes TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr17:18333915C>T ENST00000580052.1 + 0 43 KRT17P2_ENST00000326333.8_RNA CAGAGAACCGCTACTGCATGC 0.612000 3 28 0 0 1 0 0 PDS5A 23244 broad.mit.edu 37 4 39918684 39918684 + Missense_Mutation SNP A A G TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr4:39918684A>G ENST00000303538.8 - 8 1399 c.860T>C c.(859-861)cTt>cCt p.L287P PDS5A_ENST00000503396.1_Missense_Mutation_p.L287P NM_001100399.1 NP_001093869.1 Q29RF7 PDS5A_HUMAN PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) 287 cell division|mitosis|negative regulation of DNA replication chromatin|nucleus identical protein binding breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1) 39 TTTGAATTCAAGCTGTGGCAT 0.313000 3 24 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 5 141 0 0 1 0 0 PDZRN3 23024 broad.mit.edu 37 3 73433272 73433272 + Silent SNP G G A rs61739225 byFrequency TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr3:73433272G>A ENST00000263666.4 - 10 2559 c.2445C>T c.(2443-2445)ccC>ccT p.P815P PDZRN3_ENST00000479530.1_Silent_p.P532P|PDZRN3_ENST00000466780.1_Silent_p.P472P|PDZRN3_ENST00000535920.1_Silent_p.P537P|PDZRN3_ENST00000462146.2_Silent_p.P472P NM_015009.1 NP_055824.1 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 815 ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) TGCCCACTTCGGGATCTTCCG 0.662000 10 159 0 0 1 0 0 DAGLA 747 broad.mit.edu 37 11 61511242 61511242 + Missense_Mutation SNP C C T TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr11:61511242C>T ENST00000257215.5 + 20 2526 c.2410C>T c.(2410-2412)Cgg>Tgg p.R804W NM_006133.2 NP_006124.1 Q9Y4D2 DGLA_HUMAN diacylglycerol lipase, alpha 804 cell death|lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 43 READ - Rectum adenocarcinoma(4;0.219) CCGCAGCATCCGGGGCTCCCC 0.662000 14 286 0 0 1 0 0 TMCO4 255104 broad.mit.edu 37 1 20009578 20009578 + Silent SNP G G A TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr1:20009578G>A ENST00000294543.6 - 16 2101 c.1860C>T c.(1858-1860)ccC>ccT p.P620P TMCO4_ENST00000489814.1_5'UTR|TMCO4_ENST00000375122.2_Silent_p.P580P|TMCO4_ENST00000375127.1_Intron NM_181719.4 NP_859070.3 Q5TGY1 TMCO4_HUMAN transmembrane and coiled-coil domains 4 620 integral to membrane biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1) 19 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223) AGGCACAATCGGGGCAGCCCA 0.652000 52 167 0 0 1 0 0 POM121 9883 broad.mit.edu 37 7 72413896 72413896 + Missense_Mutation SNP A A G TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr7:72413896A>G ENST00000395270.1 + 14 3610 c.2569A>G c.(2569-2571)Acc>Gcc p.T857A POM121_ENST00000257622.4_Missense_Mutation_p.T857A|POM121_ENST00000358357.3_Missense_Mutation_p.T857A|POM121_ENST00000446813.1_Missense_Mutation_p.T857A|POM121_ENST00000434423.2_Missense_Mutation_p.T1122A NM_001257190.1 NP_001244119.1 Q96HA1 P121A_HUMAN POM121 transmembrane nucleoporin 1122 Pore side (Potential).|Thr-rich. carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore p.T857A(8) NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Lung NSC(55;0.163) AGGCTCCAGCACCACCACCGG 0.637000 3 48 0 0 1 0 0 IRF2BP1 26145 broad.mit.edu 37 19 46387941 46387941 + Silent SNP G G A TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr19:46387941G>A ENST00000302165.3 - 1 1435 c.1092C>T c.(1090-1092)ggC>ggT p.G364G NM_015649.1 NP_056464.1 Q8IU81 I2BP1_HUMAN interferon regulatory factor 2 binding protein 1 364 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus cervix(1)|kidney(1)|lung(2) 4 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231) GCGGGGGTGGGCCACAGAGAG 0.756000 5 49 0 0 1 0 0 EEF1D 1936 broad.mit.edu 37 8 144671277 144671277 + Silent SNP G G A TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr8:144671277G>A ENST00000532741.1 - 1 1353 c.1125C>T c.