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 MBD6 114785 broad.mit.edu 37 12 57921648 57921648 + Missense_Mutation SNP A A G TCGA-EL-A3D0-01A-12D-A202-08 TCGA-EL-A3D0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4830f1eb-187d-428d-9652-492ef217f80d d52a3420-e2c5-4188-bd7e-6f11cda56e45 g.chr12:57921648A>G uc001soj.1 + 8 2478 c.2254A>G c.(2254-2256)Acc>Gcc p.T752A MBD6_uc001sok.1_Missense_Mutation_p.T619A|MBD6_uc001sol.1_Non-coding_Transcript NM_052897 NP_443129 Q96DN6 MBD6_HUMAN Homo sapiens methyl-CpG binding domain protein 6 (MBD6), mRNA. 752 Pro-rich. chromosome|nucleus DNA binding|chromatin binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1) 31 GTCTTCACTGACCAGCAGCCC 0.577000 3 238 0 0 1 0 0 DIAPH1 1729 broad.mit.edu 37 5 140908072 140908072 + Silent SNP G G C TCGA-EL-A3D0-01A-12D-A202-08 TCGA-EL-A3D0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4830f1eb-187d-428d-9652-492ef217f80d d52a3420-e2c5-4188-bd7e-6f11cda56e45 g.chr5:140908072G>C uc003llb.4 - 22 3237 c.3096C>G c.(3094-3096)ccC>ccG p.P1032P DIAPH1_uc011dbd.2_5'Flank|DIAPH1_uc003llc.4_Silent_p.P1023P|DIAPH1_uc021yep.1_Silent_p.P1032P|DIAPH1_uc021yeq.1_Silent_p.P1023P|DIAPH1_uc010jgc.1_Silent_p.P468P NM_005219 NP_005210 O60610 DIAP1_HUMAN Homo sapiens diaphanous homolog 1 (Drosophila) (DIAPH1), transcript variant 1, mRNA. 1032 FH2. regulation of microtubule-based process|sensory perception of sound cytoplasm|cytoskeleton|ruffle membrane Rho GTPase binding|actin binding|receptor binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2) 23 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGAGGACATCGGGATAGTCAT 0.498000 30 41 0 0 1 0 0 ABCA5 23461 broad.mit.edu 37 17 67287453 67287453 + Missense_Mutation SNP T T C TCGA-EL-A3D0-01A-12D-A202-08 TCGA-EL-A3D0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4830f1eb-187d-428d-9652-492ef217f80d d52a3420-e2c5-4188-bd7e-6f11cda56e45 g.chr17:67287453T>C uc002jif.2 - 10 2728 c.1510A>G c.(1510-1512)Ata>Gta p.I504V ABCA5_uc002jie.2_Non-coding_Transcript|ABCA5_uc002jig.2_Missense_Mutation_p.I504V|ABCA5_uc002jih.2_Missense_Mutation_p.I504V|ABCA5_uc010dfe.2_Missense_Mutation_p.I504V NM_018672 NP_758424 Q8WWZ7 ABCA5_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 5 (ABCA5), transcript variant 1, mRNA. 504 ABC transporter 1. cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane ATP binding|ATPase activity p.D503Y(1) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 54 Breast(10;3.72e-11) CCCTCATATATGTCAAATGAC 0.363000 9 38 0 0 1 0 0 MYO10 4651 broad.mit.edu 37 5 16769308 16769308 + Missense_Mutation SNP G G A TCGA-EL-A3D0-01A-12D-A202-08 TCGA-EL-A3D0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4830f1eb-187d-428d-9652-492ef217f80d d52a3420-e2c5-4188-bd7e-6f11cda56e45 g.chr5:16769308G>A uc003jft.4 - 9 1403 c.935C>T c.(934-936)gCa>gTa p.A312V NM_012334 NP_036466 Q9HD67 MYO10_HUMAN Homo sapiens myosin X (MYO10), mRNA. 312 Myosin head-like. axon guidance|signal transduction myosin complex ATP binding|actin binding|motor activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 86 CACGTCCATTGCCGTCTAGAA 0.373000 14 8 0 0 1 0 0 MED23 9439 broad.mit.edu 37 6 131926420 131926420 + Missense_Mutation SNP T T C TCGA-EL-A3D0-01A-12D-A202-08 TCGA-EL-A3D0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4830f1eb-187d-428d-9652-492ef217f80d d52a3420-e2c5-4188-bd7e-6f11cda56e45 g.chr6:131926420T>C uc003qcs.1 - 13 1747 c.1573A>G c.