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 TTN 7273 broad.mit.edu 37 2 179455966 179455966 + Silent SNP T T A TCGA-RW-A681-01A-11D-A35D-08 TCGA-RW-A681-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cecab91-4ebe-445b-a47f-90e9e970f7fb b93b415b-3112-47cc-bd50-43798db2a87e g.chr2:179455966T>A ENST00000589042.1 - 304 60710 c.60486A>T c.(60484-60486)gtA>gtT p.V20162V TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Silent_p.V11222V|TTN_ENST00000460472.2_Silent_p.V11097V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.V18521V|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Silent_p.V17594V|TTN_ENST00000342175.6_Silent_p.V11289V|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000586452.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 18521 Fibronectin type-III 46. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GATGTACGGCTACTGTTTTGC 0.438000 55 113 0 0 1 0 0 KIF2B 84643 broad.mit.edu 37 17 51901892 51901892 + Missense_Mutation SNP A A C TCGA-RW-A681-01A-11D-A35D-08 TCGA-RW-A681-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cecab91-4ebe-445b-a47f-90e9e970f7fb b93b415b-3112-47cc-bd50-43798db2a87e g.chr17:51901892A>C ENST00000268919.4 + 1 1654 c.1498A>C c.(1498-1500)Aca>Cca p.T500P NM_032559.4 NP_115948.4 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 500 T -> A (in Ref. 1; AAK20830). blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 CAGCAAACTCACACTGGTGCT 0.502000 21 18 0 0 1 0 0 TTLL3 26140 broad.mit.edu 37 3 9859359 9859359 + Missense_Mutation SNP C C T TCGA-RW-A681-01A-11D-A35D-08 TCGA-RW-A681-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cecab91-4ebe-445b-a47f-90e9e970f7fb b93b415b-3112-47cc-bd50-43798db2a87e g.chr3:9859359C>T ENST00000547186.1 + 5 562 c.346C>T c.(346-348)Ccg>Tcg p.P116S TTLL3_ENST00000426895.4_Missense_Mutation_p.P259S|ARPC4-TTLL3_ENST00000397256.1_Missense_Mutation_p.P210S|TTLL3_ENST00000427853.3_5'UTR|TTLL3_ENST00000397241.1_5'UTR NM_001025930.3 NP_001021100.3 Q9Y4R7 TTLL3_HUMAN tubulin tyrosine ligase-like family, member 3 116 axoneme assembly|cilium assembly|protein polyglycylation cilium axoneme|cytoplasm|microtubule protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity p.P116S(1) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1) 26 Medulloblastoma(99;0.227) CCGGAATTTGCCGTGGTTTGA 0.547000 4 160 0 0 1 0 0 POMT2 29954 broad.mit.edu 37 14 77751945 77751945 + Missense_Mutation SNP G G A TCGA-RW-A681-01A-11D-A35D-08 TCGA-RW-A681-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cecab91-4ebe-445b-a47f-90e9e970f7fb b93b415b-3112-47cc-bd50-43798db2a87e g.chr14:77751945G>A ENST00000261534.4 - 13 1565 c.1363C>T c.