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SkinN_FFPE_L04_RNA_01_B23LG7FLT4_1.arriba.fusions.tsv
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s3://natera-platform-sandbox/pipeline-outputs/cgp_runs/nextflow/dev_rna_exp0011/B23LG7FLT4/nfcore_rnafusion_100M__5f1fa793--20260303-130000/arriba/SkinN_FFPE_L04_RNA_01_B23LG7FLT4_1.arriba.fusions.tsv
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7.3 KB
Published
Mar 03, 2026 4:53 PM
#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
PTMS RAMP3(65695),AC073968.2(16684) +/+ ./+ 12:6769999 7:45251997 CDS/splice-site intergenic translocation 5 0 0 17383 112 medium out-of-frame . Prothymosin/parathymosin_family(66%)| . . ENSG00000159335 . ENST00000309083 . downstream upstream duplicates(9) GGgGAAGGCAAGCCGGAAAGAGCGAAAGAAAGAAGTGGTGGAG___GAGGAGGAGAACGGGGCTGAGGAGGAAGAAGAAGAAACTGCCGAGGATGGAGAGGAGGAAGATGAAGGGGAAGAAGAAG|ATAAGGAAAGGTTAAAAAAAGTAAAAGGAACTCGG gKASRKERKKEVVEEEENGAEEEEEETAEDGEEEDEGEEE|dkerlkkvkgt LH00166:238:23LG7FLT4:5:1181:21128:21906,LH00166:238:23LG7FLT4:5:1370:24744:18473,LH00166:238:23LG7FLT4:5:2249:11598:5036,LH00166:238:23LG7FLT4:5:2485:43117:22943,LH00166:238:23LG7FLT4:6:2451:12520:4083,LH00166:238:23LG7FLT4:7:1315:10190:22887,LH00166:238:23LG7FLT4:7:1388:12245:18235,LH00166:238:23LG7FLT4:7:1422:51134:23938,LH00166:238:23LG7FLT4:7:1478:24364:10108,LH00166:238:23LG7FLT4:7:2181:29477:14956,LH00166:238:23LG7FLT4:7:2344:26362:27581,LH00166:238:23LG7FLT4:7:2387:25448:29669,LH00166:238:23LG7FLT4:8:1343:44484:13177
MCAT LINC02193 -/- +/+ 22:43141162 16:90222244 CDS/splice-site exon/splice-site translocation 0 2 0 91 8 medium out-of-frame . Acyl_transferase_domain(39%)| . . ENSG00000100294 ENSG00000260923 ENST00000290429 ENST00000665776 upstream upstream duplicates(6) GGAGAGTTTGCAGCCCTAGTGTTTGCCGGAGCCATGGAATTTGCTGAAG|GAACAGTAAGAGGACCTTGTGCATGAATAATTTGTTTCCACAtTGCAGAGTGG___CAGAAGAATCCCAGACTTCTTAGAGAACCCAGTGACTTTTTGCACCTTAAATCTGTG GEFAALVFAGAMEFAE|gtvrgpca* LH00166:238:23LG7FLT4:5:2342:41264:16035,LH00166:238:23LG7FLT4:5:2367:50519:20323,LH00166:238:23LG7FLT4:5:2480:41935:8090,LH00166:238:23LG7FLT4:6:1493:31920:2569,LH00166:238:23LG7FLT4:7:1362:2586:6745,LH00166:238:23LG7FLT4:7:2284:19000:16848,LH00166:238:23LG7FLT4:8:1134:28911:8735,LH00166:238:23LG7FLT4:8:2320:43804:12784