(1123-1125)gcC>gcT p.A375A EEF1D_ENST00000528610.1_Intron|EEF1D_ENST00000524624.1_Intron|EEF1D_ENST00000419152.2_Intron|EEF1D_ENST00000526838.1_Intron|EEF1D_ENST00000531621.1_Intron|EEF1D_ENST00000317198.6_Intron|EEF1D_ENST00000423316.2_Silent_p.A325A|EEF1D_ENST00000442189.2_Silent_p.A325A|EEF1D_ENST00000529272.1_Intron|EEF1D_ENST00000395119.3_Intron|EEF1D_ENST00000532400.1_Intron P29692 EF1D_HUMAN eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein) 0 positive regulation of I-kappaB kinase/NF-kappaB cascade cytosol|eukaryotic translation elongation factor 1 complex protein binding|signal transducer activity|translation elongation factor activity breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239) GGCGGCACTCGGCGCTGTCGT 0.692000 3 28 0 0 1 0 0 SPATA31A6 389730 broad.mit.edu 37 9 43625382 43625382 + Missense_Mutation SNP G G A rs143826416 by1000genomes TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr9:43625382G>A ENST00000332857.6 - 4 3333 c.3305C>T c.(3304-3306)cCt>cTt p.P1102L NM_001145196.1 NP_001138668.1 SPATA31 subfamily A, member 6 CTTGTGAATAGGGGGAAACAT 0.483000 14 426 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228437749 228437749 + Missense_Mutation SNP G G A TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr1:228437749G>A ENST00000570156.2 + 15 4467 c.4393G>A c.(4393-4395)Gag>Aag p.E1465K OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.E1373K|OBSCN_ENST00000422127.1_Missense_Mutation_p.E1373K NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 443 Ig-like 15. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GCTGAGCTGCGAGGTGGCCCA 0.637000 6 193 0 0 1 0 0 MMP11 4320 broad.mit.edu 37 22 24123183 24123183 + Missense_Mutation SNP G G A TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr22:24123183G>A ENST00000215743.3 + 5 806 c.754G>A c.(754-756)Ggc>Agc p.G252S MMP11_ENST00000477567.1_3'UTR NM_005940.3 NP_005931.2 P24347 MMP11_HUMAN matrix metallopeptidase 11 (stromelysin 3) 252 collagen catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 27 Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318) TGACTGCAGGGGCGTTCAACA 0.622000 5 98 0 0 1 0 0 ZNF814 730051 broad.mit.edu 37 19 58385546 58385546 + Missense_Mutation SNP G G T TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr19:58385546G>T ENST00000435989.2 - 3 1446 c.1212C>A c.(1210-1212)gaC>gaA p.D404E ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 404 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.D404E(10) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 AATGTTTTTTGTCAGTGTGAA 0.393000 4 37 0.00909568 0.0092275 1 1 0 ZNF526 116115 broad.mit.edu 37 19 42729121 42729121 + Missense_Mutation SNP C C T rs150807158 byFrequency TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr19:42729121C>T ENST00000301215.3 + 3 791 c.566C>T c.(565-567)cCa>cTa p.P189L NM_133444.1 NP_597701.1 Q8TF50 ZN526_HUMAN zinc finger protein 526 189 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3) 22 Prostate(69;0.0704) CCTTCTCCCCCATCCGAAGTC 0.597000 14 338 0 0 1 0 0 TMEM8C 389827 broad.mit.edu 37 9 136389882 136389882 + Missense_Mutation SNP G G A TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr9:136389882G>A ENST00000339996.3 - 1 186 c.85C>T c.(85-87)Cgg>Tgg p.R29W TMEM8C_ENST00000413714.1_Intron NM_001080483.2 NP_001073952.1 A6NI61 TMM8C_HUMAN transmembrane protein 8C 29 integral to membrane NS(1)|autonomic_ganglia(1)|large_intestine(2)|lung(4) 8 ATGTGGAACCGCCTCTTGGCC 0.652000 5 129 0 0 1 0 0 NOTCH1 4851 broad.mit.edu 37 9 139410437 139410437 + Silent SNP C C T rs148331061 by1000genomes TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr9:139410437C>T ENST00000277541.6 - 10 1740 c.1665G>A c.(1663-1665)acG>acA p.T555T NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 555 EGF-like 14; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) CCGCACCTTCCGTGCACACAC 0.632000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 4 58 0 0 1 0 0 KREMEN2 79412 broad.mit.edu 37 16 3016732 3016732 + Silent SNP C C T TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr16:3016732C>T ENST00000572045.1 + 5 881 c.576C>T c.(574-576)gaC>gaT p.D192D KREMEN2_ENST00000575885.1_Intron|KREMEN2_ENST00000319500.6_Silent_p.D192D|KREMEN2_ENST00000303746.5_Silent_p.D192D|KREMEN2_ENST00000571007.1_Intron|KREMEN2_ENST00000575769.1_Silent_p.D192D NM_172229.2 NP_757384.1 Q8NCW0 KREM2_HUMAN kringle containing transmembrane protein 2 192 WSC. Missing (in Ref. 2; BAC11365). Wnt receptor signaling pathway integral to membrane central_nervous_system(2)|endometrium(1)|large_intestine(1) 4 CCGACTGTGACCAGATCTGTT 0.706000 5 60 0 0 1 0 0 RPF2 84154 broad.mit.edu 37 6 111346773 111346773 + Silent SNP T T A TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr6:111346773T>A ENST00000441448.2 + 10 1001 c.909T>A c.