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 MUC16 94025 broad.mit.edu 37 19 8987282 8987282 + Silent SNP C C T rs150582315 by1000genomes TCGA-DJ-A13V-01A-11D-A10S-08 TCGA-DJ-A13V-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72d889ce-0e2a-4d0e-8109-e3c9f7983e84 0105ad75-3d9f-4651-8e51-7d405c2acd2f g.chr19:8987282C>T uc002mkp.3 - 67 42009 c.41805G>A c.(41803-41805)ctG>ctA p.L13935L MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Silent_p.L752L|MUC16_uc021uog.1_Non-coding_Transcript NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 13960 Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CCATGTAGCGCAGGTTGTTGA 0.597000 13 47 0 0 1 0 0 KRTAP10-1 386677 broad.mit.edu 37 21 45959307 45959307 + Missense_Mutation SNP C C T TCGA-DJ-A13V-01A-11D-A10S-08 TCGA-DJ-A13V-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72d889ce-0e2a-4d0e-8109-e3c9f7983e84 0105ad75-3d9f-4651-8e51-7d405c2acd2f g.chr21:45959307C>T uc002zfh.1 - 0 772 c.727G>A c.(727-729)Gcc>Acc p.A243T TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron NM_198691 NP_941964 P60331 KR101_HUMAN Homo sapiens keratin associated protein 10-1 (KRTAP10-1), mRNA. 243 24 X 5 AA repeats of C-C-X(3). keratin filament breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1) 11 ATACAGCAGGCGGGCCGGCAT 0.706000 33 72 0 0 1 0 0 NUP214 8021 broad.mit.edu 37 9 134019854 134019854 + Silent SNP G G A rs147598578 byFrequency TCGA-DJ-A13V-01A-11D-A10S-08 TCGA-DJ-A13V-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72d889ce-0e2a-4d0e-8109-e3c9f7983e84 0105ad75-3d9f-4651-8e51-7d405c2acd2f g.chr9:134019854G>A uc004cag.3 + 11 1593 c.1482G>A c.(1480-1482)acG>acA p.T494T NUP214_uc004cah.3_Silent_p.T494T|NUP214_uc004cai.3_5'UTR|NUP214_uc004caf.1_Silent_p.T494T|NUP214_uc010mzf.3_5'UTR NM_005085 NP_005076 P35658 NU214_HUMAN Homo sapiens nucleoporin 214kDa (NUP214), mRNA. 494 11 X 5 AA approximate repeats. carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 86 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) CATCTGCTACGGTCACTGGGG 0.542000 T """DEK, SET, ABL1""" """AML, T-ALL""" 7 332 0 0 1 0 0 ALOXE3 59344 broad.mit.edu 37 17 8012504 8012504 + Missense_Mutation SNP G G A TCGA-DJ-A13V-01A-11D-A10S-08 TCGA-DJ-A13V-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72d889ce-0e2a-4d0e-8109-e3c9f7983e84 0105ad75-3d9f-4651-8e51-7d405c2acd2f g.chr17:8012504G>A uc002gka.3 - 10 2049 c.2018C>T c.(2017-2019)gCg>gTg p.A673V ALOXE3_uc010cnr.3_Missense_Mutation_p.A517V|ALOXE3_uc010vuo.2_Missense_Mutation_p.A649V NM_021628 NP_067641 Q9BYJ1 LOXE3_HUMAN Homo sapiens arachidonate lipoxygenase 3 (ALOXE3), transcript variant 2, mRNA. 517 Lipoxygenase. leukotriene biosynthetic process iron ion binding|lipoxygenase activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4) 31 CTCAATGGCCGCCCAGATCTT 0.652000 38 38 0 0 1 0 0 TECTA 7007 broad.mit.edu 37 11 120989075 120989075 + Missense_Mutation SNP G G A TCGA-DJ-A13V-01A-11D-A10S-08 TCGA-DJ-A13V-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72d889ce-0e2a-4d0e-8109-e3c9f7983e84 0105ad75-3d9f-4651-8e51-7d405c2acd2f g.chr11:120989075G>A uc010rzo.2 + 5 851 c.851G>A c.(850-852)cGc>cAc p.R284H NM_005422 NP_005413 O75443 TECTA_HUMAN Homo sapiens tectorin alpha (TECTA), mRNA. 284 VWFC. R -> H (in a breast cancer sample; somatic mutation). cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix p.R284H(2) TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) GTCAAGTGCCGCTGTCTGGAT 0.507000 8 77 0 0 1 0 0 MCF2L2 23101 broad.mit.edu 37 3 182937644 182937644 + Splice_Site SNP C C T TCGA-DJ-A13V-01A-11D-A10S-08 TCGA-DJ-A13V-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72d889ce-0e2a-4d0e-8109-e3c9f7983e84 0105ad75-3d9f-4651-8e51-7d405c2acd2f