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 PIK3CD 5293 broad.mit.edu 37 1 9783218 9783218 + Missense_Mutation SNP G G A TCGA-ET-A2N4-01A-12D-A19J-08 TCGA-ET-A2N4-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e2107cb-8c52-4f2a-8c41-1a305c14044c c9f32c4e-5746-4269-9e5b-e8816cf87b93 g.chr1:9783218G>A uc001aqe.4 + 18 2742 c.2534G>A c.(2533-2535)cGc>cAc p.R845H PIK3CD_uc001aqb.4_Missense_Mutation_p.R821H|PIK3CD_uc010oaf.2_Missense_Mutation_p.R820H|PIK3CD_uc021ogb.1_Missense_Mutation_p.R605H NM_005026 NP_005017 O00329 PK3CD_HUMAN Homo sapiens phosphoinositide-3-kinase, catalytic, delta polypeptide (PIK3CD), mRNA. 821 PI3K/PI4K. phosphatidylinositol-mediated signaling|protein phosphorylation phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding p.R821H(1) central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 all_lung(157;0.222) all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419) ACCGGGGACCGCACAGGCCTC 0.602000 5 398 0 0 1 0 0 LY9 4063 broad.mit.edu 37 1 160784239 160784239 + Missense_Mutation SNP G G A TCGA-ET-A2N4-01A-12D-A19J-08 TCGA-ET-A2N4-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e2107cb-8c52-4f2a-8c41-1a305c14044c c9f32c4e-5746-4269-9e5b-e8816cf87b93 g.chr1:160784239G>A uc001fwu.3 + 3 810 c.760G>A c.(760-762)Ggg>Agg p.G254R LY9_uc010pjs.1_Missense_Mutation_p.G254R|LY9_uc001fwv.3_Missense_Mutation_p.G254R|LY9_uc001fww.3_Missense_Mutation_p.G254R|LY9_uc001fwy.1_Missense_Mutation_p.G156R|LY9_uc001fwz.3_5'UTR NM_002348 NP_002339 Q9HBG7 LY9_HUMAN Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA. 254 Ig-like V-type 2. cell adhesion|immunoglobulin mediated immune response integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) AGGAACAACGGGGGAGACTGT 0.582000 50 92 0 0 1 0 0 POM121 9883 broad.mit.edu 37 7 72413486 72413486 + Missense_Mutation SNP C C T TCGA-ET-A2N4-01A-12D-A19J-08 TCGA-ET-A2N4-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e2107cb-8c52-4f2a-8c41-1a305c14044c c9f32c4e-5746-4269-9e5b-e8816cf87b93 g.chr7:72413486C>T uc003twk.2 + 10 2954 c.2954C>T c.(2953-2955)cCg>cTg p.P985L POM121_uc003twj.3_Missense_Mutation_p.P720L|POM121_uc010lam.1_Missense_Mutation_p.P720L NM_172020 NP_742017 Q96HA1 P121A_HUMAN Homo sapiens POM121 membrane glycoprotein (POM121), mRNA. 985 Pore side (Potential). carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Lung NSC(55;0.163) GCCGCCAAGCCGGCCCTTGCC 0.657000 8 171 0 0 1 0 0 CYP24A1 1591 broad.mit.edu 37 20 52775530 52775530 + Missense_Mutation SNP G G A TCGA-ET-A2N4-01A-12D-A19J-08 TCGA-ET-A2N4-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e2107cb-8c52-4f2a-8c41-1a305c14044c c9f32c4e-5746-4269-9e5b-e8816cf87b93 g.chr20:52775530G>A uc002xwv.2 - 7 1521 c.1123C>T c.(1123-1125)Ccg>Tcg p.P375S CYP24A1_uc002xwu.1_Missense_Mutation_p.P233S|CYP24A1_uc002xww.2_Missense_Mutation_p.P375S NM_000782 NP_000773 Q07973 CP24A_HUMAN Homo sapiens cytochrome P450, family 24, subfamily A, polypeptide 1 (CYP24A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 375 hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process mitochondrial inner membrane 1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05) STAD - Stomach adenocarcinoma(23;0.206) Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910) TTTAAATACGGCATATTCCTC 0.388000 4 206 0 0 1 0 0 PHLDB2 90102 broad.mit.edu 37 3 111693318 111693318 + Missense_Mutation SNP T T A TCGA-ET-A2N4-01A-12D-A19J-08 TCGA-ET-A2N4-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e2107cb-8c52-4f2a-8c41-1a305c14044c c9f32c4e-5746-4269-9e5b-e8816cf87b93 g.chr3:111693318T>A uc010hqa.3 + 17 4081 c.3670T>A c.