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 FAM189A2 9413 broad.mit.edu 37 9 71990650 71990650 + Splice_Site SNP A A C TCGA-EM-A3SU-06A-11D-A22Z-08 TCGA-EM-A3SU-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90079af6-21f0-4aac-9dcc-327b5e8723a2 1ef6114a-a3ca-4992-9510-4209bfd07727 g.chr9:71990650A>C ENST00000257515.8 + 4 543 c.e4-1 FAM189A2_ENST00000303068.7_Splice_Site|FAM189A2_ENST00000455972.1_Splice_Site NM_004816.3 NP_004807.3 Q15884 F1892_HUMAN family with sequence similarity 189, member A2 integral to membrane endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 12 TCCTCCGTTAAGGTGGACTTA 0.403000 10 58 0 0 1 0 0 HIST1H4E 8367 broad.mit.edu 37 6 26204886 26204886 + Missense_Mutation SNP G G A TCGA-EM-A3SU-06A-11D-A22Z-08 TCGA-EM-A3SU-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90079af6-21f0-4aac-9dcc-327b5e8723a2 1ef6114a-a3ca-4992-9510-4209bfd07727 g.chr6:26204886G>A ENST00000360441.4 + 1 29 c.14G>A c.(13-15)gGc>gAc p.G5D NM_003545.3 NP_003536.1 P62805 H4_HUMAN histone cluster 1, H4e 5 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding p.G5D(1) breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2) 18 all_hematologic(11;0.196) TCTGGTCGCGGCAAAGGCGGA 0.517000 5 89 0 0 1 0 0 AGAP10 728127 broad.mit.edu 37 10 47207813 47207813 + Splice_Site SNP T T C TCGA-EM-A3SU-06A-11D-A22Z-08 TCGA-EM-A3SU-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90079af6-21f0-4aac-9dcc-327b5e8723a2 1ef6114a-a3ca-4992-9510-4209bfd07727 g.chr10:47207813T>C ENST00000355232.3 - 5 3482 c.471_splice c.e5+1 p.H157_splice AGAP10_ENST00000452145.2_Splice_Site_p.H132_splice|AGAP10_ENST00000413193.2_Splice_Site_p.H228_splice|RP11-144G6.12_ENST00000605970.1_RNA ArfGAP with GTPase domain, ankyrin repeat and PH domain 10 p.H228R(20) endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1) 12 TTTACTTACATGGTTTGTACA 0.294000 3 16 0 0 1 0 0 XPNPEP1 7511 broad.mit.edu 37 10 111630550 111630550 + Silent SNP G G A rs143796899 TCGA-EM-A3SU-06A-11D-A22Z-08 TCGA-EM-A3SU-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90079af6-21f0-4aac-9dcc-327b5e8723a2 1ef6114a-a3ca-4992-9510-4209bfd07727 g.chr10:111630550G>A ENST00000502935.1 - 18 1754 c.1635C>T c.(1633-1635)tgC>tgT p.C545C XPNPEP1_ENST00000322238.8_Silent_p.C521C|XPNPEP1_ENST00000369680.4_Silent_p.C502C|XPNPEP1_ENST00000369683.1_Silent_p.C431C Q9NQW7 XPP1_HUMAN X-prolyl aminopeptidase (aminopeptidase P) 1, soluble 502 bradykinin catabolic process|proteolysis manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity p.C502C(2)|p.C545C(2) endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1) 31 Breast(234;0.174) Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721) AACTGATGCCGCAAGGACCCT 0.498000 4 70 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EM-A3SU-06A-11D-A22Z-08 TCGA-EM-A3SU-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90079af6-21f0-4aac-9dcc-327b5e8723a2 1ef6114a-a3ca-4992-9510-4209bfd07727 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 4 32 0 0 1 0 0 MTNR1A 4543 broad.mit.edu 37 4 187455432 187455432 + Missense_Mutation SNP G G A TCGA-EM-A3SU-06A-11D-A22Z-08 TCGA-EM-A3SU-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90079af6-21f0-4aac-9dcc-327b5e8723a2 1ef6114a-a3ca-4992-9510-4209bfd07727 g.chr4:187455432G>A ENST00000307161.5 - 2 665 c.464C>T c.