File Info
- Filename
- rna_s1221_S42.arriba.fusions.tsv
- Full Path
- s3://natera-platform-sandbox/users/smarinkovic/rnapipeline_vcf_bgzip_final_test/arriba/rna_s1221_S42.arriba.fusions.tsv
- Size
- 38.6 KB
- Workflow Run
- rnapipeline_vcf_bgzip_final_test
- Published
- Jun 03, 2026 6:03 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| ACIN1 | ACIN1 | -/- | -/- | chr14:23079590 | chr14:23079595 | CDS | CDS | duplication/ITD | 23 | 40 | 0 | 71 | 121 | medium | in-frame | . | SAP_domain(100%)|RNSP1-SAP18_binding_(RSB)_motif(100%) | . | . | ENSG00000100813.14 | ENSG00000100813.14 | ENST00000262710.5 | ENST00000262710.5 | upstream | downstream | duplicates(11),low_entropy(1),mismappers(4) | TGACAGTTCAGGTTCTCGGTCTCATTCACCGCTCAGATCCAAGCAGAGAGATGTAGCCCAGGCACGTACTCATGCCAACCCTCGTGGTAGACCCAAGATGGGCTCCAGATCAACATCAGAGTCCAGATCAAG|g|TCAcGtTCAC?TTCACGTTCTCGTTCAGCATCAAGCAACAGCAGAAAA___TCTCTGAGCCCTGGAGTCTCCAGGGACAGCAGCACCAGCTATACTGAAACCAAAGATCCCTCTTCTGGTCAGGAGGTTGCAACTCCACCAGTGCCACA | DSSGSRSHSPLRSKQRDVAQARTHANPRGRPKMGSRSTSESRSr|SRS?SRSRSASSNSRKSLSPGVSRDSSTSYTETKDPSSGQEVATPPVP | LH00166:156:2373MLLT3:1:1101:15258:2538,LH00166:156:2373MLLT3:1:1115:15535:27020,LH00166:156:2373MLLT3:1:1115:26094:27597,LH00166:156:2373MLLT3:1:1275:44993:9492,LH00166:156:2373MLLT3:1:1277:27906:22694,LH00166:156:2373MLLT3:1:2201:10255:16846,LH00166:156:2373MLLT3:1:2246:25669:24585,LH00166:156:2373MLLT3:2:1231:6280:9828,LH00166:156:2373MLLT3:2:1252:18734:11094,LH00166:156:2373MLLT3:2:2155:47073:28318,LH00166:156:2373MLLT3:2:2259:16543:27709,LH00166:156:2373MLLT3:3:1271:23015:9316,LH00166:156:2373MLLT3:3:1276:51659:8130,LH00166:156:2373MLLT3:3:2106:50208:16221,LH00166:156:2373MLLT3:3:2116:16478:26283,LH00166:156:2373MLLT3:3:2177:21101:27180,LH00166:156:2373MLLT3:3:2261:26492:2554,LH00166:156:2373MLLT3:4:1165:14666:12023,LH00166:156:2373MLLT3:4:2183:5318:18000,LH00166:156:2373MLLT3:5:2128:4856:23864,LH00166:156:2373MLLT3:5:2144:13824:26684,LH00166:156:2373MLLT3:5:2223:8415:26027,LH00166:156:2373MLLT3:5:2266:33352:6656,LH00166:156:2373MLLT3:6:1138:1055:22534,LH00166:156:2373MLLT3:6:1288:1823:16750,LH00166:156:2373MLLT3:6:2276:16256:9396,LH00166:156:2373MLLT3:7:1257:45945:28542,LH00166:156:2373MLLT3:8:1228:16977:13754,LH00166:156:2373MLLT3:8:1247:13871:9972,LH00166:156:2373MLLT3:8:2131:22479:1401,LH00166:156:2373MLLT3:1:1167:15886:29135,LH00166:156:2373MLLT3:1:1279:35839:15933,LH00166:156:2373MLLT3:1:2136:11938:19762,LH00166:156:2373MLLT3:1:2155:22174:13401,LH00166:156:2373MLLT3:1:2165:6326:23239,LH00166:156:2373MLLT3:1:2192:36718:13449,LH00166