File Info
- Filename
- discrepant_events_starfusion.tsv
- Full Path
- s3://natera-platform-sandbox/platform-users/smedina/cgp_postprocess/testing_smr/altera_residuals_recall_v2/discrepancies/discrepant_events_starfusion.tsv
- Size
- 345.0 KB
- Workflow Run
- altera_residuals_recall_v2
- Published
- Jun 06, 2026 3:00 PM
Content
View in new tab| record_type | patient_id | variant_type | event_id | FUSION_ID | FUSION_ID_norm | original_status | adjudicated_status | fn_note | test_tools | meta_patient_id | meta_experiment | meta_specimen_id | meta_specimen_source | meta_dspe_ticket | meta_specimen_type | meta_form_factor | meta_raw_cancer_type | meta_normalized_cancer_type | meta_raw_cancer_subtype | meta_raw_cancer_stage | meta_sex | meta_age | meta_specimen_location | meta_source_id | meta_lot | meta_specimen_failed | meta_sample_id | meta_sample_type | meta_extraction_method | meta_sample_location | meta_sample_barcode | meta_extraction_conc | meta_sample_volume_remaining | meta_dv200 | meta_din | meta_rin | meta_extraction_plate | meta_extraction_well | meta_sample_reserved | meta_sample_failed | meta_sample_failure_notes | meta_library_id | meta_library_input_mass | meta_library_volume | meta_library_conc | meta_library_plate | meta_library_well | meta_ratio_sample_secondary_sample | meta_library_failed | meta_library_failure_notes | meta_sequencing_library_id | meta_run_name | meta_lane | meta_loading_ratio | meta_seq_library_failed | meta_seq_library_failure_notes | test_DATA_SOURCE | test_SAMPLE_ID | test_SVTYPE | test_CHRA | test_CHRB | test_GENEA | test_GENEB | test_POSA | test_POSB | test_BREAKPOINT_ID | test_ORIENTATION | test_FOUND_IN | test_TOOL_HITS | test_PR | test_SR | test_FFPM | test_FUSION_READS | test_FILTER | test_FRAME_STATUS | test_FUSION_ID | test_FUSION_ID_norm | test_ANNOTATIONS | test_AR_CONFIDENCE | test_AR_TYPE | test_AR_SITE_A | test_AR_SITE_B | test_AR_COVERAGE_A | test_AR_COVERAGE_B | test_AR_FILTER_DUPLICATES | test_AR_FILTER_MISMATCHES | test_AR_FILTER_MISMAPPERS | test_AR_FILTER_MULTIMAPPERS | test_SF_SPLICE_TYPE | test_SF_LARGE_ANCHOR | test_SF_BREAK_ENTROPY_MIN | test_SF_IS_BLACKLISTED | test_SF_IS_NEIGHBORS | test_SF_IS_NEIGHBORS_OVERLAP | test_SF_BREAK_DINUC_LEFT | test_SF_BREAK_DINUC_RIGHT | test_SPLIT_READS1 | test_SPLIT_READS2 | test_IS_INFRAME | test_FILTER_REASON | test_ANNOT_DB_HITS | test_AR_FILTER | test_AR_aih_curated_reason | test_AR_blacklisted | test_AR_breakpoint1 | test_AR_breakpoint2 | test_AR_breakpoint_ID | test_AR_closest_genomic_breakpoint1 | test_AR_closest_genomic_breakpoint2 | test_AR_confidence | test_AR_coverage1 | test_AR_coverage2 | test_AR_direction1 | test_AR_direction2 | test_AR_discordant_mates | test_AR_filter_reason | test_AR_filters | test_AR_fusion_transcript | test_AR_gene1 | test_AR_gene2 | test_AR_gene_id1 | test_AR_gene_id2 | test_AR_peptide_sequence | test_AR_read_identifiers | test_AR_reading_frame | test_AR_retained_protein_domains | test_AR_site1 | test_AR_site2 | test_AR_split_reads1 | test_AR_split_reads2 | test_AR_strand1(gene/fusion) | test_AR_strand2(gene/fusion) | test_AR_tags | test_AR_total_reads | test_AR_transcript_id1 | test_AR_transcript_id2 | test_AR_type | test_AR_vaf1 | test_AR_vaf2 | test_AR_vaf_avg | test_SF_CALL | test_SF_CDS_LEFT_ID | test_SF_CDS_LEFT_RANGE | test_SF_CDS_RIGHT_ID | test_SF_CDS_RIGHT_RANGE | test_SF_FFPM | test_SF_FILTER | test_SF_FUSION_CDS | test_SF_FUSION_MODEL | test_SF_FUSION_TRANSL | test_SF_FusionName | test_SF_JunctionReadCount | test_SF_JunctionReads | test_SF_LargeAnchorSupport | test_SF_LeftBreakDinuc | test_SF_LeftBreakEntropy | test_SF_LeftBreakpoint | test_SF_LeftGene | test_SF_PFAM_LEFT | test_SF_PFAM_RIGHT | test_SF_PROT_FUSION_TYPE | test_SF_RightBreakDinuc | test_SF_RightBreakEntropy | test_SF_RightBreakpoint | test_SF_RightGene | test_SF_SpanningFragCount | test_SF_SpanningFrags | test_SF_SpliceType | test_SF_aih_curated_reason | test_SF_annots | test_SF_blacklist_reasons | test_SF_blacklisted | test_SF_breakpoint_ID | test_SF_est_J | test_SF_est_S | test_SF_filter_reason | test_SF_total_reads | test_patient_id | caller |
| fp_audit | 1173_9C | fusion | CWC25--ERBB2 | ERBB2--CWC25 | CWC25--ERBB2 | FP | FP | Arriba; STAR-Fusion | dev_rna_exp0016 | 1173_9C | altera_exact | 1173 | clinical | patient | ovary | Ovarian | 51 | unknown | False | 1173_9C_T1_RNA_SLD_01 | tRNA | altera_inhouse | ssf | 51.10 | 38.00 | 36.79 | AIH_Ext13_RNA | H05 | False | dev_rna_exp0016_lib_s56 | 200.00 | 80.97 | dev_rna_exp0016 | H07 | False | 1173_9C_T1_RNA_SLD_01_A23T55JLT4_1 | dev_rna_exp0016 | 1,2,3,4,5,6,7,8 | 1.00 | False | nfcore_rnafusion | 1173_9C_T1_RNA_SLD_01_A23T55JLT4_1 | BND | chr17 | chr17 | ERBB2 | CWC25 | 39717480 | 38821073 | chr17:39717480-chr17:38821073 | +,- | STAR-Fusion | 1 | 0 | 121 | 0.4112 | 121 | PASS | out-of-frame | ERBB2--CWC25 | CWC25--ERBB2 | ["INTRACHROMOSOMAL[chr17:0.86Mb]"] | ONLY_REF_SPLICE | YES_LDAS | 1.6402 | False | False | False | GT | AG | 121 | False | 1 | ENST00000269571.10 | 1-1898 | ENST00000614790.5 | 19-1278 | 0.4112 | PASS | atggagctggcggccttgtgccgctgggggctcctcctcgccctcttgccccccggagccgcgagcacccaagtgtgcaccggcacagacatgaagctgcggctccctgccagtcccgagacccacctggacatgctccgccacctctaccagggctgccaggtggtgcagggaaacctggaactcacctacctgcccaccaatgccagcctgtccttcctgcaggatatccaggaggtgcagggctacgtgctcatcgctcacaaccaagtgaggcaggtcccactgcagaggctgcggattgtgcgaggcacccagctctttgaggacaactatgccctggccgtgctagacaatggagacccgctgaacaataccacccctgtcacaggggcctccccaggaggcctgcgggagctgcagcttcgaagcctcacagagatcttgaaaggaggggtcttgatccagcggaacccccagctctgctaccaggacacgattttgtggaaggacatcttccacaagaacaaccagctggctctcacactgatagacaccaaccgctctcgggcctgccacccctgttctccgatgtgtaagggctcccgctgctggggagagagttctgaggattgtcagagcctgacgcgcactgtctgtgccggtggctgtgcccgctgcaaggggccactgcccactgactgctgccatgagcagtgtgctgccggctgcacgggccccaagcactctgactgcctggcctgcctccacttcaaccacagtggcatctgtgagctgcactgcccagccctggtcacctacaacacagacacgtttgagtccatgcccaatcccgagggccggtatacattcggcgccagctgtgtgactgcctgtccctacaactacctttctacggacgtgggatcctgcaccctcgtctgccccctgcacaaccaagaggtgacagcagaggatggaacacagcggtgtgagaagtgcagcaagccctgtgcccgagtgtgctatggtctgggcatggagcacttgcgagaggtgagggcagttaccagtgccaatatccaggagtttgctggctgcaagaagatctttgggagcctggcatttctgccggagagctttgatggggacccagcctccaacactgccccgctccagccagagcagctccaagtgtttgagactctggaagagatcacaggttacctatacatctcagcatggccggacagcctgcctgacctcagcgtcttccagaacctgcaagtaatccggggacgaattctgcacaatggcgcctactcgctgaccctgcaagggctgggcatcagctggctggggctgcgctcactgagggaactgggcagtggactggccctcatccaccataacacccacctctgcttcgtgcacacggtgccctgggaccagctctttcggaacccgcaccaagctctgctccacactgccaaccggccagaggacgagtgtgtgggcgagggcctggcctgccaccagctgtgcgcccgagggcactgctggggtccagggcccacccagtgtgtcaactgcagccagttccttcggggccaggagtgcgtggaggaatgccgagtactgcaggggctccccagggagtatgtgaatgccaggcactgtttgccgtgccaccctgagtgtcagccccagaatggctcagtgacctgttttggaccggaggctgaccagtgtgtggcctgtgcccactataaggaccctcccttctgcgtggcccgctgccccagcggtgtgaaacctgacctctcctacatgcccatctggaagtttccagatgaggagggcgcatgccagccttgccccatcaactgcacccactcAATCTGAAGAAGAGCTGGCACCCGCAGACCCTCAGGAATGTGGAGAAAGTGTGGAAGGCCGAGCAGAAGCATGAGGCTGAGCGGAAGAAGATTGAGGAGCTTCAGCGGGAGCTGCGAGAAGAGAGAGCCCGGGAAGAGATGCAGCGCTATGCGGAGGATGTTGGGGCCGTCAAGAAAAAAGAAGAAAAGTTGGACTGGATGTACCAGGGTCCTGGTGGGATGGTGAACCGTGACGAGTACCTGCTGGGGCGCCCCATTGACAAATATGTTTTTGAGAAGATGGAGGAGAAGGAGGCAGGCTGCTCTTCTGAAACAGGACTTCTCCCAGGCTCTATCTTTGCCCCATCAGGTGCCAATTCCCTTCTTGACATGGCCAGCAAGATCCGGGAGGACCCACTCTTCATCATCAGGAAGAAGGAGGAGGAGAAAAAACGAGAGGTATTAAATAATCCAGTGAAAATGAAGAAAATCAAAGAATTGTTGCAAATGAGTCTGGAAAAAAAGGAGAAGAAGAAAAAGAAGGAGAAGAAAAAGAAGCACAAGAAACATAAGCACAGAAGCTCGAGTAGTGATCGTTCCAGCAGCGAGGATGAGCACAGTGCAGGGAGATCACAGAAGAAGATGGCAAATTCCTCCCCTGTTTTGTCCAAAGTCCCTGGATATGGCTTACAGGTCCGGAACTCTGACCGTAACCAGGGTCTTCAGGGTCCTCTGACAGCAGAGCAAAAGAGAGGGCATGGGATGAAGAACCATTCCAGATCCAGAAGCTCCTCCCACTCACCCCCAAGACATGCCAGCAAGAAGAGCACCAGGGAAGCAGGGTCCCGGGACAGGAGGTCTCGATCCCTGGGCAGAAGGTCACGGTCCCCAAGACCCAGCAAACTGCACAACTCTAAGGTGAACAGGAGAGAGACAGGCCAAACTAGGAGCCCATCACCTAAAAAAGAGGTCTACCAAAGGCGACATGCTCCCGGATACACCAGAAAACTCTCTGCAGAGGAATTAGAGCGAAAACGGCAAGAGATGATGGAAAACGCCAAATGGAGGGAGGAGGAGAGACTGAACATCCTCAAGAGGCATGCTAAGGATGAGGAACGGGAGCAGAGGCTAGAGAAGCTGGACTCCCGGGATGGGAAGTTCATCCACCGCATGAAGCTGGAGAGTGCATCTACTTCCTCCCTGGAGGATCGGGTGAAGCGGAATATCTACTCTTTACAGAGAACTTCGGTAGCTCTGGAGAAGAACTTTATGAAAAGATGA | chr17|+|[0]39700239-39700311[0]|[1]39706990-39707141[2]|[0]39708321-39708534[0]|[1]39709318-39709452[0]|[1]39709813-39709881[0]|[1]39710086-39710201[2]|[0]39710340-39710481[0]|[1]39711928-39712047[0]|[1]39712322-39712448[1]|[2]39715286-39715359[0]|[1]39715446-39715536[1]|[2]39715740-39715939[0]|[1]39716301-39716433[1]|[2]39716515-39716605[2]|[0]39717320-39717480[1]<==>chr17|-|[2]38802092-38802206[2]|[1]38802700-38802861[2]|[1]38806297-38806395[2]|[1]38806765-38806976[0]|[2]38809702-38809765[2]|[1]38810468-38810595[0]|[2]38812795-38812864[2]|[1]38814861-38815097[2]|[1]38820901-38821073[0] | MELAALCRWGLLLALLPPGAASTQVCTGTDMKLRLPASPETHLDMLRHLYQGCQVVQGNLELTYLPTNASLSFLQDIQEVQGYVLIAHNQVRQVPLQRLRIVRGTQLFEDNYALAVLDNGDPLNNTTPVTGASPGGLRELQLRSLTEILKGGVLIQRNPQLCYQDTILWKDIFHKNNQLALTLIDTNRSRACHPCSPMCKGSRCWGESSEDCQSLTRTVCAGGCARCKGPLPTDCCHEQCAAGCTGPKHSDCLACLHFNHSGICELHCPALVTYNTDTFESMPNPEGRYTFGASCVTACPYNYLSTDVGSCTLVCPLHNQEVTAEDGTQRCEKCSKPCARVCYGLGMEHLREVRAVTSANIQEFAGCKKIFGSLAFLPESFDGDPASNTAPLQPEQLQVFETLEEITGYLYISAWPDSLPDLSVFQNLQVIRGRILHNGAYSLTLQGLGISWLGLRSLRELGSGLALIHHNTHLCFVHTVPWDQLFRNPHQALLHTANRPEDECVGEGLACHQLCARGHCWGPGPTQCVNCSQFLRGQECVEECRVLQGLPREYVNARHCLPCHPECQPQNGSVTCFGPEADQCVACAHYKDPPFCVARCPSGVKPDLSYMPIWKFPDEEGACQPCPINCTHSI*RRAGTRRPSGMWRKCGRPSRSMRLSGRRLRSFSGSCEKREPGKRCSAMRRMLGPSRKKKKSWTGCTRVLVGW*TVTSTCWGAPLTNMFLRRWRRRRQAALLKQDFSQALSLPHQVPIPFLTWPARSGRTHSSSSGRRRRRKNERY*IIQ*K*RKSKNCCK*VWKKRRRRKRRRRKRSTRNISTEARVVIVPAARMSTVQGDHRRRWQIPPLFCPKSLDMAYRSGTLTVTRVFRVL*QQSKREGMG*RTIPDPEAPPTHPQDMPARRAPGKQGPGTGGLDPWAEGHGPQDPANCTTLR*TGERQAKLGAHHLKKRSTKGDMLPDTPENSLQRN*SENGKR*WKTPNGGRRRD*TSSRGMLRMRNGSRG*RSWTPGMGSSSTA*SWRVHLLPPWRIG*SGISTLYRELR*LWRRTL*KD | ERBB2--CWC25 | 121 | LH00995:25:23T55JLT4:1:1101:34776:23406,LH00995:25:23T55JLT4:1:1165:12658:8609,LH00995:25:23T55JLT4:1:1189:9219:17815,LH00995:25:23T55JLT4:1:1210:37324:15293,LH00995:25:23T55JLT4:1:1226:48917:2695,LH00995:25:23T55JLT4:1:1266:40681:18361,LH00995:25:23T55JLT4:1:1268:35140:14396,LH00995:25:23T55JLT4:1:1268:36062:25157,LH00995:25:23T55JLT4:1:1280:23296:13863,LH00995:25:23T55JLT4:1:1301:9600:18641,LH00995:25:23T55JLT4:1:1304:5547:20589,LH00995:25:23T55JLT4:1:1358:6339:5848,LH00995:25:23T55JLT4:1:1368:12666:15433,LH00995:25:23T55JLT4:1:1370:45738:8342,LH00995:25:23T55JLT4:1:1405:26200:3676,LH00995:25:23T55JLT4:1:1424:12747:14844,LH00995:25:23T55JLT4:1:1448:3751:22971,LH00995:25:23T55JLT4:1:1462:50616:6507,LH00995:25:23T55JLT4:1:1471:4123:6241,LH00995:25:23T55JLT4:1:1476:22592:19847,LH00995:25:23T55JLT4:1:2110:28595:6058,LH00995:25:23T55JLT4:1:2148:27713:6745,LH00995:25:23T55JLT4:1:2167:16015:21206,LH00995:25:23T55JLT4:1:2170:9106:14676,LH00995:25:23T55JLT4:1:2188:31831:19174,LH00995:25:23T55JLT4:1:2202:40317:14340,LH00995:25:23T55JLT4:1:2209:8224:22817,LH00995:25:23T55JLT4:1:2212:5361:28898,LH00995:25:23T55JLT4:1:2271:45042:14200,LH00995:25:23T55JLT4:1:2274:12593:4181,LH00995:25:23T55JLT4:1:2382:3912:8342,LH00995:25:23T55JLT4:1:2382:6938:24737,LH00995:25:23T55JLT4:1:2455:20076:28772,LH00995:25:23T55JLT4:2:1132:38675:6451,LH00995:25:23T55JLT4:2:1162:15004:21612,LH00995:25:23T55JLT4:2:1210:33692:11075,LH00995:25:23T55JLT4:2:1228:43343:12210,LH00995:25:23T55JLT4:2:1257:26872:7109,LH00995:25:23T55JLT4:2:1265:43634:15489,LH00995:25:23T55JLT4:2:1303:4317:24316,LH00995:25:23T55JLT4:2:1329:52113:23252,LH00995:25:23T55JLT4:2:1363:43214:12098,LH00995:25:23T55JLT4:2:1370:46611:20673,LH00995:25:23T55JLT4:2:1375:45196:15559,LH00995:25:23T55JLT4:2:1375:47615:25746,LH00995:25:23T55JLT4:2:1413:5644:10024,LH00995:25:23T55JLT4:2:1424:23013:28086,LH00995:25:23T55JLT4:2:2128:25100:9477,LH00995:25:23T55JLT4:2:2138:12075:23546,LH00995:25:23T55JLT4:2:2217:18474:13387,LH00995:25:23T55JLT4:2:2218:6186:6283,LH00995:25:23T55JLT4:2:2283:44581:1322,LH00995:25:23T55JLT4:2:2294:3977:25914,LH00995:25:23T55JLT4:2:2307:14203:16189,LH00995:25:23T55JLT4:2:2319:15902:26951,LH00995:25:23T55JLT4:2:2338:48529:8020,LH00995:25:23T55JLT4:2:2350:43772:23938,LH00995:25:23T55JLT4:2:2358:6598:17983,LH00995:25:23T55JLT4:2:2362:35148:13513,LH00995:25:23T55JLT4:2:2382:33797:23223,LH00995:25:23T55JLT4:2:2401:12027:4657,LH00995:25:23T55JLT4:2:2452:51643:24877,LH00995:25:23T55JLT4:2:2464:24356:1350,LH00995:25:23T55JLT4:2:2465:5077:26727,LH00995:25:23T55JLT4:2:2480:44451:23490,LH00995:25:23T55JLT4:2:2491:2772:6199,LH00995:25:23T55JLT4:3:1184:38076:14073,LH00995:25:23T55JLT4:3:1186:5886:1953,LH00995:25:23T55JLT4:3:1253:21581:27091,LH00995:25:23T55JLT4:3:1261:46684:6002,LH00995:25:23T55JLT4:3:1285:31386:26250,LH00995:25:23T55JLT4:3:1306:36499:3887,LH00995:25:23T55JLT4:3:1442:33676:15559,LH00995:25:23T55JLT4:3:1487:4818:16946,LH00995:25:23T55JLT4:3:2375:30755:16666,LH00995:25:23T55JLT4:4:1104:43772:24415,LH00995:25:23T55JLT4:4:1107:29436:21976,LH00995:25:23T55JLT4:4:1140:34428:4867,LH00995:25:23T55JLT4:4:1161:37235:28898,LH00995:25:23T55JLT4:4:1245:50972:27385,LH00995:25:23T55JLT4:4:1265:44848:28464,LH00995:25:23T55JLT4:4:1341:50665:3032,LH00995:25:23T55JLT4:4:1352:31232:8132,LH00995:25:23T55JLT4:4:2190:44670:8455,LH00995:25:23T55JLT4:5:1104:8192:22341,LH00995:25:23T55JLT4:5:1162:22900:6955,LH00995:25:23T55JLT4:5:1174:28830:11817,LH00995:25:23T55JLT4:5:1244:36232:17941,LH00995:25:23T55JLT4:5:1283:14324:28002,LH00995:25:23T55JLT4:5:1320:50640:25886,LH00995:25:23T55JLT4:5:1425:3524:26054,LH00995:25:23T55JLT4:5:1435:32858:21234,LH00995:25:23T55JLT4:5:2145:25820:27679,LH00995:25:23T55JLT4:5:2365:27956:7221,LH00995:25:23T55JLT4:5:2369:18604:16385,LH00995:25:23T55JLT4:5:2392:41968:11986,LH00995:25:23T55JLT4:5:2412:49216:2373,LH00995:25:23T55JLT4:5:2419:40512:4475,LH00995:25:23T55JLT4:5:2473:35989:7768,LH00995:25:23T55JLT4:6:1132:28417:13289,LH00995:25:23T55JLT4:6:1277:33627:13345,LH00995:25:23T55JLT4:6:1304:5943:14606,LH00995:25:23T55JLT4:6:1339:32519:3466,LH00995:25:23T55JLT4:6:1444:2934:25564,LH00995:25:23T55JLT4:6:2135:23029:5386,LH00995:25:23T55JLT4:6:2194:40447:12210,LH00995:25:23T55JLT4:6:2272:48318:7095,LH00995:25:23T55JLT4:6:2428:25351:25129,LH00995:25:23T55JLT4:6:2439:17552:8567,LH00995:25:23T55JLT4:6:2476:34185:9351,LH00995:25:23T55JLT4:8:1141:18580:6815,LH00995:25:23T55JLT4:8:1322:30164:22032,LH00995:25:23T55JLT4:8:1358:13442:8959,LH00995:25:23T55JLT4:8:1381:47801:11243,LH00995:25:23T55JLT4:8:1389:43327:20113,LH00995:25:23T55JLT4:8:1428:50139:10304,LH00995:25:23T55JLT4:8:2112:19283:25914,LH00995:25:23T55JLT4:8:2262:17107:8889,LH00995:25:23T55JLT4:8:2428:43861:27315,LH00995:25:23T55JLT4:8:2430:21435:26867,LH00995:25:23T55JLT4:8:2496:15457:8861 | YES_LDAS | GT | 1.6402 | chr17:39717480:+ | ERBB2^ENSG00000141736.14 | Recep_L_domain|52-172|4.1e-36^Furin-like|190-343|2.1e-28^GF_recep_IV|195-280|1.3e-05^GF_recep_IV|307-356|0.014^Recep_L_domain|366-485|4.7e-22^Furin-like|496-562|7e-06^GF_recep_IV|511-642|1.2e-44^Furin-like|563-612|0.11^PK_Tyr_Ser-Thr|722-975|1.7e-89^Pkinase|722-974|5.1e-40^Kinase-like|804-919|0.00015^APH|822-869|1.5e-05 | Cir_N-PARTIAL|~19-47|3.9e-19^CWC25|22-41|0.52^CWC25|66-157|1.3e-23^SPC25|128-186|0.00049^Cir_N|143-153|0.12^Cir_N|161-168|1.2^CWC25|172-215|1.5^Cir_N|173-185|3^CWC25|340-340|0.76^Cir_N|340-349|3^Cir_N|367-377|3 | FRAMESHIFT | AG | 1.7968 | chr17:38821073:- | CWC25^ENSG00000273559.5 | 0 | . | ONLY_REF_SPLICE | ["INTRACHROMOSOMAL[chr17:0.86Mb]"] | False | chr17:39717480-chr17:38821073 | 121.0 | 0.0 | 121 | 1173_9C | STAR-Fusion | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| fp_audit | 1173_9C | fusion | ERBB2--JUP | ERBB2--JUP | ERBB2--JUP | FP | FP | Arriba; STAR-Fusion | dev_rna_exp0016 | 1173_9C | altera_exact | 1173 | clinical | patient | ovary | Ovarian | 51 | unknown | False | 1173_9C_T1_RNA_SLD_01 | tRNA | altera_inhouse | ssf | 51.10 | 38.00 | 36.79 | AIH_Ext13_RNA | H05 | False | dev_rna_exp0016_lib_s56 | 200.00 | 80.97 | dev_rna_exp0016 | H07 | False | 1173_9C_T1_RNA_SLD_01_A23T55JLT4_1 | dev_rna_exp0016 | 1,2,3,4,5,6,7,8 | 1.00 | False | nfcore_rnafusion | 1173_9C_T1_RNA_SLD_01_A23T55JLT4_1 | BND | chr17 | chr17 | ERBB2 | JUP | 39700311 | 41771862 | chr17:39700311-chr17:41771862 | +,- | STAR-Fusion | 1 | 0 | 213 | 0.7239 | 213 | PASS | ERBB2--JUP | ERBB2--JUP | ["DEEPEST2019","ChimerSeq","INTRACHROMOSOMAL[chr17:2.02Mb]"] | ONLY_REF_SPLICE | YES_LDAS | 1.5301 | False | False | False | GT | AG | 213 | ChimerSeq;DEEPEST2019 | 1 | . | . | . | . | 0.7239 | PASS | . | . | . | ERBB2--JUP | 213 | 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| YES_LDAS | GT | 1.5301 | chr17:39700311:+ | ERBB2^ENSG00000141736.14 | . | . | . | AG | 1.8892 | chr17:41771862:- | JUP^ENSG00000173801.17 | 0 | . | ONLY_REF_SPLICE | ["DEEPEST2019","ChimerSeq","INTRACHROMOSOMAL[chr17:2.02Mb]"] | False | chr17:39700311-chr17:41771862 | 213.0 | 0.0 | 213 | 1173_9C | STAR-Fusion | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| fp_audit | 1173_FWA | fusion | KAT2B--MET | MET--KAT2B | KAT2B--MET | FP | FP | Arriba | dev_rna_exp0016 | 1173_FWA | altera_exact | 1173 | clinical | patient | crc | Colorectal | unknown | False | 1173_FWA_T1_RNA_SLD_01 | tRNA | altera_inhouse | ssf | 5.39 | 35.00 | 47.02 | AIH_Ext12_RNA | C02 | False | dev_rna_exp0016_lib_s70 | 100.00 | 3.18 | dev_rna_exp0016 | F09 | False | 1173_FWA_T1_RNA_SLD_01_A23T55JLT4_2 | dev_rna_exp0016 | 1,2,3,4,5,6,7,8 | 1.00 | False | nfcore_rnafusion | 1173_FWA_T1_RNA_SLD_01_A23T55JLT4_1 | BND | chr7 | chr3 | MET | KAT2B | 116724249 | 20072333 | chr7:116724249-chr3:20072333 | +,+ | STAR-Fusion | 1 | 