(3670-3672)Tat>Aat p.Y1224N PHLDB2_uc003dyc.3_Missense_Mutation_p.Y1208N|PHLDB2_uc003dyd.3_Missense_Mutation_p.Y1181N|PHLDB2_uc003dyg.3_Missense_Mutation_p.Y1224N|PHLDB2_uc003dyh.3_Missense_Mutation_p.Y1181N|PHLDB2_uc003dyi.3_Missense_Mutation_p.Y715N|PHLDB2_uc003dyj.3_Missense_Mutation_p.Y279N NM_001134438 NP_001127911 Q86SQ0 PHLB2_HUMAN Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA. 1224 PH. cytoplasm|intermediate filament cytoskeleton|plasma membrane breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 TGACAGAATCTATTATATGGT 0.388000 47 112 0 0 1 0 0 CGN 57530 broad.mit.edu 37 1 151491695 151491695 + Missense_Mutation SNP C C T TCGA-ET-A2N4-01A-12D-A19J-08 TCGA-ET-A2N4-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e2107cb-8c52-4f2a-8c41-1a305c14044c c9f32c4e-5746-4269-9e5b-e8816cf87b93 g.chr1:151491695C>T uc009wmw.3 + 1 844 c.700C>T c.(700-702)Cac>Tac p.H234Y NM_020770 NP_065821 Q9P2M7 CING_HUMAN Homo sapiens cingulin (CGN), mRNA. 228 Head.|Interacts with ZO-2. myosin complex|tight junction actin binding|motor activity NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 45 Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) GTCCACCAACCACTGGACCTC 0.587000 89 176 0 0 1 0 0 GLG1 2734 broad.mit.edu 37 16 74530417 74530417 + Silent SNP C C T TCGA-ET-A2N4-01A-12D-A19J-08 TCGA-ET-A2N4-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e2107cb-8c52-4f2a-8c41-1a305c14044c c9f32c4e-5746-4269-9e5b-e8816cf87b93 g.chr16:74530417C>T uc002fcx.3 - 4 950 c.900G>A c.(898-900)gaG>gaA p.E300E GLG1_uc002fcw.4_Silent_p.E289E|GLG1_uc002fcy.4_Silent_p.E300E|GLG1_uc002fcz.4_Intron NM_012201 NP_036333 Q92896 GSLG1_HUMAN Homo sapiens golgi glycoprotein 1 (GLG1), transcript variant 1, mRNA. 300 Golgi membrane|integral to membrane receptor binding breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1) 57 CCGATGACAGCTCAGCCACCC 0.448000 6 123 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181767534 181767534 + Missense_Mutation SNP T T C TCGA-ET-A2N4-01A-12D-A19J-08 TCGA-ET-A2N4-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e2107cb-8c52-4f2a-8c41-1a305c14044c c9f32c4e-5746-4269-9e5b-e8816cf87b93 g.chr1:181767534T>C uc009wxt.3 + 47 6701 c.6506T>C c.(6505-6507)cTc>cCc p.L2169P CACNA1E_uc001gow.3_Missense_Mutation_p.L2126P|CACNA1E_uc009wxs.3_Missense_Mutation_p.L2107P NM_001205293 NP_001192222 Q15878 CAC1E_HUMAN Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA. 2169 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 CCCCGGCCCCTCCTTTCCTAC 0.637000 4 202 0 0 1 0 0 PRDX1 5052 broad.mit.edu 37 1 45984618 45984618 + Missense_Mutation SNP T T C TCGA-ET-A2N4-01A-12D-A19J-08 TCGA-ET-A2N4-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e2107cb-8c52-4f2a-8c41-1a305c14044c c9f32c4e-5746-4269-9e5b-e8816cf87b93 g.chr1:45984618T>C uc001coc.3 - 1 413 c.98A>G c.