(907-909)atT>atA p.I303I NM_032194.1 NP_115570.1 Q9H7B2 RPF2_HUMAN ribosome production factor 2 homolog (S. cerevisiae) 303 nucleolus protein binding p.I303I(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2) 7 CAAAAAGAATTAAAAAAAATT 0.368000 9 47 0 0 1 0 0 KIF26B 55083 broad.mit.edu 37 1 245850296 245850296 + Silent SNP C C T rs114792430 by1000genomes TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr1:245850296C>T ENST00000366518.4 + 9 2972 c.2868C>T c.(2866-2868)ccC>ccT p.P956P KIF26B_ENST00000407071.2_Silent_p.P1337P Q2KJY2 KI26B_HUMAN kinesin family member 26B 1337 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity p.P1337P(2) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) AGGCCAGCCCCGACAACTTGC 0.562000 5 55 0 0 1 0 0 P2RY2 5029 broad.mit.edu 37 11 72945651 72945651 + Silent SNP C C T rs147817701 byFrequency TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr11:72945651C>T ENST00000311131.2 + 3 914 c.447C>T c.(445-447)taC>taT p.Y149Y P2RY2_ENST00000393596.2_Silent_p.Y149Y|P2RY2_ENST00000393597.2_Silent_p.Y149Y NM_002564.2|NM_176072.1 NP_002555.2|NP_788086.1 P41231 P2RY2_HUMAN purinergic receptor P2Y, G-protein coupled, 2 149 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2) 25 Suramin(DB04786) GGGCCCGCTACGCTCGCCGGG 0.697000 9 168 0 0 1 0 0 SCN5A 6331 broad.mit.edu 37 3 38651442 38651442 + Silent SNP G G A rs41285129 TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr3:38651442G>A ENST00000413689.1 - 7 910 c.717C>T c.(715-717)atC>atT p.I239I SCN5A_ENST00000455624.2_Silent_p.I239I|SCN5A_ENST00000414099.2_Silent_p.I239I|SCN5A_ENST00000449557.2_Silent_p.I239I|SCN5A_ENST00000333535.4_Silent_p.I239I|SCN5A_ENST00000450102.2_Silent_p.I239I|SCN5A_ENST00000443581.1_Silent_p.I239I|SCN5A_ENST00000423572.2_Silent_p.I239I|SCN5A_ENST00000425664.1_Silent_p.I239I|SCN5A_ENST00000451551.2_Silent_p.I239I NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 239 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) GGGCCCCCACGATGGTCTTCA 0.617000 5 153 0 0 1 0 0 LAMB4 22798 broad.mit.edu 37 7 107752270 107752270 + Nonsense_Mutation SNP C C T TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr7:107752270C>T ENST00000388781.3 - 4 397 c.314G>A c.(313-315)tGg>tAg p.W105* LAMB4_ENST00000414450.2_Nonsense_Mutation_p.W105*|LAMB4_ENST00000388780.3_Nonsense_Mutation_p.W105*|LAMB4_ENST00000205386.4_Nonsense_Mutation_p.W105* NM_007356.2 NP_031382.2 A4D0S4 LAMB4_HUMAN laminin, beta 4 105 Laminin N-terminal. cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 TTCAGATTGCCACCATTTCTT 0.348000 12 219 0 0 1 0 0 NISCH 11188 broad.mit.edu 37 3 52526279 52526279 + Silent SNP C C T rs61737697 byFrequency TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr3:52526279C>T ENST00000345716.4 + 21 4430 c.4296C>T c.(4294-4296)ctC>ctT p.L1432L NISCH_ENST00000479054.1_Silent_p.L1432L NM_007184.3 NP_009115.2 Q9Y2I1 NISCH_HUMAN nischarin 1432 apoptosis|cell communication cytosol|early endosome|plasma membrane|recycling endosome phosphatidylinositol binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 33 BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577) CCCTCACCCTCGTCTTCGATG 0.672000 14 371 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 51 174 0 0 1 0 0 LRWD1 222229 broad.mit.edu 37 7 102110079 102110079 + Silent SNP C C T rs142392925 byFrequency TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr7:102110079C>T ENST00000292616.5 + 10 1439 c.1287C>T c.(1285-1287)taC>taT p.Y429Y NM_152892.1 NP_690852.1 Q9UFC0 LRWD1_HUMAN leucine-rich repeats and WD repeat domain containing 1 429 chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin chromatin binding|methyl-CpG binding|methylated histone residue binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2) 20 ACCAGGACTACGAATTCCAGG 0.632000 7 144 0 0 1 0 0 KRT16P3 0 broad.mit.edu 37 17 20406406 20406406 + RNA SNP C C T rs148301399 TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr17:20406406C>T ENST00000580113.1 - 0 660 CGTGGTTCTTCCTCAGGTAGG 0.627000 4 82 0 0 1 0 0 PCK2 5106 broad.mit.edu 37 14 24568395 24568395 + Missense_Mutation SNP A A G rs146890792 byFrequency TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr14:24568395A>G ENST00000545054.2 + 5 1318 c.400A>G c.