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 NUP93 9688 broad.mit.edu 37 16 56782199 56782199 + Missense_Mutation SNP G G A TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr16:56782199G>A uc002eka.3 + 1 161 c.40G>A c.(40-42)Gaa>Aaa p.E14K NM_014669 NP_001229725 Q8N1F7 NUP93_HUMAN Homo sapiens nucleoporin 93kDa (NUP93), transcript variant 1, mRNA. 14 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding p.E14K(6)|p.A13A(1) breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 TCAGCAAGCTGAACAGCTTGC 0.517000 6 74 0 0 1 0 0 OPN4 94233 broad.mit.edu 37 10 88419672 88419672 + Missense_Mutation SNP C C A TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr10:88419672C>A uc010qmk.1 + 6 1081 c.854C>A c.(853-855)gCc>gAc p.A285D OPN4_uc001kdp.3_Missense_Mutation_p.A285D|OPN4_uc001kdq.3_Missense_Mutation_p.A274D|OPN4_uc009xsx.1_5'Flank NM_001030015 NP_001025186 Q9UHM6 OPN4_HUMAN Homo sapiens opsin 4 (OPN4), transcript variant 2, mRNA. 274 phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception integral to membrane|plasma membrane 11-cis retinal binding|G-protein coupled photoreceptor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3) 18 ACCTTCGGGGCCTGCAAGGGC 0.637000 5 61 0 0 1 0 0 FER1L6 654463 broad.mit.edu 37 8 125072866 125072866 + Silent SNP C C T TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr8:125072866C>T uc003yqw.3 + 23 3269 c.3063C>T c.(3061-3063)tgC>tgT p.C1021C AK057332_uc003yqy.1_Non-coding_Transcript NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA. 1021 integral to membrane p.C1021C(2) NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) TCATTGAGTGCGGAGGACAAG 0.547000 26 56 0 0 1 0 0 PELO 53918 broad.mit.edu 37 5 52097426 52097426 + Nonsense_Mutation SNP G G T TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr5:52097426G>T uc003jos.3 + 2 1895 c.910G>T c.(910-912)Gaa>Taa p.E304* ITGA1_uc003jou.3_Intron|ITGA1_uc003jov.3_Intron NM_015946 NP_057030 Q9BRX2 PELO_HUMAN Homo sapiens pelota homolog (Drosophila) (PELO), mRNA. 304 cell cycle|cell division|translation cytoplasm|nucleus endonuclease activity|metal ion binding|protein binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1) 11 Lung NSC(810;4.94e-05)|Breast(144;0.0848) GAAGGCCAATGAAGCCATGGC 0.502000 20 48 0 0 1 0 0 FRMD4A 55691 broad.mit.edu 37 10 13708199 13708199 + Silent SNP G G A TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr10:13708199G>A uc001ims.3 - 17 1853 c.1501C>T c.(1501-1503)Ctg>Ttg p.L501L FRMD4A_uc009xjf.1_Silent_p.L501L|FRMD4A_uc001imt.1_Silent_p.L534L NM_018027 NP_060497 Q9P2Q2 FRM4A_HUMAN Homo sapiens FERM domain containing 4A (FRMD4A), mRNA. 501 cytoplasm|cytoskeleton binding breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 41 AGTGCATTCAGATACGAGGTT 0.493000 27 87 0 0 1 0 0 DDX58 23586 broad.mit.edu 37 9 32457322 32457322 + Missense_Mutation SNP C C T TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr9:32457322C>T uc003zra.3 - 17 2734 c.2576G>A c.(2575-2577)aGa>aAa p.R859K DDX58_uc010mjj.3_Non-coding_Transcript|DDX58_uc010mji.3_Missense_Mutation_p.R788K NM_014314 NP_055129 O95786 DDX58_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 58 (DDX58), mRNA. 859 Repressor domain. detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter cytosol ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 27 LUSC - Lung squamous cell carcinoma(29;0.00813) GBM - Glioblastoma multiforme(74;0.00056) TATCTTTGCTCTTTTTTCAAA 0.398000 10 54 0 0 1 0 0 C16orf62 57020 broad.mit.edu 37 16 19711771 19711771 + Silent SNP C C T TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr16:19711771C>T uc002dgn.2 + 30 3180 c.2865C>T c.