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 TULP2 7288 broad.mit.edu 37 19 49387078 49387078 + Missense_Mutation SNP C C T TCGA-J8-A3YF-01A-12D-A23M-08 TCGA-J8-A3YF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ef9ead-6e4c-4ba0-ad48-e15384200468 412691cf-393d-4275-803e-b063ab91bf0d g.chr19:49387078C>T ENST00000221399.3 - 11 1352 c.1208G>A c.(1207-1209)cGg>cAg p.R403Q NM_003323.2 NP_003314.2 O00295 TULP2_HUMAN tubby like protein 2 403 visual perception cytoplasm|extracellular region NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2) 22 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234) AGTCATTTTCCGAGGCCCCAG 0.512000 27 41 0 0 1 0 0 VCL 7414 broad.mit.edu 37 10 75874123 75874123 + Missense_Mutation SNP G G T TCGA-J8-A3YF-01A-12D-A23M-08 TCGA-J8-A3YF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ef9ead-6e4c-4ba0-ad48-e15384200468 412691cf-393d-4275-803e-b063ab91bf0d g.chr10:75874123G>T ENST00000211998.4 + 20 3225 c.3131G>T c.(3130-3132)cGg>cTg p.R1044L VCL_ENST00000372755.3_Missense_Mutation_p.R976L|VCL_ENST00000417648.2_Missense_Mutation_p.R237L NM_014000.2 NP_054706.1 P18206 VINC_HUMAN vinculin 1044 C-terminal tail.|Facilitates phospholipid membrane insertion (By similarity). adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface costamere|cytosol|extracellular region|focal adhesion actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity VCL/ALK(4) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 20 Prostate(51;0.0112) ACAGATAAACGGATTAGAACC 0.552000 16 35 6.31663e-08 6.63246e-08 1 1 0 LYPD4 147719 broad.mit.edu 37 19 42342217 42342217 + Silent SNP G G A TCGA-J8-A3YF-01A-12D-A23M-08 TCGA-J8-A3YF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ef9ead-6e4c-4ba0-ad48-e15384200468 412691cf-393d-4275-803e-b063ab91bf0d g.chr19:42342217G>A ENST00000330743.3 - 4 1541 c.330C>T c.(328-330)tgC>tgT p.C110C LYPD4_ENST00000601246.1_Silent_p.C75C|LYPD4_ENST00000343055.4_Silent_p.C75C NM_173506.4 NP_775777.3 Q6UWN0 LYPD4_HUMAN LY6/PLAUR domain containing 4 110 anchored to membrane|plasma membrane breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2) 12 GATAAGACCGGCAGACGCGAC 0.532000 38 90 0 0 1 0 0 MAGI1 9223 broad.mit.edu 37 3 65350583 65350583 + Missense_Mutation SNP T T C TCGA-J8-A3YF-01A-12D-A23M-08 TCGA-J8-A3YF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ef9ead-6e4c-4ba0-ad48-e15384200468 412691cf-393d-4275-803e-b063ab91bf0d g.chr3:65350583T>C ENST00000330909.8 - 20 3318 c.3319A>G c.(3319-3321)Att>Gtt p.I1107V MAGI1_ENST00000402939.2_Missense_Mutation_p.I1079V|MAGI1_ENST00000497477.2_Missense_Mutation_p.I1012V|MAGI1_ENST00000483466.1_Missense_Mutation_p.I1108V NM_015520.1 NP_056335.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 1108 cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) ATGGTGGCAATCTTCTCTGCA 0.498000 65 116 0 0 1 0 0 GOLGA6B 55889 broad.mit.edu 37 15 72953665 72953665 + Missense_Mutation SNP G G A TCGA-J8-A3YF-01A-12D-A23M-08 TCGA-J8-A3YF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ef9ead-6e4c-4ba0-ad48-e15384200468 412691cf-393d-4275-803e-b063ab91bf0d g.chr15:72953665G>A ENST00000421285.3 + 8 625 c.625G>A c.