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 RANBP2 5903 broad.mit.edu 37 2 109380688 109380688 + Silent SNP C C T TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr2:109380688C>T ENST00000283195.6 + 20 3819 c.3693C>T c.(3691-3693)cgC>cgT p.R1231R NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 1231 RanBD1 1. carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 GTAAAATTCGCCTTCTAATGA 0.378000 72 291 0 0 1 0 0 AFF3 3899 broad.mit.edu 37 2 100210198 100210198 + Missense_Mutation SNP C C T TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr2:100210198C>T ENST00000317233.4 - 14 2160 c.1925G>A c.(1924-1926)cGc>cAc p.R642H AFF3_ENST00000356421.2_Missense_Mutation_p.R667H|AFF3_ENST00000409236.1_Missense_Mutation_p.R642H|AFF3_ENST00000409579.1_Missense_Mutation_p.R667H NM_002285.2 NP_002276.2 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 642 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 CACGGAGGAGCGCAGCTCCTT 0.657000 111 142 0 0 1 0 0 ASPRV1 151516 broad.mit.edu 37 2 70188473 70188473 + Nonsense_Mutation SNP C C T TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr2:70188473C>T ENST00000320256.4 - 1 924 c.348G>A c.(346-348)tgG>tgA p.W116* NM_152792.2 NP_690005.2 Q53RT3 APRV1_HUMAN aspartic peptidase, retroviral-like 1 116 protein maturation by peptide bond cleavage|skin development aspartic-type endopeptidase activity endometrium(3)|large_intestine(4)|lung(6)|ovary(1) 14 AGCTGTGCAGCCAGAGGTTTG 0.582000 94 124 0 0 1 0 0 MGA 23269 broad.mit.edu 37 15 42059147 42059147 + Missense_Mutation SNP C C G TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr15:42059147C>G ENST00000219905.7 + 24 9048 c.8867C>G c.(8866-8868)gCa>gGa p.A2956G MGA_ENST00000389936.4_Missense_Mutation_p.A2917G|MGA_ENST00000566586.1_Missense_Mutation_p.A2747G|MGA_ENST00000545763.1_Missense_Mutation_p.A2747G|MGA_ENST00000570161.1_Missense_Mutation_p.A2956G NM_001164273.1 NP_001157745.1 Q8IWI9 MGAP_HUMAN MGA, MAX dimerization protein 2917 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) GGCCTCCCTGCAGAGCCCGAA 0.483000 13 130 0 0 1 0 0 CLEC3A 10143 broad.mit.edu 37 16 78056626 78056626 + Missense_Mutation SNP C C T TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr16:78056626C>T ENST00000299642.4 + 1 215 c.130C>T c.(130-132)Cgt>Tgt p.R44C CLEC3A_ENST00000575655.1_Missense_Mutation_p.R35C|RP11-281J9.2_ENST00000563114.1_RNA NM_001244755.1 NP_001231684.1 O75596 CLC3A_HUMAN C-type lectin domain family 3, member A 35 skeletal system development extracellular region sugar binding NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2) 18 GCACAGCAAACGTCGAGTGAG 0.473000 32 95 0 0 1 0 0 KIAA0513 9764 broad.mit.edu 37 16 85109479 85109479 + Missense_Mutation SNP C C T TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr16:85109479C>T ENST00000566428.1 + 5 1164 c.533C>T c.(532-534)gCc>gTc p.A178V KIAA0513_ENST00000538274.1_Missense_Mutation_p.A178V|KIAA0513_ENST00000258180.3_Missense_Mutation_p.A178V|KIAA0513_ENST00000567328.1_Missense_Mutation_p.A178V O60268 K0513_HUMAN KIAA0513 178 cytoplasm breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1) 18 BRCA - Breast invasive adenocarcinoma(80;0.234) TTTGGGCCTGCCAAGAACCTC 0.517000 7 173 0 0 1 0 0 UGT1A6 0 broad.mit.edu 37 2 234681097 234681097 + Silent SNP C C T TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr2:234681097C>T ENST00000305139.6 + 5 1630 c.1491C>T c.(1489-1491)gtC>gtT p.V497V UGT1A1_ENST00000305208.5_Silent_p.V498V|UGT1A4_ENST00000373409.3_Silent_p.V499V|UGT1A9_ENST00000354728.4_Silent_p.V495V|UGT1A10_ENST00000344644.5_Silent_p.V495V|UGT1A5_ENST00000373414.3_Silent_p.V499V|UGT1A3_ENST00000482026.1_Silent_p.V499V|UGT1A6_ENST00000373424.1_Silent_p.V230V|UGT1A7_ENST00000373426.3_Silent_p.V495V|UGT1A8_ENST00000373450.4_Silent_p.V495V NM_001072.3 NP_001063.2 central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1) 22 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702) TCTTGGCCGTCGTGCTGACAG 0.542000 203 244 0 0 1 0 0 FARS2 10667 broad.mit.edu 37 6 5771561 5771561 + Missense_Mutation SNP C C A TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr6:5771561C>A ENST00000324331.6 + 7 1591 c.1255C>A c.(1255-1257)Cgc>Agc p.R419S FARS2_ENST00000274680.4_Missense_Mutation_p.R419S O95363 SYFM_HUMAN phenylalanyl-tRNA synthetase 2, mitochondrial 419 FDX-ACB. phenylalanyl-tRNA aminoacylation|tRNA processing mitochondrial matrix|soluble fraction ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2) 15 Ovarian(93;0.11) all_hematologic(90;0.0104) L-Phenylalanine(DB00120) CATCACGTACCGCCACATGGA 0.592000 108 113 1.01947e-62 1.1705e-62 1 1 0 NLRP13 126204 broad.mit.edu 37 19 56424179 56424179 + Missense_Mutation SNP C C A TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr19:56424179C>A ENST00000588751.1 - 5 1028 c.1004G>T c.(1003-1005)tGg>tTg p.W335L NLRP13_ENST00000342929.3_Missense_Mutation_p.W335L Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 335 NACHT. ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) CTCCTGGTACCAGTCTGTACA 0.463000 170 319 2.92728e-61 3.34033e-61 1 1 0 TRDN 10345 broad.mit.edu 37 6 123824955 123824955 + Silent SNP A A G TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr6:123824955A>G ENST00000334268.4 - 8 1019 c.702T>C c.(700-702)gcT>gcC p.A234A TRDN_ENST00000398178.3_Silent_p.A234A|TRDN_ENST00000546248.1_Silent_p.A234A Q13061 TRDN_HUMAN triadin 234 muscle contraction integral to membrane|plasma membrane|sarcoplasmic reticulum membrane receptor binding NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 41 GBM - Glioblastoma multiforme(226;0.184) TTACTTTTGCAGCTGTTTGCT 0.368000 4 91 0 0 1 0 0 HSP90AB1 3326 broad.mit.edu 37 6 44220861 44220861 + Missense_Mutation SNP G G A TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr6:44220861G>A ENST00000371554.1 + 11 2025 c.1811G>A c.(1810-1812)cGg>cAg p.R604Q HSP90AB1_ENST00000353801.3_Missense_Mutation_p.R604Q|HSP90AB1_ENST00000371646.5_Missense_Mutation_p.R604Q P08238 HS90B_HUMAN heat shock protein 90kDa alpha (cytosolic), class B member 1 604 axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein cytosol|melanosome ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2) 33 all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) AATATGGAGCGGATCATGAAA 0.527000 9 447 0 0 1 0 0 SNX7 51375 broad.mit.edu 37 1 99167440 99167440 + Missense_Mutation SNP A A G TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr1:99167440A>G ENST00000370189.5 + 8 1278 c.914A>G c.(913-915)aAa>aGa p.K305R SNX7_ENST00000529992.1_Missense_Mutation_p.K314R|SNX7_ENST00000306121.3_Missense_Mutation_p.K369R Q9UNH6 SNX7_HUMAN sorting nexin 7 305 cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding|protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2) 13 all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137) Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234) TTGACCTATAAAAAGGCAGAT 0.308000 110 487 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593016 96593016 + Missense_Mutation SNP C C A rs79307257 by1000genomes TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr2:96593016C>A ENST00000456556.1 - 28 1969 c.1885G>T c.(1885-1887)Gat>Tat p.D629Y ankyrin repeat domain 36C p.D629Y(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 GAAACAGAATCTTTCTCATCA 0.318000 8 283 2.23348e-06 2.32083e-06 1 1 0 RTN1 6252 broad.mit.edu 37 14 60212959 60212959 + Nonsense_Mutation SNP A A T TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr14:60212959A>T ENST00000267484.5 - 2 817 c.482T>A c.(481-483)tTa>tAa p.L161* NM_021136.2 NP_066959.1 Q16799 RTN1_HUMAN reticulon 1 161 neuron differentiation integral to endoplasmic reticulum membrane signal transducer activity central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(108;0.0968) AGAACTAAATAAGCCACGAGA 0.517000 37 439 0 0 1 0 0 FANK1 92565 broad.mit.edu 37 10 127677374 127677374 + Missense_Mutation SNP A A G rs2280173 by1000genomes TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr10:127677374A>G ENST00000449042.2 + 4 601 c.428A>G c.(427-429)aAt>aGt p.N143S FANK1_ENST00000368689.1_Intron|FANK1_ENST00000368695.1_Intron|FANK1_ENST00000368693.1_Intron Q8TC84 FANK1_HUMAN fibronectin type III and ankyrin repeat domains 1 0 cytoplasm|nucleus central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1) 21 all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936) AAACACTGCAATAATATTTGC 0.378000 4 88 0 0 1 0 0 PLXNB1 5364 broad.mit.edu 37 3 48452387 48452387 + Missense_Mutation SNP A A C TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr3:48452387A>C ENST00000358536.4 - 29 5575 c.5306T>G c.(5305-5307)gTg>gGg p.V1769G PLXNB1_ENST00000456774.1_Missense_Mutation_p.V1586G|PLXNB1_ENST00000358459.4_Missense_Mutation_p.V1586G|PLXNB1_ENST00000448774.2_Missense_Mutation_p.V380G|PLXNB1_ENST00000296440.6_Missense_Mutation_p.V1769G NM_002673.4 NP_002664.2 O43157 PLXB1_HUMAN plexin B1 1769 axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) TAGGACCTTCACGGGCACGCC 0.597000 16 104 0 0 1 0 0 NBEA 26960 broad.mit.edu 37 13 35630161 35630161 + Silent SNP C C T TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr13:35630161C>T ENST00000540320.1 + 7 1521 c.987C>T c.(985-987)agC>agT p.S329S NBEA_ENST00000400445.3_Silent_p.S329S|NBEA_ENST00000379939.2_Silent_p.S329S|NBEA_ENST00000310336.4_Silent_p.S329S Q8NFP9 NBEA_HUMAN neurobeachin 329 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) ACATGATCAGCATTGTCCACA 0.318000 7 225 0 0 1 0 0 CCR10 2826 broad.mit.edu 37 17 40831612 40831612 + Missense_Mutation SNP A A C TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr17:40831612A>C ENST00000591765.1 - 2 1767 c.382T>G c.(382-384)Tca>Gca p.S128A CCR10_ENST00000332438.4_Missense_Mutation_p.S350A P46092 CCR10_HUMAN chemokine (C-C motif) receptor 10 350 integral to plasma membrane lung(1)|ovary(1)|skin(1) 3 Breast(137;0.000153) BRCA - Breast invasive adenocarcinoma(366;0.14) GTGGGAGCTGAGCAGGAAGAA 0.697000 22 115 0 0 1 0 0 CSPG4 1464 broad.mit.edu 37 15 75982360 75982360 + Missense_Mutation SNP G G A TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr15:75982360G>A ENST00000308508.5 - 3 1138 c.1046C>T c.(1045-1047)gCc>gTc p.A349V NM_001897.4 NP_001888.2 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 349 Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2.|Neurite growth inhibition (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4) 48 CAGCAGGGAGGCATTGGTGGC 0.667000 8 107 0 0 1 0 0 DNM1P47 0 broad.mit.edu 37 15 102304770 102304770 + RNA SNP C C T rs62026988 by1000genomes TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr15:102304770C>T ENST00000561463.1 + 0 12816 GGCACAGCGGCGTGACGAGAC 0.592000 4 72 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 167760152 167760152 + Missense_Mutation SNP C C G TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr2:167760152C>G ENST00000409195.1 + 2 249 c.160C>G c.(160-162)Cct>Gct p.P54A XIRP2_ENST00000420519.1_Missense_Mutation_p.P54A|XIRP2_ENST00000409756.2_Missense_Mutation_p.P54A|XIRP2_ENST00000409043.1_Missense_Mutation_p.P54A|XIRP2_ENST00000409728.1_Missense_Mutation_p.P54A|XIRP2_ENST00000295237.9_Missense_Mutation_p.P54A NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 0 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 AGTATCAGCACCTCAATCTTT 0.483000 116 104 0 0 1 0 0 ANKS1A 23294 broad.mit.edu 37 6 35050548 35050548 + Silent SNP C C T TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr6:35050548C>T ENST00000360359.3 + 18 2928 c.2790C>T c.(2788-2790)caC>caT p.H930H ANKS1A_ENST00000535627.1_Intron NM_015245.2 NP_056060.2 Q92625 ANS1A_HUMAN ankyrin repeat and sterile alpha motif domain containing 1A 930 cytoplasm protein binding cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 GTTGGCAACACCAGCCAGAGA 0.632000 11 195 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 10 313 0 0 1 0 0 NCOR2 9612 broad.mit.edu 37 12 124825185 124825185 + Silent SNP G G A TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr12:124825185G>A ENST00000356219.3 - 36 5477 c.5322C>T c.(5320-5322)ccC>ccT p.P1774P NCOR2_ENST00000429285.2_Silent_p.P1757P|NCOR2_ENST00000405201.1_Silent_p.P1767P|NCOR2_ENST00000404621.1_Silent_p.P1757P|NCOR2_ENST00000404121.2_Silent_p.P1328P|NCOR2_ENST00000397355.1_Silent_p.P1758P NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 1775 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) GGCTGCTGAAGGGCTGGGGCG 0.716000 11 33 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56393693 56393693 + Nonsense_Mutation SNP G G A TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr6:56393693G>A ENST00000370754.5 - 67 17532 c.17533C>T c.(17533-17535)Caa>Taa p.Q5845* DST_ENST00000361203.3_Nonsense_Mutation_p.Q5556*|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Nonsense_Mutation_p.Q3579*|DST_ENST00000446842.2_Nonsense_Mutation_p.Q5341*|DST_ENST00000340834.4_5'UTR|DST_ENST00000244364.6_Nonsense_Mutation_p.Q3253*|DST_ENST00000370788.2_Nonsense_Mutation_p.Q3470*|DST_ENST00000370769.4_Nonsense_Mutation_p.Q5667* Q03001 DYST_HUMAN dystonin 5665 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 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|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus 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) TCTACATTTTGTTTCCTGAGT 0.338000 9 22 0 0 1 0 0 ATP6V0A2 23545 broad.mit.edu 37 12 124242536 124242536 + Missense_Mutation SNP G G C TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr12:124242536G>C ENST00000330342.3 + 20 2776 c.2528G>C c.(2527-2529)aGt>aCt p.S843T ATP6V0A2_ENST00000544833.1_Missense_Mutation_p.S125T|ATP6V0A2_ENST00000543687.1_3'UTR NM_012463.3 NP_036595.2 Q9Y487 VPP2_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a2 843 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain hydrogen ion transmembrane transporter activity|protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775) TTCTCATTCAGTCTACTTTCA 0.348000 12 148 0 0 1 0 0 ATM 472 broad.mit.edu 37 11 108124539 108124539 + Splice_Site SNP A A C TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr11:108124539A>C ENST00000278616.4 + 13 2283 c.e13-1 ATM_ENST00000452508.2_Splice_Site NM_000051.3 NP_000042.3 Q13315 ATM_HUMAN ataxia telangiectasia mutated cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) ACTTTCTTGAAGTGAACACCA 0.294000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 99 65 0 0 1 0 0 DNMT3A 1788 broad.mit.edu 37 2 25467064 25467064 + Missense_Mutation SNP C C T TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr2:25467064C>T ENST00000264709.3 - 15 2148 c.1811G>A c.(1810-1812)cGg>cAg p.R604Q DNMT3A_ENST00000321117.5_Missense_Mutation_p.R604Q|DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000402667.1_Missense_Mutation_p.R381Q|DNMT3A_ENST00000380746.4_Missense_Mutation_p.R415Q NM_175629.2 NP_783328.1 Q9Y6K1 DNM3A_HUMAN DNA (cytosine-5-)-methyltransferase 3 alpha 604 ADD. regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 1021 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CATCTGGAGCCGGGAGGGCCA 0.632000 """Mis, F, N, S""" AML 39 154 0 0 1 0 0 ZNF611 81856 broad.mit.edu 37 19 53209243 53209243 + Silent SNP T T C TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr19:53209243T>C ENST00000543227.1 - 6 1339 c.1065A>G c.(1063-1065)caA>caG p.Q355Q ZNF611_ENST00000602162.1_Silent_p.Q286Q|ZNF611_ENST00000319783.1_Silent_p.Q355Q|ZNF611_ENST00000595798.1_Silent_p.Q286Q|ZNF611_ENST00000453741.2_Silent_p.Q286Q|ZNF611_ENST00000540744.1_Silent_p.Q355Q NM_001161499.1 NP_001154971.1 Q8N823 ZN611_HUMAN zinc finger protein 611 355 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04) AAAGTTGTGATTGTTGATTAA 0.343000 197 337 0 0 1 0 0 MST1L 0 broad.mit.edu 37 1 17083650 17083650 + RNA SNP A A G TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr1:17083650A>G ENST00000455405.2 - 0 938 ttaaatctcaaccttgagtac 0.388000 7 230 0 0 1 0 0 ABHD1 84696 broad.mit.edu 37 2 27351452 27351452 + Silent SNP C C T TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr2:27351452C>T ENST00000316470.4 + 2 372 c.258C>T c.(256-258)ccC>ccT p.P86P NM_032604.3 NP_115993.3 Q96SE0 ABHD1_HUMAN abhydrolase domain containing 1 86 integral to membrane carboxylesterase activity endometrium(1)|kidney(1)|lung(3) 5 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGTCTCAGCCCCTAGTCCTTT 0.473000 176 240 0 0 1 0 0 FBXL16 146330 broad.mit.edu 37 16 744694 744694 + Missense_Mutation SNP G G T TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr16:744694G>T ENST00000397621.1 - 5 1562 c.1231C>A c.(1231-1233)Caa>Aaa p.Q411K FBXL16_ENST00000324361.5_Missense_Mutation_p.Q411K|FBXL16_ENST00000562585.1_5'UTR|FBXL16_ENST00000562563.1_Missense_Mutation_p.Q199K NM_153350.3 NP_699181.2 Q8N461 FXL16_HUMAN F-box and leucine-rich repeat protein 16 411 endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1) 10 Hepatocellular(780;0.0218) CCGAAGTCTTGCACCTGTCGG 0.657000 4 51 0.00909568 0.00914485 1 1 0 DNAJB7 150353 broad.mit.edu 37 22 41257516 41257516 + Silent SNP A A G TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr22:41257516A>G ENST00000307221.4 - 1 614 c.483T>C c.(481-483)ggT>ggC p.G161G XPNPEP3_ENST00000414396.1_Intron|XPNPEP3_ENST00000482652.1_Intron|XPNPEP3_ENST00000541156.1_Intron|XPNPEP3_ENST00000357137.4_Intron NM_145174.1 NP_660157.1 Q7Z6W7 DNJB7_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 7 161 protein folding heat shock protein binding|unfolded protein binding breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 10 GCCCCAATGAACCCTGTGATG 0.378000 115 555 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90160926 90160926 + RNA SNP G G A TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr16:90160926G>A ENST00000564451.1 + 0 877 TUBB8P7_ENST00000567960.1_RNA ATGCCCTCCCGCCCCACGCAG 0.726000 23 65 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522786 95522786 + RNA SNP T T C TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr2:95522786T>C ENST00000432432.2 - 0 241 NR_040113.1 p.K44K(1) CGGCGTCGCCTTTGACAGCTG 0.687000 6 222 0 0 1 0 0 TMEM260 54916 broad.mit.edu 37 14 57085396 57085396 + Nonsense_Mutation SNP C C T TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr14:57085396C>T ENST00000261556.6 + 10 1263 c.1141C>T c.