(2863-2865)ctC>ctT p.L955L C16orf62_uc002dgo.2_Silent_p.L951L|C16orf62_uc002dgp.2_Silent_p.L704L NM_020314 NP_064710 Q7Z3J2 CP062_HUMAN Homo sapiens chromosome 16 open reading frame 62 (C16orf62), mRNA. 955 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 36 AGCTGGCCCTCAGACTCCCTC 0.522000 20 35 0 0 1 0 0 DNALI1 7802 broad.mit.edu 37 1 38022591 38022591 + Missense_Mutation SNP C C T TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr1:38022591C>T uc001cbj.3 + 0 72 c.62C>T c.(61-63)tCc>tTc p.S21F SNIP1_uc010oid.2_5'Flank|SNIP1_uc001cbi.3_5'Flank|DNALI1_uc010oie.2_Non-coding_Transcript NM_003462 NP_003453 O14645 IDLC_HUMAN Homo sapiens dynein, axonemal, light intermediate chain 1 (DNALI1), mRNA. 0 cellular component movement|single fertilization axonemal dynein complex microtubule motor activity breast(1)|kidney(1)|large_intestine(2)|ovary(1) 5 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) ACTCTCGCCTCCGCCATGATT 0.637000 6 58 0 0 1 0 0 ZFC3H1 196441 broad.mit.edu 37 12 72057031 72057031 + Silent SNP A A C TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr12:72057031A>C uc001swo.2 - 0 719 c.360T>G c.(358-360)ccT>ccG p.P120P ZFC3H1_uc010sts.2_Silent_p.P120P|ZFC3H1_uc001swp.3_Silent_p.P120P|THAP2_uc001swq.3_5'Flank NM_144982 NP_659419 O60293 ZC3H1_HUMAN Homo sapiens zinc finger, C3H1-type containing (ZFC3H1), mRNA. 120 Ser-rich. RNA processing intracellular metal ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GTGAGCTCGAAGGCATCCGTA 0.657000 57 95 0 0 1 0 0 LRPPRC 10128 broad.mit.edu 37 2 44174896 44174896 + Missense_Mutation SNP C C G TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr2:44174896C>G uc002rtr.2 - 18 1997 c.1939G>C c.(1939-1941)Gag>Cag p.E647Q LRPPRC_uc010yob.1_Missense_Mutation_p.E547Q NM_133259 NP_573566 P42704 LPPRC_HUMAN Homo sapiens leucine-rich PPR-motif containing (LRPPRC), mRNA. 647 mRNA transport|mitochondrion transport along microtubule|regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm RNA binding|beta-tubulin binding|microtubule binding breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2) 41 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) TTCTTACTCTCAACCAACAAG 0.294000 4 19 0 0 1 0 0 TMEM2 23670 broad.mit.edu 37 9 74360334 74360334 + Missense_Mutation SNP C C T TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr9:74360334C>T uc011lsa.1 - 3 1174 c.634G>A c.(634-636)Gaa>Aaa p.E212K TMEM2_uc010mos.2_Missense_Mutation_p.E212K|TMEM2_uc011lsb.1_Non-coding_Transcript NM_013390 NP_037522 Q9UHN6 TMEM2_HUMAN Homo sapiens transmembrane protein 2 (TMEM2), transcript variant 1, mRNA. 212 G8. integral to membrane central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2) 56 all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255) GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16) GGCATACTTTCACCTTCATCT 0.483000 31 72 0 0 1 0 0 CARD6 84674 broad.mit.edu 37 5 40854171 40854171 + Nonsense_Mutation SNP C C T TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr5:40854171C>T uc003jmg.3 + 2 2812 c.2737C>T c.