(1363-1365)Cgg>Tgg p.R455W NM_013382.5 NP_037514.2 Q9UKY4 POMT2_HUMAN protein-O-mannosyltransferase 2 455 MIR 2. protein O-linked glycosylation endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1) 14 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0292) ACCTCAATCCGCCAGAAATCA 0.443000 5 563 0 0 1 0 0 TRBV5-7 28608 broad.mit.edu 37 7 142111680 142111680 + RNA SNP A A C TCGA-RW-A681-01A-11D-A35D-08 TCGA-RW-A681-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cecab91-4ebe-445b-a47f-90e9e970f7fb b93b415b-3112-47cc-bd50-43798db2a87e g.chr7:142111680A>C ENST00000390378.1 - 0 55 TCCAGCGTCCACTGGGCCTGT 0.552000 4 140 0 0 1 0 0 IGHV1OR16-3 28313 broad.mit.edu 37 16 32070612 32070612 + RNA SNP A A C TCGA-RW-A681-01A-11D-A35D-08 TCGA-RW-A681-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cecab91-4ebe-445b-a47f-90e9e970f7fb b93b415b-3112-47cc-bd50-43798db2a87e g.chr16:32070612A>C ENST00000566806.1 - 0 499 GGTCTCCTGCAAGGCTTCTGG 0.552000 4 69 0 0 1 0 0 SPTBN2 6712 broad.mit.edu 37 11 66457285 66457285 + Silent SNP C C A TCGA-RW-A681-01A-11D-A35D-08 TCGA-RW-A681-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cecab91-4ebe-445b-a47f-90e9e970f7fb b93b415b-3112-47cc-bd50-43798db2a87e g.chr11:66457285C>A ENST00000533211.1 - 29 6271 c.5940G>T c.(5938-5940)gcG>gcT p.A1980A SPTBN2_ENST00000529997.1_Silent_p.A1980A|SPTBN2_ENST00000309996.2_Silent_p.A1980A O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 1980 actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 74 CCTCCTCGGCCGCATAGTGGC 0.602000 53 1 4.88482e-21 5.65611e-21 1 1 0 PNPT1 87178 broad.mit.edu 37 2 55900135 55900135 + Silent SNP T T C TCGA-RW-A681-01A-11D-A35D-08 TCGA-RW-A681-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cecab91-4ebe-445b-a47f-90e9e970f7fb b93b415b-3112-47cc-bd50-43798db2a87e g.chr2:55900135T>C ENST00000447944.2 - 9 845 c.759A>G c.(757-759)caA>caG p.Q253Q NM_033109.3 NP_149100.2 Q8TCS8 PNPT1_HUMAN polyribonucleotide nucleotidyltransferase 1 253 mRNA catabolic process|RNA processing plasma membrane 3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1) 27 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) GAATTATTTGTTGGGTATATT 0.388000 39 94 0 0 1 0 0 FAM193B 54540 broad.mit.edu 37 5 176952164 176952164 + Missense_Mutation SNP C C T TCGA-RW-A681-01A-11D-A35D-08 TCGA-RW-A681-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cecab91-4ebe-445b-a47f-90e9e970f7fb b93b415b-3112-47cc-bd50-43798db2a87e g.chr5:176952164C>T ENST00000329540.5 - 9 3025 c.196G>A c.(196-198)Gca>Aca p.A66T FAM193B_ENST00000514747.1_Missense_Mutation_p.A440T|FAM193B_ENST00000443375.2_Missense_Mutation_p.A407T Q6IPW0 Q6IPW0_HUMAN family with sequence similarity 193, member B 116 kidney(1)|large_intestine(3) 4 ACACGATTTGCCTGCTTTAGA 0.577000 3 34 0 0 1 0 0 KRT35 3886 broad.mit.edu 37 17 39637289 39637289 + Missense_Mutation SNP C C A TCGA-RW-A681-01A-11D-A35D-08 TCGA-RW-A681-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cecab91-4ebe-445b-a47f-90e9e970f7fb b93b415b-3112-47cc-bd50-43798db2a87e g.chr17:39637289C>A ENST00000393989.1 - 1 103 c.61G>T c.(61-63)Gcc>Tcc p.A21S KRT35_ENST00000246639.2_5'UTR NM_002280.4 NP_002271.3 Q92764 KRT35_HUMAN keratin 35 21 Head. anatomical structure morphogenesis intermediate filament protein binding|structural molecule activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(137;0.000286) CCCCCACTGGCCCCTCCTGGG 0.577000 13 43 0.00185496 0.0018981 1 1 0 CLCA1 1179 broad.mit.edu 37 1 86934788 86934788 + Missense_Mutation SNP A A C TCGA-RW-A681-01A-11D-A35D-08 TCGA-RW-A681-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cecab91-4ebe-445b-a47f-90e9e970f7fb b93b415b-3112-47cc-bd50-43798db2a87e g.chr1:86934788A>C ENST00000234701.3 + 2 485 c.134A>C c.