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 XPOT 11260 broad.mit.edu 37 12 64827210 64827210 + Missense_Mutation SNP T T G TCGA-KS-A4I3-01A-11D-A257-08 TCGA-KS-A4I3-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a14b60c-27c5-4e97-908f-e727044d75b1 bbddd5b2-b8b0-4d56-97c3-5a2aefb16746 g.chr12:64827210T>G ENST00000332707.5 + 19 2808 c.2279T>G c.(2278-2280)tTt>tGt p.F760C NM_007235.4 NP_009166.2 O43592 XPOT_HUMAN exportin, tRNA 760 Necessary for tRNA-binding, cytoplasmic localization and nuclear export. intracellular protein transport|tRNA export from nucleus cytoplasm|nucleoplasm protein transporter activity|tRNA binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(28;0.0404) GTATCCCCGTTTTTACAACAG 0.368000 63 75 0 0 1 0 0 RPTN 126638 broad.mit.edu 37 1 152128186 152128186 + Silent SNP A A G TCGA-KS-A4I3-01A-11D-A257-08 TCGA-KS-A4I3-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a14b60c-27c5-4e97-908f-e727044d75b1 bbddd5b2-b8b0-4d56-97c3-5a2aefb16746 g.chr1:152128186A>G ENST00000316073.3 - 3 1453 c.1389T>C c.(1387-1389)taT>taC p.Y463Y NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 463 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 CTGTCTGACCATAGTGGGAAC 0.512000 10 962 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149523622 149523622 + RNA SNP G G A TCGA-KS-A4I3-01A-11D-A257-08 TCGA-KS-A4I3-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a14b60c-27c5-4e97-908f-e727044d75b1 bbddd5b2-b8b0-4d56-97c3-5a2aefb16746 g.chr7:149523622G>A ENST00000378016.2 + 0 14536 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) TGCCATCTGTGTGCAGGAGCC 0.682000 6 10 0 0 1 0 0 ZNF766 90321 broad.mit.edu 37 19 52793760 52793760 + Missense_Mutation SNP G G T TCGA-KS-A4I3-01A-11D-A257-08 TCGA-KS-A4I3-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a14b60c-27c5-4e97-908f-e727044d75b1 bbddd5b2-b8b0-4d56-97c3-5a2aefb16746 g.chr19:52793760G>T ENST00000439461.1 + 4 759 c.716G>T c.(715-717)gGa>gTa p.G239V ZNF766_ENST00000593612.1_Missense_Mutation_p.G254V|ZNF766_ENST00000359102.4_Missense_Mutation_p.G254V|ZNF766_ENST00000599581.1_3'UTR|CTD-2525I3.5_ENST00000594865.1_RNA NM_001010851.2 NP_001010851.1 Q5HY98 ZN766_HUMAN zinc finger protein 766 239 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1) 17 GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871) ATTCGTACAGGAGAGAAACCT 0.438000 5 35 0.0215528 0.0221686 1 1 0 DOCK2 1794 broad.mit.edu 37 5 169503024 169503024 + Missense_Mutation SNP G G A TCGA-KS-A4I3-01A-11D-A257-08 TCGA-KS-A4I3-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a14b60c-27c5-4e97-908f-e727044d75b1 bbddd5b2-b8b0-4d56-97c3-5a2aefb16746 g.chr5:169503024G>A ENST00000256935.8 + 47 4882 c.4802G>A c.(4801-4803)cGg>cAg p.R1601Q DOCK2_ENST00000540750.1_Missense_Mutation_p.R662Q|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.R1093Q NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1601 DHR-2. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TTCCATGACCGGATGGAGGAA 0.493000 4 84 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628263 29628263 + Missense_Mutation SNP A A G TCGA-KS-A4I3-01A-11D-A257-08 TCGA-KS-A4I3-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a14b60c-27c5-4e97-908f-e727044d75b1 bbddd5b2-b8b0-4d56-97c3-5a2aefb16746 g.chr20:29628263A>G ENST00000278882.3 + 6 645 c.265A>G c.