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 SH2D6 284948 broad.mit.edu 37 2 85663607 85663607 + Missense_Mutation SNP G G A TCGA-DJ-A13S-01A-11D-A10S-08 TCGA-DJ-A13S-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b564c58-40b0-4d9b-a372-12249a31a765 22668d43-8a18-4cd4-ad8e-ec4e37ce4a38 g.chr2:85663607G>A uc002spq.3 + 3 591 c.430G>A c.(430-432)Gcc>Acc p.A144T SH2D6_uc002spo.3_Non-coding_Transcript|SH2D6_uc002spp.3_Non-coding_Transcript NM_198482 NP_940884 Q7Z4S9 SH2D6_HUMAN Homo sapiens SH2 domain containing 6 (SH2D6), mRNA. 144 SH2. central_nervous_system(1)|lung(2) 3 CTCCGTGGCGGCCATGGTCCA 0.632000 4 70 0 0 1 0 0 RAB3C 115827 broad.mit.edu 37 5 58120914 58120914 + Missense_Mutation SNP G G T TCGA-DJ-A13S-01A-11D-A10S-08 TCGA-DJ-A13S-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b564c58-40b0-4d9b-a372-12249a31a765 22668d43-8a18-4cd4-ad8e-ec4e37ce4a38 g.chr5:58120914G>T uc003jrp.3 + 3 518 c.421G>T c.(421-423)Gtt>Ttt p.V141F NM_138453 NP_612462 Q96E17 RAB3C_HUMAN Homo sapiens RAB3C, member RAS oncogene family (RAB3C), mRNA. 141 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1) 21 all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664) OV - Ovarian serous cystadenocarcinoma(10;1.8e-34) AGTTATTCTGGTTGGGAACAA 0.398000 37 65 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9069489 9069489 + Missense_Mutation SNP G G T TCGA-DJ-A13S-01A-11D-A10S-08 TCGA-DJ-A13S-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b564c58-40b0-4d9b-a372-12249a31a765 22668d43-8a18-4cd4-ad8e-ec4e37ce4a38 g.chr19:9069489G>T uc002mkp.3 - 2 18161 c.17957C>A c.(17956-17958)gCa>gAa p.A5986E NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 5988 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.A5986E(3)|p.S5985I(2)|p.A1619E(1) 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 GAAGCTACTTGCACTTGGTAA 0.483000 100 175 0 0 1 0 0 EPB41L1 2036 broad.mit.edu 37 20 34809819 34809819 + Missense_Mutation SNP G G A TCGA-DJ-A13S-01A-11D-A10S-08 TCGA-DJ-A13S-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b564c58-40b0-4d9b-a372-12249a31a765 22668d43-8a18-4cd4-ad8e-ec4e37ce4a38 g.chr20:34809819G>A uc010gfq.3 + 9 3130 c.2767G>A c.(2767-2769)Gag>Aag p.E923K EPB41L1_uc002xeu.3_Missense_Mutation_p.E723K|EPB41L1_uc002xev.3_Missense_Mutation_p.E824K|EPB41L1_uc002xew.3_Missense_Mutation_p.E716K|EPB41L1_uc002xex.3_Missense_Mutation_p.E645K|EPB41L1_uc002xey.3_Missense_Mutation_p.E575K|EPB41L1_uc002xez.3_Missense_Mutation_p.E723K|EPB41L1_uc002xfb.3_Missense_Mutation_p.E825K NM_012156 NP_036288 Q9H4G0 E41L1_HUMAN Homo sapiens erythrocyte membrane protein band 4.1-like 1 (EPB41L1), transcript variant 1, mRNA. 825 cortical actin cytoskeleton organization|synaptic transmission cytoskeleton|cytosol|extrinsic to membrane|plasma membrane actin binding|structural molecule activity breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 37 Breast(12;0.0239) GACAAGGATCGAGAAGCGAAT 0.552000 27 51 0 0 1 0 0 NAV3 89795 broad.mit.edu 37 12 78401006 78401006 + Missense_Mutation SNP A A C TCGA-DJ-A13S-01A-11D-A10S-08 TCGA-DJ-A13S-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b564c58-40b0-4d9b-a372-12249a31a765 22668d43-8a18-4cd4-ad8e-ec4e37ce4a38 g.chr12:78401006A>C uc001syp.3 + 7 1861 c.1688A>C c.