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 HOXB13 10481 broad.mit.edu 37 17 46805666 46805666 + Missense_Mutation SNP A A G TCGA-J4-A67Q-01A-21D-A30E-08 TCGA-J4-A67Q-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 282f9df5-390b-4f67-a898-44746b337dc6 59ffc3d4-1659-40c8-89fe-d48475608509 g.chr17:46805666A>G ENST00000290295.7 - 1 874 c.290T>C c.(289-291)cTg>cCg p.L97P NM_006361.5 NP_006352.2 Q92826 HXB13_HUMAN homeobox B13 97 angiogenesis|epidermis development|response to wounding sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(2)|lung(6)|prostate(1) 11 ACAGGGTTTCAGCGAGCTCCG 0.672000 20 127 0 0 1 0 0 ROR2 4920 broad.mit.edu 37 9 94486363 94486363 + Missense_Mutation SNP T T C TCGA-J4-A67Q-01A-21D-A30E-08 TCGA-J4-A67Q-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 282f9df5-390b-4f67-a898-44746b337dc6 59ffc3d4-1659-40c8-89fe-d48475608509 g.chr9:94486363T>C ENST00000375708.3 - 9 2611 c.2413A>G c.(2413-2415)Aag>Gag p.K805E ROR2_ENST00000375715.1_Intron|ROR2_ENST00000550066.1_5'UTR NM_004560.3 NP_004551.2 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 805 Pro-rich. negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 ATCTGGCCCTTCATGGGGATG 0.662000 8 77 0 0 1 0 0 RYBP 23429 broad.mit.edu 37 3 72427735 72427735 + Missense_Mutation SNP A A C TCGA-J4-A67Q-01A-21D-A30E-08 TCGA-J4-A67Q-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 282f9df5-390b-4f67-a898-44746b337dc6 59ffc3d4-1659-40c8-89fe-d48475608509 g.chr3:72427735A>C ENST00000477973.1 - 4 752 c.753T>G c.(751-753)tgT>tgG p.C251W NM_012234.5 NP_036366.3 Q8N488 RYBP_HUMAN RING1 and YY1 binding protein 0 apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleoplasm DNA binding|protein binding|transcription corepressor activity|zinc ion binding prostate(1)|upper_aerodigestive_tract(1) 2 Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204) BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232) GACGTTGCCCACAGTTACTGC 0.512000 8 83 0 0 1 0 0 MYOM2 9172 broad.mit.edu 37 8 2021549 2021549 + Silent SNP C C T TCGA-J4-A67Q-01A-21D-A30E-08 TCGA-J4-A67Q-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 282f9df5-390b-4f67-a898-44746b337dc6 59ffc3d4-1659-40c8-89fe-d48475608509 g.chr8:2021549C>T ENST00000262113.4 + 10 1230 c.1089C>T c.(1087-1089)gtC>gtT p.V363V MYOM2_ENST00000523438.1_Intron NM_003970.2 NP_003961.2 P54296 MYOM2_HUMAN myomesin 2 363 Ig-like C2-type 2. V -> I (in dbSNP:rs34316994). muscle contraction myosin filament structural constituent of muscle autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) GGGGCGGCGTCAGCGACCACA 0.652000 12 39 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628245 29628245 + Missense_Mutation SNP G G A TCGA-J4-A67Q-01A-21D-A30E-08 TCGA-J4-A67Q-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 282f9df5-390b-4f67-a898-44746b337dc6 59ffc3d4-1659-40c8-89fe-d48475608509 g.chr20:29628245G>A ENST00000278882.3 + 6 627 c.247G>A c.