(1141-1143)Cga>Tga p.R381* TMEM260_ENST00000553335.1_3'UTR|TMEM260_ENST00000536419.1_5'UTR|TMEM260_ENST00000538838.1_Nonsense_Mutation_p.R381* NM_017799.3 NP_060269.3 transmembrane protein 260 TGAGACTAACCGAGTGCTGAA 0.443000 71 304 0 0 1 0 0 B3GNT8 374907 broad.mit.edu 37 19 41931793 41931793 + Silent SNP G G A rs147647792 TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr19:41931793G>A ENST00000321702.2 - 3 1344 c.891C>T c.(889-891)ttC>ttT p.F297F CTC-435M10.6_ENST00000598887.1_RNA NM_198540.2 NP_940942.1 Q7Z7M8 B3GN8_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 297 poly-N-acetyllactosamine biosynthetic process|protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity|protein N-acetylglucosaminyltransferase activity cervix(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2) 11 AGCCACCTTCGAAGAAGGACT 0.667000 7 232 0 0 1 0 0 THAP2 83591 broad.mit.edu 37 12 72068117 72068117 + Missense_Mutation SNP G G A TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr12:72068117G>A ENST00000308086.2 + 2 1707 c.206G>A c.(205-207)cGa>cAa p.R69Q RP11-293I14.2_ENST00000548802.1_Missense_Mutation_p.R45Q NM_031435.3 NP_113623.1 Q9H0W7 THAP2_HUMAN THAP domain containing, apoptosis associated protein 2 69 nucleolus DNA binding|metal ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1) 10 GGACAAACTCGACGACTTAAA 0.373000 20 776 0 0 1 0 0 ANXA11 311 broad.mit.edu 37 10 81928927 81928927 + Missense_Mutation SNP T T C TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr10:81928927T>C ENST00000438331.1 - 6 841 c.359A>G c.(358-360)tAt>tGt p.Y120C ANXA11_ENST00000537102.1_Missense_Mutation_p.Y87C|ANXA11_ENST00000372231.3_Missense_Mutation_p.Y120C|ANXA11_ENST00000535999.1_Missense_Mutation_p.Y120C|ANXA11_ENST00000360615.4_Missense_Mutation_p.Y120C|ANXA11_ENST00000422982.3_Missense_Mutation_p.Y120C|ANXA11_ENST00000265447.4_Missense_Mutation_p.Y120C NM_145869.1 NP_665876.1 P50995 ANX11_HUMAN annexin A11 120 cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1) 17 Prostate(51;0.00985)|all_epithelial(25;0.0951) Colorectal(32;0.109) GTATGGCGGATATGAGGGCAT 0.692000 22 42 0 0 1 0 0 RETSAT 54884 broad.mit.edu 37 2 85571180 85571180 + Missense_Mutation SNP G G A rs149307146 by1000genomes TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr2:85571180G>A ENST00000295802.4 - 9 1587 c.1475C>T c.(1474-1476)tCc>tTc p.S492F RETSAT_ENST00000475624.2_Intron|RETSAT_ENST00000457495.2_Missense_Mutation_p.S431F|RETSAT_ENST00000263854.6_Intron NM_017750.3 NP_060220.3 Q6NUM9 RETST_HUMAN retinol saturase (all-trans-retinol 13,14-reductase) 492 retinol metabolic process endoplasmic reticulum membrane|nuclear outer membrane all-trans-retinol 13,14-reductase activity|electron carrier activity p.S492F(1) NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 30 Vitamin A(DB00162) TTCCACAAAGGAGTTTTTGAA 0.537000 9 414 0 0 1 0 0 COQ6 51004 broad.mit.edu 37 14 74424980 74424980 + Splice_Site SNP G G T TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr14:74424980G>T ENST00000334571.2 + 5 652 c.612_splice c.e5+1 p.L204_splice COQ6_ENST00000394026.4_Splice_Site_p.L179_splice|COQ6_ENST00000238709.4_Splice_Site_p.L129_splice|ENTPD5_ENST00000557325.1_3'UTR|COQ6_ENST00000554920.1_Intron NM_182476.2 NP_872282.1 Q9Y2Z9 COQ6_HUMAN coenzyme Q6 monooxygenase 204 ubiquinone biosynthetic process mitochondrion flavin adenine dinucleotide 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(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 16 BRCA - Breast invasive adenocarcinoma(234;0.00337) CCAAATTGTTGGTAGTTGAAG 0.418000 19 279 1.56452e-12 1.66287e-12 1 1 0 TCERG1L 256536 broad.mit.edu 37 10 133106511 133106511 + Silent SNP C C T rs144369307 byFrequency TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr10:133106511C>T ENST00000368642.4 - 3 718 c.633G>A c.(631-633)ccG>ccA p.P211P NM_174937.3 NP_777597.2 Q5VWI1 TCRGL_HUMAN transcription elongation regulator 1-like 211 cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 31 all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09) all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276) CCGTGGGGAGCGGCCTGGAGG 0.493000 9 99 0 0 1 0 0 IGF2BP3 10643 broad.mit.edu 37 7 23352422 23352422 + Missense_Mutation SNP G G A rs78711689 TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr7:23352422G>A ENST00000258729.3 - 14 1929 c.1573C>T c.(1573-1575)Cgt>Tgt p.R525C NM_006547.2 NP_006538.2 O00425 IF2B3_HUMAN insulin-like growth factor 2 mRNA binding protein 3 525 KH 4. anatomical structure morphogenesis|negative regulation of translation|translation cytosol|nucleus mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity p.R525C(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1) 34 GTCTGGTCACGAGGGACAACA 0.388000 5 210 0 0 1 0 0 OTUD4 54726 broad.mit.edu 37 4 146059041 146059041 + Silent SNP A A G TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr4:146059041A>G ENST00000454497.2 - 21 2828 c.2691T>C c.(2689-2691)caT>caC p.H897H OTUD4_ENST00000447906.2_Silent_p.H962H|OTUD4_ENST00000455611.2_Intron NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 961 protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) GAGTGGGAGGATGAGCCTTTC 0.478000 17 846 0 0 1 0 0 SEC62 7095 broad.mit.edu 37 3 169710773 169710773 + Silent SNP A A G TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr3:169710773A>G ENST00000337002.4 + 8 1180 c.1122A>G c.(1120-1122)caA>caG p.Q374Q SEC62_ENST00000480708.1_Silent_p.Q374Q NM_003262.3 NP_003253.1 Q99442 SEC62_HUMAN SEC62 homolog (S. cerevisiae) 374 cotranslational protein targeting to membrane|transmembrane transport aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum protein transporter activity|receptor activity NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1) 9 TGGAACAGCAAACAGATGGGG 0.403000 9 140 0 0 1 0 0 MYRIP 25924 broad.mit.edu 37 3 40208373 40208373 + Missense_Mutation SNP G G A TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr3:40208373G>A ENST00000302541.6 + 6 929 c.587G>A c.(586-588)cGg>cAg p.R196Q MYRIP_ENST00000444716.1_Missense_Mutation_p.R196Q|MYRIP_ENST00000425621.1_Missense_Mutation_p.R196Q|MYRIP_ENST00000539167.1_Missense_Mutation_p.R9Q|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000396217.3_Missense_Mutation_p.R107Q NM_015460.2 NP_056275.2 Q8NFW9 MYRIP_HUMAN myosin VIIA and Rab interacting protein 196 Myosin-binding. intracellular protein transport actin binding|zinc ion binding p.R196L(1) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206) GTGGCCCTACGGGTGGCTGAA 0.517000 52 247 0 0 1 0 0 EXD1 161829 broad.mit.edu 37 15 41501725 41501725 + Missense_Mutation SNP G G A rs144824409 TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr15:41501725G>A ENST00000314992.5 - 5 524 c.334C>T c.(334-336)Cgc>Tgc p.R112C EXD1_ENST00000458580.2_Missense_Mutation_p.R170C NM_152596.2 NP_689809.2 Q8NHP7 EXD1_HUMAN exonuclease 3'-5' domain containing 1 112 3'-5' exonuclease. nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2) 16 TTGCCATGGCGACATACATTC 0.383000 76 53 0 0 1 0 0 DAO 1610 broad.mit.edu 37 12 109278890 109278890 + Silent SNP G G A TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr12:109278890G>A ENST00000228476.3 + 2 312 c.108G>A c.(106-108)gcG>gcA p.A36A DAO_ENST00000551281.1_Silent_p.A36A NM_001917.4 NP_001908.3 P14920 OXDA_HUMAN D-amino-acid oxidase 36 glyoxylate metabolic process peroxisomal matrix binding|D-amino-acid oxidase activity NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1) 26 AGGTCTACGCGGACCGCTTCA 0.622000 95 286 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126373660 126373660 + Missense_Mutation SNP G G A TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr4:126373660G>A ENST00000394329.3 + 9 11502 c.11489G>A c.(11488-11490)cGt>cAt p.R3830H FAT4_ENST00000335110.5_Missense_Mutation_p.R2128H NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 3830 EGF-like 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 TTAAAAAGCCGTGAGAGTCTT 0.483000 48 249 0 0 1 0 0 ZBTB7A 51341 broad.mit.edu 37 19 4048140 4048140 + Missense_Mutation SNP G G C TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr19:4048140G>C ENST00000322357.4 - 3 1643 c.1365C>G c.(1363-1365)aaC>aaG p.N455K ZBTB7A_ENST00000601588.1_Missense_Mutation_p.N455K NM_015898.2 NP_056982.1 O95365 ZBT7A_HUMAN zinc finger and BTB domain containing 7A 455 cell differentiation|multicellular organismal development|transcription, DNA-dependent nucleus DNA binding|histone acetyltransferase binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 14 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18) CGCGCATGTGGTTCTTCAGGT 0.627000 85 203 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113166766 113166766 + Missense_Mutation SNP C C G TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr9:113166766C>G ENST00000401783.2 - 39 9843 c.9507G>C c.(9505-9507)tgG>tgC p.W3169C SVEP1_ENST00000297826.5_Missense_Mutation_p.W1095C|SVEP1_ENST00000374469.1_Missense_Mutation_p.W3146C NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 3169 Sushi 29. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 TCTCAGGGAACCAGCGACCAT 0.418000 411 791 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664056 22664056 + RNA SNP T T C rs3178309 TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr22:22664056T>C ENST00000426066.1 + 0 623 NR_027293.1 ATAAAGTATATGATTTTGTGT 0.348000 12 217 0 0 1 0 0 KBTBD12 166348 broad.mit.edu 37 3 127642283 127642283 + Missense_Mutation SNP C C A TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr3:127642283C>A ENST00000405109.1 + 2 846 c.379C>A c.(379-381)Cac>Aac p.H127N KBTBD12_ENST00000343941.4_5'UTR|KBTBD12_ENST00000407609.3_Intron|KBTBD12_ENST00000405256.1_Missense_Mutation_p.H127N Q3ZCT8 KBTBC_HUMAN kelch repeat and BTB (POZ) domain containing 12 127 endometrium(1)|large_intestine(6)|lung(5)|ovary(1) 13 TATGATGGACCACATGGATGC 0.363000 31 115 1.88708e-17 2.01723e-17 1 1 0 ANKRD36C 400986 broad.mit.edu 37 2 96593025 96593025 + Missense_Mutation SNP C C T rs75189823 by1000genomes TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr2:96593025C>T ENST00000456556.1 - 28 1960 c.1876G>A c.(1876-1878)Gat>Aat p.D626N ankyrin repeat domain 36C p.D626N(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TCTTTCTCATCACTTGTAGCC 0.318000 8 275 0 0 1 0 0 FAM184A 79632 broad.mit.edu 37 6 119295669 119295669 + Missense_Mutation SNP C C T TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr6:119295669C>T ENST00000338891.7 - 14 3282 c.2839G>A c.(2839-2841)Gag>Aag p.E947K RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000368475.4_Intron|FAM184A_ENST00000521531.1_Intron|FAM184A_ENST00000352896.5_Intron NM_024581.4 NP_078857.5 Q8NB25 F184A_HUMAN family with sequence similarity 184, member A 947 breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5) 52 ATATTTTTCTCTCTGAGGTGG 0.333000 214 557 0 0 1 0 0 LPHN1 22859 broad.mit.edu 37 19 14274079 14274079 + Silent SNP G G A TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr19:14274079G>A ENST00000340736.6 - 6 846 c.549C>T c.(547-549)cgC>cgT p.R183R LPHN1_ENST00000361434.3_Silent_p.R178R|CTB-55O6.12_ENST00000592086.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA|LPHN1_ENST00000591528.1_5'UTR NM_001008701.2 NP_001008701.1 O94910 LPHN1_HUMAN latrophilin 1 183 Olfactomedin-like. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 GTGTGTCCGTGCGGTAGGGGA 0.652000 8 204 0 0 1 0 0 ARHGAP20 57569 broad.mit.edu 37 11 110494918 110494918 + Silent SNP G G C TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr11:110494918G>C ENST00000260283.4 - 5 755 c.471C>G c.(469-471)ggC>ggG p.G157G ARHGAP20_ENST00000527598.1_Silent_p.G121G|ARHGAP20_ENST00000524756.1_Silent_p.G134G|ARHGAP20_ENST00000533353.1_Silent_p.G131G|ARHGAP20_ENST00000357139.3_Silent_p.G131G|ARHGAP20_ENST00000528829.1_Silent_p.G121G NM_020809.3 NP_065860.2 Q9P2F6 RHG20_HUMAN Rho GTPase activating protein 20 157 PH. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 60 all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475) CTGTGGGCCAGCCCAAAACAA 0.393000 69 64 0 0 1 0 0 FAM86JP 0 broad.mit.edu 37 3 125647396 125647396 + RNA SNP T T C TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr3:125647396T>C ENST00000485843.1 + 0 541 NR_024251.1 TGTTTCCCTATGAAGAGCACT 0.502000 13 676 0 0 1 0 0 MYO3B 140469 broad.mit.edu 37 2 171242714 171242714 + Missense_Mutation SNP G G A TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr2:171242714G>A ENST00000334231.6 + 13 1333 c.1333G>A c.(1333-1335)Gga>Aga p.G445R MYO3B_ENST00000409044.3_Missense_Mutation_p.G436R|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000408978.4_Missense_Mutation_p.G436R Q8WXR4 MYO3B_HUMAN myosin IIIB 436 Myosin head-like. response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 59 TGTCATCAGCGGAGAGAGTGG 0.448000 87 95 0 0 1 0 0 CXorf66 347487 broad.mit.edu 37 X 139038807 139038807 + Missense_Mutation SNP T T A TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chrX:139038807T>A ENST00000370540.1 - 3 357 c.334A>T c.(334-336)Atg>Ttg p.M112L NM_001013403.2 NP_001013421.1 Q5JRM2 CX066_HUMAN chromosome X open reading frame 66 112 Ser-rich. integral to membrane breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1) 26 GTAGATAGCATGGGTTGTGTT 0.433000 410 167 0 0 1 0 0 HCK 3055 broad.mit.edu 37 20 30681703 30681703 + Missense_Mutation SNP A A G TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr20:30681703A>G ENST00000534862.1 + 12 1433 c.1070A>G c.(1069-1071)tAc>tGc p.Y357C HCK_ENST00000538448.1_Missense_Mutation_p.Y356C|HCK_ENST00000520553.1_Missense_Mutation_p.Y356C|HCK_ENST00000518730.1_Missense_Mutation_p.Y355C|HCK_ENST00000375852.2_Missense_Mutation_p.Y377C|HCK_ENST00000375862.2_Missense_Mutation_p.Y376C NM_001172132.1 NP_001165603.1 P08631 HCK_HUMAN hemopoietic cell kinase 377 Protein kinase. interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction caveola|cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4) 36 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) CAGAGGAACTACATCCACCGA 0.567000 42 234 0 0 1 0 0 FEM1A 55527 broad.mit.edu 37 19 4793717 4793717 + Silent SNP C C A TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr19:4793717C>A ENST00000269856.3 + 1 1990 c.1851C>A c.(1849-1851)gcC>gcA p.A617A AC005523.2_ENST00000601192.1_RNA NM_018708.2 NP_061178.1 Q9BSK4 FEM1A_HUMAN fem-1 homolog a (C. elegans) 617 regulation of ubiquitin-protein ligase activity cytoplasm binding|ubiquitin-protein ligase activity p.A617A(4) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 17 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) AGAAGACGGCCTACGAGCTGC 0.607000 8 168 1 1 1 1 0 PCDHA9 0 broad.mit.edu 37 5 140230505 140230505 + Missense_Mutation SNP A A G TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr5:140230505A>G ENST00000378122.3 + 1 3149 c.2425A>G c.(2425-2427)Ata>Gta p.I809V PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron NM_014005.3 NP_054724.1 breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 59 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) atttatttatataattttttt 0.358000 13 316 0 0 1 0 0 KATNB1 10300 broad.mit.edu 37 16 57787404 57787404 + Missense_Mutation SNP G G A TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr16:57787404G>A ENST00000379661.3 + 12 1542 c.1150G>A c.(1150-1152)Gag>Aag p.E384K NM_005886.2 NP_005877.2 Q9BVA0 KTNB1_HUMAN katanin p80 (WD repeat containing) subunit B 1 384 Interaction with PAFAH1B1 (By similarity). cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting katanin complex|microtubule|spindle pole microtubule binding|protein heterodimerization activity p.E384K(1) cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_neural(199;0.223) GGACTACAACGAGATCTTCCA 0.667000 63 196 0 0 1 0 0 HIATL1 84641 broad.mit.edu 37 9 97207438 97207438 + Missense_Mutation SNP T T A TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr9:97207438T>A ENST00000375344.3 + 6 972 c.703T>A c.(703-705)Tct>Act p.S235T HIATL1_ENST00000428393.2_Missense_Mutation_p.S170T NM_032558.2 NP_115947.2 Q5SR56 HIAL1_HUMAN hippocampus abundant transcript-like 1 235 transmembrane transport integral to membrane|plasma membrane protein binding|transporter activity endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1) 11 Acute lymphoblastic leukemia(62;0.136) AGCTCAGATTTCTTGGAAACA 0.423000 62 105 0 0 1 0 0 RBM15 64783 broad.mit.edu 37 1 110883874 110883874 + Missense_Mutation SNP G G T TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr1:110883874G>T ENST00000369784.3 + 1 2747 c.1847G>T c.(1846-1848)cGc>cTc p.R616L RBM15_ENST00000602849.1_Missense_Mutation_p.R616L|RBM15_ENST00000487146.2_Missense_Mutation_p.R616L NM_022768.4 NP_073605.4 Q96T37 RBM15_HUMAN RNA binding motif protein 15 616 Arg-rich. interspecies interaction between organisms nucleus nucleotide binding|protein binding|RNA binding ovary(3) 3 all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634) BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135) AGCCTAGATCGCAGGCGGGAT 0.612000 T MKL1 acute megakaryocytic leukemia 36 109 4.62619e-21 5.12185e-21 1 1 0 SERPINB7 8710 broad.mit.edu 37 18 61460480 61460480 + Missense_Mutation SNP T T G TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr18:61460480T>G ENST00000398019.2 + 4 630 c.305T>G c.(304-306)cTt>cGt p.L102R SERPINB7_ENST00000336429.2_Missense_Mutation_p.L102R|SERPINB7_ENST00000546027.1_Missense_Mutation_p.L102R|SERPINB7_ENST00000540675.1_Missense_Mutation_p.L85R NM_003784.3 NP_003775.1 O75635 SPB7_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 7 102 regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3) 27 Esophageal squamous(42;0.129) GTGAATGGGCTTTTTGCTGAA 0.368000 115 198 0 0 1 0 0 HOXC12 3228 broad.mit.edu 37 12 54348806 54348806 + Silent SNP G G T TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr12:54348806G>T ENST00000243103.3 + 1 189 c.93G>T c.