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 ZNF234 10780 broad.mit.edu 37 19 44652938 44652938 + Silent SNP C C T TCGA-DE-A7U5-01A-11D-A397-08 TCGA-DE-A7U5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f52559-79fe-45ee-aeaf-7508d38ff630 d2e7a9e2-4841-4fd9-898f-9115151c6f48 g.chr19:44652938C>T ENST00000426739.2 + 4 288 c.30C>T c.(28-30)ttC>ttT p.F10F ZNF234_ENST00000590748.1_3'UTR|ZNF234_ENST00000592437.1_Silent_p.F10F NM_006630.2 NP_006621.1 Q14588 ZN234_HUMAN zinc finger protein 234 10 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1) 23 Prostate(69;0.0435) GACTGACCTTCAAGGATGTGG 0.483000 5 164 0 0 1 0 0 MT-CYB 4519 broad.mit.edu 37 MT 14888 14888 + Missense_Mutation SNP G G A TCGA-DE-A7U5-01A-11D-A397-08 TCGA-DE-A7U5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f52559-79fe-45ee-aeaf-7508d38ff630 d2e7a9e2-4841-4fd9-898f-9115151c6f48 g.chrM:14888G>A ENST00000361789.2 + 1 142 c.142G>A c.(142-144)Gga>Aga p.48_48insR mitochondrially encoded cytochrome b breast(6)|endometrium(25)|kidney(33)|prostate(1) 65 AAATCACCACAGGACTATTCC 0.512000 79 312 0 0 1 0 0 PRSS3P2 0 broad.mit.edu 37 7 142481789 142481789 + RNA SNP T T C rs140267598 by1000genomes TCGA-DE-A7U5-01A-11D-A397-08 TCGA-DE-A7U5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f52559-79fe-45ee-aeaf-7508d38ff630 d2e7a9e2-4841-4fd9-898f-9115151c6f48 g.chr7:142481789T>C ENST00000603901.1 + 0 468 NR_001296.3 ACTACCCAGATGAGCTGCAGT 0.488000 4 60 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664186 22664186 + RNA SNP A A G TCGA-DE-A7U5-01A-11D-A397-08 TCGA-DE-A7U5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f52559-79fe-45ee-aeaf-7508d38ff630 d2e7a9e2-4841-4fd9-898f-9115151c6f48 g.chr22:22664186A>G ENST00000426066.1 + 0 709 NR_027293.1 CAGATCAAGAAAGCACTCTGA 0.498000 4 88 0 0 1 0 0 SPATA31C1 0 broad.mit.edu 37 9 90535640 90535640 + RNA SNP C C T TCGA-DE-A7U5-01A-11D-A397-08 TCGA-DE-A7U5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f52559-79fe-45ee-aeaf-7508d38ff630 d2e7a9e2-4841-4fd9-898f-9115151c6f48 g.chr9:90535640C>T ENST00000602681.1 + 0 1544 GAGGATTTGGCGGCTTCTGTC 0.562000 5 195 0 0 1 0 0 THOC5 8563 broad.mit.edu 37 22 29904501 29904501 + Missense_Mutation SNP C C G rs139614127 byFrequency TCGA-DE-A7U5-01A-11D-A397-08 TCGA-DE-A7U5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f52559-79fe-45ee-aeaf-7508d38ff630 d2e7a9e2-4841-4fd9-898f-9115151c6f48 g.chr22:29904501C>G ENST00000490103.1 - 20 2119 c.1997G>C c.(1996-1998)aGc>aCc p.S666T THOC5_ENST00000397873.2_Missense_Mutation_p.S666T|THOC5_ENST00000397871.1_Missense_Mutation_p.S666T|THOC5_ENST00000397872.1_Missense_Mutation_p.S666T NM_003678.4 NP_003669.4 Q13769 THOC5_HUMAN THO complex 5 666 intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex protein binding|RNA binding NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 CTTCATCCTGCTAGGACCCCT 0.463000 7 43 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-DE-A7U5-01A-11D-A397-08 TCGA-DE-A7U5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f52559-79fe-45ee-aeaf-7508d38ff630 d2e7a9e2-4841-4fd9-898f-9115151c6f48 g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000348295.3_Silent_p.S343S NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 4 71 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105409977 105409977 + Silent SNP G G A TCGA-DE-A7U5-01A-11D-A397-08 TCGA-DE-A7U5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f52559-79fe-45ee-aeaf-7508d38ff630 d2e7a9e2-4841-4fd9-898f-9115151c6f48 g.chr14:105409977G>A ENST00000333244.5 - 7 11930 c.11811C>T c.