(247-249)Gcc>Acc p.A83T FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T p.A83T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGCTTTGTTGGCCTCAAATAG 0.353000 5 184 0 0 1 0 0 SF3B5 83443 broad.mit.edu 37 6 144416413 144416413 + Missense_Mutation SNP C C G TCGA-J4-A67Q-01A-21D-A30E-08 TCGA-J4-A67Q-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 282f9df5-390b-4f67-a898-44746b337dc6 59ffc3d4-1659-40c8-89fe-d48475608509 g.chr6:144416413C>G ENST00000367569.2 - 1 341 c.222G>C c.(220-222)caG>caC p.Q74H NM_031287.2 NP_112577.1 Q9BWJ5 SF3B5_HUMAN splicing factor 3b, subunit 5, 10kDa 74 nuclear mRNA splicing, via spliceosome nucleoplasm|U12-type spliceosomal complex lung(2)|prostate(1) 3 OV - Ovarian serous cystadenocarcinoma(155;1.68e-06)|GBM - Glioblastoma multiforme(68;0.0638) GTCCACAAGGCTGAAGCATCT 0.572000 28 125 0 0 1 0 0 DEF8 54849 broad.mit.edu 37 16 90028248 90028248 + Missense_Mutation SNP C C G TCGA-J4-A67Q-01A-21D-A30E-08 TCGA-J4-A67Q-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 282f9df5-390b-4f67-a898-44746b337dc6 59ffc3d4-1659-40c8-89fe-d48475608509 g.chr16:90028248C>G ENST00000563594.1 + 8 1780 c.783C>G c.(781-783)caC>caG p.H261Q DEF8_ENST00000567874.1_Missense_Mutation_p.H201Q|DEF8_ENST00000563795.1_Missense_Mutation_p.H261Q|DEF8_ENST00000569453.1_Missense_Mutation_p.H261Q|DEF8_ENST00000268676.7_Missense_Mutation_p.H322Q|DEF8_ENST00000570182.1_Missense_Mutation_p.H251Q|DEF8_ENST00000563848.1_3'UTR NM_001242818.1|NM_001242819.1 NP_001229747.1|NP_001229748.1 Q6ZN54 DEFI8_HUMAN differentially expressed in FDCP 8 homolog (mouse) 322 intracellular signal transduction zinc ion binding central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1) 12 all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0274) GCGTTGTACACAACTGGGACT 0.637000 3 56 0 0 1 0 0 FAM96B 51647 broad.mit.edu 37 16 66967968 66967968 + Splice_Site SNP A A T TCGA-J4-A67Q-01A-21D-A30E-08 TCGA-J4-A67Q-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 282f9df5-390b-4f67-a898-44746b337dc6 59ffc3d4-1659-40c8-89fe-d48475608509 g.chr16:66967968A>T ENST00000422424.2 - 2 179 c.142_splice c.e2-1 p.D48_splice NM_016062.3 NP_057146.1 Q9Y3D0 MIP18_HUMAN family with sequence similarity 96, member B 48 chromosome segregation cytoplasm|MMXD complex|nucleus protein binding kidney(1) 1 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198) AGCGAATCAGATGTGGGAAGT 0.582000 6 22 0 0 1 0 0 COL16A1 1307 broad.mit.edu 37 1 32120919 32120919 + Missense_Mutation SNP G G A TCGA-J4-A67Q-01A-21D-A30E-08 TCGA-J4-A67Q-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 282f9df5-390b-4f67-a898-44746b337dc6 59ffc3d4-1659-40c8-89fe-d48475608509 g.chr1:32120919G>A ENST00000373672.3 - 67 4802 c.4286C>T c.(4285-4287)tCc>tTc p.S1429F RP11-73M7.6_ENST00000593188.1_RNA|RP11-73M7.6_ENST00000591929.1_RNA|RP11-73M7.6_ENST00000587445.1_RNA|COL16A1_ENST00000461217.1_5'UTR|RP11-73M7.6_ENST00000585660.1_RNA|RP11-73M7.6_ENST00000585413.1_RNA|COL16A1_ENST00000271069.6_Missense_Mutation_p.S1429F|RP11-73M7.6_ENST00000591592.1_RNA|RP11-73M7.6_ENST00000589462.1_RNA NM_001856.3 NP_001847.3 Q07092 COGA1_HUMAN collagen, type XVI, alpha 1 1429 Triple-helical region 2 (COL2) with 2 imperfections. cell adhesion|female pregnancy|integrin-mediated signaling pathway collagen type XVI integrin binding|structural molecule activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4) 48 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.059) CCTTACCATGGAGCCAGGCAC 0.652000 11 62 0 0 1 0 0 OR4K2 390431 broad.mit.edu 37 14 20344654 20344654 + Silent SNP C C T TCGA-J4-A67Q-01A-21D-A30E-08 TCGA-J4-A67Q-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 282f9df5-390b-4f67-a898-44746b337dc6 59ffc3d4-1659-40c8-89fe-d48475608509 g.chr14:20344654C>T ENST00000298642.2 + 1 264 c.228C>T c.