(1573-1575)Atg>Gtg p.M525V MED23_uc003qcq.3_Missense_Mutation_p.M531V|MED23_uc011eca.1_Missense_Mutation_p.M166V|MED23_uc003qct.1_Missense_Mutation_p.M531V|MED23_uc011ecb.1_Intron NM_004830 NP_004821 Q9ULK4 MED23_HUMAN Homo sapiens mediator complex subunit 23 (MED23), transcript variant 1, mRNA. 525 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor complex protein binding|transcription coactivator activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 44 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608) AGGAGGTTCATAGGTAAGGGG 0.393000 3 85 0 0 1 0 0 WDR5B 54554 broad.mit.edu 37 3 122134317 122134317 + Missense_Mutation SNP T T G rs144433176 byFrequency TCGA-EL-A3D0-01A-12D-A202-08 TCGA-EL-A3D0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4830f1eb-187d-428d-9652-492ef217f80d d52a3420-e2c5-4188-bd7e-6f11cda56e45 g.chr3:122134317T>G uc003efa.1 - 0 566 c.59A>C c.(58-60)aAt>aCt p.N20T NM_019069 NP_061942 Q86VZ2 WDR5B_HUMAN Homo sapiens WD repeat domain 5B (WDR5B), mRNA. 20 p.A19V(1) kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 13 GBM - Glioblastoma multiforme(114;0.0704) CTTGCTCTGATTGGCCGATGA 0.498000 76 103 0 0 1 0 0 PLB1 151056 broad.mit.edu 37 2 28808648 28808648 + Missense_Mutation SNP T T C TCGA-EL-A3D0-01A-12D-A202-08 TCGA-EL-A3D0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4830f1eb-187d-428d-9652-492ef217f80d d52a3420-e2c5-4188-bd7e-6f11cda56e45 g.chr2:28808648T>C uc002rmb.2 + 25 1798 c.1754T>C c.(1753-1755)cTg>cCg p.L585P PLB1_uc010ezj.2_Missense_Mutation_p.L574P|PLB1_uc002rmc.3_Missense_Mutation_p.L273P|PLB1_uc002rmd.1_Missense_Mutation_p.L95P NM_153021 NP_694566 Q6P1J6 PLB1_HUMAN Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA. 585 4 X 308-326 AA approximate repeats. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2) 69 Acute lymphoblastic leukemia(172;0.155) CCCTGTGTCCTGAAGTTTGAT 0.468000 3 99 0 0 1 0 0 DACH1 1602 broad.mit.edu 37 13 72204797 72204797 + Silent SNP A A G TCGA-EL-A3D0-01A-12D-A202-08 TCGA-EL-A3D0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4830f1eb-187d-428d-9652-492ef217f80d d52a3420-e2c5-4188-bd7e-6f11cda56e45 g.chr13:72204797A>G uc021rkj.1 - 2 1446 c.1023T>C c.(1021-1023)gcT>gcC p.A341A DACH1_uc021rkk.1_Silent_p.A341A|DACH1_uc021rkl.1_Intron NM_080759 NP_542937 Q9UI36 DACH1_HUMAN Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA. 339 Interaction with SIX6 and HDAC3 (By similarity). multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding p.A341V(1) NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) TCATTGCTTcagcaatagctg 0.393000 3 208 0 0 1 0 0 CASP4 837 broad.mit.edu 37 11 104825694 104825694 + Silent SNP C C T TCGA-EL-A3D0-01A-12D-A202-08 TCGA-EL-A3D0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4830f1eb-187d-428d-9652-492ef217f80d d52a3420-e2c5-4188-bd7e-6f11cda56e45 g.chr11:104825694C>T uc001pid.1 - 1 115 c.42G>A c.