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 MLL 4297 broad.mit.edu 37 11 118379887 118379887 + Missense_Mutation SNP A A C TCGA-E8-A419-01A-11D-A23M-08 TCGA-E8-A419-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59d39493-4797-45ee-ae2b-bbb49c3a801d bf895cab-a1b0-42e8-8b95-7cfe22084e9b g.chr11:118379887A>C uc001ptb.3 + 28 10895 c.10872A>C c.(10870-10872)caA>caC p.Q3624H MLL_uc001pta.3_Missense_Mutation_p.Q3621H NM_001197104 NP_001184033 Q03164 MLL1_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 1, mRNA. 3621 apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19) 131 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) AGGTGACCCAAAATCCAGCAA 0.368000 """T, O""" """MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB""" """AML, ALL""" 4 38 0 0 1 0 0 ZNF223 7766 broad.mit.edu 37 19 44564909 44564909 + Silent SNP A A G TCGA-E8-A419-01A-11D-A23M-08 TCGA-E8-A419-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59d39493-4797-45ee-ae2b-bbb49c3a801d bf895cab-a1b0-42e8-8b95-7cfe22084e9b g.chr19:44564909A>G uc002oyf.1 + 3 403 c.150A>G c.(148-150)caA>caG p.Q50Q ZNF284_uc010ejd.2_Non-coding_Transcript NM_013361 NP_037493 Q9UK11 ZN223_HUMAN Homo sapiens zinc finger protein 223 (ZNF223), mRNA. 50 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 18 Prostate(69;0.0352) CAGGGCATCAACCATTCCACC 0.408000 68 173 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-E8-A419-01A-11D-A23M-08 TCGA-E8-A419-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59d39493-4797-45ee-ae2b-bbb49c3a801d bf895cab-a1b0-42e8-8b95-7cfe22084e9b 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 28 62 0 0 1 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76495940 76495940 + Missense_Mutation SNP C C G TCGA-E8-A419-01A-11D-A23M-08 TCGA-E8-A419-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59d39493-4797-45ee-ae2b-bbb49c3a801d bf895cab-a1b0-42e8-8b95-7cfe22084e9b g.chr16:76495940C>G uc002fex.1 + 7 1569 c.1430C>G c.(1429-1431)gCt>gGt p.A477G CNTNAP4_uc002feu.1_Missense_Mutation_p.A473G|CNTNAP4_uc002fev.1_Missense_Mutation_p.A338G|CNTNAP4_uc010chb.1_Missense_Mutation_p.A401G|CNTNAP4_uc002few.2_Missense_Mutation_p.A449G NM_033401 NP_207837 Q9C0A0 CNTP4_HUMAN Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA. 474 Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 GGCCAGATGGCTTCTGCTGCT 0.488000 7 60 0 0 1 0 0 SHC3 53358 broad.mit.edu 37 9 91628470 91628470 + Silent SNP G G T TCGA-E8-A419-01A-11D-A23M-08 TCGA-E8-A419-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59d39493-4797-45ee-ae2b-bbb49c3a801d bf895cab-a1b0-42e8-8b95-7cfe22084e9b g.chr9:91628470G>T uc004aqf.2 - 11 1984 c.1677C>A c.(1675-1677)gtC>gtA p.V559V NM_016848 NP_058544 Q92529 SHC3_HUMAN Homo sapiens SHC (Src homology 2 domain containing) transforming protein 3 (SHC3), mRNA. 559 SH2. Ras protein signal transduction|central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway cytosol protein binding|signal transducer activity breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3) 28 TACTGTCAAAGACTCTGTCCT 0.493000 10 105 0 0 1 0 0 CCRN4L 25819 broad.mit.edu 37 4 139966572 139966572 + Missense_Mutation SNP C C G TCGA-E8-A419-01A-11D-A23M-08 TCGA-E8-A419-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59d39493-4797-45ee-ae2b-bbb49c3a801d bf895cab-a1b0-42e8-8b95-7cfe22084e9b g.chr4:139966572C>G uc003ihl.3 + 2 1433 c.1240C>G c.(1240-1242)Cac>Gac p.H414D NM_012118 NP_036250 Q9UK39 NOCT_HUMAN Homo sapiens CCR4 carbon catabolite repression 4-like (S. cerevisiae) (CCRN4L), mRNA. 414 rhythmic process|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity kidney(2)|large_intestine(3)|lung(3)|ovary(1) 9 all_hematologic(180;0.162) TCCTTCAGACCACCTGTCTCT 0.383000 25 73 0 0 1 0 0 LMLN 89782 broad.mit.edu 37 3 197723067 197723067 + Missense_Mutation SNP G G A TCGA-E8-A419-01A-11D-A23M-08 TCGA-E8-A419-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59d39493-4797-45ee-ae2b-bbb49c3a801d bf895cab-a1b0-42e8-8b95-7cfe22084e9b g.chr3:197723067G>A uc010iar.3 + 9 1091 c.1069G>A c.(1069-1071)Gat>Aat p.D357N LMLN_uc003fyt.3_Missense_Mutation_p.D305N|LMLN_uc011buo.2_Missense_Mutation_p.D357N|LMLN_uc010ias.3_Missense_Mutation_p.D305N|LMLN_uc003fyu.3_Missense_Mutation_p.D117N NM_001136049 NP_001129521 Q96KR4 LMLN_HUMAN Homo sapiens leishmanolysin-like (metallopeptidase M8 family) (LMLN), transcript variant 1, mRNA. 357 cell adhesion|cell division|mitosis|proteolysis cytoplasm|membrane metalloendopeptidase activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Lung NSC(153;0.132) Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.111) AAAACATTTTGATTGTCCAGT 0.368000 6 44 0 0 1 0 0