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- Filename
- rna_s1221_S42.arriba.fusions.filtered_pass_only.tsv
- Full Path
- s3://natera-platform-sandbox/users/smarinkovic/rnapipeline_vcf_bgzip_final_test/arriba/rna_s1221_S42.arriba.fusions.filtered_pass_only.tsv
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- Workflow Run
- rnapipeline_vcf_bgzip_final_test
- Published
- Jun 03, 2026 6:04 AM
Content
View in new tab| #gene1 | gene2 | strand1(gene/fusion) | strand2(gene/fusion) | breakpoint1 | breakpoint2 | site1 | site2 | type | split_reads1 | split_reads2 | discordant_mates | coverage1 | coverage2 | confidence | reading_frame | tags | retained_protein_domains | closest_genomic_breakpoint1 | closest_genomic_breakpoint2 | gene_id1 | gene_id2 | transcript_id1 | transcript_id2 | direction1 | direction2 | filters | fusion_transcript | peptide_sequence | read_identifiers | breakpoint_ID | vaf1 | vaf2 | vaf_avg | total_reads | blacklisted | aih_curated_reason | FILTER | filter_reason |
| FGFR3 | TACC3 | +/+ | +/+ | chr4:1806934 | chr4:1739702 | CDS/splice-site | CDS/splice-site | duplication | 19 | 19 | 1 | 81 | 162 | high | in-frame | . | Immunoglobulin_I-set_domain(100%),Immunoglobulin_domain(100%),NA(100%),Protein_kinase_domain(100%)|Transforming_acidic_coiled-coil-containing_protein_(TACC)__C-terminal(95%) | . | . | ENSG00000068078.20 | ENSG00000013810.20 | ENST00000412135.7 | ENST00000651472.1 | downstream | upstream | duplicates(10) | CAAGCTGCTGAAGGAGGGCCACCGCATGGACAAGCCCGCCAACTGCACACACGACCT___GTACATGATCATGCGGGAGTGCTGGCATGCCGCGCCCTCCCAGAGGCCCACCTTCAAGCAGCTGGTGGAGGACCTGGACCGTGTCCTTACCGTGACGTCCACCGAC|GTAAAGGCGACACAGGAGGAGAACCGGGAGCTGAGGAGCAGGTGTGAGGAGCTCCACGGGAAGAACCTGGAACTGGG___GAAGATCATGGACAGGTTCGAAGAGGTTGTGTACCAGGCCATGG___AGGAAGTTCAGAAGCAGAAGGAACTTTCCAAAGCTGAAATCCAGAAAGTTCTAAAAGAAAA | KLLKEGHRMDKPANCTHDLYMIMRECWHAAPSQRPTFKQLVEDLDRVLTVTSTD|VKATQEENRELRSRCEELHGKNLELGKIMDRFEEVVYQAMEEVQKQKELSKAEIQKVLKE | LH00166:156:2373MLLT3:1:1172:1619:13834,LH00166:156:2373MLLT3:1:2228:45344:9876,LH00166:156:2373MLLT3:1:2274:29265:21076,LH00166:156:2373MLLT3:2:1175:14185:7537,LH00166:156:2373MLLT3:2:1184:19973:28558,LH00166:156:2373MLLT3:3:1177:27028:5150,LH00166:156:2373MLLT3:4:1112:29497:22117,LH00166:156:2373MLLT3:4:1287:21120:18368,LH00166:156:2373MLLT3:4:2227:24504:18753,LH00166:156:2373MLLT3:4:2279:36810:6976,LH00166:156:2373MLLT3:5:1207:19779:2682,LH00166:156:2373MLLT3:5:1296:20029:29455,LH00166:156:2373MLLT3:5:2161:11873:7633,LH00166:156:2373MLLT3:5:2189:3367:11607,LH00166:156:2373MLLT3:5:2214:8739:9251,LH00166:156:2373MLLT3:6:2101:44133:11591,LH00166:156:2373MLLT3:7:1149:9543:16926,LH00166:156:2373MLLT3:7:1159:18531:3564,LH00166:156:2373MLLT3:8:1176:29876:27292,LH00166:156:2373MLLT3:8:1218:50337:7120,LH00166:156:2373MLLT3:8:2134:13159:6335,LH00166:156:2373MLLT3:8:2155:7990:17182,LH00166:156:2373MLLT3:8:2267:10385:24825,LH00166:156