(2737-2739)Cag>Tag p.Q913* NM_032587 NP_115976 Q9BX69 CARD6_HUMAN Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA. 913 apoptosis|regulation of apoptosis intracellular NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 62 ACCTGCTTCTCAGCAAGGAGT 0.478000 11 190 0 0 1 0 0 LARGE 9215 broad.mit.edu 37 22 34046477 34046477 + Missense_Mutation SNP C C T TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr22:34046477C>T uc003and.4 - 3 863 c.284G>A c.(283-285)cGa>cAa p.R95Q LARGE_uc003ane.4_Missense_Mutation_p.R95Q|LARGE_uc010gwp.3_Missense_Mutation_p.R95Q|LARGE_uc011ame.2_Missense_Mutation_p.R27Q|LARGE_uc011amf.2_Missense_Mutation_p.R95Q NM_004737 NP_598397 O95461 LARGE_HUMAN Homo sapiens like-glycosyltransferase (LARGE), transcript variant 1, mRNA. 95 N-acetylglucosamine metabolic process|glycosphingolipid biosynthetic process|muscle cell homeostasis|protein glycosylation integral to Golgi membrane acetylglucosaminyltransferase activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(1;0.219) GTGGTTGCCTCGGCGATGGGA 0.682000 8 120 0 0 1 0 0 FSIP2 401024 broad.mit.edu 37 2 186672259 186672259 + Missense_Mutation SNP G G C TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr2:186672259G>C uc002upl.3 + 16 18493 c.18493G>C c.(18493-18495)Gat>Cat p.D6165H FSIP2_uc002upm.3_Intron NM_173651 NP_775922 Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA. NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 CTTACAATCTGATGATGATGA 0.328000 7 101 0 0 1 0 0 UBE2A 7319 broad.mit.edu 37 X 118708873 118708873 + Silent SNP G G A TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chrX:118708873G>A uc004erl.3 + 1 230 c.54G>A c.(52-54)gaG>gaA p.E18E UBE2A_uc004erm.3_Silent_p.E18E NM_003336 NP_861442 P49459 UBE2A_HUMAN Homo sapiens ubiquitin-conjugating enzyme E2A (UBE2A), transcript variant 1, mRNA. 18 histone H2A ubiquitination|positive regulation of cell proliferation|postreplication repair|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein autoubiquitination|response to UV|ubiquitin-dependent protein catabolic process ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity haematopoietic_and_lymphoid_tissue(1)|lung(7) 8 GGTTGCAGGAGGATCCTCCAG 0.692000 Rad6 pathway 29 46 0 0 1 0 0 COL4A5 1287 broad.mit.edu 37 X 107834385 107834385 + Silent SNP T T G rs104886109 TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chrX:107834385T>G uc022ccg.1 + 19 1465 c.1263T>G c.(1261-1263)ccT>ccG p.P421P COL4A5_uc004enz.1_Silent_p.P421P|COL4A5_uc004eob.1_Silent_p.P29P NM_033380 NP_203699 P29400 CO4A5_HUMAN Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA. 421 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 TTCCTGGACCTCCTGGACTTG 0.557000 Alport syndrome with Diffuse Leiomyomatosis 26 65 0 0 1 0 0 BEND7 222389 broad.mit.edu 37 10 13541899 13541899 + Silent SNP G G C TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr10:13541899G>C uc001imm.2 - 2 468 c.171C>G c.(169-171)ctC>ctG p.L57L BEND7_uc001imo.4_Silent_p.L57L NM_152751 NP_689964 Q8N7W2 BEND7_HUMAN Homo sapiens BEN domain containing 7 (BEND7), transcript variant 1, mRNA. 109 protein binding breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1) 17 AAGACGGGTGGAGGCTTTGCG 0.562000 8 115 0 0 1 0 0 KEL 3792 broad.mit.edu 37 7 142650897 142650897 + Missense_Mutation SNP C C G TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr7:142650897C>G uc003wcb.3 - 8 1281 c.1071G>C c.