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 EIF1AX 1964 broad.mit.edu 37 X 20148725 20148726 + Splice_Site DNP GC GC AA TCGA-EM-A1YA-01A-11D-A14W-08 TCGA-EM-A1YA-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e872b54-1efb-4071-ac86-1f53a45dd752 365c3166-e324-47d9-af32-52121df03116 g.chrX:20148725_20148726GC>AA uc004czt.3 - 6 546 c.338_splice c.e6-1 p.A113_splice NM_001412 NP_001403 P47813 IF1AX_HUMAN Homo sapiens eukaryotic translation initiation factor 1A, X-linked (EIF1AX), mRNA. 113 cytosol translation initiation factor activity endometrium(2)|lung(1)|ovary(1)|prostate(1) 5 ATTGATTTTAGCTAAGGACACA 0.312000 22 41 0 0 1 0 0 ALPK1 80216 broad.mit.edu 37 4 113362205 113362205 + Missense_Mutation SNP A A G TCGA-EM-A1YA-01A-11D-A14W-08 TCGA-EM-A1YA-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e872b54-1efb-4071-ac86-1f53a45dd752 365c3166-e324-47d9-af32-52121df03116 g.chr4:113362205A>G uc003ian.4 + 14 3898 c.3671A>G c.(3670-3672)gAa>gGa p.E1224G ALPK1_uc003iap.4_Missense_Mutation_p.E1224G|ALPK1_uc011cfx.2_Missense_Mutation_p.E1146G|ALPK1_uc003iao.4_Non-coding_Transcript|ALPK1_uc010imo.3_Missense_Mutation_p.E1052G NM_001102406 NP_079420 Q96QP1 ALPK1_HUMAN Homo sapiens alpha-kinase 1 (ALPK1), transcript variant 2, mRNA. 1224 Alpha-type protein kinase. ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1) 53 Ovarian(17;0.0446)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00325) CAGCATGTGGAATGTAATGAA 0.383000 56 121 0 0 1 0 0 PSG9 5678 broad.mit.edu 37 19 43766171 43766171 + Missense_Mutation SNP C C A TCGA-EM-A1YA-01A-11D-A14W-08 TCGA-EM-A1YA-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e872b54-1efb-4071-ac86-1f53a45dd752 365c3166-e324-47d9-af32-52121df03116 g.chr19:43766171C>A uc002owd.4 - 2 649 c.550G>T c.(550-552)Ggt>Tgt p.G184C PSG9_uc002owe.4_Missense_Mutation_p.G184C|PSG9_uc010xwm.2_Intron|PSG9_uc002owf.4_Intron|PSG9_uc002owg.2_Missense_Mutation_p.G184C NM_002784 NP_002775 Q00887 PSG9_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA. 184 Ig-like C2-type 1. female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Prostate(69;0.00682) AGGCTCTGACCATTCATCCAC 0.507000 109 165 0 0 1 0 0 IARS 3376 broad.mit.edu 37 9 95050407 95050407 + Splice_Site SNP C C G TCGA-EM-A1YA-01A-11D-A14W-08 TCGA-EM-A1YA-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e872b54-1efb-4071-ac86-1f53a45dd752 365c3166-e324-47d9-af32-52121df03116 g.chr9:95050407C>G uc004art.1 - 3 533 c.276_splice c.e3+1 p.V92_splice IARS_uc004ars.1_Splice_Site|IARS_uc004aru.3_Splice_Site_p.V92_splice|IARS_uc010mqr.2_Intron|IARS_uc010mqt.2_Intron NM_013417 NP_038203 P41252 SYIC_HUMAN Homo sapiens isoleucyl-tRNA synthetase (IARS), transcript variant long, mRNA. 92 isoleucyl-tRNA aminoacylation cytosol|nucleus|soluble fraction ATP binding|isoleucine-tRNA ligase activity|protein binding breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 35 L-Isoleucine(DB00167) CTCAAACATACCACAGGTAAG 0.348000 3 54 0 0 1 0 0 SPRED2 200734 broad.mit.edu 37 2 65540763 65540763 + Missense_Mutation SNP G G A TCGA-EM-A1YA-01A-11D-A14W-08 TCGA-EM-A1YA-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e872b54-1efb-4071-ac86-1f53a45dd752 365c3166-e324-47d9-af32-52121df03116 g.chr2:65540763G>A uc002sdr.4 - 5 1664 c.1129C>T c.(1129-1131)Cgg>Tgg p.R377W SPRED2_uc010fcw.3_Missense_Mutation_p.R374W NM_181784 NP_861449 Q7Z698 SPRE2_HUMAN Homo sapiens sprouty-related, EVH1 domain containing 2 (SPRED2), transcript variant 1, mRNA. 377 SPR. inactivation of MAPK activity|multicellular organismal development transport vesicle membrane stem cell factor receptor binding breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3) 34 GCCATCCACCGGAGGCAAAAC 0.577000 3 34 0 0 1 0 0 PKM2 5315 broad.mit.edu 37 15 72495521 72495521 + Silent SNP A A G TCGA-EM-A1YA-01A-11D-A14W-08 TCGA-EM-A1YA-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e872b54-1efb-4071-ac86-1f53a45dd752 365c3166-e324-47d9-af32-52121df03116 g.chr15:72495521A>G uc010uki.2 - 9 1770 c.1371T>C c.