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 MAGEC2 51438 broad.mit.edu 37 X 141291129 141291129 + Silent SNP G G A TCGA-EM-A2CR-01A-11D-A17V-08 TCGA-EM-A2CR-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 93d1a3b9-03a4-4996-a346-29265d03c432 1150e291-cd97-4352-adc9-55a58fa846b5 g.chrX:141291129G>A uc004fbu.2 - 2 993 c.645C>T c.(643-645)acC>acT p.T215T MAGEC2_uc022cfj.1_Silent_p.T215T NM_016249 NP_057333 Q9UBF1 MAGC2_HUMAN Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA. 215 MAGE. cytoplasm|nucleus NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3) 47 Acute lymphoblastic leukemia(192;6.56e-05) TACCCTCATCGGTGAGGCCTA 0.507000 HNSCC(46;0.14) 84 133 0 0 1 0 0 ZNF155 7711 broad.mit.edu 37 19 44500960 44500960 + Silent SNP G G A TCGA-EM-A2CR-01A-11D-A17V-08 TCGA-EM-A2CR-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 93d1a3b9-03a4-4996-a346-29265d03c432 1150e291-cd97-4352-adc9-55a58fa846b5 g.chr19:44500960G>A uc010xwt.1 + 5 1168 c.984G>A c.(982-984)agG>agA p.R328R ZNF155_uc002oxy.1_Silent_p.R317R|ZNF155_uc002oxz.1_Silent_p.R317R NM_198089 NP_932355 Q12901 ZN155_HUMAN Homo sapiens zinc finger protein 155 (ZNF155), transcript variant 2, mRNA. 317 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 15 Prostate(69;0.0352) AACCATTTAGGTGTGATACAT 0.413000 5 104 0 0 1 0 0 DGCR8 54487 broad.mit.edu 37 22 20079439 20079439 + Missense_Mutation SNP G G A TCGA-EM-A2CR-01A-11D-A17V-08 TCGA-EM-A2CR-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 93d1a3b9-03a4-4996-a346-29265d03c432 1150e291-cd97-4352-adc9-55a58fa846b5 g.chr22:20079439G>A uc002zri.3 + 6 1981 c.1552G>A c.(1552-1554)Gag>Aag p.E518K DGCR8_uc010grz.3_Missense_Mutation_p.E518K|DGCR8_uc002zrj.3_Missense_Mutation_p.E161K NM_022720 NP_073557 Q8WYQ5 DGCR8_HUMAN Homo sapiens DiGeorge syndrome critical region gene 8 (DGCR8), transcript variant 1, mRNA. 518 DRBM 1.|Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA. primary miRNA processing cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 22 Colorectal(54;0.0993) CATCCTGCACGAGTACATGCA 0.463000 26 8 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9084433 9084433 + Missense_Mutation SNP G G T TCGA-EM-A2CR-01A-11D-A17V-08 TCGA-EM-A2CR-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 93d1a3b9-03a4-4996-a346-29265d03c432 1150e291-cd97-4352-adc9-55a58fa846b5 g.chr19:9084433G>T uc002mkp.3 - 0 7586 c.7382C>A c.(7381-7383)aCa>aAa p.T2461K NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 2461 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGCCGAGCTTGTCTCGACAGG 0.507000 13 38 0 0 1 0 0 PRB2 653247 broad.mit.edu 37 12 11546273 11546273 + Missense_Mutation SNP G G A TCGA-EM-A2CR-01A-11D-A17V-08 TCGA-EM-A2CR-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 93d1a3b9-03a4-4996-a346-29265d03c432 1150e291-cd97-4352-adc9-55a58fa846b5 g.chr12:11546273G>A uc010shk.1 - 2 774 c.739C>T c.(739-741)Cca>Tca p.P247S NM_006248 NP_006239 Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA. p.P247Q(1) NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) CCTCCTTGTGGGGGTGGTCCT 0.617000 110 174 0 0 1 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T C rs11554290 TCGA-EM-A2CR-01A-11D-A17V-08 TCGA-EM-A2CR-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 93d1a3b9-03a4-4996-a346-29265d03c432 1150e291-cd97-4352-adc9-55a58fa846b5 g.chr1:115256529T>C uc009wgu.3 - 2 436 c.182A>G c.