(1687-1689)cAg>cCg p.Q563P NAV3_uc001syo.3_Missense_Mutation_p.Q563P NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN Homo sapiens neuron navigator 3 (NAV3), mRNA. 563 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 AGCCCTTCCCAGTCCTTATCT 0.498000 HNSCC(70;0.22) 53 88 0 0 1 0 0 CDKL5 6792 broad.mit.edu 37 X 18664181 18664181 + Missense_Mutation SNP G G A TCGA-DJ-A13S-01A-11D-A10S-08 TCGA-DJ-A13S-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b564c58-40b0-4d9b-a372-12249a31a765 22668d43-8a18-4cd4-ad8e-ec4e37ce4a38 g.chrX:18664181G>A uc004cym.3 + 18 3021 c.2768G>A c.(2767-2769)cGc>cAc p.R923H CDKL5_uc004cyn.3_Missense_Mutation_p.R923H|RS1_uc004cyo.3_Intron NM_003159 NP_003150 O76039 CDKL5_HUMAN Homo sapiens cyclin-dependent kinase-like 5 (CDKL5), transcript variant I, mRNA. 923 R -> C. neuron migration|positive regulation of Rac GTPase activity|positive regulation of axon extension|positive regulation of dendrite morphogenesis|protein autophosphorylation dendrite cytoplasm|dendritic growth cone|nucleus ATP binding|Rac GTPase binding|cyclin-dependent protein kinase activity p.R922K(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1) 44 Hepatocellular(33;0.183) caagatagacgcttcatgtta 0.478000 20 77 0 0 1 0 0 CEP350 9857 broad.mit.edu 37 1 180010893 180010893 + Nonsense_Mutation SNP G G T TCGA-DJ-A13S-01A-11D-A10S-08 TCGA-DJ-A13S-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b564c58-40b0-4d9b-a372-12249a31a765 22668d43-8a18-4cd4-ad8e-ec4e37ce4a38 g.chr1:180010893G>T uc001gnt.3 + 18 4701 c.4318G>T c.(4318-4320)Gaa>Taa p.E1440* CEP350_uc009wxl.2_Nonsense_Mutation_p.E1439* NM_014810 NP_055625 Q5VT06 CE350_HUMAN Homo sapiens centrosomal protein 350kDa (CEP350), mRNA. 1440 centrosome|nucleus|spindle central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 66 TCAGCAGTCAGAAACTGCTCG 0.458000 3 31 0 0 1 0 0 BOC 91653 broad.mit.edu 37 3 112993298 112993298 + Missense_Mutation SNP C C A TCGA-DJ-A13S-01A-11D-A10S-08 TCGA-DJ-A13S-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b564c58-40b0-4d9b-a372-12249a31a765 22668d43-8a18-4cd4-ad8e-ec4e37ce4a38 g.chr3:112993298C>A uc003dzz.3 + 8 1650 c.1311C>A c.(1309-1311)aaC>aaA p.N437K BOC_uc003dzx.3_Missense_Mutation_p.N437K|BOC_uc003dzy.3_Missense_Mutation_p.N437K|BOC_uc003eab.3_Missense_Mutation_p.N138K NM_033254 NP_150279 Q9BWV1 BOC_HUMAN Homo sapiens Boc homolog (mouse) (BOC), mRNA. 437 cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation integral to membrane|plasma membrane protein binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 Epithelial(53;0.227) AACTCGGCAACCCTGAGCAGA 0.632000 14 135 0 0 1 0 0 KLHDC2 23588 broad.mit.edu 37 14 50241313 50241313 + Missense_Mutation SNP T T C TCGA-DJ-A13S-01A-11D-A10S-08 TCGA-DJ-A13S-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b564c58-40b0-4d9b-a372-12249a31a765 22668d43-8a18-4cd4-ad8e-ec4e37ce4a38 g.chr14:50241313T>C uc001wwx.3 + 2 668 c.268T>C c.