g.chr3:182937644C>T uc003fli.1 - 21 2460 c.2370_splice c.e21+1 p.K790_splice NM_015078 NP_055893 Q86YR7 MF2L2_HUMAN Homo sapiens MCF.2 cell line derived transforming sequence-like 2 (MCF2L2), mRNA. 790 DH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(143;1.26e-12)|Ovarian(172;0.0355) all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) TATTGAGTACCTTAGCCGAGC 0.363000 36 74 0 0 1 0 0 FAM133A 286499 broad.mit.edu 37 X 92964801 92964801 + Missense_Mutation SNP G G T TCGA-DJ-A13V-01A-11D-A10S-08 TCGA-DJ-A13V-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72d889ce-0e2a-4d0e-8109-e3c9f7983e84 0105ad75-3d9f-4651-8e51-7d405c2acd2f g.chrX:92964801G>T uc022bzw.1 + 2 820 c.383G>T c.(382-384)gGa>gTa p.G128V FAM133A_uc022bzu.1_Missense_Mutation_p.G128V|FAM133A_uc004efr.2_Missense_Mutation_p.G128V|FAM133A_uc022bzv.1_Missense_Mutation_p.G128V|FAM133A_uc022bzx.1_Missense_Mutation_p.G128V NM_001171111 NP_775969 Q8N9E0 F133A_HUMAN Homo sapiens family with sequence similarity 133, member A (FAM133A), transcript variant 4, mRNA. 128 Lys-rich.|Ser-rich. p.G128*(1) breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1) 20 AAGAAACAAGGAAAAAGGAGA 0.368000 6 19 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A13V-01A-11D-A10S-08 TCGA-DJ-A13V-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72d889ce-0e2a-4d0e-8109-e3c9f7983e84 0105ad75-3d9f-4651-8e51-7d405c2acd2f 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 33 76 0 0 1 0 0 NRIP1 8204 broad.mit.edu 37 21 16338129 16338129 + Silent SNP T T C TCGA-DJ-A13V-01A-11D-A10S-08 TCGA-DJ-A13V-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72d889ce-0e2a-4d0e-8109-e3c9f7983e84 0105ad75-3d9f-4651-8e51-7d405c2acd2f g.chr21:16338129T>C uc002yjx.2 - 3 2983 c.2385A>G c.(2383-2385)ttA>ttG p.L795L NRIP1_uc021whl.1_Silent_p.L795L NM_003489 NP_003480 P48552 NRIP1_HUMAN Homo sapiens nuclear receptor interacting protein 1 (NRIP1), mRNA. 795 Repression domain 3. androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 39 Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24) CGGACACTGGTAAGGCAGGTG 0.448000 5 91 0 0 1 0 0 RRN3P1 730092 broad.mit.edu 37 16 21809170 21809170 + Missense_Mutation SNP T T C TCGA-DJ-A13V-01A-11D-A10S-08 TCGA-DJ-A13V-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72d889ce-0e2a-4d0e-8109-e3c9f7983e84 0105ad75-3d9f-4651-8e51-7d405c2acd2f g.chr16:21809170T>C uc010vbl.1 - 10 1027 c.530A>G c.(529-531)tAt>tGt p.Y177C LOC23117_uc021tel.1_Intron Homo sapiens RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1 (RRN3P1), non-coding RNA. ACTCTGAGGATACTGCAAACC 0.338000 35 44 0 0 1 0 0 DNAJC13 23317 broad.mit.edu 37 3 132196865 132196865 + Missense_Mutation SNP A A C TCGA-DJ-A13V-01A-11D-A10S-08 TCGA-DJ-A13V-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72d889ce-0e2a-4d0e-8109-e3c9f7983e84 0105ad75-3d9f-4651-8e51-7d405c2acd2f g.chr3:132196865A>C uc003eor.3 + 23 2655 c.2590A>C c.(2590-2592)Acc>Ccc p.T864P NM_015268 NP_056083 O75165 DJC13_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 13 (DNAJC13), mRNA. 864 heat shock protein binding breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1) 34 CTTCTTGCTCACCCCAAAAGT 0.328000 67 69 0 0 1 0 0 CDH8 1006 broad.mit.edu 37 16 62055204 62055204 + Missense_Mutation SNP G G C TCGA-DJ-A13V-01A-11D-A10S-08 TCGA-DJ-A13V-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72d889ce-0e2a-4d0e-8109-e3c9f7983e84 0105ad75-3d9f-4651-8e51-7d405c2acd2f g.chr16:62055204G>C uc002eog.2 - 1 1059 c.104C>G c.(103-105)tCt>tGt p.S35C NM_001796 NP_001787 P55286 CADH8_HUMAN Homo sapiens cadherin 8, type 2 (CDH8), mRNA. 35 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) TAAAACTTGAGACTGATTCAT 0.438000 4 85 0 0 1 0 0