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 GFAP 2670 broad.mit.edu 37 17 42987560 42987560 + Missense_Mutation SNP C C G TCGA-L6-A4EP-01A-11D-A257-08 TCGA-L6-A4EP-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcd40ca0-653c-4b36-91c8-6679cfc6c65b 13719c80-fb41-4d42-bd4b-bcb4c8503026 g.chr17:42987560C>G uc002ihr.3 - 7 1306 c.1240G>C c.(1240-1242)Gtt>Ctt p.V414L GFAP_uc002ihq.3_Intron|GFAP_uc021tyh.1_3'UTR|GFAP_uc021tyg.1_5'Flank NM_001131019 NP_001124491 P14136 GFAP_HUMAN Homo sapiens glial fibrillary acidic protein (GFAP), transcript variant 2, mRNA. 412 Tail. cytoplasm|intermediate filament structural constituent of cytoskeleton endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 23 Prostate(33;0.0959) ATTGGTATAACTCGTATTGTG 0.493000 36 55 0 0 1 0 0 ANKRD53 79998 broad.mit.edu 37 2 71206350 71206350 + Silent SNP G G A TCGA-L6-A4EP-01A-11D-A257-08 TCGA-L6-A4EP-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcd40ca0-653c-4b36-91c8-6679cfc6c65b 13719c80-fb41-4d42-bd4b-bcb4c8503026 g.chr2:71206350G>A uc002shl.4 + 1 495 c.294G>A c.(292-294)caG>caA p.Q98Q ANKRD53_uc002shk.4_Silent_p.Q98Q NM_001115116 NP_001108588 Q8N9V6 ANR53_HUMAN Homo sapiens ankyrin repeat domain 53 (ANKRD53), transcript variant 1, mRNA. 98 endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 11 AGTCCGACCAGACGGCAATCG 0.682000 9 66 0 0 1 0 0 HUWE1 10075 broad.mit.edu 37 X 53654447 53654447 + Missense_Mutation SNP C C T TCGA-L6-A4EP-01A-11D-A257-08 TCGA-L6-A4EP-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcd40ca0-653c-4b36-91c8-6679cfc6c65b 13719c80-fb41-4d42-bd4b-bcb4c8503026 g.chrX:53654447C>T uc004dsp.3 - 16 1805 c.1403G>A c.(1402-1404)cGa>cAa p.R468Q NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA. 468 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 ACATTCTTTTCGGCACAAATC 0.308000 27 47 0 0 1 0 0 YLPM1 56252 broad.mit.edu 37 14 75265980 75265980 + Missense_Mutation SNP A A G TCGA-L6-A4EP-01A-11D-A257-08 TCGA-L6-A4EP-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcd40ca0-653c-4b36-91c8-6679cfc6c65b 13719c80-fb41-4d42-bd4b-bcb4c8503026 g.chr14:75265980A>G uc001xqj.4 + 4 4104 c.3980A>G c.(3979-3981)gAt>gGt p.D1327G YLPM1_uc001xql.4_Non-coding_Transcript NM_019589 NP_062535 P49750 YLPM1_HUMAN Homo sapiens YLP motif containing 1 (YLPM1), mRNA. 1132 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 62 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) CGTGAACGGGATATTCCATCT 0.448000 5 70 0 0 1 0 0 ATG12 9140 broad.mit.edu 37 5 115177236 115177236 + Missense_Mutation SNP G G A TCGA-L6-A4EP-01A-11D-A257-08 TCGA-L6-A4EP-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcd40ca0-653c-4b36-91c8-6679cfc6c65b 13719c80-fb41-4d42-bd4b-bcb4c8503026 g.chr5:115177236G>A uc003krh.3 - 0 313 c.14C>T c.