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 MYO15A 51168 broad.mit.edu 37 17 18057452 18057452 + Missense_Mutation SNP A A G TCGA-DJ-A13T-01A-11D-A10S-08 TCGA-DJ-A13T-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8acbdbd-68b9-4fb3-97c8-90b290a1f098 8f7b0d92-d0ba-4881-a695-6fb6fed6d455 g.chr17:18057452A>G uc021trm.1 + 42 8315 c.8096A>G c.(8095-8097)tAc>tGc p.Y2699C MYO15A_uc021trl.1_Missense_Mutation_p.Y2697C|MYO15A_uc010vxi.2_5'UTR|MYO15A_uc010vxj.1_5'UTR|MYO15A_uc010vxk.1_5'UTR NM_016239 NP_057323 Q9UKN7 MYO15_HUMAN Homo sapiens myosin XVA (MYO15A), mRNA. 2699 Tail. sensory perception of sound cytoplasm|myosin complex|stereocilium ATP binding|actin binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) CAGGTGTTTTACCCCAAGGAC 0.637000 4 108 0 0 1 0 0 MAGEB6 158809 broad.mit.edu 37 X 26212809 26212809 + Silent SNP G G A TCGA-DJ-A13T-01A-11D-A10S-08 TCGA-DJ-A13T-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8acbdbd-68b9-4fb3-97c8-90b290a1f098 8f7b0d92-d0ba-4881-a695-6fb6fed6d455 g.chrX:26212809G>A uc004dbr.3 + 1 995 c.846G>A c.(844-846)ctG>ctA p.L282L MAGEB6_uc022buc.1_Silent_p.L282L NM_173523 NP_775794 Q8N7X4 MAGB6_HUMAN Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA. 282 MAGE. breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2) 33 ATAATGCGCTGCCGAAGTCGG 0.542000 8 250 0 0 1 0 0 BCL9 607 broad.mit.edu 37 1 147091712 147091712 + Missense_Mutation SNP G G T TCGA-DJ-A13T-01A-11D-A10S-08 TCGA-DJ-A13T-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8acbdbd-68b9-4fb3-97c8-90b290a1f098 8f7b0d92-d0ba-4881-a695-6fb6fed6d455 g.chr1:147091712G>T uc001epq.3 + 7 2491 c.1751G>T c.(1750-1752)aGa>aTa p.R584I BCL9_uc010ozr.1_Missense_Mutation_p.R510I NM_004326 NP_004317 O00512 BCL9_HUMAN Homo sapiens B-cell CLL/lymphoma 9 (BCL9), mRNA. 584 Pro-rich. Wnt receptor signaling pathway nucleus protein binding breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 7 all_hematologic(923;0.115) CCTGCATCTAGACCAGGTCTT 0.552000 T """IGH@, IGL@""" B-ALL 6 213 0 0 1 0 0 HPD 3242 broad.mit.edu 37 12 122292689 122292689 + Missense_Mutation SNP C C T TCGA-DJ-A13T-01A-11D-A10S-08 TCGA-DJ-A13T-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8acbdbd-68b9-4fb3-97c8-90b290a1f098 8f7b0d92-d0ba-4881-a695-6fb6fed6d455 g.chr12:122292689C>T uc001ubj.3 - 6 374 c.334G>A c.(334-336)Gaa>Aaa p.E112K HPD_uc001ubk.3_Missense_Mutation_p.E73K NM_002150 NP_001165464 P32754 HPPD_HUMAN Homo sapiens 4-hydroxyphenylpyruvate dioxygenase (HPD), transcript variant 1, mRNA. 112 L-phenylalanine catabolic process|tyrosine catabolic process cytosol 4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1) 18 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225) Nitisinone(DB00348) GCGCCCCGTTCCCGTGCTTTC 0.597000 55 65 0 0 1 0 0 FCER2 2208 broad.mit.edu 37 19 7754305 7754305 + Missense_Mutation SNP G G A TCGA-DJ-A13T-01A-11D-A10S-08 TCGA-DJ-A13T-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8acbdbd-68b9-4fb3-97c8-90b290a1f098 8f7b0d92-d0ba-4881-a695-6fb6fed6d455 g.chr19:7754305G>A uc002mhn.3 - 10 957 c.740C>T c.(739-741)cCa>cTa p.P247L FCER2_uc021unx.1_Missense_Mutation_p.P246L|FCER2_uc002mhm.2_Missense_Mutation_p.P247L|FCER2_uc010xjt.2_Missense_Mutation_p.P169L NM_001220500 NP_001207429 P06734 FCER2_HUMAN Homo sapiens Fc fragment of IgE, low affinity II, receptor for (CD23) (FCER2), transcript variant 3, mRNA. 247 C-type lectin. positive regulation of killing of cells of other organism|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of nitric-oxide synthase activity extracellular region|integral to plasma membrane IgE binding|integrin binding|receptor activity|sugar binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1) 10 GGGCTCCCCTGGAGCCCAGTT 0.677000 10 7 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A13T-01A-11D-A10S-08 TCGA-DJ-A13T-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8acbdbd-68b9-4fb3-97c8-90b290a1f098 8f7b0d92-d0ba-4881-a695-6fb6fed6d455 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 42 79 0 0 1 0 0 C11orf63 79864 broad.mit.edu 37 11 122774973 122774973 + Missense_Mutation SNP G G T TCGA-DJ-A13T-01A-11D-A10S-08 TCGA-DJ-A13T-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8acbdbd-68b9-4fb3-97c8-90b290a1f098 8f7b0d92-d0ba-4881-a695-6fb6fed6d455 g.chr11:122774973G>T uc001pym.3 + 2 982 c.685G>T c.