(91-93)gcG>gcT p.A31A NM_173860.1 NP_776272.1 P31275 HXC12_HUMAN homeobox C12 31 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(3)|lung(8)|upper_aerodigestive_tract(1) 12 ACTTCCGCGCGTCCGGGGCGC 0.652000 7 139 0.00198382 0.00200538 1 1 0 TRMT13 54482 broad.mit.edu 37 1 100613486 100613486 + Missense_Mutation SNP C C T TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr1:100613486C>T ENST00000370141.2 + 10 860 c.854C>T c.(853-855)gCc>gTc p.A285V NM_019083.2 NP_061956.2 tRNA methyltransferase 13 homolog (S. cerevisiae) ACCTATGCTGCCAGTTTTGAG 0.348000 38 186 0 0 1 0 0 ITPR2 3709 broad.mit.edu 37 12 26580903 26580903 + Silent SNP G G A TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr12:26580903G>A ENST00000381340.3 - 49 7304 c.6888C>T c.(6886-6888)ctC>ctT p.L2296L NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 2296 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) ATATTGATCTGAGCATTATTG 0.383000 42 365 0 0 1 0 0 PCDHA9 0 broad.mit.edu 37 5 140230517 140230517 + Missense_Mutation SNP C C G TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr5:140230517C>G ENST00000378122.3 + 1 3161 c.2437C>G c.(2437-2439)Ctt>Gtt p.L813V PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron NM_014005.3 NP_054724.1 breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 59 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) aattttttttCTTGAAAGATA 0.353000 12 363 0 0 1 0 0 PLD3 0 broad.mit.edu 37 19 40883778 40883778 + Missense_Mutation SNP G G A TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr19:40883778G>A ENST00000409587.1 + 12 1668 c.1271G>A c.(1270-1272)cGc>cAc p.R424H PLD3_ENST00000409281.1_Missense_Mutation_p.R424H|PLD3_ENST00000356508.5_Missense_Mutation_p.R424H|PLD3_ENST00000409735.4_Missense_Mutation_p.R424H|PLD3_ENST00000409419.1_Missense_Mutation_p.R424H Q8IV08 PLD3_HUMAN phospholipase D family, member 3 424 PLD phosphodiesterase 2. lipid catabolic process endoplasmic reticulum membrane|integral to membrane NAPE-specific phospholipase D activity|phospholipase D activity|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 20 Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248) GTGACTGAACGCGCCACCTAC 0.612000 32 157 0 0 1 0 0 LINC00264 0 broad.mit.edu 37 10 26880338 26880338 + RNA SNP G G C rs3118888 by1000genomes TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr10:26880338G>C ENST00000412114.1 + 0 573 NR_026793.1 GCTGAAACATGGAAGGTAAAA 0.483000 10 191 0 0 1 0 0 DSC2 1824 broad.mit.edu 37 18 28648987 28648987 + Missense_Mutation SNP G G A rs1617629 TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr18:28648987G>A ENST00000280904.6 - 15 2824 c.2381C>T c.(2380-2382)tCg>tTg p.S794L DSC2_ENST00000251081.6_Missense_Mutation_p.S794L NM_024422.3 NP_077740.1 Q02487 DSC2_HUMAN desmocollin 2 794 homophilic cell adhesion desmosome|integral to membrane calcium ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(10;0.0241) GCAGGATTCCGAGGTCTGGTG 0.592000 7 254 0 0 1 0 0 IMP3 55272 broad.mit.edu 37 15 75932236 75932236 + Missense_Mutation SNP G G C TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr15:75932236G>C ENST00000314852.2 - 2 1217 c.274C>G c.(274-276)Cgc>Ggc p.R92G IMP3_ENST00000403490.1_Missense_Mutation_p.R92G Q9NV31 IMP3_HUMAN IMP3, U3 small nucleolar ribonucleoprotein, homolog (yeast) 92 rRNA processing nucleolus|ribonucleoprotein complex protein binding|rRNA binding large_intestine(1) 1 AGCGAACCGCGCGTGGGCACC 0.711000 6 103 0 0 1 0 0 DNAAF2 0 broad.mit.edu 37 14 50100984 50100984 + Missense_Mutation SNP G G A TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr14:50100984G>A ENST00000298292.8 - 1 964 c.884C>T c.(883-885)gCc>gTc p.A295V DNAAF2_ENST00000406043.3_Missense_Mutation_p.A295V NM_018139.2 NP_060609.2 Q9NVR5 KTU_HUMAN dynein, axonemal, assembly factor 2 295 axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility cytoplasm kidney(1)|lung(4) 5 CGCCTGCTCGGCCGAGCGCAA 0.652000 37 122 0 0 1 0 0 ASIC2 40 broad.mit.edu 37 17 32483324 32483324 + Silent SNP C C T rs137994407 by1000genomes TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr17:32483324C>T ENST00000359872.6 - 1 989 c.228G>A c.(226-228)gtG>gtA p.V76V NM_001094.4 NP_001085.2 Q16515 ACCN1_HUMAN acid-sensing (proton-gated) ion channel 2 76 central nervous system development|peripheral nervous system development|synaptic transmission integral to plasma membrane ligand-gated sodium channel activity|protein binding Amiloride(DB00594) CCACTTCGTCCACCTTAGTGA 0.577000 16 204 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000382578.1_Silent_p.S281S NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 9 315 0 0 1 0 0 USP10 9100 broad.mit.edu 37 16 84797846 84797846 + Silent SNP C C T TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr16:84797846C>T ENST00000219473.7 + 10 1922 c.1809C>T c.(1807-1809)acC>acT p.T603T USP10_ENST00000570191.1_Silent_p.T607T NM_001272075.1|NM_005153.2 NP_001259004.1|NP_005144.2 Q14694 UBP10_HUMAN ubiquitin specific peptidase 10 603 DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process early endosome|intermediate filament cytoskeleton|nucleus cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1) 17 CTCCAATCACCGGCATTTTTG 0.488000 187 259 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.532000 T MLL ALL 18 382 0 0 1 0 0 HBE1 3046 broad.mit.edu 37 11 5290746 5290746 + Missense_Mutation SNP C C T TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr11:5290746C>T ENST00000380237.1 - 4 597 c.253G>A c.(253-255)Gcc>Acc p.A85T HBE1_ENST00000292896.2_Missense_Mutation_p.A85T|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron P02100 HBE_HUMAN hemoglobin, epsilon 1 85 blood coagulation hemoglobin complex heme binding|oxygen binding|oxygen transporter activity p.A85S(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1) 20 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TTAGCAAAGGCGGGCTTGAGG 0.502000 180 290 0 0 1 0 0 ZFYVE1 53349 broad.mit.edu 37 14 73459982 73459982 + Missense_Mutation SNP G G A TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr14:73459982G>A ENST00000556143.1 - 4 1792 c.1072C>T c.(1072-1074)Cac>Tac p.H358Y ZFYVE1_ENST00000318876.5_Missense_Mutation_p.H358Y|ZFYVE1_ENST00000553891.1_Missense_Mutation_p.H358Y NM_021260.2 NP_067083.1 Q9HBF4 ZFYV1_HUMAN zinc finger, FYVE domain containing 1 358 endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm 1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1) 35 all_lung(585;1.33e-09) OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349) CCCTTGTAGTGAATGGAACTA 0.537000 131 182 0 0 1 0 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39262083 39262083 + Missense_Mutation SNP A A C rs75392608 TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr17:39262083A>C ENST00000391415.1 + 1 500 c.443A>C c.(442-444)aAc>aCc p.N148T NM_001146041.1 NP_001139513.1 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 148 29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP]. keratin filament central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3) 14 tgccagcccaactgctgccgc 0.667000 5 92 0 0 1 0 0 LRRK2 120892 broad.mit.edu 37 12 40704299 40704299 + Missense_Mutation SNP C C T TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr12:40704299C>T ENST00000298910.7 + 31 4442 c.4384C>T c.(4384-4386)Cgc>Tgc p.R1462C NM_198578.3 NP_940980.3 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 1462 Roc. activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) TGAGAAGCAACGCAAAGCCTG 0.483000 114 494 0 0 1 0 0 MAML3 55534 broad.mit.edu 37 4 140811099 140811099 + Splice_Site SNP C C T TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr4:140811099C>T ENST00000398940.1 - 1 107 c.108_splice c.e1+1 p.Q36_splice MAML3_ENST00000509479.2_Silent_p.Q497Q|MAML3_ENST00000327122.5_Silent_p.Q341Q Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 497 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity p.Q497Q(2) breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) gctgctgctgctgctgctgct 0.542000 13 327 0 0 1 0 0 TMEM108 66000 broad.mit.edu 37 3 133099106 133099106 + Missense_Mutation SNP C C T TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr3:133099106C>T ENST00000515826.1 + 3 674 c.551C>T c.(550-552)cCg>cTg p.P184L TMEM108_ENST00000321871.6_Missense_Mutation_p.P184L|TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000393130.3_Missense_Mutation_p.P184L Q6UXF1 TM108_HUMAN transmembrane protein 108 184 Pro-rich. integral to membrane endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 CGCCCTGTCCCGCCTGCACCT 0.647000 64 101 0 0 1 0 0 OTOP3 347741 broad.mit.edu 37 17 72943312 72943312 + Silent SNP G G A TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr17:72943312G>A ENST00000328801.4 + 6 1362 c.1362G>A c.(1360-1362)tcG>tcA p.S454S NM_178233.1 NP_839947.1 Q7RTS5 OTOP3_HUMAN otopetrin 3 454 integral to membrane|intracellular zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_lung(278;0.151)|Lung NSC(278;0.185) TGGCCTACTCGCTGCTGCTCA 0.627000 30 126 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803621 142803621 + RNA SNP T T C TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr1:142803621T>C ENST00000423385.1 - 0 1344 TGGAAGAaactaatatctgtt 0.303000 8 308 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593000 96593000 + Missense_Mutation SNP A A G rs111976783 TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr2:96593000A>G ENST00000456556.1 - 28 1985 c.1901T>C c.(1900-1902)aTa>aCa p.I634T ankyrin repeat domain 36C p.I634T(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TTCTGTGGCTATATTTGAAAC 0.338000 8 274 0 0 1 0 0 DENND1A 57706 broad.mit.edu 37 9 126165765 126165765 + Missense_Mutation SNP C C T TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr9:126165765C>T ENST00000373624.2 - 20 1694 c.1493G>A c.(1492-1494)cGc>cAc p.R498H DENND1A_ENST00000394219.3_Missense_Mutation_p.R466H|DENND1A_ENST00000542603.1_Missense_Mutation_p.R240H|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000373620.3_Missense_Mutation_p.R498H|DENND1A_ENST00000394215.2_Missense_Mutation_p.R468H NM_020946.1 NP_065997.1 Q8TEH3 DEN1A_HUMAN DENN/MADD domain containing 1A 498 cell junction|clathrin coated vesicle membrane|presynaptic membrane guanyl-nucleotide exchange factor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 ACGAGGTGGGCGCACCTAGAG 0.542000 18 109 0 0 1 0 0 RGS22 26166 broad.mit.edu 37 8 101052308 101052308 + Missense_Mutation SNP G G T TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr8:101052308G>T ENST00000360863.6 - 13 2140 c.1946C>A c.(1945-1947)aCc>aAc p.T649N RGS22_ENST00000523437.1_Missense_Mutation_p.T637N|RGS22_ENST00000523287.1_Missense_Mutation_p.T468N NM_015668.3 NP_056483.3 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 649 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity RGS22/SYCP1(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) ATCTGACACGGTTTTAACCTA 0.348000 127 128 3.41043e-57 3.86793e-57 1 1 0 KRT6A 3853 broad.mit.edu 37 12 52884454 52884454 + Missense_Mutation SNP G G A TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr12:52884454G>A ENST00000330722.6 - 5 1044 c.976C>T c.(976-978)Cgc>Tgc p.R326C NM_005554.3 NP_005545.1 P02538 K2C6A_HUMAN keratin 6A 326 Linker 12.|Rod. cell differentiation|ectoderm development|positive regulation of cell proliferation keratin filament protein binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 39 BRCA - Breast invasive adenocarcinoma(357;0.189) TCCAGGTTGCGGTTGTTGTCC 0.537000 124 603 0 0 1 0 0 ZNF707 286075 broad.mit.edu 37 8 144776010 144776010 + Silent SNP C C T TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr8:144776010C>T ENST00000532205.1 + 8 1325 c.426C>T c.(424-426)gaC>gaT p.D142D ZNF707_ENST00000532158.1_Silent_p.D142D|ZNF707_ENST00000358656.4_Silent_p.D142D|ZNF707_ENST00000454097.1_Silent_p.D142D|ZNF707_ENST00000418203.2_Silent_p.D142D Q96C28 ZN707_HUMAN zinc finger protein 707 142 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(1) 1 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) AAAGGACAGACGCCAAGCCCA 0.647000 42 147 0 0 1 0 0 SPAG17 200162 broad.mit.edu 37 1 118539013 118539013 + Missense_Mutation SNP T T C TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr1:118539013T>C ENST00000336338.5 - 34 5098 c.5033A>G c.(5032-5034)gAg>gGg p.E1678G NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1678 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) CTGCACTGGCTCTTGGAGAAC 0.428000 152 297 0 0 1 0 0 TLR2 7097 broad.mit.edu 37 4 154624846 154624846 + Missense_Mutation SNP G G A TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr4:154624846G>A ENST00000260010.6 + 1 2195 c.787G>A c.(787-789)Gat>Aat p.D263N NM_003264.3 NP_003255.2 O60603 TLR2_HUMAN toll-like receptor 2 263 cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 29 all_hematologic(180;0.093) Renal(120;0.117) GAAAATCACCGATGAAAGTTT 0.318000 16 241 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S168S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.537000 T MLL ALL 14 404 0 0 1 0 0 PGAP3 93210 broad.mit.edu 37 17 37842226 37842226 + Silent SNP G G A TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr17:37842226G>A ENST00000300658.4 - 2 320 c.228C>T c.(226-228)acC>acT p.T76T PGAP3_ENST00000429199.2_Silent_p.T76T|PGAP3_ENST00000378011.4_Silent_p.T76T|PGAP3_ENST00000579146.1_Silent_p.T76T NM_033419.3 NP_219487.3 Q96FM1 PGAP3_HUMAN post-GPI attachment to proteins 3 76 GPI anchor biosynthetic process Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane hydrolase activity, acting on ester bonds breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 12 AGAGCCCAACGGTGACCCACA 0.537000 26 101 0 0 1 0 0 POM121L9P 0 broad.mit.edu 37 22 24656959 24656959 + RNA SNP G G A TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr22:24656959G>A ENST00000414583.2 + 0 2032 NR_003714.1 CCTCAGGGAGGGAGTGACCTC 0.627000 4 19 0 0 1 0 0 GNAS 2778 broad.mit.edu 37 20 57484420 57484420 + Missense_Mutation SNP C C T rs11554273 TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr20:57484420C>T ENST00000371100.4 + 8 3082 c.2530C>T c.(2530-2532)Cgt>Tgt p.R844C GNAS_ENST00000306090.10_Missense_Mutation_p.R187C|GNAS_ENST00000354359.7_Missense_Mutation_p.R202C|GNAS_ENST00000265620.7_Missense_Mutation_p.R186C|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371102.4_Missense_Mutation_p.R830C|GNAS_ENST00000371085.3_Missense_Mutation_p.R201C|GNAS_ENST00000371095.3_Missense_Mutation_p.R187C|GNAS_ENST00000313949.7_3'UTR NM_001077490.1|NM_080425.2 NP_001070958.1|NP_536350.2 P63092 GNAS2_HUMAN GNAS complex locus 201 activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity p.R201C(228)|p.R844C(9)|p.R201S(5) adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1) 441 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) GCTTCGCTGCCGTGTCCTGAC 0.428000 Mis pituitary adenoma """McCune-Albright syndrome; pseudohypoparathyroidism, type IA""" TSP Lung(22;0.16) 237 266 0 0 1 0 0 OR8B8 26493 broad.mit.edu 37 11 124310146 124310146 + Missense_Mutation SNP G G T TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr11:124310146G>T ENST00000328064.2 - 1 908 c.836C>A c.(835-837)aCc>aAc p.T279N NM_012378.1 NP_036510.1 Q15620 OR8B8_HUMAN olfactory receptor, family 8, subfamily B, member 8 279 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) CACCACAGTGGTATAGAATAG 0.413000 26 231 4.43304e-23 4.96714e-23 1 1 0 PTPRH 5794 broad.mit.edu 37 19 55710122 55710122 + Missense_Mutation SNP C C A TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr19:55710122C>A ENST00000376350.3 - 8 1601 c.1579G>T c.(1579-1581)Ggt>Tgt p.G527C PTPRH_ENST00000263434.5_Missense_Mutation_p.G349C|PTPRH_ENST00000588559.1_5'UTR NM_002842.3 NP_002833.3 Q9HD43 PTPRH_HUMAN protein tyrosine phosphatase, receptor type, H 527 Fibronectin type-III 6. apoptosis cytoplasm|integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.G527S(1) breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 67 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0479) ATGTCAGTACCTGAGGTGCTT 0.597000 35 212 1.04594e-18 1.13107e-18 1 1 0 TBC1D17 79735 broad.mit.edu 37 19 50390732 50390732 + Splice_Site SNP G G T TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr19:50390732G>T ENST00000221543.5 + 14 1743 c.e14-1 TBC1D17_ENST00000535102.2_Splice_Site NM_024682.2 NP_078958.2 Q9HA65 TBC17_HUMAN TBC1 domain family, member 17 intracellular Rab GTPase activator activity NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 15 all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017) TCATCCCCCAGATTCCCAGGA 0.577000 40 72 1.57019e-19 1.71798e-19 1 1 0 MYO15A 51168 broad.mit.edu 37 17 18025706 18025706 + Missense_Mutation SNP C C T TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr17:18025706C>T ENST00000205890.5 + 2 3930 c.3592C>T c.(3592-3594)Cca>Tca p.P1198S NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 1198 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) GGTCGGCCCGCCAAGCTGGCG 0.637000 38 164 0 0 1 0 0 ATG10 83734 broad.mit.edu 37 5 81283497 81283497 + Splice_Site SNP G G C TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr5:81283497G>C ENST00000282185.3 + 2 402 c.108_splice c.e2+1 p.K36_splice ATG10_ENST00000458350.3_Splice_Site_p.K36_splice|ATG10_ENST00000513443.1_Splice_Site_p.K36_splice|ATG10_ENST00000513634.1_Splice_Site_p.K36_splice|ATG10_ENST00000355178.4_Splice_Site_p.K36_splice NM_031482.4 NP_113670.1 Q9H0Y0 ATG10_HUMAN autophagy related 10 36 autophagy in response to ER overload|positive regulation of protein modification process|protein lipidation|protein modification by small protein conjugation|protein transport cytoplasm Atg12 ligase activity|protein binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(2) 9 Lung NSC(167;0.0258)|all_lung(232;0.0294)|Ovarian(174;0.135) OV - Ovarian serous cystadenocarcinoma(54;9.94e-41)|Epithelial(54;6.3e-36)|all cancers(79;2.31e-30) GACCATCAAAGGTAAGAATGG 0.328000 81 274 0 0 1 0 0 PEG3 5178 broad.mit.edu 37 19 57327021 57327021 + Missense_Mutation SNP C C T TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr19:57327021C>T ENST00000326441.9 - 10 3152 c.2789G>A c.