(268-270)Tct>Cct p.S90P NEMF_uc010anj.1_Intron NM_014315 NP_055130 Q9Y2U9 KLDC2_HUMAN Homo sapiens kelch domain containing 2 (KLHDC2), mRNA. 90 nucleus protein binding endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_epithelial(31;0.000959)|Breast(41;0.0117) TGTTCCTCCTTCTATGTCAGG 0.383000 20 283 0 0 1 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T C rs11554290 TCGA-DJ-A13S-01A-11D-A10S-08 TCGA-DJ-A13S-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b564c58-40b0-4d9b-a372-12249a31a765 22668d43-8a18-4cd4-ad8e-ec4e37ce4a38 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) 124 186 0 0 1 0 0 MATR3 9782 broad.mit.edu 37 5 138643173 138643173 + Silent SNP G G A TCGA-DJ-A13S-01A-11D-A10S-08 TCGA-DJ-A13S-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b564c58-40b0-4d9b-a372-12249a31a765 22668d43-8a18-4cd4-ad8e-ec4e37ce4a38 g.chr5:138643173G>A uc003ldw.3 + 2 472 c.69G>A c.(67-69)gcG>gcA p.A23A MATR3_uc003lds.3_Silent_p.A23A|MATR3_uc003ldt.3_Intron|MATR3_uc003ldu.3_Silent_p.A23A|MATR3_uc010jfb.3_Silent_p.A23A|MATR3_uc003ldx.3_Silent_p.A23A|MATR3_uc003ldy.3_Intron|MATR3_uc003ldz.3_Silent_p.A23A|MATR3_uc011czb.2_Intron NM_018834 NP_954659 P43243 MATR3_HUMAN Homo sapiens matrin 3 (MATR3), transcript variant 2, mRNA. 23 nuclear inner membrane|nuclear matrix RNA binding|nucleotide binding|protein binding|structural molecule activity|zinc ion binding breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 29 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) ACCTGTCTGCGGCAGGAATAG 0.478000 64 151 0 0 1 0 0 PTPN13 5783 broad.mit.edu 37 4 87662917 87662917 + Missense_Mutation SNP G G A TCGA-DJ-A13S-01A-11D-A10S-08 TCGA-DJ-A13S-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b564c58-40b0-4d9b-a372-12249a31a765 22668d43-8a18-4cd4-ad8e-ec4e37ce4a38 g.chr4:87662917G>A uc003hpy.3 + 15 2915 c.2435G>A c.(2434-2436)cGc>cAc p.R812H PTPN13_uc003hpz.3_Missense_Mutation_p.R812H|PTPN13_uc003hqa.3_Missense_Mutation_p.R812H|PTPN13_uc003hqb.3_Missense_Mutation_p.R812H NM_080685 NP_542416 Q12923 PTN13_HUMAN Homo sapiens protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) (PTPN13), transcript variant 4, mRNA. 812 FERM. cytoplasm|cytoskeleton|plasma membrane protein binding|protein tyrosine phosphatase activity NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) AATGGAGTGCGCACATTGGTC 0.388000 3 36 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168105213 168105213 + Silent SNP G G A TCGA-DJ-A13S-01A-11D-A10S-08 TCGA-DJ-A13S-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b564c58-40b0-4d9b-a372-12249a31a765 22668d43-8a18-4cd4-ad8e-ec4e37ce4a38 g.chr2:168105213G>A uc002udx.3 + 8 7400 c.7311G>A c.(7309-7311)aaG>aaA p.K2437K XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.K2262K|XIRP2_uc010fpq.3_Silent_p.K2215K|XIRP2_uc010fpr.3_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 2262 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 AAGATAATAAGAACGATTTTT 0.403000 47 94 0 0 1 0 0