(11809-11811)gaC>gaT p.D3937D AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3937 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GGGCCTCGACGTCCACCTCCA 0.597000 7 429 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-DE-A7U5-01A-11D-A397-08 TCGA-DE-A7U5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f52559-79fe-45ee-aeaf-7508d38ff630 d2e7a9e2-4841-4fd9-898f-9115151c6f48 g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) 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) tgctgctgctactgctgctgc 0.532000 T MLL ALL 6 73 0 0 1 0 0 DNM1P47 0 broad.mit.edu 37 15 102304884 102304884 + RNA SNP G G A rs143982735 by1000genomes TCGA-DE-A7U5-01A-11D-A397-08 TCGA-DE-A7U5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f52559-79fe-45ee-aeaf-7508d38ff630 d2e7a9e2-4841-4fd9-898f-9115151c6f48 g.chr15:102304884G>A ENST00000561463.1 + 0 12930 GCGTGGGAACGAGAAGACACT 0.562000 3 20 0 0 1 0 0 FAM169B 283777 broad.mit.edu 37 15 98995117 98995117 + Missense_Mutation SNP T T C TCGA-DE-A7U5-01A-11D-A397-08 TCGA-DE-A7U5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f52559-79fe-45ee-aeaf-7508d38ff630 d2e7a9e2-4841-4fd9-898f-9115151c6f48 g.chr15:98995117T>C ENST00000558256.1 - 5 556 c.307A>G c.(307-309)Aca>Gca p.T103A FAM169B_ENST00000332908.4_Missense_Mutation_p.T103A NM_182562.2 NP_872368.2 Q8N8A8 F169B_HUMAN family with sequence similarity 169, member B 103 large_intestine(3)|lung(3)|urinary_tract(1) 7 TCTGGGAATGTCTCACAGAAG 0.572000 14 21 0 0 1 0 0 WDR91 29062 broad.mit.edu 37 7 134894338 134894338 + Missense_Mutation SNP T T C TCGA-DE-A7U5-01A-11D-A397-08 TCGA-DE-A7U5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f52559-79fe-45ee-aeaf-7508d38ff630 d2e7a9e2-4841-4fd9-898f-9115151c6f48 g.chr7:134894338T>C ENST00000354475.4 - 2 324 c.293A>G c.(292-294)tAc>tGc p.Y98C WDR91_ENST00000344400.5_Missense_Mutation_p.Y98C|WDR91_ENST00000423565.1_Missense_Mutation_p.Y63C NM_014149.3 NP_054868.3 A4D1P6 WDR91_HUMAN WD repeat domain 91 98 breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 40 CTGGATTGTGTAGACAAGATA 0.478000 4 102 0 0 1 0 0 INSRR 3645 broad.mit.edu 37 1 156811226 156811226 + Missense_Mutation SNP C C G TCGA-DE-A7U5-01A-11D-A397-08 TCGA-DE-A7U5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f52559-79fe-45ee-aeaf-7508d38ff630 d2e7a9e2-4841-4fd9-898f-9115151c6f48 g.chr1:156811226C>G ENST00000368195.3 - 21 4018 c.3622G>C c.(3622-3624)Ggc>Cgc p.G1208R NTRK1_ENST00000392302.2_Intron NM_014215.2 NP_055030.1 P14616 INSRR_HUMAN insulin receptor-related receptor 1208 Protein kinase. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 42 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) AGGACCCCGCCATCCATGACG 0.607000 5 86 0 0 1 0 0 DNM1P47 0 broad.mit.edu 37 15 102304883 102304883 + RNA SNP C C G TCGA-DE-A7U5-01A-11D-A397-08 TCGA-DE-A7U5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f52559-79fe-45ee-aeaf-7508d38ff630 d2e7a9e2-4841-4fd9-898f-9115151c6f48 g.chr15:102304883C>G ENST00000561463.1 + 0 12929 CGCGTGGGAACGAGAAGACAC 0.562000 3 23 0 0 1 0 0 RP11-417J8.6 0 broad.mit.edu 37 1 142713956 142713956 + RNA SNP G G A rs12161184 by1000genomes TCGA-DE-A7U5-01A-11D-A397-08 TCGA-DE-A7U5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f52559-79fe-45ee-aeaf-7508d38ff630 d2e7a9e2-4841-4fd9-898f-9115151c6f48 g.chr1:142713956G>A ENST00000369381.2 - 0 649 AAGTTAAAGAGTAACCTGCAC 0.308000 5 34 0 0 1 0 0 HLA-A 3105 broad.mit.edu 37 6 29910693 29910693 + Missense_Mutation SNP A A G rs41559716 by1000genomes TCGA-DE-A7U5-01A-11D-A397-08 TCGA-DE-A7U5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f52559-79fe-45ee-aeaf-7508d38ff630 d2e7a9e2-4841-4fd9-898f-9115151c6f48 g.chr6:29910693A>G ENST00000396634.1 + 4 574 c.233A>G c.