(625-627)Gcg>Acg p.A209T NM_018652.4 NP_061122.4 A6NDN3 GOG6B_HUMAN golgin A6 family, member B 209 NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 16 AAAGGAGCGGGCGCTGCTGAA 0.592000 5 55 0 0 1 0 0 CAP2 10486 broad.mit.edu 37 6 17539622 17539622 + Missense_Mutation SNP A A T TCGA-J8-A3YF-01A-12D-A23M-08 TCGA-J8-A3YF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ef9ead-6e4c-4ba0-ad48-e15384200468 412691cf-393d-4275-803e-b063ab91bf0d g.chr6:17539622A>T ENST00000229922.2 + 8 1291 c.759A>T c.(757-759)aaA>aaT p.K253N CAP2_ENST00000489374.1_Missense_Mutation_p.K141N|CAP2_ENST00000493172.1_Intron|CAP2_ENST00000378990.2_Missense_Mutation_p.K227N|CAP2_ENST00000465994.1_Missense_Mutation_p.K189N NM_006366.2 NP_006357.1 P40123 CAP2_HUMAN CAP, adenylate cyclase-associated protein, 2 (yeast) 253 activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction plasma membrane actin binding breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1) 27 Breast(50;0.0333)|Ovarian(93;0.0386) all_hematologic(90;0.0466) all cancers(50;0.194)|Epithelial(50;0.227) AAGGCAAAAAAGAGGAATCTT 0.517000 30 72 0 0 1 0 0 WNT7B 7477 broad.mit.edu 37 22 46345891 46345891 + Silent SNP G G A TCGA-J8-A3YF-01A-12D-A23M-08 TCGA-J8-A3YF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ef9ead-6e4c-4ba0-ad48-e15384200468 412691cf-393d-4275-803e-b063ab91bf0d g.chr22:46345891G>A ENST00000339464.4 - 2 581 c.207C>T c.(205-207)ggC>ggT p.G69G WNT7B_ENST00000409496.3_Silent_p.G73G|WNT7B_ENST00000410058.1_Silent_p.G69G|WNT7B_ENST00000410089.1_Silent_p.G53G NM_058238.2 NP_478679.1 P56706 WNT7B_HUMAN wingless-type MMTV integration site family, member 7B 69 activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|frizzled binding|signal transducer activity endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 19 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247) ACTCGTTGATGCCCATCTGCG 0.622000 14 48 0 0 1 0 0 DPYSL5 56896 broad.mit.edu 37 2 27167581 27167581 + Missense_Mutation SNP G G A TCGA-J8-A3YF-01A-12D-A23M-08 TCGA-J8-A3YF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ef9ead-6e4c-4ba0-ad48-e15384200468 412691cf-393d-4275-803e-b063ab91bf0d g.chr2:27167581G>A ENST00000288699.6 + 12 1656 c.1498G>A c.(1498-1500)Gtg>Atg p.V500M DPYSL5_ENST00000401478.1_Missense_Mutation_p.V500M NM_001253724.1|NM_020134.3 NP_001240653.1|NP_064519.2 Q9BPU6 DPYL5_HUMAN dihydropyrimidinase-like 5 500 axon guidance|pyrimidine base catabolic process|signal transduction cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides p.V500M(1) breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CGCTGTTGTCGTGCACCCTGG 0.567000 42 87 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628299 29628299 + Missense_Mutation SNP A A G TCGA-J8-A3YF-01A-12D-A23M-08 TCGA-J8-A3YF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ef9ead-6e4c-4ba0-ad48-e15384200468 412691cf-393d-4275-803e-b063ab91bf0d g.chr20:29628299A>G ENST00000278882.3 + 6 681 c.301A>G c.(301-303)Agt>Ggt p.S101G FRG1B_ENST00000439954.2_Missense_Mutation_p.S106G|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101G endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AGAAGCAAAAAGTAAAACAGC 0.363000 4 119 0 0 1 0 0 METTL14 57721 broad.mit.edu 37 4 119631352 119631352 + Silent SNP T T A TCGA-J8-A3YF-01A-12D-A23M-08 TCGA-J8-A3YF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ef9ead-6e4c-4ba0-ad48-e15384200468 412691cf-393d-4275-803e-b063ab91bf0d g.chr4:119631352T>A ENST00000388822.4 + 11 1433 c.1266T>A c.