(400-402)Atc>Gtc p.I134V PCK2_ENST00000558096.1_Missense_Mutation_p.I134V|PCK2_ENST00000561286.1_Missense_Mutation_p.I134V|PCK2_ENST00000216780.4_Missense_Mutation_p.I268V|NRL_ENST00000561028.1_Intron|PCK2_ENST00000396973.4_Missense_Mutation_p.I268V|PCK2_ENST00000559250.1_Missense_Mutation_p.I280V Q16822 PCKGM_HUMAN phosphoenolpyruvate carboxykinase 2 (mitochondrial) 268 gluconeogenesis mitochondrial matrix GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 18 GBM - Glioblastoma multiforme(265;0.0184) TGCCCTACGCATCGCCTCTCG 0.662000 5 91 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124345796 124345796 + Missense_Mutation SNP C C G rs143892520 by1000genomes TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr10:124345796C>G ENST00000338354.3 + 16 1786 c.1680C>G c.(1678-1680)gaC>gaG p.D560E DMBT1_ENST00000344338.3_Missense_Mutation_p.D550E|DMBT1_ENST00000368955.3_Missense_Mutation_p.D550E|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368909.3_Missense_Mutation_p.D560E|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000330163.4_Intron Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 560 SRCR 4. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding p.D560D(1) breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TCCTGGATGACGTGCGCTGCT 0.592000 12 382 0 0 1 0 0 GPS1 2873 broad.mit.edu 37 17 80012657 80012657 + Missense_Mutation SNP G G A rs149095451 TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr17:80012657G>A ENST00000392358.2 + 4 1049 c.700G>A c.(700-702)Gtc>Atc p.V234I GPS1_ENST00000578552.1_Missense_Mutation_p.V194I|GPS1_ENST00000320548.4_Missense_Mutation_p.V178I|GPS1_ENST00000355130.2_Missense_Mutation_p.V234I|GPS1_ENST00000306823.6_Missense_Mutation_p.V198I NM_212492.1 NP_997657.1 Q13098 CSN1_HUMAN G protein pathway suppressor 1 198 cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade cytoplasm|signalosome GTPase inhibitor activity|protein binding breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2) 13 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211) CGCCAAACACGTCATCAACAT 0.662000 4 78 0 0 1 0 0 IL17RA 23765 broad.mit.edu 37 22 17583105 17583105 + Silent SNP C C T TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr22:17583105C>T ENST00000319363.6 + 7 808 c.675C>T c.(673-675)aaC>aaT p.N225N NM_014339.5 NP_055154.3 Q96F46 I17RA_HUMAN interleukin 17 receptor A 225 fibroblast activation|positive regulation of interleukin-23 production integral to plasma membrane interleukin-17 receptor activity endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1) 30 all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132) Colorectal(9;0.241) CCCTGTGGAACGAATCTACCC 0.572000 7 159 0 0 1 0 0 MEGF6 1953 broad.mit.edu 37 1 3427403 3427403 + Missense_Mutation SNP T T C TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr1:3427403T>C ENST00000356575.4 - 10 1404 c.1178A>G c.(1177-1179)tAc>tGc p.Y393C MEGF6_ENST00000294599.4_Missense_Mutation_p.Y288C NM_001409.3 NP_001400.3 O75095 MEGF6_HUMAN multiple EGF-like-domains 6 393 EGF-like 7. extracellular region calcium ion binding cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105) all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211) Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213) GCCGCACTCGTACCCGCCAGG 0.687000 4 100 0 0 1 0 0 PMS2CL 0 broad.mit.edu 37 7 6786731 6786731 + RNA SNP C C T rs111706670 by1000genomes TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr7:6786731C>T ENST00000486256.1 + 0 2028 NR_002217.1 CCTTCGGACCCCAGGACGTCG 0.502000 6 170 0 0 1 0 0 SOGA3 387104 broad.mit.edu 37 6 127837687 127837687 + Missense_Mutation SNP C C T TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr6:127837687C>T ENST00000556132.1 - 2 937 c.73G>A c.