:156:2373MLLT3:1:2198:29071:8370,LH00166:156:2373MLLT3:1:2221:20907:22806,LH00166:156:2373MLLT3:2:1148:42774:18176,LH00166:156:2373MLLT3:2:1211:12502:5999,LH00166:156:2373MLLT3:2:1226:48553:13193,LH00166:156:2373MLLT3:2:2196:13455:12552,LH00166:156:2373MLLT3:2:2271:34896:7858,LH00166:156:2373MLLT3:4:1206:15498:15164,LH00166:156:2373MLLT3:4:1238:5161:17567,LH00166:156:2373MLLT3:4:1261:11873:6896,LH00166:156:2373MLLT3:4:1288:47462:19890,LH00166:156:2373MLLT3:4:2172:38327:12135,LH00166:156:2373MLLT3:4:2215:49588:2234,LH00166:156:2373MLLT3:4:2283:16866:19426,LH00166:156:2373MLLT3:5:1122:30939:6063,LH00166:156:2373MLLT3:5:1124:36727:13818,LH00166:156:2373MLLT3:5:1259:2960:10806,LH00166:156:2373MLLT3:5:2244:51706:18240,LH00166:156:2373MLLT3:6:1188:12021:1929,LH00166:156:2373MLLT3:6:1198:23588:29407,LH00166:156:2373MLLT3:6:1227:46343:20515,LH00166:156:2373MLLT3:6:1261:45945:12167,LH00166:156:2373MLLT3:6:1279:13223:26443,LH00166:156:2373MLLT3:6:2220:14388:18528,LH00166:156:2373MLLT3:7:1110:33833:12937,LH00166:156:2373MLLT3:7:1181:24374:28879,LH00166:156:2373MLLT3:7:1213:29783:20499,LH00166:156:2373MLLT3:7:1283:47591:20179,LH00166:156:2373MLLT3:7:2174:18447:1657,LH00166:156:2373MLLT3:7:2180:39131:29103,LH00166:156:2373MLLT3:7:2225:29728:6175,LH00166:156:2373MLLT3:7:2285:29691:17839,LH00166:156:2373MLLT3:8:1159:13362:9860,LH00166:156:2373MLLT3:8:1249:31420:15548,LH00166:156:2373MLLT3:8:1250:46093:24857,LH00166:156:2373MLLT3:8:1292:34970:21156,LH00166:156:2373MLLT3:8:2118:38512:26459,LH00166:156:2373MLLT3:8:2140:19317:14891,LH00166:156:2373MLLT3:8:2164:14860:9764,LH00166:156:2373MLLT3:8:2171:27120:21108,LH00166:156:2373MLLT3:8:2179:4846:20771,LH00166:156:2373MLLT3:8:2189:48645:12712,LH00166:156:2373MLLT3:8:2281:45335:11559 |
| NCOR2 | NCOR2 | -/- | -/- | chr12:124402513 | chr12:124402515 | CDS | CDS | duplication/ITD | 50 | 1 | 0 | 492 | 406 | medium | in-frame | . | G-protein_pathway_suppressor_2-interacting_domain(100%)|Myb-like_DNA-binding_domain(100%) | . | . | ENSG00000196498.13 | ENSG00000196498.13 | ENST00000458234.5 | ENST00000458234.5 | upstream | downstream | duplicates(20),low_entropy(46) | TCTATTACTACCTGACTAAGAAGAATGAGAACTATAAGAGCCTGGTGAGACGGAGCTATCGGCGCCGCGGCAAGAGCCAG___CAGCAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC|AGCCCATGCCCCGCAGCAGCCAGGAGGAGAAAGATGAGAAGGAGAAGGAAAAGGAGGCGGAGAAGGAGG | YYYLTKKNENYKSLVRRSYRRRGKSQQQQQQQQQQQQQQQQQ|qPMPRSSQEEKDEKEKEKEAEKE | LH00166:156:2373MLLT3:1:1109:37115:8755,LH00166:156:2373MLLT3:1:1114:13418:4220,LH00166:156:2373MLLT3:1:1132:1416:19249,LH00166:156:2373MLLT3:1:1154:1481:24745,LH00166:156:2373MLLT3:1:1156:5512:27821,LH00166:156:2373MLLT3:1:1174:46731:25963,LH00166:156:2373MLLT3:1:1216:16349:25065,LH00166:156:2373MLLT3:1:1251:23255:9572,LH00166:156:2373MLLT3:1:1266:7833:20050,LH00166:156:2373MLLT3:1:2133:32252:25866,LH00166:156:2373MLLT3:1:2225:27120:9027,LH00166:156:2373MLLT3:1:2231:28285:6079,LH00166:156:2373MLLT3:1:2257:2683:13209,LH00166:156:2373MLLT3:2:1126:10496:17166,LH00166:156:2373MLLT3:2:1143:27435:6592,LH00166:156:2373MLLT3:2:1180:1684:14779,LH00166:156:2373MLLT3:2:1195:18900:21829,LH00166:156:2373MLLT3:2:1203:15017:19041,LH00166:156:2373MLLT3:2:1220:30430:1336,LH00166:156:2373MLLT3:2:1237:46620:12985,LH00166:156:2373MLLT3:2:1258:8212:28462,LH00166:156:2373MLLT3:2:1281:42136:29504,LH00166:156:2373MLLT3:2:2111:10597:11318,LH00166:156:2373MLLT3:2:2169:36145:13802,LH00166:156:2373MLLT3:2:2263:31374:5951,LH00166:156:2373MLLT3:3:1115:42191:16974,LH00166:156:2373MLLT3:3:1117:12225:3147,LH00166:156:2373MLLT3:3:1120:28655:21524,LH00166:156:2373MLLT3:3:1150:11171:26475,LH00166:156:2373MLLT3:3:1150:25844:13642,LH00166:156:2373MLLT3:3:1176:42386:22534,LH00166:156:2373MLLT3:3:1283:32825:25610,LH00166:156:2373MLLT3:3:1293:20953:6351,LH00166:156:2373MLLT3:3:2137:49570:2073,LH00166:156:2373MLLT3:3:2155:22950:17727,LH00166:156:2373MLLT3:3:2211:11735:1529,LH00166:156:2373MLLT3:3:2287:33389:29632,LH00166:156:2373MLLT3:4:1104:1277:4204,LH00166:156:2373MLLT3:4:1118:11125:14475,LH00166:156:2373MLLT3:4:1148:48479:21140,LH00166:156:2373MLLT3:4:1230:42349:24168,LH00166:156:2373MLLT3:4:1233:35238:3035,LH00166:156:2373MLLT3:4:1240:4338:28029,LH00166:156:2373MLLT3:4:1273:4181:19554,LH00166:156:2373MLLT3:4:1285:38558:2250,LH00166:156:2373MLLT3:4:2112:19067:26411,LH00166:156:2373MLLT3:4:2124:10274:23511,LH00166:156:2373MLLT3:4:2127:23986:1609,LH00166:156:2373MLLT3:4:2161:23561:3307,LH00166:156:2373MLLT3:4:2191:10671:11190,LH00166:156:2373MLLT3:4:2213:22562:13177,LH00166:156:2373MLLT3:4:2235:3589:16830,LH00166:156:2373MLLT3:4:2275:47878:22630,LH00166:156:2373MLLT3:4:2290:39908:19137,LH00166:156:2373MLLT3:4:2293:40943:24585,LH00166:156:2373MLLT3:5:1102:11476:24441,LH00166:156:2373MLLT3:5:1113:47166:7713,LH00166:156:2373MLLT3:5:1121:47878:7056,LH00166:156:2373MLLT3:5:1144:31891:6880,LH00166:156:2373MLLT3:5:1155:45113:12776,LH00166:156:2373MLLT3:5:1182:28997:11607,LH00166:156:2373MLLT3:5:1211:26223:26828,LH00166:156:2373MLLT3:5:1239:8295:23287,LH00166:156:2373MLLT3:5:1255:19594:26235,LH00166:156:2373MLLT3:5:1262:5799:16461,LH00166:156:2373MLLT3:5:1278:10958:17775,LH00166:156:2373