(1069-1071)caG>caC p.Q357H NM_000420 NP_000411 P23276 KELL_HUMAN Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA. 357 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) CGGCGAACCTCTGCTTTAGCA 0.547000 22 345 0 0 1 0 0 DPYSL5 56896 broad.mit.edu 37 2 27165613 27165613 + Missense_Mutation SNP G G C TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr2:27165613G>C uc002rhu.4 + 10 1593 c.1435G>C c.(1435-1437)Gag>Cag p.E479Q DPYSL5_uc002rhv.4_Missense_Mutation_p.E479Q|DPYSL5_uc021vev.1_Missense_Mutation_p.E479Q NM_020134 NP_064519 Q9BPU6 DPYL5_HUMAN Homo sapiens dihydropyrimidinase-like 5 (DPYSL5), transcript variant 1, mRNA. 479 axon guidance|pyrimidine base catabolic process|signal transduction cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGTCCAGAGAGAGAAGGTGAG 0.562000 OREG0014510 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 48 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39799522 39799522 + Missense_Mutation SNP C C T TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr1:39799522C>T uc021olw.1 + 0 2582 c.2582C>T c.(2581-2583)tCa>tTa p.S861L MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdb.1_Intron NM_012090 NP_036222 Q9UPN3 MACF1_HUMAN Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA. 2426 Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing Golgi apparatus|microtubule|ruffle membrane ATPase activity|actin filament binding|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) AAAAAAGTTTCAGTAACTTTG 0.433000 5 87 0 0 1 0 0 CLEC3A 10143 broad.mit.edu 37 16 78064504 78064504 + Missense_Mutation SNP G G C TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr16:78064504G>C uc002ffh.4 + 2 441 c.360G>C c.(358-360)agG>agC p.R120S CLEC3A_uc021tlr.1_Missense_Mutation_p.R68S NM_005752 NP_005743 O75596 CLC3A_HUMAN Homo sapiens C-type lectin domain family 3, member A (CLEC3A), transcript variant 1, mRNA. 120 C-type lectin. skeletal system development extracellular region sugar binding NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2) 18 ATGGTAAAAGGAGCCTGCCAG 0.488000 36 167 0 0 1 0 0 MTERFD3 80298 broad.mit.edu 37 12 107372093 107372093 + Missense_Mutation SNP C C T TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr12:107372093C>T uc001tme.1 - 1 2219 c.400G>A c.(400-402)Gag>Aag p.E134K MTERFD3_uc001tmf.1_Missense_Mutation_p.E134K|MTERFD3_uc001tmg.1_Missense_Mutation_p.E134K|MTERFD3_uc021rdh.1_Missense_Mutation_p.E134K|MTERFD3_uc001tmh.1_Missense_Mutation_p.E134K NM_025198 NP_079474 Q49AM1 MTER3_HUMAN Homo sapiens MTERF domain containing 3 (MTERFD3), transcript variant 2, mRNA. 134 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial nucleoid transcription regulatory region DNA binding breast(1)|kidney(1)|large_intestine(2)|lung(3) 7 GGAAACTGCTCTATTAACTTG 0.403000 45 85 0 0 1 0 0 DHX40 79665 broad.mit.edu 37 17 57642992 57642992 + Splice_Site SNP C C T TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr17:57642992C>T uc002ixo.1 + 1 1 c.