(232-234)cAg>cGg p.Q78R HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R P30443 1A01_HUMAN major histocompatibility complex, class I, A 78 Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity p.Q78R(2) central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 TGGATAGAGCAGGAGGGGCCG 0.657000 Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) 3 29 0 0 1 0 0 CELSR1 9620 broad.mit.edu 37 22 46768939 46768939 + Missense_Mutation SNP C C A TCGA-DE-A7U5-01A-11D-A397-08 TCGA-DE-A7U5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f52559-79fe-45ee-aeaf-7508d38ff630 d2e7a9e2-4841-4fd9-898f-9115151c6f48 g.chr22:46768939C>A ENST00000262738.3 - 25 7599 c.7600G>T c.(7600-7602)Gtt>Ttt p.V2534F NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 2534 central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) AGGATGGCAACCACTGTGCAC 0.617000 4 22 0.00909568 0.00909568 1 1 0 IGHG4 0 broad.mit.edu 37 14 106091315 106091315 + RNA SNP C C T TCGA-DE-A7U5-01A-11D-A397-08 TCGA-DE-A7U5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f52559-79fe-45ee-aeaf-7508d38ff630 d2e7a9e2-4841-4fd9-898f-9115151c6f48 g.chr14:106091315C>T ENST00000390543.2 - 0 578 TGCCGTTCAGCCAGTCCTGGT 0.587000 7 564 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-DE-A7U5-01A-11D-A397-08 TCGA-DE-A7U5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f52559-79fe-45ee-aeaf-7508d38ff630 d2e7a9e2-4841-4fd9-898f-9115151c6f48 g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 4 75 0 0 1 0 0 SMARCC2 6601 broad.mit.edu 37 12 56563450 56563450 + Missense_Mutation SNP C C T TCGA-DE-A7U5-01A-11D-A397-08 TCGA-DE-A7U5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f52559-79fe-45ee-aeaf-7508d38ff630 d2e7a9e2-4841-4fd9-898f-9115151c6f48 g.chr12:56563450C>T ENST00000394023.3 - 25 2683 c.2578G>A c.(2578-2580)Gaa>Aaa p.E860K SMARCC2_ENST00000267064.4_Missense_Mutation_p.E829K|SMARCC2_ENST00000347471.4_Missense_Mutation_p.E860K|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550164.1_Missense_Mutation_p.E860K NM_001130420.1 NP_001123892.1 Q8TAQ2 SMRC2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 829 chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex DNA binding|protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(18;0.123) tcctgcccttcctttggctcc 0.597000 15 21 0 0 1 0 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296674 39296674 + Silent SNP G G A TCGA-DE-A7U5-01A-11D-A397-08 TCGA-DE-A7U5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f52559-79fe-45ee-aeaf-7508d38ff630 d2e7a9e2-4841-4fd9-898f-9115151c6f48 g.chr17:39296674G>A ENST00000345847.4 - 1 65 c.66C>T c.(64-66)cgC>cgT p.R22R NM_030976.1 NP_112238.1 Q9BYQ5 KRA46_HUMAN keratin associated protein 4-6 22 29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP]. keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 AGCAGCTGGGGCGGCAGCAGG 0.632000 5 89 0 0 1 0 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39262047 39262047 + Missense_Mutation SNP A A G TCGA-DE-A7U5-01A-11D-A397-08 TCGA-DE-A7U5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f52559-79fe-45ee-aeaf-7508d38ff630 d2e7a9e2-4841-4fd9-898f-9115151c6f48 g.chr17:39262047A>G ENST00000391415.1 + 1 464 c.407A>G c.