(2788-2790)cGt>cAt p.R930H ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.R806H|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.R930H|PEG3_ENST00000593695.1_Missense_Mutation_p.R804H|ZIM2_ENST00000391708.3_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 930 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) CTGGTATTCACGGACATTTGA 0.448000 206 447 0 0 1 0 0 ZNF302 55900 broad.mit.edu 37 19 35176007 35176007 + Silent SNP C C T TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr19:35176007C>T ENST00000505242.1 + 5 1559 c.1065C>T c.(1063-1065)caC>caT p.H355H ZNF302_ENST00000505365.2_3'UTR|ZNF302_ENST00000446502.2_Silent_p.H399H|ZNF302_ENST00000423823.2_Silent_p.H355H|ZNF302_ENST00000457781.2_Silent_p.H355H Q9NR11 ZN302_HUMAN zinc finger protein 302 434 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(1)|large_intestine(2)|lung(2)|skin(1) 6 all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) GTAGCTCACACCTTACTCAAC 0.373000 40 193 0 0 1 0 0 BCAT1 586 broad.mit.edu 37 12 25002795 25002795 + Missense_Mutation SNP T T G TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr12:25002795T>G ENST00000261192.7 - 6 1125 c.599A>C c.(598-600)aAt>aCt p.N200T BCAT1_ENST00000342945.5_Missense_Mutation_p.N139T|BCAT1_ENST00000538118.1_Missense_Mutation_p.N199T|BCAT1_ENST00000539780.1_Missense_Mutation_p.N163T|BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000539282.1_Missense_Mutation_p.N212T NM_001178091.1|NM_005504.6 NP_001171562.1|NP_005495.2 P54687 BCAT1_HUMAN branched chain amino-acid transaminase 1, cytosolic 200 branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle cytosol L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity breast(1)|large_intestine(1)|lung(3)|prostate(2) 7 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196) Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114) GGACACTGGATTAAAGGTTCC 0.483000 86 1672 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14513764 14513764 + Missense_Mutation SNP C C T TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr18:14513764C>T ENST00000358970.5 - 10 1429 c.1430G>A c.(1429-1431)cGg>cAg p.R477Q NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 477 p.R477Q(12) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 AAGTTGTTTCCGGGTATCATT 0.358000 11 330 0 0 1 0 0 CD300LD 100131439 broad.mit.edu 37 17 72584875 72584875 + Missense_Mutation SNP G G A TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr17:72584875G>A ENST00000375352.1 - 2 234 c.154C>T c.(154-156)Cgg>Tgg p.R52W C17orf77_ENST00000392620.1_Intron NM_001115152.1 NP_001108624.1 Q6UXZ3 CLM4_HUMAN CD300 molecule-like family member d 52 Ig-like V-type. integral to membrane|plasma membrane receptor activity large_intestine(1)|lung(2)|prostate(1)|stomach(1) 5 CCTTGACACCGCCACTTCAAG 0.473000 135 444 0 0 1 0 0 FRYL 285527 broad.mit.edu 37 4 48548200 48548200 + Silent SNP G G A TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr4:48548200G>A ENST00000537810.1 - 42 5767 c.5163C>T c.(5161-5163)agC>agT p.S1721S FRYL_ENST00000503238.1_Silent_p.S1721S|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000358350.4_Silent_p.S1721S O94915 FRYL_HUMAN FRY-like 1721 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 TATTTCCTAAGCTGATACTAG 0.448000 71 122 0 0 1 0 0 ERCC6-PGBD3 0 broad.mit.edu 37 10 50725028 50725028 + Nonsense_Mutation SNP C C A TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr10:50725028C>A ENST00000515869.1 - 6 1657 c.1537G>T c.(1537-1539)Gaa>Taa p.E513* PGBD3_ENST00000374127.3_Nonsense_Mutation_p.E45*|PGBD3_ENST00000508005.2_Nonsense_Mutation_p.E45*|ERCC6_ENST00000355832.5_Intron|ERCC6-PGBD3_ENST00000447839.2_Nonsense_Mutation_p.E513*|PGBD3_ENST00000603152.1_Nonsense_Mutation_p.E513* NM_001277059.1 NP_001263988.1 CCACCTTCTTCATCTCCTGAT 0.428000 56 650 1.38909e-20 1.52883e-20 1 1 0 PPP1R9A 55607 broad.mit.edu 37 7 94879384 94879384 + Missense_Mutation SNP C C A TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr7:94879384C>A ENST00000289495.5 + 8 2363 c.2147C>A c.(2146-2148)aCc>aAc p.T716N PPP1R9A_ENST00000424654.1_Missense_Mutation_p.T716N|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.T716N|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.T716N|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.T716N|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.T738N NM_001166161.1 NP_001159633.1 Q9ULJ8 NEB1_HUMAN protein phosphatase 1, regulatory subunit 9A 716 Interacts with TGN38 (By similarity). cell junction|synapse|synaptosome actin binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5) 71 all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09) STAD - Stomach adenocarcinoma(171;0.0031) CTAGAAAAAACCCAACTCCAA 0.413000 HNSCC(28;0.073) 37 120 9.04072e-19 9.83376e-19 1 1 0 KCNH8 131096 broad.mit.edu 37 3 19575468 19575468 + Silent SNP C C T TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr3:19575468C>T ENST00000328405.2 + 16 3467 c.3201C>T c.(3199-3201)aaC>aaT p.N1067N NM_144633.2 NP_653234.2 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 8 1067 integral to membrane two-component sensor activity NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 77 GTCTGGAAAACTTACCAGGAT 0.483000 12 409 0 0 1 0 0 FBXL13 222235 broad.mit.edu 37 7 102518012 102518012 + Nonsense_Mutation SNP G G A TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr7:102518012G>A ENST00000393772.2 - 16 1963 c.1537C>T c.(1537-1539)Cga>Tga p.R513* FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000379305.3_Nonsense_Mutation_p.R513*|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000455112.2_Nonsense_Mutation_p.R513*|FBXL13_ENST00000379308.3_Nonsense_Mutation_p.R513*|FBXL13_ENST00000313221.4_Nonsense_Mutation_p.R513*|FBXL13_ENST00000436908.1_Nonsense_Mutation_p.R513* Q8NEE6 FXL13_HUMAN F-box and leucine-rich repeat protein 13 513 p.R513*(2) NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1) 27 TCACAATTTCGTAAACTCAAG 0.323000 63 357 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195400728 195400728 + RNA SNP A A G rs12107841 by1000genomes TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr3:195400728A>G ENST00000445430.1 + 0 1324 GATTGTGCCCAGCCTGTACGC 0.587000 11 112 0 0 1 0 0 TUBGCP6 85378 broad.mit.edu 37 22 50657234 50657234 + Silent SNP G G A TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr22:50657234G>A ENST00000248846.5 - 21 4823 c.4719C>T c.(4717-4719)gaC>gaT p.D1573D TUBGCP6_ENST00000439308.2_3'UTR|TUBGCP6_ENST00000491449.1_5'UTR Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 1573 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2) 45 all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) CGTGCGGGGTGTCCCCATGCA 0.647000 81 176 0 0 1 0 0 UGT1A4 0 broad.mit.edu 37 2 234627926 234627926 + Missense_Mutation SNP G G T TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr2:234627926G>T ENST00000373409.3 + 1 503 c.460G>T c.(460-462)Gtt>Ttt p.V154F UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron NM_007120.2 NP_009051.1 autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1) 26 Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128) Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624) AACAGACCCCGTTAACCTCTG 0.483000 203 949 1.33315e-76 1.54016e-76 1 1 0 SND1 27044 broad.mit.edu 37 7 127484381 127484381 + Missense_Mutation SNP A A G TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr7:127484381A>G ENST00000354725.3 + 12 1441 c.1247A>G c.(1246-1248)aAt>aGt p.N416S NM_014390.2 NP_055205.2 Q7KZF4 SND1_HUMAN staphylococcal nuclease and tudor domain containing 1 416 TNase-like 3. gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent melanosome|nucleus|RNA-induced silencing complex nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 41 TTCCAGGTCAATGTGACGGTG 0.507000 6 160 0 0 1 0 0 DHX33 56919 broad.mit.edu 37 17 5365761 5365761 + Missense_Mutation SNP G G A TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr17:5365761G>A ENST00000225296.3 - 3 756 c.556C>T c.(556-558)Cgg>Tgg p.R186W DHX33_ENST00000433302.3_Intron NM_001199699.1|NM_020162.3 NP_001186628.1|NP_064547.2 Q9H6R0 DHX33_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 33 186 Helicase ATP-binding. nucleolus ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 CTGTATTTCCGAAGCAAAGAG 0.463000 63 248 0 0 1 0 0 ADCY8 114 broad.mit.edu 37 8 131793086 131793086 + Silent SNP G G A rs145809062 TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr8:131793086G>A ENST00000286355.5 - 18 5398 c.3306C>T c.(3304-3306)ggC>ggT p.G1102G ADCY8_ENST00000377928.3_Silent_p.G971G NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 1102 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding p.G1102G(1) NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) GTTTCTTAGCGCCGATAACGC 0.567000 HNSCC(32;0.087) 244 765 0 0 1 0 0 TREX1 11277 broad.mit.edu 37 3 48508064 48508064 + Nonsense_Mutation SNP C C T TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr3:48508064C>T ENST00000296443.9 + 3 897 c.10C>T c.(10-12)Cag>Tag p.Q4* TREX1_ENST00000492235.1_Intron|TREX1_ENST00000422277.2_Nonsense_Mutation_p.Q59*|TREX1_ENST00000433541.1_Intron|TREX1_ENST00000436480.2_Nonsense_Mutation_p.Q4*|TREX1_ENST00000456089.1_Intron|TREX1_ENST00000444177.1_Intron Q9NSU2 TREX1_HUMAN three prime repair exonuclease 1 59 cell death|DNA recombination|DNA replication|mismatch repair nuclear envelope 3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|metal ion binding|MutLalpha complex binding|MutSalpha complex binding|protein homodimerization activity|single-stranded DNA binding breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3) 9 BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) CATGGGCTCGCAGGCCCTGCC 0.637000 160 782 0 0 1 0 0 GPR125 166647 broad.mit.edu 37 4 22456513 22456513 + Missense_Mutation SNP C C T TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr4:22456513C>T ENST00000334304.5 - 4 718 c.449G>A c.(448-450)cGa>cAa p.R150Q GPR125_ENST00000502482.1_Missense_Mutation_p.R150Q|GPR125_ENST00000282943.5_5'UTR NM_145290.2 NP_660333.2 Q8IWK6 GP125_HUMAN G protein-coupled receptor 125 150 neuropeptide signaling pathway integral to membrane G-protein coupled receptor activity breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 56 Breast(46;0.198) GGTGAGTCCTCGAAATATGTC 0.378000 124 216 0 0 1 0 0 FCN1 2219 broad.mit.edu 37 9 137809657 137809657 + Missense_Mutation SNP G G T TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr9:137809657G>T ENST00000371806.3 - 1 152 c.61C>A c.(61-63)Cat>Aat p.H21N NM_002003.3 NP_001994.2 O00602 FCN1_HUMAN ficolin (collagen/fibrinogen domain containing) 1 21 opsonization|signal transduction collagen|extracellular space antigen binding|calcium ion binding|receptor binding|sugar binding endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 37 Myeloproliferative disorder(178;0.0333) OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07) TTCTTGATATGCAGGAACAAG 0.572000 57 303 3.30226e-22 3.67797e-22 1 1 0 TOP2A 7153 broad.mit.edu 37 17 38555132 38555132 + Missense_Mutation SNP C C T TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr17:38555132C>T ENST00000423485.1 - 26 3504 c.3346G>A c.(3346-3348)Gac>Aac p.D1116N NM_001067.3 NP_001058.2 P11388 TOP2A_HUMAN topoisomerase (DNA) II alpha 170kDa 1116 apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 39 Breast(137;0.00328) STAD - Stomach adenocarcinoma(5;0.00183) Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385) GTTACGGAGTCACTCTTTTCA 0.353000 112 109 0 0 1 0 0 FBXW10 10517 broad.mit.edu 37 17 18675802 18675802 + Missense_Mutation SNP C C T rs150329747 byFrequency TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr17:18675802C>T ENST00000308799.4 + 11 2390 c.2171C>T c.(2170-2172)aCg>aTg p.T724M FBXW10_ENST00000395665.4_Missense_Mutation_p.T695M|FBXW10_ENST00000301938.4_Missense_Mutation_p.T642M|FBXW10_ENST00000573605.1_3'UTR|FBXW10_ENST00000395667.1_Missense_Mutation_p.T695M Q5XX13 FBW10_HUMAN F-box and WD repeat domain containing 10 695 NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 42 GTggaaaaaacgaaacaaaag 0.413000 59 665 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587657 43587657 + RNA SNP C C T rs148404065 by1000genomes TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr17:43587657C>T ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA GGTGACAACACATCTGTTTTA 0.323000 8 189 0 0 1 0 0 NELFCD 51497 broad.mit.edu 37 20 57564956 57564956 + Missense_Mutation SNP C C T TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr20:57564956C>T ENST00000602795.1 + 7 803 c.755C>T c.(754-756)gCc>gTc p.A252V NELFCD_ENST00000344018.3_Missense_Mutation_p.A243V negative elongation factor complex member C/D TTTGCCCAGGCCATGATGTCC 0.637000 84 239 0 0 1 0 0 MDM1 56890 broad.mit.edu 37 12 68707443 68707443 + Missense_Mutation SNP A A C TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr12:68707443A>C ENST00000303145.7 - 10 1676 c.1590T>G c.(1588-1590)gaT>gaG p.D530E MDM1_ENST00000411698.2_Missense_Mutation_p.D495E|MDM1_ENST00000540418.1_Missense_Mutation_p.D250E NM_017440.4 NP_059136.2 Q8TC05 MDM1_HUMAN Mdm1 nuclear protein homolog (mouse) 530 nucleus breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7) 33 Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018) GBM - Glioblastoma multiforme(7;0.000174) GAGTAGTGAGATCATGATGAG 0.413000 428 199 0 0 1 0 0 CRYBB1 1414 broad.mit.edu 37 22 27008041 27008041 + Silent SNP C C T TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr22:27008041C>T ENST00000215939.2 - 3 424 c.294G>A c.(292-294)gcG>gcA p.A98A NM_001887.3 NP_001878.1 P53674 CRBB1_HUMAN crystallin, beta B1 98 Beta/gamma crystallin 'Greek key' 1. visual perception structural constituent of eye lens breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4) 31 CTCACGGTCCCGCGGAGACAA 0.582000 47 328 0 0 1 0 0 ATXN1 6310 broad.mit.edu 37 6 16327909 16327909 + Missense_Mutation SNP A A C rs59310777 by1000genomes TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr6:16327909A>C ENST00000244769.4 - 8 1569 c.633T>G c.(631-633)caT>caG p.H211Q ATXN1_ENST00000436367.1_Missense_Mutation_p.H211Q NM_000332.3 NP_000323.2 P54253 ATX1_HUMAN ataxin 1 211 Poly-Gln. H -> HQ (in Ref. 1; CAA55793). cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association p.H209_H211delHQH(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2) 44 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) gctgctgctgatgctgatgct 0.672000 4 85 0 0 1 0 0 AQP7 364 broad.mit.edu 37 9 33385614 33385614 + Missense_Mutation SNP A A T rs140995428 by1000genomes TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr9:33385614A>T ENST00000541274.1 - 5 830 c.381T>A c.(379-381)agT>agA p.S127R AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000537089.1_3'UTR O14520 AQP7_HUMAN aquaporin 7 0 excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) CCACAGAAAAACTCAAAGGAA 0.632000 9 397 0 0 1 0 0 BPTF 2186 broad.mit.edu 37 17 65941849 65941849 + Missense_Mutation SNP G G A TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr17:65941849G>A ENST00000321892.4 + 23 7464 c.7403G>A c.(7402-7404)cGt>cAt p.R2468H BPTF_ENST00000424123.3_Missense_Mutation_p.R2329H|BPTF_ENST00000306378.6_Missense_Mutation_p.R2342H|BPTF_ENST00000335221.5_Missense_Mutation_p.R2468H Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 2468 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) TCTCCTGTTCGTGTCCAAAGT 0.512000 67 247 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 16 281 0 0 1 0 0 PPP1R3C 5507 broad.mit.edu 37 10 93389816 93389816 + Silent SNP G G A TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr10:93389816G>A ENST00000238994.5 - 2 906 c.822C>T c.(820-822)gaC>gaT p.D274D NM_005398.5 NP_005389.1 Q9UQK1 PPR3C_HUMAN protein phosphatase 1, regulatory subunit 3C 274 protein serine/threonine phosphatase activity breast(1)|endometrium(1)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(1) 12 Colorectal(252;0.235) GGAATGCACAGTCCTGGGGTG 0.507000 76 265 0 0 1 0 0 RP11-206L10.8 0 broad.mit.edu 37 1 741173 741176 + RNA DEL ACTT ACTT - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr1:741173_741176delACTT ENST00000447500.1 - 0 238 GAAATAGAACACTTACTTTGACCA 0.373 31 110 --- --- --- --- PLEKHG5 57449 broad.mit.edu 37 1 6536011 6536013 + In_Frame_Del DEL CTC CTC - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr1:6536011_6536013delCTC ENST00000377748.1 - 4 855_857 c.358_360delGAG c.(358-360)del p.E120del PLEKHG5_ENST00000400913.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377725.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377728.3_In_Frame_Del_p.E43del|PLEKHG5_ENST00000544978.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000340850.5_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377737.2_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377740.3_In_Frame_Del_p.E120del|PLEKHG5_ENST00000535355.1_In_Frame_Del_p.E112del|PLEKHG5_ENST00000377732.1_In_Frame_Del_p.E80del|PLEKHG5_ENST00000537245.1_In_Frame_Del_p.E122del|PLEKHG5_ENST00000400915.3_In_Frame_Del_p.E99del NM_198681.3 NP_941374.2 O94827 PKHG5_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 5 99 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm Rho guanyl-nucleotide exchange factor activity|signal transducer activity liver(1) 1 Ovarian(185;0.02)|all_lung(157;0.154) all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448) Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419) CCACAGAGCTCTCCTCCTCCTCC 0.631 OREG0013041 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 388 --- --- --- --- PHF13 148479 broad.mit.edu 37 1 6680069 6680071 + In_Frame_Del DEL GAA GAA - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr1:6680069_6680071delGAA ENST00000377648.4 + 3 730_732 c.348_350delGAA c.