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 KRTAP5-2 440021 broad.mit.edu 37 11 1619378 1619378 + Missense_Mutation SNP G G A rs138454470 byFrequency TCGA-ET-A3DT-01A-11D-A19J-08 TCGA-ET-A3DT-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71d4fa4b-f805-4b31-957e-defc6913a3c5 79039652-38f5-4155-8ee4-bf4312bde77d g.chr11:1619378G>A ENST00000412090.1 - 1 146 c.103C>T c.(103-105)Cgt>Tgt p.R35C KRTAP5-AS1_ENST00000424148.1_RNA NM_001004325.1 NP_001004325.1 Q701N4 KRA52_HUMAN keratin associated protein 5-2 35 keratin filament large_intestine(1)|lung(2)|skin(1) 4 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) CAGCCCCCACGGCCGGAGCCA 0.687000 5 72 0 0 0.021553 0 0 CTD-2139B15.2 0 broad.mit.edu 37 5 17354234 17354234 + RNA SNP C C T rs2652638 by1000genomes TCGA-ET-A3DT-01A-11D-A19J-08 TCGA-ET-A3DT-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71d4fa4b-f805-4b31-957e-defc6913a3c5 79039652-38f5-4155-8ee4-bf4312bde77d g.chr5:17354234C>T ENST00000511821.1 + 0 101 FTH1P10_ENST00000401830.3_RNA CACACTCCATCGCATTCAGCC 0.468000 6 128 0 0 0.038147 0 0 FOXP2 93986 broad.mit.edu 37 7 114269973 114269973 + Silent SNP A A G rs149757187 TCGA-ET-A3DT-01A-11D-A19J-08 TCGA-ET-A3DT-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71d4fa4b-f805-4b31-957e-defc6913a3c5 79039652-38f5-4155-8ee4-bf4312bde77d g.chr7:114269973A>G ENST00000393500.3 + 11 1105 c.285A>G c.(283-285)caA>caG p.Q95Q FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000378237.3_Silent_p.Q170Q|FOXP2_ENST00000393498.2_Silent_p.Q150Q|FOXP2_ENST00000393491.3_Silent_p.Q78Q|FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000350908.4_Silent_p.Q170Q|FOXP2_ENST00000393494.2_Silent_p.Q170Q|FOXP2_ENST00000393489.3_Silent_p.Q78Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q|AC020606.1_ENST00000580664.1_RNA O15409 FOXP2_HUMAN forkhead box P2 170 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding p.Q195Q(1) breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 agcagcagcaacaacaacaac 0.502000 3 48 0 0 0.004672 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-ET-A3DT-01A-11D-A19J-08 TCGA-ET-A3DT-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71d4fa4b-f805-4b31-957e-defc6913a3c5 79039652-38f5-4155-8ee4-bf4312bde77d g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 5 49 0 0 0.014758 0 0 NCOR1 9611 broad.mit.edu 37 17 15973810 15973810 + Silent SNP T T A TCGA-ET-A3DT-01A-11D-A19J-08 TCGA-ET-A3DT-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71d4fa4b-f805-4b31-957e-defc6913a3c5 79039652-38f5-4155-8ee4-bf4312bde77d g.chr17:15973810T>A ENST00000268712.3 - 31 4439 c.4182A>T c.(4180-4182)tcA>tcT p.S1394S NCOR1_ENST00000395851.1_Silent_p.S1410S|NCOR1_ENST00000395857.3_5'UTR NM_006311.3 NP_006302.2 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 1394 Interaction with ETO. cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) CAGATTGACCTGAGTTGTTGT 0.428000 21 62 0 0 0.069288 0 0 TPTE2P6 0 broad.mit.edu 37 13 25168501 25168501 + RNA SNP G G A rs4770716 by1000genomes TCGA-ET-A3DT-01A-11D-A19J-08 TCGA-ET-A3DT-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71d4fa4b-f805-4b31-957e-defc6913a3c5 79039652-38f5-4155-8ee4-bf4312bde77d g.chr13:25168501G>A ENST00000453498.1 + 0 1173 TTTTCTCTTCGGTGAGTAATC 0.388000 3 31 0 0 0.009096 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22663087 22663087 + RNA SNP A A G rs1054158 TCGA-ET-A3DT-01A-11D-A19J-08 TCGA-ET-A3DT-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71d4fa4b-f805-4b31-957e-defc6913a3c5 79039652-38f5-4155-8ee4-bf4312bde77d g.chr22:22663087A>G ENST00000426066.1 + 0 526 NR_027293.1 GCTGCCACATAAGTTGTCCTT 0.303000 3 26 0 0 0.004672 0 0 PLXNA1 5361 broad.mit.edu 37 3 126707544 126707544 + Silent SNP T T G TCGA-ET-A3DT-01A-11D-A19J-08 TCGA-ET-A3DT-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71d4fa4b-f805-4b31-957e-defc6913a3c5 79039652-38f5-4155-8ee4-bf4312bde77d g.chr3:126707544T>G ENST00000251772.4 + 1 108 c.39T>G c.