(226-228)ttC>ttT p.F76F NM_001005501.1 NP_001005501.1 Q8NGD2 OR4K2_HUMAN olfactory receptor, family 4, subfamily K, member 2 76 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TTGCTTCTTTCGCCACCCCAA 0.418000 52 326 0 0 1 0 0 ATM 472 broad.mit.edu 37 11 108143527 108143527 + Missense_Mutation SNP C C G TCGA-J4-A67Q-01A-21D-A30E-08 TCGA-J4-A67Q-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 282f9df5-390b-4f67-a898-44746b337dc6 59ffc3d4-1659-40c8-89fe-d48475608509 g.chr11:108143527C>G ENST00000278616.4 + 22 3617 c.3232C>G c.(3232-3234)Ctt>Gtt p.L1078V ATM_ENST00000452508.2_Missense_Mutation_p.L1078V NM_000051.3 NP_000042.3 Q13315 ATM_HUMAN ataxia telangiectasia mutated 1078 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) TACACAATTTCTTGCTGACAA 0.388000 """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) 6 56 0 0 1 0 0 ADAMTS14 140766 broad.mit.edu 37 10 72498708 72498708 + Silent SNP C C T TCGA-J4-A67Q-01A-21D-A30E-08 TCGA-J4-A67Q-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 282f9df5-390b-4f67-a898-44746b337dc6 59ffc3d4-1659-40c8-89fe-d48475608509 g.chr10:72498708C>T ENST00000373208.1 + 11 1719 c.1719C>T c.(1717-1719)ggC>ggT p.G573G ADAMTS14_ENST00000373207.1_Silent_p.G570G NM_139155.2 NP_631894.2 Q8WXS8 ATS14_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 14 570 TSP type-1 1. collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 CATGTGGGGGCGGGGTGCGAT 0.652000 5 48 0 0 1 0 0 ALPK2 115701 broad.mit.edu 37 18 56246844 56246844 + Silent SNP C C T rs78302914 byFrequency TCGA-J4-A67Q-01A-21D-A30E-08 TCGA-J4-A67Q-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 282f9df5-390b-4f67-a898-44746b337dc6 59ffc3d4-1659-40c8-89fe-d48475608509 g.chr18:56246844C>T ENST00000361673.3 - 4 1377 c.1164G>A c.(1162-1164)tcG>tcA p.S388S NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 388 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 CAGCGTCACCCGACACCCGAG 0.547000 OREG0025011 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 69 0 0 1 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102452709 102452709 + Missense_Mutation SNP G G A TCGA-J4-A67Q-01A-21D-A30E-08 TCGA-J4-A67Q-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 282f9df5-390b-4f67-a898-44746b337dc6 59ffc3d4-1659-40c8-89fe-d48475608509 g.chr14:102452709G>A ENST00000360184.4 + 8 2311 c.2147G>A c.(2146-2148)cGc>cAc p.R716H NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 716 Interaction with DYNC1LI2 (By similarity).|Stem (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 GTCTCGGGGCGCATTTTCACC 0.502000 3 41 0 0 1 0 0 TLE4 7091 broad.mit.edu 37 9 82339965 82339965 + Missense_Mutation SNP C C T TCGA-J4-A67Q-01A-21D-A30E-08 TCGA-J4-A67Q-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 282f9df5-390b-4f67-a898-44746b337dc6 59ffc3d4-1659-40c8-89fe-d48475608509 g.chr9:82339965C>T ENST00000376520.4 + 21 3152 c.2324C>T c.