(346-351)ctg>ct p.LK116del PHF13_ENST00000495385.1_Intron NM_153812.2 NP_722519.2 Q86YI8 PHF13_HUMAN PHD finger protein 13 116 cell division|chromatin modification|mitotic chromosome condensation nucleoplasm chromatin binding|methylated histone residue binding|zinc ion binding endometrium(3)|large_intestine(1)|lung(3) 7 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642) cggacaagctgaagaagaagaag 0.576 10 309 --- --- --- --- DNAJC11 55735 broad.mit.edu 37 1 6727803 6727804 + Frame_Shift_Del DEL TC TC - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr1:6727803_6727804delTC ENST00000377577.5 - 4 466_467 c.343_344delGA c.(343-345)afs p.E116fs DNAJC11_ENST00000542246.1_Frame_Shift_Del_p.E78fs|DNAJC11_ENST00000294401.7_Frame_Shift_Del_p.E116fs|DNAJC11_ENST00000349363.6_Frame_Shift_Del_p.E78fs|DNAJC11_ENST00000377573.5_Frame_Shift_Del_p.E26fs NM_018198.3 NP_060668.2 Q9NVH1 DJC11_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 11 116 protein folding heat shock protein binding|unfolded protein binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1) 32 Ovarian(185;0.0265)|all_lung(157;0.154) all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649) TCTCCTCTCTTCTCTCTCTCTC 0.505 14 186 --- --- --- --- VAMP3 9341 broad.mit.edu 37 1 7838212 7838214 + In_Frame_Del DEL TCA TCA - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr1:7838212_7838214delTCA ENST00000054666.6 + 4 381_383 c.266_268delTCA c.(265-270)ttc>t p.FI89del VAMP3_ENST00000470357.1_In_Frame_Del_p.FI61del NM_004781.3 NP_004772.1 Q15836 VAMP3_HUMAN vesicle-associated membrane protein 3 89 cellular membrane fusion|positive regulation of receptor recycling|protein complex assembly|protein transport|retrograde transport, endosome to Golgi|substrate adhesion-dependent cell spreading|vesicle docking involved in exocytosis cell junction|clathrin-coated vesicle|integral to membrane|recycling endosome|synapse|synaptosome protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3) 6 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642) CTGGTTATCTTCATCATCATCAT 0.365 9 806 --- --- --- --- RERE 473 broad.mit.edu 37 1 8716108 8716109 + Frame_Shift_Ins INS - - T TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr1:8716108_8716109insT ENST00000337907.3 - 3 882_883 c.248_249insA c.(247-249)atcfs p.I83fs RERE_ENST00000400907.2_Frame_Shift_Ins_p.I83fs|RERE_ENST00000400908.2_Frame_Shift_Ins_p.I83fs NM_012102.3 NP_036234.3 Q9P2R6 RERE_HUMAN arginine-glutamic acid dipeptide (RE) repeats 83 multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) CATAACGAGACTTTTTTTTCGG 0.450 10 1543 --- --- --- --- SLC6A9 6536 broad.mit.edu 37 1 44489938 44489938 + Frame_Shift_Del DEL T T - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr1:44489938delT ENST00000372310.3 - 2 177 c.12delA c.(10-12)aafs p.K4fs SLC6A9_ENST00000537678.1_5'UTR|SLC6A9_ENST00000492434.2_5'UTR|SLC6A9_ENST00000475075.2_5'UTR|SLC6A9_ENST00000372306.3_Frame_Shift_Del_p.K4fs NM_001024845.2 NP_001020016.1 P48067 SC6A9_HUMAN solute carrier family 6 (neurotransmitter transporter, glycine), member 9 335 integral to plasma membrane|membrane fraction glycine:sodium symporter activity|neurotransmitter:sodium symporter activity endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2) 22 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) Glycine(DB00145) CTTTGGCACCTTTTCCTACCA 0.627 10 3349 --- --- --- --- IPP 3652 broad.mit.edu 37 1 46184897 46184898 + Frame_Shift_Del DEL AC AC - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr1:46184897_46184898delAC ENST00000396478.3 - 6 1265_1266 c.1163_1164delGT c.(1162-1164)tfs p.C388fs NM_005897.2 NP_005888.1 Q9Y573 IPP_HUMAN intracisternal A particle-promoted polypeptide 388 actin cytoskeleton|cytoplasm actin binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2) 20 Acute lymphoblastic leukemia(166;0.155) TAGCCCCATAACACACACACAC 0.347 7 290 --- --- --- --- WDR78 79819 broad.mit.edu 37 1 67390426 67390426 + Frame_Shift_Del DEL T T - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr1:67390426delT ENST00000371026.3 - 1 144 c.89delA c.(88-90)agfs p.K30fs WDR78_ENST00000371022.3_Frame_Shift_Del_p.K30fs|WDR78_ENST00000371023.3_Frame_Shift_Del_p.K30fs|WDR78_ENST00000431318.1_5'UTR NM_024763.4 NP_079039.4 Q5VTH9 WDR78_HUMAN WD repeat domain 78 30 NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3) 32 GCACCACCCCTTTTTTTGGCC 0.622 7 536 --- --- --- --- RP11-343N15.1 0 broad.mit.edu 37 1 121137698 121137699 + RNA INS - - TT rs57730437 TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr1:121137698_121137699insTT ENST00000437515.1 - 0 329 CTACTTACATCTTTTTGTCTTT 0.441 17 146 --- --- --- --- ANKRD20A12P 0 broad.mit.edu 37 1 142716575 142716578 + RNA DEL AAAC AAAC - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr1:142716575_142716578delAAAC ENST00000595144.1 - 0 418 catctcagaaaaacaaacaaacaa 0.422 8 215 --- --- --- --- SEC22B 9554 broad.mit.edu 37 1 145116147 145116148 + RNA INS - - A rs138980379 TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr1:145116147_145116148insA ENST00000453618.1 + 0 1233_1234 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding AGTAGATTGTTATTTCGTTTTT 0.416 9 19 --- --- --- --- NOS1AP 9722 broad.mit.edu 37 1 162326888 162326890 + In_Frame_Del DEL CAG CAG - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr1:162326888_162326890delCAG ENST00000361897.5 + 8 1303_1305 c.901_903delCAG c.(901-903)del p.Q306del NOS1AP_ENST00000530878.1_In_Frame_Del_p.Q301del NM_001164757.1|NM_014697.2 NP_001158229.1|NP_055512.1 O75052 CAPON_HUMAN nitric oxide synthase 1 (neuronal) adaptor protein 306 Poly-Gln. regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity nitric-oxide synthase binding|PDZ domain binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2) 32 all_hematologic(112;0.203) BRCA - Breast invasive adenocarcinoma(70;0.0537) gcagctcctccagcagcAGCAGC 0.611 11 434 --- --- --- --- DHX9 1660 broad.mit.edu 37 1 182845333 182845333 + Frame_Shift_Del DEL T T - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr1:182845333delT ENST00000367549.3 + 17 2074 c.1964delT c.(1963-1965)gtfs p.V655fs NM_001357.4 NP_001348.2 Q08211 DHX9_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 9 655 Helicase C-terminal. CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 49 GCTGTGTTGGTTTTTTTGCCT 0.378 8 895 --- --- --- --- SYT2 127833 broad.mit.edu 37 1 202573647 202573649 + In_Frame_Del DEL TTC TTC - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr1:202573647_202573649delTTC ENST00000367267.1 - 3 471_473 c.279_281delGAA c.(277-282)aac>aa p.KN93del RP11-569A11.1_ENST00000428573.1_RNA|SYT2_ENST00000367268.4_In_Frame_Del_p.KN93del NM_001136504.1 NP_001129976.1 Q8N9I0 SYT2_HUMAN synaptotagmin II 93 neurotransmitter secretion cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane protein binding|transporter activity p.N94S(1) NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1) 29 BRCA - Breast invasive adenocarcinoma(75;0.169) Botulinum Toxin Type B(DB00042) ctccttcttgttcttcttcttct 0.532 7 541 --- --- --- --- MTR 4548 broad.mit.edu 37 1 237024474 237024474 + Frame_Shift_Del DEL A A - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr1:237024474delA ENST00000366577.5 + 20 2487 c.2093delA c.(2092-2094)cafs p.Q698fs MTR_ENST00000535889.1_Intron NM_000254.2 NP_000245.2 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase 698 B12-binding N-terminal. nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 67 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117) OV - Ovarian serous cystadenocarcinoma(106;0.0106) KIRC - Kidney renal clear cell carcinoma(1967;0.248) Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116) AGGTTAAACCAAAAAAAATAT 0.308 13 434 --- --- --- --- OR2T2 401992 broad.mit.edu 37 1 248616705 248616711 + Frame_Shift_Del DEL TGCTGCG TGCTGCG - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr1:248616705_248616711delTGCTGCG ENST00000342927.3 + 1 629_635 c.607_613delTGCTGCG c.(607-615)tgfs p.CCV203fs NM_001004136.1 NP_001004136.1 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, member 2 203 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 37 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GATGTATGCCTGCTGCGTGCTGATGCT 0.527 34 192 --- --- --- --- ATP6V1C2 245973 broad.mit.edu 37 2 10917819 10917820 + Frame_Shift_Del DEL AG AG - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr2:10917819_10917820delAG ENST00000272238.4 + 11 1043_1044 c.934_935delAG c.(934-936)afs p.R312fs ATP6V1C2_ENST00000381661.3_Intron NM_001039362.1 NP_001034451.1 Q8NEY4 VATC2_HUMAN ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 312 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|proton-transporting V-type ATPase, V1 domain endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152) GCAGACCGACAGAGAGAGAGAG 0.604 12 390 --- --- --- --- ASXL2 55252 broad.mit.edu 37 2 26022304 26022306 + In_Frame_Del DEL CTG CTG - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr2:26022304_26022306delCTG ENST00000435504.4 - 5 644_646 c.351_353delCAG c.(349-354)agt>ag p.SS117del ASXL2_ENST00000336112.4_In_Frame_Del_p.SS89del|ASXL2_ENST00000272341.4_5'UTR|ASXL2_ENST00000497092.1_5'UTR Q76L83 ASXL2_HUMAN additional sex combs like 2 (Drosophila) 117 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCCACCATCACTGCTGCTGCTGC 0.463 9 591 --- --- --- --- TMEM131 23505 broad.mit.edu 37 2 98427639 98427639 + Frame_Shift_Del DEL T T - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr2:98427639delT ENST00000186436.5 - 18 2148 c.1920delA c.(1918-1920)aafs p.K640fs NM_015348.1 NP_056163.1 Q92545 TM131_HUMAN transmembrane protein 131 640 integral to membrane NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1) 57 TCCCCTCTAATTTTTTTGCAG 0.393 8 1081 --- --- --- --- RIF1 55183 broad.mit.edu 37 2 152320541 152320541 + Frame_Shift_Del DEL A A - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr2:152320541delA ENST00000243326.4 + 29 4990 c.4507delA c.(4507-4509)aafs p.K1505fs RIF1_ENST00000453091.2_Frame_Shift_Del_p.K1505fs|RIF1_ENST00000430328.2_Frame_Shift_Del_p.K1505fs|RIF1_ENST00000428287.2_Frame_Shift_Del_p.K1505fs|RIF1_ENST00000444746.2_Frame_Shift_Del_p.K1505fs Q5UIP0 RIF1_HUMAN RAP1 interacting factor homolog (yeast) 1505 cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding p.K1505fs*18(1) NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 97 BRCA - Breast invasive adenocarcinoma(221;0.0429) TGAACAAAATAAAAAAAAGGC 0.408 8 478 --- --- --- --- MARCH7 64844 broad.mit.edu 37 2 160604679 160604680 + Frame_Shift_Ins INS - - T TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr2:160604679_160604680insT ENST00000259050.3 + 5 1000_1001 c.878_879insT c.(877-879)attfs p.I293fs MARCH7_ENST00000409591.1_Frame_Shift_Ins_p.I255fs|MARCH7_ENST00000539065.1_Frame_Shift_Ins_p.I237fs|MARCH7_ENST00000409175.1_Frame_Shift_Ins_p.I293fs NM_022826.2 NP_073737.1 Q9H992 MARH7_HUMAN membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase 293 Ser-rich. ligase activity|zinc ion binding breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2) 18 ATGTCATCTACTTTTTTTTCAC 0.396 8 356 --- --- --- --- MLTK 0 broad.mit.edu 37 2 174097115 174097117 + In_Frame_Del DEL GCT GCT - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr2:174097115_174097117delGCT ENST00000375213.3 + 14 1209_1211 c.1131_1133delGCT c.(1129-1134)cgg>cg p.RL377del MLK7-AS1_ENST00000422703.1_RNA|MLTK_ENST00000409176.2_In_Frame_Del_p.RL377del|MLK7-AS1_ENST00000423106.2_RNA NM_016653.2 NP_057737.2 CAGGGAAGCGGCTGCTGCTGCTG 0.433 7 1290 --- --- --- --- CIR1 9541 broad.mit.edu 37 2 175213712 175213713 + Frame_Shift_Ins INS - - T TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr2:175213712_175213713insT ENST00000342016.3 - 10 957_958 c.865_866insA c.(865-867)acafs p.T289fs CIR1_ENST00000362053.5_3'UTR NM_004882.3 NP_004873.3 Q86X95 CIR1_HUMAN corepressor interacting with RBPJ, 1 289 Lys/Ser-rich. mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing nuclear speck protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1) 15 cttcctttgtatttttttttct 0.381 11 431 --- --- --- --- SLC11A1 6556 broad.mit.edu 37 2 219252307 219252307 + Frame_Shift_Del DEL T T - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr2:219252307delT ENST00000233202.6 + 7 931 c.591delT c.(589-591)gcfs p.A197fs SLC11A1_ENST00000539932.1_Frame_Shift_Del_p.A79fs NM_000578.3 NP_000569.3 P49279 NRAM1_HUMAN solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1 197 activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 19 Renal(207;0.0474) Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGCTGGAAGCTTTTTTTGGAC 0.448 11 2385 --- --- --- --- UGT1A8 0 broad.mit.edu 37 2 234526711 234526711 + Frame_Shift_Del DEL T T - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr2:234526711delT ENST00000373450.4 + 1 421 c.358delT c.(358-360)ttfs p.F121fs NM_019076.4 NP_061949.3 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3) 30 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008) TTTTAACTTATTTTTTTCGCA 0.373 7 1020 --- --- --- --- DLEC1 9940 broad.mit.edu 37 3 38162039 38162040 + Frame_Shift_Del DEL GA GA - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr3:38162039_38162040delGA ENST00000308059.6 + 34 4826_4827 c.4805_4806delGA c.(4804-4806)gfs p.G1602fs DLEC1_ENST00000452631.2_Frame_Shift_Del_p.G1605fs|DLEC1_ENST00000346219.3_Frame_Shift_Del_p.G1602fs Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 1602 negative regulation of cell proliferation cytoplasm NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 51 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) AGTGCGAGTGGAGAGAGAGAGA 0.579 7 292 --- --- --- --- ERC2 26059 broad.mit.edu 37 3 55733470 55733472 + In_Frame_Del DEL TGG TGG - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr3:55733470_55733472delTGG ENST00000288221.6 - 16 3036_3038 c.2781_2783delCCA c.(2779-2784)cat>ca p.HH931del NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 931 Poly-His. cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) gtggtggtgatggtggtggtggt 0.502 8 907 --- --- --- --- RP11-325B23.2 0 broad.mit.edu 37 3 98031434 98031434 + RNA DEL A A - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr3:98031434delA ENST00000508616.1 + 0 149 OR5H8P_ENST00000394191.2_RNA TTACAATCTTAAAAAAAAAAG 0.333 10 159 --- --- --- --- LNP1 348801 broad.mit.edu 37 3 100148586 100148588 + In_Frame_Del DEL GAT GAT - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr3:100148586_100148588delGAT ENST00000383693.3 + 2 1293_1295 c.13_15delGAT c.(13-15)del p.D10del LNP1_ENST00000489752.1_In_Frame_Del_p.D10del NM_001085451.1 NP_001078920.1 A1A4G5 LNP1_HUMAN leukemia NUP98 fusion partner 1 10 Poly-Asp. cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 6 GGAGCACAAAGATGATGATGATG 0.507 7 1294 --- --- --- --- ZBTB20 26137 broad.mit.edu 37 3 114069198 114069198 + Frame_Shift_Del DEL T T - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr3:114069198delT ENST00000462705.1 - 11 2329 c.1508delA c.(1507-1509)agfs p.K503fs ZBTB20_ENST00000471418.1_Frame_Shift_Del_p.K503fs|ZBTB20_ENST00000474710.1_Frame_Shift_Del_p.K576fs|ZBTB20_ENST00000357258.3_Frame_Shift_Del_p.K503fs|ZBTB20_ENST00000464560.1_Frame_Shift_Del_p.K503fs|ZBTB20_ENST00000481632.1_Frame_Shift_Del_p.K503fs|ZBTB20_ENST00000393785.2_Frame_Shift_Del_p.K503fs NM_001164343.1 NP_001157815.1 Q9HC78 ZBT20_HUMAN zinc finger and BTB domain containing 20 576 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) CTCATAAGGCTTTTTTTCGCC 0.577 7 710 --- --- --- --- TMCC1 23023 broad.mit.edu 37 3 129546680 129546682 + In_Frame_Del DEL GCA GCA - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr3:129546680_129546682delGCA ENST00000393238.3 - 3 880_882 c.540_542delTGC c.(538-543)gca>gc p.AA180del TMCC1_ENST00000426664.2_In_Frame_Del_p.AA66del NM_001017395.3 NP_001017395.2 O94876 TMCC1_HUMAN transmembrane and coiled-coil domain family 1 180 integral to membrane PLXND1/TMCC1(4) breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1) 25 TGGTAGACATgcagcagcagcag 0.483 8 274 --- --- --- --- MED12L 116931 broad.mit.edu 37 3 151148114 151148116 + In_Frame_Del DEL CAG CAG - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr3:151148114_151148116delCAG ENST00000474524.1 + 42 6369_6371 c.6331_6333delCAG c.(6331-6333)del p.Q2115del MED12L_ENST00000273432.4_In_Frame_Del_p.Q1779del NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 2115 Gln-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex p.Q2111E(1) NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GCAGCAGACCCAGCAGCAGCAGC 0.527 9 417 --- --- --- --- DHX36 170506 broad.mit.edu 37 3 154032977 154032978 + Frame_Shift_Ins INS - - T TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr3:154032977_154032978insT ENST00000496811.1 - 3 540_541 c.460_461insA c.(460-462)gttfs p.V154fs DHX36_ENST00000308361.6_Frame_Shift_Ins_p.V154fs|DHX36_ENST00000329463.5_Frame_Shift_Ins_p.V154fs|DHX36_ENST00000544526.1_Frame_Shift_Ins_p.V154fs NM_020865.2 NP_065916.2 Q9H2U1 DHX36_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 36 154 cytoplasm|nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1) 35 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) GATTCTAAACATTTTTTTTTCT 0.337 8 277 --- --- --- --- FXR1 0 broad.mit.edu 37 3 180666228 180666228 + Frame_Shift_Del DEL A A - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr3:180666228delA ENST00000357559.4 + 5 748 c.364delA c.(364-366)aafs p.K123fs FXR1_ENST00000491062.1_Frame_Shift_Del_p.K74fs|FXR1_ENST00000468861.1_Frame_Shift_Del_p.K38fs|FXR1_ENST00000480918.1_Frame_Shift_Del_p.K110fs|FXR1_ENST00000445140.2_Frame_Shift_Del_p.K123fs|FXR1_ENST00000305586.7_Frame_Shift_Del_p.K38fs NM_001013438.2|NM_005087.3 NP_001013456.1|NP_005078.2 P51114 FXR1_HUMAN fragile X mental retardation, autosomal homolog 1 123 apoptosis|cell differentiation|muscle organ development nucleolus|polysome p.N124fs*14(1) breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2) 26 all_cancers(143;6.07e-14)|Ovarian(172;0.0212) Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22) TAAAACTGTCAAAAAAAATAC 0.333 10 330 --- --- --- --- EIF4G1 1981 broad.mit.edu 37 3 184039744 184039746 + In_Frame_Del DEL GAA GAA - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr3:184039744_184039746delGAA ENST00000342981.4 + 9 1786_1788 c.1372_1374delGAA c.