RNF168 RNF168 -/- -/- 3:196487455 3:196487499 CDS CDS duplication/ITD 5 5 0 398 398 low in-frame . Prokaryotic_RING_finger_family_4(100%)| . . ENSG00000163961 ENSG00000163961 ENST00000318037 ENST00000318037 upstream downstream duplicates(28) CGACGGGCCA___...AGAAAACAAAGCCAGTGAAGAATACATACAGAGGTTGTTGGCAGAGGAGGAAGAAGAGGAAAAAAGACAGGCAGAAAAAAGGCGAAGAGCGA|AGGAAGAAGAGGAAAAAAGACAGGCAGAAAAAAGGCGAAGAGCGAT ENKASEEYIQRLLAEEEEEEKRQAEKRRRA|kEEEEKRQAEKRRRA LH00166:238:23LG7FLT4:5:2496:38384:7179,LH00166:238:23LG7FLT4:6:1243:23612:3844,LH00166:238:23LG7FLT4:6:1405:46514:21262,LH00166:238:23LG7FLT4:6:2195:1777:5092,LH00166:238:23LG7FLT4:6:2222:33959:4447,LH00166:238:23LG7FLT4:7:2107:36442:14802,LH00166:238:23LG7FLT4:8:1108:29364:29361,LH00166:238:23LG7FLT4:8:1310:2756:25704,LH00166:238:23LG7FLT4:8:1319:1243:26418,LH00166:238:23LG7FLT4:8:2266:25618:1098,LH00166:238:23LG7FLT4:5:1104:6946:23546,LH00166:238:23LG7FLT4:5:1237:23442:4783,LH00166:238:23LG7FLT4:6:1139:35981:8483,LH00166:238:23LG7FLT4:6:2341:42372:27315,LH00166:238:23LG7FLT4:7:1268:30658:26166,LH00166:238:23LG7FLT4:7:2448:41167:21892,LH00166:238:23LG7FLT4:5:1213:41507:23294,LH00166:238:23LG7FLT4:5:2454:15206:7642,LH00166:238:23LG7FLT4:6:2122:26904:13443,LH00166:238:23LG7FLT4:5:2496:38384:7179,LH00166:238:23LG7FLT4:6:1243:23612:3844,LH00166:238:23LG7FLT4:6:1405:46514:21262,LH00166:238:23LG7FLT4:6:2195:1777:5092,LH00166:238:23LG7FLT4:6:2222:33959:4447,LH00166:238:23LG7FLT4:7:2107:36442:14802,LH00166:238:23LG7FLT4:8:1108:29364:29361,LH00166:238:23LG7FLT4:8:1310:2756:25704,LH00166:238:23LG7FLT4:8:1319:1243:26418,LH00166:238:23LG7FLT4:8:2266:25618:1098,LH00166:238:23LG7FLT4:5:1104:6946:23546,LH00166:238:23LG7FLT4:5:1237:23442:4783,LH00166:238:23LG7FLT4:6:1139:35981:8483,LH00166:238:23LG7FLT4:6:2341:42372:27315,LH00166:238:23LG7FLT4:7:1268:30658:26166,LH00166:238:23LG7FLT4:7:2448:41167:21892,LH00166:238:23LG7FLT4:5:1213:41507:23294,LH00166:238:23LG7FLT4:5:2454:15206:7642,LH00166:238:23LG7FLT4:6:2122:26904:13443
WFS1 LINGO2 +/+ -/+ 4:6301313 9:28355293 CDS intron translocation/5'-5' 3 0 0 900 0 low out-of-frame . . . . ENSG00000109501 ENSG00000174482 ENST00000226760 . downstream upstream duplicates(3),mismatches(1) ATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTG|CTCTATGTCTCTCTCTCTCTCTCTCTCTCTC SLLPSMPLNWPYLKVLGQTFITVPVGHLVVLNVSVPCL|lyvslslsls LH00166:238:23LG7FLT4:5:1366:36248:11299,LH00166:238:23LG7FLT4:6:1137:11007:25367,LH00166:238:23LG7FLT4:6:1315:41377:13933,LH00166:238:23LG7FLT4:6:1315:41385:13947,LH00166:238:23LG7FLT4:8:1108:41183:12672,LH00166:238:23LG7FLT4:8:1249:31354:21066,LH00166:238:23LG7FLT4:8:1336:32041:9870