(133-135)gAa>gCa p.E45A CLCA1_ENST00000394711.1_Missense_Mutation_p.E45A A8K7I4 CLCA1_HUMAN chloride channel accessory 1 45 calcium ion transport extracellular space|integral to plasma membrane chloride channel activity NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 Lung NSC(277;0.239) all cancers(265;0.0249)|Epithelial(280;0.0476) AATGTGCCAGAAGATGAAACA 0.383000 31 0 0 0 1 0 0 CTBP1 1487 broad.mit.edu 37 4 1235191 1235191 + Translation_Start_Site SNP G G T TCGA-RW-A681-01A-11D-A35D-08 TCGA-RW-A681-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cecab91-4ebe-445b-a47f-90e9e970f7fb b93b415b-3112-47cc-bd50-43798db2a87e g.chr4:1235191G>T ENST00000510568.1 - 0 520 CTBP1_ENST00000515690.1_5'UTR|CTBP1_ENST00000290921.6_Intron|CTBP1_ENST00000382952.3_De_novo_Start_InFrame Q13363 CTBP1_HUMAN C-terminal binding protein 1 interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation cytoplasm|transcriptional repressor complex NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1) 8 OV - Ovarian serous cystadenocarcinoma(23;0.00818) Colorectal(103;0.2) aggatccccaggcagaaCCGC 0.527000 23 40 1.22574e-08 1.34831e-08 1 1 0 ATP6V1G3 127124 broad.mit.edu 37 1 198498307 198498307 + Missense_Mutation SNP T T A TCGA-RW-A681-01A-11D-A35D-08 TCGA-RW-A681-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cecab91-4ebe-445b-a47f-90e9e970f7fb b93b415b-3112-47cc-bd50-43798db2a87e g.chr1:198498307T>A ENST00000309309.7 - 4 238 c.133A>T c.(133-135)Agg>Tgg p.R45W ATP6V1G3_ENST00000281087.2_Missense_Mutation_p.K29N|ATP6V1G3_ENST00000367381.1_Missense_Mutation_p.K35N|ATP6V1G3_ENST00000489986.1_Missense_Mutation_p.K35N|ATP6V1G3_ENST00000367382.1_Missense_Mutation_p.K29N NM_133326.1 NP_579872.1 Q96LB4 VATG3_HUMAN ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3 0 cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex ATPase binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1) 7 ATCGCTTTCCTTTTCCTGAAA 0.254000 18 28 0 0 1 0 0 TAS2R8 50836 broad.mit.edu 37 12 10959260 10959260 + Missense_Mutation SNP T T C TCGA-RW-A681-01A-11D-A35D-08 TCGA-RW-A681-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cecab91-4ebe-445b-a47f-90e9e970f7fb b93b415b-3112-47cc-bd50-43798db2a87e g.chr12:10959260T>C ENST00000240615.2 - 1 632 c.320A>G c.(319-321)tAt>tGt p.Y107C NM_023918.1 NP_076407.1 Q9NYW2 TA2R8_HUMAN taste receptor, type 2, member 8 107 sensory perception of taste integral to membrane taste receptor activity endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 CTTCAGAAAATAGAAGACATT 0.383000 37 35 0 0 1 0 0 FRG1BP 284802 broad.mit.edu 37 20 29625877 29625877 + Missense_Mutation SNP G G A rs7266938 by1000genomes TCGA-RW-A681-01A-11D-A35D-08 TCGA-RW-A681-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cecab91-4ebe-445b-a47f-90e9e970f7fb b93b415b-3112-47cc-bd50-43798db2a87e g.chr20:29625877G>A ENST00000278882.3 + 5 501 c.121G>A c.