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 ZKSCAN3 80317 broad.mit.edu 37 6 28333660 28333660 + Missense_Mutation SNP G G T TCGA-EL-A3CV-01A-11D-A19J-08 TCGA-EL-A3CV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1753e9c-29d0-4955-89d2-949cdabd1211 48b6e8f8-3784-4f66-892f-5c294e06c306 g.chr6:28333660G>T uc010jrc.3 + 6 1548 c.1215G>T c.(1213-1215)aaG>aaT p.K405N ZKSCAN3_uc003nle.4_Missense_Mutation_p.K405N|ZKSCAN3_uc003nlf.4_Missense_Mutation_p.K257N NM_001242894 NP_001229823 Q9BRR0 ZKSC3_HUMAN Homo sapiens zinc finger with KRAB and SCAN domains 3 (ZKSCAN3), transcript variant 1, mRNA. 405 positive regulation of transcription, DNA-dependent|viral reproduction nucleus DNA binding|chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1) 21 ACTGTGGGAAGACCTTCAGCC 0.507000 21 60 0 0 1 0 0 CNR1 1268 broad.mit.edu 37 6 88854344 88854344 + Missense_Mutation SNP G G T TCGA-EL-A3CV-01A-11D-A19J-08 TCGA-EL-A3CV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1753e9c-29d0-4955-89d2-949cdabd1211 48b6e8f8-3784-4f66-892f-5c294e06c306 g.chr6:88854344G>T uc010kbz.3 - 1 780 c.650C>A c.(649-651)tCc>tAc p.S217Y CNR1_uc011dzr.2_Missense_Mutation_p.S217Y|CNR1_uc011dzs.2_Missense_Mutation_p.S217Y|CNR1_uc003pmq.4_Missense_Mutation_p.S217Y|CNR1_uc011dzt.2_Missense_Mutation_p.S217Y|CNR1_uc010kca.3_Missense_Mutation_p.S184Y|CNR1_uc021zco.1_Missense_Mutation_p.S217Y NM_016083 NP_057167 P21554 CNR1_HUMAN Homo sapiens cannabinoid receptor 1 (brain) (CNR1), transcript variant 1, mRNA. 217 G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane cannabinoid receptor activity|protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1) 37 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.15) Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155) CCTGTGAATGGATATGTACCT 0.577000 10 40 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36872912 36872912 + Missense_Mutation SNP C C T TCGA-EL-A3CV-01A-11D-A19J-08 TCGA-EL-A3CV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1753e9c-29d0-4955-89d2-949cdabd1211 48b6e8f8-3784-4f66-892f-5c294e06c306 g.chr3:36872912C>T uc003cgj.3 - 20 8278 c.8030G>A c.(8029-8031)cGg>cAg p.R2677Q NM_014831 NP_055646 O15050 TRNK1_HUMAN Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA. 2677 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 CCTCAACTTCCGCTGTATGGA 0.577000 5 12 0 0 1 0 0 ZBTB24 9841 broad.mit.edu 37 6 109787075 109787075 + Silent SNP T T A TCGA-EL-A3CV-01A-11D-A19J-08 TCGA-EL-A3CV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1753e9c-29d0-4955-89d2-949cdabd1211 48b6e8f8-3784-4f66-892f-5c294e06c306 g.chr6:109787075T>A uc003ptl.1 - 6 2241 c.2073A>T c.