MLLT3:5:2104:14527:9155,LH00166:156:2373MLLT3:5:2169:6927:16942,LH00166:156:2373MLLT3:5:2182:27490:16301,LH00166:156:2373MLLT3:5:2218:7028:2891,LH00166:156:2373MLLT3:5:2249:21092:9860,LH00166:156:2373MLLT3:5:2261:28498:28590,LH00166:156:2373MLLT3:5:2267:50994:19217,LH00166:156:2373MLLT3:5:2291:32178:6255,LH00166:156:2373MLLT3:5:2297:31401:12600,LH00166:156:2373MLLT3:6:1106:45122:20996,LH00166:156:2373MLLT3:6:1109:37023:5775,LH00166:156:2373MLLT3:6:1135:23755:24601,LH00166:156:2373MLLT3:6:1187:34785:26315,LH00166:156:2373MLLT3:6:1256:23006:14747,LH00166:156:2373MLLT3:6:1275:2711:13129,LH00166:156:2373MLLT3:6:1289:19501:21268,LH00166:156:2373MLLT3:6:2124:19622:13113,LH00166:156:2373MLLT3:6:2125:3099:25242,LH00166:156:2373MLLT3:6:2164:38687:17343,LH00166:156:2373MLLT3:6:2172:39159:11174,LH00166:156:2373MLLT3:6:2186:12326:8867,LH00166:156:2373MLLT3:6:2247:25798:15805,LH00166:156:2373MLLT3:6:2272:2942:7409,LH00166:156:2373MLLT3:6:2285:33297:17455,LH00166:156:2373MLLT3:7:1110:21360:9428,LH00166:156:2373MLLT3:7:1112:1952:22037,LH00166:156:2373MLLT3:7:1131:34064:9332,LH00166:156:2373MLLT3:7:1131:34554:28799,LH00166:156:2373MLLT3:7:1156:31882:13818,LH00166:156:2373MLLT3:7:1184:14777:12344,LH00166:156:2373MLLT3:7:1184:14795:12344,LH00166:156:2373MLLT3:7:1224:25854:22694,LH00166:156:2373MLLT3:7:1293:30504:26203,LH00166:156:2373MLLT3:7:1298:44716:11543,LH00166:156:2373MLLT3:7:2107:32594:10437,LH00166:156:2373MLLT3:7:2145:16173:9924,LH00166:156:2373MLLT3:7:2145:50115:24232,LH00166:156:2373MLLT3:7:2184:35174:5134,LH00166:156:2373MLLT3:7:2241:39954:28478,LH00166:156:2373MLLT3:7:2243:36829:22101,LH00166:156:2373MLLT3:7:2252:48895:19394,LH00166:156:2373MLLT3:8:1173:30181:12376,LH00166:156:2373MLLT3:8:1187:36847:19570,LH00166:156:2373MLLT3:8:1193:42312:2762,LH00166:156:2373MLLT3:8:1247:30079:6976,LH00166:156:2373MLLT3:8:1281:19455:19970,LH00166:156:2373MLLT3:8:1294:22137:28078,LH00166:156:2373MLLT3:8:2135:3469:11687,LH00166:156:2373MLLT3:8:2155:39871:1705,LH00166:156:2373MLLT3:8:2213:6797:20082,LH00166:156:2373MLLT3:7:2104:26760:1609 |
| ZNF814 | ZNF814 | -/- | -/- | chr19:57874500 | chr19:57874583 | CDS | CDS | duplication/ITD | 11 | 5 | 0 | 47 | 48 | medium | in-frame | . | KRAB_box(96%),Zinc_finger__C2H2_type(9%)|KRAB_box(3%),Zinc_finger__C2H2_type(95%) | . | . | ENSG00000204514.10 | ENSG00000204514.10 | ENST00000435989.7 | ENST00000435989.7 | upstream | downstream | duplicates(20) | GAAGAGTGTTATGTGTGCTGTGAATGTGGGAAGTCCTTTAGCAAATATGCTAGCTTGAGTAATCATCAGAGAGTTCACACTGAAAAAAAACATGAATGTGGAGAATGTGGGAAATCCTTTAGCAAATATGTTAGCTTCAGTAATCATCAGAGAGTTCACACTGAAAAAAAACATtA|TGAATGTGGAGAATGTGGGAAATCCTTTAGCAAATATGTTAGCTTCAGTAATCATCAGAGAGTTCACACTGAAAAAAAACAT | EECYVCCECGKSFSKYASLSNHQRVHTEKKHECGECGKSFSKYVSFSNHQRVHTEKKHy|ECGECGKSFSKYVSFSNHQRVHTEKK | LH00166:156:2373MLLT3:1:1109:20500:2714,LH00166:156:2373MLLT3:1:2165:9793:2490,LH00166:156:2373MLLT3:1:2165:9793:2490,LH00166:156:2373MLLT3:1:2165:9793:2490,LH00166:156:2373MLLT3:2:1137:50236:4188,LH00166:156:2373MLLT3:6:1194:6298:10117,LH00166:156:2373MLLT3:6:2106:25872:23367,LH00166:156:2373MLLT3:7:1240:7666:12007,LH00166:156:2373MLLT3:7:1240:7666:12007,LH00166:156:2373MLLT3:7:1240:7666:12007,LH00166:156:2373MLLT3:7:1273:26639:14218,LH00166:156:2373MLLT3:7:2130:40324:16461,LH00166:156:2373MLLT3:7:2130:40324:16461,LH00166:156:2373MLLT3:7:2130:40324:16461,LH00166:156:2373MLLT3:7:2245:9285:20579,LH00166:156:2373MLLT3:1:1109:20500:2714,LH00166:156:2373MLLT3:1:2165:9793:2490,LH00166:156:2373MLLT3:2:1137:50236:4188,LH00166:156:2373MLLT3:6:2106:25872:23367,LH00166:156:2373MLLT3:6:2119:34258:8771,LH00166:156:2373MLLT3:6:2119:34258:8771,LH00166:156:2373MLLT3:7:2133:21240:2330,LH00166:156:2373MLLT3:7:2245:9285:20579,LH00166:156:2373MLLT3:8:1291:18429:3515,LH00166:156:2373MLLT3:6:2119:34258:8771,LH00166:156:2373MLLT3:1:2264:44928:3580,LH00166:156:2373MLLT3:2:1169:35571:18064,LH00166:156:2373MLLT3:6:1112:27601:7681,LH00166:156:2373MLLT3:7:1273:26639:14218,LH00166:156:2373MLLT3:7:1273:26639:14218,LH00166:156:2373MLLT3:8:2196:25955:12488,LH00166:156:2373MLLT3:1:2264:44928:3580,LH00166:156:2373MLLT3:2:1169:35571:18064,LH00166:156:2373MLLT3:6:1112:27601:7681,LH00166:156:2373MLLT3:7:1273:26639:14218,LH00166:156:2373MLLT3:8:2196:25955:12488 |
| CD74 | ROS1 | -/- | -/- | chr5:150404680 | chr6:117324415 | CDS/splice-site | CDS/splice-site | translocation | 10 | 4 | 1 | 3527 | 16 | medium | in-frame | . | CLIP__MHC2_interacting(100%),Class_II_MHC-associated_invariant_chain_trimerisation_domain(100%)|Protein_kinase_domain(100%) | . | . | ENSG00000019582.16 | ENSG00000047936.11 | ENST00000009530.12 | ENST00000368507.8 | upstream | downstream | duplicates(4) | ACCTGAGACACCTTAAGAACACCATGGAGACCATAGACTGGAAG___GTCTTTGAGAGCTGGATGCACCATTGGCTCCTGTTTGAAATGAGCAGGCACTCCTTGGAGCAAAAGCCCACTGACGCTCCACCGAAAG|ATGATTTTTGGATACCAGAAACAAGTTTCATACTTACTATTATAGTTGGAATATTTCTGGTTGTTACAATCCCACTGACCTTTG...GTCTGGCATAGAAGATTAAAGAATCAAAAAAGTGCCAAGGAAGGGGTGACAGTGCTTATAAACGAAGACAAAGAGTTGGCTGAGCTGCGAGGTCTGGCAGCCGGAGTAGGCCTGGCTAATGCCTGCTATGCAATACA___TACTCTTCCAACCC | LRHLKNTMETIDWKVFESWMHHWLLFEMSRHSLEQKPTDAPPK|dDFWIPETSFILTIIVGIFLVVTIPLTF | LH00166:156:2373MLLT3:1:1242:5956:14298,LH00166:156:2373MLLT3:2:1188:15674:16333,LH00166:156:2373MLLT3:2:2163:33824:5102,LH00166:156:2373MLLT3:4:1286:35525:28110,LH00166:156:2373MLLT3:4:2146:14102:23415,LH00166:156:2373MLLT3:4:2173:24504:10325,LH00166:156:2373MLLT3:6:1293:12770:12872,LH00166:156:2373MLLT3:6:2227:48266:12280,LH00166:156:2373MLLT3:7:1123:16644:14106,LH00166:156:2373MLLT3:7:2290:14102:27228,LH00166:156:2373MLLT3:8:1125:3349:24360,LH00166:156:2373MLLT3:1:1274:39935:16590,LH00166:156:2373MLLT3:3:1104:22534:14379,LH00166:156:2373MLLT3:3:1119:42497:10581,LH00166:156:2373MLLT3:7:2166:2757:24008,LH00166:156:2373MLLT3:7:2283:26908:22181,LH00166:156:2373MLLT3:3:1165:42524:4637,LH00166:156:2373MLLT3:3:1165:42534:4685,LH00166:156:2373MLLT3:5:2221:27786:9828 |
| EML4 | ALK | +/+ | -/- | chr2:42295516 | chr2:29223528 | CDS/splice-site | CDS/splice-site | inversion | 0 | 3 | 0 | 88 | 17 | medium | in-frame | . | HELP_motif(100%),WD_domain__G-beta_repeat(25%)|Protein_kinase_domain(100%) | . | . | ENSG00000143924.19 | ENSG00000171094.18 | ENST00000318522.10 | ENST00000389048.8 | downstream | downstream | duplicates(1) | CTTACTGGAGACTCAGGTGGAGTCATGCTTATATGGAGCAAAACTACTGTAGAGCCCACACCTGGGAAAGGACCTAAAG|TGTACCGCCGGAAGCACCAGGAGCTGCAAGCCATGCAGATGGAGCTGCAGAGCCCTGAGTACAAGCTGAGCAAGCTCCGCACCTCGACCATCATGACCGACTACAACCCCAACTACTGaTTTGCTGGCAAGACCTCCTCCATCAGTGACCTGAAGGAGGTGCCGCGGAAAAACATCACCC | LTGDSGGVMLIWSKTTVEPTPGKGPK|vYRRKHQELQAMQMELQSPEYKLSKLRTSTIMTDYNPNY* | LH00166:156:2373MLLT3:1:1212:34526:23399,LH00166:156:2373MLLT3:1:2142:30717:8114,LH00166:156:2373MLLT3:2:1252:4745:20211,LH00166:156:2373MLLT3:3:1292:38364:5951 |
| SLC34A2 | ROS1 | +/+ | -/- | chr4:25664330 | chr6:117324415 | CDS/splice-site | CDS/splice-site | translocation | 0 | 2 | 0 | 4 | 16 | medium | in-frame | . | Na+/Pi-cotransporter(8%)|Protein_kinase_domain(100%) | . | . | ENSG00000157765.13 | ENSG00000047936.11 | ENST00000645788.1 | ENST00000368507.8 | downstream | downstream | mismatches(1) | GGAAGATTCTCTGTTTCTTCCAAGGGATTGGGAGATTGATTTTACTTCTCGGATTTCTCTACTTTTTCGTGTGCTCCCTGGATATTCTTAGTAGCGCCTTCCAGCTGGTTGGAG|ATGATTTTTGGATACCAGAAACAAGTTTCATACTTACTATTATAGTTGGAATATTTCTGGTTGTTACAATCCCACTGACCTTTG___TCTGGCATAGAAGATTAAAGAATCAAAAAAGTGCCAAGGAAGGGGTGACAGTGCTTATAAACGAAGACAAAGAGTTGGCTGAGCTGCGAGGTCTGGCAGCCGGAGTAGGCCTGG | KILCFFQGIGRLILLLGFLYFFVCSLDILSSAFQLVG|dDFWIPETSFILTIIVGIFLVVTIPLTFVWHRRLKNQKSAKEGVTVLINEDKELAELRGLAAGVGL | LH00166:156:2373MLLT3:4:1218:12382:4957,LH00166:156:2373MLLT3:7:1224:20361:6319,LH00166:156:2373MLLT3:8:1168:6575:6976 |