-355_splice c.e1-1 DHX40_uc002ixn.2_5'UTR|DHX40_uc010woe.2_5'UTR Q8IX18 DHX40_HUMAN Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 40 (DHX40), transcript variant 1, mRNA. ATP binding|ATP-dependent helicase activity|nucleic acid binding endometrium(7)|large_intestine(6)|lung(6)|prostate(1) 20 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) CCCATCTCCTCAGATCGGTGG 0.662000 12 11 0 0 1 0 0 KLHDC8B 200942 broad.mit.edu 37 3 49210251 49210251 + Missense_Mutation SNP A A G TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr3:49210251A>G uc003cwh.3 + 1 284 c.49A>G c.(49-51)Atg>Gtg p.M17V KLHDC8B_uc003cwi.1_5'Flank NM_173546 NP_775817 Q8IXV7 KLD8B_HUMAN Homo sapiens kelch domain containing 8B (KLHDC8B), mRNA. 17 cytoplasm endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1) 7 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) GTTCCCCCCCATGCCCACTTG 0.632000 22 57 0 0 1 0 0 TRIM51 84767 broad.mit.edu 37 11 55658652 55658652 + Missense_Mutation SNP C C G TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr11:55658652C>G uc010rip.2 + 6 995 c.903C>G c.(901-903)ttC>ttG p.F301L TRIM51_uc010riq.2_Missense_Mutation_p.F158L NM_032681 NP_116070 Q9BSJ1 SPRY5_HUMAN Homo sapiens SPRY domain containing 5 (SPRYD5), mRNA. 301 B30.2/SPRY. intracellular zinc ion binding GTCATATCTTCCTGTGTGGAG 0.353000 16 102 0 0 1 0 0 HMOX2 3163 broad.mit.edu 37 16 4557905 4557905 + Silent SNP G G A TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr16:4557905G>A uc010bts.3 + 3 567 c.396G>A c.(394-396)caG>caA p.Q132Q HMOX2_uc002cwr.4_Silent_p.Q132Q|HMOX2_uc002cwq.4_Silent_p.Q132Q|HMOX2_uc010btt.3_Silent_p.Q132Q|HMOX2_uc002cwt.3_Silent_p.Q132Q NM_001127206 NP_002125 P30519 HMOX2_HUMAN Homo sapiens heme oxygenase (decycling) 2 (HMOX2), transcript variant 4, mRNA. 132 cellular iron ion homeostasis|heme catabolic process|heme oxidation|response to hypoxia|transmembrane transport endoplasmic reticulum membrane|microsome|plasma membrane electron carrier activity|heme oxygenase (decyclizing) activity|metal ion binding|protein binding endometrium(1)|large_intestine(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 8 NADH(DB00157) AGGCTGCCCAGAAGTACGTGG 0.607000 6 69 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72821420 72821420 + Silent SNP A A C TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr16:72821420A>C uc002fck.3 - 9 11428 c.10755T>G c.(10753-10755)tcT>tcG p.S3585S AK021563_uc002fcj.1_Intron|ZFHX3_uc002fcl.3_Silent_p.S2671S NM_006885 NP_008816 Q15911 ZFHX3_HUMAN Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA. 3585 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) ACTGCGAGGTAGATGCGGTGC 0.617000 48 80 0 0 1 0 0 CPA1 1357 broad.mit.edu 37 7 130027837 130027837 + Silent SNP G G C TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr7:130027837G>C uc003vpx.3 + 9 1317 c.1245G>C c.(1243-1245)ctG>ctC p.L415L NM_001868 NP_001859 P15085 CBPA1_HUMAN Homo sapiens carboxypeptidase A1 (pancreatic) (CPA1), mRNA. 415 proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1) 21 Melanoma(18;0.0435) AGCACACCCTGAATCACCCCT 0.567000 14 278 0 0 1 0 0 CBX5 23468 broad.mit.edu 37 12 54651351 54651351 + Missense_Mutation SNP C C A TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr12:54651351C>A uc001sfk.4 - 1 250 c.84G>T c.