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 MAML1 9794 broad.mit.edu 37 5 179192842 179192842 + Silent SNP G G A TCGA-BJ-A45I-01A-11D-A23U-08 TCGA-BJ-A45I-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5b13884-6885-4ecd-b7a9-21085bca623a f7390ccb-39a9-4ca0-9666-40768e1512ec g.chr5:179192842G>A uc003mkm.3 + 1 1094 c.831G>A c.(829-831)gaG>gaA p.E277E MAML1_uc003mkn.1_Silent_p.E277E NM_014757 NP_055572 Q92585 MAML1_HUMAN Homo sapiens mastermind-like 1 (Drosophila) (MAML1), mRNA. 277 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck peptide antigen binding|protein kinase binding|transcription coactivator activity central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 36 all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218) all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ACTTCGAGGAGAAGAAGGACC 0.507000 5 60 0 0 1 0 0 CHRNA2 1135 broad.mit.edu 37 8 27324815 27324815 + Missense_Mutation SNP A A G TCGA-BJ-A45I-01A-11D-A23U-08 TCGA-BJ-A45I-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5b13884-6885-4ecd-b7a9-21085bca623a f7390ccb-39a9-4ca0-9666-40768e1512ec g.chr8:27324815A>G uc010lur.3 - 4 989 c.380T>C c.(379-381)tTt>tCt p.F127S CHRNA2_uc011lal.2_Missense_Mutation_p.F112S|CHRNA2_uc010lus.3_5'UTR NM_000742 NP_000733 Q15822 ACHA2_HUMAN Homo sapiens cholinergic receptor, nicotinic, alpha 2 (neuronal) (CHRNA2), mRNA. 127 cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 23 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136) Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199) GATGTTGCCAAAATCAGTGGG 0.542000 3 29 0 0 1 0 0 CDH4 1002 broad.mit.edu 37 20 60511927 60511927 + Missense_Mutation SNP T T C TCGA-BJ-A45I-01A-11D-A23U-08 TCGA-BJ-A45I-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5b13884-6885-4ecd-b7a9-21085bca623a f7390ccb-39a9-4ca0-9666-40768e1512ec g.chr20:60511927T>C uc002ybn.2 + 15 2765 c.2677T>C c.(2677-2679)Tac>Cac p.Y893H CDH4_uc002ybr.2_Missense_Mutation_p.Y856H|CDH4_uc002ybp.2_Missense_Mutation_p.Y819H NM_001794 NP_001785 P55283 CADH4_HUMAN Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA. 893 adherens junction organization|cell junction assembly calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) GGACCAAGACTACGATTACCT 0.587000 3 26 0 0 1 0 0 SUFU 51684 broad.mit.edu 37 10 104309838 104309838 + Silent SNP C C T TCGA-BJ-A45I-01A-11D-A23U-08 TCGA-BJ-A45I-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5b13884-6885-4ecd-b7a9-21085bca623a f7390ccb-39a9-4ca0-9666-40768e1512ec g.chr10:104309838C>T uc001kvy.2 + 2 620 c.429C>T c.(427-429)ggC>ggT p.G143G SUFU_uc001kvw.2_Silent_p.G143G|SUFU_uc001kvx.3_Silent_p.G143G NM_016169 NP_057253 Q9UMX1 SUFU_HUMAN Homo sapiens suppressor of fused homolog (Drosophila) (SUFU), transcript variant 1, mRNA. 143 negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development cytoplasm|nucleus identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2) 24 Colorectal(252;0.207) Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242) TAATGCAGGGCTTGGCACGAT 0.537000 """D, F, S""" medulloblastoma medulloblastoma Medulloblastoma, associated with Germline SUFU Mutation 4 41 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-BJ-A45I-01A-11D-A23U-08 TCGA-BJ-A45I-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5b13884-6885-4ecd-b7a9-21085bca623a f7390ccb-39a9-4ca0-9666-40768e1512ec 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 7 36 0 0 1 0 0 LRGUK 136332 broad.mit.edu 37 7 133868563 133868563 + Missense_Mutation SNP C C T TCGA-BJ-A45I-01A-11D-A23U-08 TCGA-BJ-A45I-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5b13884-6885-4ecd-b7a9-21085bca623a f7390ccb-39a9-4ca0-9666-40768e1512ec g.chr7:133868563C>T uc003vrm.1 + 10 1308 c.1292C>T c.