(2323-2325)tCa>tTa p.S775L TLE4_ENST00000376534.4_Missense_Mutation_p.S380L|TLE4_ENST00000376537.4_Missense_Mutation_p.S775L|TLE4_ENST00000376544.3_Missense_Mutation_p.S674L|TLE4_ENST00000376552.2_Missense_Mutation_p.S743L|TLE4_ENST00000265284.6_Missense_Mutation_p.S718L O60756 BCE1_HUMAN transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) 0 breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 39 AAAGAATCCTCATCGGTGCTT 0.368000 7 63 0 0 1 0 0 KIAA1161 57462 broad.mit.edu 37 9 34372001 34372001 + Missense_Mutation SNP C C G TCGA-J4-A67Q-01A-21D-A30E-08 TCGA-J4-A67Q-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 282f9df5-390b-4f67-a898-44746b337dc6 59ffc3d4-1659-40c8-89fe-d48475608509 g.chr9:34372001C>G ENST00000297625.7 - 2 1064 c.839G>C c.(838-840)cGa>cCa p.R280P NM_020702.3 NP_065753.2 Q6NSJ0 K1161_HUMAN KIAA1161 314 carbohydrate metabolic process integral to membrane hydrolase activity, hydrolyzing O-glycosyl compounds breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1) 12 LUSC - Lung squamous cell carcinoma(29;0.0107) GBM - Glioblastoma multiforme(74;0.126) AATGGGGTCTCGGAAGGCCTC 0.612000 10 61 0 0 1 0 0 TRMT13 54482 broad.mit.edu 37 1 100609646 100609646 + Missense_Mutation SNP A A C TCGA-J4-A67Q-01A-21D-A30E-08 TCGA-J4-A67Q-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 282f9df5-390b-4f67-a898-44746b337dc6 59ffc3d4-1659-40c8-89fe-d48475608509 g.chr1:100609646A>C ENST00000370141.2 + 9 770 c.764A>C c.(763-765)gAa>gCa p.E255A TRMT13_ENST00000493651.1_3'UTR NM_019083.2 NP_061956.2 tRNA methyltransferase 13 homolog (S. cerevisiae) GTGCTAAGAGAAGAAAAACTA 0.338000 3 36 0 0 1 0 0 KIF11 3832 broad.mit.edu 37 10 94413536 94413536 + Missense_Mutation SNP G G C TCGA-J4-A67Q-01A-21D-A30E-08 TCGA-J4-A67Q-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 282f9df5-390b-4f67-a898-44746b337dc6 59ffc3d4-1659-40c8-89fe-d48475608509 g.chr10:94413536G>C ENST00000260731.3 + 22 3244 c.3154G>C c.(3154-3156)Gcc>Ccc p.A1052P NM_004523.3 NP_004514.2 P52732 KIF11_HUMAN kinesin family member 11 1052 blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole ATP binding|microtubule motor activity|protein kinase binding breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 ACCTCTGCGAGCCCAGATCAA 0.388000 6 48 0 0 1 0 0 KRTAP13-3 337960 broad.mit.edu 37 21 31798058 31798058 + Missense_Mutation SNP T T C TCGA-J4-A67Q-01A-21D-A30E-08 TCGA-J4-A67Q-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 282f9df5-390b-4f67-a898-44746b337dc6 59ffc3d4-1659-40c8-89fe-d48475608509 g.chr21:31798058T>C ENST00000390690.2 - 1 228 c.173A>G c.