(265-267)Att>Gtt p.I89V FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V|FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V p.I89V(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TAGCTGCTTTATTAGATGCAA 0.363000 10 156 0 0 1 0 0 GAS6 2621 broad.mit.edu 37 13 114535648 114535648 + Silent SNP G G C TCGA-KS-A4I3-01A-11D-A257-08 TCGA-KS-A4I3-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a14b60c-27c5-4e97-908f-e727044d75b1 bbddd5b2-b8b0-4d56-97c3-5a2aefb16746 g.chr13:114535648G>C ENST00000357389.3 - 9 1193 c.1041C>G c.(1039-1041)acC>acG p.T347T GAS6_ENST00000480426.1_5'UTR|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000450766.1_Silent_p.T31T|GAS6_ENST00000418959.3_Silent_p.T5T|GAS6_ENST00000327773.6_Silent_p.T304T|GAS6_ENST00000355761.4_Silent_p.T250T Q14393 GAS6_HUMAN growth arrest-specific 6 347 Laminin G-like 1. cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen calcium ion binding|receptor agonist activity central_nervous_system(4)|ovary(1) 5 Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188) GGATCACGGGGGTCCCACTGA 0.617000 9 72 0 0 1 0 0 D86994.2 0 broad.mit.edu 37 22 23006961 23006961 + RNA SNP C C T TCGA-KS-A4I3-01A-11D-A257-08 TCGA-KS-A4I3-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a14b60c-27c5-4e97-908f-e727044d75b1 bbddd5b2-b8b0-4d56-97c3-5a2aefb16746 g.chr22:23006961C>T ENST00000385099.1 + 0 64 GGCTCTGCTCCTCCTCACCCT 0.627000 3 4 0 0 1 0 0 D86994.2 0 broad.mit.edu 37 22 23006960 23006960 + RNA SNP C C A TCGA-KS-A4I3-01A-11D-A257-08 TCGA-KS-A4I3-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a14b60c-27c5-4e97-908f-e727044d75b1 bbddd5b2-b8b0-4d56-97c3-5a2aefb16746 g.chr22:23006960C>A ENST00000385099.1 + 0 63 GGGCTCTGCTCCTCCTCACCC 0.627000 3 4 1 1 1 1 0 ANKRD32 84250 broad.mit.edu 37 5 94030832 94030832 + Missense_Mutation SNP G G A TCGA-KS-A4I3-01A-11D-A257-08 TCGA-KS-A4I3-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a14b60c-27c5-4e97-908f-e727044d75b1 bbddd5b2-b8b0-4d56-97c3-5a2aefb16746 g.chr5:94030832G>A ENST00000265140.5 + 21 3411 c.2992G>A c.(2992-2994)Gaa>Aaa p.E998K ANKRD32_ENST00000493934.1_Intron NM_032290.3 NP_115666.2 Q9BQI6 ANR32_HUMAN ankyrin repeat domain 32 998 NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1) 13 all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152) all cancers(79;3.88e-18) AAGTCATAAAGAAACCACCAG 0.343000 6 32 0 0 1 0 0 UBBP4 0 broad.mit.edu 37 17 21730916 21730916 + Missense_Mutation SNP G G T rs111245273 by1000genomes TCGA-KS-A4I3-01A-11D-A257-08 TCGA-KS-A4I3-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a14b60c-27c5-4e97-908f-e727044d75b1 bbddd5b2-b8b0-4d56-97c3-5a2aefb16746 g.chr17:21730916G>T ENST00000584755.1 + 2 615 c.218G>T c.(217-219)cGg>cTg p.R73L UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L p.R73L(24) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GTCCTGCGTCGGAGAGGTGGT 0.552000 4 47 0.00909568 0.00963072 1 1 0 NBPF10 100132406 broad.mit.edu 37 1 145367767 145367767 + Missense_Mutation SNP G G A rs77484671 TCGA-KS-A4I3-01A-11D-A257-08 TCGA-KS-A4I3-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a14b60c-27c5-4e97-908f-e727044d75b1 bbddd5b2-b8b0-4d56-97c3-5a2aefb16746 g.chr1:145367767G>A ENST00000342960.5 + 83 10398 c.10363G>A c.