(121-123)Gcc>Acc p.A41T FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T p.A41T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTACAGAATCGCCCTGAAATC 0.358000 7 99 0 0 1 0 0 TERF2 7014 broad.mit.edu 37 16 69404385 69404385 + Missense_Mutation SNP C C T TCGA-RW-A681-01A-11D-A35D-08 TCGA-RW-A681-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cecab91-4ebe-445b-a47f-90e9e970f7fb b93b415b-3112-47cc-bd50-43798db2a87e g.chr16:69404385C>T ENST00000567296.2 - 5 857 c.841G>A c.(841-843)Gtg>Atg p.V281M TERF2_ENST00000254942.3_Splice_Site|TERF2_ENST00000569611.2_Splice_Site|TERF2_ENST00000603068.1_Splice_Site Q15554 TERF2_HUMAN telomeric repeat binding factor 2 239 age-dependent telomere shortening|cell cycle|cellular senescence|negative regulation of telomere maintenance via semi-conservative replication|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of transcription, DNA-dependent|telomeric loop formation Golgi apparatus|nuclear telomere cap complex|nucleoplasm double-stranded telomeric DNA binding|protein C-terminus binding|protein homodimerization activity NS(2)|breast(1)|large_intestine(3)|lung(1) 7 Ovarian(137;0.101) CCAAGGCGCACCGTGAGGAGG 0.512000 3 53 0 0 1 0 0 SVOPL 136306 broad.mit.edu 37 7 138313042 138313042 + Missense_Mutation SNP C C A TCGA-RW-A681-01A-11D-A35D-08 TCGA-RW-A681-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cecab91-4ebe-445b-a47f-90e9e970f7fb b93b415b-3112-47cc-bd50-43798db2a87e g.chr7:138313042C>A ENST00000421622.1 - 7 778 c.570G>T c.(568-570)ttG>ttT p.L190F SVOPL_ENST00000419765.3_Missense_Mutation_p.L310F|SVOPL_ENST00000288513.5_Missense_Mutation_p.L158F|SVOPL_ENST00000436657.1_Missense_Mutation_p.L158F Q8N434 SVOPL_HUMAN SVOP-like 310 integral to membrane transmembrane transporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 19 AACCACAGACCAAGTCCCGCT 0.562000 17 23 5.01169e-05 5.3784e-05 1 1 0 ACAP3 116983 broad.mit.edu 37 1 1233463 1233463 + Missense_Mutation SNP G G A TCGA-RW-A681-01A-11D-A35D-08 TCGA-RW-A681-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cecab91-4ebe-445b-a47f-90e9e970f7fb b93b415b-3112-47cc-bd50-43798db2a87e g.chr1:1233463G>A ENST00000354700.5 - 13 1148 c.946C>T c.(946-948)Cgc>Tgc p.R316C ACAP3_ENST00000353662.3_Missense_Mutation_p.R274C|ACAP3_ENST00000379037.2_5'UTR NM_030649.2 NP_085152.2 Q96P50 ACAP3_HUMAN ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 316 PH. filopodium assembly|regulation of ARF GTPase activity|signal transduction ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 14 GAGCACAGGCGGAGGTCATCC 0.682000 3 19 0 0 1 0 0 SLIT1 6585 broad.mit.edu 37 10 98808821 98808821 + Silent SNP G G A TCGA-RW-A681-01A-11D-A35D-08 TCGA-RW-A681-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cecab91-4ebe-445b-a47f-90e9e970f7fb b93b415b-3112-47cc-bd50-43798db2a87e g.chr10:98808821G>A ENST00000266058.4 - 14 1601 c.1356C>T c.