(97-99)gAc>gGc p.D33G PRDX1_uc001cob.3_Missense_Mutation_p.D33G|PRDX1_uc001coa.3_Missense_Mutation_p.D33G|PRDX1_uc021omw.1_Missense_Mutation_p.D33G NM_181696 NP_859048 Q06830 PRDX1_HUMAN Homo sapiens peroxiredoxin 1 (PRDX1), transcript variant 2, mRNA. 33 Thioredoxin. cell proliferation|cell redox homeostasis|hydrogen peroxide catabolic process|skeletal system development melanosome|mitochondrion|nucleus protein binding|thioredoxin peroxidase activity p.S32fs*41(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|skin(1) 12 Acute lymphoblastic leukemia(166;0.155) ACCTTTGTAGTCAGACAGGCT 0.413000 6 89 0 0 1 0 0 COL1A2 1278 broad.mit.edu 37 7 94058709 94058709 + Silent SNP G G A TCGA-ET-A2N4-01A-12D-A19J-08 TCGA-ET-A2N4-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e2107cb-8c52-4f2a-8c41-1a305c14044c c9f32c4e-5746-4269-9e5b-e8816cf87b93 g.chr7:94058709G>A uc003ung.1 + 50 4392 c.3921G>A c.(3919-3921)agG>agA p.R1307R COL1A2_uc011kib.1_Silent_p.R159R NM_000089 NP_000080 P08123 CO1A2_HUMAN Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA. 1307 Fibrillar collagen NC1. Rho protein signal transduction|axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) GCAACAGCAGGTTCACTTACA 0.453000 HNSCC(75;0.22) 28 51 0 0 1 0 0 CYSLTR2 57105 broad.mit.edu 37 13 49281729 49281729 + Missense_Mutation SNP G G A TCGA-ET-A2N4-01A-12D-A19J-08 TCGA-ET-A2N4-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e2107cb-8c52-4f2a-8c41-1a305c14044c c9f32c4e-5746-4269-9e5b-e8816cf87b93 g.chr13:49281729G>A uc010acw.1 + 1 1066 c.776G>A c.(775-777)tGt>tAt p.C259Y CYSLTR2_uc010acx.1_Missense_Mutation_p.C259Y|CYSLTR2_uc010acy.1_Missense_Mutation_p.C259Y|CYSLTR2_uc010acz.1_Missense_Mutation_p.C259Y|CYSLTR2_uc010ada.1_Missense_Mutation_p.C259Y|CYSLTR2_uc010adb.1_Missense_Mutation_p.C259Y|CYSLTR2_uc010adc.1_Missense_Mutation_p.C259Y|CYSLTR2_uc010add.1_Missense_Mutation_p.C259Y|CYSLTR2_uc001vck.2_Missense_Mutation_p.C259Y|CYSLTR2_uc021rjl.1_Missense_Mutation_p.C259Y NM_020377 NP_065110 Q9NS75 CLTR2_HUMAN Homo sapiens cysteinyl leukotriene receptor 2 (CYSLTR2), mRNA. 259 immune response integral to membrane|plasma membrane endometrium(2)|large_intestine(4)|lung(12)|skin(2) 20 all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787) GBM - Glioblastoma multiforme(99;1.19e-09) Nedocromil(DB00716) TTCTTCTTGTGTTTCCTGCCC 0.498000 50 63 0 0 1 0 0 SFI1 9814 broad.mit.edu 37 22 31927093 31927093 + Missense_Mutation SNP A A G TCGA-ET-A2N4-01A-12D-A19J-08 TCGA-ET-A2N4-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e2107cb-8c52-4f2a-8c41-1a305c14044c c9f32c4e-5746-4269-9e5b-e8816cf87b93 g.chr22:31927093A>G uc003ale.3 + 3 709 c.316A>G c.(316-318)Aga>Gga p.R106G SFI1_uc003ald.1_Intron|SFI1_uc003alf.3_Missense_Mutation_p.R106G|SFI1_uc003alg.3_Intron|SFI1_uc011alp.2_Intron|SFI1_uc011alq.2_Intron|SFI1_uc003alh.3_Intron NM_001007467 NP_001007468 A8K8P3 SFI1_HUMAN Homo sapiens Sfi1 homolog, spindle assembly associated (yeast) (SFI1), transcript variant 1, mRNA. 106 G2/M transition of mitotic cell cycle centriole|cytosol NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3) 38 GACTTTTGGAAGAGTATTTCC 0.318000 6 87 0 0 1 0 0 GPR97 222487 broad.mit.edu 37 16 57718006 57718006 + Silent SNP C C T TCGA-ET-A2N4-01A-12D-A19J-08 TCGA-ET-A2N4-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e2107cb-8c52-4f2a-8c41-1a305c14044c c9f32c4e-5746-4269-9e5b-e8816cf87b93 g.chr16:57718006C>T uc002emh.3 + 8 1147 c.1044C>T c.