:2373MLLT3:1:1239:20019:22518,LH00166:156:2373MLLT3:2:1161:39871:12600,LH00166:156:2373MLLT3:2:1172:44642:19842,LH00166:156:2373MLLT3:2:1205:37855:29263,LH00166:156:2373MLLT3:2:1205:37864:29279,LH00166:156:2373MLLT3:3:1217:21415:3628,LH00166:156:2373MLLT3:3:1219:42108:14010,LH00166:156:2373MLLT3:4:1114:11402:3804,LH00166:156:2373MLLT3:4:1127:16016:27341,LH00166:156:2373MLLT3:4:1212:44124:19426,LH00166:156:2373MLLT3:4:2146:26334:11959,LH00166:156:2373MLLT3:6:2117:32899:4525,LH00166:156:2373MLLT3:6:2138:23477:4669,LH00166:156:2373MLLT3:6:2236:33112:19025,LH00166:156:2373MLLT3:6:2252:17625:29231,LH00166:156:2373MLLT3:7:1152:5974:19361,LH00166:156:2373MLLT3:7:1202:38928:29199,LH00166:156:2373MLLT3:7:1271:31975:24360,LH00166:156:2373MLLT3:7:2112:35183:3515,LH00166:156:2373MLLT3:7:2183:24208:2378,LH00166:156:2373MLLT3:8:2164:23357:14074,LH00166:156:2373MLLT3:8:2236:27509:5598,LH00166:156:2373MLLT3:8:2241:13704:8627,LH00166:156:2373MLLT3:4:2211:8693:12119,LH00166:156:2373MLLT3:5:1107:36440:9444,LH00166:156:2373MLLT3:7:1253:32890:15724 | chr4:1806934-chr4:1739702 | 0.19402985074626866 | 0.10743801652892562 | 0.15073393363759713 | 39 | False | PASS | ||
| KIF5B | RET | -/- | +/+ | chr10:32017143 | chr10:43114480 | CDS/splice-site | CDS/splice-site | inversion | 1 | 24 | 1 | 208 | 68 | high | in-frame | . | Kinesin_motor_domain(100%)|Protein_kinase_domain(100%) | . | . | ENSG00000170759.11 | ENSG00000165731.20 | ENST00000302418.5 | ENST00000355710.8 | upstream | upstream | duplicates(4),mismatches(1) | CGTGATCGCAAACGCTATCAGCAAGAAGTAGATCGCATAAAGGAAGCAGTCAGGTCAAAGAATATGGCCAGAAGAGGGCATTCTGCACAGATTG|ATCCACTGTGCGACGAGCTGTGCCGCACGGTGATCGCAGCCGCTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCACC | RDRKRYQQEVDRIKEAVRSKNMARRGHSAQI|dPLCDELCRTVIAAAVLFSFIVSVLLSAFCIHCYHKFAHKP | LH00166:156:2373MLLT3:6:1227:47952:25642,LH00166:156:2373MLLT3:1:1123:43911:25081,LH00166:156:2373MLLT3:1:1198:5078:13065,LH00166:156:2373MLLT3:1:1235:31041:14603,LH00166:156:2373MLLT3:1:2263:47526:1737,LH00166:156:2373MLLT3:2:1151:25456:6079,LH00166:156:2373MLLT3:2:1241:17819:5630,LH00166:156:2373MLLT3:2:1242:3903:4076,LH00166:156:2373MLLT3:2:1261:2100:19634,LH00166:156:2373MLLT3:2:2285:30939:28879,LH00166:156:2373MLLT3:2:2288:34009:5230,LH00166:156:2373MLLT3:3:1267:9904:24985,LH00166:156:2373MLLT3:3:2101:17976:26027,LH00166:156:2373MLLT3:3:2268:7250:12440,LH00166:156:2373MLLT3:3:2269:17097:11783,LH00166:156:2373MLLT3:3:2279:4282:19826,LH00166:156:2373MLLT3:3:2283:44272:18849,LH00166:156:2373MLLT3:4:1291:51132:25258,LH00166:156:2373MLLT3:4:2144:30486:10950,LH00166:156:2373MLLT3:5:1137:14934:9668,LH00166:156:2373MLLT3:5:1190:13159:25979,LH00166:156:2373MLLT3:5:2211:30856:24088,LH00166:156:2373MLLT3:5:2286:5762:17551,LH00166:156:2373MLLT3:6:1258:7112:2298,LH00166:156:2373MLLT3:6:2273:2368:16862,LH00166:156:2373MLLT3:7:2204:21175:1993,LH00166:156:2373MLLT3:8:2145:46093:10373,LH00166:156:2373MLLT3:8:2211:17662:11863,LH00166:156:2373MLLT3:8:2287:18281:18737,LH00166:156:2373MLLT3:8:2295:19511:20932,LH00166:156:2373MLLT3:6:1139:40758:9300 | chr10:32017143-chr10:43114480 | 0.007159904534606206 | 0.2648648648648649 | 0.13601238469973553 | 26 | False | PASS | ||