(181-183)cAa>cGa p.Q61R NM_002524 NP_002515 P01111 RASN_HUMAN Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA. 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 62 104 0 0 1 0 0 MCF2L2 23101 broad.mit.edu 37 3 183041038 183041038 + Nonsense_Mutation SNP C C T TCGA-EM-A2CR-01A-11D-A17V-08 TCGA-EM-A2CR-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 93d1a3b9-03a4-4996-a346-29265d03c432 1150e291-cd97-4352-adc9-55a58fa846b5 g.chr3:183041038C>T uc003fli.1 - 5 678 c.588G>A c.(586-588)tgG>tgA p.W196* MCF2L2_uc003flj.1_Nonsense_Mutation_p.W196*|MCF2L2_uc003flp.1_Nonsense_Mutation_p.W231* NM_015078 NP_055893 Q86YR7 MF2L2_HUMAN Homo sapiens MCF.2 cell line derived transforming sequence-like 2 (MCF2L2), mRNA. 196 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(143;1.26e-12)|Ovarian(172;0.0355) all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) GGTGATTTACCCACTGACCGT 0.502000 4 96 0 0 1 0 0 VMP1 81671 broad.mit.edu 37 17 57842412 57842412 + Missense_Mutation SNP G G C TCGA-EM-A2CR-01A-11D-A17V-08 TCGA-EM-A2CR-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 93d1a3b9-03a4-4996-a346-29265d03c432 1150e291-cd97-4352-adc9-55a58fa846b5 g.chr17:57842412G>C uc002ixu.4 + 5 768 c.495G>C c.(493-495)caG>caC p.Q165H VMP1_uc010wog.2_5'UTR|VMP1_uc010woh.2_Intron|VMP1_uc010woi.2_Missense_Mutation_p.Q68H|VMP1_uc010woj.2_Missense_Mutation_p.Q31H NM_030938 NP_112200 Q96GC9 VMP1_HUMAN Homo sapiens vacuole membrane protein 1 (VMP1), mRNA. 165 autophagy|cell adhesion ER-Golgi intermediate compartment membrane|endoplasmic reticulum|integral to membrane|plasma membrane|vacuolar membrane breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2) 16 ATCCTGATCAGATTATTTGTC 0.388000 3 65 0 0 1 0 0 NEK8 284086 broad.mit.edu 37 17 27061954 27061954 + Missense_Mutation SNP C C T TCGA-EM-A2CR-01A-11D-A17V-08 TCGA-EM-A2CR-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 93d1a3b9-03a4-4996-a346-29265d03c432 1150e291-cd97-4352-adc9-55a58fa846b5 g.chr17:27061954C>T uc002hcp.3 + 2 418 c.418C>T c.(418-420)Cgc>Tgc p.R140C NM_178170 NP_835464 Q86SG6 NEK8_HUMAN Homo sapiens NIMA (never in mitosis gene a)- related kinase 8 (NEK8), mRNA. 140 Protein kinase. cytoplasm|primary cilium ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.R140S(2) breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Lung NSC(42;0.0158) TGACAAACACCGCATGGTCGT 0.562000 68 114 0 0 1 0 0 SIRPB1 10326 broad.mit.edu 37 20 1551539 1551539 + Silent SNP C C T TCGA-EM-A2CR-01A-11D-A17V-08 TCGA-EM-A2CR-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 93d1a3b9-03a4-4996-a346-29265d03c432 1150e291-cd97-4352-adc9-55a58fa846b5 g.chr20:1551539C>T uc010gai.3 - 3 1095 c.996G>A c.(994-996)gtG>gtA p.V332V SIRPB1_uc002wfk.4_Intron NM_006065 NP_006056 O00241 SIRB1_HUMAN Homo sapiens signal-regulatory protein beta 1 (SIRPB1), transcript variant 1, mRNA. 332 Ig-like C1-type 2. cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 CATCATGCTCCACCTGACAGG 0.562000 55 96 0 0 1 0 0 TMEM37 140738 broad.mit.edu 37 2 120194901 120194901 + Missense_Mutation SNP T T C TCGA-EM-A2CR-01A-11D-A17V-08 TCGA-EM-A2CR-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 93d1a3b9-03a4-4996-a346-29265d03c432 1150e291-cd97-4352-adc9-55a58fa846b5 g.chr2:120194901T>C uc002tly.3 + 1 492 c.458T>C c.