(1042-1044)ttC>ttT p.F348F GPR97_uc010vhv.2_Silent_p.F228F|GPR97_uc010cdd.3_Intron|GPR97_uc010cde.3_Intron NM_170776 NP_740746 Q86Y34 GPR97_HUMAN Homo sapiens G protein-coupled receptor 97 (GPR97), mRNA. 348 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 TCCACTACTTCCTGCTCTGTG 0.587000 49 118 0 0 1 0 0 ALPI 248 broad.mit.edu 37 2 233321115 233321115 + Missense_Mutation SNP G G T TCGA-ET-A2N4-01A-12D-A19J-08 TCGA-ET-A2N4-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e2107cb-8c52-4f2a-8c41-1a305c14044c c9f32c4e-5746-4269-9e5b-e8816cf87b93 g.chr2:233321115G>T uc002vst.4 + 1 201 c.124G>T c.(124-126)Gcc>Tcc p.A42S ALPI_uc002vsu.4_5'UTR NM_001631 NP_001622 P09923 PPBI_HUMAN Homo sapiens alkaline phosphatase, intestinal (ALPI), mRNA. 42 phosphorylation anchored to membrane|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1) 24 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746) CCTGGATGCTGCCAAGAAGCT 0.632000 4 154 0 0 1 0 0 DCAF13 25879 broad.mit.edu 37 8 104427255 104427255 + Missense_Mutation SNP G G C TCGA-ET-A2N4-01A-12D-A19J-08 TCGA-ET-A2N4-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e2107cb-8c52-4f2a-8c41-1a305c14044c c9f32c4e-5746-4269-9e5b-e8816cf87b93 g.chr8:104427255G>C uc003yln.3 + 0 314 c.37G>C c.(37-39)Gtg>Ctg p.V13L SLC25A32_uc003yll.3_5'UTR|SLC25A32_uc011lhr.2_5'UTR|DCAF13_uc003ylm.1_5'UTR NM_015420 NP_056235 Q9NV06 DCA13_HUMAN Homo sapiens DDB1 and CUL4 associated factor 13 (DCAF13), mRNA. 0 rRNA processing CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 25 GTCGCCCCTTGTGAGCGCAAC 0.697000 16 19 0 0 1 0 0 VPS53 55275 broad.mit.edu 37 17 617889 617889 + Missense_Mutation SNP G G A TCGA-ET-A2N4-01A-12D-A19J-08 TCGA-ET-A2N4-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e2107cb-8c52-4f2a-8c41-1a305c14044c c9f32c4e-5746-4269-9e5b-e8816cf87b93 g.chr17:617889G>A uc010cjo.2 - 0 208 c.61C>T c.(61-63)Ccc>Tcc p.P21S VPS53_uc002frl.2_Non-coding_Transcript|VPS53_uc002frm.2_Missense_Mutation_p.P21S|VPS53_uc002frn.2_Missense_Mutation_p.P21S|VPS53_uc002fro.2_5'UTR|VPS53_uc010cjp.1_Missense_Mutation_p.P21S NM_001128159 NP_001121631 Q5VIR6 VPS53_HUMAN Homo sapiens vacuolar protein sorting 53 homolog (S. cerevisiae) (VPS53), transcript variant 1, mRNA. 21 protein transport Golgi apparatus|endosome membrane breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1) 19 UCEC - Uterine corpus endometrioid carcinoma (25;0.0265) TGCACCTCGGGCGTGAGCTGC 0.711000 16 212 0 0 1 0 0 FOXP3 50943 broad.mit.edu 37 X 49114015 49114015 + Missense_Mutation SNP G G A TCGA-ET-A2N4-01A-12D-A19J-08 TCGA-ET-A2N4-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e2107cb-8c52-4f2a-8c41-1a305c14044c c9f32c4e-5746-4269-9e5b-e8816cf87b93 g.chrX:49114015G>A uc011mnb.2 - 2 345 c.323C>T c.