(172-174)gAg>gGg p.E58G NM_181622.1 NP_853653.1 Q3SY46 KR133_HUMAN keratin associated protein 13-3 58 5 X 10 AA approximate repeats. intermediate filament endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 14 CCAGCAGGTCTCCTGACAGCC 0.582000 4 100 0 0 1 0 0 WASH3P 0 broad.mit.edu 37 15 102515335 102515335 + RNA SNP C C G TCGA-J4-A67Q-01A-21D-A30E-08 TCGA-J4-A67Q-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 282f9df5-390b-4f67-a898-44746b337dc6 59ffc3d4-1659-40c8-89fe-d48475608509 g.chr15:102515335C>G ENST00000557932.1 + 0 1181 p.L386V(3) central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 GGAGCGAAAGCTGGAGAAGAA 0.652000 3 29 0 0 1 0 0 RAB11FIP3 9727 broad.mit.edu 37 16 570797 570797 + Silent SNP G G A TCGA-J4-A67Q-01A-21D-A30E-08 TCGA-J4-A67Q-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 282f9df5-390b-4f67-a898-44746b337dc6 59ffc3d4-1659-40c8-89fe-d48475608509 g.chr16:570797G>A ENST00000262305.4 + 14 2617 c.2229G>A c.(2227-2229)gtG>gtA p.V743V RAB11FIP3_ENST00000457159.1_Silent_p.V788V|RAB11FIP3_ENST00000450428.1_Silent_p.V447V NM_014700.3 NP_055515.1 O75154 RFIP3_HUMAN RAB11 family interacting protein 3 (class II) 743 FIP-RBD. cell cycle|cytokinesis|endocytic recycling|protein transport centrosome|cleavage furrow|midbody|recycling endosome membrane ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1) 12 Hepatocellular(16;0.0218) GGATCATCGTGGCCATCATGG 0.577000 21 61 0 0 1 0 0 SLC24A5 283652 broad.mit.edu 37 15 48414122 48414122 + Missense_Mutation SNP C C T TCGA-J4-A67Q-01A-21D-A30E-08 TCGA-J4-A67Q-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 282f9df5-390b-4f67-a898-44746b337dc6 59ffc3d4-1659-40c8-89fe-d48475608509 g.chr15:48414122C>T ENST00000482911.2 + 2 231 c.190C>T c.(190-192)Cgc>Tgc p.R64C SLC24A5_ENST00000341459.3_Missense_Mutation_p.R64C|SLC24A5_ENST00000449382.2_Intron Q71RS6 NCKX5_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 5 64 response to stimulus integral to membrane|melanosome|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity p.R64S(1) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1) 27 all_lung(180;0.00217) all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07) GAGACAGGAGCGCAGAGATGG 0.413000 4 107 0 0 1 0 0 SIM2 6493 broad.mit.edu 37 21 38114059 38114059 + Silent SNP C C T TCGA-J4-A67Q-01A-21D-A30E-08 TCGA-J4-A67Q-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 282f9df5-390b-4f67-a898-44746b337dc6 59ffc3d4-1659-40c8-89fe-d48475608509 g.chr21:38114059C>T ENST00000290399.6 + 8 1505 c.892C>T c.(892-894)Ctg>Ttg p.L298L SIM2_ENST00000430056.3_Silent_p.L298L NM_005069.3 NP_005060.1 Q14190 SIM2_HUMAN single-minded family bHLH transcription factor 2 298 PAC. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2) 16 CTACCGGCTGCTGTCCAAGCG 0.627000 3 25 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628243 29628243 + Missense_Mutation SNP T T C TCGA-J4-A67Q-01A-21D-A30E-08 TCGA-J4-A67Q-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 282f9df5-390b-4f67-a898-44746b337dc6 59ffc3d4-1659-40c8-89fe-d48475608509 g.chr20:29628243T>C ENST00000278882.3 + 6 625 c.245T>C c.(244-246)tTg>tCg p.L82S FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S p.L82S(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGGCTTTGTTGGCCTCAAAT 0.363000 5 185 0 0 1 0 0 HNRNPAB 3182 broad.mit.edu 37 5 177636394 177636394 + Missense_Mutation SNP C C T TCGA-J4-A67Q-01A-21D-A30E-08 TCGA-J4-A67Q-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 282f9df5-390b-4f67-a898-44746b337dc6 59ffc3d4-1659-40c8-89fe-d48475608509 g.chr5:177636394C>T ENST00000358344.3 + 6 990 c.733C>T c.