(40-42)ttG>ttA p.L14L CASP4_uc001pib.1_5'UTR|CASP4_uc009yxg.1_5'UTR|CASP4_uc010rux.1_Silent_p.L14L|CASP4_uc010ruy.1_Silent_p.L14L NM_001225 NP_150649 P49662 CASP4_HUMAN Homo sapiens caspase 4, apoptosis-related cysteine peptidase (CASP4), transcript variant alpha, mRNA. 14 CARD. apoptosis|induction of apoptosis|proteolysis intracellular cysteine-type endopeptidase activity|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2) 23 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357) CCAGGGATTCCAACACCTTAA 0.388000 27 63 0 0 1 0 0 LOC728819 728819 broad.mit.edu 37 2 43902586 43902586 + Silent SNP C C T TCGA-EL-A3D0-01A-12D-A202-08 TCGA-EL-A3D0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4830f1eb-187d-428d-9652-492ef217f80d d52a3420-e2c5-4188-bd7e-6f11cda56e45 g.chr2:43902586C>T uc010fav.1 - 0 876 c.876G>A c.(874-876)cgG>cgA p.R292R PLEKHH2_uc002rte.3_Intron|PLEKHH2_uc002rtf.3_Intron|PLEKHH2_uc010yny.2_Intron NM_001101330 NP_001094800 Homo sapiens hCG1645220 (LOC728819), mRNA. all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) ATGCCCTGAGCCGGTACAGGC 0.458000 3 38 0 0 1 0 0 GCN1L1 10985 broad.mit.edu 37 12 120572142 120572142 + Missense_Mutation SNP G G A TCGA-EL-A3D0-01A-12D-A202-08 TCGA-EL-A3D0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4830f1eb-187d-428d-9652-492ef217f80d d52a3420-e2c5-4188-bd7e-6f11cda56e45 g.chr12:120572142G>A uc001txo.3 - 52 7283 c.7270C>T c.(7270-7272)Cgg>Tgg p.R2424W NM_006836 NP_006827 Q92616 GCN1L_HUMAN Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA. 2424 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) ATGTTTTTCCGGATGACGGCA 0.592000 10 98 0 0 1 0 0 SNX22 79856 broad.mit.edu 37 15 64446698 64446698 + Silent SNP G G A rs143435068 by1000genomes TCGA-EL-A3D0-01A-12D-A202-08 TCGA-EL-A3D0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4830f1eb-187d-428d-9652-492ef217f80d d52a3420-e2c5-4188-bd7e-6f11cda56e45 g.chr15:64446698G>A uc002anc.1 + 6 632 c.573G>A c.(571-573)ccG>ccA p.P191P SNX22_uc002amz.1_3'UTR|SNX22_uc002ana.1_3'UTR|SNX22_uc002anb.1_Non-coding_Transcript|SNX22_uc021sow.1_5'Flank NM_024798 NP_079074 Q96L94 SNX22_HUMAN Homo sapiens sorting nexin 22 (SNX22), mRNA. 191 P -> L (in Ref. 2; BAB14776). cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding large_intestine(3)|lung(1)|urinary_tract(2) 6 CTCTGCCACCGATGCCCTGAT 0.572000 129 134 0 0 1 0 0 OR1J2 26740 broad.mit.edu 37 9 125273586 125273586 + Missense_Mutation SNP G G T TCGA-EL-A3D0-01A-12D-A202-08 TCGA-EL-A3D0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4830f1eb-187d-428d-9652-492ef217f80d d52a3420-e2c5-4188-bd7e-6f11cda56e45 g.chr9:125273586G>T uc004bmj.2 + 3 832 c.506G>T c.(505-507)tGt>tTt p.C169F OR1J2_uc011lyv.2_Missense_Mutation_p.C169F NM_054107 NP_473448 Q8NGS2 OR1J2_HUMAN Homo sapiens olfactory receptor, family 1, subfamily J, member 2 (OR1J2), mRNA. 169 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1) 26 CTGTCTTTCTGTGCTGCGAAC 0.522000 23 148 0 0 1 0 0 LRRC56 115399 broad.mit.edu 37 11 552111 552111 + Missense_Mutation SNP C C G TCGA-EL-A3D0-01A-12D-A202-08 TCGA-EL-A3D0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4830f1eb-187d-428d-9652-492ef217f80d d52a3420-e2c5-4188-bd7e-6f11cda56e45 g.chr11:552111C>G uc010qvz.2 + 11 1565 c.1060C>G c.