(322-324)aCg>aTg p.T108M FOXP3_uc011mnc.2_Missense_Mutation_p.T108M|FOXP3_uc004dnf.4_Missense_Mutation_p.T108M|FOXP3_uc004dne.4_Missense_Mutation_p.T73M|FOXP3_uc022bwa.1_Missense_Mutation_p.T58M NM_014009 NP_054728 Q9BZS1 FOXP3_HUMAN Homo sapiens forkhead box P3 (FOXP3), transcript variant 1, mRNA. 108 B cell homeostasis|T cell homeostasis|T cell receptor signaling pathway|cerebellum development|chromatin remodeling|embryo development|myeloid cell homeostasis|negative regulation of CREB transcription factor activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell cytokine production|negative regulation of activated T cell proliferation|negative regulation of chronic inflammatory response|negative regulation of cytokine secretion|negative regulation of histone acetylation|negative regulation of histone deacetylation|negative regulation of interferon-gamma biosynthetic process|negative regulation of interferon-gamma production|negative regulation of interleukin-10 production|negative regulation of interleukin-2 biosynthetic process|negative regulation of interleukin-2 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of interleukin-6 production|negative regulation of isotype switching to IgE isotypes|negative regulation of tumor necrosis factor production|pattern specification process|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation|positive regulation of T cell anergy|positive regulation of histone acetylation|positive regulation of immature T cell proliferation in thymus|positive regulation of peripheral T cell tolerance induction|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor-beta1 production|post-embryonic development|regulation of isotype switching to IgG isotypes|response to virus|tolerance induction to self antigen cytoplasm|nucleus|transcription factor complex DNA bending activity|NF-kappaB binding|NFAT protein binding|chromatin binding|double-stranded DNA binding|histone acetyltransferase binding|histone deacetylase 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 corepressor activity|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1) 10 Ovarian(276;0.236) GGCATCCACCGTTGAGAGCTG 0.677000 3 29 0 0 1 0 0 CHMP7 91782 broad.mit.edu 37 8 23115930 23115930 + Missense_Mutation SNP G G A TCGA-ET-A2N4-01A-12D-A19J-08 TCGA-ET-A2N4-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e2107cb-8c52-4f2a-8c41-1a305c14044c c9f32c4e-5746-4269-9e5b-e8816cf87b93 g.chr8:23115930G>A uc003xdc.2 + 6 1576 c.928G>A c.(928-930)Gac>Aac p.D310N CHMP7_uc011kzs.1_Non-coding_Transcript|CHMP7_uc003xdd.2_Missense_Mutation_p.D200N|CHMP7_uc003xde.2_Missense_Mutation_p.D168N NM_152272 NP_689485 Q8WUX9 CHMP7_HUMAN Homo sapiens charged multivesicular body protein 7 (CHMP7), mRNA. 310 cellular membrane organization|late endosome to vacuole transport ESCRT III complex|cytosol protein transporter activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 11 Prostate(55;0.0513) Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632) AGGCATCCTGGACCGGATCTA 0.572000 11 531 0 0 1 0 0 HK2 3099 broad.mit.edu 37 2 75081444 75081444 + Missense_Mutation SNP C C T TCGA-ET-A2N4-01A-12D-A19J-08 TCGA-ET-A2N4-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e2107cb-8c52-4f2a-8c41-1a305c14044c c9f32c4e-5746-4269-9e5b-e8816cf87b93 g.chr2:75081444C>T uc002snd.3 + 1 2014 c.88C>T c.