(1264-1266)tcT>tcA p.S422S METTL14_ENST00000506780.1_Silent_p.S384S Q9HCE5 MTL14_HUMAN methyltransferase like 14 422 Gly-rich. nucleus mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1) 16 GTGGAACTTCTGCTGGCCGTG 0.532000 16 40 0 0 1 0 0 AC006293.3 0 broad.mit.edu 37 19 55221570 55221570 + RNA SNP A A C TCGA-J8-A3YF-01A-12D-A23M-08 TCGA-J8-A3YF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ef9ead-6e4c-4ba0-ad48-e15384200468 412691cf-393d-4275-803e-b063ab91bf0d g.chr19:55221570A>C ENST00000413439.1 + 0 1350 TACAGATGCTACGGTGCACAC 0.677000 6 67 0 0 1 0 0 OR51I1 390063 broad.mit.edu 37 11 5462660 5462660 + Missense_Mutation SNP C C A TCGA-J8-A3YF-01A-12D-A23M-08 TCGA-J8-A3YF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ef9ead-6e4c-4ba0-ad48-e15384200468 412691cf-393d-4275-803e-b063ab91bf0d g.chr11:5462660C>A ENST00000380211.1 - 1 84 c.85G>T c.(85-87)Gtt>Ttt p.V29F HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA NM_001005288.2 NP_001005288.1 Q9H343 O51I1_HUMAN olfactory receptor, family 51, subfamily I, member 1 29 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 30 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATCAGGGCAACCCAGGTGAGG 0.522000 27 87 7.41945e-09 7.99018e-09 1 1 0 ZNF74 7625 broad.mit.edu 37 22 20760482 20760482 + Missense_Mutation SNP C C T TCGA-J8-A3YF-01A-12D-A23M-08 TCGA-J8-A3YF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ef9ead-6e4c-4ba0-ad48-e15384200468 412691cf-393d-4275-803e-b063ab91bf0d g.chr22:20760482C>T ENST00000400451.2 + 5 1673 c.1159C>T c.(1159-1161)Ccc>Tcc p.P387S ZNF74_ENST00000405993.1_Missense_Mutation_p.P355S|ZNF74_ENST00000356671.5_Missense_Mutation_p.P387S|ZNF74_ENST00000357502.5_3'UTR|ZNF74_ENST00000403682.3_3'UTR NM_003426.3 NP_003417.2 Q16587 ZNF74_HUMAN zinc finger protein 74 387 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent actin cytoskeleton|nucleus DNA binding|RNA binding|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 19 Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219) Lung SC(17;0.0262)|all_lung(157;0.248) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) GGGCGAGAAGCCCTACCAGTG 0.647000 30 65 0 0 1 0 0 ZNF292 23036 broad.mit.edu 37 6 87925716 87925716 + Silent SNP C C G TCGA-J8-A3YF-01A-12D-A23M-08 TCGA-J8-A3YF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ef9ead-6e4c-4ba0-ad48-e15384200468 412691cf-393d-4275-803e-b063ab91bf0d g.chr6:87925716C>G ENST00000369577.3 + 2 307 c.264C>G c.(262-264)gcC>gcG p.A88A ZNF292_ENST00000369578.2_3'UTR|ZNF292_ENST00000339907.4_Silent_p.A88A NM_015021.1 NP_055836.1 O60281 ZN292_HUMAN zinc finger protein 292 88 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 89 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) ATGTTAAAGCCCGACCTTATC 0.378000 18 31 0 0 1 0 0 MAP1A 4130 broad.mit.edu 37 15 43820887 43820887 + Silent SNP T T C TCGA-J8-A3YF-01A-12D-A23M-08 TCGA-J8-A3YF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ef9ead-6e4c-4ba0-ad48-e15384200468 412691cf-393d-4275-803e-b063ab91bf0d g.chr15:43820887T>C ENST00000382031.1 + 5 7961 c.7930T>C c.