(1354-1356)gaC>gaT p.D452D ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Silent_p.D452D NM_003061.2 NP_003052.2 O75093 SLIT1_HUMAN slit homolog 1 (Drosophila) 452 LRRCT 2. axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space calcium ion binding|Roundabout binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 78 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) TGCGCAGGAAGTCTGCCAGCC 0.582000 9 57 0 0 1 0 0 PCDHGA8 9708 broad.mit.edu 37 5 140773281 140773281 + Missense_Mutation SNP A A G TCGA-RW-A681-01A-11D-A35D-08 TCGA-RW-A681-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cecab91-4ebe-445b-a47f-90e9e970f7fb b93b415b-3112-47cc-bd50-43798db2a87e g.chr5:140773281A>G ENST00000398604.2 + 1 901 c.901A>G c.(901-903)Ata>Gta p.I301V PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron NM_032088.1 NP_114477.1 endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 51 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TACTGGGGAAATATCAATAGC 0.388000 3 85 0 0 1 0 0 DIP2C 22982 broad.mit.edu 37 10 445145 445145 + Missense_Mutation SNP G G C TCGA-RW-A681-01A-11D-A35D-08 TCGA-RW-A681-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cecab91-4ebe-445b-a47f-90e9e970f7fb b93b415b-3112-47cc-bd50-43798db2a87e g.chr10:445145G>C ENST00000280886.6 - 10 1251 c.1164C>G c.(1162-1164)ttC>ttG p.F388L DIP2C_ENST00000381496.3_Missense_Mutation_p.F281L NM_014974.2 NP_055789.1 Q9Y2E4 DIP2C_HUMAN DIP2 disco-interacting protein 2 homolog C (Drosophila) 388 nucleus catalytic activity|transcription factor binding breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) CATTGTTGGGGAACACCAGTG 0.617000 21 36 0 0 1 0 0 DCDC1 341019 broad.mit.edu 37 11 31086025 31086025 + Missense_Mutation SNP G G C TCGA-RW-A681-01A-11D-A35D-08 TCGA-RW-A681-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cecab91-4ebe-445b-a47f-90e9e970f7fb b93b415b-3112-47cc-bd50-43798db2a87e g.chr11:31086025G>C ENST00000597505.1 - 18 2581 c.2582C>G c.(2581-2583)tCt>tGt p.S861C DCDC1_ENST00000437348.1_5'UTR P59894 DCDC1_HUMAN doublecortin domain containing 1 0 intracellular signal transduction central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) CCTCTGAGCAGAAGCCTTAGG 0.438000 42 38 0 0 1 0 0 ABCA13 154664 broad.mit.edu 37 7 48314395 48314395 + Missense_Mutation SNP G G T TCGA-RW-A681-01A-11D-A35D-08 TCGA-RW-A681-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cecab91-4ebe-445b-a47f-90e9e970f7fb b93b415b-3112-47cc-bd50-43798db2a87e g.chr7:48314395G>T ENST00000435803.1 + 17 5156 c.5132G>T c.(5131-5133)gGc>gTc p.G1711V NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 1711 transport integral to membrane ATP binding|ATPase activity 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 TTGCTTGTTGGCTTGATGGAA 0.393000 16 65 2.5808e-16 2.91167e-16 1 1 0 POLR3B 55703 broad.mit.edu 37 12 106820987 106820987 + Missense_Mutation SNP C C T TCGA-RW-A681-01A-11D-A35D-08 TCGA-RW-A681-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cecab91-4ebe-445b-a47f-90e9e970f7fb b93b415b-3112-47cc-bd50-43798db2a87e g.chr12:106820987C>T ENST00000228347.4 + 13 1336 c.1114C>T c.(1114-1116)Ctt>Ttt p.L372F POLR3B_ENST00000539066.1_Missense_Mutation_p.L314F|POLR3B_ENST00000549195.1_3'UTR NM_018082.5 NP_060552.4 Q9NW08 RPC2_HUMAN polymerase (RNA) III (DNA directed) polypeptide B 372 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding p.L372F(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2) 57 TTTATCTCTTCTTTTTGAAGA 0.274000 8 32 0 0 1 0 0 AMER1 139285 broad.mit.edu 37 X 63412784 63412784 + Missense_Mutation SNP G G A TCGA-RW-A681-01A-11D-A35D-08 TCGA-RW-A681-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cecab91-4ebe-445b-a47f-90e9e970f7fb b93b415b-3112-47cc-bd50-43798db2a87e g.chrX:63412784G>A ENST00000330258.3 - 2 655 c.383C>T c.