(733-735)Cgt>Tgt p.R245C HNRNPAB_ENST00000506339.1_Missense_Mutation_p.R245C|HNRNPAB_ENST00000515193.1_Missense_Mutation_p.R245C|PHYKPL_ENST00000481811.1_Intron|HNRNPAB_ENST00000504898.1_Missense_Mutation_p.R245C|HNRNPAB_ENST00000514633.1_Missense_Mutation_p.R245C|PHYKPL_ENST00000308158.5_Intron|HNRNPAB_ENST00000355836.5_Missense_Mutation_p.R245C|HNRNPAB_ENST00000506259.1_Missense_Mutation_p.R245C NM_031266.2 NP_112556.2 Q99729 ROAA_HUMAN heterogeneous nuclear ribonucleoprotein A/B 245 Gly-rich. epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|ribonucleoprotein complex mRNA binding|nucleotide binding|protein binding large_intestine(4)|prostate(1)|urinary_tract(1) 6 CTCTGGGGGCCGTGGAAACCG 0.572000 9 89 0 0 1 0 0 LMO3 55885 broad.mit.edu 37 12 16704208 16704208 + Missense_Mutation SNP G G A rs145877643 TCGA-J4-A67Q-01A-21D-A30E-08 TCGA-J4-A67Q-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 282f9df5-390b-4f67-a898-44746b337dc6 59ffc3d4-1659-40c8-89fe-d48475608509 g.chr12:16704208G>A ENST00000320122.6 - 4 908 c.386C>T c.(385-387)aCg>aTg p.T129M LMO3_ENST00000354662.1_Missense_Mutation_p.T129M|LMO3_ENST00000534946.1_Missense_Mutation_p.T129M|LMO3_ENST00000535535.1_Missense_Mutation_p.T129M|LMO3_ENST00000541846.1_Missense_Mutation_p.T129M|LMO3_ENST00000447609.1_Missense_Mutation_p.T129M|LMO3_ENST00000541295.1_Missense_Mutation_p.T147M|LMO3_ENST00000540848.1_Missense_Mutation_p.T129M|LMO3_ENST00000261169.6_Missense_Mutation_p.T140M|LMO3_ENST00000540445.1_Missense_Mutation_p.T151M|LMO3_ENST00000441439.2_Missense_Mutation_p.T129M|LMO3_ENST00000537304.1_Missense_Mutation_p.T129M NM_001243611.1 NP_001230540.1 Q8TAP4 LMO3_HUMAN LIM domain only 3 (rhombotin-like 2) 129 LIM zinc-binding 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent zinc ion binding endometrium(2)|large_intestine(2)|skin(1) 5 Hepatocellular(102;0.244) CTCGTAGTCCGTCTGGCAAAG 0.348000 5 74 0 0 1 0 0 NFASC 23114 broad.mit.edu 37 1 204951036 204951036 + Silent SNP C C T TCGA-J4-A67Q-01A-21D-A30E-08 TCGA-J4-A67Q-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 282f9df5-390b-4f67-a898-44746b337dc6 59ffc3d4-1659-40c8-89fe-d48475608509 g.chr1:204951036C>T ENST00000367172.4 + 21 2686 c.2358C>T c.(2356-2358)taC>taT p.Y786Y NFASC_ENST00000367171.4_Silent_p.Y771Y|NFASC_ENST00000338515.6_Silent_p.Y786Y|NFASC_ENST00000513543.1_Silent_p.Y782Y|NFASC_ENST00000367169.4_Silent_p.Y786Y|NFASC_ENST00000339876.6_Silent_p.Y786Y|NFASC_ENST00000539706.1_Silent_p.Y782Y|NFASC_ENST00000404076.1_Silent_p.Y765Y|NFASC_ENST00000360049.4_Silent_p.Y782Y|NFASC_ENST00000401399.1_Silent_p.Y786Y|NFASC_ENST00000338586.6_Silent_p.Y786Y|NFASC_ENST00000404907.1_Silent_p.Y782Y|NFASC_ENST00000367170.4_Silent_p.Y786Y O94856 NFASC_HUMAN neurofascin 786 Fibronectin type-III 2. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) GCTCTCGCTACGTGGTGGGGC 0.602000 12 50 0 0 1 0 0 KRTAP10-1 386677 broad.mit.edu 37 21 45959752 45959752 + Silent SNP G G A TCGA-J4-A67Q-01A-21D-A30E-08 TCGA-J4-A67Q-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 282f9df5-390b-4f67-a898-44746b337dc6 59ffc3d4-1659-40c8-89fe-d48475608509 g.chr21:45959752G>A ENST00000400375.1 - 1 326 c.282C>T c.