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 PCDHGC5 56097 broad.mit.edu 37 5 140750149 140750149 + Missense_Mutation SNP C C T TCGA-FE-A3PB-01A-11D-A21Z-08 TCGA-FE-A3PB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7c8abdf-02bc-455f-9e43-f49227b349b2 60e3b235-1934-460a-b420-b02c1f4a3acd g.chr5:140750149C>T uc003ljw.2 + 0 188 c.188C>T c.(187-189)aCt>aTt p.T63I PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc011dat.2_Missense_Mutation_p.T63I NM_018924 NP_061747 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA. 61 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GATTTACCTACTAGGAACCTG 0.547000 49 130 0 0 1 0 0 PRDM13 59336 broad.mit.edu 37 6 100061166 100061166 + Missense_Mutation SNP C C A TCGA-FE-A3PB-01A-11D-A21Z-08 TCGA-FE-A3PB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7c8abdf-02bc-455f-9e43-f49227b349b2 60e3b235-1934-460a-b420-b02c1f4a3acd g.chr6:100061166C>A uc003pqg.1 + 3 916 c.655C>A c.(655-657)Cag>Aag p.Q219K NM_021620 NP_067633 Q9H4Q3 PRD13_HUMAN Homo sapiens PR domain containing 13 (PRDM13), mRNA. 219 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1) 17 all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186) BRCA - Breast invasive adenocarcinoma(108;0.0598) GCCACCAGTTCAGGCCTGCGG 0.711000 2 2 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-FE-A3PB-01A-11D-A21Z-08 TCGA-FE-A3PB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7c8abdf-02bc-455f-9e43-f49227b349b2 60e3b235-1934-460a-b420-b02c1f4a3acd 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 22 53 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51900392 51900392 + Silent SNP G G A TCGA-FE-A3PB-01A-11D-A21Z-08 TCGA-FE-A3PB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7c8abdf-02bc-455f-9e43-f49227b349b2 60e3b235-1934-460a-b420-b02c1f4a3acd g.chr6:51900392G>A uc003pah.1 - 27 3501 c.3225C>T c.(3223-3225)ccC>ccT p.P1075P PKHD1_uc003pai.3_Silent_p.P1075P NM_138694 NP_619639 P08F94 PKHD1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA. 1075 IPT/TIG 5. cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity p.P1074S(1) NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) CACTTACCCTGGGTGGAACTT 0.393000 4 138 0 0 1 0 0 TAS2R7 50837 broad.mit.edu 37 12 10954956 10954956 + Missense_Mutation SNP A A G TCGA-FE-A3PB-01A-11D-A21Z-08 TCGA-FE-A3PB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7c8abdf-02bc-455f-9e43-f49227b349b2 60e3b235-1934-460a-b420-b02c1f4a3acd g.chr12:10954956A>G uc001qyv.3 - 0 271 c.214T>C c.(214-216)Tat>Cat p.Y72H NM_023919 NP_076408 Q9NYW3 TA2R7_HUMAN Homo sapiens taste receptor, type 2, member 7 (TAS2R7), mRNA. 72 sensory perception of taste integral to membrane taste receptor activity kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(3) 10 ACATCTGGATATAGCACCAAT 0.373000 28 51 0 0 1 0 0 LMX1B 4010 broad.mit.edu 37 9 129456049 129456051 + In_Frame_Del DEL CAG CAG - TCGA-FE-A3PB-01A-11D-A21Z-08 TCGA-FE-A3PB-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7c8abdf-02bc-455f-9e43-f49227b349b2 60e3b235-1934-460a-b420-b02c1f4a3acd g.chr9:129456049_129456051delCAG uc011maa.2 + 5 851_853 c.844_846delCAG c.(844-846)cagdel p.Q285del LMX1B_uc004bqi.3_In_Frame_Del_p.Q285del|LMX1B_uc004bqj.3_In_Frame_Del_p.Q285del NM_001174146 NP_001167617 O60663 LMX1B_HUMAN Homo sapiens LIM homeobox transcription factor 1, beta (LMX1B), transcript variant 3, mRNA. 262 dorsal/ventral pattern formation|in utero embryonic development nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 15 GCGGCGGCACCAGCAGCAGCAGG 0.754 Nail-Patella Syndrome 2 4 --- --- --- ---