(457-459)gTc>gCc p.V153A NM_183240 NP_899063 Q8WXS4 CCGL_HUMAN Homo sapiens transmembrane protein 37 (TMEM37), mRNA. 153 integral to membrane calcium channel activity|voltage-gated ion channel activity breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 11 AGGAACCAAGTCACACTCATC 0.552000 7 363 0 0 1 0 0 CXCL13 10563 broad.mit.edu 37 4 78532142 78532142 + Splice_Site SNP A A T TCGA-EM-A2CR-01A-11D-A17V-08 TCGA-EM-A2CR-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 93d1a3b9-03a4-4996-a346-29265d03c432 1150e291-cd97-4352-adc9-55a58fa846b5 g.chr4:78532142A>T uc003hkr.3 + 5 357 c.279_splice c.e5-1 p.K93_splice NM_006419 NP_006410 O43927 CXL13_HUMAN Homo sapiens chemokine (C-X-C motif) ligand 13 (CXCL13), mRNA. 93 B cell chemotaxis|activation of Rap GTPase activity|cell-cell signaling|chronic inflammatory response|defense response to bacterium|elevation of cytosolic calcium ion concentration|endothelial cell chemotaxis to fibroblast growth factor|germinal center formation|lymphocyte chemotaxis across high endothelial venule|negative regulation of apoptosis|positive regulation of T cell chemotaxis|positive regulation of cell-cell adhesion mediated by integrin|positive regulation of integrin activation|regulation of angiogenesis|regulation of humoral immune response extracellular space|soluble fraction CCR10 chemokine receptor binding|CXCR3 chemokine receptor binding|CXCR5 chemokine receptor binding|chemokine activity|fibroblast growth factor 2 binding|heparin binding|protein heterodimerization activity|receptor agonist activity large_intestine(1)|ovary(1)|skin(1)|urinary_tract(1) 4 TGCTTCACAGAAGAAGTTCTT 0.408000 46 74 0 0 1 0 0 CHRNA9 55584 broad.mit.edu 37 4 40351126 40351126 + Missense_Mutation SNP T T C TCGA-EM-A2CR-01A-11D-A17V-08 TCGA-EM-A2CR-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 93d1a3b9-03a4-4996-a346-29265d03c432 1150e291-cd97-4352-adc9-55a58fa846b5 g.chr4:40351126T>C uc003gva.1 + 3 609 c.593T>C c.(592-594)aTt>aCt p.I198T NM_017581 NP_060051 Q9UGM1 ACHA9_HUMAN Homo sapiens cholinergic receptor, nicotinic, alpha 9 (CHRNA9), mRNA. 198 elevation of cytosolic calcium ion concentration|synaptic transmission cell junction|postsynaptic membrane calcium channel activity|receptor activity p.F197F(1) breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1) 33 Nicotine(DB00184) TCTGACTTCATTGAAGATGTG 0.517000 6 191 0 0 1 0 0 RAB37 326624 broad.mit.edu 37 17 72725494 72725494 + Frame_Shift_Del DEL A A - TCGA-EM-A2CR-01A-11D-A17V-08 TCGA-EM-A2CR-10A-01D-A17V-08 Untested Somatic Phase_I WXS none Illumina GAIIx 93d1a3b9-03a4-4996-a346-29265d03c432 1150e291-cd97-4352-adc9-55a58fa846b5 g.chr17:72725494delA uc010dfu.3 + 1 642 c.172delA c.(172-174)atcfs p.I58fs RAB37_uc002jlc.2_Frame_Shift_Del_p.I58fs|RAB37_uc002jld.2_Frame_Shift_Del_p.I58fs NM_175738 NP_783865 Q96AX2 RAB37_HUMAN Homo sapiens RAB37, member RAS oncogene family (RAB37), transcript variant 3, mRNA. 65 protein transport|small GTPase mediated signal transduction ER-Golgi intermediate compartment GTP binding p.I58I(1)|p.I58M(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1) 12 CACTGTGGGCATCGGATTCAC 0.607 60 100 --- --- --- ---