(1060-1062)Ctg>Gtg p.L354V NM_198075 NP_932341 Q8IYG6 LRC56_HUMAN Homo sapiens leucine rich repeat containing 56 (LRRC56), mRNA. 354 kidney(1)|lung(4)|skin(1) 6 all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) CCCCGAGCAGCTGCCCCAACA 0.677000 33 84 0 0 1 0 0 UBXN2B 137886 broad.mit.edu 37 8 59352245 59352245 + Missense_Mutation SNP A A G TCGA-EL-A3D0-01A-12D-A202-08 TCGA-EL-A3D0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4830f1eb-187d-428d-9652-492ef217f80d d52a3420-e2c5-4188-bd7e-6f11cda56e45 g.chr8:59352245A>G uc003xtl.3 + 5 709 c.587A>G c.(586-588)gAt>gGt p.D196G NM_001077619 NP_001071087 Q14CS0 UBX2B_HUMAN Homo sapiens UBX domain protein 2B (UBXN2B), mRNA. 196 SEP. Golgi apparatus|cytosol|endoplasmic reticulum|nucleus endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 13 GTGAATTTGGATATGGAGGAT 0.383000 20 119 0 0 1 0 0 ZNF318 24149 broad.mit.edu 37 6 43325106 43325106 + Nonsense_Mutation SNP G G A TCGA-EL-A3D0-01A-12D-A202-08 TCGA-EL-A3D0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4830f1eb-187d-428d-9652-492ef217f80d d52a3420-e2c5-4188-bd7e-6f11cda56e45 g.chr6:43325106G>A uc003oux.3 - 2 1024 c.946C>T c.(946-948)Cga>Tga p.R316* ZNF318_uc003ouw.3_Non-coding_Transcript NM_014345 NP_055160 Q5VUA4 ZN318_HUMAN Homo sapiens zinc finger protein 318 (ZNF318), mRNA. 316 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding p.R316*(2) autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 61 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) TCCAGTTCTCGAAACTCAGGG 0.522000 16 55 0 0 1 0 0 FBN3 84467 broad.mit.edu 37 19 8196578 8196578 + Missense_Mutation SNP C C T TCGA-EL-A3D0-01A-12D-A202-08 TCGA-EL-A3D0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4830f1eb-187d-428d-9652-492ef217f80d d52a3420-e2c5-4188-bd7e-6f11cda56e45 g.chr19:8196578C>T uc002mjf.3 - 13 1867 c.1850G>A c.(1849-1851)cGc>cAc p.R617H NM_032447 NP_115823 Q75N90 FBN3_HUMAN Homo sapiens fibrillin 3 (FBN3), mRNA. 617 proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent p.V616V(1)|p.V616E(1) NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 GCAGGTGCTGCGCACGTGGGT 0.677000 14 62 0 0 1 0 0 MLLT10 8028 broad.mit.edu 37 10 22022990 22022990 + Silent SNP T T C TCGA-EL-A3D0-01A-12D-A202-08 TCGA-EL-A3D0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4830f1eb-187d-428d-9652-492ef217f80d d52a3420-e2c5-4188-bd7e-6f11cda56e45 g.chr10:22022990T>C uc001iqt.3 + 19 3139 c.2790T>C c.(2788-2790)ccT>ccC p.P930P MLLT10_uc001iqs.3_Silent_p.P946P|MLLT10_uc001iqv.3_Non-coding_Transcript|MLLT10_uc021pny.1_Silent_p.P930P|MLLT10_uc001ira.3_Silent_p.P387P|MLLT10_uc001irb.3_Non-coding_Transcript NM_001195626 NP_001182555 P55197 AF10_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (MLLT10), transcript variant 3, mRNA. 946 positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 CCCAGAACCCTACCCCTCTCA 0.438000 T """MLL, PICALM, CDK6""" AL 3 81 0 0 1 0 0 PRSS53 339105 broad.mit.edu 37 16 31096483 31096483 + Nonsense_Mutation SNP C C A TCGA-EL-A3D0-01A-12D-A202-08 TCGA-EL-A3D0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4830f1eb-187d-428d-9652-492ef217f80d d52a3420-e2c5-4188-bd7e-6f11cda56e45 g.chr16:31096483C>A uc002eaq.3 - 6 982 c.982G>T c.