(73-75)Gct>Act p.A25T SOGA3_ENST00000465909.2_Missense_Mutation_p.A25T|SOGA3_ENST00000525778.1_Missense_Mutation_p.A25T|SOGA3_ENST00000481848.2_Missense_Mutation_p.A25T|SOGA3_ENST00000368268.2_Missense_Mutation_p.A25T NM_001012279.2 NP_001012279.1 Q5TF21 CF174_HUMAN SOGA family member 3 25 integral to membrane TGCAGACGAGCCTCAGTGGCT 0.647000 4 27 0 0 1 0 0 RAET1K 0 broad.mit.edu 37 6 150322211 150322211 + RNA SNP C C T rs9397541 by1000genomes TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr6:150322211C>T ENST00000533735.1 - 0 665 NR_024045.1 GATCCTCTGCCGTGTCCGTGG 0.498000 5 139 0 0 1 0 0 SLC52A2 79581 broad.mit.edu 37 8 145583505 145583505 + Missense_Mutation SNP C C A rs117500243 byFrequency TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr8:145583505C>A ENST00000532887.1 + 3 936 c.353C>A c.(352-354)gCc>gAc p.A118D SLC52A2_ENST00000526891.1_3'UTR|SLC52A2_ENST00000402965.1_Missense_Mutation_p.A118D|SLC52A2_ENST00000329994.2_Missense_Mutation_p.A118D|SLC52A2_ENST00000540505.1_Missense_Mutation_p.A30D|SLC52A2_ENST00000530047.1_Missense_Mutation_p.A118D|SLC52A2_ENST00000526752.1_Intron|SLC52A2_ENST00000527078.1_Missense_Mutation_p.A118D Q9HAB3 RFT3_HUMAN solute carrier family 52 (riboflavin transporter), member 2 118 integral to plasma membrane receptor activity|riboflavin transporter activity TTAGCACTGGCCTTTGTGCTG 0.592000 10 256 2.17888e-05 2.29355e-05 1 1 0 PANX2 56666 broad.mit.edu 37 22 50617591 50617591 + Missense_Mutation SNP G G A TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr22:50617591G>A ENST00000395842.2 + 3 1919 c.1919G>A c.(1918-1920)gGg>gAg p.G640E PANX2_ENST00000159647.5_Intron NM_052839.3 NP_443071.2 Q96RD6 PANX2_HUMAN pannexin 2 640 protein hexamerization|synaptic transmission gap junction|integral to membrane gap junction hemi-channel activity|ion channel activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1) 7 all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.105) GAGGAGGACGGGGGCCCCCGC 0.682000 3 35 0 0 1 0 0 TCTE1 202500 broad.mit.edu 37 6 44250215 44250215 + Missense_Mutation SNP C C T rs146833594 byFrequency TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr6:44250215C>T ENST00000371505.4 - 4 1050 c.928G>A c.(928-930)Gag>Aag p.E310K TCTE1_ENST00000371504.1_Intron|TCTE1_ENST00000371503.3_Intron|TMEM151B_ENST00000438774.2_Intron NM_182539.3 NP_872345.2 Q5JU00 TCTE1_HUMAN t-complex-associated-testis-expressed 1 310 breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) TCCAGCTCCTCGAGGACTGGG 0.572000 7 168 0 0 1 0 0 FGD5 152273 broad.mit.edu 37 3 14861538 14861538 + Silent SNP C C T TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr3:14861538C>T ENST00000285046.5 + 1 1070 c.960C>T c.(958-960)tcC>tcT p.S320S FGD5_ENST00000543601.1_Silent_p.S79S NM_152536.3 NP_689749.3 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 320 Glu-rich. actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding p.S79S(1)|p.S320S(1) NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1) 54 AGGATGAGTCCGCCGAGGAGA 0.552000 15 166 0 0 1 0 0 PNMA5 114824 broad.mit.edu 37 X 152159280 152159280 + Missense_Mutation SNP C C T TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chrX:152159280C>T ENST00000439251.1 - 2 1301 c.863G>A c.(862-864)cGt>cAt p.R288H PNMA5_ENST00000361887.5_Missense_Mutation_p.R288H|PNMA5_ENST00000535214.1_Missense_Mutation_p.R288H|PNMA5_ENST00000452693.1_Missense_Mutation_p.R288H NM_001103150.1 NP_001096620.1 Q96PV4 PNMA5_HUMAN paraneoplastic Ma antigen family member 5 288 apoptosis breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Acute lymphoblastic leukemia(192;6.56e-05) ATGTTTCAGACGAATCATGTC 0.562000 44 50 0 0 1 0 0 MYBPHL 343263 broad.mit.edu 37 1 109839501 109839501 + Missense_Mutation SNP C C T rs140827712 TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr1:109839501C>T ENST00000357155.1 - 5 683 c.634G>A c.(634-636)Ggc>Agc p.G212S MYBPHL_ENST00000477962.1_Intron NM_001010985.2|NM_001265613.1 NP_001010985.2|NP_001252542.1 A2RUH7 MBPHL_HUMAN myosin binding protein H-like 212 Fibronectin type-III. central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2) 14 all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822) Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225) TAGGAGTTGCCGATGATGAGG 0.567000 6 134 0 0 1 0 0 SEZ6L2 26470 broad.mit.edu 37 16 29897052 29897052 + Silent SNP C C T rs150650092 byFrequency TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr16:29897052C>T ENST00000308713.5 - 8 1754 c.1227G>A c.