(382-384)cCc>cTc p.P128L AMER1_ENST00000374869.3_Missense_Mutation_p.P128L|AMER1_ENST00000403336.1_Missense_Mutation_p.P128L NM_152424.3 NP_689637.3 APC membrane recruitment protein 1 p.0?(67) CTGAGAGCTGGGAAATTGGCA 0.552000 19 16 0 0 1 0 0 COL12A1 1303 broad.mit.edu 37 6 75811733 75811733 + Silent SNP T T C TCGA-RW-A681-01A-11D-A35D-08 TCGA-RW-A681-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cecab91-4ebe-445b-a47f-90e9e970f7fb b93b415b-3112-47cc-bd50-43798db2a87e g.chr6:75811733T>C ENST00000322507.8 - 57 8760 c.8451A>G c.(8449-8451)ccA>ccG p.P2817P COL12A1_ENST00000345356.6_Silent_p.P1653P|COL12A1_ENST00000483888.2_Silent_p.P2817P|COL12A1_ENST00000416123.2_Silent_p.P2741P NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 2817 Triple-helical region (COL2) with 1 imperfection. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 CTGGAAGTCCTGGCTCTCCAG 0.458000 4 150 0 0 1 0 0 DCAF17 80067 broad.mit.edu 37 2 172306405 172306405 + Missense_Mutation SNP A A T TCGA-RW-A681-01A-11D-A35D-08 TCGA-RW-A681-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cecab91-4ebe-445b-a47f-90e9e970f7fb b93b415b-3112-47cc-bd50-43798db2a87e g.chr2:172306405A>T ENST00000375255.3 + 5 802 c.475A>T c.(475-477)Act>Tct p.T159S DCAF17_ENST00000468592.1_3'UTR|DCAF17_ENST00000539783.1_Missense_Mutation_p.T159S NM_025000.3 NP_079276.2 Q5H9S7 DCA17_HUMAN DDB1 and CUL4 associated factor 17 159 CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1) 17 GAGCTGGGACACTCCTCAAGA 0.338000 3 43 0 0 1 0 0 ZNF394 84124 broad.mit.edu 37 7 99091213 99091213 + Missense_Mutation SNP C C T TCGA-RW-A681-01A-11D-A35D-08 TCGA-RW-A681-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cecab91-4ebe-445b-a47f-90e9e970f7fb b93b415b-3112-47cc-bd50-43798db2a87e g.chr7:99091213C>T ENST00000337673.6 - 3 1828 c.1625G>A c.(1624-1626)cGa>cAa p.R542Q ZNF789_ENST00000493485.1_Intron|ZNF394_ENST00000426306.2_3'UTR|ZNF789_ENST00000494186.1_Intron NM_032164.2 NP_115540.2 Q53GI3 ZN394_HUMAN zinc finger protein 394 542 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1) 16 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) TCTTTGGTGTCGGATAAGGTG 0.463000 75 81 0 0 1 0 0 WDR11 55717 broad.mit.edu 37 10 122619631 122619631 + Missense_Mutation SNP G G C TCGA-RW-A681-01A-11D-A35D-08 TCGA-RW-A681-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cecab91-4ebe-445b-a47f-90e9e970f7fb b93b415b-3112-47cc-bd50-43798db2a87e g.chr10:122619631G>C ENST00000263461.6 + 4 609 c.363G>C c.(361-363)tgG>tgC p.W121C NM_018117.11 NP_060587.8 Q9BZH6 WDR11_HUMAN WD repeat domain 11 121 integral to membrane breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5) 38 ATGTTCAGTGGTTGTGGAATC 0.428000 32 87 0 0 1 0 0 CLEC4M 10332 broad.mit.edu 37 19 7831056 7831056 + Silent SNP A A G TCGA-RW-A681-01A-11D-A35D-08 TCGA-RW-A681-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cecab91-4ebe-445b-a47f-90e9e970f7fb b93b415b-3112-47cc-bd50-43798db2a87e g.chr19:7831056A>G ENST00000327325.5 + 4 865 c.747A>G c.