(1369-1371)cgT>cgC p.R457R PKM2_uc002atr.1_5'Flank|PKM2_uc010bit.1_Silent_p.R388R|PKM2_uc002atx.2_Silent_p.R383R|PKM2_uc002atw.2_Silent_p.R383R|PKM2_uc002aty.2_Intron|PKM2_uc010ukj.2_Intron|PKM2_uc010ukk.2_Intron|PKM2_uc002atv.2_Silent_p.R418R|PKM2_uc010biu.1_Silent_p.R404R NM_001206796 NP_001193725 P14618 KPYM_HUMAN Homo sapiens pyruvate kinase, muscle (PKM2), transcript variant 4, mRNA. 383 Interaction with POU5F1. glycolysis|programmed cell death cytosol|nucleus|plasma membrane ATP binding|magnesium ion binding|potassium ion binding|protein binding|pyruvate kinase activity breast(1)|endometrium(1)|large_intestine(4)|lung(6)|prostate(1) 13 Pyruvic acid(DB00119) CCTCAGCCTCACGAGCTATCT 0.527000 3 42 0 0 1 0 0 TMPRSS15 5651 broad.mit.edu 37 21 19666639 19666639 + Missense_Mutation SNP C C T TCGA-EM-A1YA-01A-11D-A14W-08 TCGA-EM-A1YA-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e872b54-1efb-4071-ac86-1f53a45dd752 365c3166-e324-47d9-af32-52121df03116 g.chr21:19666639C>T uc002ykw.3 - 20 2465 c.2434G>A c.(2434-2436)Gca>Aca p.A812T NM_002772 NP_002763 P98073 ENTK_HUMAN Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA. 812 Peptidase S1. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 85 ACGAGAGATGCGCCGCAGAGC 0.567000 5 64 0 0 1 0 0 SLC10A5 347051 broad.mit.edu 37 8 82606560 82606560 + Silent SNP T T A TCGA-EM-A1YA-01A-11D-A14W-08 TCGA-EM-A1YA-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e872b54-1efb-4071-ac86-1f53a45dd752 365c3166-e324-47d9-af32-52121df03116 g.chr8:82606560T>A uc011lfs.2 - 0 648 c.648A>T c.(646-648)ccA>ccT p.P216P NM_001010893 NP_001010893 Q5PT55 NTCP5_HUMAN Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 5 (SLC10A5), mRNA. 216 integral to membrane bile acid:sodium symporter activity autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5) 15 CACCCCCTCCTGGGCACGTGC 0.468000 42 73 0 0 1 0 0 ENPP1 5167 broad.mit.edu 37 6 132171195 132171195 + Missense_Mutation SNP G G A TCGA-EM-A1YA-01A-11D-A14W-08 TCGA-EM-A1YA-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e872b54-1efb-4071-ac86-1f53a45dd752 365c3166-e324-47d9-af32-52121df03116 g.chr6:132171195G>A uc011ecf.2 + 2 399 c.379G>A c.(379-381)Gtt>Att p.V127I NM_006208 NP_006199 P22413 ENPP1_HUMAN Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), mRNA. 127 SMB 1. 3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process basolateral plasma membrane|cell surface|extracellular space|integral to membrane ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 46 Breast(56;0.0505) GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022) Amifostine(DB01143)|Ribavirin(DB00811) TGCTGCCTGTGTTGAGCTTGG 0.413000 9 89 0 0 1 0 0 RGPD5 84220 broad.mit.edu 37 2 113174792 113174792 + Missense_Mutation SNP C C T TCGA-EM-A1YA-01A-11D-A14W-08 TCGA-EM-A1YA-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e872b54-1efb-4071-ac86-1f53a45dd752 365c3166-e324-47d9-af32-52121df03116 g.chr2:113174792C>T uc002ths.2 - 5 952 c.760G>A c.(760-762)Gaa>Aaa p.E254K RGPD5_uc010fkk.2_Intron|RGPD5_uc002tht.1_Intron|RGPD5_uc010yxm.2_Missense_Mutation_p.E254K NM_005054 NP_001157935 Q99666 RGPD5_HUMAN Homo sapiens RANBP2-like and GRIP domain containing 5 (RGPD5), transcript variant 1, mRNA. 254 intracellular transport cytoplasm binding central_nervous_system(1) 1 TCTCTATTTTCCTGCACATCT 0.388000 56 102 0 0 1 0 0 IGSF22 283284 broad.mit.edu 37 11 18731052 18731052 + Nonsense_Mutation SNP G G C TCGA-EM-A1YA-01A-11D-A14W-08 TCGA-EM-A1YA-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e872b54-1efb-4071-ac86-1f53a45dd752 365c3166-e324-47d9-af32-52121df03116 g.chr11:18731052G>C uc009yht.2 - 17 3070 c.2880C>G c.(2878-2880)taC>taG p.Y960* IGSF22_uc001mpa.2_Non-coding_Transcript NM_173588 NP_775859 Q8N9C0 IGS22_HUMAN Homo sapiens immunoglobulin superfamily, member 22 (IGSF22), mRNA. 859 NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3) 56 CTCCCACTGTGTAGCAGGTGC 0.567000 4 102 0 0 1 0 0