(10363-10365)Gaa>Aaa p.E3455K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3455 p.E3455K(5) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) atcaaagaaggaaagaagaag 0.423000 4 49 0 0 1 0 0 FREM1 158326 broad.mit.edu 37 9 14859445 14859445 + Silent SNP G G A TCGA-KS-A4I3-01A-11D-A257-08 TCGA-KS-A4I3-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a14b60c-27c5-4e97-908f-e727044d75b1 bbddd5b2-b8b0-4d56-97c3-5a2aefb16746 g.chr9:14859445G>A ENST00000380881.4 - 5 1182 c.367C>T c.(367-369)Ctg>Ttg p.L123L FREM1_ENST00000422223.2_Silent_p.L123L|FREM1_ENST00000380880.3_Silent_p.L123L Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 123 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) TAGACCCACAGGATAAAAGTT 0.408000 46 79 0 0 1 0 0 NT5C3A 51251 broad.mit.edu 37 7 33055412 33055412 + Missense_Mutation SNP G G A TCGA-KS-A4I3-01A-11D-A257-08 TCGA-KS-A4I3-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a14b60c-27c5-4e97-908f-e727044d75b1 bbddd5b2-b8b0-4d56-97c3-5a2aefb16746 g.chr7:33055412G>A ENST00000396152.2 - 9 964 c.662C>T c.(661-663)aCa>aTa p.T221I AVL9_ENST00000404479.1_Intron|NT5C3A_ENST00000381626.2_Missense_Mutation_p.T209I|NT5C3A_ENST00000409467.1_Missense_Mutation_p.T209I|NT5C3A_ENST00000405342.1_Missense_Mutation_p.T221I|NT5C3A_ENST00000242210.7_Missense_Mutation_p.T260I NM_016489.12 NP_057573.2 5'-nucleotidase, cytosolic IIIA GAAATATTCTGTATTCCTCAA 0.368000 3 27 0 0 1 0 0 ST18 9705 broad.mit.edu 37 8 53028862 53028862 + Missense_Mutation SNP G G T TCGA-KS-A4I3-01A-11D-A257-08 TCGA-KS-A4I3-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a14b60c-27c5-4e97-908f-e727044d75b1 bbddd5b2-b8b0-4d56-97c3-5a2aefb16746 g.chr8:53028862G>T ENST00000276480.7 - 25 3659 c.2976C>A c.(2974-2976)agC>agA p.S992R NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 992 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) TGTCAGCAAGGCTTGAAATGA 0.463000 11 57 3.86212e-05 4.21322e-05 1 1 0 IGSF9B 22997 broad.mit.edu 37 11 133790063 133790063 + Missense_Mutation SNP C C T TCGA-KS-A4I3-01A-11D-A257-08 TCGA-KS-A4I3-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a14b60c-27c5-4e97-908f-e727044d75b1 bbddd5b2-b8b0-4d56-97c3-5a2aefb16746 g.chr11:133790063C>T ENST00000321016.8 - 18 3787 c.3557G>A c.(3556-3558)cGc>cAc p.R1186H IGSF9B_ENST00000533871.2_Missense_Mutation_p.R1186H Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 1186 Pro-rich. integral to membrane|plasma membrane breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) GGGCTCGGCGCGCCTGGCCTG 0.721000 29 52 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103230092 103230092 + Missense_Mutation SNP C C T TCGA-KS-A4I3-01A-11D-A257-08 TCGA-KS-A4I3-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a14b60c-27c5-4e97-908f-e727044d75b1 bbddd5b2-b8b0-4d56-97c3-5a2aefb16746 g.chr7:103230092C>T ENST00000424685.2 - 28 4255 c.4096G>A c.