| FGFR3 | BAIAP2L1 | +/+ | -/- | chr4:1806934 | chr7:98362432 | CDS/splice-site | CDS/splice-site | translocation | 22 | 2 | 0 | 81 | 8 | high | in-frame | . | Immunoglobulin_I-set_domain(100%),Immunoglobulin_domain(100%),NA(100%),Protein_kinase_domain(100%)|IRSp53/MIM_homology_domain(99%),Variant_SH3_domain(100%) | . | . | ENSG00000068078.20 | ENSG00000006453.14 | ENST00000412135.7 | ENST00000005260.9 | downstream | downstream | duplicates(3) | AGGAGGGCCACCGCATGGACAAGCCCGCCAACTGCACACACGACCT___GTACATGATCATGCGGGAGTGCTGGCATGCCGCGCCCTCCCAGAGGCCCACCTTCAAGCAGCTGGTGGAGGACCTGGACCGTGTCCTTACCGTGACGTCCACCGAC|AATGTTATGGAACAGTTCAATCCTGGGCTGCGAAATTTAATAAACCTGGGGAAAAATTATGAGAAAGCTGTAAACG | EGHRMDKPANCTHDLYMIMRECWHAAPSQRPTFKQLVEDLDRVLTVTSTD|NVMEQFNPGLRNLINLGKNYEKAVN | LH00166:156:2373MLLT3:1:1149:37587:26107,LH00166:156:2373MLLT3:1:1225:4356:24921,LH00166:156:2373MLLT3:1:2112:51151:9684,LH00166:156:2373MLLT3:2:1184:33047:14010,LH00166:156:2373MLLT3:2:1210:25659:12616,LH00166:156:2373MLLT3:2:2267:41063:20307,LH00166:156:2373MLLT3:2:2268:37531:12552,LH00166:156:2373MLLT3:3:1222:41332:29680,LH00166:156:2373MLLT3:3:1288:25641:9988,LH00166:156:2373MLLT3:4:1181:45446:11238,LH00166:156:2373MLLT3:4:1209:9146:23703,LH00166:156:2373MLLT3:4:1247:47268:15292,LH00166:156:2373MLLT3:4:2114:22497:20659,LH00166:156:2373MLLT3:5:1124:19945:1176,LH00166:156:2373MLLT3:5:1228:20925:8482,LH00166:156:2373MLLT3:6:1280:32612:2811,LH00166:156:2373MLLT3:6:2277:14878:9059,LH00166:156:2373MLLT3:6:2281:28221:21765,LH00166:156:2373MLLT3:7:1276:2267:23543,LH00166:156:2373MLLT3:7:2257:31226:15885,LH00166:156:2373MLLT3:8:1201:21443:28094,LH00166:156:2373MLLT3:8:1207:30236:20387,LH00166:156:2373MLLT3:8:1236:46999:11911,LH00166:156:2373MLLT3:8:2173:31577:28927,LH00166:156:2373MLLT3:8:2211:39381:17231,LH00166:156:2373MLLT3:5:2259:17153:27517,LH00166:156:2373MLLT3:6:2230:51049:4957 | chr4:1806934-chr7:98362432 | 0.21359223300970873 | 0.2 | 0.20679611650485435 | 24 | False | PASS | ||
| LMNA | NTRK1 | +/+ | +/+ | chr1:156130773 | chr1:156874906 | CDS/splice-site | CDS/splice-site | deletion | 15 | 9 | 0 | 311 | 93 | high | in-frame | . | Intermediate_filament_protein(39%)|Protein_kinase_domain(100%),Tyrosine_kinase_receptor_A_trans-membrane_domain(95%) | . | . | ENSG00000160789.23 | ENSG00000198400.13 | ENST00000368301.6 | ENST00000392302.7 | downstream | upstream | duplicates(6) | GGGTGACCTGATAGCTGCTCAGGCTCGGCTGAAGGACCTGGAGGCTCTGCTGAACTCCAAGGAGGCCGCACTGAGCACTGCTCTCAGTGAGAAGCGCACGCTGGAGGGCGAGCTGCATGATCTGCGGGGCCAGGTGGCCAAG|GTCTCGGTGGCTGTGGGCCTGGCCGTCTTTGCCTGCCTCTTCCTTTCTACGCTGCTCCTTGTGCTCAACAAATGTGGACGGAGAAACAAGTTTGGG | GDLIAAQARLKDLEALLNSKEAALSTALSEKRTLEGELHDLRGQVAK|VSVAVGLAVFACLFLSTLLLVLNKCGRRNKF | LH00166:156:2373MLLT3:1:1122:13159:27004,LH00166:156:2373MLLT3:1:2116:43014:11190,LH00166:156:2373MLLT3:1:2160:18096:16269,LH00166:156:2373MLLT3:2:1102:44845:13754,LH00166:156:2373MLLT3:2:2219:47943:3099,LH00166:156:2373MLLT3:3:2121:25114:26059,LH00166:156:2373MLLT3:3:2141:34628:14827,LH00166:156:2373MLLT3:3:2259:49681:28222,LH00166:156:2373MLLT3:3:2278:12484:26283,LH00166:156:2373MLLT3:4:1227:39029:2554,LH00166:156:2373MLLT3:4:2172:36625:11334,LH00166:156:2373MLLT3:6:1285:42219:9428,LH00166:156:2373MLLT3:6:2252:28923:19073,LH00166:156:2373MLLT3:6:2284:5558:27100,LH00166:156:2373MLLT3:7:2219:3478:21092,LH00166:156:2373MLLT3:8:2144:7186:20852,LH00166:156:2373MLLT3:8:2144:7195:20836,LH00166:156:2373MLLT3:8:2145:49403:2554,LH00166:156:2373MLLT3:8:2150:34859:18208,LH00166:156:2373MLLT3:8:2268:40906:25065,LH00166:156:2373MLLT3:8:2285:44993:28815,LH00166:156:2373MLLT3:1:1166:8434:20675,LH00166:156:2373MLLT3:3:1208:11254:7617,LH00166:156:2373MLLT3:3:2212:6603:28013,LH00166:156:2373MLLT3:4:1143:26427:18849,LH00166:156:2373MLLT3:4:2145:39492:2458,LH00166:156:2373MLLT3:5:1240:40074:28174,LH00166:156:2373MLLT3:5:2138:21656:8018,LH00166:156:2373MLLT3:6:1272:42561:11751,LH00166:156:2373MLLT3:8:2170:10819:8306 | chr1:156130773-chr1:156874906 | 0.046012269938650305 | 0.08823529411764706 | 0.06712378202814868 | 24 | False | PASS | ||
| ETV6 | NTRK3 | +/+ | -/- | chr12:11869969 | chr15:87940753 | CDS/splice-site | CDS/splice-site | translocation | 11 | 3 | 0 | 146 | 7 | high | in-frame | . | Sterile_alpha_motif_(SAM)/Pointed_domain(100%)|Protein_kinase_domain(100%) | . | . | ENSG00000139083.11 | ENSG00000140538.16 | ENST00000396373.9 | ENST00000394480.6 | downstream | downstream | duplicates(1) | CGTGGATTTCAAACAGTCCAGGCTCTCCGAGGACGGGCTGCATAGGGAAGGGAAGCCCATCAACCTCTCTCATCGGGAAGACCTGGCTTACATGAACCACATCATGGTCTCTGTCTCCCCGCCTGAAGAGCACGCCATGCCCATTGGGAGAATAGCAG|ATGTGCAGCACATTAAGAGGAGAGACATCGTGCTGAAGCGAGAACTGGGTGAGGGAGCCTTTGGAAAGGTCTTCCTGGCCGAGTGCTACAACCTCAGCCCGACCA | VDFKQSRLSEDGLHREGKPINLSHREDLAYMNHIMVSVSPPEEHAMPIGRIA|dVQHIKRRDIVLKRELGEGAFGKVFLAECYNLSPT | LH00166:156:2373MLLT3:1:2226:17698:7633,LH00166:156:2373MLLT3:2:1229:43680:29520,LH00166:156:2373MLLT3:2:1268:25965:21284,LH00166:156:2373MLLT3:2:2274:12326:27549,LH00166:156:2373MLLT3:3:2101:16469:4925,LH00166:156:2373MLLT3:5:2262:43236:15965,LH00166:156:2373MLLT3:5:2288:18022:7938,LH00166:156:2373MLLT3:5:2289:32890:6111,LH00166:156:2373MLLT3:7:2141:26048:20884,LH00166:156:2373MLLT3:8:1182:47489:3211,LH00166:156:2373MLLT3:8:1263:34351:15372,LH00166:156:2373MLLT3:8:2109:41147:5422,LH00166:156:2373MLLT3:5:1193:25909:4909,LH00166:156:2373MLLT3:7:1257:4375:19602,LH00166:156:2373MLLT3:8:1158:14869:20259 | chr12:11869969-chr15:87940753 | 0.07006369426751592 | 0.3 | 0.18503184713375795 | 14 | False | PASS | ||