(1225-1227)ggG>ggA p.G409G SEZ6L2_ENST00000537485.1_Silent_p.G365G|SEZ6L2_ENST00000350527.3_Silent_p.G339G|SEZ6L2_ENST00000346932.5_Silent_p.G295G NM_001114099.2|NM_201575.3 NP_001107571.1|NP_963869.2 Q6UXD5 SE6L2_HUMAN seizure related 6 homolog (mouse)-like 2 409 CUB 2. endoplasmic reticulum membrane|integral to membrane|plasma membrane breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GGGGGCTGCCCCCTGAGCGCA 0.582000 4 73 0 0 1 0 0 C21orf128 150147 broad.mit.edu 37 21 43523941 43523941 + Missense_Mutation SNP C C A rs220111 by1000genomes TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr21:43523941C>A ENST00000329015.2 - 2 443 c.292G>T c.(292-294)Gtc>Ttc p.V98F UMODL1_ENST00000400427.1_Intron|UMODL1_ENST00000408989.2_Intron|UMODL1_ENST00000400424.1_Intron|UMODL1_ENST00000408910.2_Intron chromosome 21 open reading frame 128 lung(4) 4 GTCGTGAAGACGTTGATGGAT 0.537000 4 80 0.00909568 0.0092275 1 1 0 LDB3 11155 broad.mit.edu 37 10 88441336 88441336 + Silent SNP C C T rs45516997 byFrequency TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr10:88441336C>T ENST00000429277.2 + 5 610 c.465C>T c.(463-465)ctC>ctT p.L155L LDB3_ENST00000361373.4_Silent_p.L155L|LDB3_ENST00000263066.6_Intron|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000310944.6_Silent_p.L155L|LDB3_ENST00000372056.4_Silent_p.L155L|LDB3_ENST00000542786.1_Silent_p.L155L|LDB3_ENST00000372066.3_Intron|LDB3_ENST00000458213.2_Intron NM_001171610.1 NP_001165081.1 O75112 LDB3_HUMAN LIM domain binding 3 155 cytoskeleton|perinuclear region of cytoplasm|pseudopodium zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1) 25 TCTCCTCACTCGCCGAGGCCT 0.736000 5 72 0 0 1 0 0 CDK3 1018 broad.mit.edu 37 17 73997474 73997474 + Translation_Start_Site SNP G G A rs2069528 by1000genomes TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr17:73997474G>A ENST00000425876.2 + 0 56 TEN1-CDK3_ENST00000567351.1_RNA|CDK3_ENST00000448471.1_Intron Q00526 CDK3_HUMAN cyclin-dependent kinase 3 cell division|cell proliferation|mitosis ATP binding|cyclin-dependent protein kinase activity central_nervous_system(1) 1 CAAATTGCCCGGTGCCTTCTG 0.622000 4 76 0 0 1 0 0 C9orf50 375759 broad.mit.edu 37 9 132375757 132375757 + Missense_Mutation SNP C C T TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr9:132375757C>T ENST00000372478.4 - 5 1201 c.1000G>A c.(1000-1002)Gag>Aag p.E334K NTMT1_ENST00000372486.1_Intron NM_199350.3 NP_955382.3 Q5SZB4 CI050_HUMAN chromosome 9 open reading frame 50 334 central_nervous_system(1)|endometrium(4)|large_intestine(2)|ovary(1)|skin(1)|urinary_tract(1) 10 Ovarian(14;0.00556) AGGGTCTCCTCCTTGGCCCCA 0.662000 8 100 0 0 1 0 0 KRT8P12 0 broad.mit.edu 37 3 160285898 160285898 + RNA SNP C C T rs4679895 by1000genomes TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr3:160285898C>T ENST00000468527.1 + 0 909 ACTCCAACATCCAGGCTGTAT 0.562000 5 122 0 0 1 0 0 ZNF212 7988 broad.mit.edu 37 7 148947484 148947484 + Missense_Mutation SNP G G A TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr7:148947484G>A ENST00000335870.2 + 2 387 c.259G>A c.(259-261)Ggg>Agg p.G87R NM_012256.3 NP_036388.2 Q9UDV6 ZN212_HUMAN zinc finger protein 212 87 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|identical protein binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1) 9 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00171) CGTGGAGTTCGGGAACCAGCT 0.652000 8 236 0 0 1 0 0 MYBBP1A 10514 broad.mit.edu 37 17 4453510 4453510 + Missense_Mutation SNP T T G TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr17:4453510T>G ENST00000254718.4 - 9 1468 c.1162A>C c.(1162-1164)Acg>Ccg p.T388P MYBBP1A_ENST00000381556.2_Missense_Mutation_p.T388P Q9BQG0 MBB1A_HUMAN MYB binding protein (P160) 1a 388 Interaction with MYB (By similarity). nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NLS-dependent protein nuclear import complex|nucleolus DNA binding|DNA-directed DNA polymerase activity|transcription factor binding breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1) 24 AAAGTAGGCGTGACAGGGAGG 0.642000 10 271 0 0 1 0 0 ZBTB40 9923 broad.mit.edu 37 1 22838561 22838563 + In_Frame_Del DEL AAG AAG - TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr1:22838561_22838563delAAG ENST00000404138.1 + 12 2906_2908 c.2395_2397delAAG c.