(1372-1374)del p.E465del EIF4G1_ENST00000434061.2_In_Frame_Del_p.E269del|EIF4G1_ENST00000411531.1_In_Frame_Del_p.E425del|EIF4G1_ENST00000392537.2_In_Frame_Del_p.E378del|EIF4G1_ENST00000441154.1_In_Frame_Del_p.E301del|EIF4G1_ENST00000382330.3_In_Frame_Del_p.E472del|EIF4G1_ENST00000424196.1_In_Frame_Del_p.E472del|EIF4G1_ENST00000352767.3_In_Frame_Del_p.E472del|EIF4G1_ENST00000350481.5_In_Frame_Del_p.E301del|EIF4G1_ENST00000414031.1_In_Frame_Del_p.E425del|EIF4G1_ENST00000435046.2_In_Frame_Del_p.E269del|EIF4G1_ENST00000427845.1_In_Frame_Del_p.E378del|EIF4G1_ENST00000319274.6_In_Frame_Del_p.E465del|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000346169.2_In_Frame_Del_p.E465del NM_182917.4 NP_886553.3 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 gamma, 1 465 Poly-Glu. insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 75 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GGAGGAAATGgaagaagaagaag 0.562 8 504 --- --- --- --- SEC31A 22872 broad.mit.edu 37 4 83785564 83785565 + Frame_Shift_Ins INS - - T TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr4:83785564_83785565insT ENST00000432794.1 - 11 1547_1548 c.1384_1385insA c.(1384-1386)tgafs p.*462fs SEC31A_ENST00000513858.1_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000509142.1_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000508502.1_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000505984.1_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000505472.1_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000500777.2_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000448323.1_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000395310.2_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000355196.2_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000348405.4_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000326950.5_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000311785.7_Frame_Shift_Ins_p.*462fs|SEC31A_ENST00000264405.5_Frame_Shift_Ins_p.*234fs|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000443462.2_Frame_Shift_Ins_p.*457fs|SEC31A_ENST00000508479.1_Frame_Shift_Ins_p.*462fs O94979 SC31A_HUMAN SEC31 homolog A (S. cerevisiae) 462 Interaction with SEC13. COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm calcium-dependent protein binding p.I462fs*16(2) SEC31A/ALK(3)|SEC31A/JAK2(4) breast(1) 1 Hepatocellular(203;0.114) AGAAGCATCAATTTTTTTTTGG 0.356 10 321 --- --- --- --- NAP1L5 266812 broad.mit.edu 37 4 89618431 89618433 + In_Frame_Del DEL CCT CCT - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr4:89618431_89618433delCCT ENST00000323061.5 - 1 953_955 c.473_475delAGG c.(472-477)gct>g p.EA158del HERC3_ENST00000264345.3_Intron|HERC3_ENST00000543130.1_Intron|HERC3_ENST00000402738.1_Intron NM_153757.2 NP_715638.1 Q96NT1 NP1L5_HUMAN nucleosome assembly protein 1-like 5 158 Glu-rich. nucleosome assembly nucleus protein binding endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 7 OV - Ovarian serous cystadenocarcinoma(123;0.000181) TCTGCCGCAGcctcctcctcctc 0.626 8 646 --- --- --- --- NAP1L5 266812 broad.mit.edu 37 4 89618484 89618486 + In_Frame_Del DEL TCC TCC - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr4:89618484_89618486delTCC ENST00000323061.5 - 1 900_902 c.420_422delGGA c.(418-423)gaa>ga p.EE142del HERC3_ENST00000264345.3_Intron|HERC3_ENST00000543130.1_Intron|HERC3_ENST00000402738.1_Intron NM_153757.2 NP_715638.1 Q96NT1 NP1L5_HUMAN nucleosome assembly protein 1-like 5 142 Glu-rich. nucleosome assembly nucleus protein binding endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 7 OV - Ovarian serous cystadenocarcinoma(123;0.000181) gtactcctcttcctcctcctcct 0.606 13 431 --- --- --- --- SCLT1 132320 broad.mit.edu 37 4 129864162 129864163 + Frame_Shift_Ins INS - - T TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr4:129864162_129864163insT ENST00000281142.5 - 17 2123_2124 c.1620_1621insA c.(1618-1623)aaccaafs p.NQ540fs SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000503215.1_Intron NM_144643.2 NP_653244.2 Q96NL6 SCLT1_HUMAN sodium channel and clathrin linker 1 540 centrosome central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1) 29 TTTACTTTGGCTTTTTTTTGAG 0.356 8 547 --- --- --- --- SORBS2 8470 broad.mit.edu 37 4 186544620 186544622 + In_Frame_Del DEL GGT GGT - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr4:186544620_186544622delGGT ENST00000431808.1 - 14 2512_2514 c.1949_1951delACC c.(1948-1953)cgc>c p.HR650del SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000355634.5_In_Frame_Del_p.HR750del|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000284776.7_In_Frame_Del_p.HR650del|SORBS2_ENST00000418609.1_In_Frame_Del_p.HR554del|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000449407.2_Intron O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 650 His-rich. actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 53 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) ATGAggtggcggtggtggtggtg 0.522 9 406 --- --- --- --- MYO10 4651 broad.mit.edu 37 5 16676227 16676227 + Frame_Shift_Del DEL A A - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr5:16676227delA ENST00000513610.1 - 34 5033 c.4579delT c.(4579-4581)acfs p.Y1527fs MYO10_ENST00000427430.2_Frame_Shift_Del_p.Y884fs|MYO10_ENST00000505695.1_Frame_Shift_Del_p.Y866fs|MYO10_ENST00000515803.1_Frame_Shift_Del_p.Y866fs|MYO10_ENST00000274203.9_Frame_Shift_Del_p.Y884fs NM_012334.2 NP_036466.2 Q9HD67 MYO10_HUMAN myosin X 1527 axon guidance|signal transduction myosin complex actin binding|ATP 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 TTCCGCTTGTAAATCTGTTCC 0.448 145 237 --- --- --- --- PPARGC1B 133522 broad.mit.edu 37 5 149216400 149216402 + In_Frame_Del DEL CAG CAG - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr5:149216400_149216402delCAG ENST00000309241.5 + 8 2414_2416 c.2382_2384delCAG c.(2380-2385)gac>ga p.DS794del PPARGC1B_ENST00000394320.3_In_Frame_Del_p.DS794del|PPARGC1B_ENST00000403750.1_In_Frame_Del_p.DS730del|PPARGC1B_ENST00000360453.4_In_Frame_Del_p.DS755del NM_133263.3 NP_573570.3 Q86YN6 PRGC2_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 beta 794 Glu-rich. estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter mediator complex AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity p.S795N(1) NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) TCTTTGAAGACAGCAGCAGCAGC 0.601 12 609 --- --- --- --- MAS1L 116511 broad.mit.edu 37 6 29455156 29455157 + Frame_Shift_Del DEL AC AC - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr6:29455156_29455157delAC ENST00000377127.3 - 1 581_582 c.523_524delGT c.(523-525)cfs p.V175fs NM_052967.1 NP_443199.1 P35410 MAS1L_HUMAN MAS1 oncogene-like 175 cytoplasm|integral to membrane|nucleus|plasma membrane G-protein coupled receptor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2) 28 GGGGAAGAGGACACACACACAC 0.495 9 306 --- --- --- --- ZNRD1-AS1 0 broad.mit.edu 37 6 29977389 29977393 + RNA DEL CTTCT CTTCT - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr6:29977389_29977393delCTTCT ENST00000376797.3 - 0 731 ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA AGAACCCTGACTTCTCTTTCTGCAA 0.488 10 154 --- --- --- --- MDFI 4188 broad.mit.edu 37 6 41621169 41621171 + In_Frame_Del DEL CTG CTG - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr6:41621169_41621171delCTG ENST00000373050.4 + 4 601_603 c.414_416delCTG c.(412-417)ctc>ct p.LC138del Q99750 MDFI_HUMAN MyoD family inhibitor 199 cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway cytoplasm|nucleus endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1) 8 Ovarian(28;0.0327)|Colorectal(47;0.121) Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138) ACTCGTGCCTCTGCTGCTGCTGC 0.655 14 405 --- --- --- --- LPAL2 0 broad.mit.edu 37 6 160931971 160931972 + RNA INS - - A TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr6:160931971_160931972insA ENST00000335388.5 - 0 166 NR_028092.1 large_intestine(1)|lung(4) 5 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) AATTATTACACAAAAAAAACTA 0.322 8 548 --- --- --- --- INHBA 3624 broad.mit.edu 37 7 41729741 41729743 + In_Frame_Del DEL TTC TTC - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr7:41729741_41729743delTTC ENST00000242208.4 - 3 1032_1034 c.786_788delGAA c.(784-789)aaa>aa p.KK262del AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000442711.1_In_Frame_Del_p.KK262del|INHBA_ENST00000464515.1_5'UTR NM_002192.2 NP_002183.1 P08476 INHBA_HUMAN inhibin, beta A 262 cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway activin A complex|inhibin A complex cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 ctcctcttctttcttcttcttct 0.581 TSP Lung(11;0.080) 7 394 --- --- --- --- PURB 5814 broad.mit.edu 37 7 44924131 44924131 + Frame_Shift_Del DEL A A - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr7:44924131delA ENST00000395699.2 - 1 829 c.817delT c.(817-819)gcfs p.C273fs NM_033224.3 NP_150093.1 Q96QR8 PURB_HUMAN purine-rich element binding protein B 273 regulation of myeloid cell differentiation DNA replication factor A complex mRNA binding|single-stranded DNA binding|transcription factor binding large_intestine(2)|lung(3)|prostate(1)|skin(1) 7 GCATACCGGCAAAAGGCGCCT 0.582 7 1069 --- --- --- --- ABCA13 154664 broad.mit.edu 37 7 48318519 48318519 + Frame_Shift_Del DEL A A - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr7:48318519delA ENST00000435803.1 + 18 7752 c.7728delA c.(7726-7728)ttfs p.L2576fs NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 2576 transport integral to membrane ATP binding|ATPase activity p.L2576F(3)|p.L2521F(2) breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 TAGCTACTTTAAAAAAAATAG 0.313 7 690 --- --- --- --- ZNF733P 0 broad.mit.edu 37 7 62753023 62753024 + RNA DEL AT AT - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr7:62753023_62753024delAT ENST00000331425.6 - 0 411_412 NR_003952.1 GTTGACAAACATTGGTTAACTT 0.312 8 91 --- --- --- --- CCT6P3 0 broad.mit.edu 37 7 64528813 64528814 + RNA INS - - T TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr7:64528813_64528814insT ENST00000426828.1 + 0 621 NR_033416.1 CTTTCTGTAACTTTTTTTTTTT 0.317 19 108 --- --- --- --- CCT6P1 0 broad.mit.edu 37 7 65226569 65226569 + RNA DEL T T - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr7:65226569delT ENST00000442266.1 + 0 1167 gcccggccCCttttttttttt 0.413 11 24 --- --- --- --- TYW1B 441250 broad.mit.edu 37 7 72040750 72040751 + RNA INS - - A rs72347331 TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr7:72040750_72040751insA ENST00000438125.1 - 0 1399 Q6NUM6 TYW1B_HUMAN tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity AACATCCCTAGAAAAAAAAAAT 0.332 8 290 --- --- --- --- PMS2P3 0 broad.mit.edu 37 7 75145720 75145721 + RNA DEL AT AT - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr7:75145720_75145721delAT ENST00000418756.1 - 0 618 NR_028059.1 lung(1) 1 TCCTTTGGGGatatatatatat 0.302 11 42 --- --- --- --- SAMD9L 219285 broad.mit.edu 37 7 92760737 92760738 + Frame_Shift_Ins INS - - T rs10282508 byFrequency TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr7:92760737_92760738insT ENST00000318238.4 - 5 5763_5764 c.4547_4548insA c.(4546-4548)agafs p.R1516fs SAMD9L_ENST00000411955.1_Frame_Shift_Ins_p.R1516fs|SAMD9L_ENST00000437805.1_Frame_Shift_Ins_p.R1516fs NM_152703.2 NP_689916.2 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 1516 N -> T (in dbSNP:rs10282508). central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) CTTTGACTTCATTTTTTTTCCA 0.391 7 816 --- --- --- --- TRIM4 89122 broad.mit.edu 37 7 99506323 99506325 + In_Frame_Del DEL TCT TCT - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr7:99506323_99506325delTCT ENST00000355947.2 - 4 807_809 c.678_680delAGA c.(676-681)gag>ga p.EE226del TRIM4_ENST00000354241.5_In_Frame_Del_p.EE200del|TRIM4_ENST00000349062.2_In_Frame_Del_p.EE200del NM_033017.3 NP_148977.2 Q9C037 TRIM4_HUMAN tripartite motif containing 4 226 protein trimerization cytoplasm|plasma membrane zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1) 17 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) Ovarian(593;0.238) CTTCTTCGTCTCTTCTTCTTCTT 0.443 8 840 --- --- --- --- GIGYF1 64599 broad.mit.edu 37 7 100280978 100280980 + In_Frame_Del DEL CTG CTG - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr7:100280978_100280980delCTG ENST00000275732.5 - 18 3349_3351 c.2140_2142delCAG c.(2140-2142)del p.Q714del NM_022574.4 NP_072096.2 O75420 PERQ1_HUMAN GRB10 interacting GYF protein 1 714 central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) TCTGCTCCTCCTGCTGCTGCTGG 0.650 11 1268 --- --- --- --- SRRT 51593 broad.mit.edu 37 7 100482040 100482042 + In_Frame_Del DEL AGG AGG - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr7:100482040_100482042delAGG ENST00000388793.4 + 7 1029_1031 c.809_811delAGG c.(808-813)cag>c p.QE270del SRRT_ENST00000432932.1_In_Frame_Del_p.QE270del|SRRT_ENST00000457580.2_In_Frame_Del_p.QE270del|SRRT_ENST00000347433.4_In_Frame_Del_p.QE270del NM_001128852.1|NM_015908.5 NP_001122324.1|NP_056992.4 Q9BXP5 SRRT_HUMAN serrate RNA effector molecule homolog (Arabidopsis) 270 Glu-rich. cell proliferation|primary miRNA processing|response to arsenic-containing substance cytoplasm|nucleoplasm protein binding breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 ATCCTGGAGCAGGAGGAGGAGGA 0.596 8 228 --- --- --- --- POLR2J 5439 broad.mit.edu 37 7 102119254 102119256 + Splice_Site DEL CTT CTT - rs141678884 TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr7:102119254_102119256delCTT ENST00000292614.5 - 1 98_100 c.53_splice c.e1+1 p.K18_splice POLR2J_ENST00000393794.3_Splice_Site_p.K18_splice NM_006234.4 NP_006225.1 P52435 RPB11_HUMAN polymerase (RNA) II (DNA directed) polypeptide J, 13.3kDa 18 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|LRR domain binding|protein dimerization activity p.?(1) pancreas(2) 2 GCGTCACTTACTTCTTCTCGCCC 0.685 OREG0018232 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 217 --- --- --- --- SRPK2 6733 broad.mit.edu 37 7 104844170 104844172 + In_Frame_Del DEL GGT GGT - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr7:104844170_104844172delGGT ENST00000357311.3 - 2 270_272 c.99_101delACC c.(97-102)ccg>cc p.PP35del SRPK2_ENST00000393651.3_In_Frame_Del_p.PP46del|SRPK2_ENST00000489828.1_In_Frame_Del_p.PP35del NM_001278273.1|NM_182691.1 NP_001265202.1|NP_872633.1 P78362 SRPK2_HUMAN SRSF protein kinase 2 35 angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly cytoplasm|nucleolus 14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.P33P(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 35 CAAAggtggcggtggtggtggtg 0.552 7 162 --- --- --- --- PUS7 54517 broad.mit.edu 37 7 105142878 105142878 + Frame_Shift_Del DEL T T - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr7:105142878delT ENST00000356362.2 - 5 933 c.719delA c.(718-720)agfs p.K240fs PUS7_ENST00000469408.1_Frame_Shift_Del_p.K240fs NM_019042.3 NP_061915.2 Q96PZ0 PUS7_HUMAN pseudouridylate synthase 7 homolog (S. cerevisiae) 240 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1) 23 TGCCAAAGCCTTTTTCCCAGC 0.537 7 738 --- --- --- --- TRBV7-7 0 broad.mit.edu 37 7 142120214 142120215 + RNA DEL AC AC - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr7:142120214_142120215delAC ENST00000390377.1 - 0 49 acacatgcatacacacacacac 0.436 7 532 --- --- --- --- NOM1 64434 broad.mit.edu 37 7 156743209 156743211 + In_Frame_Del DEL GAG GAG - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr7:156743209_156743211delGAG ENST00000275820.3 + 1 793_795 c.778_780delGAG c.(778-780)del p.E264del NM_138400.1 NP_612409.1 Q5C9Z4 NOM1_HUMAN nucleolar protein with MIF4G domain 1 264 Glu-rich.|Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus. RNA metabolic process nucleolus protein binding endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 31 Ovarian(565;0.218) all_hematologic(28;0.0749) OV - Ovarian serous cystadenocarcinoma(82;0.00301) UCEC - Uterine corpus endometrioid carcinoma (81;0.169) ggacgaaagtgaggaggaggagg 0.552 10 385 --- --- --- --- SPIDR 23514 broad.mit.edu 37 8 48648055 48648057 + In_Frame_Del DEL GGT GGT - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr8:48648055_48648057delGGT ENST00000518074.1 + 19 2783_2785 c.2612_2614delGGT c.(2611-2616)ggg>g p.GW871del SPIDR_ENST00000517693.1_3'UTR|SPIDR_ENST00000541342.1_3'UTR|SPIDR_ENST00000297423.4_3'UTR|SPIDR_ENST00000518060.1_3'UTR|SPIDR_ENST00000521214.1_3'UTR scaffolding protein involved in DNA repair TGGCTGCAAGGGTGGTGGTGGTG 0.468 7 267 --- --- --- --- ZNF704 619279 broad.mit.edu 37 8 81733778 81733778 + Frame_Shift_Del DEL T T - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr8:81733778delT ENST00000327835.3 - 2 283 c.52delA c.(52-54)tgfs p.M18fs NM_001033723.2 NP_001028895.1 Q6ZNC4 ZN704_HUMAN zinc finger protein 704 18 intracellular zinc ion binding lung(9)|skin(1)|upper_aerodigestive_tract(1) 11 all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06) BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277) TGATGAGACATTTTTTTACCA 0.423 9 2111 --- --- --- --- UBR5 51366 broad.mit.edu 37 8 103291141 103291141 + Frame_Shift_Del DEL A A - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr8:103291141delA ENST00000520539.1 - 44 6807 c.6201delT c.(6199-6201)ttfs p.F2067fs UBR5_ENST00000220959.4_Frame_Shift_Del_p.F2067fs|UBR5_ENST00000521922.1_Frame_Shift_Del_p.F2061fs NM_015902.5 NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 2067 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) TTGGACGGCCAAAAAGATCCT 0.358 8 1241 --- --- --- --- OXR1 55074 broad.mit.edu 37 8 107704955 107704955 + Splice_Site DEL G G - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr8:107704955delG ENST00000445937.1 + 7 786 c.e7-1 OXR1_ENST00000452423.2_Splice_Site|OXR1_ENST00000517566.2_Splice_Site|OXR1_ENST00000442977.2_Splice_Site|OXR1_ENST00000312046.6_Splice_Site|OXR1_ENST00000531443.1_Splice_Site|OXR1_ENST00000497705.1_Splice_Site NM_018002.3 NP_060472.2 Q8N573 OXR1_HUMAN oxidation resistance 1 cell wall macromolecule catabolic process|response to oxidative stress mitochondrion NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 31 OV - Ovarian serous cystadenocarcinoma(57;1.81e-09) AAAAAAAAAAGAATCCTGATG 0.348 7 350 --- --- --- --- UTP23 84294 broad.mit.edu 37 8 117783760 117783760 + Frame_Shift_Del DEL C C - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr8:117783760delC ENST00000309822.2 + 3 530 c.429delC c.