| EGFR | SEPTIN14 | +/+ | -/- | chr7:55200413 | chr7:55796092 | CDS/splice-site | CDS/splice-site | inversion | 7 | 6 | 0 | 13 | 67 | high | in-frame | . | Furin-like_cysteine_rich_region(100%),Growth_factor_receptor_domain_IV(100%),Protein_kinase_domain(100%),Receptor_L_domain(100%)| | . | . | ENSG00000146648.19 | ENSG00000154997.9 | ENST00000275493.7 | ENST00000388975.4 | downstream | downstream | duplicates(4) | TGTACCATCGATGTCTACATGATCATGGTCAAGT___GCTGGATGATAGACGCAGATAGTCGCCCAAAGTTCCGTGAGTTGATCATCGAATTCTCCAAAATGGCCCGAGACCCCCAGCGCTACCTTGTCATTCAG|CTGCAGGACAAGTTCGAGCATCTTAAAATGATTCAACAGGAGGAGATAAGGAAGCTCGAGGAAGAGAAAAAACAACTGGAAGGAGAAATCATAGATTTTTATAAAATGAAAGCTGCCTCCGAAGCACTGCAGACTCAGCTGAGCACCGATACAAAGAAAGACA | CTIDVYMIMVKCWMIDADSRPKFRELIIEFSKMARDPQRYLVIQ|LQDKFEHLKMIQQEEIRKLEEEKKQLEGEIIDFYKMKAASEALQTQLSTDTKKD | LH00166:156:2373MLLT3:1:1156:27148:12248,LH00166:156:2373MLLT3:2:1242:6677:20355,LH00166:156:2373MLLT3:2:2184:8628:2170,LH00166:156:2373MLLT3:3:1230:40333:8883,LH00166:156:2373MLLT3:4:1121:26233:7585,LH00166:156:2373MLLT3:4:1151:43458:22310,LH00166:156:2373MLLT3:4:2286:7879:28590,LH00166:156:2373MLLT3:7:2286:25077:17471,LH00166:156:2373MLLT3:8:2256:46685:8322,LH00166:156:2373MLLT3:1:1251:31438:8370,LH00166:156:2373MLLT3:2:1166:5863:7954,LH00166:156:2373MLLT3:2:2128:11088:3868,LH00166:156:2373MLLT3:4:2224:43393:2202,LH00166:156:2373MLLT3:6:1134:14462:9396,LH00166:156:2373MLLT3:8:1186:28332:29552,LH00166:156:2373MLLT3:8:1251:5484:25722,LH00166:156:2373MLLT3:8:2123:24578:7441 | chr7:55200413-chr7:55796092 | 0.35 | 0.0821917808219178 | 0.2160958904109589 | 13 | False | PASS | ||
| TFG | NTRK1 | +/+ | +/+ | chr3:100732672 | chr1:156874571 | CDS/splice-site | CDS/splice-site | translocation | 7 | 5 | 0 | 248 | 34 | high | out-of-frame | . | PB1_domain(100%)|Protein_kinase_domain(100%),Tyrosine_kinase_receptor_A_trans-membrane_domain(100%) | . | . | ENSG00000114354.15 | ENSG00000198400.13 | ENST00000675047.1 | ENST00000530298.5 | downstream | upstream | duplicates(3) | CAGGTGAAATATCTCCGTCGAGAACTGATAGAACTTCGAAATAAAGTGAATCGTTTATTGGATAGCTTGGAACCACCTGGAGAACCAGGACCTTCCACCAATATTCCTGAAAATG___ATACTGTGGATGGTAGGGAAGAAAAGTCTGCTTCTGATTCTTCTGGAAAACAGTCTACTCAGGTTATGGCAGCAAGTATGTCTGCTTTTGATCCTTTAAAAAACCAAGATGAAATCAATAAAAATGTTATGTCAGCGTTTGGCTTAACAGATGATCAGGTTTCAG|ACACTAACAGCACATCTGGAGACCCGGTGGAGAAGAAGGACGAAACACCTTTTGGG___GTCTCGGTGGCTGTGGGCCTGGCCGTCTTTGCCTGCCTCTTCCTTTCTACGCTGCTCCTTGTGCTCAACAAATGTGGACGGAGAAACAAGTTTGGGATCAACCG...CGGCTGTcCTGGCTCCAGAGGATGGGCTGGCCATGTCCCTGCATTTCATGACATTGGGTGGCAGCTCCCTGTCCCCCACCGAGGGCAAAGGCTCTGGGCTCCAAGGCCACATCATCGAGAACCCACAATACTTCAGTGATGCCTGTG | QVKYLRRELIELRNKVNRLLDSLEPPGEPGPSTNIPENDTVDGREEKSASDSSGKQSTQVMAASMSAFDPLKNQDEINKNVMSAFGLTDDQVS|dtnstsgdpvekkdetpfgvsvavglavfaclflstlllvlnkcgrrnkfgin | LH00166:156:2373MLLT3:4:1136:30255:10293,LH00166:156:2373MLLT3:5:2249:39482:4044,LH00166:156:2373MLLT3:6:1218:39260:1705,LH00166:156:2373MLLT3:6:1285:20176:2122,LH00166:156:2373MLLT3:6:1285:20186:2106,LH00166:156:2373MLLT3:7:2135:15424:27469,LH00166:156:2373MLLT3:1:1273:9802:19329,LH00166:156:2373MLLT3:3:1204:47721:29343,LH00166:156:2373MLLT3:3:2180:7001:22966,LH00166:156:2373MLLT3:4:2202:35664:22422,LH00166:156:2373MLLT3:5:2264:36172:11607,LH00166:156:2373MLLT3:6:1205:33851:4028,LH00166:156:2373MLLT3:6:2239:44337:15789,LH00166:156:2373MLLT3:7:1155:23644:3644,LH00166:156:2373MLLT3:8:1280:43467:10437 | chr3:100732672-chr1:156874571 | 0.027450980392156862 | 0.1282051282051282 | 0.07782805429864253 | 12 | False | PASS | ||
| SLC45A3 | BRAF | -/- | -/- | chr1:205680394 | chr7:140794467 | 5'UTR/splice-site | CDS/splice-site | translocation | 1 | 11 | 0 | 1 | 195 | high | . | . | |Protein_kinase_domain(100%) | . | . | ENSG00000158715.6 | ENSG00000157764.14 | ENST00000367145.4 | ENST00000644969.2 | upstream | downstream | duplicates(1) | GGCGCGCGTGGGGGGCAAGGAAGGGGGGGCGGAACCAGCCTGCACGCGCTGGCTCCGGGTGACAGCCGCGCGCCTCGGCCAG|GCCCCAAATTCTCACCAGTCCGTCTCCTTCAAAATCCATTCCAATTCCACAGCCCTTCCGACCAGCAGATGAAGATCATCGAAATCAATTTGGGCAACGAGACCGATCCTCATCAGCTCC | . | LH00166:156:2373MLLT3:8:1101:8693:12344,LH00166:156:2373MLLT3:1:1193:28849:22758,LH00166:156:2373MLLT3:2:1129:51253:2778,LH00166:156:2373MLLT3:2:1166:40703:28142,LH00166:156:2373MLLT3:4:2169:37208:4044,LH00166:156:2373MLLT3:5:1152:25345:18480,LH00166:156:2373MLLT3:5:1284:39094:5486,LH00166:156:2373MLLT3:5:2256:34979:8803,LH00166:156:2373MLLT3:8:1191:44817:12552,LH00166:156:2373MLLT3:8:1283:51123:12744,LH00166:156:2373MLLT3:8:2162:4634:23287,LH00166:156:2373MLLT3:8:2170:5152:6592,LH00166:156:2373MLLT3:8:2190:4689:19794 | chr1:205680394-chr7:140794467 | 0.5 | 0.05339805825242718 | 0.2766990291262136 | 12 | False | PASS | ||
| PAX8 | PPARG | -/- | +/+ | chr2:113235394 | chr3:12379704 | CDS/splice-site | CDS/splice-site | translocation | 5 | 6 | 0 | 20 | 40 | high | in-frame | . | 'Paired_box'_domain(100%),Paired-box_protein_2_C_terminal(21%)|Ligand-binding_domain_of_nuclear_hormone_receptor(100%),PPAR_gamma_N-terminal_region(100%),Zinc_finger__C4_type_(two_domains)(100%) | . | . | ENSG00000125618.18 | ENSG00000132170.23 | ENST00000681162.1 | ENST00000287820.10 | upstream | upstream | duplicates(5) | CCAGTTCTAGCTCCACCCCTTCCTCTTTATCTAGCTCCGCCTTTTTGGATCTGCAGCAAGTCGGCTCCGGGGTCCCGCCCTTCAATGCCTTTCCCCATGCTGCCTCCGTGTACGGGCAGTTCACGGGCCAGGCCCTCCTCTCAG|AAATGACCATGGTTGACACAGAGATGCCATTCTGGCCCACCAACTTTGGGATCAGCTCCGTGGATCTCTCCGTAATGGAAGACCACTCCCACTCCTTTGATATCAAGCCCTTCACTACTGTTGACTTCTCCAGC | SSSSTPSSLSSSAFLDLQQVGSGVPPFNAFPHAASVYGQFTGQALLS|eMTMVDTEMPFWPTNFGISSVDLSVMEDHSHSFDIKPFTTVDFS | LH00166:156:2373MLLT3:1:1296:50273:6848,LH00166:156:2373MLLT3:3:1229:19677:28110,LH00166:156:2373MLLT3:4:2102:15045:18224,LH00166:156:2373MLLT3:6:1130:51234:25947,LH00166:156:2373MLLT3:6:2190:29654:7970,LH00166:156:2373MLLT3:7:1287:1499:18080,LH00166:156:2373MLLT3:1:1235:18697:19554,LH00166:156:2373MLLT3:2:1291:24328:27132,LH00166:156:2373MLLT3:3:1116:39556:12151,LH00166:156:2373MLLT3:3:2218:47323:6736,LH00166:156:2373MLLT3:4:1281:23671:8947,LH00166:156:2373MLLT3:4:2179:36625:28318,LH00166:156:2373MLLT3:5:1280:35765:29712,LH00166:156:2373MLLT3:5:2178:24430:5678,LH00166:156:2373MLLT3:7:1154:42154:19057,LH00166:156:2373MLLT3:7:2277:48544:13209 | chr2:113235394-chr3:12379704 | 0.2 | 0.13043478260869565 | 0.16521739130434782 | 11 | False | PASS | ||
| AC015911.9 | SLFN12L | -/- | -/- | chr17:35522279 | chr17:35480195 | exon | CDS/splice-site | deletion/read-through | 2 | 9 | 0 | 24 | 52 | high | . | . | |Putative_DNA-binding_domain(100%) | . | . | ENSG00000286030.2 | ENSG00000205045.11 | ENST00000650652.2 | ENST00000628453.3 | upstream | downstream | duplicates(2) | TGTCCATGGCTTACCTGGCTTAGGAAAGACCATCATGGCCATGAAGATCATGGAGAAGATCAGGAATGTGTTTCACTGTGAGGCACACAGAATTCTCTACATTTGTGAAAGTCAGTTTCTGAGGAATTTCATCAG|AAAAGAATTTCTGCGTGGAAATGGCTTAGCTGCTGGGAAAATGAACATCAGTATTGATTTAGACACAAACTATGCTGAGCTGGTTCTAAATGTGGGAAGAGTCACTCTTGGAGAGAACAATAGAAAAAAAATGAAGGATTGTCAACTGAGAAAACAGCAGAATGAAAATGTCTCACGAGCTGTGTGTGCTCTGCTGAATTCTGGAGGGGGAGTGATCAAGGCTGAAGTTGAGAATAAAGGC | . | LH00166:156:2373MLLT3:2:1140:11457:3323,LH00166:156:2373MLLT3:2:1168:34249:21188,LH00166:156:2373MLLT3:3:1224:11947:5390,LH00166:156:2373MLLT3:5:1220:10986:11382,LH00166:156:2373MLLT3:5:2217:31115:23191,LH00166:156:2373MLLT3:6:1106:20824:22085,LH00166:156:2373MLLT3:6:1106:20833:22069,LH00166:156:2373MLLT3:7:2247:4606:28174,LH00166:156:2373MLLT3:8:2111:36431:14427,LH00166:156:2373MLLT3:8:2168:50689:8627,LH00166:156:2373MLLT3:7:1271:49709:10133,LH00166:156:2373MLLT3:7:1271:49727:10101,LH00166:156:2373MLLT3:8:2162:12336:5198 | chr17:35522279-chr17:35480195 | 0.07692307692307693 | 0.14754098360655737 | 0.11223203026481715 | 11 | False | PASS | ||
| NCOA4 | RET | -/- | +/+ | chr10:46012883 | chr10:43116584 | CDS/splice-site | CDS/splice-site | inversion | 6 | 3 | 0 | 216 | 43 | high | in-frame | . | Nuclear_coactivator(62%)|Protein_kinase_domain(100%) | . | . | ENSG00000266412.6 | ENSG00000165731.20 | ENST00000581486.6 | ENST00000355710.8 | upstream | upstream | duplicates(1) | CTCCATGCCAGAGCAG___AAGTCAGCATCCGGTATTGTAGCTGTCCCTTTCAGCGAATGGCTCCTTGGAAGCAAACCTGCCAGTGGTTATCAAGCTCCTTACATACCCAGCACCGACCCCCAGGACTGGCTTACCCAAAAGCAGACCTTGGAGAACAGTCAG|GAGGATCCAAAGTGGGAATTCCCTCGGAAGAACTTGGTTCTTGGAAAAACTCTAGGAGAAGGCGAATTTGGAAAAGTGGTCAAGGCAACGGCCTTCCATCTGAAAGGCAG | SMPEQKSASGIVAVPFSEWLLGSKPASGYQAPYIPSTDPQDWLTQKQTLENSQ|EDPKWEFPRKNLVLGKTLGEGEFGKVVKATAFHLKG | LH00166:156:2373MLLT3:1:1114:40703:14715,LH00166:156:2373MLLT3:5:1117:38512:11623,LH00166:156:2373MLLT3:6:2130:33722:26812,LH00166:156:2373MLLT3:1:1102:17134:27357,LH00166:156:2373MLLT3:2:2244:30708:4381,LH00166:156:2373MLLT3:4:1276:32067:12536,LH00166:156:2373MLLT3:5:1177:3247:9380,LH00166:156:2373MLLT3:5:1256:4763:8803,LH00166:156:2373MLLT3:5:2208:3950:25306,LH00166:156:2373MLLT3:6:1293:16663:4012 | chr10:46012883-chr10:43116584 | 0.02702702702702703 | 0.06521739130434782 | 0.046122209165687426 | 9 | False | PASS | ||
