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Filename
rna_s1200_S21.arriba.fusions.filtered_pass_only.tsv
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s3://natera-rnd-pltf-dev-s3-gitlab-results/rnafusion/build2803241/baseline-run/63723170/arriba/rna_s1200_S21.arriba.fusions.filtered_pass_only.tsv
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12.5 KB
Published
Jun 05, 2026 5:11 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 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 21 24 1 75 141 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(5),mismatches(1) CTGTGGAGGAGCTCTTCAAGCTGCTGAAGGAGGGCCACCGCATGGACAAGCCCGCCAACTGCACACACGACCT___GTACATGATCATGCGGGAGTGCTGGCATGCCGCGCCCTCCCAGAGGCCCACCTTCAAGCAGCTGGTGGAGGACCTGGACCGTGTCCTTACCGTGACGTCCACCGAC|GTAAAGGCGACACAGGAGGAGAACCGGGAGCTGAGGAGCAGGTGTGAGGAGCTCCACGGGAAGAACCTGGAACTGGG___GAAGATCATGGACAGGTTCGAAGAGGTTGTGTACCAGGCCATGG___AGGAAGTTCAGAAGCAGAAGGAACTTTCCAAAGCTGAAATCCAGAA VEELFKLLKEGHRMDKPANCTHDLYMIMRECWHAAPSQRPTFKQLVEDLDRVLTVTSTD|VKATQEENRELRSRCEELHGKNLELGKIMDRFEEVVYQAMEEVQKQKELSKAEIQ SYNTHESIZER:1:REGRESSION:1:1101:34880460:34890460,SYNTHESIZER:1:REGRESSION:1:1101:41244120:41254120,SYNTHESIZER:1:REGRESSION:1:1101:41260000:41270000,SYNTHESIZER:1:REGRESSION:1:1101:49350600:49360600,SYNTHESIZER:1:REGRESSION:1:1101:49402150:49412150,SYNTHESIZER:1:REGRESSION:1:1101:68040290:68050290,SYNTHESIZER:1:REGRESSION:1:1101:83249940:83259940,SYNTHESIZER:1:REGRESSION:1:1101:97233870:97243870,SYNTHESIZER:1:REGRESSION:2:1101:30722060:30732060,SYNTHESIZER:1:REGRESSION:2:1101:57524010:57534010,SYNTHESIZER:1:REGRESSION:2:1101:61323240:61333240,SYNTHESIZER:1:REGRESSION:2:1101:65879710:65889710,SYNTHESIZER:1:REGRESSION:3:1101:26578090:26588090,SYNTHESIZER:1:REGRESSION:3:1101:33716140:33726140,SYNTHESIZER:1:REGRESSION:3:1101:41854800:41864800,SYNTHESIZER:1:REGRESSION:3:1101:49608860:49618860,SYNTHESIZER:1:REGRESSION:3:1101:61200620:61210620,SYNTHESIZER:1:REGRESSION:3:1101:69111040:69121040,SYNTHESIZER:1:REGRESSION:3:1101:72481000:72491000,SYNTHESIZER:1:REGRESSION:4:1101:13036270:13046270,SYNTHESIZER:1:REGRESSION:4:1101:22353200:22363200,SYNTHESIZER:1:REGRESSION:4:1101:28479970:28489970,SYNTHESIZER:1:REGRESSION:4:1101:52511650:52521650,SYNTHESIZER:1:REGRESSION:4:1101:69995900:70005900,SYNTHESIZER:1:REGRESSION:1:1101:28051130:28061130,SYNTHESIZER:1:REGRESSION:1:1101:50174490:50184490,SYNTHESIZER:1:REGRESSION:1:1101:52961340:52971340,SYNTHESIZER:1:REGRESSION:1:1101:6243410:6253410,SYNTHESIZER:1:REGRESSION:1:1101:80529760:80539760,SYNTHESIZER:1:REGRESSION:1:1101:8425410:8435410,SYNTHESIZER:1:REGRESSION:1:1101:87889880:87899880,SYNTHESIZER:1:REGRESSION:1:1101:99213420:99223420,SYNTHESIZER:1:REGRESSION:2:1101:27149600:27159600,SYNTHESIZER:1:REGRESSION:2:1101:44764460:44774460,SYNTHESIZER:1:REGRESSION:2:1101:54154280:54164280,SYNTHESIZER:1:REGRESSION:2:1101:56369770:56379770,SYNTHESIZER:1:REGRESSION:2:1101:90495290:90505290,SYNTHESIZER:1:REGRESSION:2:1101:9544450:9554450,SYNTHESIZER:1:REGRESSION:3:1101:35280880:35290880,SYNTHESIZER:1:REGRESSION:3:1101:60441500:60451500,SYNTHESIZER:1:REGRESSION:3:1101:65504970:65514970,SYNTHESIZER:1:REGRESSION:3:1101:65791540:65801540,SYNTHESIZER:1:REGRESSION:3:1101:71258560:71268560,SYNTHESIZER:1:REGRESSION:3:1101:87128380:87138380,SYNTHESIZER:1:REGRESSION:3:1101:93427820:93437820,SYNTHESIZER:1:REGRESSION:4:1101:21171910:21181910,SYNTHESIZER:1:REGRESSION:4:1101:4577000:4587000,SYNTHESIZER:1:REGRESSION:4:1101:57509800:57519800,SYNTHESIZER:1:REGRESSION:4:1101:67524780:67534780,SYNTHESIZER:1:REGRESSION:4:1101:79947230:79957230,SYNTHESIZER:1:REGRESSION:4:1101:6194060:6204060,SYNTHESIZER:1:REGRESSION:4:1101:71335440:71345440 chr4:1806934-chr4:1739702 0.22279792746113988 0.14803625377643503 0.18541709061878747 46 False PASS
LMNA NTRK1 +/+ +/+ chr1:156130773 chr1:156874906 CDS/splice-site CDS/splice-site deletion 12 13 0 349 70 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(4),low_entropy(1) GCTCGGCTGAAGGACCTGGAGGCTCTGCTGAACTCCAAGGAGGCCGCACTGAGCACTGCTCTCAGTGAGAAGCGCACGCTGGAGGGCGAGCTGCATGATCTGCGGGGCCAGGTGGCCAAG|GTCTCGGTGGCTGTGGGCCTGGCCGTCTTTGCCTGCCTCTTCCTTTCTACGCTGCTCCTTGTGCTCAACAAATGTGGACGGAGAAACAAGTTTGGGATCAACC___GCCCGGCTGTGCTGGCTCCAGAGGATGGGCTGGCCATGTCCCTGCATTTCATG ARLKDLEALLNSKEAALSTALSEKRTLEGELHDLRGQVAK|VSVAVGLAVFACLFLSTLLLVLNKCGRRNKFGINRPAVLAPEDGLAMSLHF SYNTHESIZER:1:REGRESSION:1:1101:36363320:36373320,SYNTHESIZER:1:REGRESSION:1:1101:51281320:51291320,SYNTHESIZER:1:REGRESSION:1:1101:60878880:60888880,SYNTHESIZER:1:REGRESSION:1:1101:63699200:63709200,SYNTHESIZER:1:REGRESSION:1:1101:74283100:74293100,SYNTHESIZER:1:REGRESSION:1:1101:93263280:93273280,SYNTHESIZER:1:REGRESSION:2:1101:46809580:46819580,SYNTHESIZER:1:REGRESSION:2:1101:49502720:49512720,SYNTHESIZER:1:REGRESSION:3:1101:61339670:61349670,SYNTHESIZER:1:REGRESSION:4:1101:13375770:13385770,SYNTHESIZER:1:REGRESSION:4:1101:22891390:22901390,SYNTHESIZER:1:REGRESSION:4:1101:83123410:83133410,SYNTHESIZER:1:REGRESSION:4:1101:92420240:92430240,SYNTHESIZER:1:REGRESSION:4:1101:96862140:96872140,SYNTHESIZER:1:REGRESSION:1:1101:67566700:67576700,SYNTHESIZER:1:REGRESSION:2:1101:31411120:31421120,SYNTHESIZER:1:REGRESSION:2:1101:48911230:48921230,SYNTHESIZER:1:REGRESSION:2:1101:53244670:53254670,SYNTHESIZER:1:REGRESSION:2:1101:58614140:58624140,SYNTHESIZER:1:REGRESSION:2:1101:837380:847380,SYNTHESIZER:1:REGRESSION:2:1101:96068060:96078060,SYNTHESIZER:1:REGRESSION:3:1101:10266310:10276310,SYNTHESIZER:1:REGRESSION:3:1101:28659750:28669750,SYNTHESIZER:1:REGRESSION:3:1101:71272030:71282030,SYNTHESIZER:1:REGRESSION:3:1101:7999190:8009190,SYNTHESIZER:1:REGRESSION:3:1101:86272920:86282920,SYNTHESIZER:1:REGRESSION:3:1101:91269240:91279240,SYNTHESIZER:1:REGRESSION:4:1101:19005640:19015640,SYNTHESIZER:1:REGRESSION:4:1101:46042090:46052090,SYNTHESIZER:1:REGRESSION:4:1101:50758220:50768220 chr1:156130773-chr1:156874906 0.0332409972299169 0.1566265060240964 0.09493375162700665 25 False PASS
