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 CCBP2 1238 broad.mit.edu 37 3 42906480 42906480 + Silent SNP G G T TCGA-DJ-A4V2-01A-11D-A257-08 TCGA-DJ-A4V2-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c5ac429-f523-4c6c-b4d6-0de91d50a945 47627937-0a98-41cf-ac54-096a2900b4ae g.chr3:42906480G>T uc003cme.3 + 2 664 c.486G>T c.(484-486)ctG>ctT p.L162L CCBP2_uc003cmf.3_Silent_p.L162L|CCBP2_uc003cmg.3_Intron|CCBP2_uc021wwm.1_Silent_p.L162L NM_001296 NP_001287 O00590 CCBP2_HUMAN Homo sapiens chemokine binding protein 2 (CCBP2), mRNA. 162 chemotaxis|immune response|multicellular organismal development integral to plasma membrane C-X-C chemokine receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(10)|skin(2)|urinary_tract(1) 26 KIRC - Kidney renal clear cell carcinoma(284;0.241) CCAAGAGCCTGCTCCTTGCTA 0.537000 30 73 0 0 1 0 0 CLTCL1 8218 broad.mit.edu 37 22 19222058 19222058 + Missense_Mutation SNP C C T TCGA-DJ-A4V2-01A-11D-A257-08 TCGA-DJ-A4V2-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c5ac429-f523-4c6c-b4d6-0de91d50a945 47627937-0a98-41cf-ac54-096a2900b4ae g.chr22:19222058C>T uc021wle.1 - 6 1216 c.1141G>A c.(1141-1143)Gcc>Acc p.A381T CLTCL1_uc021wld.1_Missense_Mutation_p.A381T|CLTCL1_uc021wlc.1_Missense_Mutation_p.A381T|CLTCL1_uc021wlf.1_Missense_Mutation_p.A381T|CLTCL1_uc011agw.1_Missense_Mutation_p.A381T NM_007098 NP_009029 P53675 CLH2_HUMAN Homo sapiens clathrin, heavy chain-like 1 (CLTCL1), transcript variant 1, mRNA. 381 Globular terminal domain. anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network protein binding|signal transducer activity|structural molecule activity breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Colorectal(54;0.0993) GCAACTTTGGCGGCTTCAGCA 0.453000 T ? ALCL 3 31 0 0 1 0 0 GPR179 440435 broad.mit.edu 37 17 36486995 36486995 + Silent SNP G G A TCGA-DJ-A4V2-01A-11D-A257-08 TCGA-DJ-A4V2-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c5ac429-f523-4c6c-b4d6-0de91d50a945 47627937-0a98-41cf-ac54-096a2900b4ae g.chr17:36486995G>A uc002hpz.3 - 10 2478 c.2457C>T c.(2455-2457)agC>agT p.S819S NM_001004334 NP_001004334 Q6PRD1 GP179_HUMAN Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA. 819 integral to membrane|plasma membrane G-protein coupled receptor activity breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) GGTTGTGGGCGCTGGCTGACC 0.652000 5 5 0 0 1 0 0 TDO2 6999 broad.mit.edu 37 4 156825198 156825198 + Missense_Mutation SNP G G T TCGA-DJ-A4V2-01A-11D-A257-08 TCGA-DJ-A4V2-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c5ac429-f523-4c6c-b4d6-0de91d50a945 47627937-0a98-41cf-ac54-096a2900b4ae g.chr4:156825198G>T uc003ipf.1 + 1 128 c.64G>T c.(64-66)Ggc>Tgc p.G22C NM_005651 NP_005642 P48775 T23O_HUMAN Homo sapiens tryptophan 2,3-dioxygenase (TDO2), mRNA. 22 tryptophan catabolic process to kynurenine cytosol tryptophan 2,3-dioxygenase activity breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 18 all_hematologic(180;0.24) Renal(120;0.0854) KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141) L-Tryptophan(DB00150) CCCCGTAGAAGGCAGCGAAGA 0.388000 20 36 0 0 1 0 0 GJD2 57369 broad.mit.edu 37 15 35045227 35045227 + Nonsense_Mutation SNP G G A TCGA-DJ-A4V2-01A-11D-A257-08 TCGA-DJ-A4V2-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c5ac429-f523-4c6c-b4d6-0de91d50a945 47627937-0a98-41cf-ac54-096a2900b4ae g.chr15:35045227G>A uc001zis.1 - 1 418 c.418C>T c.(418-420)Cga>Tga p.R140* AK092087_uc001zit.1_5'Flank NM_020660 NP_065711 Q9UKL4 CXD2_HUMAN Homo sapiens gap junction protein, delta 2, 36kDa (GJD2), mRNA. 140 synaptic transmission connexon complex|integral to membrane gap junction channel activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1) 19 all_lung(180;9.67e-07) all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156) TTATCTTCTCGTTTGCCCCCA 0.532000 40 132 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A4V2-01A-11D-A257-08 TCGA-DJ-A4V2-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c5ac429-f523-4c6c-b4d6-0de91d50a945 47627937-0a98-41cf-ac54-096a2900b4ae g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 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(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(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 26 43 0 0 1 0 0 CDH9 1007 broad.mit.edu 37 5 26903745 26903745 + Missense_Mutation SNP C C T TCGA-DJ-A4V2-01A-11D-A257-08 TCGA-DJ-A4V2-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c5ac429-f523-4c6c-b4d6-0de91d50a945 47627937-0a98-41cf-ac54-096a2900b4ae g.chr5:26903745C>T uc010iug.3 - 5 1169 c.1000G>A c.