(4096-4098)Gaa>Aaa p.E1366K RELN_ENST00000428762.1_Missense_Mutation_p.E1366K|RELN_ENST00000343529.5_Missense_Mutation_p.E1366K P78509 RELN_HUMAN reelin 1366 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) GTCCATTCTTCAAAGTCCCCT 0.458000 51 91 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-KS-A4I3-01A-11D-A257-08 TCGA-KS-A4I3-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a14b60c-27c5-4e97-908f-e727044d75b1 bbddd5b2-b8b0-4d56-97c3-5a2aefb16746 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 22 41 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-KS-A4I3-01A-11D-A257-08 TCGA-KS-A4I3-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a14b60c-27c5-4e97-908f-e727044d75b1 bbddd5b2-b8b0-4d56-97c3-5a2aefb16746 g.chr1:145367739A>G ENST00000342960.5 + 83 10370 c.10335A>G c.(10333-10335)aaA>aaG p.K3445K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3445 p.K3445K(4) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ggaaggggaaaaaaagaaggg 0.413000 4 66 0 0 1 0 0 ZMYND11 10771 broad.mit.edu 37 10 292819 292819 + Missense_Mutation SNP G G A TCGA-KS-A4I3-01A-11D-A257-08 TCGA-KS-A4I3-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a14b60c-27c5-4e97-908f-e727044d75b1 bbddd5b2-b8b0-4d56-97c3-5a2aefb16746 g.chr10:292819G>A ENST00000397962.3 + 11 1492 c.1064G>A c.(1063-1065)cGt>cAt p.R355H ZMYND11_ENST00000381591.1_Missense_Mutation_p.R355H|ZMYND11_ENST00000381584.1_Missense_Mutation_p.R338H|ZMYND11_ENST00000381604.4_Missense_Mutation_p.R315H|ZMYND11_ENST00000402736.1_Missense_Mutation_p.R324H|ZMYND11_ENST00000509513.2_Missense_Mutation_p.R354H|ZMYND11_ENST00000535374.1_Missense_Mutation_p.R150H|ZMYND11_ENST00000558098.2_Missense_Mutation_p.R355H|ZMYND11_ENST00000381607.4_Missense_Mutation_p.R261H|ZMYND11_ENST00000403354.1_Missense_Mutation_p.R275H|ZMYND11_ENST00000473115.1_3'UTR|ZMYND11_ENST00000545619.1_Missense_Mutation_p.R235H|ZMYND11_ENST00000381602.4_Missense_Mutation_p.R315H|ZMYND11_ENST00000602682.1_Missense_Mutation_p.R270H|ZMYND11_ENST00000397959.3_Missense_Mutation_p.R270H|ZMYND11_ENST00000309776.4_Missense_Mutation_p.R315H Q15326 ZMY11_HUMAN zinc finger, MYND-type containing 11 315 cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2) 24 all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14) OV - Ovarian serous cystadenocarcinoma(33;0.132) Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106) CTGCATCAGCGTTTCCTACGA 0.478000 5 13 0 0 1 0 0 ANKRD36BP2 0 broad.mit.edu 37 2 89083945 89083946 + RNA INS - - GC TCGA-KS-A4I3-01A-11D-A257-08 TCGA-KS-A4I3-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a14b60c-27c5-4e97-908f-e727044d75b1 bbddd5b2-b8b0-4d56-97c3-5a2aefb16746 g.chr2:89083945_89083946insGC ENST00000393525.3 + 0 576 GTATTCCTTTTTTTTCAGTGTA 0.347 3 3 --- --- --- --- RP11-167H9.4 0 broad.mit.edu 37 3 149769296 149769296 + RNA DEL C C - rs59377959 TCGA-KS-A4I3-01A-11D-A257-08 TCGA-KS-A4I3-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a14b60c-27c5-4e97-908f-e727044d75b1 bbddd5b2-b8b0-4d56-97c3-5a2aefb16746 g.chr3:149769296delC ENST00000487840.1 + 0 46 TTCCTGGTGTCtttttttttt 0.463 9 45 --- --- --- --- TRBV6-8 0 broad.mit.edu 37 7 142124496 142124497 + RNA INS - - G rs72463875 TCGA-KS-A4I3-01A-11D-A257-08 TCGA-KS-A4I3-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a14b60c-27c5-4e97-908f-e727044d75b1 