(685-687)Gtg>Ttg p.V229L C11orf63_uc001pyl.1_Missense_Mutation_p.V229L NM_024806 NP_079082 Q6NUN7 CK063_HUMAN Homo sapiens chromosome 11 open reading frame 63 (C11orf63), transcript variant 1, mRNA. 229 breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 47 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311) TTCTCCGTACGTGAAGAGCTC 0.512000 5 181 0 0 1 0 0 SLITRK1 114798 broad.mit.edu 37 13 84453858 84453858 + Silent SNP G G A TCGA-DJ-A13T-01A-11D-A10S-08 TCGA-DJ-A13T-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8acbdbd-68b9-4fb3-97c8-90b290a1f098 8f7b0d92-d0ba-4881-a695-6fb6fed6d455 g.chr13:84453858G>A uc001vlk.3 - 0 2671 c.1785C>T c.(1783-1785)aaC>aaT p.N595N NM_052910 NP_443142 Q96PX8 SLIK1_HUMAN Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA. 595 integral to membrane NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) ACCCAGTGCTGTTTTTACTGT 0.542000 4 62 0 0 1 0 0 NUMA1 4926 broad.mit.edu 37 11 71734181 71734181 + Missense_Mutation SNP T T C rs140051813 byFrequency TCGA-DJ-A13T-01A-11D-A10S-08 TCGA-DJ-A13T-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8acbdbd-68b9-4fb3-97c8-90b290a1f098 8f7b0d92-d0ba-4881-a695-6fb6fed6d455 g.chr11:71734181T>C uc001orl.1 - 5 393 c.221A>G c.(220-222)cAt>cGt p.H74R NUMA1_uc001ork.1_Missense_Mutation_p.H74R|NUMA1_uc001orm.1_Missense_Mutation_p.H74R|NUMA1_uc009ysx.1_Missense_Mutation_p.H74R|NUMA1_uc001oro.1_Missense_Mutation_p.H74R|NUMA1_uc009ysy.2_Missense_Mutation_p.H74R|NUMA1_uc001orp.3_Missense_Mutation_p.H74R|NUMA1_uc001orq.3_Missense_Mutation_p.H74R|NUMA1_uc021qmw.1_Missense_Mutation_p.H74R NM_006185 NP_006176 Q14980 NUMA1_HUMAN Homo sapiens nuclear mitotic apparatus protein 1 (NUMA1), mRNA. 74 G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 65 GGAAGAGGGATGTTTTCGATT 0.493000 T RARA APL 63 97 0 0 1 0 0 SLC38A4 55089 broad.mit.edu 37 12 47168909 47168909 + Missense_Mutation SNP A A T TCGA-DJ-A13T-01A-11D-A10S-08 TCGA-DJ-A13T-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8acbdbd-68b9-4fb3-97c8-90b290a1f098 8f7b0d92-d0ba-4881-a695-6fb6fed6d455 g.chr12:47168909A>T uc001rpi.2 - 13 1621 c.1222T>A c.(1222-1224)Tta>Ata p.L408I SLC38A4_uc001rpj.2_Missense_Mutation_p.L408I NM_018018 NP_060488 Q969I6 S38A4_HUMAN Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA. 408 cellular nitrogen compound metabolic process|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 21 Lung SC(27;0.192)|Renal(347;0.236) GGGATGTCTAATGTATACACT 0.438000 60 95 0 0 1 0 0 ZNF607 84775 broad.mit.edu 37 19 38190685 38190685 + Missense_Mutation SNP C C A TCGA-DJ-A13T-01A-11D-A10S-08 TCGA-DJ-A13T-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8acbdbd-68b9-4fb3-97c8-90b290a1f098 8f7b0d92-d0ba-4881-a695-6fb6fed6d455 g.chr19:38190685C>A uc002ohc.2 - 4 943 c.347G>T c.(346-348)tGt>tTt p.C116F ZNF607_uc002ohb.2_Missense_Mutation_p.C115F NM_032689 NP_116078 Q96SK3 ZN607_HUMAN Homo sapiens zinc finger protein 607 (ZNF607), transcript variant 1, mRNA. 116 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1) 27 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775) ACATTGCTTACACTCATATGG 0.368000 88 132 0 0 1 0 0 NLRP1 22861 broad.mit.edu 37 17 5487102 5487102 + Missense_Mutation SNP G G A TCGA-DJ-A13T-01A-11D-A10S-08 TCGA-DJ-A13T-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8acbdbd-68b9-4fb3-97c8-90b290a1f098 8f7b0d92-d0ba-4881-a695-6fb6fed6d455 g.chr17:5487102G>A uc002gci.3 - 0 731 c.176C>T c.(175-177)gCt>gTt p.A59V NLRP1_uc002gcg.1_Missense_Mutation_p.A59V|NLRP1_uc002gch.4_Missense_Mutation_p.A59V|NLRP1_uc002gck.3_Missense_Mutation_p.A59V|NLRP1_uc002gcj.3_Missense_Mutation_p.A59V|NLRP1_uc002gcl.3_Missense_Mutation_p.A59V|NLRP1_uc010clh.3_Missense_Mutation_p.A59V NM_033004 NP_127497 Q9C000 NALP1_HUMAN Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA. 59 DAPIN. defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide NALP1 inflammasome complex|cytoplasm|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Colorectal(1115;3.48e-05) CCCATACTGAGCCACCAGGTA 0.637000 2 6 0 0 1 0 0