(82-84)agG>agT p.R28S CBX5_uc001sfh.4_Missense_Mutation_p.R28S|CBX5_uc001sfj.4_Missense_Mutation_p.R28S NM_012117 NP_036249 P45973 CBX5_HUMAN Homo sapiens chromobox homolog 5 (CBX5), transcript variant 3, mRNA. 28 Chromo 1. blood coagulation|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|nuclear centromeric heterochromatin|nuclear envelope|nucleolus|transcriptional repressor complex methylated histone residue binding|protein binding, bridging|repressing transcription factor binding p.R28M(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2) 8 TAACCACGCGCCTGTCTAGCA 0.488000 41 63 0 0 1 0 0 TMEM38A 79041 broad.mit.edu 37 19 16799102 16799102 + Missense_Mutation SNP C C G TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr19:16799102C>G uc002nes.3 + 5 911 c.820C>G c.(820-822)Cag>Gag p.Q274E NM_024074 NP_076979 Q9H6F2 TM38A_HUMAN Homo sapiens transmembrane protein 38A (TMEM38A), mRNA. 274 integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane potassium channel activity central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1) 15 GCCAGGAGCTCAGCATTCGGC 0.647000 8 170 0 0 1 0 0 SERTAD3 29946 broad.mit.edu 37 19 40947970 40947970 + Silent SNP C C T TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr19:40947970C>T uc002onu.4 - 1 296 c.18G>A c.(16-18)aaG>aaA p.K6K SERTAD3_uc002onv.4_Silent_p.K6K|SERTAD3_uc021uut.1_Silent_p.K6K NM_013368 NP_976219 Q9UJW9 SRTD3_HUMAN Homo sapiens SERTA domain containing 3 (SERTAD3), transcript variant 1, mRNA. 6 negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding kidney(1)|large_intestine(4)|lung(2) 7 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) AGTGTTTCCTCTTCAAGCCTC 0.562000 15 19 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56496024 56496024 + Missense_Mutation SNP G G A TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr6:56496024G>A uc003pcy.4 - 15 2624 c.2516C>T c.(2515-2517)tCc>tTc p.S839F DST_uc021zay.1_Missense_Mutation_p.S1205F|DST_uc021zax.1_Missense_Mutation_p.S839F|DST_uc003pdc.4_Missense_Mutation_p.S839F|DST_uc003pdd.4_Missense_Mutation_p.S839F NM_015548 NP_056363 Q03001 DYST_HUMAN Homo sapiens dystonin (DST), transcript variant 1eA, mRNA. 1165 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TATGTAAGTGGAAGACATAGA 0.318000 7 23 0 0 1 0 0 EPSTI1 94240 broad.mit.edu 37 13 43462494 43462494 + Silent SNP G G A TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr13:43462494G>A uc001uyw.1 - 12 1201 c.1125C>T c.(1123-1125)gtC>gtT p.V375V EPSTI1_uc001uyx.1_3'UTR NM_001002264 NP_001002264 Q96J88 ESIP1_HUMAN Homo sapiens epithelial stromal interaction 1 (breast) (EPSTI1), transcript variant 1, mRNA. 0 p.V375V(2) endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1) 17 Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858) AGTCACTCCTGACTGCACGGT 0.418000 30 54 0 0 1 0 0 LOX 4015 broad.mit.edu 37 5 121413255 121413255 + Silent SNP C C T TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr5:121413255C>T uc003ksu.3 - 0 801 c.426G>A c.(424-426)gcG>gcA p.A142A LOX_uc010jcq.3_5'Flank|LOX_uc010jcr.3_5'Flank|LOX_uc011cwk.2_5'Flank NM_002317 NP_002308 P28300 LYOX_HUMAN Homo sapiens lysyl oxidase (LOX), transcript variant 1, mRNA. 142 protein modification process extracellular space copper ion binding|protein-lysine 6-oxidase activity endometrium(1)|lung(6)|prostate(1) 8 all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143) KIRC - Kidney renal clear cell carcinoma(527;0.206) Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02) TCTGGTTCTCCGCGCGCGAGG 0.682000 28 38 0 0 1 0 0 C10orf62 414157 broad.mit.edu 37 10 99349675 99349675 + Missense_Mutation SNP G G C TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr10:99349675G>C uc001koa.3 + 0 226 c.21G>C c.