(463-465)aCg>aTg p.T155M RP11-215A19.2_ENST00000509111.1_Intron NM_005958.3 NP_005949.1 P48039 MTR1A_HUMAN melatonin receptor 1A 155 circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior integral to plasma membrane melatonin receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 14 all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159) Melatonin(DB01065)|Ramelteon(DB00980) GGCCGCCAGCGTCAGGAGCCA 0.597000 4 43 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140996386 140996386 + Missense_Mutation SNP C C T TCGA-EM-A3SU-06A-11D-A22Z-08 TCGA-EM-A3SU-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90079af6-21f0-4aac-9dcc-327b5e8723a2 1ef6114a-a3ca-4992-9510-4209bfd07727 g.chrX:140996386C>T ENST00000285879.4 + 4 3482 c.3196C>T c.(3196-3198)Cgt>Tgt p.R1066C MAGEC1_ENST00000406005.2_Missense_Mutation_p.R133C NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 1066 MAGE. protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TTCTCCTCCTCGTTACGAATT 0.493000 HNSCC(15;0.026) 11 108 0 0 1 0 0 KLF7 8609 broad.mit.edu 37 2 207988858 207988858 + Missense_Mutation SNP C C T TCGA-EM-A3SU-06A-11D-A22Z-08 TCGA-EM-A3SU-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90079af6-21f0-4aac-9dcc-327b5e8723a2 1ef6114a-a3ca-4992-9510-4209bfd07727 g.chr2:207988858C>T ENST00000309446.6 - 2 749 c.373G>A c.(373-375)Gtc>Atc p.V125I KLF7_ENST00000421199.1_Missense_Mutation_p.V92I|KLF7_ENST00000467833.1_Intron|KLF7_ENST00000458272.1_Intron|KLF7_ENST00000412414.2_Missense_Mutation_p.V97I|KLF7_ENST00000423015.1_Missense_Mutation_p.V125I NM_003709.3 NP_003700.1 O75840 KLF7_HUMAN Kruppel-like factor 7 (ubiquitous) 125 regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|large_intestine(3)|liver(1)|lung(4)|skin(1) 11 LUSC - Lung squamous cell carcinoma(261;0.0856)|Lung(261;0.166)|Epithelial(149;0.173) GCCTGGTTGACGGCTGTGTAG 0.587000 5 28 0 0 1 0 0 REG1A 5967 broad.mit.edu 37 2 79348783 79348783 + Missense_Mutation SNP C C T TCGA-EM-A3SU-06A-11D-A22Z-08 TCGA-EM-A3SU-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90079af6-21f0-4aac-9dcc-327b5e8723a2 1ef6114a-a3ca-4992-9510-4209bfd07727 g.chr2:79348783C>T ENST00000233735.1 + 3 263 c.160C>T c.(160-162)Cgt>Tgt p.R54C NM_002909.4 NP_002900.2 P05451 REG1A_HUMAN regenerating islet-derived 1 alpha 54 C-type lectin. positive regulation of cell proliferation extracellular region growth factor activity|sugar binding NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1) 39 TAATGAAGACCGTGAGACCTG 0.567000 18 140 0 0 1 0 0 SLCO4A1 28231 broad.mit.edu 37 20 61291852 61291852 + Missense_Mutation SNP G G A TCGA-EM-A3SU-06A-11D-A22Z-08 TCGA-EM-A3SU-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90079af6-21f0-4aac-9dcc-327b5e8723a2 1ef6114a-a3ca-4992-9510-4209bfd07727 g.chr20:61291852G>A ENST00000217159.1 + 4 1181 c.976G>A c.