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 GRIA3 2892 broad.mit.edu 37 X 122616871 122616871 + Silent SNP T T C TCGA-DO-A1K0-01A-11D-A13W-08 TCGA-DO-A1K0-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 459aa6ca-af9e-4686-951f-36a18e00524a 0c694145-ea2a-4b7c-949b-6aea0149a530 g.chrX:122616871T>C uc004etq.4 + 14 2953 c.2661T>C c.(2659-2661)taT>taC p.Y887Y GRIA3_uc004etr.4_Silent_p.Y887Y|GRIA3_uc004ets.4_Non-coding_Transcript NM_007325 NP_015564 P42263 GRIA3_HUMAN Homo sapiens glutamate receptor, ionotrophic, AMPA 3 (GRIA3), transcript variant 1, mRNA. 887 glutamate signaling pathway|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 57 L-Glutamic Acid(DB00142) ACAACGTGTATGGAACAGAGA 0.383000 10 120 0 0 1 0 0 OR2T33 391195 broad.mit.edu 37 1 248437065 248437065 + Missense_Mutation SNP G G T TCGA-DO-A1K0-01A-11D-A13W-08 TCGA-DO-A1K0-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 459aa6ca-af9e-4686-951f-36a18e00524a 0c694145-ea2a-4b7c-949b-6aea0149a530 g.chr1:248437065G>T uc010pzi.2 - 0 52 c.52C>A c.(52-54)Cac>Aac p.H18N NM_001004695 NP_001004695 Q8NG76 O2T33_HUMAN Homo sapiens olfactory receptor, family 2, subfamily T, member 33 (OR2T33), mRNA. 18 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4) 67 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) GCTCTGGTGTGGTTAAAGAGT 0.448000 14 100 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DO-A1K0-01A-11D-A13W-08 TCGA-DO-A1K0-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 459aa6ca-af9e-4686-951f-36a18e00524a 0c694145-ea2a-4b7c-949b-6aea0149a530 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 41 44 0 0 1 0 0 ARID2 196528 broad.mit.edu 37 12 46125035 46125035 + Silent SNP A A G TCGA-DO-A1K0-01A-11D-A13W-08 TCGA-DO-A1K0-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 459aa6ca-af9e-4686-951f-36a18e00524a 0c694145-ea2a-4b7c-949b-6aea0149a530 g.chr12:46125035A>G uc001ros.1 + 2 222 c.222A>G c.(220-222)gaA>gaG p.E74E ARID2_uc001ror.3_Silent_p.E74E NM_152641 NP_689854 Q68CP9 ARID2_HUMAN Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA. 74 ARID. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding p.E74*(1) NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) AAATTGTTGAAGAGTTCAACT 0.373000 """N, S, F""" hepatocellular carcinoma 4 102 0 0 1 0 0 ZP1 22917 broad.mit.edu 37 11 60636685 60636685 + Silent SNP G G A TCGA-DO-A1K0-01A-11D-A13W-08 TCGA-DO-A1K0-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 459aa6ca-af9e-4686-951f-36a18e00524a 0c694145-ea2a-4b7c-949b-6aea0149a530 g.chr11:60636685G>A uc001nqd.3 + 1 284 c.264G>A c.(262-264)ccG>ccA p.P88P ZP1_uc001nqe.3_5'Flank NM_207341 NP_997224 P60852 ZP1_HUMAN Homo sapiens zona pellucida glycoprotein 1 (sperm receptor) (ZP1), mRNA. 88 single fertilization integral to membrane|plasma membrane|proteinaceous extracellular matrix breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 26 CCTCCAGGCCGCAGGAGCCTG 0.582000 3 22 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72831869 72831869 + Missense_Mutation SNP T T C TCGA-DO-A1K0-01A-11D-A13W-08 TCGA-DO-A1K0-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 459aa6ca-af9e-4686-951f-36a18e00524a 0c694145-ea2a-4b7c-949b-6aea0149a530 g.chr16:72831869T>C uc002fck.3 - 8 5385 c.4712A>G c.(4711-4713)cAt>cGt p.H1571R ZFHX3_uc002fcl.3_Missense_Mutation_p.H657R NM_006885 NP_008816 Q15911 ZFHX3_HUMAN Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA. 1571 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) CTTTAACTTATGCAGGTGGGA 0.463000 48 53 0 0 1 0 0 PRDM15 63977 broad.mit.edu 37 21 43243760 43243760 + Missense_Mutation SNP C C T TCGA-DO-A1K0-01A-11D-A13W-08 TCGA-DO-A1K0-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 459aa6ca-af9e-4686-951f-36a18e00524a 0c694145-ea2a-4b7c-949b-6aea0149a530 g.chr21:43243760C>T uc002yzq.1 - 20 2884 c.2773G>A c.(2773-2775)Ggc>Agc p.G925S PRDM15_uc002yzo.3_Missense_Mutation_p.G596S|PRDM15_uc002yzp.3_Missense_Mutation_p.G616S|PRDM15_uc002yzr.1_Missense_Mutation_p.G616S NM_022115 NP_071398 P57071 PRD15_HUMAN Homo sapiens PR domain containing 15 (PRDM15), transcript variant 1, mRNA. 925 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1) 43 TTCTTGTCGCCGTGGGTGAGC 0.607000 2 0 0 0 1 0 0 FAM78A 286336 broad.mit.edu 37 9 134136508 134136508 + Missense_Mutation SNP G G A TCGA-DO-A1K0-01A-11D-A13W-08 TCGA-DO-A1K0-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 459aa6ca-af9e-4686-951f-36a18e00524a 0c694145-ea2a-4b7c-949b-6aea0149a530 g.chr9:134136508G>A uc004cak.3 - 1 893 c.553C>T c.(553-555)Cgg>Tgg p.R185W FAM78A_uc004caj.3_Missense_Mutation_p.R182W NM_033387 NP_203745 Q5JUQ0 FA78A_HUMAN Homo sapiens family with sequence similarity 78, member A (FAM78A), mRNA. 185 p.R185W(2) NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1) 9 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267) CTCTGGTCCCGGTAGATATTG 0.572000 39 46 0 0 1 0 0 GBF1 8729 broad.mit.edu 37 10 104125331 104125332 + Frame_Shift_Ins INS - - T rs141624228 TCGA-DO-A1K0-01A-11D-A13W-08 TCGA-DO-A1K0-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 459aa6ca-af9e-4686-951f-36a18e00524a 0c694145-ea2a-4b7c-949b-6aea0149a530 g.chr10:104125331_104125332insT uc001kux.2 + 17 2575_2576 c.2281_2282insT c.(2281-2283)attfs p.I761fs GBF1_uc001kuy.2_Frame_Shift_Ins_p.I761fs|GBF1_uc001kuz.2_Frame_Shift_Ins_p.I762fs NM_004193 NP_004184 Q92538 GBF1_HUMAN Homo sapiens golgi brefeldin A resistant guanine nucleotide exchange factor 1 (GBF1), transcript variant 1, mRNA. 761 SEC7. COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane ARF guanyl-nucleotide exchange factor activity|protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 Colorectal(252;0.0236) Epithelial(162;5.16e-08)|all cancers(201;1.19e-06) CCGCAAAAACATTGACCTGTTG 0.505 60 64 --- --- --- ---