(7930-7932)Ttg>Ctg p.L2644L MAP1A_ENST00000300231.5_Silent_p.L2406L|MAP1A_ENST00000399453.1_Silent_p.L2406L P78559 MAP1A_HUMAN microtubule-associated protein 1A 2406 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) GCCTGACACATTGCTCTCCCC 0.672000 14 30 0 0 1 0 0 PRSS57 400668 broad.mit.edu 37 19 686939 686939 + Missense_Mutation SNP G G A TCGA-J8-A3YF-01A-12D-A23M-08 TCGA-J8-A3YF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ef9ead-6e4c-4ba0-ad48-e15384200468 412691cf-393d-4275-803e-b063ab91bf0d g.chr19:686939G>A ENST00000329267.7 - 4 660 c.631C>T c.(631-633)Cgg>Tgg p.R211W NM_214710.3 NP_999875.1 Q6UWY2 PRS57_HUMAN protease, serine, 57 211 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity central_nervous_system(1)|lung(5) 6 CAGAAGCCCCGTCTGTGGCTG 0.637000 7 62 0 0 1 0 0 GNPAT 8443 broad.mit.edu 37 1 231401763 231401763 + Missense_Mutation SNP T T G TCGA-J8-A3YF-01A-12D-A23M-08 TCGA-J8-A3YF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ef9ead-6e4c-4ba0-ad48-e15384200468 412691cf-393d-4275-803e-b063ab91bf0d g.chr1:231401763T>G ENST00000366647.4 + 7 945 c.776T>G c.(775-777)cTt>cGt p.L259R GNPAT_ENST00000366646.3_Missense_Mutation_p.L198R NM_014236.3 NP_055051.1 O15228 GNPAT_HUMAN glyceronephosphate O-acyltransferase 259 ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis peroxisomal matrix|peroxisomal membrane glycerone-phosphate O-acyltransferase activity breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1) 23 Breast(184;0.0871) all_cancers(173;0.2)|Prostate(94;0.183) TTTGCAGGTCTTCTGAATATT 0.343000 15 32 0 0 1 0 0 EYA3 2140 broad.mit.edu 37 1 28384518 28384518 + Nonsense_Mutation SNP A A T TCGA-J8-A3YF-01A-12D-A23M-08 TCGA-J8-A3YF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ef9ead-6e4c-4ba0-ad48-e15384200468 412691cf-393d-4275-803e-b063ab91bf0d g.chr1:28384518A>T ENST00000373871.3 - 2 260 c.20T>A c.(19-21)tTa>tAa p.L7* EYA3_ENST00000545175.1_5'UTR|EYA3_ENST00000471498.1_5'UTR|EYA3_ENST00000373863.3_Nonsense_Mutation_p.L7*|EYA3_ENST00000373864.1_5'UTR|EYA3_ENST00000540618.1_Nonsense_Mutation_p.L7*|EYA3_ENST00000436342.2_5'UTR Q99504 EYA3_HUMAN eyes absent homolog 3 (Drosophila) 7 anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception cytoplasm metal ion binding|protein binding|protein tyrosine phosphatase activity breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 15 Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642) TTGCTCTGGTAAATCTTGCTC 0.303000 24 59 0 0 1 0 0 DDX42 11325 broad.mit.edu 37 17 61885144 61885144 + Missense_Mutation SNP A A G TCGA-J8-A3YF-01A-12D-A23M-08 TCGA-J8-A3YF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ef9ead-6e4c-4ba0-ad48-e15384200468 412691cf-393d-4275-803e-b063ab91bf0d g.chr17:61885144A>G ENST00000578681.1 + 10 1508 c.907A>G c.