| AL672310.1(1405),RPL23AP47(5577) | SEPTIN14 | ./+ | -/- | chr6:170739941 | chr7:55796092 | intergenic | CDS/splice-site | translocation | 0 | 2 | 0 | 0 | 67 | medium | . | . | . | . | . | . | ENSG00000154997.9 | . | ENST00000388975.4 | downstream | downstream | . | CCAGAGTTTCGTTGTCCTTAAGACTGACCTGGGGAGACGTGGCTGCAGGCCATTGAGGAAG|CTGCAGGACAAGTTCGAGCATCTTAAAATGATTCAACAGGAGGAGATAAGGAAGCTCGAGGAAGAGAAAAAACAACTGGAAGGAGAAATCATAGATTTTTATAAAATGAAAGCTGCCTCtGAAGCACTGCAGACTCAGCTGAGCACC | . | LH00166:156:2373MLLT3:1:2140:46343:26187,LH00166:156:2373MLLT3:4:1295:27296:2762 |
| STX16 | NPEPL1 | +/+ | +/+ | chr20:58673711 | chr20:58691724 | CDS/splice-site | 5'UTR/splice-site | deletion/read-through | 3 | 5 | 0 | 74 | 30 | low | out-of-frame | . | SNARE_domain(49%),Syntaxin(100%)|Cytosol_aminopeptidase_family__catalytic_domain(100%),M17_aminopeptidase_N-terminal_domain_2(100%) | . | . | ENSG00000124222.22 | ENSG00000215440.12 | ENST00000361830.7 | ENST00000525967.5 | downstream | upstream | duplicates(1) | GGGAACGTGGTGGCCTCGCTGGCGCAGGCCCTGCAGGAACTCTCCACCAGCTTCCGGCACGCACAaTCAGGCTACCTCAAAC___GCATGAAGAATCGAGAGGAAAGATCCCAGCATTTTTTCGACACATCAGTACCACTAATGGATGATGGAGACGATAACACTCTTTACCATCGG___GGTTTTACAGAGGACCAGTTAGTTCTGGTGGAGCAGAACACACTGATGGTGGAAGAGCGGGAACGAGAGATTCGCCAGATTGTACAGTCCATTTCTGACCTGAATGAAATATTCAGGGACTTAGGGGCGATGATTGTAGAACAG___GGTACAGTCCTTGACAGAATTGACTATAACGTTGAACAGTCCTGTATCAAAACTGAAGATGGTTTGAAACAGCTTCACAAG|GtTGGTTATGAAGAAGAAACTCAAAATAACAGGAGTGGCTTATGGAACTACATGGAGGTAACAGAGGAGGGTACCAACCAAAGGCCCTTGAGCAATCAGGATGTTGGGTAACAGATTTTTGCTTTTAAATGACTCC | GNVVASLAQALQELSTSFRHAQSGYLKRMKNREERSQHFFDTSVPLMDDGDDNTLYHRGFTEDQLVLVEQNTLMVEEREREIRQIVQSISDLNEIFRDLGAMIVEQGTVLDRIDYNVEQSCIKTEDGLKQLHK|vgyeeetqnnrsglwnymevteegtnqrplsnqdvg* | LH00166:156:2373MLLT3:3:2155:34804:10357,LH00166:156:2373MLLT3:7:2204:17865:27853,LH00166:156:2373MLLT3:7:2255:30652:1881,LH00166:156:2373MLLT3:2:2162:28193:11783,LH00166:156:2373MLLT3:3:1107:12955:22838,LH00166:156:2373MLLT3:4:1221:15877:21781,LH00166:156:2373MLLT3:6:1148:11263:6255,LH00166:156:2373MLLT3:7:1234:7731:16221,LH00166:156:2373MLLT3:8:2207:35913:18208 |
| STX16 | NPEPL1 | +/+ | +/+ | chr20:58673711 | chr20:58693737 | CDS/splice-site | CDS/splice-site | deletion/read-through | 0 | 0 | 0 | 74 | 72 | low | in-frame | . | SNARE_domain(49%),Syntaxin(100%)|Cytosol_aminopeptidase_family__catalytic_domain(100%),M17_aminopeptidase_N-terminal_domain_2(74%) | . | . | ENSG00000124222.22 | ENSG00000215440.12 | ENST00000361830.7 | ENST00000525967.5 | downstream | upstream | low_entropy(1) | CAGCTTCACAAG|CTCTGGCAGGCTGCCCTGAGCACGCTCAACCCCAACCCCACGGACAGCTGTCCCCTCTACCTGAACTACGCCACCGTGGCTGCCCTGCCCTGCAGGGTGAGCCGGCACAACAGCCCCTCGGCCGCCCACTTCATCACGCGGCTGGTGCGGACCTGCCTGCCGCCCGaAGC | QLHK|LWQAALSTLNPNPTDSCPLYLNYATVAALPCRVSRHNSPSAAHFITRLVRTCLPPe | LH00166:156:2373MLLT3:7:1245:34009:15644 |