(88-90)Cgc>Tgc p.R30C NM_000189 NP_000180 P52789 HXK2_HUMAN Homo sapiens hexokinase 2 (HK2), mRNA. 30 Regulatory. apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane ATP binding|glucokinase activity p.R30C(2) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 43 CTACCACATGCGCCTCTCTGA 0.488000 5 570 0 0 1 0 0 ACACB 32 broad.mit.edu 37 12 109614053 109614053 + Silent SNP G G T TCGA-ET-A2N4-01A-12D-A19J-08 TCGA-ET-A2N4-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e2107cb-8c52-4f2a-8c41-1a305c14044c c9f32c4e-5746-4269-9e5b-e8816cf87b93 g.chr12:109614053G>T uc001tob.3 + 8 1541 c.1422G>T c.(1420-1422)ccG>ccT p.P474P ACACB_uc001toc.3_Silent_p.P474P NM_001093 NP_001084 O00763 ACACB_HUMAN Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA. 474 ATP-grasp.|Biotin carboxylation. acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation Golgi apparatus|cytosol|endomembrane system|membrane ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) AGGACTTCCCGATCCTTTTCA 0.478000 169 227 0 0 1 0 0 NCAPD3 23310 broad.mit.edu 37 11 134080347 134080347 + Splice_Site SNP G G A rs142896286 TCGA-ET-A2N4-01A-12D-A19J-08 TCGA-ET-A2N4-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e2107cb-8c52-4f2a-8c41-1a305c14044c c9f32c4e-5746-4269-9e5b-e8816cf87b93 g.chr11:134080347G>A uc001qhd.1 - 4 989 c.383_splice c.e4-1 p.G128_splice NCAPD3_uc010scm.1_Splice_Site|NCAPD3_uc009zda.1_Splice_Site NM_015261 NP_056076 P42695 CNDD3_HUMAN Homo sapiens non-SMC condensin II complex, subunit D3 (NCAPD3), mRNA. 128 cell division|mitotic chromosome condensation nuclear centromeric heterochromatin|nuclear condensin complex methylated histone residue binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_hematologic(175;0.127) all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227) TGGCTACACTGCCTATTCATG 0.358000 50 63 0 0 1 0 0 PDLIM3 27295 broad.mit.edu 37 4 186429465 186429465 + Missense_Mutation SNP G G A rs1141102 TCGA-ET-A2N4-01A-12D-A19J-08 TCGA-ET-A2N4-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e2107cb-8c52-4f2a-8c41-1a305c14044c c9f32c4e-5746-4269-9e5b-e8816cf87b93 g.chr4:186429465G>A uc003ixw.4 - 4 774 c.650C>T c.(649-651)aCa>aTa p.T217I PDLIM3_uc003ixx.4_Intron|PDLIM3_uc010isi.3_Intron NM_014476 NP_055291 Q53GG5 PDLI3_HUMAN Homo sapiens PDZ and LIM domain 3 (PDLIM3), transcript variant 1, mRNA. 217 T -> I (in Ref. 1; AAC16670). sarcomere zinc ion binding p.E216K(1) breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171) CATCAAAGGTGTTTCCCCTAG 0.393000 7 220 0 0 1 0 0 OR4C46 119749 broad.mit.edu 37 11 51515327 51515327 + Missense_Mutation SNP A A G TCGA-ET-A2N4-01A-12D-A19J-08 TCGA-ET-A2N4-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e2107cb-8c52-4f2a-8c41-1a305c14044c c9f32c4e-5746-4269-9e5b-e8816cf87b93 g.chr11:51515327A>G uc010ric.2 + 0 46 c.46A>G c.(46-48)Aca>Gca p.T16A NM_001004703 NP_001004703 A6NHA9 O4C46_HUMAN Homo sapiens olfactory receptor, family 4, subfamily C, member 46 (OR4C46), mRNA. 16 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 48 GCTGGGGCTTACAGAGAATCC 0.343000 5 188 0 0 1 0 0 ATP1A2 477 broad.mit.edu 37 1 160094203 160094203 + Missense_Mutation SNP T T A TCGA-ET-A2N4-01A-12D-A19J-08 TCGA-ET-A2N4-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e2107cb-8c52-4f2a-8c41-1a305c14044c c9f32c4e-5746-4269-9e5b-e8816cf87b93 g.chr1:160094203T>A uc001fvc.3 + 5 745 c.613T>A c.