(982-984)Gga>Tga p.G328* PRSS53_uc002ear.3_Nonsense_Mutation_p.G122* NM_001039503 NP_001034592 Q2L4Q9 PRS53_HUMAN Homo sapiens protease, serine, 53 (PRSS53), mRNA. 328 Peptidase S1 2. proteolysis extracellular region serine-type endopeptidase activity large_intestine(1)|lung(3) 4 ACCAGGGCTCCGCCACAGGCC 0.667000 3 22 0 0 1 0 0 LRRC16B 90668 broad.mit.edu 37 14 24538027 24538027 + Silent SNP C C T TCGA-EL-A3D0-01A-12D-A202-08 TCGA-EL-A3D0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4830f1eb-187d-428d-9652-492ef217f80d d52a3420-e2c5-4188-bd7e-6f11cda56e45 g.chr14:24538027C>T uc001wlj.2 + 37 3991 c.3834C>T c.(3832-3834)ccC>ccT p.P1278P LRRC16B_uc001wlk.2_Silent_p.P331P|CPNE6_uc010tnv.2_5'Flank|CPNE6_uc001wlm.3_5'Flank|CPNE6_uc001wll.3_5'Flank NM_138360 NP_612369 Q8ND23 LR16B_HUMAN Homo sapiens leucine rich repeat containing 16B (LRRC16B), mRNA. 1278 breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 52 GBM - Glioblastoma multiforme(265;0.019) CATGGCCTCCCAAGCCAGTGG 0.637000 9 32 0 0 1 0 0 SLC12A5 57468 broad.mit.edu 37 20 44666024 44666024 + Splice_Site SNP G G A TCGA-EL-A3D0-01A-12D-A202-08 TCGA-EL-A3D0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4830f1eb-187d-428d-9652-492ef217f80d d52a3420-e2c5-4188-bd7e-6f11cda56e45 g.chr20:44666024G>A uc010zxl.1 + 6 757 c.681_splice c.e6+1 p.L227_splice SLC12A5_uc002xra.2_Splice_Site_p.L204_splice|SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Splice_Site_p.L204_splice NM_001134771 NP_001128243 Q9H2X9 S12A5_HUMAN Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA. 227 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 80 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) AAATCCTGCTGGTAAGAGAGG 0.582000 3 37 0 0 1 0 0 CAMKK2 10645 broad.mit.edu 37 12 121706441 121706441 + Splice_Site SNP G G A TCGA-EL-A3D0-01A-12D-A202-08 TCGA-EL-A3D0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4830f1eb-187d-428d-9652-492ef217f80d d52a3420-e2c5-4188-bd7e-6f11cda56e45 g.chr12:121706441G>A uc001tzu.3 - 5 800 c.625_splice c.e5+1 p.R209_splice CAMKK2_uc001tzt.3_Splice_Site_p.R209_splice|CAMKK2_uc001tzv.3_Splice_Site_p.R209_splice|CAMKK2_uc001tzw.3_Splice_Site_p.R209_splice|CAMKK2_uc001tzx.3_Splice_Site_p.R209_splice|CAMKK2_uc001tzy.3_Splice_Site_p.R209_splice|CAMKK2_uc001uaa.1_Splice_Site_p.R209_splice|CAMKK2_uc001uab.3_Splice_Site_p.R209_splice|CAMKK2_uc001uac.3_Splice_Site_p.R209_splice NM_006549 NP_006540 Q96RR4 KKCC2_HUMAN Homo sapiens calcium/calmodulin-dependent protein kinase kinase 2, beta (CAMKK2), transcript variant 1, mRNA. 209 Protein kinase.|RP domain. MAPKKK cascade|calcium-mediated signaling|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity cytoplasm ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) CCAAACTCACGTGGAAAGCCG 0.552000 114 154 0 0 1 0 0 ENPP2 5168 broad.mit.edu 37 8 120650732 120650732 + Silent SNP A A G TCGA-EL-A3D0-01A-12D-A202-08 TCGA-EL-A3D0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4830f1eb-187d-428d-9652-492ef217f80d d52a3420-e2c5-4188-bd7e-6f11cda56e45 g.chr8:120650732A>G uc003yos.2 - 1 155 c.69T>C c.