(427-429)aafs p.N143fs UTP23_ENST00000357148.3_Intron|UTP23_ENST00000520733.1_Intron|UTP23_ENST00000517820.1_Intron NM_032334.2 NP_115710.2 Q9BRU9 UTP23_HUMAN UTP23, small subunit (SSU) processome component, homolog (yeast) 143 rRNA processing nucleolus breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 12 TTATTCAGAACACTATGGTTT 0.348 27 785 --- --- --- --- MLLT3 4300 broad.mit.edu 37 9 20413952 20413952 + Frame_Shift_Del DEL T T - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr9:20413952delT ENST00000380338.4 - 5 1178 c.892delA c.(892-894)ggfs p.R298fs MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Frame_Shift_Del_p.R295fs|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 298 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) CTCTTTTTCCTTTTTTTGGCT 0.393 T MLL ALL 7 960 --- --- --- --- HRCT1 646962 broad.mit.edu 37 9 35906348 35906350 + In_Frame_Del DEL CTG CTG - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr9:35906348_35906350delCTG ENST00000354323.2 + 1 160_162 c.64_66delCTG c.(64-66)del p.L28del NM_001039792.1 NP_001034881.1 Q6UXD1 HRCT1_HUMAN histidine rich carboxyl terminus 1 28 integral to membrane NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1) 4 TGTGGCGGTCctgctgctgctgc 0.670 10 154 --- --- --- --- RAD23B 5887 broad.mit.edu 37 9 110064366 110064366 + Frame_Shift_Del DEL A A - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr9:110064366delA ENST00000358015.3 + 3 550 c.199delA c.(199-201)aafs p.K67fs RAD23B_ENST00000416373.2_5'UTR NM_001244713.1|NM_002874.4 NP_001231642.1|NP_002865.1 P54727 RD23B_HUMAN RAD23 homolog B (S. cerevisiae) 67 Ubiquitin-like. nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process cytoplasm|nucleoplasm|proteasome complex|XPC complex damaged DNA binding|polyubiquitin binding|single-stranded DNA binding breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 AATTGATGAGAAAAACTTTGT 0.303 Direct reversal of damage;Nucleotide excision repair (NER) 94 425 --- --- --- --- TSC1 0 broad.mit.edu 37 9 135771988 135771990 + In_Frame_Del DEL GCT GCT - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr9:135771988_135771990delGCT ENST00000298552.3 - 23 3348_3350 c.3127_3129delAGC c.(3127-3129)del p.S1043del TSC1_ENST00000440111.2_In_Frame_Del_p.S1043del|TSC1_ENST00000545250.1_In_Frame_Del_p.S992del NM_000368.4|NM_001162426.1|NM_001162427.1 NP_000359.1|NP_001155898.1|NP_001155899.1 Q92574 TSC1_HUMAN tuberous sclerosis 1 1043 Poly-Ser. activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus cell cortex|lamellipodium|membrane|TSC1-TSC2 complex chaperone binding|protein N-terminus binding p.S1043N(1)|p.?(1) NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 65 OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06) TAGAAAGCTCgctgctgctgctg 0.640 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 7 230 --- --- --- --- PCDH15 65217 broad.mit.edu 37 10 55587198 55587200 + In_Frame_Del DEL GGC GGC - rs12246234 TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr10:55587198_55587200delGGC ENST00000373965.2 - 33 4735_4737 c.4341_4343delGCC c.(4339-4344)cct>cc p.PP1449del PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000409834.1_In_Frame_Del_p.PP1053del|PCDH15_ENST00000395433.1_In_Frame_Del_p.PP1417del|PCDH15_ENST00000437009.1_In_Frame_Del_p.PP1371del|PCDH15_ENST00000395445.1_In_Frame_Del_p.PP1449del|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000414778.1_In_Frame_Del_p.PP1444del|PCDH15_ENST00000395432.2_In_Frame_Del_p.PP1402del|PCDH15_ENST00000395430.1_In_Frame_Del_p.PP1439del|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000320301.6_In_Frame_Del_p.PP1442del|PCDH15_ENST00000395438.1_In_Frame_Del_p.PP1442del|PCDH15_ENST00000361849.3_In_Frame_Del_p.PP1442del|PCDH15_ENST00000463095.1_5'UTR NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1442 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) ACCTggcggaggcggcggcggcg 0.571 HNSCC(58;0.16) 9 390 --- --- --- --- ARID5B 84159 broad.mit.edu 37 10 63852298 63852298 + Frame_Shift_Del DEL A A - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr10:63852298delA ENST00000279873.7 + 10 3486 c.3076delA c.(3076-3078)aafs p.K1027fs ARID5B_ENST00000309334.5_Frame_Shift_Del_p.K784fs NM_032199.2 NP_115575.1 Q14865 ARI5B_HUMAN AT rich interactive domain 5B (MRF1-like) 1027 liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent protein binding|transcription regulatory region DNA binding NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 Prostate(12;0.016)|all_hematologic(501;0.215) GATTGCAGGGAAAAAGGCCCG 0.607 7 517 --- --- --- --- IKZF5 64376 broad.mit.edu 37 10 124758126 124758127 + Frame_Shift_Ins INS - - T TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr10:124758126_124758127insT ENST00000368886.5 - 3 335_336 c.15_16insA c.(13-18)aacagafs p.NR5fs IKZF5_ENST00000479103.1_5'UTR NM_001271840.1 NP_001258769.1 Q9H5V7 IKZF5_HUMAN IKAROS family zinc finger 5 (Pegasus) 5 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|lung(3)|prostate(1) 6 all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222) Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754) AAAGGCTCTGGTTTTTTTTCAC 0.371 7 360 --- --- --- --- NLRP6 171389 broad.mit.edu 37 11 281553 281555 + In_Frame_Del DEL GAG GAG - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr11:281553_281555delGAG ENST00000534750.1 + 4 2024_2026 c.1819_1821delGAG c.(1819-1821)del p.E611del NLRP6_ENST00000312165.5_In_Frame_Del_p.E611del NM_001276700.1 NP_001263629.1 P59044 NALP6_HUMAN NLR family, pyrin domain containing 6 611 Poly-Glu. cytoplasm ATP binding breast(1)|skin(1)|upper_aerodigestive_tract(2) 4 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122) CGAAGAGCCAGAGGAGGAGGAGG 0.670 13 840 --- --- --- --- KRTAP5-5 439915 broad.mit.edu 37 11 1651191 1651199 + In_Frame_Del DEL GGCTGTGGA GGCTGTGGA - rs71025763 TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr11:1651191_1651199delGGCTGTGGA ENST00000399676.2 + 1 159_167 c.121_129delGGCTGTGGA c.(121-129)del p.GCG47del NM_001001480.2 NP_001001480.2 Q701N2 KRA55_HUMAN keratin associated protein 5-5 47 keratin filament endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1) 33 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) ctgtggctccggctgtggaggctgtgggg 0.713 15 511 --- --- --- --- OR10A2 341276 broad.mit.edu 37 11 6891253 6891255 + In_Frame_Del DEL TTC TTC - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr11:6891253_6891255delTTC ENST00000307322.4 + 1 330_332 c.268_270delTTC c.(268-270)del p.F94del NM_001004460.1 NP_001004460.1 Q9H208 O10A2_HUMAN olfactory receptor, family 10, subfamily A, member 2 94 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1) 24 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) TCAGATGTATTTCTTCTTCTTCT 0.517 8 851 --- --- --- --- SLC22A9 114571 broad.mit.edu 37 11 63149668 63149669 + Frame_Shift_Ins INS - - A TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr11:63149668_63149669insA ENST00000279178.3 + 6 1241_1242 c.992_993insA c.(991-993)gcafs p.A331fs SLC22A9_ENST00000310969.4_3'UTR NM_080866.2 NP_543142.2 Q8IVM8 S22A9_HUMAN solute carrier family 22 (organic anion transporter), member 9 331 transmembrane transport integral to membrane breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 18 CTGGAGGCAGCACAAAAAAAAA 0.406 10 474 --- --- --- --- C11orf95 65998 broad.mit.edu 37 11 63533335 63533337 + RNA DEL TCC TCC - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr11:63533335_63533337delTCC ENST00000433688.1 - 0 597_599 C9JLR9 CK095_HUMAN chromosome 11 open reading frame 95 intracellular zinc ion binding ctcctcttcttcctcctcctcct 0.670 2 4 --- --- --- --- FAU 2197 broad.mit.edu 37 11 64888248 64888250 + In_Frame_Del DEL TCT TCT - rs1065065 TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr11:64888248_64888250delTCT ENST00000529639.1 - 5 696_698 c.305_307delAGA c.(304-309)aca>a p.KT102del FAU_ENST00000279259.3_In_Frame_Del_p.ED83del|FAU_ENST00000525297.1_In_Frame_Del_p.KT67del|FAU_ENST00000531743.1_In_Frame_Del_p.KT102del|FAU_ENST00000529259.1_3'UTR|FAU_ENST00000527548.1_In_Frame_Del_p.KT102del NM_001997.4 NP_001988.1 P35544 UBIM_HUMAN Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously expressed 0 NS(3)|kidney(1)|large_intestine(2) 6 GCCCGACCTGTCTTCTTCTTCTT 0.542 13 399 --- --- --- --- UVRAG 7405 broad.mit.edu 37 11 75694430 75694431 + Splice_Site INS - - A TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr11:75694430_75694431insA ENST00000356136.3 + 8 940_941 c.e8-1 UVRAG_ENST00000532130.1_Splice_Site|UVRAG_ENST00000531818.1_Splice_Site|UVRAG_ENST00000533454.1_Splice_Site|UVRAG_ENST00000528420.1_Splice_Site NM_003369.3 NP_003360.2 Q9P2Y5 UVRAG_HUMAN UV radiation resistance associated DNA repair|positive regulation of autophagy early endosome|late endosome|lysosome protein binding central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2) 32 TATTTATTTAGAAAAAAAAAAG 0.302 8 149 --- --- --- --- IFFO1 25900 broad.mit.edu 37 12 6649704 6649706 + In_Frame_Del DEL GGC GGC - rs144019095 TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr12:6649704_6649706delGGC ENST00000436152.2 - 11 1273_1275 c.714_716delGCC c.(712-717)cca>cc p.PP238del IFFO1_ENST00000356896.4_In_Frame_Del_p.PP545del|IFFO1_ENST00000465801.1_In_Frame_Del_p.PP237del|IFFO1_ENST00000336604.4_In_Frame_Del_p.PP544del|IFFO1_ENST00000396840.2_In_Frame_Del_p.PP541del Q0D2I5 IFFO1_HUMAN intermediate filament family orphan 1 541 intermediate filament central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 20 AGCCTCGCTTGGCGGCGGCGGCG 0.601 10 1280 --- --- --- --- ACSM4 341392 broad.mit.edu 37 12 7456934 7456935 + Frame_Shift_Ins INS - - T TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr12:7456934_7456935insT ENST00000399422.4 + 1 55_56 c.7_8insT c.(7-9)tttfs p.F3fs NM_001080454.1 NP_001073923.1 P0C7M7 ACSM4_HUMAN acyl-CoA synthetase medium-chain family member 4 3 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding endometrium(6)|kidney(1)|lung(14) 21 AACCATGAAGATTTTTTTCCGC 0.475 7 2251 --- --- --- --- PRB2 653247 broad.mit.edu 37 12 11546320 11546322 + In_Frame_Del DEL TTG TTG - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr12:11546320_11546322delTTG ENST00000389362.4 - 3 725_727 c.690_692delCAA c.(688-693)aag>aa p.NK230del PRB1_ENST00000546254.1_Intron NM_006248.3 NP_006239.3 proline-rich protein BstNI subfamily 2 NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) ACTTTGGGACTTGTTGTCTCCTT 0.601 9 1623 --- --- --- --- OR10A7 121364 broad.mit.edu 37 12 55615114 55615116 + In_Frame_Del DEL CTT CTT - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr12:55615114_55615116delCTT ENST00000326258.1 + 1 306_308 c.306_308delCTT c.(304-309)tac>ta p.YF102del NM_001005280.1 NP_001005280.1 Q8NGE5 O10A7_HUMAN olfactory receptor, family 10, subfamily A, member 7 102 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3) 24 CCCAGATGTACTTCTTCTTCTTC 0.414 11 1215 --- --- --- --- CUX2 23316 broad.mit.edu 37 12 111758235 111758237 + In_Frame_Del DEL TCC TCC - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr12:111758235_111758237delTCC ENST00000261726.6 + 17 2576_2578 c.2422_2424delTCC c.(2422-2424)del p.S813del NM_015267.3 NP_056082.2 O14529 CUX2_HUMAN cut-like homeobox 2 813 Poly-Ser. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 GCCCTCGCTGTCCTCCTCCTCCT 0.749 9 204 --- --- --- --- EEF1DP3 0 broad.mit.edu 37 13 32527507 32527508 + RNA DEL GT GT - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr13:32527507_32527508delGT ENST00000428783.1 + 0 1207_1208 TCTGGCCTGAGTGTGTGTGTGT 0.460 8 277 --- --- --- --- RP11-597A11.1 0 broad.mit.edu 37 14 20086382 20086383 + RNA INS - - AAAA TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr14:20086382_20086383insAAAA ENST00000548261.1 + 0 135 TCTTACAAGGTAAAAAAAATGA 0.312 10 51 --- --- --- --- IL25 0 broad.mit.edu 37 14 23845057 23845058 + Frame_Shift_Del DEL TG TG - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr14:23845057_23845058delTG ENST00000329715.2 + 2 760_761 c.502_503delTG c.(502-504)tfs p.C168fs IL25_ENST00000397242.2_Frame_Shift_Del_p.C152fs NM_022789.3 NP_073626.1 Q9H293 IL25_HUMAN interleukin 25 168 inflammatory response extracellular space|membrane cytokine activity|interleukin-17E receptor binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 9 all_cancers(95;2e-05) GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396) TTCCTTAGCTTGTGTGTGTGTG 0.604 11 655 --- --- --- --- ELMSAN1 91748 broad.mit.edu 37 14 74205926 74205928 + In_Frame_Del DEL CTG CTG - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr14:74205926_74205928delCTG ENST00000286523.5 - 2 1566_1568 c.784_786delCAG c.(784-786)del p.Q262del ELMSAN1_ENST00000394071.2_In_Frame_Del_p.Q262del NM_194278.3 NP_919254.2 ELM2 and Myb/SANT-like domain containing 1 GTAGGgctgcctgctgctgctgc 0.650 7 135 --- --- --- --- CHGA 1113 broad.mit.edu 37 14 93397924 93397926 + In_Frame_Del DEL GAG GAG - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr14:93397924_93397926delGAG ENST00000216492.5 + 6 965_967 c.685_687delGAG c.(685-687)del p.E236del CHGA_ENST00000334654.4_Intron|CHGA_ENST00000553866.1_3'UTR NM_001275.3 NP_001266.1 P10645 CMGA_HUMAN chromogranin A (parathyroid secretory protein 1) 236 regulation of blood pressure extracellular region|stored secretory granule cervix(1)|large_intestine(1)|lung(3)|skin(3) 8 all_cancers(154;0.0843) Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224) AAAGAGAgaagaggaggaggagg 0.645 7 180 --- --- --- --- NARG2 79664 broad.mit.edu 37 15 60745782 60745782 + Frame_Shift_Del DEL A A - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr15:60745782delA ENST00000561114.1 - 9 1307 c.1145delT c.(1144-1146)tcfs p.F382fs NARG2_ENST00000439632.1_Intron|NARG2_ENST00000261520.4_Intron NM_001276385.1 NP_001263314.1 Q659A1 NARG2_HUMAN NMDA receptor regulated 2 0 nucleus breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 32 CCCTTAGGGGAAAAAAAAAGC 0.338 7 248 --- --- --- --- NOX5 79400 broad.mit.edu 37 15 69331226 69331226 + Frame_Shift_Del DEL T T - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr15:69331226delT ENST00000260364.5 + 10 1648 c.1347delT c.(1345-1347)ccfs p.P449fs NOX5_ENST00000530406.2_Frame_Shift_Del_p.P439fs|NOX5_ENST00000388866.3_Frame_Shift_Del_p.P467fs|RP11-809H16.4_ENST00000559495.1_RNA|NOX5_ENST00000455873.3_Frame_Shift_Del_p.P432fs|NOX5_ENST00000448182.3_Frame_Shift_Del_p.P421fs Q96PH1 NOX5_HUMAN NADPH oxidase, EF-hand calcium binding domain 5 467 C-terminal catalytic region.|FAD-binding FR-type. angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation endoplasmic reticulum|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity p.H452fs*10(1) breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 AGCGGCCCCCTTTTTTTCACT 0.537 7 694 --- --- --- --- TLE3 7090 broad.mit.edu 37 15 70351067 70351068 + Frame_Shift_Ins INS - - G TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr15:70351067_70351068insG ENST00000558939.1 - 11 2229_2230 c.852_853insC c.(850-855)ccccagfs p.Q285fs TLE3_ENST00000317509.8_Frame_Shift_Ins_p.Q285fs|TLE3_ENST00000559048.1_Frame_Shift_Ins_p.Q290fs|TLE3_ENST00000559191.1_Intron|TLE3_ENST00000442299.2_Frame_Shift_Ins_p.Q285fs|TLE3_ENST00000451782.2_Frame_Shift_Ins_p.Q285fs|TLE3_ENST00000558379.1_Frame_Shift_Ins_p.Q285fs|TLE3_ENST00000557907.1_Frame_Shift_Ins_p.Q285fs|TLE3_ENST00000560939.1_Frame_Shift_Ins_p.Q290fs|TLE3_ENST00000560589.1_Frame_Shift_Ins_p.Q229fs|TLE3_ENST00000559929.1_Frame_Shift_Ins_p.Q295fs|TLE3_ENST00000557997.1_Frame_Shift_Ins_p.Q285fs|TLE3_ENST00000539550.1_Frame_Shift_Ins_p.Q229fs|TLE3_ENST00000440567.3_Frame_Shift_Ins_p.Q278fs|TLE3_ENST00000558201.1_Frame_Shift_Ins_p.Q291fs Q04726 TLE3_HUMAN transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila) 285 Pro/Ser-rich. organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 GCAGGGCTGGTGGGGGCATCTT 0.604 14 58 --- --- --- --- RP11-266O8.1 0 broad.mit.edu 37 15 93974509 93974510 + RNA DEL TC TC - rs57286078 TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr15:93974509_93974510delTC ENST00000543286.1 + 0 545 TTGGCTGGGTTCtttttttttt 0.431 11 196 --- --- --- --- ARHGAP17 55114 broad.mit.edu 37 16 24942180 24942180 + Frame_Shift_Del DEL G G - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr16:24942180delG ENST00000289968.6 - 19 2509 c.2440delC c.(2440-2442)aafs p.Q814fs ARHGAP17_ENST00000303665.5_Frame_Shift_Del_p.Q736fs|ARHGAP17_ENST00000441763.2_3'UTR NM_001006634.1 NP_001006635.1 Q68EM7 RHG17_HUMAN Rho GTPase activating protein 17 814 Pro-rich. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|tight junction GTPase activator activity|SH3 domain binding breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2) 30 GBM - Glioblastoma multiforme(48;0.0407) CCAGGAGGTTGGGGGGGTGGG 0.577 8 1388 --- --- --- --- IL4R 3566 broad.mit.edu 37 16 27373787 27373789 + In_Frame_Del DEL GAG GAG - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr16:27373787_27373789delGAG ENST00000395762.2 + 11 1373_1375 c.1114_1116delGAG c.