(19-21)aaG>aaC p.K7N PI4K2A_uc001knx.2_Intron|PI4K2A_uc001kny.3_Intron|PI4K2A_uc001knz.3_Intron|PI4K2A_uc010qoy.1_Intron NM_001009997 NP_001009997 Q5T681 CJ062_HUMAN Homo sapiens chromosome 10 open reading frame 62 (C10orf62), mRNA. 7 protein binding endometrium(2)|kidney(1)|lung(1) 4 Colorectal(252;0.162) Epithelial(162;9.58e-11)|all cancers(201;8.62e-09) TTCAGAGAAAGAGGAGAAGAA 0.498000 5 88 0 0 1 0 0 GOLGA2P5 55592 broad.mit.edu 37 12 100551837 100551837 + Missense_Mutation SNP C C T TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr12:100551837C>T uc001tgs.3 - 2 460 c.16G>A c.(16-18)Gag>Aag p.E6K GOLGA2P5_uc001tgt.3_Non-coding_Transcript|GOLGA2P5_uc021rcm.1_Non-coding_Transcript Homo sapiens golgin A2 pseudogene 5 (GOLGA2P5), transcript variant 1, non-coding RNA. ACCTCCTCCTCCTCCTCACTG 0.632000 3 14 0 0 1 0 0 UBP1 7342 broad.mit.edu 37 3 33450189 33450189 + Missense_Mutation SNP C C T TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr3:33450189C>T uc003cfq.4 - 7 1450 c.920G>A c.(919-921)cGa>cAa p.R307Q UBP1_uc003cfr.4_Intron|UBP1_uc010hga.3_Missense_Mutation_p.R307Q NM_014517 NP_055332 Q9NZI7 UBIP1_HUMAN Homo sapiens upstream binding protein 1 (LBP-1a) (UBP1), transcript variant 1, mRNA. 307 negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2) 23 TACACTGCCTCGCTTTGCCAG 0.448000 5 63 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 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 24 26 0 0 1 0 0 RALGAPB 57148 broad.mit.edu 37 20 37153437 37153437 + Nonstop_Mutation SNP A A T TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr20:37153437A>T uc010zvz.1 + 9 1691 c.1434A>T c.(1432-1434)taA>taT p.*478Y RALGAPB_uc002xiw.3_Missense_Mutation_p.I546F|RALGAPB_uc002xix.3_Missense_Mutation_p.I546F|RALGAPB_uc002xiy.1_Missense_Mutation_p.I546F|RALGAPB_uc002xiz.3_Missense_Mutation_p.I324F|RALGAPB_uc002xja.1_Missense_Mutation_p.I273F Q86X10 RLGPB_HUMAN Homo sapiens Ral GTPase activating protein, beta subunit (non-catalytic) (RALGAPB), mRNA. 0 activation of Ral GTPase activity intracellular Ral GTPase activator activity|protein heterodimerization activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 CATGCTTTTAATTCAAGGTTT 0.328000 42 53 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181767468 181767468 + Missense_Mutation SNP C C G TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr1:181767468C>G uc009wxt.3 + 47 6635 c.6440C>G c.(6439-6441)tCt>tGt p.S2147C CACNA1E_uc001gow.3_Missense_Mutation_p.S2104C|CACNA1E_uc009wxs.3_Missense_Mutation_p.S2085C NM_001205293 NP_001192222 Q15878 CAC1E_HUMAN Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA. 2147 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 CCCTCTGTCTCTGACACCAGC 0.592000 13 182 0 0 1 0 0 FAM53B 9679 broad.mit.edu 37 10 126312016 126312016 + Missense_Mutation SNP A A C TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr10:126312016A>C uc001lhv.1 - 4 1587 c.1064T>G c.