(976-978)Gtt>Att p.V326I SLCO4A1_ENST00000370507.1_Missense_Mutation_p.V326I NM_016354.3 NP_057438.3 Q96BD0 SO4A1_HUMAN solute carrier organic anion transporter family, member 4A1 326 sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2) 21 Breast(26;3.65e-08) BRCA - Breast invasive adenocarcinoma(19;2.33e-06) CTTCACCGCCGTTCCCATCCT 0.652000 3 43 0 0 1 0 0 SEMA4C 54910 broad.mit.edu 37 2 97531023 97531024 + Frame_Shift_Ins INS - - A TCGA-EM-A3SU-06A-11D-A22Z-08 TCGA-EM-A3SU-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90079af6-21f0-4aac-9dcc-327b5e8723a2 1ef6114a-a3ca-4992-9510-4209bfd07727 g.chr2:97531023_97531024insA ENST00000305476.5 - 7 683_684 c.551_552insT c.(550-552)tctfs p.S184fs NM_017789.4 NP_060259.4 Q9C0C4 SEM4C_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C 184 Dominant negative effect on myogenic differentiation (By similarity).|Sema. muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane receptor activity NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 17 CCGTGCCCAGGAAGTTGTTGAG 0.579 10 51 --- --- --- --- EPM2A 7957 broad.mit.edu 37 6 146056409 146056410 + Frame_Shift_Del DEL CC CC - TCGA-EM-A3SU-06A-11D-A22Z-08 TCGA-EM-A3SU-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90079af6-21f0-4aac-9dcc-327b5e8723a2 1ef6114a-a3ca-4992-9510-4209bfd07727 g.chr6:146056409_146056410delCC ENST00000367519.3 - 1 750_751 c.225_226delGG c.(223-228)ggcgfs p.GA75fs NM_005670.3 NP_005661.1 O95278 EPM2A_HUMAN epilepsy, progressive myoclonus type 2A, Lafora disease (laforin) 75 CBM20. glycogen metabolic process cytosol|endoplasmic reticulum|nucleus|plasma membrane|polysome carbohydrate binding|identical protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1) 7 Ovarian(120;0.162) OV - Ovarian serous cystadenocarcinoma(155;3.38e-07)|GBM - Glioblastoma multiforme(68;0.0203) CCCGGCTCCGCCCCGTCCTGCG 0.752 2 4 --- --- --- --- NUTM2F 54754 broad.mit.edu 37 9 97080945 97080947 + In_Frame_Del DEL AGA AGA - TCGA-EM-A3SU-06A-11D-A22Z-08 TCGA-EM-A3SU-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90079af6-21f0-4aac-9dcc-327b5e8723a2 1ef6114a-a3ca-4992-9510-4209bfd07727 g.chr9:97080945_97080947delAGA ENST00000253262.4 - 7 2091_2093 c.2071_2073delTCT c.(2071-2073)del p.S691del NUTM2F_ENST00000335456.7_Intron|NUTM2F_ENST00000341207.4_In_Frame_Del_p.S676del NM_017561.1 NP_060031.1 NUT family member 2F p.S557delS(1) TGCTGGCAGGAGAAGGTGATGGG 0.611 7 5 --- --- --- --- SERPING1 710 broad.mit.edu 37 11 57365774 57365776 + In_Frame_Del DEL CTG CTG - TCGA-EM-A3SU-06A-11D-A22Z-08 TCGA-EM-A3SU-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90079af6-21f0-4aac-9dcc-327b5e8723a2 1ef6114a-a3ca-4992-9510-4209bfd07727 g.chr11:57365774_57365776delCTG ENST00000403558.1 + 1 499_501 c.133_135delCTG c.(133-135)del p.L49del SERPING1_ENST00000278407.4_In_Frame_Del_p.L15del|SERPING1_ENST00000378323.4_In_Frame_Del_p.L15del|SERPING1_ENST00000378324.2_Intron|SERPING1_ENST00000340687.6_In_Frame_Del_p.L15del NM_001032295.1 NP_001027466.1 P05155 IC1_HUMAN serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 15 blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation extracellular space|platelet alpha granule lumen protein binding|serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1) 27 GCTGACCCTCCTGCTGCTGCTGC 0.714 2 4 --- --- --- ---