(2071-2073)ccA>ccT p.P691P MICAL1_uc011eaq.2_5'UTR|ZBTB24_uc011ear.1_Non-coding_Transcript|ZBTB24_uc010kds.1_Silent_p.P635P|ZBTB24_uc010kdt.1_Non-coding_Transcript NM_014797 NP_055612 O43167 ZBT24_HUMAN Homo sapiens zinc finger and BTB domain containing 24 (ZBTB24), transcript variant 1, mRNA. 691 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 22 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059) CCTGGCCAAGTGGCGTTGGCT 0.537000 12 46 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EL-A3CV-01A-11D-A19J-08 TCGA-EL-A3CV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1753e9c-29d0-4955-89d2-949cdabd1211 48b6e8f8-3784-4f66-892f-5c294e06c306 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 12 56 0 0 1 0 0 SCN3A 6328 broad.mit.edu 37 2 166027021 166027021 + Missense_Mutation SNP C C T TCGA-EL-A3CV-01A-11D-A19J-08 TCGA-EL-A3CV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1753e9c-29d0-4955-89d2-949cdabd1211 48b6e8f8-3784-4f66-892f-5c294e06c306 g.chr2:166027021C>T uc002ucx.3 - 3 794 c.302G>A c.(301-303)cGa>cAa p.R101Q SCN3A_uc002ucy.3_Missense_Mutation_p.R101Q|SCN3A_uc002ucz.3_Missense_Mutation_p.R101Q|SCN3A_uc002uda.1_5'Flank|SCN3A_uc002udb.1_5'Flank NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA. 101 voltage-gated sodium channel complex voltage-gated sodium channel activity p.R101L(3) NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) GGCACTGAATCGGAAAATTGC 0.308000 6 40 0 0 1 0 0 PTCD2 79810 broad.mit.edu 37 5 71638813 71638813 + Missense_Mutation SNP A A G TCGA-EL-A3CV-01A-11D-A19J-08 TCGA-EL-A3CV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1753e9c-29d0-4955-89d2-949cdabd1211 48b6e8f8-3784-4f66-892f-5c294e06c306 g.chr5:71638813A>G uc003kcb.3 + 7 788 c.778A>G c.(778-780)Att>Gtt p.I260V PTCD2_uc011csf.1_Missense_Mutation_p.I70V|PTCD2_uc003kcc.3_Missense_Mutation_p.I108V|PTCD2_uc011csg.2_Missense_Mutation_p.I88V|PTCD2_uc011csh.2_Missense_Mutation_p.I151V|PTCD2_uc003kcd.3_Non-coding_Transcript NM_024754 NP_079030 Q8WV60 PTCD2_HUMAN Homo sapiens pentatricopeptide repeat domain 2 (PTCD2), mRNA. 260 breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1) 11 Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.73e-53) AGCTGTGTCCATTTTTTCTCA 0.313000 14 39 0 0 1 0 0 ATP2C2 9914 broad.mit.edu 37 16 84438697 84438697 + Silent SNP G G A rs146604607 by1000genomes TCGA-EL-A3CV-01A-11D-A19J-08 TCGA-EL-A3CV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1753e9c-29d0-4955-89d2-949cdabd1211 48b6e8f8-3784-4f66-892f-5c294e06c306 g.chr16:84438697G>A uc002fhy.3 + 0 665 c.225G>A c.(223-225)gcG>gcA p.A75A ATP2C2_uc002fhx.3_Intron|ATP2C2_uc010chj.3_Intron|ATP2C2_uc002fhz.3_5'Flank NM_014861 NP_055676 O75185 AT2C2_HUMAN Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA. 0 ATP biosynthetic process Golgi membrane|integral to membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1) 33 TCCTTGCTGCGCCCATGAGTG 0.612000 3 38 0 0 1 0 0 CHCHD10 400916 broad.mit.edu 37 22 24109618 24109618 + Silent SNP G G A TCGA-EL-A3CV-01A-11D-A19J-08 TCGA-EL-A3CV-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1753e9c-29d0-4955-89d2-949cdabd1211 48b6e8f8-3784-4f66-892f-5c294e06c306 g.chr22:24109618G>A uc002zxw.3 - 1 284 c.204C>T c.(202-204)gcC>gcT p.A68A NM_213720 NP_998885 Q8WYQ3 CHC10_HUMAN Homo sapiens coiled-coil-helix-coiled-coil-helix domain containing 10 (CHCHD10), mRNA. 68 mitochondrion large_intestine(2)|lung(1) 3 CTCCGGTCAGGGCGCTGCCCA 0.692000 2 3 0 0 1 0 0