(67-69)aaT>aaC p.N23N ENPP2_uc010mdd.2_Silent_p.N23N|ENPP2_uc003yot.2_Silent_p.N23N NM_006209 NP_006200 Q13822 ENPP2_HUMAN Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 2 (ENPP2), transcript variant 1, mRNA. 23 N -> S (in Ref. 1; AAA64785 and 5; ABW38316). G-protein coupled receptor protein signaling pathway|cellular component movement|chemotaxis|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration extracellular space|integral to plasma membrane alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4) 69 Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) CTAAGCAGATATTGACTCCAA 0.378000 38 128 0 0 1 0 0 KRTAP10-5 386680 broad.mit.edu 37 21 45999781 45999781 + Silent SNP G G A TCGA-EL-A3D0-01A-12D-A202-08 TCGA-EL-A3D0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4830f1eb-187d-428d-9652-492ef217f80d d52a3420-e2c5-4188-bd7e-6f11cda56e45 g.chr21:45999781G>A uc002zfl.1 - 0 701 c.675C>T c.(673-675)tgC>tgT p.C225C TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron NM_198694 NP_941967 P60370 KR105_HUMAN Homo sapiens keratin associated protein 10-5 (KRTAP10-5), mRNA. 225 22 X 5 AA repeats of C-C-X(3). keratin filament endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 14 ATATGGGGCGGCAGAGGAGGG 0.682000 4 165 0 0 1 0 0 C19orf29 58509 broad.mit.edu 37 19 3612148 3612148 + Missense_Mutation SNP C C A TCGA-EL-A3D0-01A-12D-A202-08 TCGA-EL-A3D0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4830f1eb-187d-428d-9652-492ef217f80d d52a3420-e2c5-4188-bd7e-6f11cda56e45 g.chr19:3612148C>A uc002lyh.3 - 9 2103 c.2050G>T c.(2050-2052)Gac>Tac p.D684Y C19orf29-AS1_uc021umw.1_Silent_p.V119V|C19orf29_uc010xho.2_Missense_Mutation_p.D143Y|C19orf29_uc010dtn.3_Missense_Mutation_p.D532Y|C19orf29_uc002lyi.4_Missense_Mutation_p.D684Y|C19orf29_uc010dto.3_Non-coding_Transcript NM_001080543 NP_067054 Q8WUQ7 CS029_HUMAN Homo sapiens chromosome 19 open reading frame 29 (C19orf29), transcript variant 1, mRNA. 684 catalytic step 2 spliceosome protein binding NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(2) 15 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18) TCGATGAGGTCGGGGTAGAAG 0.592000 47 190 0 0 1 0 0 GPR155 151556 broad.mit.edu 37 2 175335223 175335223 + Silent SNP C C T TCGA-EL-A3D0-01A-12D-A202-08 TCGA-EL-A3D0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4830f1eb-187d-428d-9652-492ef217f80d d52a3420-e2c5-4188-bd7e-6f11cda56e45 g.chr2:175335223C>T uc002uit.3 - 4 1312 c.921G>A c.(919-921)gtG>gtA p.V307V GPR155_uc002uiu.3_Silent_p.V307V|GPR155_uc002uiv.3_Silent_p.V307V|GPR155_uc010fqs.3_Silent_p.V307V NM_001033045 NP_689742 Q7Z3F1 GP155_HUMAN Homo sapiens G protein-coupled receptor 155 (GPR155), transcript variant 9, mRNA. 307 intracellular signal transduction|transmembrane transport integral to membrane breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 26 TATGGTTCACCACACTGTCGC 0.408000 5 54 0 0 1 0 0 CCL24 6369 broad.mit.edu 37 7 75441263 75441263 + Missense_Mutation SNP G G C TCGA-EL-A3D0-01A-12D-A202-08 TCGA-EL-A3D0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4830f1eb-187d-428d-9652-492ef217f80d d52a3420-e2c5-4188-bd7e-6f11cda56e45 g.chr7:75441263G>C uc011kga.2 - 2 270 c.211C>G c.