(13-15)cCg>cTg p.P5L AP3S1_uc003krl.3_5'Flank|AP3S1_uc003krk.3_5'Flank|ATG12_uc021ycr.1_Non-coding_Transcript|ATG12_uc021ycs.1_Non-coding_Transcript|ATG12_uc003kri.3_Missense_Mutation_p.P52L NM_004707 NP_004698 O94817 ATG12_HUMAN Homo sapiens ATG12 autophagy related 12 homolog (S. cerevisiae) (ATG12), transcript variant 1, mRNA. 5 autophagic vacuole assembly|negative regulation of type I interferon production pre-autophagosomal structure membrane protein binding p.P52L(1) endometrium(2)|kidney(1)|lung(1)|prostate(1) 5 all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245) OV - Ovarian serous cystadenocarcinoma(64;7.59e-08)|Epithelial(69;7.05e-07)|all cancers(49;3.11e-05) CACAGACTGCGGCTCCTCCGC 0.607000 9 101 0 0 1 0 0 SF3B1 23451 broad.mit.edu 37 2 198265531 198265531 + Missense_Mutation SNP T T A TCGA-L6-A4EP-01A-11D-A257-08 TCGA-L6-A4EP-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcd40ca0-653c-4b36-91c8-6679cfc6c65b 13719c80-fb41-4d42-bd4b-bcb4c8503026 g.chr2:198265531T>A uc002uue.3 - 17 2674 c.2626A>T c.(2626-2628)Atg>Ttg p.M876L SNORD2_uc021vul.1_5'Flank NM_012433 NP_036565 O75533 SF3B1_HUMAN Homo sapiens splicing factor 3b, subunit 1, 155kDa (SF3B1), transcript variant 1, mRNA. 876 nuclear mRNA splicing, via spliceosome U12-type spliceosomal complex|catalytic step 2 spliceosome|nuclear speck protein binding NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 633 OV - Ovarian serous cystadenocarcinoma(117;0.246) AAATTACCCATAATTTTCTCA 0.368000 Mis myelodysplastic syndrome 17 32 0 0 1 0 0 NKIRAS1 28512 broad.mit.edu 37 3 23942418 23942418 + Missense_Mutation SNP T T C TCGA-L6-A4EP-01A-11D-A257-08 TCGA-L6-A4EP-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcd40ca0-653c-4b36-91c8-6679cfc6c65b 13719c80-fb41-4d42-bd4b-bcb4c8503026 g.chr3:23942418T>C uc003cck.3 - 3 596 c.217A>G c.(217-219)Aag>Gag p.K73E NKIRAS1_uc003ccj.3_Missense_Mutation_p.K73E NM_020345 NP_065078 Q9NYS0 KBRS1_HUMAN Homo sapiens NFKB inhibitor interacting Ras-like 1 (NKIRAS1), mRNA. 73 Interactions with NFKBIA and NFKBIB. I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction cytoplasm GTP binding|GTPase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1) 7 AAATAATGCTTTGGCAGCTCC 0.408000 6 76 0 0 1 0 0 TESPA1 9840 broad.mit.edu 37 12 55356225 55356225 + Missense_Mutation SNP T T C TCGA-L6-A4EP-01A-11D-A257-08 TCGA-L6-A4EP-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcd40ca0-653c-4b36-91c8-6679cfc6c65b 13719c80-fb41-4d42-bd4b-bcb4c8503026 g.chr12:55356225T>C uc001sgn.3 - 8 1567 c.1457A>G c.(1456-1458)gAc>gGc p.D486G TESPA1_uc001sgl.3_Missense_Mutation_p.D348G|TESPA1_uc001sgm.3_Missense_Mutation_p.D233G|TESPA1_uc010spb.1_Missense_Mutation_p.D233G|TESPA1_uc010spc.1_Missense_Mutation_p.D348G|TESPA1_uc010spd.1_Missense_Mutation_p.D486G NM_001098815 NP_001092285 A2RU30 K0748_HUMAN Homo sapiens KIAA0748 (KIAA0748), mRNA. 486 CTCCTCCAAGTCAAAAGTGTC 0.512000 7 97 0 0 1 0 0 OSGIN1 29948 broad.mit.edu 37 16 83998897 83998897 + Missense_Mutation SNP G G A TCGA-L6-A4EP-01A-11D-A257-08 TCGA-L6-A4EP-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcd40ca0-653c-4b36-91c8-6679cfc6c65b 13719c80-fb41-4d42-bd4b-bcb4c8503026 g.chr16:83998897G>A uc002fha.3 + 6 968 c.968G>A c.