| TMED7 | TICAM2 | -/- | -/- | chr5:115616318 | chr5:115581315 | CDS | 5'UTR/splice-site | deletion/read-through | 0 | 2 | 0 | 59 | 5 | low | stop-codon | . | emp24/gp25L/p24_family/GOLD(86%)|TIR_domain(100%) | . | . | ENSG00000134970.14 | ENSG00000243414.6 | ENST00000456936.4 | ENST00000427199.3 | upstream | downstream | mismappers(1) | TCTGCCTGTGTTTCAATTCACGAAGCTCTGAAGTCTGTCATCGATTATCAGACTCATTTCCGTTTAAGAGAAGCTCAAGGCCGAAGCCGAGCAGAGGATCTAAATACAAGAGTGGCCTATTG|ATTGAAAAGAAATGCTGAGAAATACATAAAGTTTTCCTCTTCTGCCTTGGATATTTATAATGGGTATCGGGAAGTCTAAAATAAATTCCTGCCCTCTTTCTCTCTCTTGGGGTAAAAGGCACAGTGTGGATACAAGTCCAGGATATCATGAGTCAGATTCCAAGAAGTCTGAAGATCTATCCTTGTGTAATGTTGCTGAGCACAGCAATACAACAGAG | . | LH00166:156:2373MLLT3:3:1185:36394:24809,LH00166:156:2373MLLT3:7:2291:23144:12712,LH00166:156:2373MLLT3:3:1196:49977:21044 |
| SOGA3 | KIAA0408 | -/- | -/- | chr6:127473080 | chr6:127454101 | 3'UTR | 5'UTR/splice-site | deletion/read-through | 1 | 1 | 0 | 3 | 2 | low | . | . | Protein_SOGA_(100%)|Domain_of_unknown_function_(DUF4482)(100%) | . | . | ENSG00000214338.10 | ENSG00000189367.15 | ENST00000525778.5 | ENST00000483725.8 | upstream | downstream | . | TTTCATCACTTTCTTACACAACAATATTTAAACTTGTCTTCCTTTTTACACTGTTTTTTGTACTGTAAATCTTTCATCATTTACCATTCATTGTAGTATTTTCAGTTTGTTTATTTTGTTCACCCTTCAAGACAAGAAGTAAAAGAAGTA...TGCTATAAAAACACTGAAGACTGCTTATTTCTTTAAAAAGATACAACTCATCTTACCAAGACCAAATTCAATAAGAAGCCCAAACACTAAAATATTTCAG|GCTTTATTTTAAAGGCAAGTGAGACTGCTTCAAATAAAACAACTTCAAGCTTCCAAGAAACAGTTAAGAGGAGGCAGAGAAGAGCAGAAACACTTCTTTGCTGACACTTACACTGTTGCCATGGACCTACATAAGCAGTGGGAGAACACAGAGACTAACTGGCATAAGGAAAAGATGGAATTACTGGACCAGTTTGACAATGAAAGAAAGGAATGG | . | LH00166:156:2373MLLT3:4:2162:50504:17535,LH00166:156:2373MLLT3:5:2183:47055:13449 |
| TMPRSS2 | ERG | -/- | -/- | chr21:41508081 | chr21:38584945 | 5'UTR/splice-site | 5'UTR/splice-site | deletion | 0 | 1 | 0 | 0 | 6 | low | . | . | |Ets-domain(100%),Sterile_alpha_motif_(SAM)/Pointed_domain(100%) | . | . | ENSG00000184012.14 | ENSG00000157554.19 | ENST00000332149.10 | ENST00000442448.5 | upstream | downstream | . | GCCGCCTGGAGCGCGGCAG|GTTATTCCAGGATCTTTGGAGACCCGAGGAAAGCCGTGTTGACCAAAAGCAAGACAAATGACTCACAGAGAAAAAAGATGGCAGAACCAAGGGCAACTAAAG___CCGTCAGGTTCTGAACAGCTGGTAGATGGGCTGGCTTACTGAAGGACATGATTCAGACTGTCCCGGACCCAGCAGCTCATATCAAGG | . | LH00166:156:2373MLLT3:8:1156:37494:17968 |
26 rows