(613-615)Tct>Act p.S205T ATP1A2_uc001fvb.2_Missense_Mutation_p.S205T|ATP1A2_uc010piz.1_Missense_Mutation_p.S50T NM_000702 NP_000693 P50993 AT1A2_HUMAN Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA. 205 ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 69 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) CCGGATCATCTCTTCTCATGG 0.562000 13 20 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-ET-A2N4-01A-12D-A19J-08 TCGA-ET-A2N4-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e2107cb-8c52-4f2a-8c41-1a305c14044c c9f32c4e-5746-4269-9e5b-e8816cf87b93 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 63 76 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55541490 55541490 + Missense_Mutation SNP C C A TCGA-ET-A2N4-01A-12D-A19J-08 TCGA-ET-A2N4-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e2107cb-8c52-4f2a-8c41-1a305c14044c c9f32c4e-5746-4269-9e5b-e8816cf87b93 g.chr8:55541490C>A uc003xsd.1 + 3 5196 c.5048C>A c.(5047-5049)tCt>tAt p.S1683Y RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA. 1683 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TTTGGCTCTTCTGAACAGGTA 0.413000 20 219 0 0 1 0 0 GON4L 54856 broad.mit.edu 37 1 155734928 155734928 + Missense_Mutation SNP C C G TCGA-ET-A2N4-01A-12D-A19J-08 TCGA-ET-A2N4-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e2107cb-8c52-4f2a-8c41-1a305c14044c c9f32c4e-5746-4269-9e5b-e8816cf87b93 g.chr1:155734928C>G uc001flz.2 - 20 4433 c.4336G>C c.(4336-4338)Gtt>Ctt p.V1446L GON4L_uc021paz.1_Intron|GON4L_uc009wrg.1_Non-coding_Transcript|GON4L_uc001fly.1_Missense_Mutation_p.V1446L|GON4L_uc009wrh.1_Missense_Mutation_p.V1446L|GON4L_uc001fma.1_Missense_Mutation_p.V1446L|GON4L_uc001fmb.4_Missense_Mutation_p.V642L|GON4L_uc001fmc.3_Missense_Mutation_p.V1446L|GON4L_uc001fmd.4_Missense_Mutation_p.V1446L|GON4L_uc009wri.3_Missense_Mutation_p.V1032L NM_001037533 NP_001032622 Q3T8J9 GON4L_HUMAN Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA. 1446 regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 45 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) TCTGGCCCAACTGGAGTCCCC 0.502000 22 232 0 0 1 0 0 HACL1 26061 broad.mit.edu 37 3 15616558 15616558 + Missense_Mutation SNP A A G TCGA-ET-A2N4-01A-12D-A19J-08 TCGA-ET-A2N4-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e2107cb-8c52-4f2a-8c41-1a305c14044c c9f32c4e-5746-4269-9e5b-e8816cf87b93 g.chr3:15616558A>G uc003caf.3 - 9 995 c.835T>C c.(835-837)Ttt>Ctt p.F279L HACL1_uc011avr.1_Non-coding_Transcript|HACL1_uc010hep.3_Intron|HACL1_uc011avs.2_Missense_Mutation_p.F252L|HACL1_uc011avt.2_Missense_Mutation_p.F253L|HACL1_uc003cag.3_Intron|HACL1_uc011avu.2_Missense_Mutation_p.F197L NM_012260 NP_036392 Q9UJ83 HACL1_HUMAN Homo sapiens 2-hydroxyacyl-CoA lyase 1 (HACL1), mRNA. 279 fatty acid alpha-oxidation peroxisomal matrix carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1) 16 CTGGCACCAAATAACACAATT 0.318000 12 78 0 0 1 0 0