(406-408)aAg>aGg p.K136R NM_001146041.1 NP_001139513.1 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 136 29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP]. keratin filament central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3) 14 agctgctgcaagccccagtgc 0.652000 3 17 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DE-A7U5-01A-11D-A397-08 TCGA-DE-A7U5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f52559-79fe-45ee-aeaf-7508d38ff630 d2e7a9e2-4841-4fd9-898f-9115151c6f48 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 17 41 0 0 1 0 0 CEP89 84902 broad.mit.edu 37 19 33390789 33390789 + Nonsense_Mutation SNP G G A TCGA-DE-A7U5-01A-11D-A397-08 TCGA-DE-A7U5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f52559-79fe-45ee-aeaf-7508d38ff630 d2e7a9e2-4841-4fd9-898f-9115151c6f48 g.chr19:33390789G>A ENST00000305768.4 - 16 1937 c.1849C>T c.(1849-1851)Cag>Tag p.Q617* NM_032816.3 NP_116205.3 Q96ST8 CEP89_HUMAN centrosomal protein 89kDa 617 centrosome|spindle pole breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 35 TCACGTTCCTGGGTTATGTTT 0.398000 18 99 0 0 1 0 0 ANKRD36 375248 broad.mit.edu 37 2 97808574 97808575 + Splice_Site INS - - A TCGA-DE-A7U5-01A-11D-A397-08 TCGA-DE-A7U5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f52559-79fe-45ee-aeaf-7508d38ff630 d2e7a9e2-4841-4fd9-898f-9115151c6f48 g.chr2:97808574_97808575insA ENST00000420699.2 + 8 1145 c.e8+2 ANKRD36_ENST00000461153.2_Splice_Site NM_001164315.1 NP_001157787.1 A6QL64 AN36A_HUMAN ankyrin repeat domain 36 p.?(1) endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23 CTGGGACAGGTATTTTGGAATA 0.366 11 13 --- --- --- --- FBLN2 2199 broad.mit.edu 37 3 13611894 13611895 + In_Frame_Ins INS - - CTGGGC TCGA-DE-A7U5-01A-11D-A397-08 TCGA-DE-A7U5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f52559-79fe-45ee-aeaf-7508d38ff630 d2e7a9e2-4841-4fd9-898f-9115151c6f48 g.chr3:13611894_13611895insCTGGGC ENST00000404922.3 + 2 158_159 c.39_40insCTGGGC c.(37-42)gctggg>gcCTGGGCtggg p.12_13insAW FBLN2_ENST00000492059.1_In_Frame_Ins_p.12_13insAW|FBLN2_ENST00000535798.1_In_Frame_Ins_p.38_39insAW|FBLN2_ENST00000295760.7_In_Frame_Ins_p.12_13insAW NM_001004019.1 NP_001004019.1 P98095 FBLN2_HUMAN fibulin 2 12 proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (1;0.00416) CCTGGCTTGCTCTGGGCCTGGC 0.688 9 11 --- --- --- --- RP11-608O21.1 0 broad.mit.edu 37 4 19815895 19815895 + RNA DEL A A - rs145239076 TCGA-DE-A7U5-01A-11D-A397-08 TCGA-DE-A7U5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f52559-79fe-45ee-aeaf-7508d38ff630 d2e7a9e2-4841-4fd9-898f-9115151c6f48 g.chr4:19815895delA ENST00000511431.1 + 0 288 TCTGGGCTGTaaaaaaaaaaa 0.413 5 10 --- --- --- --- TRGV2 0 broad.mit.edu 37 7 38403092 38403095 + RNA DEL TCTG TCTG - TCGA-DE-A7U5-01A-11D-A397-08 TCGA-DE-A7U5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f52559-79fe-45ee-aeaf-7508d38ff630 d2e7a9e2-4841-4fd9-898f-9115151c6f48 g.chr7:38403092_38403095delTCTG ENST00000426402.2 - 0 24_27 TGACTGAGGATCTGTCTAAGAGGA 0.569 5 2 --- --- --- --- MAFA 389692 broad.mit.edu 37 8 144511954 144511956 + In_Frame_Del DEL TGG TGG - TCGA-DE-A7U5-01A-11D-A397-08 TCGA-DE-A7U5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f52559-79fe-45ee-aeaf-7508d38ff630 d2e7a9e2-4841-4fd9-898f-9115151c6f48 g.chr8:144511954_144511956delTGG ENST00000333480.2 - 1 620_622 c.621_623delCCA c.