(280-282)ccC>ccT p.P94P TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron NM_198691.2 NP_941964.2 P60331 KR101_HUMAN keratin associated protein 10-1 94 24 X 5 AA repeats of C-C-X(3). keratin filament breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1) 11 cctgctggcagggggaggagg 0.662000 4 178 0 0 1 0 0 ANKRD30BP2 0 broad.mit.edu 37 21 14414844 14414844 + RNA SNP T T C rs148060711 by1000genomes TCGA-J4-A67Q-01A-21D-A30E-08 TCGA-J4-A67Q-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 282f9df5-390b-4f67-a898-44746b337dc6 59ffc3d4-1659-40c8-89fe-d48475608509 g.chr21:14414844T>C ENST00000507941.1 + 0 95 ACTGGGCCTGTGCCAATGGCC 0.433000 4 54 0 0 1 0 0 CCDC88C 440193 broad.mit.edu 37 14 91791146 91791146 + Missense_Mutation SNP G G A TCGA-J4-A67Q-01A-21D-A30E-08 TCGA-J4-A67Q-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 282f9df5-390b-4f67-a898-44746b337dc6 59ffc3d4-1659-40c8-89fe-d48475608509 g.chr14:91791146G>A ENST00000389857.6 - 12 1405 c.1319C>T c.(1318-1320)tCc>tTc p.S440F NM_001080414.3 NP_001073883.2 Q9P219 DAPLE_HUMAN coiled-coil domain containing 88C 440 microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway cytoplasm|insoluble fraction microtubule binding|PDZ domain binding|protein self-association central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1) 24 all_cancers(154;0.0468) TGCGTTCTTGGACAGCTGCTC 0.612000 6 111 0 0 1 0 0 TBL2 26608 broad.mit.edu 37 7 72988435 72988435 + Silent SNP T T A TCGA-J4-A67Q-01A-21D-A30E-08 TCGA-J4-A67Q-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 282f9df5-390b-4f67-a898-44746b337dc6 59ffc3d4-1659-40c8-89fe-d48475608509 g.chr7:72988435T>A ENST00000305632.5 - 3 520 c.279A>T c.(277-279)atA>atT p.I93I TBL2_ENST00000432538.1_Silent_p.I57I|TBL2_ENST00000459913.1_5'UTR|TBL2_ENST00000452475.1_Silent_p.I93I NM_012453.2 NP_036585.1 Q9Y4P3 TBL2_HUMAN transducin (beta)-like 2 93 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 19 Lung NSC(55;0.0659)|all_lung(88;0.152) CCATGCAAGATATGTTCCCGC 0.582000 11 56 0 0 1 0 0 C10orf12 26148 broad.mit.edu 37 10 98741523 98741523 + Missense_Mutation SNP G G A TCGA-J4-A67Q-01A-21D-A30E-08 TCGA-J4-A67Q-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 282f9df5-390b-4f67-a898-44746b337dc6 59ffc3d4-1659-40c8-89fe-d48475608509 g.chr10:98741523G>A ENST00000286067.2 + 1 483 c.376G>A c.(376-378)Gca>Aca p.A126T NM_015652.2 NP_056467.2 Q8N655 CJ012_HUMAN chromosome 10 open reading frame 12 126 NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4) 45 Colorectal(252;0.172) Epithelial(162;6.35e-09)|all cancers(201;3.21e-07) ACACAAAGCGGCAAATGGACA 0.458000 4 77 0 0 1 0 0 HELB 92797 broad.mit.edu 37 12 66703846 66703846 + Missense_Mutation SNP G G A TCGA-J4-A67Q-01A-21D-A30E-08 TCGA-J4-A67Q-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 282f9df5-390b-4f67-a898-44746b337dc6 59ffc3d4-1659-40c8-89fe-d48475608509 g.chr12:66703846G>A ENST00000247815.4 + 4 1197 c.1138G>A c.