ADPGK NEO1 -/- +/+ 15:72771783 15:73116540 CDS/splice-site CDS/splice-site inversion 0 2 0 113 623 low out-of-frame . ADP-specific_Phosphofructokinase/Glucokinase_conserved_region(24%)|Fibronectin_type_III_domain(100%),Immunoglobulin_I-set_domain(100%),Immunoglobulin_domain(100%),Neogenin_C-terminus(100%) . . ENSG00000159322 ENSG00000067141 ENST00000311669 ENST00000339362 upstream upstream duplicates(5) CAGAAATTTGCAGCCAACTCAGATTTAAAG|GAGCCAGCATTCGAACGTTCACTCCATTTTATTTTCTGGTGGAGCCGGTGGATACACTCTCAGTTAGAGGCTCTTCTGTTATATTAAACTGTTCAGCATATTCTGAGC QKFAANSDLK|epaferslhfifwwsrwihsqleallly* LH00166:238:23LG7FLT4:5:1334:30092:2289,LH00166:238:23LG7FLT4:5:2179:43392:8539,LH00166:238:23LG7FLT4:6:1164:37073:8609,LH00166:238:23LG7FLT4:7:1278:42202:29599,LH00166:238:23LG7FLT4:7:2350:45455:2079,LH00166:238:23LG7FLT4:8:1492:29161:19426,LH00166:238:23LG7FLT4:8:2205:18879:19468
SBNO2 GNA11 -/- +/+ 19:1147309 19:3110149 CDS/splice-site CDS/splice-site inversion 1 0 0 1816 598 low out-of-frame . |G-protein_alpha_subunit(91%) . . ENSG00000064932 ENSG00000088256 ENST00000361757 ENST00000078429 upstream upstream duplicates(3) GCTATGCCCCCGTGGCCACCGCCTCCAGCTTGCCACCAAAGACCTGCGACTTTGCTCAG|GCACGGGCGAGAGCGGGAAGAGCACGTTCA YAPVATASSLPPKTCDFAQ|araragrar LH00166:238:23LG7FLT4:6:1490:11355:11145,LH00166:238:23LG7FLT4:6:2281:49435:1378,LH00166:238:23LG7FLT4:7:1320:24332:15741,LH00166:238:23LG7FLT4:7:1489:22309:15461
SBNO2 GNA11 -/- +/+ 19:1174172 19:3110149 5'UTR/splice-site CDS/splice-site inversion 0 1 0 98 598 low . . |G-protein_alpha_subunit(91%) . . ENSG00000064932 ENSG00000088256 ENST00000361757 ENST00000078429 upstream upstream duplicates(6) GAAACAGGCGCCGCGGGCTCCGCGCCCGGCCGGACCCGGGCCCGAG|GCACGGGCGAGAGCGGGAAGAGCACGTTCATCAAGCAGATGCGCATCATCCACGGCGCCGGCTACTCGGAGGAGGACAAGCGCGGCTTCACCAAGCTCGTCTACCAGAACATCTTCA . LH00166:238:23LG7FLT4:5:1268:43869:3004,LH00166:238:23LG7FLT4:5:2178:23086:27932,LH00166:238:23LG7FLT4:6:1203:6841:13023,LH00166:238:23LG7FLT4:6:1223:49726:13849,LH00166:238:23LG7FLT4:8:1157:45778:7151,LH00166:238:23LG7FLT4:8:1358:21112:1364,LH00166:238:23LG7FLT4:8:2460:45908:16736
LINC00486 AKT2 +/+ -/- 2:32916559 19:40256964 intron CDS/splice-site translocation 0 0 0 65535 3871 low . . |PH_domain(60%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) . . ENSG00000230876 ENSG00000105221 . ENST00000424901 downstream downstream inconsistently_clipped(1) GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGAGG|ATCAGACTCTACCCCCCTTAAACAACTTCTCCGTAGCAG___AATGCCAGCTGATGAAGACCGAGAGGCCGCGACCCAACACCTTTGTCATACGCTGCCTGCAGTGGACCACAGTCATCG . LH00166:238:23LG7FLT4:5:1198:12472:19608
9 rows