(1114-1116)del p.E376del IL4R_ENST00000170630.2_In_Frame_Del_p.E376del|IL4R_ENST00000380922.3_In_Frame_Del_p.E361del|IL4R_ENST00000565915.1_3'UTR|IL4R_ENST00000543915.2_In_Frame_Del_p.E376del NM_000418.3 NP_000409.1 P24394 IL4RA_HUMAN interleukin 4 receptor 376 Poly-Glu. immune response|production of molecular mediator involved in inflammatory response integral to plasma membrane identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 33 GGTGGAGTGTGAGGAGGAGGAGG 0.591 7 370 --- --- --- --- SLC6A10P 0 broad.mit.edu 37 16 32896136 32896137 + RNA DEL TG TG - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr16:32896136_32896137delTG ENST00000330048.5 - 0 233 NR_003083.2 agtggCCCATtgtgtgtgtgtg 0.678 4 5 --- --- --- --- KRT17P1 0 broad.mit.edu 37 17 16748911 16748913 + RNA DEL GCT GCT - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr17:16748911_16748913delGCT ENST00000580363.1 - 0 282_284 lung(4) 4 CGCCCTCAAAGCTGCTGCTGCCA 0.650 13 34 --- --- --- --- EPN2 22905 broad.mit.edu 37 17 19232950 19232950 + Frame_Shift_Del DEL A A - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr17:19232950delA ENST00000314728.5 + 9 1885 c.1401delA c.(1399-1401)tcfs p.S467fs EPN2_ENST00000575595.1_Frame_Shift_Del_p.S175fs|EPN2_ENST00000571254.1_Frame_Shift_Del_p.S403fs|EPN2_ENST00000395626.1_Frame_Shift_Del_p.S467fs|EPN2_ENST00000347697.2_Frame_Shift_Del_p.S410fs|EPN2_ENST00000395618.3_Frame_Shift_Del_p.S182fs|EPN2_ENST00000395620.2_Frame_Shift_Del_p.S410fs NM_014964.4 NP_055779.2 O95208 EPN2_HUMAN epsin 2 467 6 X 3 AA repeats of [DE]-P-W. endocytosis lipid binding p.T470fs*19(1) breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 19 all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143) TTCGGACTTCAAAAAAAACAG 0.393 11 419 --- --- --- --- SUPT6H 6830 broad.mit.edu 37 17 27027202 27027204 + In_Frame_Del DEL AGC AGC - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr17:27027202_27027204delAGC ENST00000314616.6 + 34 4856_4858 c.4573_4575delAGC c.(4573-4575)del p.S1528del SUPT6H_ENST00000347486.4_In_Frame_Del_p.S1528del NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 1528 Poly-Ser. chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) CATCACCCCTAGCAGCAGCAGCA 0.537 14 1102 --- --- --- --- SUZ12P 0 broad.mit.edu 37 17 29096087 29096087 + RNA DEL T T - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr17:29096087delT ENST00000582557.1 + 0 1381 ATATTGGTAATTTTTTTTTTT 0.343 7 110 --- --- --- --- GAS2L2 246176 broad.mit.edu 37 17 34071994 34071996 + In_Frame_Del DEL TCC TCC - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr17:34071994_34071996delTCC ENST00000254466.6 - 6 2547_2549 c.2520_2522delGGA c.(2518-2523)gaa>ga p.EE840del GAS2L2_ENST00000587565.1_In_Frame_Del_p.EE824del NM_139285.3 NP_644814.1 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 840 cell cycle arrest cytoplasm|cytoskeleton central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) ctcctttccttcctcctcctcct 0.616 9 230 --- --- --- --- KRT10 3858 broad.mit.edu 37 17 38975362 38975370 + In_Frame_Del DEL GCCGCCGTA GCCGCCGTA - rs35710360 TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr17:38975362_38975370delGCCGCCGTA ENST00000269576.5 - 7 1426_1434 c.1417_1425delTACGGCGGC c.(1417-1425)del p.YGG473del NM_000421.3 NP_000412.3 P13645 K1C10_HUMAN keratin 10 473 Gly-rich.|Tail. epidermis development protein binding|structural constituent of epidermis NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1) 11 Breast(137;0.000301) cggagcttccgccgccgtagccgccgccg 0.713 11 49 --- --- --- --- BZRAP1 9256 broad.mit.edu 37 17 56387404 56387406 + In_Frame_Del DEL TCC TCC - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr17:56387404_56387406delTCC ENST00000355701.3 - 21 4683_4685 c.3813_3815delGGA c.(3811-3816)gaa>ga p.EE1273del BZRAP1_ENST00000268893.6_In_Frame_Del_p.EE1213del|BZRAP1_ENST00000343736.4_In_Frame_Del_p.EE1273del NM_001261835.1|NM_004758.3 NP_001248764.1|NP_004749.2 O95153 RIMB1_HUMAN benzodiazapine receptor (peripheral) associated protein 1 1273 Poly-Glu. mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) CAGctcctcttcctcctcctcct 0.586 7 283 --- --- --- --- RP11-178C3.2 0 broad.mit.edu 37 17 58050857 58050857 + RNA DEL G G - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr17:58050857delG ENST00000586209.1 + 0 158 TTTTTTTTTTGGCAGTTTTTA 0.423 7 74 --- --- --- --- SEH1L 81929 broad.mit.edu 37 18 12986927 12986929 + In_Frame_Del DEL TCC TCC - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr18:12986927_12986929delTCC ENST00000399892.2 + 9 1238_1240 c.1137_1139delTCC c.(1135-1140)ctt>ct p.LP379del SEH1L_ENST00000262124.11_3'UTR|RP11-773H22.4_ENST00000588211.1_RNA NM_001013437.1 NP_001013455.1 Q96EE3 SEH1_HUMAN SEH1-like (S. cerevisiae) 0 attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1) 11 CCCAGCTCCTtcctcctcctcct 0.522 7 346 --- --- --- --- SERPINB11 89778 broad.mit.edu 37 18 61378551 61378552 + RNA INS - - T TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr18:61378551_61378552insT ENST00000544088.1 + 0 230 SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000489748.1_RNA NM_080475.2 NP_536723.2 Q96P15 SPB11_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity breast(1)|cervix(1)|kidney(1)|lung(3) 6 Esophageal squamous(42;0.129) CAAAAGATCCCTTTTTTTTCTT 0.337 8 355 --- --- --- --- TNFSF9 8744 broad.mit.edu 37 19 6531149 6531151 + In_Frame_Del DEL GCT GCT - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr19:6531149_6531151delGCT ENST00000245817.3 + 1 140_142 c.102_104delGCT c.(100-105)ggg>gg p.GL34del NM_003811.3 NP_003802.1 P41273 TNFL9_HUMAN tumor necrosis factor (ligand) superfamily, member 9 34 apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction extracellular space|integral to membrane cytokine activity|tumor necrosis factor receptor binding central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1) 5 TGGTCGCGGGgctgctgctgctg 0.768 8 318 --- --- --- --- ZNF563 147837 broad.mit.edu 37 19 12430217 12430217 + Frame_Shift_Del DEL A A - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr19:12430217delA ENST00000293725.5 - 4 827 c.622delT c.(622-624)ggfs p.W208fs ZNF563_ENST00000595977.1_Intron NM_145276.2 NP_660319.1 Q8TA94 ZN563_HUMAN zinc finger protein 563 208 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 AAACTGGGCCAAAAAAAAGCT 0.393 13 1063 --- --- --- --- ZNF799 90576 broad.mit.edu 37 19 12502590 12502590 + Frame_Shift_Del DEL A A - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr19:12502590delA ENST00000419318.1 - 4 1275 c.526delT c.(526-528)ggfs p.W176fs ZNF799_ENST00000430385.3_Frame_Shift_Del_p.W208fs|CTD-3105H18.14_ENST00000435033.1_Intron Q96GE5 ZN799_HUMAN zinc finger protein 799 208 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2) 19 AAACTGGGCCAAAAAAACGCT 0.413 8 918 --- --- --- --- RYR1 6261 broad.mit.edu 37 19 38948159 38948160 + Frame_Shift_Del DEL TG TG - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr19:38948159_38948160delTG ENST00000355481.4 + 17 1945_1946 c.1814_1815delTG c.(1813-1815)cfs p.L605fs RYR1_ENST00000360985.3_Frame_Shift_Del_p.L605fs|RYR1_ENST00000359596.3_Frame_Shift_Del_p.L605fs NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 605 B30.2/SPRY 1. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CTATGCTCCCTGTGTGTGTGTA 0.530 8 1033 --- --- --- --- PSG7 5676 broad.mit.edu 37 19 43440068 43440069 + RNA DEL AC AC - rs72310923 TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr19:43440068_43440069delAC ENST00000446844.3 - 0 154 PSG7_ENST00000406070.2_RNA Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy extracellular region Prostate(69;0.00682) acacacacaaacacacacacac 0.495 9 172 --- --- --- --- LYPD3 27076 broad.mit.edu 37 19 43969653 43969655 + In_Frame_Del DEL AGC AGC - rs141441894 byFrequency TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr19:43969653_43969655delAGC ENST00000244333.3 - 1 157_159 c.69_71delGCT c.(67-72)ctt>ct p.LL23del NM_014400.2 NP_055215.2 O95274 LYPD3_HUMAN LY6/PLAUR domain containing 3 23 anchored to plasma membrane cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2) 11 Prostate(69;0.0153) ACCTCCGCGAAGCAGCAGCAGCA 0.675 14 709 --- --- --- --- RSPH6A 81492 broad.mit.edu 37 19 46299165 46299167 + In_Frame_Del DEL CCT CCT - rs62639328 byFrequency TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr19:46299165_46299167delCCT ENST00000221538.3 - 6 2256_2258 c.2114_2116delAGG c.(2113-2118)ggc>g p.EG705del RSPH6A_ENST00000597055.1_3'UTR|RSPH6A_ENST00000600188.1_In_Frame_Del_p.EG441del NM_030785.3 NP_110412.1 Q9H0K4 RSH6A_HUMAN radial spoke head 6 homolog A (Chlamydomonas) 705 Glu-rich. intracellular central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 32 tcctcctcgccctcctcctcctc 0.586 8 717 --- --- --- --- PTH2 113091 broad.mit.edu 37 19 49926531 49926533 + In_Frame_Del DEL CAG CAG - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr19:49926531_49926533delCAG ENST00000270631.1 - 1 165_167 c.64_66delCTG c.(64-66)del p.L22del NM_178449.3 NP_848544.1 Q96A98 TIP39_HUMAN parathyroid hormone 2 22 neuropeptide signaling pathway extracellular region p.L22V(2) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836) AGGGCACCACcagcagcagcagc 0.690 8 98 --- --- --- --- LILRB1 0 broad.mit.edu 37 19 55146148 55146150 + In_Frame_Del DEL CTC CTC - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr19:55146148_55146150delCTC ENST00000396331.1 + 11 1774_1776 c.1417_1419delCTC c.(1417-1419)del p.L479del LILRB1_ENST00000396317.1_In_Frame_Del_p.L463del|LILRB1_ENST00000434867.2_In_Frame_Del_p.L479del|LILRB1_ENST00000427581.2_In_Frame_Del_p.L529del|LILRB1_ENST00000396327.3_In_Frame_Del_p.L480del|LILRB1_ENST00000418536.2_In_Frame_Del_p.L463del|LILRB1_ENST00000396315.1_In_Frame_Del_p.L480del|LILRB1_ENST00000396321.2_In_Frame_Del_p.L479del|LILRB1_ENST00000448689.1_In_Frame_Del_p.L479del|LILRB1_ENST00000396332.4_In_Frame_Del_p.L479del|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000324602.7_In_Frame_Del_p.L480del NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 479 regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) CAtcctactgctcctcctcctcc 0.581 HNSCC(37;0.09) 17 380 --- --- --- --- KIR2DL4 0 broad.mit.edu 37 19 55324675 55324675 + Frame_Shift_Del DEL A A - rs148484482 TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr19:55324675delA ENST00000396284.2 + 6 796 c.796delA c.(796-798)aafs p.K268fs KIR2DL4_ENST00000357494.4_Intron|KIR2DL4_ENST00000463062.1_3'UTR|KIR2DL4_ENST00000345540.5_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000346587.4_Intron|KIR2DL4_ENST00000396293.1_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR2DL4_ENST00000359085.4_Frame_Shift_Del_p.K270fs killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 p.M271fs*>3(1) NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|prostate(3)|skin(1) 17 GBM - Glioblastoma multiforme(193;0.0192) CTGGTGCTCCAAAAAAAAAGT 0.532 7 259 --- --- --- --- BCL2L1 598 broad.mit.edu 37 20 30309591 30309591 + Frame_Shift_Del DEL A A - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr20:30309591delA ENST00000307677.4 - 2 841 c.431delT c.(430-432)tcfs p.F144fs BCL2L1_ENST00000420653.1_Frame_Shift_Del_p.F144fs|BCL2L1_ENST00000376062.2_Frame_Shift_Del_p.F144fs|BCL2L1_ENST00000376055.4_Intron NM_138578.1 NP_612815.1 Q07817 B2CL1_HUMAN BCL2-like 1 144 induction of apoptosis by intracellular signals|negative regulation of establishment of protein localization in plasma membrane|negative regulation of survival gene product expression|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|release of cytochrome c from mitochondria|response to cytokine stimulus integral to membrane|mitochondrial outer membrane|nuclear membrane BH3 domain binding|identical protein binding breast(1)|central_nervous_system(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_cancers(5;3.47e-06)|all_epithelial(3;1.83e-06)|Lung NSC(7;2.08e-06)|all_lung(7;3.63e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198) Epithelial(4;2.97e-06)|all cancers(5;3.21e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00052)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264) GCCGAAGGAGAAAAAGGCCAC 0.542 7 1732 --- --- --- --- SYCP2 10388 broad.mit.edu 37 20 58452518 58452519 + Frame_Shift_Ins INS - - T TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr20:58452518_58452519insT ENST00000357552.3 - 33 3296_3297 c.3071_3072insA c.(3070-3072)atafs p.I1024fs SYCP2_ENST00000371001.2_Frame_Shift_Ins_p.I1024fs Q9BX26 SYCP2_HUMAN synaptonemal complex protein 2 1024 cell division|meiotic prophase I|synaptonemal complex assembly DNA binding NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;1.19e-09) GATCTTTATAGTTTTTTTTTGT 0.327 8 340 --- --- --- --- YTHDF1 54915 broad.mit.edu 37 20 61833650 61833652 + In_Frame_Del DEL CCT CCT - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr20:61833650_61833652delCCT ENST00000370339.3 - 4 1981_1983 c.1640_1642delAGG c.(1639-1644)gtg>g p.EV547del YTHDF1_ENST00000370333.4_In_Frame_Del_p.EV497del|YTHDF1_ENST00000370334.4_Intron NM_017798.3 NP_060268.2 Q9BYJ9 YTHD1_HUMAN YTH domain family, member 1 547 NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2) 24 TTGCGCACCACCTCCTCCTCCTC 0.557 7 485 --- --- --- --- TCP10L 140290 broad.mit.edu 37 21 33949091 33949091 + Frame_Shift_Del DEL C C - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr21:33949091delC ENST00000300258.3 - 5 754 c.641delG c.(640-642)gtfs p.G214fs TCP10L_ENST00000491828.1_5'UTR NM_144659.5 NP_653260.1 t-complex 10-like breast(1)|central_nervous_system(1)|liver(1)|skin(1) 4 TCTTCAGACACCCCCCCGTCT 0.478 7 451 --- --- --- --- PTTG1IP 754 broad.mit.edu 37 21 46276194 46276196 + In_Frame_Del DEL GCA GCA - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr21:46276194_46276196delGCA ENST00000330938.3 - 4 581_583 c.361_363delTGC c.(361-363)del p.C121del PTTG1IP_ENST00000445724.2_Intron|PTTG1IP_ENST00000397886.3_In_Frame_Del_p.C100del|PTTG1IP_ENST00000494690.1_5'UTR|PTTG1IP_ENST00000397887.3_Intron NM_004339.3 NP_004330.1 P53801 PTTG_HUMAN pituitary tumor-transforming 1 interacting protein 121 Poly-Cys. protein import into nucleus cytoplasm|integral to membrane|nucleus ovary(1)|prostate(1) 2 Colorectal(79;0.0659) TCTTCCTCCTGCAGCAGCAGCAG 0.616 8 337 --- --- --- --- MED15 51586 broad.mit.edu 37 22 20918793 20918795 + In_Frame_Del DEL CAG CAG - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr22:20918793_20918795delCAG ENST00000263205.7 + 6 577_579 c.508_510delCAG c.(508-510)del p.Q174del MED15_ENST00000541476.1_In_Frame_Del_p.Q148del|MED15_ENST00000425759.2_In_Frame_Del_p.Q63del|MED15_ENST00000542773.1_5'UTR|MED15_ENST00000406969.1_In_Frame_Del_p.Q148del|MED15_ENST00000382974.2_In_Frame_Del_p.Q103del|MED15_ENST00000292733.7_In_Frame_Del_p.Q174del NM_001003891.1 NP_001003891.1 Q96RN5 MED15_HUMAN mediator complex subunit 15 174 Poly-Gln. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 25 all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209) gcagcagttccagcagcagcagc 0.616 OREG0026319 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 200 --- --- --- --- LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664078 22664079 + RNA DEL TT TT - rs114253646 by1000genomes TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr22:22664078_22664079delTT ENST00000426066.1 + 0 623 NR_027293.1 TGTGTGTGTGTTTTTATCTTGC 0.381 11 345 --- --- --- --- SF3A1 10291 broad.mit.edu 37 22 30742328 30742330 + In_Frame_Del DEL CTG CTG - rs141985009 byFrequency TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr22:30742328_30742330delCTG ENST00000215793.7 - 3 518_520 c.364_366delCAG c.(364-366)del p.Q122del SF3A1_ENST00000439242.1_Intron NM_005877.4 NP_005868.1 Q15459 SF3A1_HUMAN splicing factor 3a, subunit 1, 120kDa 122 Poly-Gln. nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1) 29 GCTGGGTGGTCTGCTGCTGCTGC 0.606 8 493 --- --- --- --- SERHL 94009 broad.mit.edu 37 22 42898666 42898666 + RNA DEL C C - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chr22:42898666delC ENST00000359906.2 + 0 409 NR_027786.1 serine hydrolase-like endometrium(1)|large_intestine(1) 2 CCATATGGTGCCCCCCCCCCA 0.592 13 113 --- --- --- --- AR 367 broad.mit.edu 37 X 66765159 66765167 + In_Frame_Del DEL GCAGCAGCA GCAGCAGCA - rs72181988 TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chrX:66765159_66765167delGCAGCAGCA ENST00000374690.3 + 1 695_703 c.171_179delGCAGCAGCA c.(169-180)ctg>ct p.LQQQ57del AR_ENST00000396044.3_In_Frame_Del_p.LQQQ57del|AR_ENST00000504326.1_In_Frame_Del_p.LQQQ57del|AR_ENST00000513847.1_3'UTR NM_000044.3 NP_000035.2 P10275 ANDR_HUMAN androgen receptor 57 Modulating.|Poly-Leu. L -> Q (in prostate cancer). cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport cytoplasm|nuclear chromatin|nucleoplasm androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding p.Q58L(2) breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3) 67 all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102) all_lung(315;1.3e-11) Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624) TGCTGCTGCTgcagcagcagcagcagcag 0.665 Androgen Insensitivity Syndrome 12 90 --- --- --- --- PASD1 139135 broad.mit.edu 37 X 150817142 150817144 + In_Frame_Del DEL GCT GCT - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chrX:150817142_150817144delGCT ENST00000370357.4 + 9 930_932 c.685_687delGCT c.(685-687)del p.A236del NM_173493.2 NP_775764.2 Q8IV76 PASD1_HUMAN PAS domain containing 1 236 Poly-Ala. nucleus signal transducer activity p.A229A(2) breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) CGTTGAACCCgctgctgctgctg 0.433 13 410 --- --- --- --- MAGEA10 4109 broad.mit.edu 37 X 151303906 151303908 + In_Frame_Del DEL AGG AGG - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chrX:151303906_151303908delAGG ENST00000370323.4 - 4 501_503 c.185_187delCCT c.(184-189)tgc>t p.SC62del RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_In_Frame_Del_p.SC62del NM_001251828.1|NM_021048.4 NP_001238757.1|NP_066386.2 P43363 MAGAA_HUMAN melanoma antigen family A, 10 62 Poly-Ser. endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) AGAGGATAGCaggaggaggagga 0.562 10 400 --- --- --- --- RBMY2EP 0 broad.mit.edu 37 Y 23563322 23563323 + RNA DEL AC AC - TCGA-HZ-7289-01A-11D-2154-08 TCGA-HZ-7289-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx acc10de4-de39-4008-a5da-02048d186ed9 0a84f7bc-d034-4c50-bb0b-59a05ab1037b g.chrY:23563322_23563323delAC ENST00000444169.1 - 0 86 NR_001574.2 ATATGAAAATacacacacacac 0.302 9 76 --- --- --- ---