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 RCC1 1104 broad.mit.edu 37 1 28863397 28863397 + Missense_Mutation SNP C C T TCGA-FE-A237-01A-11D-A16O-08 TCGA-FE-A237-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54b53361-ddd7-414b-9994-bc6c988a0840 27780227-aefb-43bc-b57a-a2d7298bb0a2 g.chr1:28863397C>T uc001bqf.2 + 9 1254 c.1169C>T c.(1168-1170)gCt>gTt p.A390V RCC1_uc001bqb.2_Missense_Mutation_p.A359V|RCC1_uc001bqa.2_Missense_Mutation_p.A359V|RCC1_uc001bqc.2_Missense_Mutation_p.A359V|RCC1_uc001bqe.2_Missense_Mutation_p.A376V|RCC1_uc001bqg.2_Missense_Mutation_p.A359V NM_001048194 NP_001041659 P18754 RCC1_HUMAN Homo sapiens regulator of chromosome condensation 1 (RCC1), transcript variant 1, mRNA. 359 G1/S transition of mitotic cell cycle|cell division|chromosome segregation|mitosis|mitotic spindle organization|regulation of S phase of mitotic cell cycle|regulation of mitosis|spindle assembly|viral reproduction condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm Ran guanyl-nucleotide exchange factor activity|histone binding|nucleosomal DNA binding breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1) 14 Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123) Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649) GTGGGGTATGCTGTGACCAAG 0.587000 4 192 0 0 1 0 0 CD200R1 131450 broad.mit.edu 37 3 112644003 112644004 + Missense_Mutation DNP TG TG AA TCGA-FE-A237-01A-11D-A16O-08 TCGA-FE-A237-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54b53361-ddd7-414b-9994-bc6c988a0840 27780227-aefb-43bc-b57a-a2d7298bb0a2 g.chr3:112644003_112644004TG>AA uc003dzj.1 - 5 1039_1040 c.806_807CA>TT c.(805-807)cca>cTT p.P269L CD200R1_uc003dzk.1_Missense_Mutation_p.P246L|CD200R1_uc011bhx.1_Intron NM_138806 NP_620161 Q8TD46 MO2R1_HUMAN Homo sapiens CD200 receptor 1 (CD200R1), transcript variant 1, mRNA. 246 interspecies interaction between organisms|regulation of immune response extracellular region|integral to membrane|plasma membrane receptor activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 26 GGATGATATATGGAATATATAA 0.297000 5 62 0 0 1 0 0 TSC22D3 1831 broad.mit.edu 37 X 107018377 107018377 + Silent SNP G G A TCGA-FE-A237-01A-11D-A16O-08 TCGA-FE-A237-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54b53361-ddd7-414b-9994-bc6c988a0840 27780227-aefb-43bc-b57a-a2d7298bb0a2 g.chrX:107018377G>A uc004enh.3 - 0 641 c.273C>T c.(271-273)aaC>aaT p.N91N TSC22D3_uc004eni.3_Silent_p.N91N|TSC22D3_uc004enj.3_Silent_p.N91N NM_198057 NP_932174 Q99576 T22D3_HUMAN Homo sapiens TSC22 domain family, member 3 (TSC22D3), transcript variant 1, mRNA. 0 Leucine-zipper. sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(2)|lung(3) 6 CGATGTTGCGGTTGCAGATGC 0.597000 4 107 0 0 1 0 0 ZNF502 91392 broad.mit.edu 37 3 44763193 44763193 + Missense_Mutation SNP A A G TCGA-FE-A237-01A-11D-A16O-08 TCGA-FE-A237-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54b53361-ddd7-414b-9994-bc6c988a0840 27780227-aefb-43bc-b57a-a2d7298bb0a2 g.chr3:44763193A>G uc011baa.2 + 3 1139 c.884A>G c.