(1291-1293)gCc>gTc p.A431V NM_144648 NP_653249 Q96M69 LRGUK_HUMAN Homo sapiens leucine-rich repeats and guanylate kinase domain containing (LRGUK), mRNA. 431 Guanylate kinase-like. ATP binding|kinase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 49 CGAGAGCTTGCCCATCGCCTC 0.468000 6 103 0 0 1 0 0 LRRC8B 23507 broad.mit.edu 37 1 90049454 90049454 + Silent SNP G G A TCGA-BJ-A45I-01A-11D-A23U-08 TCGA-BJ-A45I-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5b13884-6885-4ecd-b7a9-21085bca623a f7390ccb-39a9-4ca0-9666-40768e1512ec g.chr1:90049454G>A uc001dni.3 + 6 1752 c.1245G>A c.(1243-1245)gtG>gtA p.V415V LRRC8B_uc001dnh.3_Silent_p.V415V|LRRC8B_uc001dnj.3_Silent_p.V415V NM_001134476 NP_056165 Q6P9F7 LRC8B_HUMAN Homo sapiens leucine rich repeat containing 8 family, member B (LRRC8B), transcript variant 2, mRNA. 415 integral to membrane breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 26 all_lung(203;0.17) all cancers(265;0.00515)|Epithelial(280;0.0241) GTAAGCTTGTGAAAAATGCCC 0.403000 4 54 0 0 1 0 0 ANK2 287 broad.mit.edu 37 4 114163300 114163300 + Silent SNP A A C TCGA-BJ-A45I-01A-11D-A23U-08 TCGA-BJ-A45I-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5b13884-6885-4ecd-b7a9-21085bca623a f7390ccb-39a9-4ca0-9666-40768e1512ec g.chr4:114163300A>C uc003ibe.4 + 8 926 c.826A>C c.(826-828)Aga>Cga p.R276R ANK2_uc003ibd.4_Silent_p.R255R|ANK2_uc003ibf.4_Silent_p.R276R|ANK2_uc003ibc.2_Silent_p.R252R|ANK2_uc011cgb.1_Silent_p.R291R NM_001148 NP_001139 Q01484 ANK2_HUMAN Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA. 276 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding p.R276T(1) NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) GGCTTCCAAAAGAGGAAATAC 0.453000 14 31 0 0 1 0 0 C11orf58 10944 broad.mit.edu 37 11 16760369 16760369 + Missense_Mutation SNP C C T TCGA-BJ-A45I-01A-11D-A23U-08 TCGA-BJ-A45I-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5b13884-6885-4ecd-b7a9-21085bca623a f7390ccb-39a9-4ca0-9666-40768e1512ec g.chr11:16760369C>T uc001mmk.2 + 0 222 c.44C>T c.(43-45)tCa>tTa p.S15L SOX6_uc001mmh.1_5'Flank NM_014267 NP_055082 O00193 SMAP_HUMAN Homo sapiens chromosome 11 open reading frame 58 (C11orf58), mRNA. 15 NS(1)|endometrium(1)|lung(3)|prostate(1)|skin(1) 7 GTGAAGCGTTCAGCCTCCCCA 0.597000 3 35 0 0 1 0 0 PRMT10 90826 broad.mit.edu 37 4 148579090 148579090 + Missense_Mutation SNP T T A TCGA-BJ-A45I-01A-11D-A23U-08 TCGA-BJ-A45I-11A-11D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx b5b13884-6885-4ecd-b7a9-21085bca623a f7390ccb-39a9-4ca0-9666-40768e1512ec g.chr4:148579090T>A uc003ilc.3 - 7 1325 c.1183A>T c.(1183-1185)Att>Ttt p.I395F PRMT10_uc003ilb.3_Missense_Mutation_p.I39F|PRMT10_uc003ild.3_Missense_Mutation_p.I282F NM_138364 NP_612373 Q6P2P2 ANM10_HUMAN Homo sapiens protein arginine methyltransferase 10 (putative) (PRMT10), mRNA. 395 cytoplasm binding|protein methyltransferase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 28 GGAATACCAATCTTATCAGGC 0.333000 3 19 0 0 1 0 0