(967-969)cGc>cAc p.R323H OSGIN1_uc002fhb.3_Missense_Mutation_p.R240H|OSGIN1_uc002fhc.3_Missense_Mutation_p.R240H NM_182981 NP_892026 Q9UJX0 OSGI1_HUMAN Homo sapiens oxidative stress induced growth inhibitor 1 (OSGIN1), nuclear gene encoding mitochondrial protein, mRNA. 323 cell differentiation|multicellular organismal development|negative regulation of cell growth growth factor activity autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1) 12 CTGTGGGCCCGCAACGTGGTC 0.697000 4 55 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-L6-A4EP-01A-11D-A257-08 TCGA-L6-A4EP-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcd40ca0-653c-4b36-91c8-6679cfc6c65b 13719c80-fb41-4d42-bd4b-bcb4c8503026 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 20 29 0 0 1 0 0 OR2AT4 341152 broad.mit.edu 37 11 74800178 74800178 + Missense_Mutation SNP C C T TCGA-L6-A4EP-01A-11D-A257-08 TCGA-L6-A4EP-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcd40ca0-653c-4b36-91c8-6679cfc6c65b 13719c80-fb41-4d42-bd4b-bcb4c8503026 g.chr11:74800178C>T uc010rro.2 - 0 581 c.581G>A c.(580-582)tGc>tAc p.C194Y NM_001005285 NP_001005285 A6NND4 O2AT4_HUMAN Homo sapiens olfactory receptor, family 2, subfamily AT, member 4 (OR2AT4), mRNA. 194 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2) 12 GGTGTCAGAGCAGGAGGCCTG 0.567000 8 52 0 0 1 0 0 PRPF6 24148 broad.mit.edu 37 20 62631011 62631011 + Missense_Mutation SNP C C T TCGA-L6-A4EP-01A-11D-A257-08 TCGA-L6-A4EP-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcd40ca0-653c-4b36-91c8-6679cfc6c65b 13719c80-fb41-4d42-bd4b-bcb4c8503026 g.chr20:62631011C>T uc002yho.3 + 7 1090 c.922C>T c.(922-924)Cac>Tac p.H308Y PRPF6_uc002yhp.3_Missense_Mutation_p.H308Y NM_012469 NP_036601 O94906 PRP6_HUMAN Homo sapiens PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae) (PRPF6), mRNA. 308 assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP|catalytic step 2 spliceosome|nucleoplasm androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09) GAACCCTCATCACCCGCCAGC 0.567000 7 75 0 0 1 0 0 NDUFS1 4719 broad.mit.edu 37 2 207011657 207011657 + Missense_Mutation SNP T T C TCGA-L6-A4EP-01A-11D-A257-08 TCGA-L6-A4EP-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dcd40ca0-653c-4b36-91c8-6679cfc6c65b 13719c80-fb41-4d42-bd4b-bcb4c8503026 g.chr2:207011657T>C uc010ziq.2 - 7 810 c.749A>G c.(748-750)tAt>tGt p.Y250C NDUFS1_uc002vbe.3_Missense_Mutation_p.Y236C|NDUFS1_uc010zir.2_Missense_Mutation_p.Y200C|NDUFS1_uc010zis.2_Missense_Mutation_p.Y179C|NDUFS1_uc010zit.2_Missense_Mutation_p.Y125C|NDUFS1_uc010ziu.2_Missense_Mutation_p.Y120C NM_001199984 NP_001186913 P28331 NDUS1_HUMAN Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase) (NDUFS1), transcript variant 5, mRNA. 236 ATP metabolic process|apoptosis|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport mitochondrial intermembrane space|mitochondrial respiratory chain complex I 2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|NADH dehydrogenase (ubiquinone) activity|electron carrier activity|metal ion binding|protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 NADH(DB00157) AGTAAAGGCATAGGGCTTAGA 0.363000 8 63 0 0 1 0 0