(883-885)tAc>tGc p.Y295C ZNF502_uc003cns.3_Missense_Mutation_p.Y295C|ZNF502_uc011bab.2_Missense_Mutation_p.Y295C|ZNF502_uc003cnt.3_Missense_Mutation_p.Y295C NM_001134440 NP_149987 Q8TBZ5 ZN502_HUMAN Homo sapiens zinc finger protein 502 (ZNF502), transcript variant 2, mRNA. 295 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589) GAGAAGCCTTACATATGCAGT 0.398000 7 330 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-FE-A237-01A-11D-A16O-08 TCGA-FE-A237-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54b53361-ddd7-414b-9994-bc6c988a0840 27780227-aefb-43bc-b57a-a2d7298bb0a2 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 27 51 0 0 1 0 0 PSG8 440533 broad.mit.edu 37 19 43259223 43259223 + Missense_Mutation SNP C C G TCGA-FE-A237-01A-11D-A16O-08 TCGA-FE-A237-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54b53361-ddd7-414b-9994-bc6c988a0840 27780227-aefb-43bc-b57a-a2d7298bb0a2 g.chr19:43259223C>G uc002ouo.2 - 3 1003 c.905G>C c.(904-906)aGa>aCa p.R302T PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc010eim.3_Intron|PSG8_uc002ouh.3_Missense_Mutation_p.R302T|PSG8_uc010ein.3_Missense_Mutation_p.R180T|PSG3_uc002oun.3_Intron NM_182707 NP_874366 Q9UQ74 PSG8_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA. 302 Ig-like C2-type 2. extracellular region breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40 Prostate(69;0.00899) TGTTTCATTTCTCGTGACACT 0.478000 22 210 0 0 1 0 0 ZNF451 26036 broad.mit.edu 37 6 57012664 57012664 + Missense_Mutation SNP A A G TCGA-FE-A237-01A-11D-A16O-08 TCGA-FE-A237-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54b53361-ddd7-414b-9994-bc6c988a0840 27780227-aefb-43bc-b57a-a2d7298bb0a2 g.chr6:57012664A>G uc003pdm.1 + 9 2005 c.1781A>G c.(1780-1782)gAt>gGt p.D594G ZNF451_uc003pdl.3_Missense_Mutation_p.D594G|ZNF451_uc003pdn.1_Missense_Mutation_p.D594G|BC032020_uc003pdq.1_Intron|ZNF451_uc003pdk.1_Missense_Mutation_p.D594G NM_001031623 NP_001026794 Q9Y4E5 ZN451_HUMAN Homo sapiens zinc finger protein 451 (ZNF451), transcript variant 1, mRNA. 594 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 Lung NSC(77;0.145) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) ACTGTTATTGATCATTCCCCG 0.408000 3 73 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7667276 7667276 + Missense_Mutation SNP G G A TCGA-FE-A237-01A-11D-A16O-08 TCGA-FE-A237-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54b53361-ddd7-414b-9994-bc6c988a0840 27780227-aefb-43bc-b57a-a2d7298bb0a2 g.chr17:7667276G>A uc002giu.1 + 17 3120 c.3106G>A c.(3106-3108)Gcg>Acg p.A1036T NM_020877 NP_065928 Q9P225 DYH2_HUMAN Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA. 1036 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) GAACAAGTTCGCGACTCTGCT 0.592000 5 48 0 0 1 0 0 CRIPAK 285464 broad.mit.edu 37 4 1389546 1389546 + Missense_Mutation SNP A A G TCGA-FE-A237-01A-11D-A16O-08 TCGA-FE-A237-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 54b53361-ddd7-414b-9994-bc6c988a0840 27780227-aefb-43bc-b57a-a2d7298bb0a2 g.chr4:1389546A>G uc003gdf.2 + 0 4207 c.1247A>G c.(1246-1248)gAc>gGc p.D416G NM_175918 NP_787114 Q8N1N5 CRPAK_HUMAN Homo sapiens cysteine-rich PAK1 inhibitor (CRIPAK), mRNA. 416 Interaction with PAK1. ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(23;0.0106) GCCGAGTCAGACGCTGTTACC 0.502000 3 95 0 0 1 0 0