FGFR3 BAIAP2L1 +/+ -/- chr4:1806934 chr7:98362432 CDS/splice-site CDS/splice-site translocation 17 2 1 75 11 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(9),mismatches(1) CTGTGGAGGAGCTCTTCAAGCTGCTGAAGGAGGGCCACCGCATGGACAAGCCCGCCAACTGCACACACGACCT___GTACATGATCATGCGGGAGTGCTGGCATGCCGCGCCCTCCCAGAGGCCCACCTTCAAGCAGCTGGTGGAGGACCTGGACCGTGTCCTTACCGTGACGTCCACCGAC|AATGTTATGGAACAGTTCAATCCTGGGCTGCGAAATTTAATAAACCTGGGGAAAAATTATGAGAAAGCTGTAAACG___CTATGATCCTGGCAGGAAAAGCCTACTACGATGGAGTGGCCAAGATCGGTGAGATTGCCACTGGGTCCCCCGT VEELFKLLKEGHRMDKPANCTHDLYMIMRECWHAAPSQRPTFKQLVEDLDRVLTVTSTD|NVMEQFNPGLRNLINLGKNYEKAVNAMILAGKAYYDGVAKIGEIATGSP SYNTHESIZER:1:REGRESSION:1:1101:11271270:11281270,SYNTHESIZER:1:REGRESSION:1:1101:35109030:35119030,SYNTHESIZER:1:REGRESSION:1:1101:38838690:38848690,SYNTHESIZER:1:REGRESSION:1:1101:40392150:40402150,SYNTHESIZER:1:REGRESSION:1:1101:42849500:42859500,SYNTHESIZER:1:REGRESSION:1:1101:46057530:46067530,SYNTHESIZER:1:REGRESSION:1:1101:54511420:54521420,SYNTHESIZER:1:REGRESSION:1:1101:66861940:66871940,SYNTHESIZER:1:REGRESSION:1:1101:84946680:84956680,SYNTHESIZER:1:REGRESSION:2:1101:42089380:42099380,SYNTHESIZER:1:REGRESSION:2:1101:55616890:55626890,SYNTHESIZER:1:REGRESSION:2:1101:56578990:56588990,SYNTHESIZER:1:REGRESSION:2:1101:76883530:76893530,SYNTHESIZER:1:REGRESSION:2:1101:86153140:86163140,SYNTHESIZER:1:REGRESSION:3:1101:15185210:15195210,SYNTHESIZER:1:REGRESSION:3:1101:28128910:28138910,SYNTHESIZER:1:REGRESSION:3:1101:58463390:58473390,SYNTHESIZER:1:REGRESSION:3:1101:74943610:74953610,SYNTHESIZER:1:REGRESSION:3:1101:87706670:87716670,SYNTHESIZER:1:REGRESSION:4:1101:41316680:41326680,SYNTHESIZER:1:REGRESSION:4:1101:4348500:4358500,SYNTHESIZER:1:REGRESSION:4:1101:5140310:5150310,SYNTHESIZER:1:REGRESSION:4:1101:57102750:57112750,SYNTHESIZER:1:REGRESSION:4:1101:8342020:8352020,SYNTHESIZER:1:REGRESSION:4:1101:94707700:94717700,SYNTHESIZER:1:REGRESSION:1:1101:10416680:10426680,SYNTHESIZER:1:REGRESSION:3:1101:39082850:39092850,SYNTHESIZER:1:REGRESSION:2:1101:20960190:20970190,SYNTHESIZER:1:REGRESSION:3:1101:20963300:20973300,SYNTHESIZER:1:REGRESSION:4:1101:60973030:60983030 chr4:1806934-chr7:98362432 0.1891891891891892 0.18518518518518517 0.1871871871871872 20 False PASS
ETV6 NTRK3 +/+ -/- chr12:11869969 chr15:87940753 CDS/splice-site CDS/splice-site translocation 5 6 0 195 11 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) AGGCTCTCCGAGGACGGGCTGCATAGGGAAGGGAAGCCCATCAACCTCTCTCATCGGGAAGACCTGGCTTACATGAACCACATCATGGTCTCTGTCTCCCCGCCTGAAGAGCACGCCATGCCCATTGGGAGAATAGCAG|ATGTGCAGCACATTAAGAGGAGAGACATCGTGCTGAAGCGAGAACTGGGTGAGGGAGCCTTTGGAAAGGTCTTCCTGGCCGAGTGCTACAACCTCAGCCCGACCAAGGACAAGATGCTTGTGGCTGTGAAG___GCCCTGAAGGATCCCACC RLSEDGLHREGKPINLSHREDLAYMNHIMVSVSPPEEHAMPIGRIA|dVQHIKRRDIVLKRELGEGAFGKVFLAECYNLSPTKDKMLVAVKALKDP