(907-909)Aaa>Gaa p.K303E DDX42_ENST00000359353.5_Missense_Mutation_p.K184E|DDX42_ENST00000457800.2_Missense_Mutation_p.K303E|DDX42_ENST00000389924.2_Missense_Mutation_p.K303E|DDX42_ENST00000583590.1_Missense_Mutation_p.K303E NM_007372.2 NP_031398.2 Q86XP3 DDX42_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 42 303 Helicase ATP-binding. protein localization|regulation of anti-apoptosis Cajal body|cytoplasm|nuclear speck ATP binding|ATP-dependent helicase activity|protein binding|RNA binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3) 46 AGGTAGTGGGAAAACTGCAGC 0.423000 45 84 0 0 1 0 0 ZBTB18 10472 broad.mit.edu 37 1 244217471 244217471 + Missense_Mutation SNP C C T TCGA-J8-A3YF-01A-12D-A23M-08 TCGA-J8-A3YF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ef9ead-6e4c-4ba0-ad48-e15384200468 412691cf-393d-4275-803e-b063ab91bf0d g.chr1:244217471C>T ENST00000358704.4 + 2 544 c.395C>T c.(394-396)aCg>aTg p.T132M NM_001278196.1|NM_006352.4|NM_205768.2 NP_001265125.1|NP_006343.2|NP_991331.1 zinc finger and BTB domain containing 18 AAAGCCACCACGGAGGCAGAC 0.488000 8 30 0 0 1 0 0 TEX15 56154 broad.mit.edu 37 8 30695301 30695301 + Missense_Mutation SNP A A T TCGA-J8-A3YF-01A-12D-A23M-08 TCGA-J8-A3YF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ef9ead-6e4c-4ba0-ad48-e15384200468 412691cf-393d-4275-803e-b063ab91bf0d g.chr8:30695301A>T ENST00000256246.2 - 3 7424 c.7350T>A c.(7348-7350)gaT>gaA p.D2450E NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 2450 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) AATCTTTCTTATCACTTTTTG 0.348000 40 147 0 0 1 0 0 PACRGL 133015 broad.mit.edu 37 4 20715141 20715141 + Missense_Mutation SNP T T A TCGA-J8-A3YF-01A-12D-A23M-08 TCGA-J8-A3YF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ef9ead-6e4c-4ba0-ad48-e15384200468 412691cf-393d-4275-803e-b063ab91bf0d g.chr4:20715141T>A ENST00000360916.5 + 7 979 c.588T>A c.(586-588)caT>caA p.H196Q PACRGL_ENST00000295290.8_Missense_Mutation_p.H196Q|PACRGL_ENST00000444671.2_Missense_Mutation_p.H98Q|PACRGL_ENST00000507634.1_Missense_Mutation_p.H196Q|PACRGL_ENST00000503585.1_Missense_Mutation_p.H196Q|PACRGL_ENST00000502938.1_Intron|PACRGL_ENST00000538990.1_Missense_Mutation_p.H98Q|PACRGL_ENST00000502374.1_Missense_Mutation_p.H143Q|PACRGL_ENST00000513459.1_Missense_Mutation_p.H143Q NM_145048.3 NP_659485.1 Q8N7B6 PACRL_HUMAN PARK2 co-regulated-like 196 binding endometrium(2)|lung(7)|prostate(1) 10 TAAACGACCATCTGAAGCATC 0.388000 13 63 0 0 1 0 0 KCNG1 3755 broad.mit.edu 37 20 49620640 49620640 + Missense_Mutation SNP C C T TCGA-J8-A3YF-01A-12D-A23M-08 TCGA-J8-A3YF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ef9ead-6e4c-4ba0-ad48-e15384200468 412691cf-393d-4275-803e-b063ab91bf0d g.chr20:49620640C>T ENST00000371571.4 - 3 1763 c.1478G>A c.(1477-1479)aGc>aAc p.S493N RP5-955M13.3_ENST00000506387.1_RNA|RP5-955M13.4_ENST00000424566.1_RNA NM_002237.3 NP_002228.2 Q9UIX4 KCNG1_HUMAN potassium voltage-gated channel, subfamily G, member 1 493 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 CTGGGACACGCTCAGCTGCGA 0.587000 20 36 0 0 1 0 0 FRMPD1 22844 broad.mit.edu 37 9 37745028 37745028 + Missense_Mutation SNP C C T TCGA-J8-A3YF-01A-12D-A23M-08 TCGA-J8-A3YF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ef9ead-6e4c-4ba0-ad48-e15384200468 412691cf-393d-4275-803e-b063ab91bf0d g.chr9:37745028C>T ENST00000539465.1 + 16 3592 c.2999C>T c.