(1138-1140)Gtc>Atc p.V380I NM_033647.3 NP_387467.2 Q8NG08 HELB_HUMAN helicase (DNA) B 380 DNA replication, synthesis of RNA primer ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(2;0.000142) GBM - Glioblastoma multiforme(28;0.0265) GCATTTATGTGTCGATGTCGA 0.423000 55 165 0 0 1 0 0 CRIP3 401262 broad.mit.edu 37 6 43275384 43275384 + Silent SNP G G C TCGA-J4-A67Q-01A-21D-A30E-08 TCGA-J4-A67Q-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 282f9df5-390b-4f67-a898-44746b337dc6 59ffc3d4-1659-40c8-89fe-d48475608509 g.chr6:43275384G>C ENST00000372569.3 - 4 298 c.294C>G c.(292-294)ccC>ccG p.P98P ZNF318_ENST00000607252.1_5'UTR|CRIP3_ENST00000274990.4_Silent_p.P98P NM_206922.2 NP_996805.2 Q6Q6R5 CRIP3_HUMAN cysteine-rich protein 3 98 cytoplasm zinc ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305) TCCTTGGCCTGGGAGGGCTGA 0.632000 13 68 0 0 1 0 0 LMOD2 442721 broad.mit.edu 37 7 123301995 123301997 + In_Frame_Del DEL GAG GAG - TCGA-J4-A67Q-01A-21D-A30E-08 TCGA-J4-A67Q-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 282f9df5-390b-4f67-a898-44746b337dc6 59ffc3d4-1659-40c8-89fe-d48475608509 g.chr7:123301995_123301997delGAG ENST00000458573.2 + 2 512_514 c.355_357delGAG c.(355-357)del p.E124del LMOD2_ENST00000456238.2_Intron NM_207163.1 NP_997046.1 Q6P5Q4 LMOD2_HUMAN leiomodin 2 (cardiac) 124 Glu-rich. cytoskeleton actin binding|tropomyosin binding AGTGTATACAgaggaggaggagg 0.409 3 5 --- --- --- --- KLHL9 55958 broad.mit.edu 37 9 21334407 21334408 + Frame_Shift_Del DEL AA AA - TCGA-J4-A67Q-01A-21D-A30E-08 TCGA-J4-A67Q-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 282f9df5-390b-4f67-a898-44746b337dc6 59ffc3d4-1659-40c8-89fe-d48475608509 g.chr9:21334407_21334408delAA ENST00000359039.4 - 1 971_972 c.451_452delTT c.(451-453)gfs p.L151fs KLHL9_ENST00000537938.1_Frame_Shift_Del_p.L83fs Q9P2J3 KLHL9_HUMAN kelch-like family member 9 151 cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex|midbody endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2) 32 Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118) ACAGTTATCCAAAGAGACTCCT 0.337 9 44 --- --- --- --- KIAA1462 57608 broad.mit.edu 37 10 30316501 30316503 + In_Frame_Del DEL CTG CTG - TCGA-J4-A67Q-01A-21D-A30E-08 TCGA-J4-A67Q-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 282f9df5-390b-4f67-a898-44746b337dc6 59ffc3d4-1659-40c8-89fe-d48475608509 g.chr10:30316501_30316503delCTG ENST00000375377.1 - 3 2675_2677 c.2574_2576delCAG c.(2572-2577)agt>ag p.SS858del NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 858 Ser-rich. breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 ACTCTCCTCActgctgctgctgc 0.571 8 109 --- --- --- --- TPTE2P6 0 broad.mit.edu 37 13 25157747 25157748 + RNA INS - - T rs144668552 by1000genomes TCGA-J4-A67Q-01A-21D-A30E-08 TCGA-J4-A67Q-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 282f9df5-390b-4f67-a898-44746b337dc6 59ffc3d4-1659-40c8-89fe-d48475608509 g.chr13:25157747_25157748insT ENST00000453498.1 + 0 554 AAAATGGGAGGTTTTTTTAGGG 0.411 5 7 --- --- --- --- HERC2P2 0 broad.mit.edu 37 15 23285254 23285268 + RNA DEL TCCCTTCCCTTCCCT TCCCTTCCCTTCCCT - TCGA-J4-A67Q-01A-21D-A30E-08 TCGA-J4-A67Q-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 282f9df5-390b-4f67-a898-44746b337dc6 59ffc3d4-1659-40c8-89fe-d48475608509 g.chr15:23285254_23285268delTCCCTTCCCTTCCCT ENST00000560464.1 - 0 5097 CTTTCTTCTCtcccttcccttcccttcccttccct 0.474 7 3 --- --- --- ---