(745-747)caA>caG p.Q249Q CLEC4M_ENST00000394122.2_Silent_p.Q237Q|CLEC4M_ENST00000357361.2_Silent_p.Q249Q|CLEC4M_ENST00000334806.5_Silent_p.Q198Q|CLEC4M_ENST00000359059.5_Intron|CLEC4M_ENST00000595496.1_Intron|CLEC4M_ENST00000596707.1_Intron|CLEC4M_ENST00000597522.1_Intron|CLEC4M_ENST00000596363.1_Silent_p.Q221Q|CLEC4M_ENST00000248228.4_Silent_p.Q227Q NM_001144909.1|NM_014257.4 NP_001138381.1|NP_055072.3 Q9H2X3 CLC4M_HUMAN C-type lectin domain family 4, member M 249 7 X approximate tandem repeats. cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to plasma membrane ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1) 26 AGCAGCAGCAAATCTATCAAG 0.512000 62 46 0 0 1 0 0 USP36 57602 broad.mit.edu 37 17 76831368 76831368 + Missense_Mutation SNP G G A rs151065333 byFrequency TCGA-RW-A681-01A-11D-A35D-08 TCGA-RW-A681-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cecab91-4ebe-445b-a47f-90e9e970f7fb b93b415b-3112-47cc-bd50-43798db2a87e g.chr17:76831368G>A ENST00000312010.6 - 4 793 c.469C>T c.(469-471)Cgc>Tgc p.R157C USP36_ENST00000542802.2_Missense_Mutation_p.R157C|USP36_ENST00000589424.1_Missense_Mutation_p.R157C|USP36_ENST00000590546.2_Missense_Mutation_p.R157C NM_025090.3 NP_079366.3 Q9P275 UBP36_HUMAN ubiquitin specific peptidase 36 157 ubiquitin-dependent protein catabolic process nucleolus cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 34 BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151) TCACAGCTGCGAGCATGCTCC 0.552000 4 36 0 0 1 0 0 CCDC64 92558 broad.mit.edu 37 12 120510313 120510313 + Splice_Site SNP A A G TCGA-RW-A681-01A-11D-A35D-08 TCGA-RW-A681-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cecab91-4ebe-445b-a47f-90e9e970f7fb b93b415b-3112-47cc-bd50-43798db2a87e g.chr12:120510313A>G ENST00000397558.2 + 6 1089 c.e6-1 CCDC64_ENST00000257583.4_Splice_Site|CCDC64_ENST00000446727.2_Intron NM_207311.2 NP_997194.2 Q6ZP65 BICR1_HUMAN coiled-coil domain containing 64 Golgi to secretory granule transport|neuron projection development centrosome dynactin binding|Rab GTPase binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 22 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TCTGTGGAACAGCTGAGACTG 0.502000 25 58 0 0 1 0 0 UNC13D 201294 broad.mit.edu 37 17 73825012 73825012 + Missense_Mutation SNP C C A TCGA-RW-A681-01A-11D-A35D-08 TCGA-RW-A681-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cecab91-4ebe-445b-a47f-90e9e970f7fb b93b415b-3112-47cc-bd50-43798db2a87e g.chr17:73825012C>A ENST00000207549.4 - 31 3386 c.3007G>T c.(3007-3009)Gtg>Ttg p.V1003L UNC13D_ENST00000412096.2_Missense_Mutation_p.V1003L NM_199242.2 NP_954712.1 Q70J99 UN13D_HUMAN unc-13 homolog D (C. elegans) 1003 C2 2. positive regulation of exocytosis|regulation of mast cell degranulation exocytic vesicle|late endosome|lysosome|membrane|recycling endosome protein binding central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154) TAGTCCAGCACGGTGAGCAGG 0.706000 Familial Hemophagocytic Lymphohistiocytosis 11 14 0.000978159 0.00102474 1 1 0 CSDE1 7812 broad.mit.edu 37 1 115268982 115268985 + Frame_Shift_Del DEL TGTT TGTT - TCGA-RW-A681-01A-11D-A35D-08 TCGA-RW-A681-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cecab91-4ebe-445b-a47f-90e9e970f7fb b93b415b-3112-47cc-bd50-43798db2a87e g.chr1:115268982_115268985delTGTT ENST00000438362.2 - 14 2003_2006 c.1625_1628delAACA c.