(2998-3000)gCc>gTc p.A1000V FRMPD1_ENST00000377765.3_Missense_Mutation_p.A1000V|RP11-613M10.9_ENST00000540557.1_Intron Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 1000 cytoskeleton|cytosol|plasma membrane NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GBM - Glioblastoma multiforme(29;0.00655) GATGGGATTGCCCCCAAAGAA 0.547000 4 135 0 0 1 0 0 USP10 9100 broad.mit.edu 37 16 84797774 84797774 + Silent SNP A A G TCGA-J8-A3YF-01A-12D-A23M-08 TCGA-J8-A3YF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ef9ead-6e4c-4ba0-ad48-e15384200468 412691cf-393d-4275-803e-b063ab91bf0d g.chr16:84797774A>G ENST00000219473.7 + 10 1850 c.1737A>G c.(1735-1737)gaA>gaG p.E579E USP10_ENST00000570191.1_Silent_p.E583E NM_001272075.1|NM_005153.2 NP_001259004.1|NP_005144.2 Q14694 UBP10_HUMAN ubiquitin specific peptidase 10 579 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 GCGAGGATGAATGGGAACAAG 0.507000 18 42 0 0 1 0 0 SPG21 51324 broad.mit.edu 37 15 65257674 65257674 + Missense_Mutation SNP T T C TCGA-J8-A3YF-01A-12D-A23M-08 TCGA-J8-A3YF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ef9ead-6e4c-4ba0-ad48-e15384200468 412691cf-393d-4275-803e-b063ab91bf0d g.chr15:65257674T>C ENST00000559199.1 - 6 1335 c.335A>G c.(334-336)aAt>aGt p.N112S SPG21_ENST00000204566.2_Missense_Mutation_p.N266S|SPG21_ENST00000433215.2_Missense_Mutation_p.N266S|SPG21_ENST00000416889.2_Missense_Mutation_p.N239S Q9NZD8 SPG21_HUMAN spastic paraplegia 21 (autosomal recessive, Mast syndrome) 266 cell death cytosol|endosome membrane|trans-Golgi network transport vesicle CD4 receptor binding central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1) 10 TACATAAAGATTGACCTCTGC 0.423000 15 50 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16946438 16946438 + RNA SNP G G A rs28392876 by1000genomes TCGA-J8-A3YF-01A-12D-A23M-08 TCGA-J8-A3YF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ef9ead-6e4c-4ba0-ad48-e15384200468 412691cf-393d-4275-803e-b063ab91bf0d g.chr1:16946438G>A ENST00000412962.1 - 0 1081 GCCTTCCGCCGGGCCAGCAGC 0.672000 4 47 0 0 1 0 0 RNMT 8731 broad.mit.edu 37 18 13734551 13734551 + Missense_Mutation SNP T T A TCGA-J8-A3YF-01A-12D-A23M-08 TCGA-J8-A3YF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ef9ead-6e4c-4ba0-ad48-e15384200468 412691cf-393d-4275-803e-b063ab91bf0d g.chr18:13734551T>A ENST00000383314.2 + 4 746 c.506T>A c.(505-507)aTt>aAt p.I169N RNMT_ENST00000589866.1_Missense_Mutation_p.I169N|RNMT_ENST00000592764.1_Missense_Mutation_p.I169N|RNMT_ENST00000543302.2_Missense_Mutation_p.I169N|RNMT_ENST00000535051.1_5'UTR|RNMT_ENST00000262173.3_Missense_Mutation_p.I169N O43148 MCES_HUMAN RNA (guanine-7-) methyltransferase 169 mRNA capping|transcription from RNA polymerase II promoter|viral reproduction nucleoplasm mRNA (guanine-N7-)-methyltransferase activity|RNA binding central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2) 18 CAAAGTCGTATTTTTTACCTA 0.353000 20 28 0 0 1 0 0 KIAA1211 57482 broad.mit.edu 37 4 57182015 57182015 + Missense_Mutation SNP G G A TCGA-J8-A3YF-01A-12D-A23M-08 TCGA-J8-A3YF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ef9ead-6e4c-4ba0-ad48-e15384200468 412691cf-393d-4275-803e-b063ab91bf0d g.chr4:57182015G>A ENST00000504228.1 + 6 2452 c.2347G>A c.