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 PEX5 5830 broad.mit.edu 37 12 7343014 7343014 + Missense_Mutation SNP C C G TCGA-MK-A4N9-01A-11D-A257-08 TCGA-MK-A4N9-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0046319-9ff3-4b37-9669-8efc39b4e1c7 a7a96497-5517-42bf-b9a7-b3a6ccfe0d46 g.chr12:7343014C>G uc010sgd.2 + 1 193 c.104C>G c.(103-105)gCc>gGc p.A35G PEX5_uc009zfu.2_Missense_Mutation_p.A14G|PEX5_uc001qsw.3_Missense_Mutation_p.A14G|PEX5_uc010sgc.2_Missense_Mutation_p.A14G|PEX5_uc001qsu.3_Missense_Mutation_p.A14G|PEX5_uc001qsv.3_Missense_Mutation_p.A14G NM_001131026 NP_001124498 P50542 PEX5_HUMAN Homo sapiens peroxisomal biogenesis factor 5 (PEX5), transcript variant 5, mRNA. 14 protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport cytosol|peroxisomal matrix|peroxisomal membrane peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1) 21 TGCGGGGGTGCCAACCCGCTC 0.667000 5 141 0 0 1 0 0 NTN4 59277 broad.mit.edu 37 12 96180969 96180969 + Missense_Mutation SNP A A C TCGA-MK-A4N9-01A-11D-A257-08 TCGA-MK-A4N9-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0046319-9ff3-4b37-9669-8efc39b4e1c7 a7a96497-5517-42bf-b9a7-b3a6ccfe0d46 g.chr12:96180969A>C uc001tei.3 - 1 782 c.333T>G c.(331-333)gaT>gaG p.D111E NTN4_uc009ztf.3_Missense_Mutation_p.D111E|NTN4_uc009ztg.3_Missense_Mutation_p.D74E NM_021229 NP_067052 Q9HB63 NET4_HUMAN Homo sapiens netrin 4 (NTN4), mRNA. 111 Laminin N-terminal. axon guidance basement membrane|plasma membrane NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 25 CTCTGTGCACATCCTCCGCAG 0.542000 4 70 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 4494931 4494931 + Missense_Mutation SNP G G C TCGA-MK-A4N9-01A-11D-A257-08 TCGA-MK-A4N9-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0046319-9ff3-4b37-9669-8efc39b4e1c7 a7a96497-5517-42bf-b9a7-b3a6ccfe0d46 g.chr8:4494931G>C uc022aqr.1 - 1 625 c.235C>G c.(235-237)Ctt>Gtt p.L79V NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA. 79 CUB 1. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TCTTCTTCAAGAGCAAAGGTA 0.423000 4 84 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-MK-A4N9-01A-11D-A257-08 TCGA-MK-A4N9-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0046319-9ff3-4b37-9669-8efc39b4e1c7 a7a96497-5517-42bf-b9a7-b3a6ccfe0d46 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 10 17 0 0 1 0 0 TGFBI 7045 broad.mit.edu 37 5 135389735 135389735 + Silent SNP G G A TCGA-MK-A4N9-01A-11D-A257-08 TCGA-MK-A4N9-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0046319-9ff3-4b37-9669-8efc39b4e1c7 a7a96497-5517-42bf-b9a7-b3a6ccfe0d46 g.chr5:135389735G>A uc003lbf.4 + 8 1391 c.1230G>A c.(1228-1230)ttG>ttA p.L410L TGFBI_uc003lbg.4_Silent_p.L143L|TGFBI_uc003lbh.4_Silent_p.L236L|TGFBI_uc011cyb.2_Silent_p.L236L NM_000358 NP_000349 Q15582 BGH3_HUMAN Homo sapiens transforming growth factor, beta-induced, 68kDa (TGFBI), mRNA. 410 FAS1 3. angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception extracellular space|proteinaceous extracellular matrix integrin binding breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GTGAGCGGTTGACCCTCCTGG 0.532000 15 90 0 0 1 0 0 RSPH6A 81492 broad.mit.edu 37 19 46308064 46308064 + Missense_Mutation SNP C C T TCGA-MK-A4N9-01A-11D-A257-08 TCGA-MK-A4N9-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0046319-9ff3-4b37-9669-8efc39b4e1c7 a7a96497-5517-42bf-b9a7-b3a6ccfe0d46 g.chr19:46308064C>T uc002pdm.3 - 2 1270 c.1099G>A c.(1099-1101)Gag>Aag p.E367K RSPH6A_uc002pdl.3_Missense_Mutation_p.E103K NM_030785 NP_110412 Q9H0K4 RSH6A_HUMAN Homo sapiens radial spoke head 6 homolog A (Chlamydomonas) (RSPH6A), mRNA. 367 Glu-rich. intracellular central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 32 tctgcctcctcctcgccctcc 0.652000 12 56 0 0 1 0 0