(211-213)Cag>Gag p.Q71E NM_002991 NP_002982 O00175 CCL24_HUMAN Homo sapiens chemokine (C-C motif) ligand 24 (CCL24), mRNA. 71 cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of Rac GTPase activity|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|signal transduction extracellular space chemokine activity endometrium(1)|lung(2) 3 CAGAACTGCTGGCCCTTCTTG 0.612000 3 97 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EL-A3D0-01A-12D-A202-08 TCGA-EL-A3D0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4830f1eb-187d-428d-9652-492ef217f80d d52a3420-e2c5-4188-bd7e-6f11cda56e45 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 65 50 0 0 1 0 0 MYBPC2 4606 broad.mit.edu 37 19 50957538 50957538 + Silent SNP G G A TCGA-EL-A3D0-01A-12D-A202-08 TCGA-EL-A3D0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4830f1eb-187d-428d-9652-492ef217f80d d52a3420-e2c5-4188-bd7e-6f11cda56e45 g.chr19:50957538G>A uc002psf.2 + 17 1977 c.1926G>A c.(1924-1926)ccG>ccA p.P642P NM_004533 NP_004524 Q14324 MYPC2_HUMAN Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA. 642 Fibronectin type-III 1. cell adhesion|muscle filament sliding cytosol|myosin filament actin binding|structural constituent of muscle breast(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144) CAGACCCCCCGGAGGCTGTGC 0.647000 6 65 0 0 1 0 0 BEND6 221336 broad.mit.edu 37 6 56883337 56883337 + Missense_Mutation SNP T T A TCGA-EL-A3D0-01A-12D-A202-08 TCGA-EL-A3D0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4830f1eb-187d-428d-9652-492ef217f80d d52a3420-e2c5-4188-bd7e-6f11cda56e45 g.chr6:56883337T>A uc010kab.3 + 5 1417 c.831T>A c.(829-831)gaT>gaA p.D277E BEND6_uc003pdi.4_Missense_Mutation_p.D179E NM_152731 NP_689944 Q5SZJ8 BEND6_HUMAN Homo sapiens BEN domain containing 6 (BEND6), mRNA. 277 p.D277Y(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1) 17 ACTCTCAGGATATTAAATAGA 0.313000 18 32 0 0 1 0 0 EHD2 30846 broad.mit.edu 37 19 48244668 48244668 + Silent SNP C C A TCGA-EL-A3D0-01A-12D-A202-08 TCGA-EL-A3D0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4830f1eb-187d-428d-9652-492ef217f80d d52a3420-e2c5-4188-bd7e-6f11cda56e45 g.chr19:48244668C>A uc002phj.4 + 5 1861 c.1611C>A c.(1609-1611)cgC>cgA p.R537R EHD2_uc010xyu.2_Silent_p.R401R NM_014601 NP_055416 Q9NZN4 EHD2_HUMAN Homo sapiens EH-domain containing 2 (EHD2), mRNA. 537 EH. blood coagulation|endocytic recycling nucleus|plasma membrane|recycling endosome membrane ATP binding|GTP binding|GTPase activity|calcium ion binding|nucleic acid binding endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 19 all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086) OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537) CCAAGCGACGCCACAAGGGCT 0.716000 9 9 0 0 1 0 0 BCOR 54880 broad.mit.edu 37 X 39923030 39923031 + Frame_Shift_Ins INS - - T TCGA-EL-A3D0-01A-12D-A202-08 TCGA-EL-A3D0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4830f1eb-187d-428d-9652-492ef217f80d d52a3420-e2c5-4188-bd7e-6f11cda56e45 g.chrX:39923030_39923031insT uc004den.4 - 7 3969_3970 c.3677_3678insA c.(3676-3678)gatfs p.D1226fs BCOR_uc004dep.4_Frame_Shift_Ins_p.D1192fs|BCOR_uc004deo.4_Frame_Shift_Ins_p.D1174fs|BCOR_uc010nhb.3_5'Flank|BCOR_uc004dem.4_Frame_Shift_Ins_p.D1192fs NM_001123385 NP_001116857 Q6W2J9 BCOR_HUMAN Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA. 1226 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 126 CAGGTTTGCCATCTGCTGCCGA 0.540 """F, N, S, T""" RARA """retinoblastoma, AML, APL(translocation)""" oculo-facio-cardio-dental genetic 59 42 --- --- --- ---