(1000-1002)Gtt>Att p.V334I CDH9_uc003jgs.1_Splice_Site_p.Q333_splice NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA. 0 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 TGAAAAGAAACCTGTTTGACA 0.383000 7 183 0 0 1 0 0 ATR 545 broad.mit.edu 37 3 142266707 142266707 + Nonsense_Mutation SNP G G A TCGA-DJ-A4V2-01A-11D-A257-08 TCGA-DJ-A4V2-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c5ac429-f523-4c6c-b4d6-0de91d50a945 47627937-0a98-41cf-ac54-096a2900b4ae g.chr3:142266707G>A uc003eux.4 - 15 3339 c.3217C>T c.(3217-3219)Caa>Taa p.Q1073* NM_001184 NP_001175 Q13535 ATR_HUMAN Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA. 1073 DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 TGCAATCCTTGGAAATCTTGT 0.348000 Other conserved DNA damage response genes 16 32 0 0 1 0 0 CEP164 22897 broad.mit.edu 37 11 117280645 117280645 + Missense_Mutation SNP G G A TCGA-DJ-A4V2-01A-11D-A257-08 TCGA-DJ-A4V2-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c5ac429-f523-4c6c-b4d6-0de91d50a945 47627937-0a98-41cf-ac54-096a2900b4ae g.chr11:117280645G>A uc001prc.3 + 29 4207 c.4060G>A c.(4060-4062)Gac>Aac p.D1354N CEP164_uc001prb.3_Missense_Mutation_p.D1349N|CEP164_uc001prf.3_Non-coding_Transcript|CEP164_uc009yzp.1_Non-coding_Transcript|CEP164_uc001prg.1_Missense_Mutation_p.D779N NM_014956 NP_055771 Q9UPV0 CE164_HUMAN Homo sapiens centrosomal protein 164kDa (CEP164), mRNA. 1354 DNA repair|G2/M transition of mitotic cell cycle|cell division|mitosis centriole|cytosol|nucleus breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3) 47 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008) AACGGTGGACGACTTCCTGTT 0.587000 25 61 0 0 1 0 0 CD74 972 broad.mit.edu 37 5 149784320 149784321 + Frame_Shift_Del DEL CT CT - TCGA-DJ-A4V2-01A-11D-A257-08 TCGA-DJ-A4V2-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c5ac429-f523-4c6c-b4d6-0de91d50a945 47627937-0a98-41cf-ac54-096a2900b4ae g.chr5:149784320_149784321delCT uc003lsc.3 - 5 734_735 c.547_548delAG c.(547-549)agcfs p.S183fs CD74_uc003lsd.3_Frame_Shift_Del_p.S183fs|CD74_uc003lse.3_Intron NM_001025159 NP_001020330 P04233 HG2A_HUMAN Homo sapiens CD74 molecule, major histocompatibility complex, class II invariant chain (CD74), transcript variant 1, mRNA. 183 antigen processing and presentation of endogenous antigen|cell proliferation|immunoglobulin mediated immune response|intracellular protein transport|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of apoptosis|negative regulation of peptide secretion|positive regulation of B cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of cytokine-mediated signaling pathway|positive regulation of fibroblast proliferation|positive regulation of macrophage cytokine production|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|prostaglandin biosynthetic process|protein complex assembly|regulation of macrophage activation Golgi apparatus|endoplasmic reticulum membrane|integral to membrane|lysosome|receptor complex MHC class II protein binding|beta-amyloid binding|cytokine receptor activity|identical protein binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1) 5 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GTGCATCCAGCTCTCAAAGACC 0.559 T ROS1 NSCLC 2 4 --- --- --- --- CPD 1362 broad.mit.edu 37 17 28706683 28706683 + Frame_Shift_Del DEL C C - TCGA-DJ-A4V2-01A-11D-A257-08 TCGA-DJ-A4V2-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5c5ac429-f523-4c6c-b4d6-0de91d50a945 47627937-0a98-41cf-ac54-096a2900b4ae g.chr17:28706683delC uc002hfb.2 + 0 742 c.685delC c.(685-687)cccfs p.P229fs CPD_uc010wbo.2_5'Flank|CPD_uc010wbp.2_5'Flank NM_001304 NP_001295 O75976 CBPD_HUMAN Homo sapiens carboxypeptidase D (CPD), transcript variant 1, mRNA. 229 Carboxypeptidase-like 1. proteolysis integral to membrane metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1) 36 CACCGGCGAACCCCCCGCCCT 0.701 3 5 --- --- --- ---