(2395-2397)del p.K803del ZBTB40_ENST00000374651.4_In_Frame_Del_p.K691del|ZBTB40_ENST00000375647.4_In_Frame_Del_p.K803del NM_001083621.1 NP_001077090.1 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 803 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) CGATGCCCCCAAGAAGAAGAAGA 0.517 9 171 --- --- --- --- ZMYM4 9202 broad.mit.edu 37 1 35846960 35846960 + Frame_Shift_Del DEL A A - TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr1:35846960delA ENST00000314607.6 + 8 1362 c.1282delA c.(1282-1284)aafs p.K430fs ZMYM4_ENST00000373297.2_Frame_Shift_Del_p.K430fs NM_005095.2 NP_005086.2 Q5VZL5 ZMYM4_HUMAN zinc finger, MYM-type 4 430 multicellular organismal development DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2) 54 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) ATATGAACTGAAAAAAAAACC 0.338 10 233 --- --- --- --- FLG2 388698 broad.mit.edu 37 1 152324558 152324559 + Frame_Shift_Del DEL TG TG - rs140875805 byFrequency TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr1:152324558_152324559delTG ENST00000388718.5 - 3 5775_5776 c.5703_5704delCA c.(5701-5706)cagcfs p.HS1901fs FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1901 calcium ion binding|structural molecule activity p.H1901fs*30(1) NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGGCTTGGCTGTGTGTGTGTC 0.515 7 667 --- --- --- --- KCNN3 3782 broad.mit.edu 37 1 154680586 154680588 + In_Frame_Del DEL GCT GCT - TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr1:154680586_154680588delGCT ENST00000271915.3 - 8 2375_2377 c.2060_2062delAGC c.(2059-2064)ctc>c p.QL687del KCNN3_ENST00000361147.4_In_Frame_Del_p.QL382del|KCNN3_ENST00000358505.2_In_Frame_Del_p.QL374del|KCNN3_ENST00000515643.1_5'UTR NM_002249.5 NP_002240.3 Q9UGI6 KCNN3_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 692 integral to membrane calmodulin binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1) 28 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) GCAGACAGGAGCTGCTGCTGCTG 0.640 8 276 --- --- --- --- PCDHGA8 0 broad.mit.edu 37 5 140772899 140772899 + Frame_Shift_Del DEL C C - rs3214276 TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr5:140772899delC ENST00000398604.2 + 1 519 c.519delC c.(517-519)agfs p.S173fs PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron NM_032088.1 NP_114477.1 endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 51 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACCAGCTCAGCCCCAATCACC 0.572 7 192 --- --- --- --- TMEM60 85025 broad.mit.edu 37 7 77423460 77423460 + Frame_Shift_Del DEL T T - TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr7:77423460delT ENST00000257663.3 - 2 607 c.231delA c.(229-231)aafs p.K77fs NM_032936.3 NP_116325.1 Q9H2L4 TMM60_HUMAN transmembrane protein 60 77 integral to membrane endometrium(1)|large_intestine(1)|lung(2) 4 GGTACCAGGCTTTTTTTTTAA 0.408 7 357 --- --- --- --- ZNF704 619279 broad.mit.edu 37 8 81733713 81733713 + Frame_Shift_Del DEL T T - TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr8:81733713delT ENST00000327835.3 - 2 348 c.117delA c.(115-117)aafs p.K39fs NM_001033723.2 NP_001028895.1 Q6ZNC4 ZN704_HUMAN zinc finger protein 704 39 intracellular zinc ion binding lung(9)|skin(1)|upper_aerodigestive_tract(1) 11 all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06) BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277) TCCGGCTGGCTTTTTTGGTGT 0.428 8 970 --- --- --- --- PKHD1L1 93035 broad.mit.edu 37 8 110455173 110455174 + Splice_Site INS - - G TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr8:110455173_110455174insG ENST00000378402.5 + 36 4497 c.e36-1 NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) ATTTTATGGCAGGTTCATTTTC 0.322 HNSCC(38;0.096) 7 254 --- --- --- --- SPATA31D5P 0 broad.mit.edu 37 9 84528568 84528568 + RNA DEL A A - TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr9:84528568delA ENST00000527857.1 + 0 217 NR_026851.1 AATGATATCCAAAAGGTAAGG 0.398 7 9 --- --- --- --- C9orf43 257169 broad.mit.edu 37 9 116187646 116187648 + In_Frame_Del DEL GCA GCA - TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr9:116187646_116187648delGCA ENST00000288462.4 + 10 1334_1336 c.888_890delGCA c.