bbddd5b2-b8b0-4d56-97c3-5a2aefb16746 g.chr7:142124496_142124497insG ENST00000390376.2 - 0 49 AATCCACGCAAGGGCCCTGCCC 0.614 7 78 --- --- --- --- KRTAP5-10 387273 broad.mit.edu 37 11 71276909 71276910 + In_Frame_Ins INS - - GGCTGTGGCTCCTGTGGGGGCTCCAAGGGA rs36179995 TCGA-KS-A4I3-01A-11D-A257-08 TCGA-KS-A4I3-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a14b60c-27c5-4e97-908f-e727044d75b1 bbddd5b2-b8b0-4d56-97c3-5a2aefb16746 g.chr11:71276909_71276910insGGCTGTGGCTCCTGTGGGGGCTCCAAGGGA ENST00000398531.1 + 1 301_302 c.276_277insGGCTGTGGCTCCTGTGGGGGCTCCAAGGGA c.(274-279)gggctg>ggGGCTGTGGCTCCTGTGGGGGCTCCAAGGGAgctg p.92_93GL>GAVAPVGAPREL KRTAP5-10_ENST00000376536.4_Intron NM_001012710.1 NP_001012728.1 Q6L8G5 KR510_HUMAN keratin associated protein 5-10 92 7 X 4 AA repeats of C-C-X-P. keratin filament endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 12 GCTCCAAGGGGGGCTGTGGCTC 0.678 13 233 --- --- --- --- HERC2P2 0 broad.mit.edu 37 15 23331163 23331163 + RNA DEL A A - TCGA-KS-A4I3-01A-11D-A257-08 TCGA-KS-A4I3-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a14b60c-27c5-4e97-908f-e727044d75b1 bbddd5b2-b8b0-4d56-97c3-5a2aefb16746 g.chr15:23331163delA ENST00000560464.1 - 0 908 AATAAATACTAAAAAAAAAAA 0.368 3 4 --- --- --- --- CHD2 1106 broad.mit.edu 37 15 93540316 93540316 + Frame_Shift_Del DEL A A - TCGA-KS-A4I3-01A-11D-A257-08 TCGA-KS-A4I3-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a14b60c-27c5-4e97-908f-e727044d75b1 bbddd5b2-b8b0-4d56-97c3-5a2aefb16746 g.chr15:93540316delA ENST00000394196.4 + 29 4793 c.3725delA c.(3724-3726)gafs p.E1242fs CHD2_ENST00000557381.1_Frame_Shift_Del_p.E1242fs NM_001271.3 NP_001262.3 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 1242 regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 47 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) GACCCTGAAGAAAAAAAAAAG 0.348 7 64 --- --- --- --- KRTAP4-1 85285 broad.mit.edu 37 17 39340796 39340852 + In_Frame_Del DEL CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG - rs483929 by1000genomes TCGA-KS-A4I3-01A-11D-A257-08 TCGA-KS-A4I3-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a14b60c-27c5-4e97-908f-e727044d75b1 bbddd5b2-b8b0-4d56-97c3-5a2aefb16746 g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG ENST00000398472.1 - 1 742_798 c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG c.(253-312)cgt>cg p.RPLCCQTTCHPSCGMSSCCR85del Q9BYQ7 KRA41_HUMAN keratin associated protein 4-1 85 18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL]. Missing (in allele KAP4.10). keratin filament p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2) kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 5 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) ACAGAGTGGACGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGGCGGCAGCAGC 0.646 97 30 --- --- --- --- IGLV5-48 0 broad.mit.edu 37 22 22707452 22707453 + RNA INS - - T rs113847228 by1000genomes TCGA-KS-A4I3-01A-11D-A257-08 TCGA-KS-A4I3-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9a14b60c-27c5-4e97-908f-e727044d75b1 bbddd5b2-b8b0-4d56-97c3-5a2aefb16746 g.chr22:22707452_22707453insT ENST00000390293.1 + 0 46 ATATGCCTGTGTTCCAGGTTCC 0.500 13 102 --- --- --- ---