(619-624)cat>ca p.HH207del MAFA_ENST00000528185.1_5'UTR NM_201589.3 NP_963883.2 Q8NHW3 MAFA_HUMAN v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A 207 His-rich. insulin secretion|nitric oxide mediated signal transduction|response to glucose stimulus nucleus protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.H208delH(3) breast(1)|lung(1)|upper_aerodigestive_tract(2) 4 all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237) CGCGCCGCCAtggtggtggtggt 0.744 HNSCC(29;0.082) 4 9 --- --- --- --- RP11-464F9.1 0 broad.mit.edu 37 10 75486922 75486923 + RNA INS - - A rs11387949 TCGA-DE-A7U5-01A-11D-A397-08 TCGA-DE-A7U5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f52559-79fe-45ee-aeaf-7508d38ff630 d2e7a9e2-4841-4fd9-898f-9115151c6f48 g.chr10:75486922_75486923insA ENST00000399449.3 - 0 427 RP11-574K11.28_ENST00000580790.1_RNA|BMS1P4_ENST00000584747.1_RNA GCTAACTTAGTAAAGTATAAGA 0.386 4 4 --- --- --- --- TPCN1 53373 broad.mit.edu 37 12 113704096 113704098 + In_Frame_Del DEL CTG CTG - TCGA-DE-A7U5-01A-11D-A397-08 TCGA-DE-A7U5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f52559-79fe-45ee-aeaf-7508d38ff630 d2e7a9e2-4841-4fd9-898f-9115151c6f48 g.chr12:113704096_113704098delCTG ENST00000550785.1 + 5 734_736 c.565_567delCTG c.(565-567)del p.L194del TPCN1_ENST00000541517.1_In_Frame_Del_p.L194del|TPCN1_ENST00000392569.4_In_Frame_Del_p.L54del|TPCN1_ENST00000335509.6_In_Frame_Del_p.L122del NM_001143819.1 NP_001137291.1 Q9ULQ1 TPC1_HUMAN two pore segment channel 1 122 endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1) 40 GGCCACGGCCCTGCTGCTGCTGC 0.640 7 364 --- --- --- --- HERC2P2 0 broad.mit.edu 37 15 23299147 23299147 + RNA DEL A A - TCGA-DE-A7U5-01A-11D-A397-08 TCGA-DE-A7U5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f52559-79fe-45ee-aeaf-7508d38ff630 d2e7a9e2-4841-4fd9-898f-9115151c6f48 g.chr15:23299147delA ENST00000560464.1 - 0 4510 ACATTCAAAGAAAAAAAAAAA 0.313 4 5 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11062343 11062344 + RNA INS - - AG rs148978863 TCGA-DE-A7U5-01A-11D-A397-08 TCGA-DE-A7U5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f52559-79fe-45ee-aeaf-7508d38ff630 d2e7a9e2-4841-4fd9-898f-9115151c6f48 g.chr21:11062343_11062344insAG ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 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) TAGTAAAAGACAGCAACTTTCA 0.267 3 6 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11064722 11064722 + RNA DEL A A - TCGA-DE-A7U5-01A-11D-A397-08 TCGA-DE-A7U5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f52559-79fe-45ee-aeaf-7508d38ff630 d2e7a9e2-4841-4fd9-898f-9115151c6f48 g.chr21:11064722delA ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 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) gccaataggcagtaagaaaat 0.488 6 13 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11069789 11069790 + RNA INS - - T rs141116307 TCGA-DE-A7U5-01A-11D-A397-08 TCGA-DE-A7U5-10A-01D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61f52559-79fe-45ee-aeaf-7508d38ff630 d2e7a9e2-4841-4fd9-898f-9115151c6f48 g.chr21:11069789_11069790insT ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 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) aggagctggagtgggaggtagg 0.376 3 6 --- --- --- ---