(37-39)ggT>ggG p.G13G PLXNA1_ENST00000393409.2_Silent_p.G36G Q9UIW2 PLXA1_HUMAN plexin A1 36 axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity p.G13G(4) breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) CAGGCGGGGGTTCACAGCCCC 0.682000 6 14 0 0 0.105934 0 0 GRM2 2912 broad.mit.edu 37 3 51746681 51746681 + Missense_Mutation SNP G G T TCGA-ET-A3DT-01A-11D-A19J-08 TCGA-ET-A3DT-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71d4fa4b-f805-4b31-957e-defc6913a3c5 79039652-38f5-4155-8ee4-bf4312bde77d g.chr3:51746681G>T ENST00000395052.3 + 3 877 c.643G>T c.(643-645)Gac>Tac p.D215Y GRM2_ENST00000475478.1_Intron|GRM2_ENST00000442933.2_Missense_Mutation_p.D215Y NM_000839.3 NP_000830.2 Q14416 GRM2_HUMAN glutamate receptor, metabotropic 2 215 synaptic transmission integral to plasma membrane breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Acamprosate(DB00659)|Nicotine(DB00184) GTCTGAGGGCGACTATGGCGA 0.602000 24 62 6.36457e-07 7.2738e-07 0.091800 1 0 UBAP2 55833 broad.mit.edu 37 9 33948652 33948652 + Translation_Start_Site SNP T T C rs307654 by1000genomes TCGA-ET-A3DT-01A-11D-A19J-08 TCGA-ET-A3DT-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71d4fa4b-f805-4b31-957e-defc6913a3c5 79039652-38f5-4155-8ee4-bf4312bde77d g.chr9:33948652T>C ENST00000379225.1 - 0 312 UBAP2_ENST00000360802.1_Intron|UBAP2_ENST00000379238.1_Intron|UBAP2_ENST00000379239.4_Intron|UBAP2_ENST00000418786.2_Intron|UBAP2_ENST00000449054.1_Intron|UBAP2_ENST00000539807.1_Intron Q5T6F2 UBAP2_HUMAN ubiquitin associated protein 2 endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1) 32 LUSC - Lung squamous cell carcinoma(29;0.00575) GBM - Glioblastoma multiforme(74;0.168) CTTTAAAACATATCAAGTATT 0.303000 3 40 0 0 0.004672 0 0 LSP1 4046 broad.mit.edu 37 11 1907970 1907970 + Silent SNP C C T TCGA-ET-A3DT-01A-11D-A19J-08 TCGA-ET-A3DT-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71d4fa4b-f805-4b31-957e-defc6913a3c5 79039652-38f5-4155-8ee4-bf4312bde77d g.chr11:1907970C>T ENST00000406638.2 + 8 1842 c.540C>T c.(538-540)ggC>ggT p.G180G LSP1_ENST00000485341.1_3'UTR|LSP1_ENST00000405957.2_Silent_p.G180G|LSP1_ENST00000381775.1_Silent_p.G370G|LSP1_ENST00000311604.3_Silent_p.G242G NM_001013254.1|NM_001013255.1 NP_001013272.1|NP_001013273.1 P33241 LSP1_HUMAN lymphocyte-specific protein 1 242 cellular component movement|cellular defense response actin cytoskeleton|Golgi apparatus|plasma membrane actin binding|signal transducer activity haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1) 16 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856) AGACCGCTGGCCGGACCCCCA 0.602000 8 84 0 0 0.038147 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-ET-A3DT-01A-11D-A19J-08 TCGA-ET-A3DT-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71d4fa4b-f805-4b31-957e-defc6913a3c5 79039652-38f5-4155-8ee4-bf4312bde77d g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 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(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(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 14 40 0 0 0.020292 0 0 AKR7L 246181 broad.mit.edu 37 1 19594919 19594921 + RNA DEL AAG AAG - rs138196141 TCGA-ET-A3DT-01A-11D-A19J-08 TCGA-ET-A3DT-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71d4fa4b-f805-4b31-957e-defc6913a3c5 79039652-38f5-4155-8ee4-bf4312bde77d g.chr1:19594919_19594921delAAG ENST00000420396.2 - 0 637 AKR7L_ENST00000429712.1_RNA aldo-keto reductase family 7-like breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1) 6 aaaaaaaaaaaaGACCAGTGGGA 0.419 4 9 --- --- --- --- AC074391.1 0 broad.mit.edu 37 2 65738863 65738863 + RNA DEL G G - TCGA-ET-A3DT-01A-11D-A19J-08 TCGA-ET-A3DT-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71d4fa4b-f805-4b31-957e-defc6913a3c5 79039652-38f5-4155-8ee4-bf4312bde77d g.chr2:65738863delG ENST00000377977.3 + 0 862 TTTTTTTTTTGTCCAGGAGGC 0.303 3 5 --- --- --- --- HLA-F-AS1 0 broad.mit.edu 37 6 29709414 29709414 + RNA DEL A A - TCGA-ET-A3DT-01A-11D-A19J-08 TCGA-ET-A3DT-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 71d4fa4b-f805-4b31-957e-defc6913a3c5 79039652-38f5-4155-8ee4-bf4312bde77d g.chr6:29709414delA ENST00000458236.1 - 0 349 tagtttccccatttcatagat 0.458 2 4 --- --- --- ---