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 RETN 56729 broad.mit.edu 37 19 7734285 7734285 + Missense_Mutation SNP G G A TCGA-FY-A3ON-01A-11D-A21Z-08 TCGA-FY-A3ON-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2b661b1c-472f-4911-83b6-ebf16248fe8f f0119845-2a2b-4d0d-9f2e-24264ef9121c g.chr19:7734285G>A uc002mhg.1 + 1 110 c.73G>A c.(73-75)Gaa>Aaa p.E25K RETN_uc002mhf.1_Missense_Mutation_p.E25K|RETN_uc010dvm.1_Non-coding_Transcript NM_001193374 NP_065148 Q9HD89 RETN_HUMAN Homo sapiens resistin (RETN), transcript variant 2, mRNA. 25 hormone activity ovary(1) 1 GTGCTCCATGGAAGAAGCCAT 0.587000 11 175 0 0 1 0 0 HCLS1 3059 broad.mit.edu 37 3 121351231 121351231 + Missense_Mutation SNP G G C TCGA-FY-A3ON-01A-11D-A21Z-08 TCGA-FY-A3ON-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2b661b1c-472f-4911-83b6-ebf16248fe8f f0119845-2a2b-4d0d-9f2e-24264ef9121c g.chr3:121351231G>C uc003eeh.4 - 11 1313 c.1188C>G c.(1186-1188)gaC>gaG p.D396E HCLS1_uc011bjj.2_Missense_Mutation_p.D359E|HCLS1_uc011bjk.1_Non-coding_Transcript NM_005335 NP_005326 P14317 HCLS1_HUMAN Homo sapiens hematopoietic cell-specific Lyn substrate 1 (HCLS1), mRNA. 396 erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus mitochondrion|nucleus|plasma membrane DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 GBM - Glioblastoma multiforme(114;0.0912) CCTCCTCATAGTCCCCCTCTG 0.557000 8 380 0 0 1 0 0 MAP1B 4131 broad.mit.edu 37 5 71490028 71490028 + Missense_Mutation SNP G G C TCGA-FY-A3ON-01A-11D-A21Z-08 TCGA-FY-A3ON-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2b661b1c-472f-4911-83b6-ebf16248fe8f f0119845-2a2b-4d0d-9f2e-24264ef9121c g.chr5:71490028G>C uc003kbw.4 + 4 1087 c.846G>C c.(844-846)atG>atC p.M282I MAP1B_uc010iyw.1_Missense_Mutation_p.M299I|MAP1B_uc010iyx.1_Missense_Mutation_p.M156I|MAP1B_uc010iyy.1_Missense_Mutation_p.M156I NM_005909 NP_005900 P46821 MAP1B_HUMAN Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA. 282 microtubule|microtubule associated complex structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 104 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) GTTTCAATATGCTCATCAATG 0.502000 12 121 0 0 1 0 0 RPL13AP20 387841 broad.mit.edu 37 12 13028524 13028524 + Missense_Mutation SNP G G A TCGA-FY-A3ON-01A-11D-A21Z-08 TCGA-FY-A3ON-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2b661b1c-472f-4911-83b6-ebf16248fe8f f0119845-2a2b-4d0d-9f2e-24264ef9121c g.chr12:13028524G>A uc010sho.2 + 0 114 c.92G>A c.(91-93)cGg>cAg p.R31Q Homo sapiens ribosomal protein L13a pseudogene 20 (RPL13AP20), non-coding RNA. CTGCTGGGCCGGAAGGTGGTG 0.557000 3 53 0 0 1 0 0 SUFU 51684 broad.mit.edu 37 10 104353429 104353429 + Nonsense_Mutation SNP C C T TCGA-FY-A3ON-01A-11D-A21Z-08 TCGA-FY-A3ON-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2b661b1c-472f-4911-83b6-ebf16248fe8f f0119845-2a2b-4d0d-9f2e-24264ef9121c g.chr10:104353429C>T uc001kvy.2 + 4 825 c.634C>T c.(634-636)Cag>Tag p.Q212* SUFU_uc001kvw.2_Nonsense_Mutation_p.Q212*|SUFU_uc001kvx.3_Nonsense_Mutation_p.Q212* NM_016169 NP_057253 Q9UMX1 SUFU_HUMAN Homo sapiens suppressor of fused homolog (Drosophila) (SUFU), transcript variant 1, mRNA. 212 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 p.Q212K(2) 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) ACACTCAGCCCAGCAGTGGAA 0.617000 """D, F, S""" medulloblastoma medulloblastoma Medulloblastoma, associated with Germline SUFU Mutation 18 80 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-FY-A3ON-01A-11D-A21Z-08 TCGA-FY-A3ON-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2b661b1c-472f-4911-83b6-ebf16248fe8f f0119845-2a2b-4d0d-9f2e-24264ef9121c 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 49 84 0 0 1 0 0 LAMC1 3915 broad.mit.edu 37 1 183111704 183111704 + Missense_Mutation SNP G G A rs79826197 by1000genomes TCGA-FY-A3ON-01A-11D-A21Z-08 TCGA-FY-A3ON-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2b661b1c-472f-4911-83b6-ebf16248fe8f f0119845-2a2b-4d0d-9f2e-24264ef9121c g.chr1:183111704G>A uc001gpy.4 + 27 4866 c.4609G>A c.(4609-4611)Gag>Aag p.E1537K NM_002293 NP_002284 P11047 LAMC1_HUMAN Homo sapiens laminin, gamma 1 (formerly LAMB2) (LAMC1), mRNA. 1537 Domain II and I. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 76 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TAAGCTAAACGAGATTGAAGG 0.448000 3 66 0 0 1 0 0