| TPM3 | NTRK1 | -/- | +/+ | chr1:154170400 | chr1:156874571 | CDS/splice-site | CDS/splice-site | inversion | 4 | 4 | 1 | 692 | 34 | high | in-frame | . | Tropomyosin(78%)|Protein_kinase_domain(100%),Tyrosine_kinase_receptor_A_trans-membrane_domain(100%) | . | . | ENSG00000143549.21 | ENSG00000198400.13 | ENST00000271850.11 | ENST00000392302.7 | upstream | upstream | duplicates(1),mismatches(3) | CTCAAAAAGAAGATAAATATGAGGAAGAAATCAAGATTCTTACTGATAAACTCAAGGAG___GCAGAGACCCGTGCTGAGTTTGCTGAGAGATCGGTAGCCAAGCTGGAAAAGACAATTGATGACCTGGAAG|ACACTAACAGCACATCTGGAGACCCGGTGGAGAAGAAGGACGAAACACCTTTTGGG___GTCTCGGTGGCTGTGGGCCTGGCCGTCTTTGCCTGCCTCTTCCTTTCTACGCTGCTCCTTGTGCTCAACAAATGTGGACGGAGAAACAAGTTTGGGATCAACC___GCCCGGCTGTGCTGGCTCCAGAGGATGGGCTGGCCATGTCCCTGCATTTCATGAC | QKEDKYEEEIKILTDKLKEAETRAEFAERSVAKLEKTIDDLE|dTNSTSGDPVEKKDETPFGVSVAVGLAVFACLFLSTLLLVLNKCGRRNKFGINRPAVLAPEDGLAMSLHFM | LH00166:156:2373MLLT3:4:2256:27194:19121,LH00166:156:2373MLLT3:7:2277:8684:23928,LH00166:156:2373MLLT3:7:2298:45964:5054,LH00166:156:2373MLLT3:8:1124:49080:9364,LH00166:156:2373MLLT3:1:2292:44910:16814,LH00166:156:2373MLLT3:3:1107:1740:2506,LH00166:156:2373MLLT3:5:2113:25826:21749,LH00166:156:2373MLLT3:5:2182:35701:21460,LH00166:156:2373MLLT3:6:1135:39871:24457,LH00166:156:2373MLLT3:6:2235:50115:1513,LH00166:156:2373MLLT3:7:1248:30319:16558,LH00166:156:2373MLLT3:7:2185:4023:2234,LH00166:156:2373MLLT3:2:1195:9728:29488 | chr1:154170400-chr1:156874571 | 0.006460875807609476 | 0.11688311688311688 | 0.061671996345363175 | 9 | False | PASS | ||
| CCDC6 | RET | -/- | +/+ | chr10:59906122 | chr10:43116584 | CDS/splice-site | CDS/splice-site | inversion | 5 | 3 | 0 | 122 | 43 | high | in-frame | . | Uncharacterized_conserved_protein_H4_(DUF2046)(17%)|Protein_kinase_domain(100%) | . | . | ENSG00000108091.11 | ENSG00000165731.20 | ENST00000263102.7 | ENST00000355710.8 | upstream | upstream | . | GGCATTGTCATCTCGCCGTTCCGCCTGGAGGAGCTCACCAACCGCCTGGCCTCGCTGCAGCAAGAGAACAAGGTGCTGAAGATAGAGCTGGAGACCTACAAACTGAAGTGCAAGGCACTGCAGGAGGAGAACCGCGACCTGCGCAAAGCCAGCGTGACCATC|GAGGATCCAAAGTGGGAATTCCCTCGGAAGAACTTGGTTCTTGGAAAAACTCTAGGAGAAGGCGAATTTGGAAAAGTGGTCAAGGCAACGGCCTTCCATCTGAAAGGCAG | GIVISPFRLEELTNRLASLQQENKVLKIELETYKLKCKALQEENRDLRKASVTI|EDPKWEFPRKNLVLGKTLGEGEFGKVVKATAFHLKG | LH00166:156:2373MLLT3:3:2145:11642:19217,LH00166:156:2373MLLT3:4:1187:13898:1945,LH00166:156:2373MLLT3:5:2246:10126:25690,LH00166:156:2373MLLT3:1:1136:51678:13097,LH00166:156:2373MLLT3:2:1109:13704:13273,LH00166:156:2373MLLT3:3:1242:48960:8899,LH00166:156:2373MLLT3:3:2182:29866:19714,LH00166:156:2373MLLT3:5:2250:33796:12584 | chr10:59906122-chr10:43116584 | 0.03937007874015748 | 0.06521739130434782 | 0.05229373502225265 | 8 | False | PASS |
14 rows