SYNTHESIZER:1:REGRESSION:1:1101:89693730:89703730,SYNTHESIZER:1:REGRESSION:3:1101:96422090:96432090,SYNTHESIZER:1:REGRESSION:4:1101:14366840:14376840,SYNTHESIZER:1:REGRESSION:4:1101:46242410:46252410,SYNTHESIZER:1:REGRESSION:4:1101:83513290:83523290,SYNTHESIZER:1:REGRESSION:1:1101:46890280:46900280,SYNTHESIZER:1:REGRESSION:1:1101:62249160:62259160,SYNTHESIZER:1:REGRESSION:1:1101:83615090:83625090,SYNTHESIZER:1:REGRESSION:2:1101:30913640:30923640,SYNTHESIZER:1:REGRESSION:2:1101:54231830:54241830,SYNTHESIZER:1:REGRESSION:4:1101:37250030:37260030,SYNTHESIZER:1:REGRESSION:4:1101:98267340:98277340 chr12:11869969-chr15:87940753 0.025 0.35294117647058826 0.18897058823529414 11 False PASS
KIF5B RET -/- +/+ chr10:32017143 chr10:43114480 CDS/splice-site CDS/splice-site inversion 1 9 0 153 27 high in-frame . Kinesin_motor_domain(100%)|Protein_kinase_domain(100%) . . ENSG00000170759.11 ENSG00000165731.20 ENST00000302418.5 ENST00000355710.8 upstream upstream duplicates(2) CGTGATCGCAAACGCTATCAGCAAGAAGTAGATCGCATAAAGGAAGCAGTCAGGTCAAAGAATATGGCCAGAAGAGGGCATTCTGCACAGATTG|ATCCACTGTGCGACGAGCTGTGCCGCACGGTGATCGCAGCCGCTGTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTTCTGCATCCACTGCTACCACAAGTTTGCCCACAAGCCAC RDRKRYQQEVDRIKEAVRSKNMARRGHSAQI|dPLCDELCRTVIAAAVLFSFIVSVLLSAFCIHCYHKFAHKP SYNTHESIZER:1:REGRESSION:3:1101:98713850:98723850,SYNTHESIZER:1:REGRESSION:1:1101:50600840:50610840,SYNTHESIZER:1:REGRESSION:1:1101:62528620:62538620,SYNTHESIZER:1:REGRESSION:2:1101:54674900:54684900,SYNTHESIZER:1:REGRESSION:2:1101:61557770:61567770,SYNTHESIZER:1:REGRESSION:3:1101:1751670:1761670,SYNTHESIZER:1:REGRESSION:3:1101:90250180:90260180,SYNTHESIZER:1:REGRESSION:4:1101:10754780:10764780,SYNTHESIZER:1:REGRESSION:4:1101:22443210:22453210,SYNTHESIZER:1:REGRESSION:4:1101:533760:543760,SYNTHESIZER:1:REGRESSION:4:1101:89687090:89697090,SYNTHESIZER:1:REGRESSION:4:1101:96585540:96595540 chr10:32017143-chr10:43114480 0.006493506493506494 0.25 0.12824675324675325 10 False PASS
PAX8 PPARG -/- +/+ chr2:113235394 chr3:12379704 CDS/splice-site CDS/splice-site translocation 1 7 0 7 19 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(1) CTTCCTCTTTATCTAGCTCCGCCTTTTTGGATCTGCAGCAAGTCGGCTCCGGGGTCCCGCCCTTCAATGCCTTTCCCCATGCTGCCTCCGTGTACGGGCAGTTCACGGGCCAGGCCCTCCTCTCAG|AAATGACCATGGTTGACACAGAGATGCCATTCTGGCCCACCAACTTTGGGATCAGCTCCGTGGATCTCTCCGTAATGGAAGACCACTCCCACTCCTTTGATATCAAGCCCTTCACTACTGTTGACTTCTCCAG SSLSSSAFLDLQQVGSGVPPFNAFPHAASVYGQFTGQALLS|eMTMVDTEMPFWPTNFGISSVDLSVMEDHSHSFDIKPFTTVDFS SYNTHESIZER:1:REGRESSION:2:1101:84478580:84488580,SYNTHESIZER:1:REGRESSION:1:1101:16887500:16897500,SYNTHESIZER:1:REGRESSION:1:1101:37680630:37690630,SYNTHESIZER:1:REGRESSION:2:1101:81157010:81167010,SYNTHESIZER:1:REGRESSION:3:1101:14604220:14614220,SYNTHESIZER:1:REGRESSION:3:1101:81025040:81035040,SYNTHESIZER:1:REGRESSION:4:1101:32146510:32156510,SYNTHESIZER:1:REGRESSION:4:1101:32584600:32594600,SYNTHESIZER:1:REGRESSION:4:1101:84808600:84818600 chr2:113235394-chr3:12379704 0.125 0.2692307692307692 0.1971153846153846 8 False PASS
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