(2347-2349)Gca>Aca p.A783T KIAA1211_ENST00000264229.6_Missense_Mutation_p.A783T|KIAA1211_ENST00000541073.1_Missense_Mutation_p.A776T Q6ZU35 K1211_HUMAN KIAA1211 783 endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1) 65 Glioma(25;0.08)|all_neural(26;0.101) CCGGGAGCCCGCAGACACCAC 0.617000 35 69 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-J8-A3YF-01A-12D-A23M-08 TCGA-J8-A3YF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ef9ead-6e4c-4ba0-ad48-e15384200468 412691cf-393d-4275-803e-b063ab91bf0d g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 19 52 0 0 1 0 0 AC006293.3 0 broad.mit.edu 37 19 55221559 55221559 + RNA SNP G G T TCGA-J8-A3YF-01A-12D-A23M-08 TCGA-J8-A3YF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ef9ead-6e4c-4ba0-ad48-e15384200468 412691cf-393d-4275-803e-b063ab91bf0d g.chr19:55221559G>T ENST00000413439.1 + 0 1339 ACGGGGGCCAGTACAGATGCT 0.672000 4 64 0.0215528 0.0220784 1 1 0 UBXN2B 137886 broad.mit.edu 37 8 59347057 59347057 + Missense_Mutation SNP A A G TCGA-J8-A3YF-01A-12D-A23M-08 TCGA-J8-A3YF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ef9ead-6e4c-4ba0-ad48-e15384200468 412691cf-393d-4275-803e-b063ab91bf0d g.chr8:59347057A>G ENST00000399598.2 + 5 649 c.527A>G c.(526-528)aAg>aGg p.K176R UBXN2B_ENST00000522978.1_3'UTR NM_001077619.1 NP_001071087.1 Q14CS0 UBX2B_HUMAN UBX domain protein 2B 176 SEP. cytosol|endoplasmic reticulum|Golgi apparatus|nucleus endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 13 GAGTCTGTTAAGAGAGGGTAA 0.348000 11 23 0 0 1 0 0 KNCN 148930 broad.mit.edu 37 1 47013416 47013416 + Frame_Shift_Del DEL C C - TCGA-J8-A3YF-01A-12D-A23M-08 TCGA-J8-A3YF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ef9ead-6e4c-4ba0-ad48-e15384200468 412691cf-393d-4275-803e-b063ab91bf0d g.chr1:47013416delC ENST00000481882.2 - 4 672 c.361delG c.(361-363)ctfs p.A121fs KNCN_ENST00000396314.3_Frame_Shift_Del_p.A98fs|MKNK1-AS1_ENST00000602433.1_RNA|KNCN_ENST00000524908.1_5'UTR A6PVL3 KNCN_HUMAN kinocilin 121 integral to membrane central_nervous_system(1)|endometrium(1)|lung(1)|ovary(1) 4 Acute lymphoblastic leukemia(166;0.155) CATTCCTCAGCCCCCCGGGTC 0.672 2 4 --- --- --- --- RP11-3B12.1 0 broad.mit.edu 37 7 124674953 124674953 + RNA DEL C C - TCGA-J8-A3YF-01A-12D-A23M-08 TCGA-J8-A3YF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ef9ead-6e4c-4ba0-ad48-e15384200468 412691cf-393d-4275-803e-b063ab91bf0d g.chr7:124674953delC ENST00000453342.1 + 0 614 AGGACACACTCCTTGTGGCAC 0.537 2 4 --- --- --- --- UTP20 27340 broad.mit.edu 37 12 101680156 101680157 + Frame_Shift_Ins INS - - T TCGA-J8-A3YF-01A-12D-A23M-08 TCGA-J8-A3YF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ef9ead-6e4c-4ba0-ad48-e15384200468 412691cf-393d-4275-803e-b063ab91bf0d g.chr12:101680156_101680157insT ENST00000261637.4 + 5 558_559 c.384_385insT c.(382-387)gattttfs p.DF128fs NM_014503.2 NP_055318.2 O75691 UTP20_HUMAN UTP20, small subunit (SSU) processome component, homolog (yeast) 128 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 ACTTTCCAGAGTTTTTTTTGAC 0.396 10 258 --- --- --- --- RP11-478C19.2 0 broad.mit.edu 37 12 110868215 110868216 + RNA DEL GT GT - rs113592903 TCGA-J8-A3YF-01A-12D-A23M-08 TCGA-J8-A3YF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 26ef9ead-6e4c-4ba0-ad48-e15384200468 412691cf-393d-4275-803e-b063ab91bf0d g.chr12:110868215_110868216delGT ENST00000550231.1 - 0 97 CAgtgtgtgcgtgtgtgtgtgt 0.490 2 4 --- --- --- ---