(1624-1629)agfs p.KQ542fs CSDE1_ENST00000339438.6_Frame_Shift_Del_p.KQ465fs|CSDE1_ENST00000369530.1_Frame_Shift_Del_p.KQ511fs|CSDE1_ENST00000261443.5_Frame_Shift_Del_p.KQ465fs|CSDE1_ENST00000534699.1_Frame_Shift_Del_p.KQ496fs|CSDE1_ENST00000358528.4_Frame_Shift_Del_p.KQ496fs|CSDE1_ENST00000530886.1_Frame_Shift_Del_p.KQ366fs NM_001242891.1 NP_001229820.1 O75534 CSDE1_HUMAN cold shock domain containing E1, RNA-binding 496 CSD 7. male gonad development|regulation of transcription, DNA-dependent cytoplasm DNA binding|protein binding|RNA binding NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 51 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TCCAGGCCTCTGTTTGTCACTAAT 0.397 30 9 --- --- --- --- TMEM184A 202915 broad.mit.edu 37 7 1586653 1586654 + In_Frame_Ins INS - - GCC rs112463195 by1000genomes TCGA-RW-A681-01A-11D-A35D-08 TCGA-RW-A681-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cecab91-4ebe-445b-a47f-90e9e970f7fb b93b415b-3112-47cc-bd50-43798db2a87e g.chr7:1586653_1586654insGCC ENST00000297477.5 - 9 1492_1493 c.1176_1177insGGC c.(1174-1179)ggccgg>ggGGCccgg p.392_393GR>GAR NM_001097620.1 NP_001091089.1 Q6ZMB5 T184A_HUMAN transmembrane protein 184A 392 integral to membrane endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 12 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15) CTCCCGCCGGAGCCGCCGCTGG 0.708 6 9 --- --- --- --- LOC642426 642426 broad.mit.edu 37 14 19408019 19408019 + RNA DEL A A - TCGA-RW-A681-01A-11D-A35D-08 TCGA-RW-A681-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cecab91-4ebe-445b-a47f-90e9e970f7fb b93b415b-3112-47cc-bd50-43798db2a87e g.chr14:19408019delA ENST00000548050.1 - 0 279 NR_046104.1 CTGTGGAGCCAAAAAAAAAAT 0.393 3 6 --- --- --- --- TAOK2 9344 broad.mit.edu 37 16 29989145 29989146 + Frame_Shift_Del DEL CT CT - TCGA-RW-A681-01A-11D-A35D-08 TCGA-RW-A681-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cecab91-4ebe-445b-a47f-90e9e970f7fb b93b415b-3112-47cc-bd50-43798db2a87e g.chr16:29989145_29989146delCT ENST00000308893.4 + 2 1095_1096 c.52_53delCT c.(52-54)cfs p.L18fs TAOK2_ENST00000543033.1_Frame_Shift_Del_p.L18fs|TAOK2_ENST00000279394.3_Frame_Shift_Del_p.L18fs NM_001252043.1|NM_016151.3 NP_001238972.1|NP_057235.2 Q9UL54 TAOK2_HUMAN TAO kinase 2 18 actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 TGTGGCTGAGCTCTTCTTCAAG 0.609 44 38 --- --- --- --- TBC1D3P2 440452 broad.mit.edu 37 17 60347260 60347260 + RNA DEL T T - rs71816198 TCGA-RW-A681-01A-11D-A35D-08 TCGA-RW-A681-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cecab91-4ebe-445b-a47f-90e9e970f7fb b93b415b-3112-47cc-bd50-43798db2a87e g.chr17:60347260delT ENST00000581291.1 - 0 581 breast(2)|kidney(1)|lung(2) 5 CTCTGAATGATTTTTTTTTTT 0.448 2 4 --- --- --- ---