(1063-1065)gTc>gGc p.V355G FAM53B_uc001lhu.1_Intron NM_014661 NP_055476 Q14153 FA53B_HUMAN Homo sapiens family with sequence similarity 53, member B (FAM53B), mRNA. 355 cervix(1)|lung(5)|ovary(2)|pancreas(1) 9 all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15) AGGCTCAGGGACCGGGGTCCC 0.706000 13 11 0 0 1 0 0 MST1R 4486 broad.mit.edu 37 3 49933541 49933541 + Splice_Site SNP C C T TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr3:49933541C>T uc003cxy.4 - 11 2914 c.2650_splice c.e11-1 p.Y884_splice MST1R_uc011bdc.2_Intron NM_002447 NP_002438 Q04912 RON_HUMAN Homo sapiens macrophage stimulating 1 receptor (c-met-related tyrosine kinase) (MST1R), transcript variant 1, mRNA. 884 cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|macrophage colony-stimulating factor receptor activity|protein binding cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3) 37 BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) GCCCAATATACTGCAGAGAGG 0.577000 55 127 0 0 1 0 0 CARD6 84674 broad.mit.edu 37 5 40854298 40854298 + Missense_Mutation SNP C C G TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr5:40854298C>G uc003jmg.3 + 2 2939 c.2864C>G c.(2863-2865)tCc>tGc p.S955C NM_032587 NP_115976 Q9BX69 CARD6_HUMAN Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA. 955 apoptosis|regulation of apoptosis intracellular NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 62 GTCAAACACTCCCAGCCTAAA 0.502000 24 282 0 0 1 0 0 C2orf73 129852 broad.mit.edu 37 2 54562140 54562141 + Frame_Shift_Ins INS - - A TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr2:54562140_54562141insA uc002rxt.1 + 1 255_256 c.213_214insA c.(211-216)cccaaafs p.P71fs C2orf73_uc010yor.1_Intron|C2orf73_uc002rxs.1_Intron|C2orf73_uc010yos.1_Intron NM_001100396 NP_001093866 Q8N5S3 CB073_HUMAN Homo sapiens chromosome 2 open reading frame 73 (C2orf73), mRNA. 71 breast(2) 2 ACATAGATCCCAAAAAAGGGCC 0.332 2 4 --- --- --- --- ABCA11P 79963 broad.mit.edu 37 4 436799 436801 + In_Frame_Del DEL GAG GAG - TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr4:436799_436801delGAG uc003gaf.4 - 2 1777_1779 c.1551_1553delCTC c.(1549-1554)tcctca>tca p.517_518SS>S ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.2_Intron|ABCA11P_uc003gae.3_Intron|ABCA11P_uc010ibd.2_Intron|ABCA11P_uc003gag.3_In_Frame_Del_p.485_486SS>S|ABCA11P_uc010ibe.3_In_Frame_Del_p.473_474SS>S NM_133474 NP_597731 Homo sapiens zinc finger protein 721 (ZNF721), mRNA. AGCAAAGCTTGAGGATGAGGTAA 0.369 19 30 --- --- --- --- C9orf152 401546 broad.mit.edu 37 9 112963659 112963662 + Frame_Shift_Del DEL CAGA CAGA - TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr9:112963659_112963662delCAGA uc011lwk.2 - 1 840_843 c.286_289delTCTG c.(286-291)tctgagfs p.S96fs C9orf152_uc022blq.1_5'Flank NM_001012993 NP_001013011 Q5JTZ5 CI152_HUMAN Homo sapiens chromosome 9 open reading frame 152 (C9orf152), mRNA. 96 p.E76Q(1) NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1) 6 CCCTCCACCTCAGAATCTGCCTCT 0.554 29 54 --- --- --- --- ELMO3 79767 broad.mit.edu 37 16 67233140 67233140 + Frame_Shift_Del DEL C C - TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr16:67233140delC uc002esa.3 + 0 113 c.70delC c.(70-72)cctfs p.P24fs ELMO3_uc002esb.3_Frame_Shift_Del_p.P24fs|ELMO3_uc002esc.3_5'Flank NM_024712 NP_078988 Q96BJ8 ELMO3_HUMAN Homo sapiens engulfment and cell motility 3 (ELMO3), mRNA. 0 apoptosis|phagocytosis cytoplasm|cytoskeleton SH3 domain binding cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3) 18 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417) GGGAGGACCTCCTCGTCCCCA 0.701 14 17 --- --- --- ---