(886-891)cgg>cg p.RQ296del C9orf43_ENST00000374165.1_In_Frame_Del_p.RQ296del NM_152786.1 NP_689999.1 Q8TAL5 CI043_HUMAN chromosome 9 open reading frame 43 296 Gln-rich. breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3) 15 agcagcagcggcagcagcagcag 0.557 8 154 --- --- --- --- RP11-536C10.7 0 broad.mit.edu 37 14 19408019 19408019 + RNA DEL A A - TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr14:19408019delA ENST00000548050.1 - 0 279 NR_046104.1 CTGTGGAGCCAAAAAAAAAAT 0.393 4 9 --- --- --- --- TMED10 10972 broad.mit.edu 37 14 75601711 75601712 + Splice_Site INS - - A TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr14:75601711_75601712insA ENST00000303575.4 - 5 590 c.e5-2 RP11-950C14.7_ENST00000556236.1_RNA|TMED10_ENST00000557670.1_Splice_Site NM_006827.5 NP_006818.3 P49755 TMEDA_HUMAN transmembrane emp24-like trafficking protein 10 (yeast) protein transport|regulated secretory pathway|vesicle targeting, to, from or within Golgi cis-Golgi network|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|melanosome|microsome|zymogen granule membrane protein binding endometrium(1)|large_intestine(5)|lung(3) 9 BRCA - Breast invasive adenocarcinoma(234;0.0126) TTGTTGACTCTAAAAAAAAACA 0.426 8 182 --- --- --- --- SLTM 79811 broad.mit.edu 37 15 59182564 59182565 + Frame_Shift_Del DEL CT CT - TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr15:59182564_59182565delCT ENST00000380516.2 - 15 2081_2082 c.1994_1995delAG c.(1993-1995)gfs p.E665fs AC025918.2_ENST00000452467.1_RNA|SLTM_ENST00000536328.1_Frame_Shift_Del_p.E234fs NM_001013843.1|NM_024755.2 NP_001013865.1|NP_079031.2 Q9NWH9 SLTM_HUMAN SAFB-like, transcription modulator 665 Arg/Glu-rich. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 TTTCTAGGCGCTCTCTCTCTCT 0.475 8 405 --- --- --- --- RP11-798G7.5 0 broad.mit.edu 37 17 43591984 43591985 + RNA INS - - G TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr17:43591984_43591985insG ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA GTGGGTCATGCGGAGCGAGTTT 0.411 12 69 --- --- --- --- VEZF1 7716 broad.mit.edu 37 17 56056605 56056607 + In_Frame_Del DEL TGC TGC - rs61731354 byFrequency TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr17:56056605_56056607delTGC ENST00000584396.1 - 5 1105_1107 c.1017_1019delGCA c.(1015-1020)caa>ca p.QQ343del VEZF1_ENST00000581208.1_In_Frame_Del_p.QQ352del Q14119 VEZF1_HUMAN vascular endothelial zinc finger 1 352 Poly-Gln. cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1) 10 ttgttgttgttgctgctgctgct 0.463 8 577 --- --- --- --- NCOR1P1 0 broad.mit.edu 37 20 26084428 26084428 + RNA DEL C C - TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr20:26084428delC ENST00000478176.1 - 0 150 NR_003678.1 TCTAATGAAACCTTTAGTAGT 0.313 8 56 --- --- --- --- TPTE 7179 broad.mit.edu 37 21 10944697 10944697 + Frame_Shift_Del DEL A A - TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr21:10944697delA ENST00000298232.7 - 10 850 c.483delT c.(481-483)ttfs p.F161fs TPTE_ENST00000342420.5_Frame_Shift_Del_p.F141fs|TPTE_ENST00000361285.4_Frame_Shift_Del_p.F179fs|TPTE_ENST00000415664.2_5'UTR NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 179 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ACTTAATGTCAAAAAAAATGT 0.299 9 760 --- --- --- --- RRP7B 0 broad.mit.edu 37 22 42971790 42971791 + RNA DEL AG AG - TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chr22:42971790_42971791delAG ENST00000357802.2 - 0 784 CTCTTTCCACAGAGTCTGGTGC 0.663 4 7 --- --- --- --- NUDT11 0 broad.mit.edu 37 X 51239296 51239309 + Translation_Start_Site DEL TCCTCGAGGCAGCC TCCTCGAGGCAGCC - rs78182391 TCGA-ET-A39M-01A-11D-A19J-08 TCGA-ET-A39M-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 39c627f7-225b-4a78-a589-e3228fed1d6e cfdd0348-3531-4c23-bc2f-963173dfd77e g.chrX:51239296_51239309delTCCTCGAGGCAGCC ENST00000375992.3 - 0 139_152 NM_018159.3 NP_060629.2 Q96G61 NUD11_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 11 cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding p.?(5) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2) 9 Ovarian(276;0.236) TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC 0.692 HNSCC(48;0.14) 10 15 --- --- --- ---