0 | 7 | 0.0187 | 7 | FAIL | MET--KAT2B | KAT2B--MET | ["INTERCHROMOSOMAL[chr7--chr3]"] | ONLY_REF_SPLICE | YES_LDAS | 1.8892 | False | False | False | GT | AG | 7 | Read count too low: 7 < 8 | 0 | . | . | . | . | 0.0187 | FAIL | . | . | . | MET--KAT2B | 7 | LH00995:25:23T55JLT4:1:1244:32203:21248,LH00995:25:23T55JLT4:1:1411:6760:13723,LH00995:25:23T55JLT4:1:2352:15611:16189,LH00995:25:23T55JLT4:2:2461:47364:1322,LH00995:25:23T55JLT4:3:1169:23806:18978,LH00995:25:23T55JLT4:5:1158:24073:8370,LH00995:25:23T55JLT4:5:2431:16031:25493 | YES_LDAS | GT | 1.9656 | chr7:116724249:+ | MET^ENSG00000105976.16 | . | . | . | AG | 1.8892 | chr3:20072333:+ | KAT2B^ENSG00000114166.8 | 0 | . | ONLY_REF_SPLICE | ["INTERCHROMOSOMAL[chr7--chr3]"] | False | chr7:116724249-chr3:20072333 | 5.5 | 0.0 | Read count too low: 7 < 8 | 7 | 1173_FWA | STAR-Fusion | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| fp_audit | 1173_FWA | fusion | KAT2B--MET | MET--KAT2B | KAT2B--MET | FP | FP | Arriba | dev_rna_exp0016 | 1173_FWA | altera_exact | 1173 | clinical | patient | crc | Colorectal | unknown | False | 1173_FWA_T1_RNA_SLD_01 | tRNA | altera_inhouse | ssf | 5.39 | 35.00 | 47.02 | AIH_Ext12_RNA | C02 | False | dev_rna_exp0016_lib_s70 | 100.00 | 3.18 | dev_rna_exp0016 | F09 | False | 1173_FWA_T1_RNA_SLD_01_A23T55JLT4_2 | dev_rna_exp0016 | 1,2,3,4,5,6,7,8 | 1.00 | False | nfcore_rnafusion | 1173_FWA_T1_RNA_SLD_01_A23T55JLT4_1 | BND | chr7 | chr3 | MET | KAT2B | 116724249 | 20072333 | chr7:116724249-chr3:20072333 | +,+ | STAR-Fusion | 1 | 0 | 7 | 0.0187 | 7 | FAIL | MET--KAT2B | KAT2B--MET | ["INTERCHROMOSOMAL[chr7--chr3]"] | ONLY_REF_SPLICE | YES_LDAS | 1.8892 | False | False | False | GT | AG | 7 | Read count too low: 7 < 8 | 0 | . | . | . | . | 0.0187 | FAIL | . | . | . | MET--KAT2B | 7 | LH00995:25:23T55JLT4:1:1244:32203:21248,LH00995:25:23T55JLT4:1:1411:6760:13723,LH00995:25:23T55JLT4:1:2352:15611:16189,LH00995:25:23T55JLT4:2:2461:47364:1322,LH00995:25:23T55JLT4:3:1169:23806:18978,LH00995:25:23T55JLT4:5:1158:24073:8370,LH00995:25:23T55JLT4:5:2431:16031:25493 | YES_LDAS | GT | 1.9656 | chr7:116724249:+ | MET^ENSG00000105976.16 | . | . | . | AG | 1.8892 | chr3:20072333:+ | KAT2B^ENSG00000114166.8 | 0 | . | ONLY_REF_SPLICE | ["INTERCHROMOSOMAL[chr7--chr3]"] | False | chr7:116724249-chr3:20072333 | 5.5 | 0.0 | Read count too low: 7 < 8 | 7 | 1173_FWA | STAR-Fusion | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| fp_audit | 1173_LAF | fusion | DYRK1A--ERG | DYRK1A--ERG | DYRK1A--ERG | FP | FP | Arriba | dev_rna_exp0016 | 1173_LAF | altera_exact | 1173 | clinical | patient | lung | Lung | 46 | unknown | False | 1173_LAF_T1_RNA_SLD_01 | tRNA | altera_inhouse | ssf | 24.10 | 38.00 | 27.34 | AIH_Ext13_RNA | A03 | False | dev_rna_exp0016_lib_s33 | 200.00 | 36.67 | dev_rna_exp0016 | A05 | False | 1173_LAF_T1_RNA_SLD_01_A23T55JLT4_1 | dev_rna_exp0016 | 1,2,3,4,5,6,7,8 | 1.00 | False | nfcore_rnafusion | 1173_LAF_T1_RNA_SLD_01_A23T55JLT4_2 | BND | chr21 | chr21 | DYRK1A | ERG | 37420384 | 38445621 | chr21:37420384-chr21:38445621 | +,- | STAR-Fusion | 1 | 0 | 1 | 0.0125 | 1 | FAIL | out-of-frame | DYRK1A--ERG | DYRK1A--ERG | ["INTRACHROMOSOMAL[chr21:0.85Mb]"] | ONLY_REF_SPLICE | NO_LDAS | 1.8892 | False | False | False | GT | AG | 1 | False | Read count too low: 1 < 8 | 0 | ENST00000398956.2 | 1-10 | ENST00000417133.6 | 40-1461 | 0.0125 | FAIL | atgcatacagGAAGCCTTATCAGTTGTGAGTGAGGACCAGTCGTTGTTTGAGTGTGCCTACGGAACGCCACACCTGGCTAAGACAGAGATGACCGCGTCCTCCTCCAGCGACTATGGACAGACTTCCAAGATGAGCCCACGCGTCCCTCAGCAGGATTGGCTGTCTCAACCCCCAGCCAGGGTCACCATCAAAATGGAATGTAACCCTAGCCAGGTGAATGGCTCAAGGAACTCTCCTGATGAATGCAGTGTGGCCAAAGGCGGGAAGATGGTGGGCAGCCCAGACACCGTTGGGATGAACTACGGCAGCTACATGGAGGAGAAGCACATGCCACCCCCAAACATGACCACGAACGAGCGCAGAGTTATCGTGCCAGCAGATCCTACGCTATGGAGTACAGACCATGTGCGGCAGTGGCTGGAGTGGGCGGTGAAAGAATATGGCCTTCCAGACGTCAACATCTTGTTATTCCAGAACATCGATGGGAAGGAACTGTGCAAGATGACCAAGGACGACTTCCAGAGGCTCACCCCCAGCTACAACGCCGACATCCTTCTCTCACATCTCCACTACCTCAGAGAGACTCCTCTTCCACATTTGACTTCAGATGATGTTGATAAAGCCTTACAAAACTCTCCACGGTTAATGCATGCTAGAAACACAGGGGGTGCAGCTTTTATTTTCCCAAATACTTCAGTATATCCTGAAGCTACGCAAAGAATTACAACTAGGCCAGATTTACCATATGAGCCCCCCAGGAGATCAGCCTGGACCGGTCACGGCCACCCCACGCCCCAGTCGAAAGCTGCTCAACCATCTCCTTCCACAGTGCCCAAAACTGAAGACCAGCGTCCTCAGTTAGATCCTTATCAGATTCTTGGACCAACAAGTAGCCGCCTTGCAAATCCAGGCAGTGGCCAGATCCAGCTTTGGCAGTTCCTCCTGGAGCTCCTGTCGGACAGCTCCAACTCCAGCTGCATCACCTGGGAAGGCACCAACGGGGAGTTCAAGATGACGGATCCCGACGAGGTGGCCCGGCGCTGGGGAGAGCGGAAGAGCAAACCCAACATGAACTACGATAAGCTCAGCCGCGCCCTCCGTTACTACTATGACAAGAACATCATGACCAAGGTCCATGGGAAGCGCTACGCCTACAAGTTCGACTTCCACGGGATCGCCCAGGCCCTCCAGCCCCACCCCCCGGAGTCATCTCTGTACAAGTACCCCTCAGACCTCCCGTACATGGGCTCCTATCACGCCCACCCACAGAAGATGAACTTTGTGGCGCCCCACCCTCCAGCCCTCCCCGTGACATCTTCCAGTTTTTTTGCTGCCCCAAACCCATACTGGAATTCACCAACTGGGGGTATATACCCCAACACTAGGCTCCCCACCAGCCATATGCCTTCTCATCTGGGCACTTACTACTAA | chr21|+|[0]37420375-37420384[0]<==>chr21|-|[2]38383403-38383923[1]|[0]38390995-38391042[1]|[0]38391659-38391715[1]|[0]38392376-38392444[1]|[0]38400574-38400645[1]|[0]38402557-38402637[1]|[0]38403506-38403709[1]|[0]38423410-38423561[2]|[1]38445404-38445621[0] | MHTGSLISCE*GPVVV*VCLRNATPG*DRDDRVLLQRLWTDFQDEPTRPSAGLAVSTPSQGHHQNGM*P*PGEWLKELS**MQCGQRREDGGQPRHRWDELRQLHGGEAHATPKHDHERAQSYRASRSYAMEYRPCAAVAGVGGERIWPSRRQHLVIPEHRWEGTVQDDQGRLPEAHPQLQRRHPSLTSPLPQRDSSSTFDFR*C**SLTKLSTVNAC*KHRGCSFYFPKYFSIS*SYAKNYN*ARFTI*APQEISLDRSRPPHAPVESCSTISFHSAQN*RPASSVRSLSDSWTNK*PPCKSRQWPDPALAVPPGAPVGQLQLQLHHLGRHQRGVQDDGSRRGGPALGRAEEQTQHELR*AQPRPPLLL*QEHHDQGPWEALRLQVRLPRDRPGPPAPPPGVISVQVPLRPPVHGLLSRPPTEDELCGAPPSSPPRDIFQFFCCPKPILEFTNWGYIPQH*APHQPYAFSSGHLLL | DYRK1A--ERG | 1 | LH00995:25:23T55JLT4:1:1172:37526:14073 | NO_LDAS | GT | 1.8892 | chr21:37420384:+ | DYRK1A^ENSG00000157540.22 | . | SAM_PNT|123-204|1.4e-29^Arb2|138-171|4e-05^SAM_1|141-186|4e-05^SAM_3|143-200|1.3e-05^Ets|319-397|1.2e-38 | FRAMESHIFT | AG | 1.9656 | chr21:38445621:- | ERG^ENSG00000157554.19 | 0 | . | ONLY_REF_SPLICE | ["INTRACHROMOSOMAL[chr21:0.85Mb]"] | False | chr21:37420384-chr21:38445621 | 1.0 | 0.0 | Read count too low: 1 < 8 | 1 | 1173_LAF | STAR-Fusion | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| fp_audit | 1173_LAF | fusion | DYRK1A--ERG | DYRK1A--ERG | DYRK1A--ERG | FP | FP | Arriba | dev_rna_exp0016 | 1173_LAF | altera_exact | 1173 | clinical | patient | lung | Lung | 46 | unknown | False | 1173_LAF_T1_RNA_SLD_01 | tRNA | altera_inhouse | ssf | 24.10 | 38.00 | 27.34 | AIH_Ext13_RNA | A03 | False | dev_rna_exp0016_lib_s33 | 200.00 | 36.67 | dev_rna_exp0016 | A05 | False | 1173_LAF_T1_RNA_SLD_01_A23T55JLT4_1 | dev_rna_exp0016 | 1,2,3,4,5,6,7,8 | 1.00 | False | nfcore_rnafusion | 1173_LAF_T1_RNA_SLD_01_A23T55JLT4_2 | BND | chr21 | chr21 | DYRK1A | ERG | 37366943 | 38445621 | chr21:37366943-chr21:38445621 | +,- | STAR-Fusion | 1 | 0 | 1 | 0.0125 | 1 | FAIL | DYRK1A--ERG | DYRK1A--ERG | ["INTRACHROMOSOMAL[chr21:0.85Mb]"] | INCL_NON_REF_SPLICE | YES_LDAS | 1.8323 | False | False | False | GT | AG | 1 | Read count too low: 1 < 8 | 0 | . | . | . | . | 0.0125 | FAIL | . | . | . | DYRK1A--ERG | 1 | LH00995:25:23T55JLT4:1:2197:16055:5218 | YES_LDAS | GT | 1.8323 | chr21:37366943:+ | DYRK1A^ENSG00000157540.22 | . | . | . | AG | 1.9656 | chr21:38445621:- | ERG^ENSG00000157554.19 | 0 | . | INCL_NON_REF_SPLICE | ["INTRACHROMOSOMAL[chr21:0.85Mb]"] | False | chr21:37366943-chr21:38445621 | 1.0 | 0.0 | Read count too low: 1 < 8 | 1 | 1173_LAF | STAR-Fusion | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| fp_audit | 1173_LAF | fusion | DYRK1A--ERG | DYRK1A--ERG | DYRK1A--ERG | FP | FP | Arriba | dev_rna_exp0016 | 1173_LAF | altera_exact | 1173 | clinical | patient | lung | Lung | 46 | unknown | False | 1173_LAF_T1_RNA_SLD_01 | tRNA | altera_inhouse | ssf | 24.10 | 38.00 | 27.34 | AIH_Ext13_RNA | A03 | False | dev_rna_exp0016_lib_s33 | 200.00 | 36.67 | dev_rna_exp0016 | A05 | False | 1173_LAF_T1_RNA_SLD_01_A23T55JLT4_1 | dev_rna_exp0016 | 1,2,3,4,5,6,7,8 | 1.00 | False | nfcore_rnafusion | 1173_LAF_T1_RNA_SLD_01_A23T55JLT4_2 | BND | chr21 | chr21 | DYRK1A | ERG | 37420384 | 38445621 | chr21:37420384-chr21:38445621 | +,- | STAR-Fusion | 1 | 0 | 1 | 0.0125 | 1 | FAIL | out-of-frame | DYRK1A--ERG | DYRK1A--ERG | ["INTRACHROMOSOMAL[chr21:0.85Mb]"] | ONLY_REF_SPLICE | NO_LDAS | 1.8892 | False | False | False | GT | AG | 1 | False | Read count too low: 1 < 8 | 0 | ENST00000398956.2 | 1-10 | ENST00000417133.6 | 40-1461 | 0.0125 | FAIL | atgcatacagGAAGCCTTATCAGTTGTGAGTGAGGACCAGTCGTTGTTTGAGTGTGCCTACGGAACGCCACACCTGGCTAAGACAGAGATGACCGCGTCCTCCTCCAGCGACTATGGACAGACTTCCAAGATGAGCCCACGCGTCCCTCAGCAGGATTGGCTGTCTCAACCCCCAGCCAGGGTCACCATCAAAATGGAATGTAACCCTAGCCAGGTGAATGGCTCAAGGAACTCTCCTGATGAATGCAGTGTGGCCAAAGGCGGGAAGATGGTGGGCAGCCCAGACACCGTTGGGATGAACTACGGCAGCTACATGGAGGAGAAGCACATGCCACCCCCAAACATGACCACGAACGAGCGCAGAGTTATCGTGCCAGCAGATCCTACGCTATGGAGTACAGACCATGTGCGGCAGTGGCTGGAGTGGGCGGTGAAAGAATATGGCCTTCCAGACGTCAACATCTTGTTATTCCAGAACATCGATGGGAAGGAACTGTGCAAGATGACCAAGGACGACTTCCAGAGGCTCACCCCCAGCTACAACGCCGACATCCTTCTCTCACATCTCCACTACCTCAGAGAGACTCCTCTTCCACATTTGACTTCAGATGATGTTGATAAAGCCTTACAAAACTCTCCACGGTTAATGCATGCTAGAAACACAGGGGGTGCAGCTTTTATTTTCCCAAATACTTCAGTATATCCTGAAGCTACGCAAAGAATTACAACTAGGCCAGATTTACCATATGAGCCCCCCAGGAGATCAGCCTGGACCGGTCACGGCCACCCCACGCCCCAGTCGAAAGCTGCTCAACCATCTCCTTCCACAGTGCCCAAAACTGAAGACCAGCGTCCTCAGTTAGATCCTTATCAGATTCTTGGACCAACAAGTAGCCGCCTTGCAAATCCAGGCAGTGGCCAGATCCAGCTTTGGCAGTTCCTCCTGGAGCTCCTGTCGGACAGCTCCAACTCCAGCTGCATCACCTGGGAAGGCACCAACGGGGAGTTCAAGATGACGGATCCCGACGAGGTGGCCCGGCGCTGGGGAGAGCGGAAGAGCAAACCCAACATGAACTACGATAAGCTCAGCCGCGCCCTCCGTTACTACTATGACAAGAACATCATGACCAAGGTCCATGGGAAGCGCTACGCCTACAAGTTCGACTTCCACGGGATCGCCCAGGCCCTCCAGCCCCACCCCCCGGAGTCATCTCTGTACAAGTACCCCTCAGACCTCCCGTACATGGGCTCCTATCACGCCCACCCACAGAAGATGAACTTTGTGGCGCCCCACCCTCCAGCCCTCCCCGTGACATCTTCCAGTTTTTTTGCTGCCCCAAACCCATACTGGAATTCACCAACTGGGGGTATATACCCCAACACTAGGCTCCCCACCAGCCATATGCCTTCTCATCTGGGCACTTACTACTAA | chr21|+|[0]37420375-37420384[0]<==>chr21|-|[2]38383403-38383923[1]|[0]38390995-38391042[1]|[0]38391659-38391715[1]|[0]38392376-38392444[1]|[0]38400574-38400645[1]|[0]38402557-38402637[1]|[0]38403506-38403709[1]|[0]38423410-38423561[2]|[1]38445404-38445621[0] | MHTGSLISCE*GPVVV*VCLRNATPG*DRDDRVLLQRLWTDFQDEPTRPSAGLAVSTPSQGHHQNGM*P*PGEWLKELS**MQCGQRREDGGQPRHRWDELRQLHGGEAHATPKHDHERAQSYRASRSYAMEYRPCAAVAGVGGERIWPSRRQHLVIPEHRWEGTVQDDQGRLPEAHPQLQRRHPSLTSPLPQRDSSSTFDFR*C**SLTKLSTVNAC*KHRGCSFYFPKYFSIS*SYAKNYN*ARFTI*APQEISLDRSRPPHAPVESCSTISFHSAQN*RPASSVRSLSDSWTNK*PPCKSRQWPDPALAVPPGAPVGQLQLQLHHLGRHQRGVQDDGSRRGGPALGRAEEQTQHELR*AQPRPPLLL*QEHHDQGPWEALRLQVRLPRDRPGPPAPPPGVISVQVPLRPPVHGLLSRPPTEDELCGAPPSSPPRDIFQFFCCPKPILEFTNWGYIPQH*APHQPYAFSSGHLLL | DYRK1A--ERG | 1 | LH00995:25:23T55JLT4:1:1172:37526:14073 | NO_LDAS | GT | 1.8892 | chr21:37420384:+ | DYRK1A^ENSG00000157540.22 | . | SAM_PNT|123-204|1.4e-29^Arb2|138-171|4e-05^SAM_1|141-186|4e-05^SAM_3|143-200|1.3e-05^Ets|319-397|1.2e-38 | FRAMESHIFT | AG | 1.9656 | chr21:38445621:- | ERG^ENSG00000157554.19 | 0 | . | ONLY_REF_SPLICE | ["INTRACHROMOSOMAL[chr21:0.85Mb]"] | False | chr21:37420384-chr21:38445621 | 1.0 | 0.0 | Read count too low: 1 < 8 | 1 | 1173_LAF | STAR-Fusion | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| fp_audit | 1173_LAF | fusion | DYRK1A--ERG | DYRK1A--ERG | DYRK1A--ERG | FP | FP | Arriba | dev_rna_exp0016 | 1173_LAF | altera_exact | 1173 | clinical | patient | lung | Lung | 46 | unknown | False | 1173_LAF_T1_RNA_SLD_01 | tRNA | altera_inhouse | ssf | 24.10 | 38.00 | 27.34 | AIH_Ext13_RNA | A03 | False | dev_rna_exp0016_lib_s33 | 200.00 | 36.67 | dev_rna_exp0016 | A05 | False | 1173_LAF_T1_RNA_SLD_01_A23T55JLT4_1 | dev_rna_exp0016 | 1,2,3,4,5,6,7,8 | 1.00 | False | nfcore_rnafusion | 1173_LAF_T1_RNA_SLD_01_A23T55JLT4_2 | BND | chr21 | chr21 | DYRK1A | ERG | 37366943 | 38445621 | chr21:37366943-chr21:38445621 | +,- | STAR-Fusion | 1 | 0 | 1 | 0.0125 | 1 | FAIL | DYRK1A--ERG | DYRK1A--ERG | ["INTRACHROMOSOMAL[chr21:0.85Mb]"] | INCL_NON_REF_SPLICE | YES_LDAS | 1.8323 | False | False | False | GT | AG | 1 | Read count too low: 1 < 8 | 0 | . | . | . | . | 0.0125 | FAIL | . | . | . | DYRK1A--ERG | 1 | LH00995:25:23T55JLT4:1:2197:16055:5218 | YES_LDAS | GT | 1.8323 | chr21:37366943:+ | DYRK1A^ENSG00000157540.22 | . | . | . | AG | 1.9656 | chr21:38445621:- | ERG^ENSG00000157554.19 | 0 | . | INCL_NON_REF_SPLICE | ["INTRACHROMOSOMAL[chr21:0.85Mb]"] | False | chr21:37366943-chr21:38445621 | 1.0 | 0.0 | Read count too low: 1 < 8 | 1 | 1173_LAF | STAR-Fusion | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| fp_audit | 1173_M4Y | fusion | ERBB2--PPP1R1B | ERBB2--PPP1R1B | ERBB2--PPP1R1B | FP | FP | Arriba; STAR-Fusion | dev_rna_exp0016 | 1173_M4Y | altera_exact | 1173 | clinical | patient | esophageal | Esophageal | 63 | unknown | False | 1173_M4Y_T1_RNA_SLD_01 | tRNA | altera_inhouse | ssf | 25.30 | 38.00 | 30.69 | AIH_Ext13_RNA | F04 | False | dev_rna_exp0016_lib_s46 | 200.00 | 13.52 | dev_rna_exp0016 | F06 | False | 1173_M4Y_T1_RNA_SLD_01_A23T55JLT4_1 | dev_rna_exp0016 | 1,2,3,4,5,6,7,8 | 1.00 | False | nfcore_rnafusion | 1173_M4Y_T1_RNA_SLD_01_A23T55JLT4_1 | BND | chr17 | chr17 | ERBB2 | PPP1R1B | 39715510 | 39627306 | chr17:39715510-chr17:39627306 | +,+ | STAR-Fusion | 1 | 0 | 2334 | 15.7762 | 2334 | PASS | ERBB2--PPP1R1B | ERBB2--PPP1R1B | ["GUO2018CR_TCGA","DEEPEST2019","TumorFusionsNAR2018","ChimerSeq","TCGA_StarF2019","INTRACHROMOSOMAL[chr17:0.05Mb]","LOCAL_REARRANGEMENT:+:[51288]"] | INCL_NON_REF_SPLICE | YES_LDAS | 1.231 | False | False | False | GT | AG | 2334 | TCGA_StarF2019;ChimerSeq;DEEPEST2019;GUO2018;TumorFusionsNAR2018 | 1 | . | . | . | . | 15.7762 | PASS | . | . | . | ERBB2--PPP1R1B | 2334 | 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5:25:23T55JLT4:8:1240:12714:3186,LH00995:25:23T55JLT4:8:1240:48982:21360,LH00995:25:23T55JLT4:8:1244:42987:25213,LH00995:25:23T55JLT4:8:1248:14470:21752,LH00995:25:23T55JLT4:8:1256:8038:10865,LH00995:25:23T55JLT4:8:1263:1267:18613,LH00995:25:23T55JLT4:8:1276:34428:16189,LH00995:25:23T55JLT4:8:1315:17115:24260,LH00995:25:23T55JLT4:8:1316:37640:21136,LH00995:25:23T55JLT4:8:1324:44751:10248,LH00995:25:23T55JLT4:8:1340:47566:5092,LH00995:25:23T55JLT4:8:1340:9567:29375,LH00995:25:23T55JLT4:8:1342:49435:21696,LH00995:25:23T55JLT4:8:1343:12860:15208,LH00995:25:23T55JLT4:8:1345:32769:4069,LH00995:25:23T55JLT4:8:1356:20853:18095,LH00995:25:23T55JLT4:8:1376:3670:2766,LH00995:25:23T55JLT4:8:1396:40916:3606,LH00995:25:23T55JLT4:8:1405:45204:13695,LH00995:25:23T55JLT4:8:1412:47121:7964,LH00995:25:23T55JLT4:8:1431:19162:8469,LH00995:25:23T55JLT4:8:1470:37559:17324,LH00995:25:23T55JLT4:8:1473:20125:27147,LH00995:25:23T55JLT4:8:1477:51482:10865,LH00995:25:23T55JLT4:8:1478:40617:11803,LH00995:25:23T55JLT4:8:1488:19089:20449,LH00995:25:23T55JLT4:8:2104:51198:29515,LH00995:25:23T55JLT4:8:2105:34485:29711,LH00995:25:23T55JLT4:8:2111:16072:11187,LH00995:25:23T55JLT4:8:2128:27017:27595,LH00995:25:23T55JLT4:8:2148:18418:9533,LH00995:25:23T55JLT4:8:2177:45026:22299,LH00995:25:23T55JLT4:8:2187:40617:1490,LH00995:25:23T55JLT4:8:2224:13378:8791,LH00995:25:23T55JLT4:8:2226:4260:21668,LH00995:25:23T55JLT4:8:2255:50122:6521,LH00995:25:23T55JLT4:8:2276:49459:13191,LH00995:25:23T55JLT4:8:2308:30140:29333,LH00995:25:23T55JLT4:8:2309:33554:15741,LH00995:25:23T55JLT4:8:2316:24566:21052,LH00995:25:23T55JLT4:8:2360:17771:29683,LH00995:25:23T55JLT4:8:2363:35836:17254,LH00995:25:23T55JLT4:8:2384:19211:27609,LH00995:25:23T55JLT4:8:2413:39395:15040,LH00995:25:23T55JLT4:8:2413:6016:12826,LH00995:25:23T55JLT4:8:2417:12213:13555,LH00995:25:23T55JLT4:8:2418:51271:22859,LH00995:25:23T55JLT4:8:2420:44290:15251,LH00995:25:23T55JLT4:8:2426:31702:22481,LH00995:25:23T55JLT4:8:2431:23701:21458,LH00995:25:23T55JLT4:8:2431:28182:14648,LH00995:25:23T55JLT4:8:2433:15246:5078,LH00995:25:23T55JLT4:8:2435:16387:28156,LH00995:25:23T55JLT4:8:2437:4657:21346,LH00995:25:23T55JLT4:8:2448:41256:1645,LH00995:25:23T55JLT4:8:2470:9729:9141,LH00995:25:23T55JLT4:8:2479:36321:29585 | YES_LDAS | GT | 1.9086 | chr17:39715510:+ | ERBB2^ENSG00000141736.14 | . | . | . | AG | 1.231 | chr17:39627306:+ | PPP1R1B^ENSG00000131771.14 | 0 | . | INCL_NON_REF_SPLICE | ["GUO2018CR_TCGA","DEEPEST2019","TumorFusionsNAR2018","ChimerSeq","TCGA_StarF2019","INTRACHROMOSOMAL[chr17:0.05Mb]","LOCAL_REARRANGEMENT:+:[51288]"] | False | chr17:39715510-chr17:39627306 | 2334.0 | 0.0 | 2334 | 1173_M4Y | STAR-Fusion | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| fp_audit | 1173_NWE | fusion | ETV4--RIN2 | RIN2--ETV4 | ETV4--RIN2 | FP | FP | Arriba; STAR-Fusion | dev_rna_exp0016 | 1173_NWE | altera_exact | 1173 | clinical | patient | ovary | Ovarian | 68 | unknown | False | 1173_NWE_T1_RNA_SLD_01 | tRNA | altera_inhouse | ssf | 15.00 | 35.00 | 58.41 | AIH_Ext12_RNA | F01 | False | dev_rna_exp0016_lib_s06 | 200.00 | 91.75 | dev_rna_exp0016 | F01 | False | 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_1 | dev_rna_exp0016 | 1,2,3,4,5,6,7,8 | 1.00 | False | nfcore_rnafusion | 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_1 | BND | chr20 | chr17 | RIN2 | ETV4 | 19889658 | 43545668 | chr20:19889658-chr17:43545668 | +,- | STAR-Fusion | 1 | 0 | 15 | 0.0507 | 15 | PASS | RIN2--ETV4 | ETV4--RIN2 | ["INTERCHROMOSOMAL[chr20--chr17]"] | ONLY_REF_SPLICE | YES_LDAS | 1.4566 | False | False | False | GT | AG | 15 | 1 | . | . | . | . | 0.0507 | PASS | . | . | . | RIN2--ETV4 | 15 | LH00995:25:23T55JLT4:2:1229:47882:5414,LH00995:25:23T55JLT4:2:2105:20044:13191,LH00995:25:23T55JLT4:2:2202:16460:11299,LH00995:25:23T55JLT4:5:1246:10190:11958,LH00995:25:23T55JLT4:5:1296:27171:18249,LH00995:25:23T55JLT4:5:1301:31936:12406,LH00995:25:23T55JLT4:5:1301:47437:16329,LH00995:25:23T55JLT4:5:2487:46531:21122,LH00995:25:23T55JLT4:6:1469:3427:16750,LH00995:25:23T55JLT4:8:1175:26864:9057,LH00995:25:23T55JLT4:8:1297:31944:19734,LH00995:25:23T55JLT4:8:1448:50551:22593,LH00995:25:23T55JLT4:8:1465:19906:22845,LH00995:25:23T55JLT4:8:2147:4519:8805,LH00995:25:23T55JLT4:8:2436:46611:23223 | YES_LDAS | GT | 1.8062 | chr20:19889658:+ | RIN2^ENSG00000132669.14 | . | . | . | AG | 1.4566 | chr17:43545668:- | ETV4^ENSG00000175832.13 | 0 | . | ONLY_REF_SPLICE | ["INTERCHROMOSOMAL[chr20--chr17]"] | False | chr20:19889658-chr17:43545668 | 15.0 | 0.0 | 15 | 1173_NWE | STAR-Fusion | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| fp_audit | 1173_NWE | fusion | ETV4--RIN2 | RIN2--ETV4 | ETV4--RIN2 | FP | FP | Arriba; STAR-Fusion | dev_rna_exp0016 | 1173_NWE | altera_exact | 1173 | clinical | patient | ovary | Ovarian | 68 | unknown | False | 1173_NWE_T1_RNA_SLD_01 | tRNA | altera_inhouse | ssf | 15.00 | 35.00 | 58.41 | AIH_Ext12_RNA | F01 | False | dev_rna_exp0016_lib_s06 | 200.00 | 91.75 | dev_rna_exp0016 | F01 | False | 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_1 | dev_rna_exp0016 | 1,2,3,4,5,6,7,8 | 1.00 | False | nfcore_rnafusion | 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_1 | BND | chr20 | chr17 | RIN2 | ETV4 | 19889658 | 43545367 | chr20:19889658-chr17:43545367 | +,- | STAR-Fusion | 1 | 0 | 7 | 0.0236 | 7 | FAIL | in-frame | RIN2--ETV4 | ETV4--RIN2 | ["INTERCHROMOSOMAL[chr20--chr17]"] | ONLY_REF_SPLICE | YES_LDAS | 1.8062 | False | False | False | GT | AG | 7 | True | Read count too low: 7 < 8 | 0 | ENST00000648440.1 | 1-57 | ENST00000393664.6 | 61-1455 | 0.0236 | FAIL | atgacagcttggaccatgggcgcccgcggtctggacaagcgaggaagtttctttaagAAATCGCCCGGAAATGGGAGCTTGCGCGAAGCGCTGATCGGCCCGCTGGGGAAGCTCATGGACCCGGGCTCCCTGCCGCCCCTCGACTCTGAAGATCTCTTCCAGGATCTAAGTCACTTCCAGGAGACGTGGCTCGCTGAAGCTCAGGTACCAGACAGTGATGAGCAGTTTGTTCCTGATTTCCATTCAGAAAACCTAGCTTTCCACAGCCCCACCACCAGGATCAAGAAGGAGCCCCAGAGTCCCCGCACAGACCCGGCCCTGTCCTGCAGCAGGAAGCCGCCACTCCCCTACCACCATGGCGAGCAGTGCCTTTACTCCAGTGCCTATGACCCCCCCAGACAAATCGCCATCAAGTCCCCTGCCCCTGGTGCCCTTGGACAGTCGCCCCTACAGCCCTTTCCCCGGGCAGAGCAACGGAATTTCCTGAGATCCTCTGGCACCTCCCAGCCCCACCCTGGCCATGGGTACCTCGGGGAACATAGCTCCGTCTTCCAGCAGCCCCTGGACATTTGCCACTCCTTCACATCTCAGGGAGGGGGCCGGGAACCCCTCCCAGCCCCCTACCAACACCAGCTGTCGGAGCCCTGCCCACCCTATCCCCAGCAGAGCTTTAAGCAAGAATACCATGATCCCCTGTATGAACAGGCGGGCCAGCCAGCCGTGGACCAGGGTGGGGTCAATGGGCACAGGTACCCAGGGGCGGGGGTGGTGATCAAACAGGAACAGACGGACTTCGCCTACGACTCAGATGTCACCGGGTGCGCATCAATGTACCTCCACACAGAGGGCTTCTCTGGGCCCTCTCCAGGTGACGGGGCCATGGGCTATGGCTATGAGAAACCTCTGCGACCATTCCCAGATGATGTCTGCGTTGTCCCTGAGAAATTTGAAGGAGACATCAAGCAGGAAGGGGTCGGTGCATTTCGAGAGGGGCCGCCCTACCAGCGCCGGGGTGCCCTGCAGCTGTGGCAATTTCTGGTGGCCTTGCTGGATGACCCAACAAATGCCCATTTCATTGCCTGGACGGGCCGGGGAATGGAGTTCAAGCTCATTGAGCCTGAGGAGGTCGCCAGGCTCTGGGGCATCCAGAAGAACCGGCCAGCCATGAATTACGACAAGCTGAGCCGCTCGCTCCGATACTATTATGAGAAAGGCATCATGCAGAAGGTGGCTGGTGAGCGTTACGTGTACAAGTTTGTGTGTGAGCCCGAGGCCCTCTTCTCTTTGGCCTTCCCGGACAATCAGCGTCCAGCTCTCAAGGCTGAGTTTGACCGGCCTGTCAGTGAGGAGGACACAGTCCCTTTGTCCCACTTGGATGAGAGCCCCGCCTACCTCCCAGAGCTGGCTGGCCCCGCCCAGCCATTTGGCCCCAAGGGTGGCTACTCTTACTAG | chr20|+|[0]19889602-19889658[2]<==>chr17|-|[2]43528519-43528743[0]|[2]43529135-43529236[0]|[2]43529504-43529676[1]|[0]43529884-43529952[1]|[0]43530107-43530181[1]|[0]43532674-43532939[2]|[1]43533187-43533348[2]|[1]43533859-43533985[1]|[0]43536426-43536479[1]|[0]43544975-43545022[1]|[0]43545274-43545367[0] | MTAWTMGARGLDKRGSFFKKSPGNGSLREALIGPLGKLMDPGSLPPLDSEDLFQDLSHFQETWLAEAQVPDSDEQFVPDFHSENLAFHSPTTRIKKEPQSPRTDPALSCSRKPPLPYHHGEQCLYSSAYDPPRQIAIKSPAPGALGQSPLQPFPRAEQRNFLRSSGTSQPHPGHGYLGEHSSVFQQPLDICHSFTSQGGGREPLPAPYQHQLSEPCPPYPQQSFKQEYHDPLYEQAGQPAVDQGGVNGHRYPGAGVVIKQEQTDFAYDSDVTGCASMYLHTEGFSGPSPGDGAMGYGYEKPLRPFPDDVCVVPEKFEGDIKQEGVGAFREGPPYQRRGALQLWQFLVALLDDPTNAHFIAWTGRGMEFKLIEPEEVARLWGIQKNRPAMNYDKLSRSLRYYYEKGIMQKVAGERYVYKFVCEPEALFSLAFPDNQRPALKAEFDRPVSEEDTVPLSHLDESPAYLPELAGPAQPFGPKGGYSY* | RIN2--ETV4 | 7 | LH00995:25:23T55JLT4:2:1214:23854:6731,LH00995:25:23T55JLT4:2:1364:2343:19216,LH00995:25:23T55JLT4:5:1108:1696:17647,LH00995:25:23T55JLT4:5:1309:31426:27749,LH00995:25:23T55JLT4:5:2291:36734:1546,LH00995:25:23T55JLT4:5:2354:12261:9884,LH00995:25:23T55JLT4:6:2365:37712:13583 | YES_LDAS | GT | 1.8062 | chr20:19889658:+ | RIN2^ENSG00000132669.14 | . | ETS_PEA3_N-PARTIAL|~61-339|5.9e-114^Ets|342-421|2.7e-38 | INFRAME | AG | 1.8892 | chr17:43545367:- | ETV4^ENSG00000175832.13 | 0 | . | ONLY_REF_SPLICE | ["INTERCHROMOSOMAL[chr20--chr17]"] | False | chr20:19889658-chr17:43545367 | 7.0 | 0.0 | Read count too low: 7 < 8 | 7 | 1173_NWE | STAR-Fusion | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| fp_audit | 1173_NWE | fusion | ETV4--RIN2 | RIN2--ETV4 | ETV4--RIN2 | FP | FP | Arriba; STAR-Fusion | dev_rna_exp0016 | 1173_NWE | altera_exact | 1173 | clinical | patient | ovary | Ovarian | 68 | unknown | False | 1173_NWE_T1_RNA_SLD_01 | tRNA | altera_inhouse | ssf | 15.00 | 35.00 | 58.41 | AIH_Ext12_RNA | F01 | False | dev_rna_exp0016_lib_s06 | 200.00 | 91.75 | dev_rna_exp0016 | F01 | False | 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_1 | dev_rna_exp0016 | 1,2,3,4,5,6,7,8 | 1.00 | False | nfcore_rnafusion | 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_1 | BND | chr20 | chr17 | RIN2 | ETV4 | 19889658 | 43536479 | chr20:19889658-chr17:43536479 | +,- | STAR-Fusion | 1 | 0 | 5 | 0.0169 | 5 | FAIL | out-of-frame | RIN2--ETV4 | ETV4--RIN2 | ["INTERCHROMOSOMAL[chr20--chr17]"] | ONLY_REF_SPLICE | YES_LDAS | 1.8062 | False | False | False | GT | AG | 5 | False | Read count too low: 5 < 8 | 0 | ENST00000648440.1 | 1-57 | ENST00000545954.5 | 86-1338 | 0.0169 | FAIL | atgacagcttggaccatgggcgcccgcggtctggacaagcgaggaagtttctttaagCTCAGGTACCAGACAGTGATGAGCAGTTTGTTCCTGATTTCCATTCAGAAAACCTAGCTTTCCACAGCCCCACCACCAGGATCAAGAAGGAGCCCCAGAGTCCCCGCACAGACCCGGCCCTGTCCTGCAGCAGGAAGCCGCCACTCCCCTACCACCATGGCGAGCAGTGCCTTTACTCCAGTGCCTATGACCCCCCCAGACAAATCGCCATCAAGTCCCCTGCCCCTGGTGCCCTTGGACAGTCGCCCCTACAGCCCTTTCCCCGGGCAGAGCAACGGAATTTCCTGAGATCCTCTGGCACCTCCCAGCCCCACCCTGGCCATGGGTACCTCGGGGAACATAGCTCCGTCTTCCAGCAGCCCCTGGACATTTGCCACTCCTTCACATCTCAGGGAGGGGGCCGGGAACCCCTCCCAGCCCCCTACCAACACCAGCTGTCGGAGCCCTGCCCACCCTATCCCCAGCAGAGCTTTAAGCAAGAATACCATGATCCCCTGTATGAACAGGCGGGCCAGCCAGCCGTGGACCAGGGTGGGGTCAATGGGCACAGGTACCCAGGGGCGGGGGTGGTGATCAAACAGGAACAGACGGACTTCGCCTACGACTCAGATGTCACCGGGTGCGCATCAATGTACCTCCACACAGAGGGCTTCTCTGGGCCCTCTCCAGGTGACGGGGCCATGGGCTATGGCTATGAGAAACCTCTGCGACCATTCCCAGATGATGTCTGCGTTGTCCCTGAGAAATTTGAAGGAGACATCAAGCAGGAAGGGGTCGGTGCATTTCGAGAGGGGCCGCCCTACCAGCGCCGGGGTGCCCTGCAGCTGTGGCAATTTCTGGTGGCCTTGCTGGATGACCCAACAAATGCCCATTTCATTGCCTGGACGGGCCGGGGAATGGAGTTCAAGCTCATTGAGCCTGAGGAGGTCGCCAGGCTCTGGGGCATCCAGAAGAACCGGCCAGCCATGAATTACGACAAGCTGAGCCGCTCGCTCCGATACTATTATGAGAAAGGCATCATGCAGAAGGTGGCTGGTGAGCGTTACGTGTACAAGTTTGTGTGTGAGCCCGAGGCCCTCTTCTCTTTGGCCTTCCCGGACAATCAGCGTCCAGCTCTCAAGGCTGAGTTTGACCGGCCTGTCAGTGAGGAGGACACAGTCCCTTTGTCCCACTTGGATGAGAGCCCCGCCTACCTCCCAGAGCTGGCTGGCCCCGCCCAGCCATTTGGCCCCAAGGGTGGCTACTCTTACTAG | chr20|+|[0]19889602-19889658[2]<==>chr17|-|[2]43528519-43528743[0]|[2]43529135-43529236[0]|[2]43529504-43529676[1]|[0]43529884-43529952[1]|[0]43530107-43530181[1]|[0]43532674-43532939[2]|[1]43533187-43533348[2]|[1]43533859-43533985[1]|[0]43536426-43536479[1] | MTAWTMGARGLDKRGSFFKLRYQTVMSSLFLISIQKT*LSTAPPPGSRRSPRVPAQTRPCPAAGSRHSPTTMASSAFTPVPMTPPDKSPSSPLPLVPLDSRPYSPFPGQSNGIS*DPLAPPSPTLAMGTSGNIAPSSSSPWTFATPSHLREGAGNPSQPPTNTSCRSPAHPIPSRALSKNTMIPCMNRRASQPWTRVGSMGTGTQGRGW*SNRNRRTSPTTQMSPGAHQCTSTQRASLGPLQVTGPWAMAMRNLCDHSQMMSALSLRNLKETSSRKGSVHFERGRPTSAGVPCSCGNFWWPCWMTQQMPISLPGRAGEWSSSSLSLRRSPGSGASRRTGQP*ITTS*AARSDTIMRKASCRRWLVSVTCTSLCVSPRPSSLWPSRTISVQLSRLSLTGLSVRRTQSLCPTWMRAPPTSQSWLAPPSHLAPRVATLT | RIN2--ETV4 | 5 | LH00995:25:23T55JLT4:2:1268:16606:29039,LH00995:25:23T55JLT4:2:1480:41159:21458,LH00995:25:23T55JLT4:5:1101:26233:7404,LH00995:25:23T55JLT4:5:1125:50697:7740,LH00995:25:23T55JLT4:6:2116:50292:27161 | YES_LDAS | GT | 1.8062 | chr20:19889658:+ | RIN2^ENSG00000132669.14 | . | ETS_PEA3_N-PARTIAL|~86-300|6.4e-103^Ets|303-382|3.6e-38^HSF_DNA-bind|308-363|6.1e-05 | FRAMESHIFT | AG | 1.9086 | chr17:43536479:- | ETV4^ENSG00000175832.13 | 0 | . | ONLY_REF_SPLICE | ["INTERCHROMOSOMAL[chr20--chr17]"] | False | chr20:19889658-chr17:43536479 | 5.0 | 0.0 | Read count too low: 5 < 8 | 5 | 1173_NWE | STAR-Fusion | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| fp_audit | 1173_NWE | fusion | ETV4--RIN2 | RIN2--ETV4 | ETV4--RIN2 | FP | FP | Arriba; STAR-Fusion | dev_rna_exp0016 | 1173_NWE | altera_exact | 1173 | clinical | patient | ovary | Ovarian | 68 | unknown | False | 1173_NWE_T1_RNA_SLD_01 | tRNA | altera_inhouse | ssf | 15.00 | 35.00 | 58.41 | AIH_Ext12_RNA | F01 | False | dev_rna_exp0016_lib_s06 | 200.00 | 91.75 | dev_rna_exp0016 | F01 | False | 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_1 | dev_rna_exp0016 | 1,2,3,4,5,6,7,8 | 1.00 | False | nfcore_rnafusion | 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_2 | BND | chr20 | chr17 | RIN2 | ETV4 | 19889658 | 43545668 | chr20:19889658-chr17:43545668 | +,- | STAR-Fusion | 1 | 0 | 21 | 0.0711 | 21 | PASS | RIN2--ETV4 | ETV4--RIN2 | ["INTERCHROMOSOMAL[chr20--chr17]"] | ONLY_REF_SPLICE | YES_LDAS | 1.4566 | False | False | False | GT | AG | 21 | 1 | . | . | . | . | 0.0711 | PASS | . | . | . | RIN2--ETV4 | 21 | LH00995:25:23T55JLT4:2:1316:8936:10598,LH00995:25:23T55JLT4:2:1422:48351:21696,LH00995:25:23T55JLT4:2:2143:5134:18445,LH00995:25:23T55JLT4:2:2366:21225:27651,LH00995:25:23T55JLT4:5:1118:26419:23728,LH00995:25:23T55JLT4:5:1121:36086:1322,LH00995:25:23T55JLT4:5:1235:24186:2569,LH00995:25:23T55JLT4:5:1277:3411:19833,LH00995:25:23T55JLT4:5:1338:39161:1855,LH00995:25:23T55JLT4:5:1341:34048:20463,LH00995:25:23T55JLT4:5:2148:9203:4727,LH00995:25:23T55JLT4:5:2360:20343:7880,LH00995:25:23T55JLT4:5:2487:1930:18950,LH00995:25:23T55JLT4:6:1471:30326:3985,LH00995:25:23T55JLT4:6:2308:51401:17002,LH00995:25:23T55JLT4:6:2375:19057:2541,LH00995:25:23T55JLT4:6:2467:50333:5652,LH00995:25:23T55JLT4:6:2473:15497:10921,LH00995:25:23T55JLT4:8:1110:8386:27021,LH00995:25:23T55JLT4:8:1188:31135:19650,LH00995:25:23T55JLT4:8:1395:30318:24401 | YES_LDAS | GT | 1.8062 | chr20:19889658:+ | RIN2^ENSG00000132669.14 | . | . | . | AG | 1.4566 | chr17:43545668:- | ETV4^ENSG00000175832.13 | 0 | . | ONLY_REF_SPLICE | ["INTERCHROMOSOMAL[chr20--chr17]"] | False | chr20:19889658-chr17:43545668 | 21.0 | 0.0 | 21 | 1173_NWE | STAR-Fusion | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| fp_audit | 1173_NWE | fusion | ETV4--RIN2 | RIN2--ETV4 | ETV4--RIN2 | FP | FP | Arriba; STAR-Fusion | dev_rna_exp0016 | 1173_NWE | altera_exact | 1173 | clinical | patient | ovary | Ovarian | 68 | unknown | False | 1173_NWE_T1_RNA_SLD_01 | tRNA | altera_inhouse | ssf | 15.00 | 35.00 | 58.41 | AIH_Ext12_RNA | F01 | False | dev_rna_exp0016_lib_s06 | 200.00 | 91.75 | dev_rna_exp0016 | F01 | False | 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_1 | dev_rna_exp0016 | 1,2,3,4,5,6,7,8 | 1.00 | False | nfcore_rnafusion | 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_2 | BND | chr20 | chr17 | RIN2 | ETV4 | 19889658 | 43545367 | chr20:19889658-chr17:43545367 | +,- | STAR-Fusion | 1 | 0 | 9 | 0.0305 | 9 | PASS | in-frame | RIN2--ETV4 | ETV4--RIN2 | ["INTERCHROMOSOMAL[chr20--chr17]"] | ONLY_REF_SPLICE | YES_LDAS | 1.8062 | False | False | False | GT | AG | 9 | True | 1 | ENST00000648440.1 | 1-57 | ENST00000393664.6 | 61-1455 | 0.0305 | PASS | atgacagcttggaccatgggcgcccgcggtctggacaagcgaggaagtttctttaagAAATCGCCCGGAAATGGGAGCTTGCGCGAAGCGCTGATCGGCCCGCTGGGGAAGCTCATGGACCCGGGCTCCCTGCCGCCCCTCGACTCTGAAGATCTCTTCCAGGATCTAAGTCACTTCCAGGAGACGTGGCTCGCTGAAGCTCAGGTACCAGACAGTGATGAGCAGTTTGTTCCTGATTTCCATTCAGAAAACCTAGCTTTCCACAGCCCCACCACCAGGATCAAGAAGGAGCCCCAGAGTCCCCGCACAGACCCGGCCCTGTCCTGCAGCAGGAAGCCGCCACTCCCCTACCACCATGGCGAGCAGTGCCTTTACTCCAGTGCCTATGACCCCCCCAGACAAATCGCCATCAAGTCCCCTGCCCCTGGTGCCCTTGGACAGTCGCCCCTACAGCCCTTTCCCCGGGCAGAGCAACGGAATTTCCTGAGATCCTCTGGCACCTCCCAGCCCCACCCTGGCCATGGGTACCTCGGGGAACATAGCTCCGTCTTCCAGCAGCCCCTGGACATTTGCCACTCCTTCACATCTCAGGGAGGGGGCCGGGAACCCCTCCCAGCCCCCTACCAACACCAGCTGTCGGAGCCCTGCCCACCCTATCCCCAGCAGAGCTTTAAGCAAGAATACCATGATCCCCTGTATGAACAGGCGGGCCAGCCAGCCGTGGACCAGGGTGGGGTCAATGGGCACAGGTACCCAGGGGCGGGGGTGGTGATCAAACAGGAACAGACGGACTTCGCCTACGACTCAGATGTCACCGGGTGCGCATCAATGTACCTCCACACAGAGGGCTTCTCTGGGCCCTCTCCAGGTGACGGGGCCATGGGCTATGGCTATGAGAAACCTCTGCGACCATTCCCAGATGATGTCTGCGTTGTCCCTGAGAAATTTGAAGGAGACATCAAGCAGGAAGGGGTCGGTGCATTTCGAGAGGGGCCGCCCTACCAGCGCCGGGGTGCCCTGCAGCTGTGGCAATTTCTGGTGGCCTTGCTGGATGACCCAACAAATGCCCATTTCATTGCCTGGACGGGCCGGGGAATGGAGTTCAAGCTCATTGAGCCTGAGGAGGTCGCCAGGCTCTGGGGCATCCAGAAGAACCGGCCAGCCATGAATTACGACAAGCTGAGCCGCTCGCTCCGATACTATTATGAGAAAGGCATCATGCAGAAGGTGGCTGGTGAGCGTTACGTGTACAAGTTTGTGTGTGAGCCCGAGGCCCTCTTCTCTTTGGCCTTCCCGGACAATCAGCGTCCAGCTCTCAAGGCTGAGTTTGACCGGCCTGTCAGTGAGGAGGACACAGTCCCTTTGTCCCACTTGGATGAGAGCCCCGCCTACCTCCCAGAGCTGGCTGGCCCCGCCCAGCCATTTGGCCCCAAGGGTGGCTACTCTTACTAG | chr20|+|[0]19889602-19889658[2]<==>chr17|-|[2]43528519-43528743[0]|[2]43529135-43529236[0]|[2]43529504-43529676[1]|[0]43529884-43529952[1]|[0]43530107-43530181[1]|[0]43532674-43532939[2]|[1]43533187-43533348[2]|[1]43533859-43533985[1]|[0]43536426-43536479[1]|[0]43544975-43545022[1]|[0]43545274-43545367[0] | MTAWTMGARGLDKRGSFFKKSPGNGSLREALIGPLGKLMDPGSLPPLDSEDLFQDLSHFQETWLAEAQVPDSDEQFVPDFHSENLAFHSPTTRIKKEPQSPRTDPALSCSRKPPLPYHHGEQCLYSSAYDPPRQIAIKSPAPGALGQSPLQPFPRAEQRNFLRSSGTSQPHPGHGYLGEHSSVFQQPLDICHSFTSQGGGREPLPAPYQHQLSEPCPPYPQQSFKQEYHDPLYEQAGQPAVDQGGVNGHRYPGAGVVIKQEQTDFAYDSDVTGCASMYLHTEGFSGPSPGDGAMGYGYEKPLRPFPDDVCVVPEKFEGDIKQEGVGAFREGPPYQRRGALQLWQFLVALLDDPTNAHFIAWTGRGMEFKLIEPEEVARLWGIQKNRPAMNYDKLSRSLRYYYEKGIMQKVAGERYVYKFVCEPEALFSLAFPDNQRPALKAEFDRPVSEEDTVPLSHLDESPAYLPELAGPAQPFGPKGGYSY* | RIN2--ETV4 | 9 | LH00995:25:23T55JLT4:2:1146:26896:6395,LH00995:25:23T55JLT4:5:1282:16776:17787,LH00995:25:23T55JLT4:5:2168:10093:10304,LH00995:25:23T55JLT4:5:2372:23660:22145,LH00995:25:23T55JLT4:6:1123:44492:3270,LH00995:25:23T55JLT4:6:1203:43481:13345,LH00995:25:23T55JLT4:6:2108:27875:27539,LH00995:25:23T55JLT4:6:2265:46757:3830,LH00995:25:23T55JLT4:8:2382:8273:29599 | YES_LDAS | GT | 1.8062 | chr20:19889658:+ | RIN2^ENSG00000132669.14 | . | ETS_PEA3_N-PARTIAL|~61-339|5.9e-114^Ets|342-421|2.7e-38 | INFRAME | AG | 1.8892 | chr17:43545367:- | ETV4^ENSG00000175832.13 | 0 | . | ONLY_REF_SPLICE | ["INTERCHROMOSOMAL[chr20--chr17]"] | False | chr20:19889658-chr17:43545367 | 9.0 | 0.0 | 9 | 1173_NWE | STAR-Fusion | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| fp_audit | 1173_NWE | fusion | ETV4--RIN2 | RIN2--ETV4 | ETV4--RIN2 | FP | FP | Arriba; STAR-Fusion | dev_rna_exp0016 | 1173_NWE | altera_exact | 1173 | clinical | patient | ovary | Ovarian | 68 | unknown | False | 1173_NWE_T1_RNA_SLD_01 | tRNA | altera_inhouse | ssf | 15.00 | 35.00 | 58.41 | AIH_Ext12_RNA | F01 | False | dev_rna_exp0016_lib_s06 | 200.00 | 91.75 | dev_rna_exp0016 | F01 | False | 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_1 | dev_rna_exp0016 | 1,2,3,4,5,6,7,8 | 1.00 | False | nfcore_rnafusion | 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_2 | BND | chr20 | chr17 | RIN2 | ETV4 | 19889658 | 43545668 | chr20:19889658-chr17:43545668 | +,- | STAR-Fusion | 1 | 0 | 21 | 0.0711 | 21 | PASS | RIN2--ETV4 | ETV4--RIN2 | ["INTERCHROMOSOMAL[chr20--chr17]"] | ONLY_REF_SPLICE | YES_LDAS | 1.4566 | False | False | False | GT | AG | 21 | 1 | . | . | . | . | 0.0711 | PASS | . | . | . | RIN2--ETV4 | 21 | LH00995:25:23T55JLT4:2:1316:8936:10598,LH00995:25:23T55JLT4:2:1422:48351:21696,LH00995:25:23T55JLT4:2:2143:5134:18445,LH00995:25:23T55JLT4:2:2366:21225:27651,LH00995:25:23T55JLT4:5:1118:26419:23728,LH00995:25:23T55JLT4:5:1121:36086:1322,LH00995:25:23T55JLT4:5:1235:24186:2569,LH00995:25:23T55JLT4:5:1277:3411:19833,LH00995:25:23T55JLT4:5:1338:39161:1855,LH00995:25:23T55JLT4:5:1341:34048:20463,LH00995:25:23T55JLT4:5:2148:9203:4727,LH00995:25:23T55JLT4:5:2360:20343:7880,LH00995:25:23T55JLT4:5:2487:1930:18950,LH00995:25:23T55JLT4:6:1471:30326:3985,LH00995:25:23T55JLT4:6:2308:51401:17002,LH00995:25:23T55JLT4:6:2375:19057:2541,LH00995:25:23T55JLT4:6:2467:50333:5652,LH00995:25:23T55JLT4:6:2473:15497:10921,LH00995:25:23T55JLT4:8:1110:8386:27021,LH00995:25:23T55JLT4:8:1188:31135:19650,LH00995:25:23T55JLT4:8:1395:30318:24401 | YES_LDAS | GT | 1.8062 | chr20:19889658:+ | RIN2^ENSG00000132669.14 | . | . | . | AG | 1.4566 | chr17:43545668:- | ETV4^ENSG00000175832.13 | 0 | . | ONLY_REF_SPLICE | ["INTERCHROMOSOMAL[chr20--chr17]"] | False | chr20:19889658-chr17:43545668 | 21.0 | 0.0 | 21 | 1173_NWE | STAR-Fusion | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| fp_audit | 1173_NWE | fusion | ETV4--RIN2 | RIN2--ETV4 | ETV4--RIN2 | FP | FP | Arriba; STAR-Fusion | dev_rna_exp0016 | 1173_NWE | altera_exact | 1173 | clinical | patient | ovary | Ovarian | 68 | unknown | False | 1173_NWE_T1_RNA_SLD_01 | tRNA | altera_inhouse | ssf | 15.00 | 35.00 | 58.41 | AIH_Ext12_RNA | F01 | False | dev_rna_exp0016_lib_s06 | 200.00 | 91.75 | dev_rna_exp0016 | F01 | False | 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_1 | dev_rna_exp0016 | 1,2,3,4,5,6,7,8 | 1.00 | False | nfcore_rnafusion | 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_2 | BND | chr20 | chr17 | RIN2 | ETV4 | 19889658 | 43545367 | chr20:19889658-chr17:43545367 | +,- | STAR-Fusion | 1 | 0 | 9 | 0.0305 | 9 | PASS | in-frame | RIN2--ETV4 | ETV4--RIN2 | ["INTERCHROMOSOMAL[chr20--chr17]"] | ONLY_REF_SPLICE | YES_LDAS | 1.8062 | False | False | False | GT | AG | 9 | True | 1 | ENST00000648440.1 | 1-57 | ENST00000393664.6 | 61-1455 | 0.0305 | PASS | atgacagcttggaccatgggcgcccgcggtctggacaagcgaggaagtttctttaagAAATCGCCCGGAAATGGGAGCTTGCGCGAAGCGCTGATCGGCCCGCTGGGGAAGCTCATGGACCCGGGCTCCCTGCCGCCCCTCGACTCTGAAGATCTCTTCCAGGATCTAAGTCACTTCCAGGAGACGTGGCTCGCTGAAGCTCAGGTACCAGACAGTGATGAGCAGTTTGTTCCTGATTTCCATTCAGAAAACCTAGCTTTCCACAGCCCCACCACCAGGATCAAGAAGGAGCCCCAGAGTCCCCGCACAGACCCGGCCCTGTCCTGCAGCAGGAAGCCGCCACTCCCCTACCACCATGGCGAGCAGTGCCTTTACTCCAGTGCCTATGACCCCCCCAGACAAATCGCCATCAAGTCCCCTGCCCCTGGTGCCCTTGGACAGTCGCCCCTACAGCCCTTTCCCCGGGCAGAGCAACGGAATTTCCTGAGATCCTCTGGCACCTCCCAGCCCCACCCTGGCCATGGGTACCTCGGGGAACATAGCTCCGTCTTCCAGCAGCCCCTGGACATTTGCCACTCCTTCACATCTCAGGGAGGGGGCCGGGAACCCCTCCCAGCCCCCTACCAACACCAGCTGTCGGAGCCCTGCCCACCCTATCCCCAGCAGAGCTTTAAGCAAGAATACCATGATCCCCTGTATGAACAGGCGGGCCAGCCAGCCGTGGACCAGGGTGGGGTCAATGGGCACAGGTACCCAGGGGCGGGGGTGGTGATCAAACAGGAACAGACGGACTTCGCCTACGACTCAGATGTCACCGGGTGCGCATCAATGTACCTCCACACAGAGGGCTTCTCTGGGCCCTCTCCAGGTGACGGGGCCATGGGCTATGGCTATGAGAAACCTCTGCGACCATTCCCAGATGATGTCTGCGTTGTCCCTGAGAAATTTGAAGGAGACATCAAGCAGGAAGGGGTCGGTGCATTTCGAGAGGGGCCGCCCTACCAGCGCCGGGGTGCCCTGCAGCTGTGGCAATTTCTGGTGGCCTTGCTGGATGACCCAACAAATGCCCATTTCATTGCCTGGACGGGCCGGGGAATGGAGTTCAAGCTCATTGAGCCTGAGGAGGTCGCCAGGCTCTGGGGCATCCAGAAGAACCGGCCAGCCATGAATTACGACAAGCTGAGCCGCTCGCTCCGATACTATTATGAGAAAGGCATCATGCAGAAGGTGGCTGGTGAGCGTTACGTGTACAAGTTTGTGTGTGAGCCCGAGGCCCTCTTCTCTTTGGCCTTCCCGGACAATCAGCGTCCAGCTCTCAAGGCTGAGTTTGACCGGCCTGTCAGTGAGGAGGACACAGTCCCTTTGTCCCACTTGGATGAGAGCCCCGCCTACCTCCCAGAGCTGGCTGGCCCCGCCCAGCCATTTGGCCCCAAGGGTGGCTACTCTTACTAG | chr20|+|[0]19889602-19889658[2]<==>chr17|-|[2]43528519-43528743[0]|[2]43529135-43529236[0]|[2]43529504-43529676[1]|[0]43529884-43529952[1]|[0]43530107-43530181[1]|[0]43532674-43532939[2]|[1]43533187-43533348[2]|[1]43533859-43533985[1]|[0]43536426-43536479[1]|[0]43544975-43545022[1]|[0]43545274-43545367[0] | MTAWTMGARGLDKRGSFFKKSPGNGSLREALIGPLGKLMDPGSLPPLDSEDLFQDLSHFQETWLAEAQVPDSDEQFVPDFHSENLAFHSPTTRIKKEPQSPRTDPALSCSRKPPLPYHHGEQCLYSSAYDPPRQIAIKSPAPGALGQSPLQPFPRAEQRNFLRSSGTSQPHPGHGYLGEHSSVFQQPLDICHSFTSQGGGREPLPAPYQHQLSEPCPPYPQQSFKQEYHDPLYEQAGQPAVDQGGVNGHRYPGAGVVIKQEQTDFAYDSDVTGCASMYLHTEGFSGPSPGDGAMGYGYEKPLRPFPDDVCVVPEKFEGDIKQEGVGAFREGPPYQRRGALQLWQFLVALLDDPTNAHFIAWTGRGMEFKLIEPEEVARLWGIQKNRPAMNYDKLSRSLRYYYEKGIMQKVAGERYVYKFVCEPEALFSLAFPDNQRPALKAEFDRPVSEEDTVPLSHLDESPAYLPELAGPAQPFGPKGGYSY* | RIN2--ETV4 | 9 | LH00995:25:23T55JLT4:2:1146:26896:6395,LH00995:25:23T55JLT4:5:1282:16776:17787,LH00995:25:23T55JLT4:5:2168:10093:10304,LH00995:25:23T55JLT4:5:2372:23660:22145,LH00995:25:23T55JLT4:6:1123:44492:3270,LH00995:25:23T55JLT4:6:1203:43481:13345,LH00995:25:23T55JLT4:6:2108:27875:27539,LH00995:25:23T55JLT4:6:2265:46757:3830,LH00995:25:23T55JLT4:8:2382:8273:29599 | YES_LDAS | GT | 1.8062 | chr20:19889658:+ | RIN2^ENSG00000132669.14 | . | ETS_PEA3_N-PARTIAL|~61-339|5.9e-114^Ets|342-421|2.7e-38 | INFRAME | AG | 1.8892 | chr17:43545367:- | ETV4^ENSG00000175832.13 | 0 | . | ONLY_REF_SPLICE | ["INTERCHROMOSOMAL[chr20--chr17]"] | False | chr20:19889658-chr17:43545367 | 9.0 | 0.0 | 9 | 1173_NWE | STAR-Fusion | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| fp_audit | 1173_NWE | fusion | ETV4--RIN2 | RIN2--ETV4 | ETV4--RIN2 | FP | FP | Arriba; STAR-Fusion | dev_rna_exp0016 | 1173_NWE | altera_exact | 1173 | clinical | patient | ovary | Ovarian | 68 | unknown | False | 1173_NWE_T1_RNA_SLD_01 | tRNA | altera_inhouse | ssf | 15.00 | 35.00 | 58.41 | AIH_Ext12_RNA | F01 | False | dev_rna_exp0016_lib_s06 | 200.00 | 91.75 | dev_rna_exp0016 | F01 | False | 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_1 | dev_rna_exp0016 | 1,2,3,4,5,6,7,8 | 1.00 | False | nfcore_rnafusion | 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_1 | BND | chr20 | chr17 | RIN2 | ETV4 | 19889658 | 43545668 | chr20:19889658-chr17:43545668 | +,- | STAR-Fusion | 1 | 0 | 15 | 0.0507 | 15 | PASS | RIN2--ETV4 | ETV4--RIN2 | ["INTERCHROMOSOMAL[chr20--chr17]"] | ONLY_REF_SPLICE | YES_LDAS | 1.4566 | False | False | False | GT | AG | 15 | 1 | . | . | . | . | 0.0507 | PASS | . | . | . | RIN2--ETV4 | 15 | LH00995:25:23T55JLT4:2:1229:47882:5414,LH00995:25:23T55JLT4:2:2105:20044:13191,LH00995:25:23T55JLT4:2:2202:16460:11299,LH00995:25:23T55JLT4:5:1246:10190:11958,LH00995:25:23T55JLT4:5:1296:27171:18249,LH00995:25:23T55JLT4:5:1301:31936:12406,LH00995:25:23T55JLT4:5:1301:47437:16329,LH00995:25:23T55JLT4:5:2487:46531:21122,LH00995:25:23T55JLT4:6:1469:3427:16750,LH00995:25:23T55JLT4:8:1175:26864:9057,LH00995:25:23T55JLT4:8:1297:31944:19734,LH00995:25:23T55JLT4:8:1448:50551:22593,LH00995:25:23T55JLT4:8:1465:19906:22845,LH00995:25:23T55JLT4:8:2147:4519:8805,LH00995:25:23T55JLT4:8:2436:46611:23223 | YES_LDAS | GT | 1.8062 | chr20:19889658:+ | RIN2^ENSG00000132669.14 | . | . | . | AG | 1.4566 | chr17:43545668:- | ETV4^ENSG00000175832.13 | 0 | . | ONLY_REF_SPLICE | ["INTERCHROMOSOMAL[chr20--chr17]"] | False | chr20:19889658-chr17:43545668 | 15.0 | 0.0 | 15 | 1173_NWE | STAR-Fusion | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| fp_audit | 1173_NWE | fusion | ETV4--RIN2 | RIN2--ETV4 | ETV4--RIN2 | FP | FP | Arriba; STAR-Fusion | dev_rna_exp0016 | 1173_NWE | altera_exact | 1173 | clinical | patient | ovary | Ovarian | 68 | unknown | False | 1173_NWE_T1_RNA_SLD_01 | tRNA | altera_inhouse | ssf | 15.00 | 35.00 | 58.41 | AIH_Ext12_RNA | F01 | False | dev_rna_exp0016_lib_s06 | 200.00 | 91.75 | dev_rna_exp0016 | F01 | False | 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_1 | dev_rna_exp0016 | 1,2,3,4,5,6,7,8 | 1.00 | False | nfcore_rnafusion | 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_1 | BND | chr20 | chr17 | RIN2 | ETV4 | 19889658 | 43545367 | chr20:19889658-chr17:43545367 | +,- | STAR-Fusion | 1 | 0 | 7 | 0.0236 | 7 | FAIL | in-frame | RIN2--ETV4 | ETV4--RIN2 | ["INTERCHROMOSOMAL[chr20--chr17]"] | ONLY_REF_SPLICE | YES_LDAS | 1.8062 | False | False | False | GT | AG | 7 | True | Read count too low: 7 < 8 | 0 | ENST00000648440.1 | 1-57 | ENST00000393664.6 | 61-1455 | 0.0236 | FAIL | atgacagcttggaccatgggcgcccgcggtctggacaagcgaggaagtttctttaagAAATCGCCCGGAAATGGGAGCTTGCGCGAAGCGCTGATCGGCCCGCTGGGGAAGCTCATGGACCCGGGCTCCCTGCCGCCCCTCGACTCTGAAGATCTCTTCCAGGATCTAAGTCACTTCCAGGAGACGTGGCTCGCTGAAGCTCAGGTACCAGACAGTGATGAGCAGTTTGTTCCTGATTTCCATTCAGAAAACCTAGCTTTCCACAGCCCCACCACCAGGATCAAGAAGGAGCCCCAGAGTCCCCGCACAGACCCGGCCCTGTCCTGCAGCAGGAAGCCGCCACTCCCCTACCACCATGGCGAGCAGTGCCTTTACTCCAGTGCCTATGACCCCCCCAGACAAATCGCCATCAAGTCCCCTGCCCCTGGTGCCCTTGGACAGTCGCCCCTACAGCCCTTTCCCCGGGCAGAGCAACGGAATTTCCTGAGATCCTCTGGCACCTCCCAGCCCCACCCTGGCCATGGGTACCTCGGGGAACATAGCTCCGTCTTCCAGCAGCCCCTGGACATTTGCCACTCCTTCACATCTCAGGGAGGGGGCCGGGAACCCCTCCCAGCCCCCTACCAACACCAGCTGTCGGAGCCCTGCCCACCCTATCCCCAGCAGAGCTTTAAGCAAGAATACCATGATCCCCTGTATGAACAGGCGGGCCAGCCAGCCGTGGACCAGGGTGGGGTCAATGGGCACAGGTACCCAGGGGCGGGGGTGGTGATCAAACAGGAACAGACGGACTTCGCCTACGACTCAGATGTCACCGGGTGCGCATCAATGTACCTCCACACAGAGGGCTTCTCTGGGCCCTCTCCAGGTGACGGGGCCATGGGCTATGGCTATGAGAAACCTCTGCGACCATTCCCAGATGATGTCTGCGTTGTCCCTGAGAAATTTGAAGGAGACATCAAGCAGGAAGGGGTCGGTGCATTTCGAGAGGGGCCGCCCTACCAGCGCCGGGGTGCCCTGCAGCTGTGGCAATTTCTGGTGGCCTTGCTGGATGACCCAACAAATGCCCATTTCATTGCCTGGACGGGCCGGGGAATGGAGTTCAAGCTCATTGAGCCTGAGGAGGTCGCCAGGCTCTGGGGCATCCAGAAGAACCGGCCAGCCATGAATTACGACAAGCTGAGCCGCTCGCTCCGATACTATTATGAGAAAGGCATCATGCAGAAGGTGGCTGGTGAGCGTTACGTGTACAAGTTTGTGTGTGAGCCCGAGGCCCTCTTCTCTTTGGCCTTCCCGGACAATCAGCGTCCAGCTCTCAAGGCTGAGTTTGACCGGCCTGTCAGTGAGGAGGACACAGTCCCTTTGTCCCACTTGGATGAGAGCCCCGCCTACCTCCCAGAGCTGGCTGGCCCCGCCCAGCCATTTGGCCCCAAGGGTGGCTACTCTTACTAG | chr20|+|[0]19889602-19889658[2]<==>chr17|-|[2]43528519-43528743[0]|[2]43529135-43529236[0]|[2]43529504-43529676[1]|[0]43529884-43529952[1]|[0]43530107-43530181[1]|[0]43532674-43532939[2]|[1]43533187-43533348[2]|[1]43533859-43533985[1]|[0]43536426-43536479[1]|[0]43544975-43545022[1]|[0]43545274-43545367[0] | MTAWTMGARGLDKRGSFFKKSPGNGSLREALIGPLGKLMDPGSLPPLDSEDLFQDLSHFQETWLAEAQVPDSDEQFVPDFHSENLAFHSPTTRIKKEPQSPRTDPALSCSRKPPLPYHHGEQCLYSSAYDPPRQIAIKSPAPGALGQSPLQPFPRAEQRNFLRSSGTSQPHPGHGYLGEHSSVFQQPLDICHSFTSQGGGREPLPAPYQHQLSEPCPPYPQQSFKQEYHDPLYEQAGQPAVDQGGVNGHRYPGAGVVIKQEQTDFAYDSDVTGCASMYLHTEGFSGPSPGDGAMGYGYEKPLRPFPDDVCVVPEKFEGDIKQEGVGAFREGPPYQRRGALQLWQFLVALLDDPTNAHFIAWTGRGMEFKLIEPEEVARLWGIQKNRPAMNYDKLSRSLRYYYEKGIMQKVAGERYVYKFVCEPEALFSLAFPDNQRPALKAEFDRPVSEEDTVPLSHLDESPAYLPELAGPAQPFGPKGGYSY* | RIN2--ETV4 | 7 | LH00995:25:23T55JLT4:2:1214:23854:6731,LH00995:25:23T55JLT4:2:1364:2343:19216,LH00995:25:23T55JLT4:5:1108:1696:17647,LH00995:25:23T55JLT4:5:1309:31426:27749,LH00995:25:23T55JLT4:5:2291:36734:1546,LH00995:25:23T55JLT4:5:2354:12261:9884,LH00995:25:23T55JLT4:6:2365:37712:13583 | YES_LDAS | GT | 1.8062 | chr20:19889658:+ | RIN2^ENSG00000132669.14 | . | ETS_PEA3_N-PARTIAL|~61-339|5.9e-114^Ets|342-421|2.7e-38 | INFRAME | AG | 1.8892 | chr17:43545367:- | ETV4^ENSG00000175832.13 | 0 | . | ONLY_REF_SPLICE | ["INTERCHROMOSOMAL[chr20--chr17]"] | False | chr20:19889658-chr17:43545367 | 7.0 | 0.0 | Read count too low: 7 < 8 | 7 | 1173_NWE | STAR-Fusion | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| fp_audit | 1173_NWE | fusion | ETV4--RIN2 | RIN2--ETV4 | ETV4--RIN2 | FP | FP | Arriba; STAR-Fusion | dev_rna_exp0016 | 1173_NWE | altera_exact | 1173 | clinical | patient | ovary | Ovarian | 68 | unknown | False | 1173_NWE_T1_RNA_SLD_01 | tRNA | altera_inhouse | ssf | 15.00 | 35.00 | 58.41 | AIH_Ext12_RNA | F01 | False | dev_rna_exp0016_lib_s06 | 200.00 | 91.75 | dev_rna_exp0016 | F01 | False | 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_1 | dev_rna_exp0016 | 1,2,3,4,5,6,7,8 | 1.00 | False | nfcore_rnafusion | 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_1 | BND | chr20 | chr17 | RIN2 | ETV4 | 19889658 | 43536479 | chr20:19889658-chr17:43536479 | +,- | STAR-Fusion | 1 | 0 | 5 | 0.0169 | 5 | FAIL | out-of-frame | RIN2--ETV4 | ETV4--RIN2 | ["INTERCHROMOSOMAL[chr20--chr17]"] | ONLY_REF_SPLICE | YES_LDAS | 1.8062 | False | False | False | GT | AG | 5 | False | Read count too low: 5 < 8 | 0 | ENST00000648440.1 | 1-57 | ENST00000545954.5 | 86-1338 | 0.0169 | FAIL | atgacagcttggaccatgggcgcccgcggtctggacaagcgaggaagtttctttaagCTCAGGTACCAGACAGTGATGAGCAGTTTGTTCCTGATTTCCATTCAGAAAACCTAGCTTTCCACAGCCCCACCACCAGGATCAAGAAGGAGCCCCAGAGTCCCCGCACAGACCCGGCCCTGTCCTGCAGCAGGAAGCCGCCACTCCCCTACCACCATGGCGAGCAGTGCCTTTACTCCAGTGCCTATGACCCCCCCAGACAAATCGCCATCAAGTCCCCTGCCCCTGGTGCCCTTGGACAGTCGCCCCTACAGCCCTTTCCCCGGGCAGAGCAACGGAATTTCCTGAGATCCTCTGGCACCTCCCAGCCCCACCCTGGCCATGGGTACCTCGGGGAACATAGCTCCGTCTTCCAGCAGCCCCTGGACATTTGCCACTCCTTCACATCTCAGGGAGGGGGCCGGGAACCCCTCCCAGCCCCCTACCAACACCAGCTGTCGGAGCCCTGCCCACCCTATCCCCAGCAGAGCTTTAAGCAAGAATACCATGATCCCCTGTATGAACAGGCGGGCCAGCCAGCCGTGGACCAGGGTGGGGTCAATGGGCACAGGTACCCAGGGGCGGGGGTGGTGATCAAACAGGAACAGACGGACTTCGCCTACGACTCAGATGTCACCGGGTGCGCATCAATGTACCTCCACACAGAGGGCTTCTCTGGGCCCTCTCCAGGTGACGGGGCCATGGGCTATGGCTATGAGAAACCTCTGCGACCATTCCCAGATGATGTCTGCGTTGTCCCTGAGAAATTTGAAGGAGACATCAAGCAGGAAGGGGTCGGTGCATTTCGAGAGGGGCCGCCCTACCAGCGCCGGGGTGCCCTGCAGCTGTGGCAATTTCTGGTGGCCTTGCTGGATGACCCAACAAATGCCCATTTCATTGCCTGGACGGGCCGGGGAATGGAGTTCAAGCTCATTGAGCCTGAGGAGGTCGCCAGGCTCTGGGGCATCCAGAAGAACCGGCCAGCCATGAATTACGACAAGCTGAGCCGCTCGCTCCGATACTATTATGAGAAAGGCATCATGCAGAAGGTGGCTGGTGAGCGTTACGTGTACAAGTTTGTGTGTGAGCCCGAGGCCCTCTTCTCTTTGGCCTTCCCGGACAATCAGCGTCCAGCTCTCAAGGCTGAGTTTGACCGGCCTGTCAGTGAGGAGGACACAGTCCCTTTGTCCCACTTGGATGAGAGCCCCGCCTACCTCCCAGAGCTGGCTGGCCCCGCCCAGCCATTTGGCCCCAAGGGTGGCTACTCTTACTAG | chr20|+|[0]19889602-19889658[2]<==>chr17|-|[2]43528519-43528743[0]|[2]43529135-43529236[0]|[2]43529504-43529676[1]|[0]43529884-43529952[1]|[0]43530107-43530181[1]|[0]43532674-43532939[2]|[1]43533187-43533348[2]|[1]43533859-43533985[1]|[0]43536426-43536479[1] | MTAWTMGARGLDKRGSFFKLRYQTVMSSLFLISIQKT*LSTAPPPGSRRSPRVPAQTRPCPAAGSRHSPTTMASSAFTPVPMTPPDKSPSSPLPLVPLDSRPYSPFPGQSNGIS*DPLAPPSPTLAMGTSGNIAPSSSSPWTFATPSHLREGAGNPSQPPTNTSCRSPAHPIPSRALSKNTMIPCMNRRASQPWTRVGSMGTGTQGRGW*SNRNRRTSPTTQMSPGAHQCTSTQRASLGPLQVTGPWAMAMRNLCDHSQMMSALSLRNLKETSSRKGSVHFERGRPTSAGVPCSCGNFWWPCWMTQQMPISLPGRAGEWSSSSLSLRRSPGSGASRRTGQP*ITTS*AARSDTIMRKASCRRWLVSVTCTSLCVSPRPSSLWPSRTISVQLSRLSLTGLSVRRTQSLCPTWMRAPPTSQSWLAPPSHLAPRVATLT | RIN2--ETV4 | 5 | LH00995:25:23T55JLT4:2:1268:16606:29039,LH00995:25:23T55JLT4:2:1480:41159:21458,LH00995:25:23T55JLT4:5:1101:26233:7404,LH00995:25:23T55JLT4:5:1125:50697:7740,LH00995:25:23T55JLT4:6:2116:50292:27161 | YES_LDAS | GT | 1.8062 | chr20:19889658:+ | RIN2^ENSG00000132669.14 | . | ETS_PEA3_N-PARTIAL|~86-300|6.4e-103^Ets|303-382|3.6e-38^HSF_DNA-bind|308-363|6.1e-05 | FRAMESHIFT | AG | 1.9086 | chr17:43536479:- | ETV4^ENSG00000175832.13 | 0 | . | ONLY_REF_SPLICE | ["INTERCHROMOSOMAL[chr20--chr17]"] | False | chr20:19889658-chr17:43536479 | 5.0 | 0.0 | Read count too low: 5 < 8 | 5 | 1173_NWE | STAR-Fusion | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| fp_audit | 1173_NWE | fusion | ETV4--TMEM259 | TMEM259--ETV4 | ETV4--TMEM259 | FP | FP | Arriba; STAR-Fusion | dev_rna_exp0016 | 1173_NWE | altera_exact | 1173 | clinical | patient | ovary | Ovarian | 68 | unknown | False | 1173_NWE_T1_RNA_SLD_01 | tRNA | altera_inhouse | ssf | 15.00 | 35.00 | 58.41 | AIH_Ext12_RNA | F01 | False | dev_rna_exp0016_lib_s06 | 200.00 | 91.75 | dev_rna_exp0016 | F01 | False | 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_1 | dev_rna_exp0016 | 1,2,3,4,5,6,7,8 | 1.00 | False | nfcore_rnafusion | 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_1 | BND | chr19 | chr17 | TMEM259 | ETV4 | 1020772 | 43536479 | chr19:1020772-chr17:43536479 | -,- | STAR-Fusion | 1 | 0 | 10 | 0.0338 | 10 | PASS | out-of-frame | TMEM259--ETV4 | ETV4--TMEM259 | ["INTERCHROMOSOMAL[chr19--chr17]"] | ONLY_REF_SPLICE | YES_LDAS | 1.9086 | False | False | False | GT | AG | 10 | False | 1 | ENST00000593068.7 | 1-225 | ENST00000545954.5 | 86-1338 | 0.0338 | PASS | atgtcggagcacgtggagcccgcagctccggggcccgggcccaacggcggcggcggcggcccggcccccgcgcgcgggcctcgcacccccaatctcaaccccaaccccctcatcaacgtgcgcgaccggctcttccacgcgctgttcttcaagatggctgtcacctattcgcggctcttcccgcccgccttccgccgtctcttcgagttcttcgtgctgctcaagCTCAGGTACCAGACAGTGATGAGCAGTTTGTTCCTGATTTCCATTCAGAAAACCTAGCTTTCCACAGCCCCACCACCAGGATCAAGAAGGAGCCCCAGAGTCCCCGCACAGACCCGGCCCTGTCCTGCAGCAGGAAGCCGCCACTCCCCTACCACCATGGCGAGCAGTGCCTTTACTCCAGTGCCTATGACCCCCCCAGACAAATCGCCATCAAGTCCCCTGCCCCTGGTGCCCTTGGACAGTCGCCCCTACAGCCCTTTCCCCGGGCAGAGCAACGGAATTTCCTGAGATCCTCTGGCACCTCCCAGCCCCACCCTGGCCATGGGTACCTCGGGGAACATAGCTCCGTCTTCCAGCAGCCCCTGGACATTTGCCACTCCTTCACATCTCAGGGAGGGGGCCGGGAACCCCTCCCAGCCCCCTACCAACACCAGCTGTCGGAGCCCTGCCCACCCTATCCCCAGCAGAGCTTTAAGCAAGAATACCATGATCCCCTGTATGAACAGGCGGGCCAGCCAGCCGTGGACCAGGGTGGGGTCAATGGGCACAGGTACCCAGGGGCGGGGGTGGTGATCAAACAGGAACAGACGGACTTCGCCTACGACTCAGATGTCACCGGGTGCGCATCAATGTACCTCCACACAGAGGGCTTCTCTGGGCCCTCTCCAGGTGACGGGGCCATGGGCTATGGCTATGAGAAACCTCTGCGACCATTCCCAGATGATGTCTGCGTTGTCCCTGAGAAATTTGAAGGAGACATCAAGCAGGAAGGGGTCGGTGCATTTCGAGAGGGGCCGCCCTACCAGCGCCGGGGTGCCCTGCAGCTGTGGCAATTTCTGGTGGCCTTGCTGGATGACCCAACAAATGCCCATTTCATTGCCTGGACGGGCCGGGGAATGGAGTTCAAGCTCATTGAGCCTGAGGAGGTCGCCAGGCTCTGGGGCATCCAGAAGAACCGGCCAGCCATGAATTACGACAAGCTGAGCCGCTCGCTCCGATACTATTATGAGAAAGGCATCATGCAGAAGGTGGCTGGTGAGCGTTACGTGTACAAGTTTGTGTGTGAGCCCGAGGCCCTCTTCTCTTTGGCCTTCCCGGACAATCAGCGTCCAGCTCTCAAGGCTGAGTTTGACCGGCCTGTCAGTGAGGAGGACACAGTCCCTTTGTCCCACTTGGATGAGAGCCCCGCCTACCTCCCAGAGCTGGCTGGCCCCGCCCAGCCATTTGGCCCCAAGGGTGGCTACTCTTACTAG | chr19|-|[2]1020772-1020996[0]<==>chr17|-|[2]43528519-43528743[0]|[2]43529135-43529236[0]|[2]43529504-43529676[1]|[0]43529884-43529952[1]|[0]43530107-43530181[1]|[0]43532674-43532939[2]|[1]43533187-43533348[2]|[1]43533859-43533985[1]|[0]43536426-43536479[1] | MSEHVEPAAPGPGPNGGGGGPAPARGPRTPNLNPNPLINVRDRLFHALFFKMAVTYSRLFPPAFRRLFEFFVLLKLRYQTVMSSLFLISIQKT*LSTAPPPGSRRSPRVPAQTRPCPAAGSRHSPTTMASSAFTPVPMTPPDKSPSSPLPLVPLDSRPYSPFPGQSNGIS*DPLAPPSPTLAMGTSGNIAPSSSSPWTFATPSHLREGAGNPSQPPTNTSCRSPAHPIPSRALSKNTMIPCMNRRASQPWTRVGSMGTGTQGRGW*SNRNRRTSPTTQMSPGAHQCTSTQRASLGPLQVTGPWAMAMRNLCDHSQMMSALSLRNLKETSSRKGSVHFERGRPTSAGVPCSCGNFWWPCWMTQQMPISLPGRAGEWSSSSLSLRRSPGSGASRRTGQP*ITTS*AARSDTIMRKASCRRWLVSVTCTSLCVSPRPSSLWPSRTISVQLSRLSLTGLSVRRTQSLCPTWMRAPPTSQSWLAPPSHLAPRVATLT | TMEM259--ETV4 | 10 | LH00995:25:23T55JLT4:2:2146:16743:22859,LH00995:25:23T55JLT4:2:2180:49605:11117,LH00995:25:23T55JLT4:2:2191:3225:28366,LH00995:25:23T55JLT4:5:1266:5822:10416,LH00995:25:23T55JLT4:6:1278:11177:27679,LH00995:25:23T55JLT4:6:1439:49888:7320,LH00995:25:23T55JLT4:8:1256:39217:23588,LH00995:25:23T55JLT4:8:1320:5571:17044,LH00995:25:23T55JLT4:8:1344:50001:26488,LH00995:25:23T55JLT4:8:2474:30488:27273 | YES_LDAS | GT | 1.9329 | chr19:1020772:- | TMEM259^ENSG00000182087.14 | Membralin-PARTIAL|35-225~|3.1e-172 | ETS_PEA3_N-PARTIAL|~86-300|6.4e-103^Ets|303-382|3.6e-38^HSF_DNA-bind|308-363|6.1e-05 | FRAMESHIFT | AG | 1.9086 | chr17:43536479:- | ETV4^ENSG00000175832.13 | 0 | . | ONLY_REF_SPLICE | ["INTERCHROMOSOMAL[chr19--chr17]"] | False | chr19:1020772-chr17:43536479 | 10.0 | 0.0 | 10 | 1173_NWE | STAR-Fusion | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| fp_audit | 1173_NWE | fusion | ETV4--TMEM259 | TMEM259--ETV4 | ETV4--TMEM259 | FP | FP | Arriba; STAR-Fusion | dev_rna_exp0016 | 1173_NWE | altera_exact | 1173 | clinical | patient | ovary | Ovarian | 68 | unknown | False | 1173_NWE_T1_RNA_SLD_01 | tRNA | altera_inhouse | ssf | 15.00 | 35.00 | 58.41 | AIH_Ext12_RNA | F01 | False | dev_rna_exp0016_lib_s06 | 200.00 | 91.75 | dev_rna_exp0016 | F01 | False | 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_1 | dev_rna_exp0016 | 1,2,3,4,5,6,7,8 | 1.00 | False | nfcore_rnafusion | 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_2 | BND | chr19 | chr17 | TMEM259 | ETV4 | 1020772 | 43536479 | chr19:1020772-chr17:43536479 | -,- | STAR-Fusion | 1 | 0 | 9 | 0.0305 | 9 | PASS | out-of-frame | TMEM259--ETV4 | ETV4--TMEM259 | ["INTERCHROMOSOMAL[chr19--chr17]"] | ONLY_REF_SPLICE | YES_LDAS | 1.9086 | False | False | False | GT | AG | 9 | False | 1 | ENST00000593068.7 | 1-225 | ENST00000545954.5 | 86-1338 | 0.0305 | PASS | atgtcggagcacgtggagcccgcagctccggggcccgggcccaacggcggcggcggcggcccggcccccgcgcgcgggcctcgcacccccaatctcaaccccaaccccctcatcaacgtgcgcgaccggctcttccacgcgctgttcttcaagatggctgtcacctattcgcggctcttcccgcccgccttccgccgtctcttcgagttcttcgtgctgctcaagCTCAGGTACCAGACAGTGATGAGCAGTTTGTTCCTGATTTCCATTCAGAAAACCTAGCTTTCCACAGCCCCACCACCAGGATCAAGAAGGAGCCCCAGAGTCCCCGCACAGACCCGGCCCTGTCCTGCAGCAGGAAGCCGCCACTCCCCTACCACCATGGCGAGCAGTGCCTTTACTCCAGTGCCTATGACCCCCCCAGACAAATCGCCATCAAGTCCCCTGCCCCTGGTGCCCTTGGACAGTCGCCCCTACAGCCCTTTCCCCGGGCAGAGCAACGGAATTTCCTGAGATCCTCTGGCACCTCCCAGCCCCACCCTGGCCATGGGTACCTCGGGGAACATAGCTCCGTCTTCCAGCAGCCCCTGGACATTTGCCACTCCTTCACATCTCAGGGAGGGGGCCGGGAACCCCTCCCAGCCCCCTACCAACACCAGCTGTCGGAGCCCTGCCCACCCTATCCCCAGCAGAGCTTTAAGCAAGAATACCATGATCCCCTGTATGAACAGGCGGGCCAGCCAGCCGTGGACCAGGGTGGGGTCAATGGGCACAGGTACCCAGGGGCGGGGGTGGTGATCAAACAGGAACAGACGGACTTCGCCTACGACTCAGATGTCACCGGGTGCGCATCAATGTACCTCCACACAGAGGGCTTCTCTGGGCCCTCTCCAGGTGACGGGGCCATGGGCTATGGCTATGAGAAACCTCTGCGACCATTCCCAGATGATGTCTGCGTTGTCCCTGAGAAATTTGAAGGAGACATCAAGCAGGAAGGGGTCGGTGCATTTCGAGAGGGGCCGCCCTACCAGCGCCGGGGTGCCCTGCAGCTGTGGCAATTTCTGGTGGCCTTGCTGGATGACCCAACAAATGCCCATTTCATTGCCTGGACGGGCCGGGGAATGGAGTTCAAGCTCATTGAGCCTGAGGAGGTCGCCAGGCTCTGGGGCATCCAGAAGAACCGGCCAGCCATGAATTACGACAAGCTGAGCCGCTCGCTCCGATACTATTATGAGAAAGGCATCATGCAGAAGGTGGCTGGTGAGCGTTACGTGTACAAGTTTGTGTGTGAGCCCGAGGCCCTCTTCTCTTTGGCCTTCCCGGACAATCAGCGTCCAGCTCTCAAGGCTGAGTTTGACCGGCCTGTCAGTGAGGAGGACACAGTCCCTTTGTCCCACTTGGATGAGAGCCCCGCCTACCTCCCAGAGCTGGCTGGCCCCGCCCAGCCATTTGGCCCCAAGGGTGGCTACTCTTACTAG | chr19|-|[2]1020772-1020996[0]<==>chr17|-|[2]43528519-43528743[0]|[2]43529135-43529236[0]|[2]43529504-43529676[1]|[0]43529884-43529952[1]|[0]43530107-43530181[1]|[0]43532674-43532939[2]|[1]43533187-43533348[2]|[1]43533859-43533985[1]|[0]43536426-43536479[1] | MSEHVEPAAPGPGPNGGGGGPAPARGPRTPNLNPNPLINVRDRLFHALFFKMAVTYSRLFPPAFRRLFEFFVLLKLRYQTVMSSLFLISIQKT*LSTAPPPGSRRSPRVPAQTRPCPAAGSRHSPTTMASSAFTPVPMTPPDKSPSSPLPLVPLDSRPYSPFPGQSNGIS*DPLAPPSPTLAMGTSGNIAPSSSSPWTFATPSHLREGAGNPSQPPTNTSCRSPAHPIPSRALSKNTMIPCMNRRASQPWTRVGSMGTGTQGRGW*SNRNRRTSPTTQMSPGAHQCTSTQRASLGPLQVTGPWAMAMRNLCDHSQMMSALSLRNLKETSSRKGSVHFERGRPTSAGVPCSCGNFWWPCWMTQQMPISLPGRAGEWSSSSLSLRRSPGSGASRRTGQP*ITTS*AARSDTIMRKASCRRWLVSVTCTSLCVSPRPSSLWPSRTISVQLSRLSLTGLSVRRTQSLCPTWMRAPPTSQSWLAPPSHLAPRVATLT | TMEM259--ETV4 | 9 | LH00995:25:23T55JLT4:2:2208:6129:22299,LH00995:25:23T55JLT4:5:1173:12447:2247,LH00995:25:23T55JLT4:5:1301:50851:6829,LH00995:25:23T55JLT4:6:1363:3152:25634,LH00995:25:23T55JLT4:6:1394:8402:25283,LH00995:25:23T55JLT4:6:2150:38295:10753,LH00995:25:23T55JLT4:6:2441:44071:7165,LH00995:25:23T55JLT4:8:2265:14672:26755,LH00995:25:23T55JLT4:8:2384:39516:19258 | YES_LDAS | GT | 1.9329 | chr19:1020772:- | TMEM259^ENSG00000182087.14 | Membralin-PARTIAL|35-225~|3.1e-172 | ETS_PEA3_N-PARTIAL|~86-300|6.4e-103^Ets|303-382|3.6e-38^HSF_DNA-bind|308-363|6.1e-05 | FRAMESHIFT | AG | 1.9086 | chr17:43536479:- | ETV4^ENSG00000175832.13 | 0 | . | ONLY_REF_SPLICE | ["INTERCHROMOSOMAL[chr19--chr17]"] | False | chr19:1020772-chr17:43536479 | 9.0 | 0.0 | 9 | 1173_NWE | STAR-Fusion | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| fp_audit | 1173_NWE | fusion | ETV4--TMEM259 | TMEM259--ETV4 | ETV4--TMEM259 | FP | FP | Arriba; STAR-Fusion | dev_rna_exp0016 | 1173_NWE | altera_exact | 1173 | clinical | patient | ovary | Ovarian | 68 | unknown | False | 1173_NWE_T1_RNA_SLD_01 | tRNA | altera_inhouse | ssf | 15.00 | 35.00 | 58.41 | AIH_Ext12_RNA | F01 | False | dev_rna_exp0016_lib_s06 | 200.00 | 91.75 | dev_rna_exp0016 | F01 | False | 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_1 | dev_rna_exp0016 | 1,2,3,4,5,6,7,8 | 1.00 | False | nfcore_rnafusion | 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_2 | BND | chr19 | chr17 | TMEM259 | ETV4 | 1020772 | 43536479 | chr19:1020772-chr17:43536479 | -,- | STAR-Fusion | 1 | 0 | 9 | 0.0305 | 9 | PASS | out-of-frame | TMEM259--ETV4 | ETV4--TMEM259 | ["INTERCHROMOSOMAL[chr19--chr17]"] | ONLY_REF_SPLICE | YES_LDAS | 1.9086 | False | False | False | GT | AG | 9 | False | 1 | ENST00000593068.7 | 1-225 | ENST00000545954.5 | 86-1338 | 0.0305 | PASS | atgtcggagcacgtggagcccgcagctccggggcccgggcccaacggcggcggcggcggcccggcccccgcgcgcgggcctcgcacccccaatctcaaccccaaccccctcatcaacgtgcgcgaccggctcttccacgcgctgttcttcaagatggctgtcacctattcgcggctcttcccgcccgccttccgccgtctcttcgagttcttcgtgctgctcaagCTCAGGTACCAGACAGTGATGAGCAGTTTGTTCCTGATTTCCATTCAGAAAACCTAGCTTTCCACAGCCCCACCACCAGGATCAAGAAGGAGCCCCAGAGTCCCCGCACAGACCCGGCCCTGTCCTGCAGCAGGAAGCCGCCACTCCCCTACCACCATGGCGAGCAGTGCCTTTACTCCAGTGCCTATGACCCCCCCAGACAAATCGCCATCAAGTCCCCTGCCCCTGGTGCCCTTGGACAGTCGCCCCTACAGCCCTTTCCCCGGGCAGAGCAACGGAATTTCCTGAGATCCTCTGGCACCTCCCAGCCCCACCCTGGCCATGGGTACCTCGGGGAACATAGCTCCGTCTTCCAGCAGCCCCTGGACATTTGCCACTCCTTCACATCTCAGGGAGGGGGCCGGGAACCCCTCCCAGCCCCCTACCAACACCAGCTGTCGGAGCCCTGCCCACCCTATCCCCAGCAGAGCTTTAAGCAAGAATACCATGATCCCCTGTATGAACAGGCGGGCCAGCCAGCCGTGGACCAGGGTGGGGTCAATGGGCACAGGTACCCAGGGGCGGGGGTGGTGATCAAACAGGAACAGACGGACTTCGCCTACGACTCAGATGTCACCGGGTGCGCATCAATGTACCTCCACACAGAGGGCTTCTCTGGGCCCTCTCCAGGTGACGGGGCCATGGGCTATGGCTATGAGAAACCTCTGCGACCATTCCCAGATGATGTCTGCGTTGTCCCTGAGAAATTTGAAGGAGACATCAAGCAGGAAGGGGTCGGTGCATTTCGAGAGGGGCCGCCCTACCAGCGCCGGGGTGCCCTGCAGCTGTGGCAATTTCTGGTGGCCTTGCTGGATGACCCAACAAATGCCCATTTCATTGCCTGGACGGGCCGGGGAATGGAGTTCAAGCTCATTGAGCCTGAGGAGGTCGCCAGGCTCTGGGGCATCCAGAAGAACCGGCCAGCCATGAATTACGACAAGCTGAGCCGCTCGCTCCGATACTATTATGAGAAAGGCATCATGCAGAAGGTGGCTGGTGAGCGTTACGTGTACAAGTTTGTGTGTGAGCCCGAGGCCCTCTTCTCTTTGGCCTTCCCGGACAATCAGCGTCCAGCTCTCAAGGCTGAGTTTGACCGGCCTGTCAGTGAGGAGGACACAGTCCCTTTGTCCCACTTGGATGAGAGCCCCGCCTACCTCCCAGAGCTGGCTGGCCCCGCCCAGCCATTTGGCCCCAAGGGTGGCTACTCTTACTAG | chr19|-|[2]1020772-1020996[0]<==>chr17|-|[2]43528519-43528743[0]|[2]43529135-43529236[0]|[2]43529504-43529676[1]|[0]43529884-43529952[1]|[0]43530107-43530181[1]|[0]43532674-43532939[2]|[1]43533187-43533348[2]|[1]43533859-43533985[1]|[0]43536426-43536479[1] | MSEHVEPAAPGPGPNGGGGGPAPARGPRTPNLNPNPLINVRDRLFHALFFKMAVTYSRLFPPAFRRLFEFFVLLKLRYQTVMSSLFLISIQKT*LSTAPPPGSRRSPRVPAQTRPCPAAGSRHSPTTMASSAFTPVPMTPPDKSPSSPLPLVPLDSRPYSPFPGQSNGIS*DPLAPPSPTLAMGTSGNIAPSSSSPWTFATPSHLREGAGNPSQPPTNTSCRSPAHPIPSRALSKNTMIPCMNRRASQPWTRVGSMGTGTQGRGW*SNRNRRTSPTTQMSPGAHQCTSTQRASLGPLQVTGPWAMAMRNLCDHSQMMSALSLRNLKETSSRKGSVHFERGRPTSAGVPCSCGNFWWPCWMTQQMPISLPGRAGEWSSSSLSLRRSPGSGASRRTGQP*ITTS*AARSDTIMRKASCRRWLVSVTCTSLCVSPRPSSLWPSRTISVQLSRLSLTGLSVRRTQSLCPTWMRAPPTSQSWLAPPSHLAPRVATLT | TMEM259--ETV4 | 9 | LH00995:25:23T55JLT4:2:2208:6129:22299,LH00995:25:23T55JLT4:5:1173:12447:2247,LH00995:25:23T55JLT4:5:1301:50851:6829,LH00995:25:23T55JLT4:6:1363:3152:25634,LH00995:25:23T55JLT4:6:1394:8402:25283,LH00995:25:23T55JLT4:6:2150:38295:10753,LH00995:25:23T55JLT4:6:2441:44071:7165,LH00995:25:23T55JLT4:8:2265:14672:26755,LH00995:25:23T55JLT4:8:2384:39516:19258 | YES_LDAS | GT | 1.9329 | chr19:1020772:- | TMEM259^ENSG00000182087.14 | Membralin-PARTIAL|35-225~|3.1e-172 | ETS_PEA3_N-PARTIAL|~86-300|6.4e-103^Ets|303-382|3.6e-38^HSF_DNA-bind|308-363|6.1e-05 | FRAMESHIFT | AG | 1.9086 | chr17:43536479:- | ETV4^ENSG00000175832.13 | 0 | . | ONLY_REF_SPLICE | ["INTERCHROMOSOMAL[chr19--chr17]"] | False | chr19:1020772-chr17:43536479 | 9.0 | 0.0 | 9 | 1173_NWE | STAR-Fusion | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| fp_audit | 1173_NWE | fusion | ETV4--TMEM259 | TMEM259--ETV4 | ETV4--TMEM259 | FP | FP | Arriba; STAR-Fusion | dev_rna_exp0016 | 1173_NWE | altera_exact | 1173 | clinical | patient | ovary | Ovarian | 68 | unknown | False | 1173_NWE_T1_RNA_SLD_01 | tRNA | altera_inhouse | ssf | 15.00 | 35.00 | 58.41 | AIH_Ext12_RNA | F01 | False | dev_rna_exp0016_lib_s06 | 200.00 | 91.75 | dev_rna_exp0016 | F01 | False | 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_1 | dev_rna_exp0016 | 1,2,3,4,5,6,7,8 | 1.00 | False | nfcore_rnafusion | 1173_NWE_T1_RNA_SLD_01_A23T55JLT4_1 | BND | chr19 | chr17 | TMEM259 | ETV4 | 1020772 | 43536479 | chr19:1020772-chr17:43536479 | -,- | STAR-Fusion | 1 | 0 | 10 | 0.0338 | 10 | PASS | out-of-frame | TMEM259--ETV4 | ETV4--TMEM259 | ["INTERCHROMOSOMAL[chr19--chr17]"] | ONLY_REF_SPLICE | YES_LDAS | 1.9086 | False | False | False | GT | AG | 10 | False | 1 | ENST00000593068.7 | 1-225 | ENST00000545954.5 | 86-1338 | 0.0338 | PASS | atgtcggagcacgtggagcccgcagctccggggcccgggcccaacggcggcggcggcggcccggcccccgcgcgcgggcctcgcacccccaatctcaaccccaaccccctcatcaacgtgcgcgaccggctcttccacgcgctgttcttcaagatggctgtcacctattcgcggctcttcccgcccgccttccgccgtctcttcgagttcttcgtgctgctcaagCTCAGGTACCAGACAGTGATGAGCAGTTTGTTCCTGATTTCCATTCAGAAAACCTAGCTTTCCACAGCCCCACCACCAGGATCAAGAAGGAGCCCCAGAGTCCCCGCACAGACCCGGCCCTGTCCTGCAGCAGGAAGCCGCCACTCCCCTACCACCATGGCGAGCAGTGCCTTTACTCCAGTGCCTATGACCCCCCCAGACAAATCGCCATCAAGTCCCCTGCCCCTGGTGCCCTTGGACAGTCGCCCCTACAGCCCTTTCCCCGGGCAGAGCAACGGAATTTCCTGAGATCCTCTGGCACCTCCCAGCCCCACCCTGGCCATGGGTACCTCGGGGAACATAGCTCCGTCTTCCAGCAGCCCCTGGACATTTGCCACTCCTTCACATCTCAGGGAGGGGGCCGGGAACCCCTCCCAGCCCCCTACCAACACCAGCTGTCGGAGCCCTGCCCACCCTATCCCCAGCAGAGCTTTAAGCAAGAATACCATGATCCCCTGTATGAACAGGCGGGCCAGCCAGCCGTGGACCAGGGTGGGGTCAATGGGCACAGGTACCCAGGGGCGGGGGTGGTGATCAAACAGGAACAGACGGACTTCGCCTACGACTCAGATGTCACCGGGTGCGCATCAATGTACCTCCACACAGAGGGCTTCTCTGGGCCCTCTCCAGGTGACGGGGCCATGGGCTATGGCTATGAGAAACCTCTGCGACCATTCCCAGATGATGTCTGCGTTGTCCCTGAGAAATTTGAAGGAGACATCAAGCAGGAAGGGGTCGGTGCATTTCGAGAGGGGCCGCCCTACCAGCGCCGGGGTGCCCTGCAGCTGTGGCAATTTCTGGTGGCCTTGCTGGATGACCCAACAAATGCCCATTTCATTGCCTGGACGGGCCGGGGAATGGAGTTCAAGCTCATTGAGCCTGAGGAGGTCGCCAGGCTCTGGGGCATCCAGAAGAACCGGCCAGCCATGAATTACGACAAGCTGAGCCGCTCGCTCCGATACTATTATGAGAAAGGCATCATGCAGAAGGTGGCTGGTGAGCGTTACGTGTACAAGTTTGTGTGTGAGCCCGAGGCCCTCTTCTCTTTGGCCTTCCCGGACAATCAGCGTCCAGCTCTCAAGGCTGAGTTTGACCGGCCTGTCAGTGAGGAGGACACAGTCCCTTTGTCCCACTTGGATGAGAGCCCCGCCTACCTCCCAGAGCTGGCTGGCCCCGCCCAGCCATTTGGCCCCAAGGGTGGCTACTCTTACTAG | chr19|-|[2]1020772-1020996[0]<==>chr17|-|[2]43528519-43528743[0]|[2]43529135-43529236[0]|[2]43529504-43529676[1]|[0]43529884-43529952[1]|[0]43530107-43530181[1]|[0]43532674-43532939[2]|[1]43533187-43533348[2]|[1]43533859-43533985[1]|[0]43536426-43536479[1] | MSEHVEPAAPGPGPNGGGGGPAPARGPRTPNLNPNPLINVRDRLFHALFFKMAVTYSRLFPPAFRRLFEFFVLLKLRYQTVMSSLFLISIQKT*LSTAPPPGSRRSPRVPAQTRPCPAAGSRHSPTTMASSAFTPVPMTPPDKSPSSPLPLVPLDSRPYSPFPGQSNGIS*DPLAPPSPTLAMGTSGNIAPSSSSPWTFATPSHLREGAGNPSQPPTNTSCRSPAHPIPSRALSKNTMIPCMNRRASQPWTRVGSMGTGTQGRGW*SNRNRRTSPTTQMSPGAHQCTSTQRASLGPLQVTGPWAMAMRNLCDHSQMMSALSLRNLKETSSRKGSVHFERGRPTSAGVPCSCGNFWWPCWMTQQMPISLPGRAGEWSSSSLSLRRSPGSGASRRTGQP*ITTS*AARSDTIMRKASCRRWLVSVTCTSLCVSPRPSSLWPSRTISVQLSRLSLTGLSVRRTQSLCPTWMRAPPTSQSWLAPPSHLAPRVATLT | TMEM259--ETV4 | 10 | LH00995:25:23T55JLT4:2:2146:16743:22859,LH00995:25:23T55JLT4:2:2180:49605:11117,LH00995:25:23T55JLT4:2:2191:3225:28366,LH00995:25:23T55JLT4:5:1266:5822:10416,LH00995:25:23T55JLT4:6:1278:11177:27679,LH00995:25:23T55JLT4:6:1439:49888:7320,LH00995:25:23T55JLT4:8:1256:39217:23588,LH00995:25:23T55JLT4:8:1320:5571:17044,LH00995:25:23T55JLT4:8:1344:50001:26488,LH00995:25:23T55JLT4:8:2474:30488:27273 | YES_LDAS | GT | 1.9329 | chr19:1020772:- | TMEM259^ENSG00000182087.14 | Membralin-PARTIAL|35-225~|3.1e-172 | ETS_PEA3_N-PARTIAL|~86-300|6.4e-103^Ets|303-382|3.6e-38^HSF_DNA-bind|308-363|6.1e-05 | FRAMESHIFT | AG | 1.9086 | chr17:43536479:- | ETV4^ENSG00000175832.13 | 0 | . | ONLY_REF_SPLICE | ["INTERCHROMOSOMAL[chr19--chr17]"] | False | chr19:1020772-chr17:43536479 | 10.0 | 0.0 | 10 | 1173_NWE | STAR-Fusion | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| fp_audit | 1173_PCB | fusion | FGFR3--TACC3 | FGFR3--TACC3 | FGFR3--TACC3 | FP | FP | Arriba; STAR-Fusion | dev_rna_exp0016 | 1173_PCB | altera_exact | 1173 | clinical | patient | ovary | Ovarian | 76 | unknown | False | 1173_PCB_T1_RNA_SLD_01 | tRNA | altera_inhouse | ssf | 34.40 | 35.00 | 45.47 | AIH_Ext12_RNA | D01 | False | dev_rna_exp0016_lib_s04 | 200.00 | 85.65 | dev_rna_exp0016 | D01 | False | 1173_PCB_T1_RNA_SLD_01_A23T55JLT4_1 | dev_rna_exp0016 | 1,2,3,4,5,6,7,8 | 1.00 | False | nfcore_rnafusion | 1173_PCB_T1_RNA_SLD_01_A23T55JLT4_1 | BND | chr4 | chr4 | FGFR3 | TACC3 | 1806934 | 1739702 | chr4:1806934-chr4:1739702 | +,+ | STAR-Fusion | 1 | 0 | 29 | 0.2759 | 29 | PASS | in-frame | FGFR3--TACC3 | FGFR3--TACC3 | ["ChimerKB","ChimerSeq","TCGA_StarF2019","CCLE_StarF2019","YOSHIHARA_TCGA","Klijn_CellLines","DEEPEST2019","GUO2018CR_TCGA","ChimerPub","TumorFusionsNAR2018","Cosmic","INTRACHROMOSOMAL[chr4:0.05Mb]","LOCAL_REARRANGEMENT:+:[48122]"] | ONLY_REF_SPLICE | YES_LDAS | 1.7819 | False | False | False | GT | AG | 29 | True | TCGA_StarF2019;ChimerKB;ChimerPub;ChimerSeq;Cosmic;CCLE_StarF2019;DEEPEST2019;GUO2018;TumorFusionsNAR2018;YOSHIHARA_TCGA;Klijn_CellLines | 1 | ENST00000340107.8 | 1-2280 | ENST00000651472.1 | 1942-2517 | 0.2759 | PASS | atgggcgcccctgcctgcgccctcgcgctctgcgtggccgtggccatcgtggccggcgcctcctcggagtccttggggacggagcagcgcgtcgtggggcgagcggcagaagtcccgggcccagagcccggccagcaggagcagttggtcttcggcagcggggatgctgtggagctgagctgtcccccgcccgggggtggtcccatggggcccactgtctgggtcaaggatggcacagggctggtgccctcggagcgtgtcctggtggggccccagcggctgcaggtgctgaatgcctcccacgaggactccggggcctacagctgccggcagcggctcacgcagcgcgtactgtgccacttcagtgtgcgggtgacagacgctccatcctcgggagatgacgaagacggggaggacgaggctgaggacacaggtgtggacacaggggccccttactggacacggcccgagcggatggacaagaagctgctggccgtgccggccgccaacaccgtccgcttccgctgcccagccgctggcaaccccactccctccatctcctggctgaagaacggcagggagttccgcggcgagcaccgcattggaggcatcaagctgcggcatcagcagtggagcctggtcatggaaagcgtggtgccctcggaccgcggcaactacacctgcgtcgtggagaacaagtttggcagcatccggcagacgtacacgctggacgtgctggagcgctccccgcaccggcccatcctgcaggcggggctgccggccaaccagacggcggtgctgggcagcgacgtggagttccactgcaaggtgtacagtgacgcacagccccacatccagtggctcaagcacgtggaggtgaatggcagcaaggtgggcccggacggcacaccctacgttaccgtgctcaagtcctggatcagtgagagtgtggaggccgacgtgcgcctccgcctggccaatgtgtcggagcgggacgggggcgagtacctctgtcgagccaccaatttcataggcgtggccgagaaggccttttggctgagcgttcacgggccccgagcagccgaggaggagctggtggaggctgacgaggcgggcagtgtgtatgcaggcatcctcagctacggggtgggcttcttcctgttcatcctggtggtggcggctgtgacgctctgccgcctgcgcagcccccccaagaaaggcctgggctcccccaccgtgcacaagatctcccgcttcccgctcaagcgacaggtgtccctggagtccaacgcgtccatgagctccaacacaccactggtgcgcatcgcaaggctgtcctcaggggagggccccacgctggccaatgtctccgagctcgagctgcctgccgaccccaaatgggagctgtctcgggcccggctgaccctgggcaagccccttggggagggctgcttcggccaggtggtcatggcggaggccatcggcattgacaaggaccgggccgccaagcctgtcaccgtagccgtgaagatgctgaaagacgatgccactgacaaggacctgtcggacctggtgtctgagatggagatgatgaagatgatcgggaaacacaaaaacatcatcaacctgctgggcgcctgcacgcagggcgggcccctgtacgtgctggtggagtacgcggccaagggtaacctgcgggagtttctgcgggcgcggcggcccccgggcctggactactccttcgacacctgcaagccgcccgaggagcagctcaccttcaaggacctggtgtcctgtgcctaccaggtggcccggggcatggagtacttggcctcccagaagtgcatccacagggacctggctgcccgcaatgtgctggtgaccgaggacaacgtgatgaagatcgcagacttcgggctggcccgggacgtgcacaacctcgactactacaagaagacgaccaacggccggctgcccgtgaagtggatggcgcctgaggccttgtttgaccgagtctacactcaccagagtgacgtctggtcctttggggtcctgctctgggagatcttcacgctggggggctccccgtaccccggcatccctgtggaggagctcttcaagctgctgaaggagggccaccgcatggacaagcccgccaactgcacacacgacctgtacatgatcatgcgggagtgctggcatgccgcgccctcccagaggcccaccttcaagcagctggtggaggacctggaccgtgtccttaccgtgacgtccaccgacGTAAAGGCGACACAGGAGGAGAACCGGGAGCTGAGGAGCAGGTGTGAGGAGCTCCACGGGAAGAACCTGGAACTGGGGAAGATCATGGACAGGTTCGAAGAGGTTGTGTACCAGGCCATGGAGGAAGTTCAGAAGCAGAAGGAACTTTCCAAAGCTGAAATCCAGAAAGTTCTAAAAGAAAAAGACCAACTTACCACAGATCTGAACTCCATGGAGAAGTCCTTCTCCGACCTCTTCAAGCGTTTTGAGAAACAGAAAGAGGTGATCGAGGGCTACCGCAAGAACGAAGAGTCACTGAAGAAGTGCGTGGAGGATTACCTGGCAAGGATCACCCAGGAGGGCCAGAGGTACCAAGCCCTGAAGGCCCACGCGGAGGAGAAGCTGCAGCTGGCAAACGAGGAGATCGCCCAGGTCCGGAGCAAGGCCCAGGCGGAAGCGTTGGCCCTCCAGGCCAGCCTGAGGAAGGAGCAGATGCGCATCCAGTCGCTGGAGAAGACAGTGGAGCAGAAGACTAAAGAGAACGAGGAGCTGACCAGGATCTGCGACGACCTCATCTCCAAGATGGAGAAGATCTGA | chr4|+|[0]1793935-1794043[0]|[1]1799254-1799523[0]|[1]1799747-1799812[0]|[1]1801367-1801536[2]|[0]1801620-1801743[0]|[1]1801835-1802025[2]|[0]1802914-1803064[0]|[1]1804330-1804520[2]|[0]1804824-1804969[1]|[2]1805355-1805476[0]|[1]1805559-1805669[0]|[1]1805750-1805940[2]|[0]1806051-1806173[2]|[0]1806257-1806327[1]|[2]1806546-1806683[1]|[2]1806829-1806934[2]<==>chr4|+|[0]1739702-1739778[1]|[2]1739959-1740002[0]|[1]1740826-1740986[2]|[0]1744518-1744624[1]|[2]1744712-1744832[2]|[0]1744948-1745013[2] | MGAPACALALCVAVAIVAGASSESLGTEQRVVGRAAEVPGPEPGQQEQLVFGSGDAVELSCPPPGGGPMGPTVWVKDGTGLVPSERVLVGPQRLQVLNASHEDSGAYSCRQRLTQRVLCHFSVRVTDAPSSGDDEDGEDEAEDTGVDTGAPYWTRPERMDKKLLAVPAANTVRFRCPAAGNPTPSISWLKNGREFRGEHRIGGIKLRHQQWSLVMESVVPSDRGNYTCVVENKFGSIRQTYTLDVLERSPHRPILQAGLPANQTAVLGSDVEFHCKVYSDAQPHIQWLKHVEVNGSKVGPDGTPYVTVLKSWISESVEADVRLRLANVSERDGGEYLCRATNFIGVAEKAFWLSVHGPRAAEEELVEADEAGSVYAGILSYGVGFFLFILVVAAVTLCRLRSPPKKGLGSPTVHKISRFPLKRQVSLESNASMSSNTPLVRIARLSSGEGPTLANVSELELPADPKWELSRARLTLGKPLGEGCFGQVVMAEAIGIDKDRAAKPVTVAVKMLKDDATDKDLSDLVSEMEMMKMIGKHKNIINLLGACTQGGPLYVLVEYAAKGNLREFLRARRPPGLDYSFDTCKPPEEQLTFKDLVSCAYQVARGMEYLASQKCIHRDLAARNVLVTEDNVMKIADFGLARDVHNLDYYKKTTNGRLPVKWMAPEALFDRVYTHQSDVWSFGVLLWEIFTLGGSPYPGIPVEELFKLLKEGHRMDKPANCTHDLYMIMRECWHAAPSQRPTFKQLVEDLDRVLTVTSTDVKATQEENRELRSRCEELHGKNLELGKIMDRFEEVVYQAMEEVQKQKELSKAEIQKVLKEKDQLTTDLNSMEKSFSDLFKRFEKQKEVIEGYRKNEESLKKCVEDYLARITQEGQRYQALKAHAEEKLQLANEEIAQVRSKAQAEALALQASLRKEQMRIQSLEKTVEQKTKENEELTRICDDLISKMEKI* | FGFR3--TACC3 | 29 | LH00995:25:23T55JLT4:1:1274:4325:19762,LH00995:25:23T55JLT4:1:1425:14009:16694,LH00995:25:23T55JLT4:1:2155:38578:9786,LH00995:25:23T55JLT4:1:2240:21427:11551,LH00995:25:23T55JLT4:1:2260:19656:21150,LH00995:25:23T55JLT4:1:2326:43003:28969,LH00995:25:23T55JLT4:1:2397:12876:7418,LH00995:25:23T55JLT4:1:2437:11711:1112,LH00995:25:23T55JLT4:2:1386:11032:24933,LH00995:25:23T55JLT4:2:1425:5538:15279,LH00995:25:23T55JLT4:2:2251:43934:10010,LH00995:25:23T55JLT4:2:2482:35512:2429,LH00995:25:23T55JLT4:3:1112:27519:23588,LH00995:25:23T55JLT4:3:1132:27462:10907,LH00995:25:23T55JLT4:3:1202:3953:13345,LH00995:25:23T55JLT4:3:1285:50940:19762,LH00995:25:23T55JLT4:3:1313:9292:23518,LH00995:25:23T55JLT4:3:2158:23862:16722,LH00995:25:23T55JLT4:4:1149:34468:10907,LH00995:25:23T55JLT4:4:1313:17552:29025,LH00995:25:23T55JLT4:4:1479:3848:18179,LH00995:25:23T55JLT4:4:2136:30569:15895,LH00995:25:23T55JLT4:4:2145:8742:10823,LH00995:25:23T55JLT4:4:2202:38756:27553,LH00995:25:23T55JLT4:6:2429:3451:6899,LH00995:25:23T55JLT4:7:2221:9721:4587,LH00995:25:23T55JLT4:7:2266:6954:24905,LH00995:25:23T55JLT4:8:1194:30917:29109,LH00995:25:23T55JLT4:8:1470:26030:14059 | YES_LDAS | GT | 1.8892 | chr4:1806934:+ | FGFR3^ENSG00000068078.20 | I-set|48-110|6.2e-06^ig|49-110|5.6e-05^Ig_3|51-110|1.4e-06^Ig_2|52-115|3.4e-06^V-set|53-80|4.4^C2-set_2|54-85|2.3^Ig_4|56-116|0.006^V-set|94-110|0.043^Ig_6|94-119|0.0043^V-set_CD47|97-111|4.6^ig|161-236|3.6e-11^V-set|164-192|0.27^I-set|166-245|2.5e-18^Ig_3|166-232|1.1e-15^Ig_2|166-240|6.1e-13^C2-set_2|170-195|3.4e-05^Ig_4|185-233|0.024^V-set|206-245|0.00013^V-set_CD47|208-245|0.00099^Ig_6|213-245|0.019^Ig_2|253-342|1.6e-06^I-set|260-355|4.5e-14^Ig_3|260-342|1.8e-13^V-set|260-356|1.1e-07^ig|264-348|2.3e-07^C2-set_2|268-291|0.35^V-set_CD47|274-343|0.026^Ig_4|321-340|1.3^Ig_6|323-341|0.33^FGFR3_TM|371-401|2.3e-17^PK_Tyr_Ser-Thr|474-750|6.3e-107^Pkinase|477-748|4.2e-47^Pkinase_fungal|592-687|1.8e-05 | . | INFRAME | AG | 1.7819 | chr4:1739702:+ | TACC3^ENSG00000013810.20 | 0 | . | ONLY_REF_SPLICE | ["ChimerKB","ChimerSeq","TCGA_StarF2019","CCLE_StarF2019","YOSHIHARA_TCGA","Klijn_CellLines","DEEPEST2019","GUO2018CR_TCGA","ChimerPub","TumorFusionsNAR2018","Cosmic","INTRACHROMOSOMAL[chr4:0.05Mb]","LOCAL_REARRANGEMENT:+:[48122]"] | False | chr4:1806934-chr4:1739702 | 29.0 | 0.0 | 29 | 1173_PCB | STAR-Fusion | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| fp_audit | 1173_PCB | fusion | FGFR3--TACC3 | FGFR3--TACC3 | FGFR3--TACC3 | FP | FP | Arriba; STAR-Fusion | dev_rna_exp0016 | 1173_PCB | altera_exact | 1173 | clinical | patient | ovary | Ovarian | 76 | unknown | False | 1173_PCB_T1_RNA_SLD_01 | tRNA | altera_inhouse | ssf | 34.40 | 35.00 | 45.47 | AIH_Ext12_RNA | D01 | False | dev_rna_exp0016_lib_s04 | 200.00 | 85.65 | dev_rna_exp0016 | D01 | False | 1173_PCB_T1_RNA_SLD_01_A23T55JLT4_1 | dev_rna_exp0016 | 1,2,3,4,5,6,7,8 | 1.00 | False | nfcore_rnafusion | 1173_PCB_T1_RNA_SLD_01_A23T55JLT4_2 | BND | chr4 | chr4 | FGFR3 | TACC3 | 1806934 | 1739702 | chr4:1806934-chr4:1739702 | +,+ | STAR-Fusion | 1 | 0 | 41 | 0.1775 | 41 | PASS | in-frame | FGFR3--TACC3 | FGFR3--TACC3 | ["ChimerKB","ChimerSeq","TCGA_StarF2019","CCLE_StarF2019","YOSHIHARA_TCGA","Klijn_CellLines","DEEPEST2019","GUO2018CR_TCGA","ChimerPub","TumorFusionsNAR2018","Cosmic","INTRACHROMOSOMAL[chr4:0.05Mb]","LOCAL_REARRANGEMENT:+:[48122]"] | ONLY_REF_SPLICE | YES_LDAS | 1.7819 | False | False | False | GT | AG | 41 | True | TCGA_StarF2019;ChimerKB;ChimerPub;ChimerSeq;Cosmic;CCLE_StarF2019;DEEPEST2019;GUO2018;TumorFusionsNAR2018;YOSHIHARA_TCGA;Klijn_CellLines | 1 | ENST00000340107.8 | 1-2280 | ENST00000651472.1 | 1942-2517 | 0.1775 | PASS | atgggcgcccctgcctgcgccctcgcgctctgcgtggccgtggccatcgtggccggcgcctcctcggagtccttggggacggagcagcgcgtcgtggggcgagcggcagaagtcccgggcccagagcccggccagcaggagcagttggtcttcggcagcggggatgctgtggagctgagctgtcccccgcccgggggtggtcccatggggcccactgtctgggtcaaggatggcacagggctggtgccctcggagcgtgtcctggtggggccccagcggctgcaggtgctgaatgcctcccacgaggactccggggcctacagctgccggcagcggctcacgcagcgcgtactgtgccacttcagtgtgcgggtgacagacgctccatcctcgggagatgacgaagacggggaggacgaggctgaggacacaggtgtggacacaggggccccttactggacacggcccgagcggatggacaagaagctgctggccgtgccggccgccaacaccgtccgcttccgctgcccagccgctggcaaccccactccctccatctcctggctgaagaacggcagggagttccgcggcgagcaccgcattggaggcatcaagctgcggcatcagcagtggagcctggtcatggaaagcgtggtgccctcggaccgcggcaactacacctgcgtcgtggagaacaagtttggcagcatccggcagacgtacacgctggacgtgctggagcgctccccgcaccggcccatcctgcaggcggggctgccggccaaccagacggcggtgctgggcagcgacgtggagttccactgcaaggtgtacagtgacgcacagccccacatccagtggctcaagcacgtggaggtgaatggcagcaaggtgggcccggacggcacaccctacgttaccgtgctcaagtcctggatcagtgagagtgtggaggccgacgtgcgcctccgcctggccaatgtgtcggagcgggacgggggcgagtacctctgtcgagccaccaatttcataggcgtggccgagaaggccttttggctgagcgttcacgggccccgagcagccgaggaggagctggtggaggctgacgaggcgggcagtgtgtatgcaggcatcctcagctacggggtgggcttcttcctgttcatcctggtggtggcggctgtgacgctctgccgcctgcgcagcccccccaagaaaggcctgggctcccccaccgtgcacaagatctcccgcttcccgctcaagcgacaggtgtccctggagtccaacgcgtccatgagctccaacacaccactggtgcgcatcgcaaggctgtcctcaggggagggccccacgctggccaatgtctccgagctcgagctgcctgccgaccccaaatgggagctgtctcgggcccggctgaccctgggcaagccccttggggagggctgcttcggccaggtggtcatggcggaggccatcggcattgacaaggaccgggccgccaagcctgtcaccgtagccgtgaagatgctgaaagacgatgccactgacaaggacctgtcggacctggtgtctgagatggagatgatgaagatgatcgggaaacacaaaaacatcatcaacctgctgggcgcctgcacgcagggcgggcccctgtacgtgctggtggagtacgcggccaagggtaacctgcgggagtttctgcgggcgcggcggcccccgggcctggactactccttcgacacctgcaagccgcccgaggagcagctcaccttcaaggacctggtgtcctgtgcctaccaggtggcccggggcatggagtacttggcctcccagaagtgcatccacagggacctggctgcccgcaatgtgctggtgaccgaggacaacgtgatgaagatcgcagacttcgggctggcccgggacgtgcacaacctcgactactacaagaagacgaccaacggccggctgcccgtgaagtggatggcgcctgaggccttgtttgaccgagtctacactcaccagagtgacgtctggtcctttggggtcctgctctgggagatcttcacgctggggggctccccgtaccccggcatccctgtggaggagctcttcaagctgctgaaggagggccaccgcatggacaagcccgccaactgcacacacgacctgtacatgatcatgcgggagtgctggcatgccgcgccctcccagaggcccaccttcaagcagctggtggaggacctggaccgtgtccttaccgtgacgtccaccgacGTAAAGGCGACACAGGAGGAGAACCGGGAGCTGAGGAGCAGGTGTGAGGAGCTCCACGGGAAGAACCTGGAACTGGGGAAGATCATGGACAGGTTCGAAGAGGTTGTGTACCAGGCCATGGAGGAAGTTCAGAAGCAGAAGGAACTTTCCAAAGCTGAAATCCAGAAAGTTCTAAAAGAAAAAGACCAACTTACCACAGATCTGAACTCCATGGAGAAGTCCTTCTCCGACCTCTTCAAGCGTTTTGAGAAACAGAAAGAGGTGATCGAGGGCTACCGCAAGAACGAAGAGTCACTGAAGAAGTGCGTGGAGGATTACCTGGCAAGGATCACCCAGGAGGGCCAGAGGTACCAAGCCCTGAAGGCCCACGCGGAGGAGAAGCTGCAGCTGGCAAACGAGGAGATCGCCCAGGTCCGGAGCAAGGCCCAGGCGGAAGCGTTGGCCCTCCAGGCCAGCCTGAGGAAGGAGCAGATGCGCATCCAGTCGCTGGAGAAGACAGTGGAGCAGAAGACTAAAGAGAACGAGGAGCTGACCAGGATCTGCGACGACCTCATCTCCAAGATGGAGAAGATCTGA | chr4|+|[0]1793935-1794043[0]|[1]1799254-1799523[0]|[1]1799747-1799812[0]|[1]1801367-1801536[2]|[0]1801620-1801743[0]|[1]1801835-1802025[2]|[0]1802914-1803064[0]|[1]1804330-1804520[2]|[0]1804824-1804969[1]|[2]1805355-1805476[0]|[1]1805559-1805669[0]|[1]1805750-1805940[2]|[0]1806051-1806173[2]|[0]1806257-1806327[1]|[2]1806546-1806683[1]|[2]1806829-1806934[2]<==>chr4|+|[0]1739702-1739778[1]|[2]1739959-1740002[0]|[1]1740826-1740986[2]|[0]1744518-1744624[1]|[2]1744712-1744832[2]|[0]1744948-1745013[2] | MGAPACALALCVAVAIVAGASSESLGTEQRVVGRAAEVPGPEPGQQEQLVFGSGDAVELSCPPPGGGPMGPTVWVKDGTGLVPSERVLVGPQRLQVLNASHEDSGAYSCRQRLTQRVLCHFSVRVTDAPSSGDDEDGEDEAEDTGVDTGAPYWTRPERMDKKLLAVPAANTVRFRCPAAGNPTPSISWLKNGREFRGEHRIGGIKLRHQQWSLVMESVVPSDRGNYTCVVENKFGSIRQTYTLDVLERSPHRPILQAGLPANQTAVLGSDVEFHCKVYSDAQPHIQWLKHVEVNGSKVGPDGTPYVTVLKSWISESVEADVRLRLANVSERDGGEYLCRATNFIGVAEKAFWLSVHGPRAAEEELVEADEAGSVYAGILSYGVGFFLFILVVAAVTLCRLRSPPKKGLGSPTVHKISRFPLKRQVSLESNASMSSNTPLVRIARLSSGEGPTLANVSELELPADPKWELSRARLTLGKPLGEGCFGQVVMAEAIGIDKDRAAKPVTVAVKMLKDDATDKDLSDLVSEMEMMKMIGKHKNIINLLGACTQGGPLYVLVEYAAKGNLREFLRARRPPGLDYSFDTCKPPEEQLTFKDLVSCAYQVARGMEYLASQKCIHRDLAARNVLVTEDNVMKIADFGLARDVHNLDYYKKTTNGRLPVKWMAPEALFDRVYTHQSDVWSFGVLLWEIFTLGGSPYPGIPVEELFKLLKEGHRMDKPANCTHDLYMIMRECWHAAPSQRPTFKQLVEDLDRVLTVTSTDVKATQEENRELRSRCEELHGKNLELGKIMDRFEEVVYQAMEEVQKQKELSKAEIQKVLKEKDQLTTDLNSMEKSFSDLFKRFEKQKEVIEGYRKNEESLKKCVEDYLARITQEGQRYQALKAHAEEKLQLANEEIAQVRSKAQAEALALQASLRKEQMRIQSLEKTVEQKTKENEELTRICDDLISKMEKI* | FGFR3--TACC3 | 41 | LH00995:25:23T55JLT4:1:1172:43553:20449,LH00995:25:23T55JLT4:1:1181:14535:26040,LH00995:25:23T55JLT4:1:1290:34946:20869,LH00995:25:23T55JLT4:1:1357:50098:3284,LH00995:25:23T55JLT4:1:1392:44921:28926,LH00995:25:23T55JLT4:1:1409:49071:13359,LH00995:25:23T55JLT4:1:1465:34582:4881,LH00995:25:23T55JLT4:1:2129:44953:11411,LH00995:25:23T55JLT4:1:2141:16953:20757,LH00995:25:23T55JLT4:1:2147:21767:2780,LH00995:25:23T55JLT4:1:2192:27624:12056,LH00995:25:23T55JLT4:1:2218:50948:12406,LH00995:25:23T55JLT4:1:2221:13693:24807,LH00995:25:23T55JLT4:1:2235:4406:2443,LH00995:25:23T55JLT4:1:2336:33595:22509,LH00995:25:23T55JLT4:1:2360:32130:23448,LH00995:25:23T55JLT4:1:2378:5490:13933,LH00995:25:23T55JLT4:1:2420:22058:2892,LH00995:25:23T55JLT4:1:2488:9486:11719,LH00995:25:23T55JLT4:2:1135:8839:13765,LH00995:25:23T55JLT4:2:1150:37276:15489,LH00995:25:23T55JLT4:2:1281:48949:28842,LH00995:25:23T55JLT4:2:1396:42761:24260,LH00995:25:23T55JLT4:2:1421:44597:24218,LH00995:25:23T55JLT4:2:2109:25917:23223,LH00995:25:23T55JLT4:2:2110:29113:15503,LH00995:25:23T55JLT4:2:2364:37267:25087,LH00995:25:23T55JLT4:2:2460:27381:27749,LH00995:25:23T55JLT4:3:1126:40495:15657,LH00995:25:23T55JLT4:3:1268:5692:7249,LH00995:25:23T55JLT4:3:1341:12755:4909,LH00995:25:23T55JLT4:3:1438:48569:15489,LH00995:25:23T55JLT4:3:1477:49419:13597,LH00995:25:23T55JLT4:3:2363:37292:12658,LH00995:25:23T55JLT4:3:2387:16015:21906,LH00995:25:23T55JLT4:4:1411:8111:24695,LH00995:25:23T55JLT4:4:2175:6250:12868,LH00995:25:23T55JLT4:5:1352:6809:28240,LH00995:25:23T55JLT4:5:2381:37178:23700,LH00995:25:23T55JLT4:6:1195:11671:13177,LH00995:25:23T55JLT4:6:1246:40245:24779 | YES_LDAS | GT | 1.8892 | chr4:1806934:+ | FGFR3^ENSG00000068078.20 | I-set|48-110|6.2e-06^ig|49-110|5.6e-05^Ig_3|51-110|1.4e-06^Ig_2|52-115|3.4e-06^V-set|53-80|4.4^C2-set_2|54-85|2.3^Ig_4|56-116|0.006^V-set|94-110|0.043^Ig_6|94-119|0.0043^V-set_CD47|97-111|4.6^ig|161-236|3.6e-11^V-set|164-192|0.27^I-set|166-245|2.5e-18^Ig_3|166-232|1.1e-15^Ig_2|166-240|6.1e-13^C2-set_2|170-195|3.4e-05^Ig_4|185-233|0.024^V-set|206-245|0.00013^V-set_CD47|208-245|0.00099^Ig_6|213-245|0.019^Ig_2|253-342|1.6e-06^I-set|260-355|4.5e-14^Ig_3|260-342|1.8e-13^V-set|260-356|1.1e-07^ig|264-348|2.3e-07^C2-set_2|268-291|0.35^V-set_CD47|274-343|0.026^Ig_4|321-340|1.3^Ig_6|323-341|0.33^FGFR3_TM|371-401|2.3e-17^PK_Tyr_Ser-Thr|474-750|6.3e-107^Pkinase|477-748|4.2e-47^Pkinase_fungal|592-687|1.8e-05 | . | INFRAME | AG | 1.7819 | chr4:1739702:+ | TACC3^ENSG00000013810.20 | 0 | . | ONLY_REF_SPLICE | ["ChimerKB","ChimerSeq","TCGA_StarF2019","CCLE_StarF2019","YOSHIHARA_TCGA","Klijn_CellLines","DEEPEST2019","GUO2018CR_TCGA","ChimerPub","TumorFusionsNAR2018","Cosmic","INTRACHROMOSOMAL[chr4:0.05Mb]","LOCAL_REARRANGEMENT:+:[48122]"] | False | chr4:1806934-chr4:1739702 | 41.0 | 0.0 | 41 | 1173_PCB | STAR-Fusion | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| fp_audit | 1173_PCB | fusion | FGFR3--TACC3 | FGFR3--TACC3 | FGFR3--TACC3 | FP | FP | Arriba; STAR-Fusion | dev_rna_exp0016 | 1173_PCB | altera_exact | 1173 | clinical | patient | ovary | Ovarian | 76 | unknown | False | 1173_PCB_T1_RNA_SLD_01 | tRNA | altera_inhouse | ssf | 34.40 | 35.00 | 45.47 | AIH_Ext12_RNA | D01 | False | dev_rna_exp0016_lib_s04 | 200.00 | 85.65 | dev_rna_exp0016 | D01 | False | 1173_PCB_T1_RNA_SLD_01_A23T55JLT4_1 | dev_rna_exp0016 | 1,2,3,4,5,6,7,8 | 1.00 | False | nfcore_rnafusion | 1173_PCB_T1_RNA_SLD_01_A23T55JLT4_2 | BND | chr4 | chr4 | FGFR3 | TACC3 | 1806934 | 1739702 | chr4:1806934-chr4:1739702 | +,+ | STAR-Fusion | 1 | 0 | 41 | 0.1775 | 41 | PASS | in-frame | FGFR3--TACC3 | FGFR3--TACC3 | ["ChimerKB","ChimerSeq","TCGA_StarF2019","CCLE_StarF2019","YOSHIHARA_TCGA","Klijn_CellLines","DEEPEST2019","GUO2018CR_TCGA","ChimerPub","TumorFusionsNAR2018","Cosmic","INTRACHROMOSOMAL[chr4:0.05Mb]","LOCAL_REARRANGEMENT:+:[48122]"] | ONLY_REF_SPLICE | YES_LDAS | 1.7819 | False | False | False | GT | AG | 41 | True | TCGA_StarF2019;ChimerKB;ChimerPub;ChimerSeq;Cosmic;CCLE_StarF2019;DEEPEST2019;GUO2018;TumorFusionsNAR2018;YOSHIHARA_TCGA;Klijn_CellLines | 1 | ENST00000340107.8 | 1-2280 | ENST00000651472.1 | 1942-2517 | 0.1775 | PASS | atgggcgcccctgcctgcgccctcgcgctctgcgtggccgtggccatcgtggccggcgcctcctcggagtccttggggacggagcagcgcgtcgtggggcgagcggcagaagtcccgggcccagagcccggccagcaggagcagttggtcttcggcagcggggatgctgtggagctgagctgtcccccgcccgggggtggtcccatggggcccactgtctgggtcaaggatggcacagggctggtgccctcggagcgtgtcctggtggggccccagcggctgcaggtgctgaatgcctcccacgaggactccggggcctacagctgccggcagcggctcacgcagcgcgtactgtgccacttcagtgtgcgggtgacagacgctccatcctcgggagatgacgaagacggggaggacgaggctgaggacacaggtgtggacacaggggccccttactggacacggcccgagcggatggacaagaagctgctggccgtgccggccgccaacaccgtccgcttccgctgcccagccgctggcaaccccactccctccatctcctggctgaagaacggcagggagttccgcggcgagcaccgcattggaggcatcaagctgcggcatcagcagtggagcctggtcatggaaagcgtggtgccctcggaccgcggcaactacacctgcgtcgtggagaacaagtttggcagcatccggcagacgtacacgctggacgtgctggagcgctccccgcaccggcccatcctgcaggcggggctgccggccaaccagacggcggtgctgggcagcgacgtggagttccactgcaaggtgtacagtgacgcacagccccacatccagtggctcaagcacgtggaggtgaatggcagcaaggtgggcccggacggcacaccctacgttaccgtgctcaagtcctggatcagtgagagtgtggaggccgacgtgcgcctccgcctggccaatgtgtcggagcgggacgggggcgagtacctctgtcgagccaccaatttcataggcgtggccgagaaggccttttggctgagcgttcacgggccccgagcagccgaggaggagctggtggaggctgacgaggcgggcagtgtgtatgcaggcatcctcagctacggggtgggcttcttcctgttcatcctggtggtggcggctgtgacgctctgccgcctgcgcagcccccccaagaaaggcctgggctcccccaccgtgcacaagatctcccgcttcccgctcaagcgacaggtgtccctggagtccaacgcgtccatgagctccaacacaccactggtgcgcatcgcaaggctgtcctcaggggagggccccacgctggccaatgtctccgagctcgagctgcctgccgaccccaaatgggagctgtctcgggcccggctgaccctgggcaagccccttggggagggctgcttcggccaggtggtcatggcggaggccatcggcattgacaaggaccgggccgccaagcctgtcaccgtagccgtgaagatgctgaaagacgatgccactgacaaggacctgtcggacctggtgtctgagatggagatgatgaagatgatcgggaaacacaaaaacatcatcaacctgctgggcgcctgcacgcagggcgggcccctgtacgtgctggtggagtacgcggccaagggtaacctgcgggagtttctgcgggcgcggcggcccccgggcctggactactccttcgacacctgcaagccgcccgaggagcagctcaccttcaaggacctggtgtcctgtgcctaccaggtggcccggggcatggagtacttggcctcccagaagtgcatccacagggacctggctgcccgcaatgtgctggtgaccgaggacaacgtgatgaagatcgcagacttcgggctggcccgggacgtgcacaacctcgactactacaagaagacgaccaacggccggctgcccgtgaagtggatggcgcctgaggccttgtttgaccgagtctacactcaccagagtgacgtctggtcctttggggtcctgctctgggagatcttcacgctggggggctccccgtaccccggcatccctgtggaggagctcttcaagctgctgaaggagggccaccgcatggacaagcccgccaactgcacacacgacctgtacatgatcatgcgggagtgctggcatgccgcgccctcccagaggcccaccttcaagcagctggtggaggacctggaccgtgtccttaccgtgacgtccaccgacGTAAAGGCGACACAGGAGGAGAACCGGGAGCTGAGGAGCAGGTGTGAGGAGCTCCACGGGAAGAACCTGGAACTGGGGAAGATCATGGACAGGTTCGAAGAGGTTGTGTACCAGGCCATGGAGGAAGTTCAGAAGCAGAAGGAACTTTCCAAAGCTGAAATCCAGAAAGTTCTAAAAGAAAAAGACCAACTTACCACAGATCTGAACTCCATGGAGAAGTCCTTCTCCGACCTCTTCAAGCGTTTTGAGAAACAGAAAGAGGTGATCGAGGGCTACCGCAAGAACGAAGAGTCACTGAAGAAGTGCGTGGAGGATTACCTGGCAAGGATCACCCAGGAGGGCCAGAGGTACCAAGCCCTGAAGGCCCACGCGGAGGAGAAGCTGCAGCTGGCAAACGAGGAGATCGCCCAGGTCCGGAGCAAGGCCCAGGCGGAAGCGTTGGCCCTCCAGGCCAGCCTGAGGAAGGAGCAGATGCGCATCCAGTCGCTGGAGAAGACAGTGGAGCAGAAGACTAAAGAGAACGAGGAGCTGACCAGGATCTGCGACGACCTCATCTCCAAGATGGAGAAGATCTGA | chr4|+|[0]1793935-1794043[0]|[1]1799254-1799523[0]|[1]1799747-1799812[0]|[1]1801367-1801536[2]|[0]1801620-1801743[0]|[1]1801835-1802025[2]|[0]1802914-1803064[0]|[1]1804330-1804520[2]|[0]1804824-1804969[1]|[2]1805355-1805476[0]|[1]1805559-1805669[0]|[1]1805750-1805940[2]|[0]1806051-1806173[2]|[0]1806257-1806327[1]|[2]1806546-1806683[1]|[2]1806829-1806934[2]<==>chr4|+|[0]1739702-1739778[1]|[2]1739959-1740002[0]|[1]1740826-1740986[2]|[0]1744518-1744624[1]|[2]1744712-1744832[2]|[0]1744948-1745013[2] | MGAPACALALCVAVAIVAGASSESLGTEQRVVGRAAEVPGPEPGQQEQLVFGSGDAVELSCPPPGGGPMGPTVWVKDGTGLVPSERVLVGPQRLQVLNASHEDSGAYSCRQRLTQRVLCHFSVRVTDAPSSGDDEDGEDEAEDTGVDTGAPYWTRPERMDKKLLAVPAANTVRFRCPAAGNPTPSISWLKNGREFRGEHRIGGIKLRHQQWSLVMESVVPSDRGNYTCVVENKFGSIRQTYTLDVLERSPHRPILQAGLPANQTAVLGSDVEFHCKVYSDAQPHIQWLKHVEVNGSKVGPDGTPYVTVLKSWISESVEADVRLRLANVSERDGGEYLCRATNFIGVAEKAFWLSVHGPRAAEEELVEADEAGSVYAGILSYGVGFFLFILVVAAVTLCRLRSPPKKGLGSPTVHKISRFPLKRQVSLESNASMSSNTPLVRIARLSSGEGPTLANVSELELPADPKWELSRARLTLGKPLGEGCFGQVVMAEAIGIDKDRAAKPVTVAVKMLKDDATDKDLSDLVSEMEMMKMIGKHKNIINLLGACTQGGPLYVLVEYAAKGNLREFLRARRPPGLDYSFDTCKPPEEQLTFKDLVSCAYQVARGMEYLASQKCIHRDLAARNVLVTEDNVMKIADFGLARDVHNLDYYKKTTNGRLPVKWMAPEALFDRVYTHQSDVWSFGVLLWEIFTLGGSPYPGIPVEELFKLLKEGHRMDKPANCTHDLYMIMRECWHAAPSQRPTFKQLVEDLDRVLTVTSTDVKATQEENRELRSRCEELHGKNLELGKIMDRFEEVVYQAMEEVQKQKELSKAEIQKVLKEKDQLTTDLNSMEKSFSDLFKRFEKQKEVIEGYRKNEESLKKCVEDYLARITQEGQRYQALKAHAEEKLQLANEEIAQVRSKAQAEALALQASLRKEQMRIQSLEKTVEQKTKENEELTRICDDLISKMEKI* | FGFR3--TACC3 | 41 | LH00995:25:23T55JLT4:1:1172:43553:20449,LH00995:25:23T55JLT4:1:1181:14535:26040,LH00995:25:23T55JLT4:1:1290:34946:20869,LH00995:25:23T55JLT4:1:1357:50098:3284,LH00995:25:23T55JLT4:1:1392:44921:28926,LH00995:25:23T55JLT4:1:1409:49071:13359,LH00995:25:23T55JLT4:1:1465:34582:4881,LH00995:25:23T55JLT4:1:2129:44953:11411,LH00995:25:23T55JLT4:1:2141:16953:20757,LH00995:25:23T55JLT4:1:2147:21767:2780,LH00995:25:23T55JLT4:1:2192:27624:12056,LH00995:25:23T55JLT4:1:2218:50948:12406,LH00995:25:23T55JLT4:1:2221:13693:24807,LH00995:25:23T55JLT4:1:2235:4406:2443,LH00995:25:23T55JLT4:1:2336:33595:22509,LH00995:25:23T55JLT4:1:2360:32130:23448,LH00995:25:23T55JLT4:1:2378:5490:13933,LH00995:25:23T55JLT4:1:2420:22058:2892,LH00995:25:23T55JLT4:1:2488:9486:11719,LH00995:25:23T55JLT4:2:1135:8839:13765,LH00995:25:23T55JLT4:2:1150:37276:15489,LH00995:25:23T55JLT4:2:1281:48949:28842,LH00995:25:23T55JLT4:2:1396:42761:24260,LH00995:25:23T55JLT4:2:1421:44597:24218,LH00995:25:23T55JLT4:2:2109:25917:23223,LH00995:25:23T55JLT4:2:2110:29113:15503,LH00995:25:23T55JLT4:2:2364:37267:25087,LH00995:25:23T55JLT4:2:2460:27381:27749,LH00995:25:23T55JLT4:3:1126:40495:15657,LH00995:25:23T55JLT4:3:1268:5692:7249,LH00995:25:23T55JLT4:3:1341:12755:4909,LH00995:25:23T55JLT4:3:1438:48569:15489,LH00995:25:23T55JLT4:3:1477:49419:13597,LH00995:25:23T55JLT4:3:2363:37292:12658,LH00995:25:23T55JLT4:3:2387:16015:21906,LH00995:25:23T55JLT4:4:1411:8111:24695,LH00995:25:23T55JLT4:4:2175:6250:12868,LH00995:25:23T55JLT4:5:1352:6809:28240,LH00995:25:23T55JLT4:5:2381:37178:23700,LH00995:25:23T55JLT4:6:1195:11671:13177,LH00995:25:23T55JLT4:6:1246:40245:24779 | YES_LDAS | GT | 1.8892 | chr4:1806934:+ | FGFR3^ENSG00000068078.20 | I-set|48-110|6.2e-06^ig|49-110|5.6e-05^Ig_3|51-110|1.4e-06^Ig_2|52-115|3.4e-06^V-set|53-80|4.4^C2-set_2|54-85|2.3^Ig_4|56-116|0.006^V-set|94-110|0.043^Ig_6|94-119|0.0043^V-set_CD47|97-111|4.6^ig|161-236|3.6e-11^V-set|164-192|0.27^I-set|166-245|2.5e-18^Ig_3|166-232|1.1e-15^Ig_2|166-240|6.1e-13^C2-set_2|170-195|3.4e-05^Ig_4|185-233|0.024^V-set|206-245|0.00013^V-set_CD47|208-245|0.00099^Ig_6|213-245|0.019^Ig_2|253-342|1.6e-06^I-set|260-355|4.5e-14^Ig_3|260-342|1.8e-13^V-set|260-356|1.1e-07^ig|264-348|2.3e-07^C2-set_2|268-291|0.35^V-set_CD47|274-343|0.026^Ig_4|321-340|1.3^Ig_6|323-341|0.33^FGFR3_TM|371-401|2.3e-17^PK_Tyr_Ser-Thr|474-750|6.3e-107^Pkinase|477-748|4.2e-47^Pkinase_fungal|592-687|1.8e-05 | . | INFRAME | AG | 1.7819 | chr4:1739702:+ | TACC3^ENSG00000013810.20 | 0 | . | ONLY_REF_SPLICE | ["ChimerKB","ChimerSeq","TCGA_StarF2019","CCLE_StarF2019","YOSHIHARA_TCGA","Klijn_CellLines","DEEPEST2019","GUO2018CR_TCGA","ChimerPub","TumorFusionsNAR2018","Cosmic","INTRACHROMOSOMAL[chr4:0.05Mb]","LOCAL_REARRANGEMENT:+:[48122]"] | False | chr4:1806934-chr4:1739702 | 41.0 | 0.0 | 41 | 1173_PCB | STAR-Fusion | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| fp_audit | 1173_PCB | fusion | FGFR3--TACC3 | FGFR3--TACC3 | FGFR3--TACC3 | FP | FP | Arriba; STAR-Fusion | dev_rna_exp0016 | 1173_PCB | altera_exact | 1173 | clinical | patient | ovary | Ovarian | 76 | unknown | False | 1173_PCB_T1_RNA_SLD_01 | tRNA | altera_inhouse | ssf | 34.40 | 35.00 | 45.47 | AIH_Ext12_RNA | D01 | False | dev_rna_exp0016_lib_s04 | 200.00 | 85.65 | dev_rna_exp0016 | D01 | False | 1173_PCB_T1_RNA_SLD_01_A23T55JLT4_1 | dev_rna_exp0016 | 1,2,3,4,5,6,7,8 | 1.00 | False | nfcore_rnafusion | 1173_PCB_T1_RNA_SLD_01_A23T55JLT4_1 | BND | chr4 | chr4 | FGFR3 | TACC3 | 1806934 | 1739702 | chr4:1806934-chr4:1739702 | +,+ | STAR-Fusion | 1 | 0 | 29 | 0.2759 | 29 | PASS | in-frame | FGFR3--TACC3 | FGFR3--TACC3 | ["ChimerKB","ChimerSeq","TCGA_StarF2019","CCLE_StarF2019","YOSHIHARA_TCGA","Klijn_CellLines","DEEPEST2019","GUO2018CR_TCGA","ChimerPub","TumorFusionsNAR2018","Cosmic","INTRACHROMOSOMAL[chr4:0.05Mb]","LOCAL_REARRANGEMENT:+:[48122]"] | ONLY_REF_SPLICE | YES_LDAS | 1.7819 | False | False | False | GT | AG | 29 | True | TCGA_StarF2019;ChimerKB;ChimerPub;ChimerSeq;Cosmic;CCLE_StarF2019;DEEPEST2019;GUO2018;TumorFusionsNAR2018;YOSHIHARA_TCGA;Klijn_CellLines | 1 | ENST00000340107.8 | 1-2280 | ENST00000651472.1 | 1942-2517 | 0.2759 | PASS | atgggcgcccctgcctgcgccctcgcgctctgcgtggccgtggccatcgtggccggcgcctcctcggagtccttggggacggagcagcgcgtcgtggggcgagcggcagaagtcccgggcccagagcccggccagcaggagcagttggtcttcggcagcggggatgctgtggagctgagctgtcccccgcccgggggtggtcccatggggcccactgtctgggtcaaggatggcacagggctggtgccctcggagcgtgtcctggtggggccccagcggctgcaggtgctgaatgcctcccacgaggactccggggcctacagctgccggcagcggctcacgcagcgcgtactgtgccacttcagtgtgcgggtgacagacgctccatcctcgggagatgacgaagacggggaggacgaggctgaggacacaggtgtggacacaggggccccttactggacacggcccgagcggatggacaagaagctgctggccgtgccggccgccaacaccgtccgcttccgctgcccagccgctggcaaccccactccctccatctcctggctgaagaacggcagggagttccgcggcgagcaccgcattggaggcatcaagctgcggcatcagcagtggagcctggtcatggaaagcgtggtgccctcggaccgcggcaactacacctgcgtcgtggagaacaagtttggcagcatccggcagacgtacacgctggacgtgctggagcgctccccgcaccggcccatcctgcaggcggggctgccggccaaccagacggcggtgctgggcagcgacgtggagttccactgcaaggtgtacagtgacgcacagccccacatccagtggctcaagcacgtggaggtgaatggcagcaaggtgggcccggacggcacaccctacgttaccgtgctcaagtcctggatcagtgagagtgtggaggccgacgtgcgcctccgcctggccaatgtgtcggagcgggacgggggcgagtacctctgtcgagccaccaatttcataggcgtggccgagaaggccttttggctgagcgttcacgggccccgagcagccgaggaggagctggtggaggctgacgaggcgggcagtgtgtatgcaggcatcctcagctacggggtgggcttcttcctgttcatcctggtggtggcggctgtgacgctctgccgcctgcgcagcccccccaagaaaggcctgggctcccccaccgtgcacaagatctcccgcttcccgctcaagcgacaggtgtccctggagtccaacgcgtccatgagctccaacacaccactggtgcgcatcgcaaggctgtcctcaggggagggccccacgctggccaatgtctccgagctcgagctgcctgccgaccccaaatgggagctgtctcgggcccggctgaccctgggcaagccccttggggagggctgcttcggccaggtggtcatggcggaggccatcggcattgacaaggaccgggccgccaagcctgtcaccgtagccgtgaagatgctgaaagacgatgccactgacaaggacctgtcggacctggtgtctgagatggagatgatgaagatgatcgggaaacacaaaaacatcatcaacctgctgggcgcctgcacgcagggcgggcccctgtacgtgctggtggagtacgcggccaagggtaacctgcgggagtttctgcgggcgcggcggcccccgggcctggactactccttcgacacctgcaagccgcccgaggagcagctcaccttcaaggacctggtgtcctgtgcctaccaggtggcccggggcatggagtacttggcctcccagaagtgcatccacagggacctggctgcccgcaatgtgctggtgaccgaggacaacgtgatgaagatcgcagacttcgggctggcccgggacgtgcacaacctcgactactacaagaagacgaccaacggccggctgcccgtgaagtggatggcgcctgaggccttgtttgaccgagtctacactcaccagagtgacgtctggtcctttggggtcctgctctgggagatcttcacgctggggggctccccgtaccccggcatccctgtggaggagctcttcaagctgctgaaggagggccaccgcatggacaagcccgccaactgcacacacgacctgtacatgatcatgcgggagtgctggcatgccgcgccctcccagaggcccaccttcaagcagctggtggaggacctggaccgtgtccttaccgtgacgtccaccgacGTAAAGGCGACACAGGAGGAGAACCGGGAGCTGAGGAGCAGGTGTGAGGAGCTCCACGGGAAGAACCTGGAACTGGGGAAGATCATGGACAGGTTCGAAGAGGTTGTGTACCAGGCCATGGAGGAAGTTCAGAAGCAGAAGGAACTTTCCAAAGCTGAAATCCAGAAAGTTCTAAAAGAAAAAGACCAACTTACCACAGATCTGAACTCCATGGAGAAGTCCTTCTCCGACCTCTTCAAGCGTTTTGAGAAACAGAAAGAGGTGATCGAGGGCTACCGCAAGAACGAAGAGTCACTGAAGAAGTGCGTGGAGGATTACCTGGCAAGGATCACCCAGGAGGGCCAGAGGTACCAAGCCCTGAAGGCCCACGCGGAGGAGAAGCTGCAGCTGGCAAACGAGGAGATCGCCCAGGTCCGGAGCAAGGCCCAGGCGGAAGCGTTGGCCCTCCAGGCCAGCCTGAGGAAGGAGCAGATGCGCATCCAGTCGCTGGAGAAGACAGTGGAGCAGAAGACTAAAGAGAACGAGGAGCTGACCAGGATCTGCGACGACCTCATCTCCAAGATGGAGAAGATCTGA | chr4|+|[0]1793935-1794043[0]|[1]1799254-1799523[0]|[1]1799747-1799812[0]|[1]1801367-1801536[2]|[0]1801620-1801743[0]|[1]1801835-1802025[2]|[0]1802914-1803064[0]|[1]1804330-1804520[2]|[0]1804824-1804969[1]|[2]1805355-1805476[0]|[1]1805559-1805669[0]|[1]1805750-1805940[2]|[0]1806051-1806173[2]|[0]1806257-1806327[1]|[2]1806546-1806683[1]|[2]1806829-1806934[2]<==>chr4|+|[0]1739702-1739778[1]|[2]1739959-1740002[0]|[1]1740826-1740986[2]|[0]1744518-1744624[1]|[2]1744712-1744832[2]|[0]1744948-1745013[2] | MGAPACALALCVAVAIVAGASSESLGTEQRVVGRAAEVPGPEPGQQEQLVFGSGDAVELSCPPPGGGPMGPTVWVKDGTGLVPSERVLVGPQRLQVLNASHEDSGAYSCRQRLTQRVLCHFSVRVTDAPSSGDDEDGEDEAEDTGVDTGAPYWTRPERMDKKLLAVPAANTVRFRCPAAGNPTPSISWLKNGREFRGEHRIGGIKLRHQQWSLVMESVVPSDRGNYTCVVENKFGSIRQTYTLDVLERSPHRPILQAGLPANQTAVLGSDVEFHCKVYSDAQPHIQWLKHVEVNGSKVGPDGTPYVTVLKSWISESVEADVRLRLANVSERDGGEYLCRATNFIGVAEKAFWLSVHGPRAAEEELVEADEAGSVYAGILSYGVGFFLFILVVAAVTLCRLRSPPKKGLGSPTVHKISRFPLKRQVSLESNASMSSNTPLVRIARLSSGEGPTLANVSELELPADPKWELSRARLTLGKPLGEGCFGQVVMAEAIGIDKDRAAKPVTVAVKMLKDDATDKDLSDLVSEMEMMKMIGKHKNIINLLGACTQGGPLYVLVEYAAKGNLREFLRARRPPGLDYSFDTCKPPEEQLTFKDLVSCAYQVARGMEYLASQKCIHRDLAARNVLVTEDNVMKIADFGLARDVHNLDYYKKTTNGRLPVKWMAPEALFDRVYTHQSDVWSFGVLLWEIFTLGGSPYPGIPVEELFKLLKEGHRMDKPANCTHDLYMIMRECWHAAPSQRPTFKQLVEDLDRVLTVTSTDVKATQEENRELRSRCEELHGKNLELGKIMDRFEEVVYQAMEEVQKQKELSKAEIQKVLKEKDQLTTDLNSMEKSFSDLFKRFEKQKEVIEGYRKNEESLKKCVEDYLARITQEGQRYQALKAHAEEKLQLANEEIAQVRSKAQAEALALQASLRKEQMRIQSLEKTVEQKTKENEELTRICDDLISKMEKI* | FGFR3--TACC3 | 29 | LH00995:25:23T55JLT4:1:1274:4325:19762,LH00995:25:23T55JLT4:1:1425:14009:16694,LH00995:25:23T55JLT4:1:2155:38578:9786,LH00995:25:23T55JLT4:1:2240:21427:11551,LH00995:25:23T55JLT4:1:2260:19656:21150,LH00995:25:23T55JLT4:1:2326:43003:28969,LH00995:25:23T55JLT4:1:2397:12876:7418,LH00995:25:23T55JLT4:1:2437:11711:1112,LH00995:25:23T55JLT4:2:1386:11032:24933,LH00995:25:23T55JLT4:2:1425:5538:15279,LH00995:25:23T55JLT4:2:2251:43934:10010,LH00995:25:23T55JLT4:2:2482:35512:2429,LH00995:25:23T55JLT4:3:1112:27519:23588,LH00995:25:23T55JLT4:3:1132:27462:10907,LH00995:25:23T55JLT4:3:1202:3953:13345,LH00995:25:23T55JLT4:3:1285:50940:19762,LH00995:25:23T55JLT4:3:1313:9292:23518,LH00995:25:23T55JLT4:3:2158:23862:16722,LH00995:25:23T55JLT4:4:1149:34468:10907,LH00995:25:23T55JLT4:4:1313:17552:29025,LH00995:25:23T55JLT4:4:1479:3848:18179,LH00995:25:23T55JLT4:4:2136:30569:15895,LH00995:25:23T55JLT4:4:2145:8742:10823,LH00995:25:23T55JLT4:4:2202:38756:27553,LH00995:25:23T55JLT4:6:2429:3451:6899,LH00995:25:23T55JLT4:7:2221:9721:4587,LH00995:25:23T55JLT4:7:2266:6954:24905,LH00995:25:23T55JLT4:8:1194:30917:29109,LH00995:25:23T55JLT4:8:1470:26030:14059 | YES_LDAS | GT | 1.8892 | chr4:1806934:+ | FGFR3^ENSG00000068078.20 | I-set|48-110|6.2e-06^ig|49-110|5.6e-05^Ig_3|51-110|1.4e-06^Ig_2|52-115|3.4e-06^V-set|53-80|4.4^C2-set_2|54-85|2.3^Ig_4|56-116|0.006^V-set|94-110|0.043^Ig_6|94-119|0.0043^V-set_CD47|97-111|4.6^ig|161-236|3.6e-11^V-set|164-192|0.27^I-set|166-245|2.5e-18^Ig_3|166-232|1.1e-15^Ig_2|166-240|6.1e-13^C2-set_2|170-195|3.4e-05^Ig_4|185-233|0.024^V-set|206-245|0.00013^V-set_CD47|208-245|0.00099^Ig_6|213-245|0.019^Ig_2|253-342|1.6e-06^I-set|260-355|4.5e-14^Ig_3|260-342|1.8e-13^V-set|260-356|1.1e-07^ig|264-348|2.3e-07^C2-set_2|268-291|0.35^V-set_CD47|274-343|0.026^Ig_4|321-340|1.3^Ig_6|323-341|0.33^FGFR3_TM|371-401|2.3e-17^PK_Tyr_Ser-Thr|474-750|6.3e-107^Pkinase|477-748|4.2e-47^Pkinase_fungal|592-687|1.8e-05 | . | INFRAME | AG | 1.7819 | chr4:1739702:+ | TACC3^ENSG00000013810.20 | 0 | . | ONLY_REF_SPLICE | ["ChimerKB","ChimerSeq","TCGA_StarF2019","CCLE_StarF2019","YOSHIHARA_TCGA","Klijn_CellLines","DEEPEST2019","GUO2018CR_TCGA","ChimerPub","TumorFusionsNAR2018","Cosmic","INTRACHROMOSOMAL[chr4:0.05Mb]","LOCAL_REARRANGEMENT:+:[48122]"] | False | chr4:1806934-chr4:1739702 | 29.0 | 0.0 | 29 | 1173_PCB | STAR-Fusion | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| fp_audit | 1173_Q7O | fusion | ERG--TMPRSS2 | TMPRSS2--ERG | ERG--TMPRSS2 | FP | FP | Arriba | dev_rna_exp0016 | 1173_Q7O | altera_exact | 1173 | clinical | patient | sarcoma | Sarcoma | 54 | unknown | False | 1173_Q7O_T1_RNA_SLD_01 | tRNA | altera_inhouse | ssf | 31.40 | 38.00 | 39.33 | AIH_Ext13_RNA | G02 | False | dev_rna_exp0016_lib_s90 | 100.00 | 88.32 | dev_rna_exp0016 | B12 | False | 1173_Q7O_T1_RNA_SLD_01_A23T55JLT4_2 | dev_rna_exp0016 | 1,2,3,4,5,6,7,8 | 1.00 | False | nfcore_rnafusion | 1173_Q7O_T1_RNA_SLD_01_A23T55JLT4_2 | BND | chr21 | chr21 | TMPRSS2 | ERG | 41508081 | 38584945 | chr21:41508081-chr21:38584945 | -,- | STAR-Fusion | 1 | 0 | 6 | 0.0243 | 6 | FAIL | TMPRSS2--ERG | ERG--TMPRSS2 | ["ChimerKB","Larsson_TCGA","ChimerSeq","TCGA_StarF2019","CCLE_StarF2019","YOSHIHARA_TCGA","chimerdb_pubmed","DEEPEST2019","GUO2018CR_TCGA","ChimerPub","TumorFusionsNAR2018","Cosmic","INTRACHROMOSOMAL[chr21:2.80Mb]"] | ONLY_REF_SPLICE | YES_LDAS | 1.6895 | False | False | False | GT | AG | 6 | Read count too low: 6 < 8 | TCGA_StarF2019;ChimerKB;ChimerPub;ChimerSeq;Cosmic;CCLE_StarF2019;DEEPEST2019;GUO2018;TumorFusionsNAR2018;YOSHIHARA_TCGA | 0 | . | . | . | . | 0.0243 | FAIL | . | . | . | TMPRSS2--ERG | 6 | LH00995:25:23T55JLT4:1:2358:45932:29137,LH00995:25:23T55JLT4:2:2327:21767:13793,LH00995:25:23T55JLT4:4:1144:17188:2079,LH00995:25:23T55JLT4:4:2115:4471:1378,LH00995:25:23T55JLT4:7:2374:13046:15615,LH00995:25:23T55JLT4:8:2137:24760:26628 | YES_LDAS | GT | 1.6895 | chr21:41508081:- | TMPRSS2^ENSG00000184012.14 | . | . | . | AG | 1.9219 | chr21:38584945:- | ERG^ENSG00000157554.19 | 0 | . | ONLY_REF_SPLICE | ["ChimerKB","Larsson_TCGA","ChimerSeq","TCGA_StarF2019","CCLE_StarF2019","YOSHIHARA_TCGA","chimerdb_pubmed","DEEPEST2019","GUO2018CR_TCGA","ChimerPub","TumorFusionsNAR2018","Cosmic","INTRACHROMOSOMAL[chr21:2.80Mb]"] | False | chr21:41508081-chr21:38584945 | 6.0 | 0.0 | Read count too low: 6 < 8 | 6 | 1173_Q7O | STAR-Fusion | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| fp_audit | 1173_Q7O | fusion | ERG--TMPRSS2 | TMPRSS2--ERG | ERG--TMPRSS2 | FP | FP | Arriba | dev_rna_exp0016 | 1173_Q7O | altera_exact | 1173 | clinical | patient | sarcoma | Sarcoma | 54 | unknown | False | 1173_Q7O_T1_RNA_SLD_01 | tRNA | altera_inhouse | ssf | 31.40 | 38.00 | 39.33 | AIH_Ext13_RNA | G02 | False | dev_rna_exp0016_lib_s90 | 100.00 | 88.32 | dev_rna_exp0016 | B12 | False | 1173_Q7O_T1_RNA_SLD_01_A23T55JLT4_2 | dev_rna_exp0016 | 1,2,3,4,5,6,7,8 | 1.00 | False | nfcore_rnafusion | 1173_Q7O_T1_RNA_SLD_01_A23T55JLT4_2 | BND | chr21 | chr21 | TMPRSS2 | ERG | 41508081 | 38445621 | chr21:41508081-chr21:38445621 | -,- | STAR-Fusion | 1 | 0 | 3 | 0.0122 | 3 | FAIL | TMPRSS2--ERG | ERG--TMPRSS2 | ["ChimerKB","Larsson_TCGA","ChimerSeq","TCGA_StarF2019","CCLE_StarF2019","YOSHIHARA_TCGA","chimerdb_pubmed","DEEPEST2019","GUO2018CR_TCGA","ChimerPub","TumorFusionsNAR2018","Cosmic","INTRACHROMOSOMAL[chr21:2.80Mb]"] | ONLY_REF_SPLICE | YES_LDAS | 1.6895 | False | False | False | GT | AG | 3 | Read count too low: 3 < 8 | TCGA_StarF2019;ChimerKB;ChimerPub;ChimerSeq;Cosmic;CCLE_StarF2019;DEEPEST2019;GUO2018;TumorFusionsNAR2018;YOSHIHARA_TCGA | 0 | . | . | . | . | 0.0122 | FAIL | . | . | . | TMPRSS2--ERG | 3 | LH00995:25:23T55JLT4:1:2435:11129:24765,LH00995:25:23T55JLT4:3:1151:18636:3550,LH00995:25:23T55JLT4:5:2433:35852:9856 | YES_LDAS | GT | 1.6895 | chr21:41508081:- | TMPRSS2^ENSG00000184012.14 | . | . | . | AG | 1.9656 | chr21:38445621:- | ERG^ENSG00000157554.19 | 0 | . | ONLY_REF_SPLICE | ["ChimerKB","Larsson_TCGA","ChimerSeq","TCGA_StarF2019","CCLE_StarF2019","YOSHIHARA_TCGA","chimerdb_pubmed","DEEPEST2019","GUO2018CR_TCGA","ChimerPub","TumorFusionsNAR2018","Cosmic","INTRACHROMOSOMAL[chr21:2.80Mb]"] | False | chr21:41508081-chr21:38445621 | 3.0 | 0.0 | Read count too low: 3 < 8 | 3 | 1173_Q7O | STAR-Fusion | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| fp_audit | 1173_Q7O | fusion | ERG--TMPRSS2 | TMPRSS2--ERG | ERG--TMPRSS2 | FP | FP | Arriba | dev_rna_exp0016 | 1173_Q7O | altera_exact | 1173 | clinical | patient | sarcoma | Sarcoma | 54 | unknown | False | 1173_Q7O_T1_RNA_SLD_01 | tRNA | altera_inhouse | ssf | 31.40 | 38.00 | 39.33 | AIH_Ext13_RNA | G02 | False | dev_rna_exp0016_lib_s90 | 100.00 | 88.32 | dev_rna_exp0016 | B12 | False | 1173_Q7O_T1_RNA_SLD_01_A23T55JLT4_2 | dev_rna_exp0016 | 1,2,3,4,5,6,7,8 | 1.00 | False | nfcore_rnafusion | 1173_Q7O_T1_RNA_SLD_01_A23T55JLT4_2 | BND | chr21 | chr21 | TMPRSS2 | ERG | 41508081 | 38584945 | chr21:41508081-chr21:38584945 | -,- | STAR-Fusion | 1 | 0 | 6 | 0.0243 | 6 | FAIL | TMPRSS2--ERG | ERG--TMPRSS2 | ["ChimerKB","Larsson_TCGA","ChimerSeq","TCGA_StarF2019","CCLE_StarF2019","YOSHIHARA_TCGA","chimerdb_pubmed","DEEPEST2019","GUO2018CR_TCGA","ChimerPub","TumorFusionsNAR2018","Cosmic","INTRACHROMOSOMAL[chr21:2.80Mb]"] | ONLY_REF_SPLICE | YES_LDAS | 1.6895 | False | False | False | GT | AG | 6 | Read count too low: 6 < 8 | TCGA_StarF2019;ChimerKB;ChimerPub;ChimerSeq;Cosmic;CCLE_StarF2019;DEEPEST2019;GUO2018;TumorFusionsNAR2018;YOSHIHARA_TCGA | 0 | . | . | . | . | 0.0243 | FAIL | . | . | . | TMPRSS2--ERG | 6 | LH00995:25:23T55JLT4:1:2358:45932:29137,LH00995:25:23T55JLT4:2:2327:21767:13793,LH00995:25:23T55JLT4:4:1144:17188:2079,LH00995:25:23T55JLT4:4:2115:4471:1378,LH00995:25:23T55JLT4:7:2374:13046:15615,LH00995:25:23T55JLT4:8:2137:24760:26628 | YES_LDAS | GT | 1.6895 | chr21:41508081:- | TMPRSS2^ENSG00000184012.14 | . | . | . | AG | 1.9219 | chr21:38584945:- | ERG^ENSG00000157554.19 | 0 | . | ONLY_REF_SPLICE | ["ChimerKB","Larsson_TCGA","ChimerSeq","TCGA_StarF2019","CCLE_StarF2019","YOSHIHARA_TCGA","chimerdb_pubmed","DEEPEST2019","GUO2018CR_TCGA","ChimerPub","TumorFusionsNAR2018","Cosmic","INTRACHROMOSOMAL[chr21:2.80Mb]"] | False | chr21:41508081-chr21:38584945 | 6.0 | 0.0 | Read count too low: 6 < 8 | 6 | 1173_Q7O | STAR-Fusion | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| fp_audit | 1173_Q7O | fusion | ERG--TMPRSS2 | TMPRSS2--ERG | ERG--TMPRSS2 | FP | FP | Arriba | dev_rna_exp0016 | 1173_Q7O | altera_exact | 1173 | clinical | patient | sarcoma | Sarcoma | 54 | unknown | False | 1173_Q7O_T1_RNA_SLD_01 | tRNA | altera_inhouse | ssf | 31.40 | 38.00 | 39.33 | AIH_Ext13_RNA | G02 | False | dev_rna_exp0016_lib_s90 | 100.00 | 88.32 | dev_rna_exp0016 | B12 | False | 1173_Q7O_T1_RNA_SLD_01_A23T55JLT4_2 | dev_rna_exp0016 | 1,2,3,4,5,6,7,8 | 1.00 | False | nfcore_rnafusion | 1173_Q7O_T1_RNA_SLD_01_A23T55JLT4_2 | BND | chr21 | chr21 | TMPRSS2 | ERG | 41508081 | 38445621 | chr21:41508081-chr21:38445621 | -,- | STAR-Fusion | 1 | 0 | 3 | 0.0122 | 3 | FAIL | TMPRSS2--ERG | ERG--TMPRSS2 | ["ChimerKB","Larsson_TCGA","ChimerSeq","TCGA_StarF2019","CCLE_StarF2019","YOSHIHARA_TCGA","chimerdb_pubmed","DEEPEST2019","GUO2018CR_TCGA","ChimerPub","TumorFusionsNAR2018","Cosmic","INTRACHROMOSOMAL[chr21:2.80Mb]"] | ONLY_REF_SPLICE | YES_LDAS | 1.6895 | False | False | False | GT | AG | 3 | Read count too low: 3 < 8 | TCGA_StarF2019;ChimerKB;ChimerPub;ChimerSeq;Cosmic;CCLE_StarF2019;DEEPEST2019;GUO2018;TumorFusionsNAR2018;YOSHIHARA_TCGA | 0 | . | . | . | . | 0.0122 | FAIL | . | . | . | TMPRSS2--ERG | 3 | LH00995:25:23T55JLT4:1:2435:11129:24765,LH00995:25:23T55JLT4:3:1151:18636:3550,LH00995:25:23T55JLT4:5:2433:35852:9856 | YES_LDAS | GT | 1.6895 | chr21:41508081:- | TMPRSS2^ENSG00000184012.14 | . | . | . | AG | 1.9656 | chr21:38445621:- | ERG^ENSG00000157554.19 | 0 | . | ONLY_REF_SPLICE | ["ChimerKB","Larsson_TCGA","ChimerSeq","TCGA_StarF2019","CCLE_StarF2019","YOSHIHARA_TCGA","chimerdb_pubmed","DEEPEST2019","GUO2018CR_TCGA","ChimerPub","TumorFusionsNAR2018","Cosmic","INTRACHROMOSOMAL[chr21:2.80Mb]"] | False | chr21:41508081-chr21:38445621 | 3.0 | 0.0 | Read count too low: 3 < 8 | 3 | 1173_Q7O | STAR-Fusion | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| fp_audit | 1173_RPC | fusion | AKT3--SDCCAG8 | AKT3--SDCCAG8 | AKT3--SDCCAG8 | FP | FP | Arriba | dev_rna_exp0016 | 1173_RPC | altera_exact | 1173 | clinical | patient | sarcoma | Sarcoma | 62 | unknown | False | 1173_RPC_T1_RNA_SLD_01 | tRNA | altera_inhouse | ssf | 71.30 | 35.00 | 54.89 | AIH_Ext12_RNA | B02 | False | dev_rna_exp0016_lib_s10 | 200.00 | 41.29 | dev_rna_exp0016 | B02 | False | 1173_RPC_T1_RNA_SLD_01_A23T55JLT4_1 | dev_rna_exp0016 | 1,2,3,4,5,6,7,8 | 1.00 | False | nfcore_rnafusion | 1173_RPC_T1_RNA_SLD_01_A23T55JLT4_1 | BND | chr1 | chr1 | AKT3 | SDCCAG8 | 243843125 | 243426427 | chr1:243843125-chr1:243426427 | -,+ | STAR-Fusion | 1 | 0 | 1 | 0.0364 | 1 | FAIL | out-of-frame | AKT3--SDCCAG8 | AKT3--SDCCAG8 | ["ChimerSeq","TCGA_StarF2019","INTRACHROMOSOMAL[chr1:0.01Mb]","NEIGHBORS_OVERLAP:-:+:[11858]"] | ONLY_REF_SPLICE | YES_LDAS | 1.6402 | False | False | True | GT | AG | 1 | False | Read count too low: 1 < 8 | TCGA_StarF2019;ChimerSeq | 0 | ENST00000680056.1 | 1-46 | ENST00000435549.1 | 957-1245 | 0.0364 | FAIL | atgagcgatgttaccattgtgaaagaaggttgggttcagaagagggATCTGAAATAGCTCAACTCAGTCAAGAAAAAAGGTATACATATGATAAATTGGGAAAGTTACAGAGAAGAAATGAAGAATTGGAGGAACAGTGTGTCCAGCATGGGAGAGTACATGAGACGATGAAGCAAAGGCTAAGGCAGCTGGATAAGCACAGCCAGGCCACAGCCCAGCAGCTGGTGCAGCTCCTCAGCAAGCAGAACCAGCTTCTCCTGGAGAGGCAGAGCCTGTCGGAAGAGGTGGACCGGCTGCGGACCCAGTTACCCAGCATGCCACAATCTGATTGCTGA | chr1|-|[0]243843125-243843170[0]<==>chr1|+|[2]243426427-243426558[1]|[2]243489014-243489140[2]|[0]243499756-243499785[2] | MSDVTIVKEGWVQKRDLK*LNSVKKKGIHMINWESYREEMKNWRNSVSSMGEYMRR*SKG*GSWISTARPQPSSWCSSSASRTSFSWRGRACRKRWTGCGPSYPACHNLIA | AKT3--SDCCAG8 | 1 | LH00995:25:23T55JLT4:5:1351:25375:2724 | YES_LDAS | GT | 1.6402 | chr1:243843125:- | AKT3^ENSG00000117020.19 | PH-PARTIAL|16-46~|9.4e-08^Pkinase-PARTIAL|33-46~|0.99 | . | FRAMESHIFT | AG | 1.8892 | chr1:243426427:+ | SDCCAG8^ENSG00000054282.16 | 0 | . | ONLY_REF_SPLICE | ["ChimerSeq","TCGA_StarF2019","INTRACHROMOSOMAL[chr1:0.01Mb]","NEIGHBORS_OVERLAP:-:+:[11858]"] | False | chr1:243843125-chr1:243426427 | 1.0 | 0.0 | Read count too low: 1 < 8 | 1 | 1173_RPC | STAR-Fusion | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| fp_audit | 1173_RPC | fusion | AKT3--SDCCAG8 | AKT3--SDCCAG8 | AKT3--SDCCAG8 | FP | FP | Arriba | dev_rna_exp0016 | 1173_RPC | altera_exact | 1173 | clinical | patient | sarcoma | Sarcoma | 62 | unknown | False | 1173_RPC_T1_RNA_SLD_01 | tRNA | altera_inhouse | ssf | 71.30 | 35.00 | 54.89 | AIH_Ext12_RNA | B02 | False | dev_rna_exp0016_lib_s10 | 200.00 | 41.29 | dev_rna_exp0016 | B02 | False | 1173_RPC_T1_RNA_SLD_01_A23T55JLT4_1 | dev_rna_exp0016 | 1,2,3,4,5,6,7,8 | 1.00 | False | nfcore_rnafusion | 1173_RPC_T1_RNA_SLD_01_A23T55JLT4_1 | BND | chr1 | chr1 | AKT3 | SDCCAG8 | 243695591 | 243378721 | chr1:243695591-chr1:243378721 | -,+ | STAR-Fusion | 1 | 0 | 1 | 0.0364 | 1 | FAIL | out-of-frame | AKT3--SDCCAG8 | AKT3--SDCCAG8 | ["ChimerSeq","TCGA_StarF2019","INTRACHROMOSOMAL[chr1:0.01Mb]","NEIGHBORS_OVERLAP:-:+:[11858]"] | ONLY_REF_SPLICE | NO_LDAS | 1.4566 | False | False | True | GT | AG | 1 | False | Read count too low: 1 < 8 | TCGA_StarF2019;ChimerSeq | 0 | ENST00000263826.12 | 1-172 | ENST00000366541.8 | 1474-2142 | 0.0364 | FAIL | atgagcgatgttaccattgtgaaagaaggttgggttcagaagaggggagaatatataaaaaactggaggccaagatacttccttttgaagacagatggctcattcataggatataaagagaaacctcaagatgtggatttaccttatcccctcaacaacttttcagtggcaaGAAATAGAGAAATTGAGAATAGAACTGGATGAAAGCAAACAACACTTGGAACAGGAGCAGCAGAAGGCAGCCCTGGCCAGAGAGGAGTGCCTGAGACTAACAGAACTGCTGGGCGAATCTGAGCACCAACTGCACCTCACCAGACAGGAAAAAGATAGCATTCAGCAGAGCTTTAGCAAGGAAGCAAAGGCCCAAGCCCTTCAGGCCCAGCAAAGAGAGCAGGAGCTGACACAGAAGATACAGCAAATGGAGGCCCAGCATGACAAAACTGAAAATGAACAGTATTTGTTGCTGACCTCCCAGAATACATTTTTGACAAAGTTAAAGGAAGAATGCTGTACATTAGCCAAGAAACTGGAACAAATCTCTCAAAAAACCAGATCTGAAATAGCTCAACTCAGTCAAGAAAAAAGGTATACATATGATAAATTGGGAAAGTTACAGAGAAGAAATGAAGAATTGGAGGAACAGTGTGTCCAGCATGGGAGAGTACATGAGACGATGAAGCAAAGGCTAAGGCAGCTGGATAAGCACAGCCAGGCCACAGCCCAGCAGCTGGTGCAGCTCCTCAGCAAGCAGAACCAGCTTCTCCTGGAGAGGCAGAGCCTGTCGGAAGAGGTGGACCGGCTGCGGACCCAGTTACCCAGCATGCCACAATCTGATTGCTGA | chr1|-|[0]243695591-243695716[1]|[0]243843125-243843170[0]<==>chr1|+|[0]243378721-243378863[1]|[2]243415702-243415829[0]|[1]243417968-243418076[1]|[2]243426427-243426558[1]|[2]243489014-243489140[2]|[0]243499756-243499785[2] | MSDVTIVKEGWVQKRGEYIKNWRPRYFLLKTDGSFIGYKEKPQDVDLPYPLNNFSVARNREIENRTG*KQTTLGTGAAEGSPGQRGVPETNRTAGRI*APTAPHQTGKR*HSAEL*QGSKGPSPSGPAKRAGADTEDTANGGPA*QN*K*TVFVADLPEYIFDKVKGRMLYISQETGTNLSKNQI*NSSTQSRKKVYI**IGKVTEKK*RIGGTVCPAWEST*DDEAKAKAAG*AQPGHSPAAGAAPQQAEPASPGEAEPVGRGGPAADPVTQHATI*LL | AKT3--SDCCAG8 | 1 | LH00995:25:23T55JLT4:7:2497:24307:4881 | NO_LDAS | GT | 1.9656 | chr1:243695591:- | AKT3^ENSG00000117020.19 | PH|7-105|7.6e-18^PH_11|8-103|0.00038^Pkinase|74-119|1.2^FTA2-PARTIAL|143-172~|0.00028^Pkinase-PARTIAL|150-172~|7.8e-81^PK_Tyr_Ser-Thr-PARTIAL|151-172~|7.1e-40^Kinase-like-PARTIAL|152-172~|0.24 | . | FRAMESHIFT | AG | 1.4566 | chr1:243378721:+ | SDCCAG8^ENSG00000054282.16 | 0 | . | ONLY_REF_SPLICE | ["ChimerSeq","TCGA_StarF2019","INTRACHROMOSOMAL[chr1:0.01Mb]","NEIGHBORS_OVERLAP:-:+:[11858]"] | False | chr1:243695591-chr1:243378721 | 1.0 | 0.0 | Read count too low: 1 < 8 | 1 | 1173_RPC | STAR-Fusion | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| fp_audit | 1173_RPC | fusion | AKT3--SDCCAG8 | AKT3--SDCCAG8 | AKT3--SDCCAG8 | FP | FP | Arriba | dev_rna_exp0016 | 1173_RPC | altera_exact | 1173 | clinical | patient | sarcoma | Sarcoma | 62 | unknown | False | 1173_RPC_T1_RNA_SLD_01 | tRNA | altera_inhouse | ssf | 71.30 | 35.00 | 54.89 | AIH_Ext12_RNA | B02 | False | dev_rna_exp0016_lib_s10 | 200.00 | 41.29 | dev_rna_exp0016 | B02 | False | 1173_RPC_T1_RNA_SLD_01_A23T55JLT4_1 | dev_rna_exp0016 | 1,2,3,4,5,6,7,8 | 1.00 | False | nfcore_rnafusion | 1173_RPC_T1_RNA_SLD_01_A23T55JLT4_1 | BND | chr1 | chr1 | AKT3 | SDCCAG8 | 243843125 | 243426427 | chr1:243843125-chr1:243426427 | -,+ | STAR-Fusion | 1 | 0 | 1 | 0.0364 | 1 | FAIL | out-of-frame | AKT3--SDCCAG8 | AKT3--SDCCAG8 | ["ChimerSeq","TCGA_StarF2019","INTRACHROMOSOMAL[chr1:0.01Mb]","NEIGHBORS_OVERLAP:-:+:[11858]"] | ONLY_REF_SPLICE | YES_LDAS | 1.6402 | False | False | True | GT | AG | 1 | False | Read count too low: 1 < 8 | TCGA_StarF2019;ChimerSeq | 0 | ENST00000680056.1 | 1-46 | ENST00000435549.1 | 957-1245 | 0.0364 | FAIL | atgagcgatgttaccattgtgaaagaaggttgggttcagaagagggATCTGAAATAGCTCAACTCAGTCAAGAAAAAAGGTATACATATGATAAATTGGGAAAGTTACAGAGAAGAAATGAAGAATTGGAGGAACAGTGTGTCCAGCATGGGAGAGTACATGAGACGATGAAGCAAAGGCTAAGGCAGCTGGATAAGCACAGCCAGGCCACAGCCCAGCAGCTGGTGCAGCTCCTCAGCAAGCAGAACCAGCTTCTCCTGGAGAGGCAGAGCCTGTCGGAAGAGGTGGACCGGCTGCGGACCCAGTTACCCAGCATGCCACAATCTGATTGCTGA | chr1|-|[0]243843125-243843170[0]<==>chr1|+|[2]243426427-243426558[1]|[2]243489014-243489140[2]|[0]243499756-243499785[2] | MSDVTIVKEGWVQKRDLK*LNSVKKKGIHMINWESYREEMKNWRNSVSSMGEYMRR*SKG*GSWISTARPQPSSWCSSSASRTSFSWRGRACRKRWTGCGPSYPACHNLIA | AKT3--SDCCAG8 | 1 | LH00995:25:23T55JLT4:5:1351:25375:2724 | YES_LDAS | GT | 1.6402 | chr1:243843125:- | AKT3^ENSG00000117020.19 | PH-PARTIAL|16-46~|9.4e-08^Pkinase-PARTIAL|33-46~|0.99 | . | FRAMESHIFT | AG | 1.8892 | chr1:243426427:+ | SDCCAG8^ENSG00000054282.16 | 0 | . | ONLY_REF_SPLICE | ["ChimerSeq","TCGA_StarF2019","INTRACHROMOSOMAL[chr1:0.01Mb]","NEIGHBORS_OVERLAP:-:+:[11858]"] | False | chr1:243843125-chr1:243426427 | 1.0 | 0.0 | Read count too low: 1 < 8 | 1 | 1173_RPC | STAR-Fusion | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| fp_audit | 1173_RPC | fusion | AKT3--SDCCAG8 | AKT3--SDCCAG8 | AKT3--SDCCAG8 | FP | FP | Arriba | dev_rna_exp0016 | 1173_RPC | altera_exact | 1173 | clinical | patient | sarcoma | Sarcoma | 62 | unknown | False | 1173_RPC_T1_RNA_SLD_01 | tRNA | altera_inhouse | ssf | 71.30 | 35.00 | 54.89 | AIH_Ext12_RNA | B02 | False | dev_rna_exp0016_lib_s10 | 200.00 | 41.29 | dev_rna_exp0016 | B02 | False | 1173_RPC_T1_RNA_SLD_01_A23T55JLT4_1 | dev_rna_exp0016 | 1,2,3,4,5,6,7,8 | 1.00 | False | nfcore_rnafusion | 1173_RPC_T1_RNA_SLD_01_A23T55JLT4_1 | BND | chr1 | chr1 | AKT3 | SDCCAG8 | 243695591 | 243378721 | chr1:243695591-chr1:243378721 | -,+ | STAR-Fusion | 1 | 0 | 1 | 0.0364 | 1 | FAIL | out-of-frame | AKT3--SDCCAG8 | AKT3--SDCCAG8 | ["ChimerSeq","TCGA_StarF2019","INTRACHROMOSOMAL[chr1:0.01Mb]","NEIGHBORS_OVERLAP:-:+:[11858]"] | ONLY_REF_SPLICE | NO_LDAS | 1.4566 | False | False | True | GT | AG | 1 | False | Read count too low: 1 < 8 | TCGA_StarF2019;ChimerSeq | 0 | ENST00000263826.12 | 1-172 | ENST00000366541.8 | 1474-2142 | 0.0364 | FAIL | atgagcgatgttaccattgtgaaagaaggttgggttcagaagaggggagaatatataaaaaactggaggccaagatacttccttttgaagacagatggctcattcataggatataaagagaaacctcaagatgtggatttaccttatcccctcaacaacttttcagtggcaaGAAATAGAGAAATTGAGAATAGAACTGGATGAAAGCAAACAACACTTGGAACAGGAGCAGCAGAAGGCAGCCCTGGCCAGAGAGGAGTGCCTGAGACTAACAGAACTGCTGGGCGAATCTGAGCACCAACTGCACCTCACCAGACAGGAAAAAGATAGCATTCAGCAGAGCTTTAGCAAGGAAGCAAAGGCCCAAGCCCTTCAGGCCCAGCAAAGAGAGCAGGAGCTGACACAGAAGATACAGCAAATGGAGGCCCAGCATGACAAAACTGAAAATGAACAGTATTTGTTGCTGACCTCCCAGAATACATTTTTGACAAAGTTAAAGGAAGAATGCTGTACATTAGCCAAGAAACTGGAACAAATCTCTCAAAAAACCAGATCTGAAATAGCTCAACTCAGTCAAGAAAAAAGGTATACATATGATAAATTGGGAAAGTTACAGAGAAGAAATGAAGAATTGGAGGAACAGTGTGTCCAGCATGGGAGAGTACATGAGACGATGAAGCAAAGGCTAAGGCAGCTGGATAAGCACAGCCAGGCCACAGCCCAGCAGCTGGTGCAGCTCCTCAGCAAGCAGAACCAGCTTCTCCTGGAGAGGCAGAGCCTGTCGGAAGAGGTGGACCGGCTGCGGACCCAGTTACCCAGCATGCCACAATCTGATTGCTGA | chr1|-|[0]243695591-243695716[1]|[0]243843125-243843170[0]<==>chr1|+|[0]243378721-243378863[1]|[2]243415702-243415829[0]|[1]243417968-243418076[1]|[2]243426427-243426558[1]|[2]243489014-243489140[2]|[0]243499756-243499785[2] | MSDVTIVKEGWVQKRGEYIKNWRPRYFLLKTDGSFIGYKEKPQDVDLPYPLNNFSVARNREIENRTG*KQTTLGTGAAEGSPGQRGVPETNRTAGRI*APTAPHQTGKR*HSAEL*QGSKGPSPSGPAKRAGADTEDTANGGPA*QN*K*TVFVADLPEYIFDKVKGRMLYISQETGTNLSKNQI*NSSTQSRKKVYI**IGKVTEKK*RIGGTVCPAWEST*DDEAKAKAAG*AQPGHSPAAGAAPQQAEPASPGEAEPVGRGGPAADPVTQHATI*LL | AKT3--SDCCAG8 | 1 | LH00995:25:23T55JLT4:7:2497:24307:4881 | NO_LDAS | GT | 1.9656 | chr1:243695591:- | AKT3^ENSG00000117020.19 | PH|7-105|7.6e-18^PH_11|8-103|0.00038^Pkinase|74-119|1.2^FTA2-PARTIAL|143-172~|0.00028^Pkinase-PARTIAL|150-172~|7.8e-81^PK_Tyr_Ser-Thr-PARTIAL|151-172~|7.1e-40^Kinase-like-PARTIAL|152-172~|0.24 | . | FRAMESHIFT | AG | 1.4566 | chr1:243378721:+ | SDCCAG8^ENSG00000054282.16 | 0 | . | ONLY_REF_SPLICE | ["ChimerSeq","TCGA_StarF2019","INTRACHROMOSOMAL[chr1:0.01Mb]","NEIGHBORS_OVERLAP:-:+:[11858]"] | False | chr1:243695591-chr1:243378721 | 1.0 | 0.0 | Read count too low: 1 < 8 | 1 | 1173_RPC | STAR-Fusion | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| fp_audit | 1173_RQT | fusion | AKT3--SDCCAG8 | SDCCAG8--AKT3 | AKT3--SDCCAG8 | FP | FP | Arriba | dev_rna_exp0016 | 1173_RQT | altera_exact | 1173 | clinical | patient | sarcoma | Sarcoma | 84 | unknown | False | 1173_RQT_T1_RNA_SLD_01 | tRNA | altera_inhouse | ssf | 47.20 | 35.00 | 22.07 | AIH_Ext12_RNA | G02 | False | dev_rna_exp0016_lib_s15 | 200.00 | 28.48 | dev_rna_exp0016 | G02 | False | 1173_RQT_T1_RNA_SLD_01_A23T55JLT4_1 | dev_rna_exp0016 | 1,2,3,4,5,6,7,8 | 1.00 | False | nfcore_rnafusion | 1173_RQT_T1_RNA_SLD_01_A23T55JLT4_2 | BND | chr1 | chr1 | SDCCAG8 | AKT3 | 243378863 | 243664883 | chr1:243378863-chr1:243664883 | +,- | STAR-Fusion | 1 | 0 | 1 | 0.0052 | 1 | FAIL | out-of-frame | SDCCAG8--AKT3 | AKT3--SDCCAG8 | ["INTRACHROMOSOMAL[chr1:0.01Mb]","NEIGHBORS_OVERLAP:+:-:[11858]"] | ONLY_REF_SPLICE | NO_LDAS | 1.7968 | False | False | True | GT | AG | 1 | False | Read count too low: 1 < 8 | 0 | ENST00000366541.8 | 1-1616 | ENST00000680056.1 | 47-1314 | 0.0052 | FAIL | atggcgaagtccccggagaactctaccctggaggagattctggggcagtatcaacggagtctccgggaacatgccagcagaagcattcaccaactgacatgtgccctgaaagaaggcgatgtcactattggagaagatgcaccaaatctttcttttagcaccagtgtgggaaatgaggacgccaggacagcctggcccgaattacaacagagccatgctgttaatcagctcaaagatttgttgcgccaacaagcagataaggaaagtgaagtatctccgtcaagaagaagaaaaatgtcccccttgaggtcattagaacatgaggaaaccaatatgcctactatgcacgaccttgttcatactattaatgaccagtctcaatatattcatcatttagaggcagaagttaagttctgcaaggaggaactctctggaatgaaaaataaaatacaagtagttgtgcttgaaaacgaagggctccagcaacagctaaaatctcaaagacaagaggagacactgagggaacaaacacttctggatgcatccggaaacatgcacaattcttggattacaacaggtgaagattctggggtgggcgaaacctccaaaagaccattttcccatgacaatgcagattttggcaaagctgcatctgctggtgagcagctagaactggagaagctaaaacttacttatgaggaaaagtgtgaaattgaggaatcccaattgaagtttttgaggaacgacttagctgaatatcagagaacttgtgaagatcttaaagagcaactaaagcataaagaatttcttctggctgctaatacttgtaaccgtgttggtggtctttgtttgaaatgtgctcagcatgaagctgttctttcccaaacccatactaatgttcatatgcagaccatcgaaagactggttaaagaaagagatgacttgatgtctgcactagtttccgtaaggagcagcttggcagatacgcagcaaagagaagcaagtgcttatgaacaggtgaaacaagttttgcaaatatctgaggaagccaattttgaaaaaaccaaggctttaatccagtgtgaccagttgaggaaggagctggagaggcaggcggagcgacttgaaaaagaacttgcatctcagcaagagaaaagggccattgagaaagacatgatgaaaaaggaaataacgaaagaaagggagtacatgggatcaaagatgttgatcttgtctcagaatattgcccaactggaggcccaggtggaaaaggttacaaaggaaaagatttcagctattaatcaactggaggaaattcaaagccagctggcttctcgggaaatggatgtcacaaaggtgtgtggagaaatgcgctatcagctgaataaaaccaacatggagaaggatgaggcagaaaaggagcacagagagttcagagcaaaaactaacagggatcttgaaattaaagatcaggaaatagagaaattgagaatagaactggatgaaagcaaacaacacttggaacaggagcagcagaaggcagccctggccagagaggagtgcctgagactaacagaactgctgggcgaatctgagcaccaactgcacctcaccagAATGCCAGTTAATGAAAACAGAACGACCAAAGCCAAACACATTTATAATCAGATGTCTCCAGTGGACTACTGTTATAGAGAGAACATTTCATGTAGATACTCCAGAGGAAAGGGAAGAATGGACAGAAGCTATCCAGGCTGTAGCAGACAGACTGCAGAGGCAAGAAGAGGAGAGAATGAATTGTAGTCCAACTTCACAAATTGATAATATAGGAGAGGAAGAGATGGATGCCTCTACAACCCATCATAAAAGAAAGACAATGAATGATTTTGACTATTTGAAACTACTAGGTAAAGGCACTTTTGGGAAAGTTATTTTGGTTCGAGAGAAGGCAAGTGGAAAATACTATGCTATGAAGATTCTGAAGAAAGAAGTCATTATTGCAAAGGATGAAGTGGCACACACTCTAACTGAAAGCAGAGTATTAAAGAACACTAGACATCCCTTTTTAACATCCTTGAAATATTCCTTCCAGACAAAAGACCGTTTGTGTTTTGTGATGGAATATGTTAATGGGGGCGAGCTGTTTTTCCATTTGTCGAGAGAGCGGGTGTTCTCTGAGGACCGCACACGTTTCTATGGTGCAGAAATTGTCTCTGCCTTGGACTATCTACATTCCGGAAAGATTGTGTACCGTGATCTCAAGTTGGAGAATCTAATGCTGGACAAAGATGGCCACATAAAAATTACAGATTTTGGACTTTGCAAAGAAGGGATCACAGATGCAGCCACCATGAAGACATTCTGTGGCACTCCAGAATATCTGGCACCAGAGGTGTTAGAAGATAATGACTATGGCCGAGCAGTAGACTGGTGGGGCCTAGGGGTTGTCATGTATGAAATGATGTGTGGGAGGTTACCTTTCTACAACCAGGACCATGAGAAACTTTTTGAATTAATATTAATGGAAGACATTAAATTTCCTCGAACACTCTCTTCAGATGCAAAATCATTGCTTTCAGGGCTCTTGATAAAGGATCCAAATAAACGCCTTGGTGGAGGACCAGATGATGCAAAAGAAATTATGAGACACAGTTTCTTCTCTGGAGTAAACTGGCAAGATGTATATGATAAAAAGCTTGTACCTCCTTTTAAACCTCAAGTAACATCTGAGACAGATACTAGATATTTTGATGAAGAATTTACAGCTCAGACTATTACAATAACACCACCTGAAAAATATGATGAGGATGGTATGGACTGCATGGACAATGAGAGGCGGCCGCATTTCCCTCAATTTTCCTACTCTGCAAGTGGACGAGAATAA | chr1|+|[0]243256174-243256240[0]|[1]243270105-243270257[0]|[1]243270978-243271063[2]|[0]243274543-243274656[2]|[0]243286272-243286397[2]|[0]243293091-243293219[2]|[0]243304713-243304777[1]|[2]243307989-243308177[1]|[2]243316755-243316893[2]|[0]243330540-243330692[2]|[0]243341039-243341173[2]|[0]243344215-243344331[2]|[0]243378721-243378863[1]<==>chr1|-|[2]243505249-243505334[1]|[0]243512324-243512426[0]|[2]243545510-243545597[2]|[1]243552729-243552943[0]|[2]243563720-243563848[0]|[2]243572926-243573048[0]|[2]243613671-243613739[0]|[2]243615096-243615161[0]|[2]243637611-243637742[0]|[2]243645893-243646037[2]|[1]243664772-243664883[1] | MAKSPENSTLEEILGQYQRSLREHASRSIHQLTCALKEGDVTIGEDAPNLSFSTSVGNEDARTAWPELQQSHAVNQLKDLLRQQADKESEVSPSRRRKMSPLRSLEHEETNMPTMHDLVHTINDQSQYIHHLEAEVKFCKEELSGMKNKIQVVVLENEGLQQQLKSQRQEETLREQTLLDASGNMHNSWITTGEDSGVGETSKRPFSHDNADFGKAASAGEQLELEKLKLTYEEKCEIEESQLKFLRNDLAEYQRTCEDLKEQLKHKEFLLAANTCNRVGGLCLKCAQHEAVLSQTHTNVHMQTIERLVKERDDLMSALVSVRSSLADTQQREASAYEQVKQVLQISEEANFEKTKALIQCDQLRKELERQAERLEKELASQQEKRAIEKDMMKKEITKEREYMGSKMLILSQNIAQLEAQVEKVTKEKISAINQLEEIQSQLASREMDVTKVCGEMRYQLNKTNMEKDEAEKEHREFRAKTNRDLEIKDQEIEKLRIELDESKQHLEQEQQKAALAREECLRLTELLGESEHQLHLTRMPVNENRTTKAKHIYNQMSPVDYCYRENISCRYSRGKGRMDRSYPGCSRQTAEARRGENEL*SNFTN**YRRGRDGCLYNPS*KKDNE*F*LFETTR*RHFWESYFGSREGKWKILCYEDSEERSHYCKG*SGTHSN*KQSIKEH*TSLFNILEIFLPDKRPFVFCDGIC*WGRAVFPFVERAGVL*GPHTFLWCRNCLCLGLSTFRKDCVP*SQVGESNAGQRWPHKNYRFWTLQRRDHRCSHHEDILWHSRISGTRGVRR**LWPSSRLVGPRGCHV*NDVWEVTFLQPGP*ETF*ININGRH*ISSNTLFRCKIIAFRALDKGSK*TPWWRTR*CKRNYETQFLLWSKLARCI**KACTSF*TSSNI*DRY*IF**RIYSSDYYNNTT*KI**GWYGLHGQ*EAAAFPSIFLLCKWTRI | SDCCAG8--AKT3 | 1 | LH00995:25:23T55JLT4:1:2388:10069:24387 | NO_LDAS | GT | 1.7968 | chr1:243378863:+ | SDCCAG8^ENSG00000054282.16 | CCCAP|6-705|0^MTES_1575|155-187|0.15^MTES_1575|346-372|0.22^Aegerolysin|458-512|1.9e-05^MTES_1575|481-523|0.00037^Aegerolysin|561-581|1.5 | Pkinase-PARTIAL|~47-77|0.99^PH-PARTIAL|~47-63|9.4e-08^FTA2|101-140|0.00021^Pkinase|108-363|5.2e-81^PK_Tyr_Ser-Thr|109-346|4.8e-40^Kinase-like|110-136|0.19^PH|172-193|1.8^FTA2|211-236|0.0037^Kinase-like|213-343|6.4e-11^Pkinase_C|384-431|1.6e-11 | FRAMESHIFT | AG | 1.8892 | chr1:243664883:- | AKT3^ENSG00000117020.19 | 0 | . | ONLY_REF_SPLICE | ["INTRACHROMOSOMAL[chr1:0.01Mb]","NEIGHBORS_OVERLAP:+:-:[11858]"] | False | chr1:243378863-chr1:243664883 | 1.0 | 0.0 | Read count too low: 1 < 8 | 1 | 1173_RQT | STAR-Fusion | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| fp_audit | 1173_RQT | fusion | AKT3--SDCCAG8 | SDCCAG8--AKT3 | AKT3--SDCCAG8 | FP | FP | Arriba | dev_rna_exp0016 | 1173_RQT | altera_exact | 1173 | clinical | patient | sarcoma | Sarcoma | 84 | unknown | False | 1173_RQT_T1_RNA_SLD_01 | tRNA | altera_inhouse | ssf | 47.20 | 35.00 | 22.07 | AIH_Ext12_RNA | G02 | False | dev_rna_exp0016_lib_s15 | 200.00 | 28.48 | dev_rna_exp0016 | G02 | False | 1173_RQT_T1_RNA_SLD_01_A23T55JLT4_1 | dev_rna_exp0016 | 1,2,3,4,5,6,7,8 | 1.00 | False | nfcore_rnafusion | 1173_RQT_T1_RNA_SLD_01_A23T55JLT4_2 | BND | chr1 | chr1 | SDCCAG8 | AKT3 | 243378863 | 243664883 | chr1:243378863-chr1:243664883 | +,- | STAR-Fusion | 1 | 0 | 1 | 0.0052 | 1 | FAIL | out-of-frame | SDCCAG8--AKT3 | AKT3--SDCCAG8 | ["INTRACHROMOSOMAL[chr1:0.01Mb]","NEIGHBORS_OVERLAP:+:-:[11858]"] | ONLY_REF_SPLICE | NO_LDAS | 1.7968 | False | False | True | GT | AG | 1 | False | Read count too low: 1 < 8 | 0 | ENST00000366541.8 | 1-1616 | ENST00000680056.1 | 47-1314 | 0.0052 | FAIL | atggcgaagtccccggagaactctaccctggaggagattctggggcagtatcaacggagtctccgggaacatgccagcagaagcattcaccaactgacatgtgccctgaaagaaggcgatgtcactattggagaagatgcaccaaatctttcttttagcaccagtgtgggaaatgaggacgccaggacagcctggcccgaattacaacagagccatgctgttaatcagctcaaagatttgttgcgccaacaagcagataaggaaagtgaagtatctccgtcaagaagaagaaaaatgtcccccttgaggtcattagaacatgaggaaaccaatatgcctactatgcacgaccttgttcatactattaatgaccagtctcaatatattcatcatttagaggcagaagttaagttctgcaaggaggaactctctggaatgaaaaataaaatacaagtagttgtgcttgaaaacgaagggctccagcaacagctaaaatctcaaagacaagaggagacactgagggaacaaacacttctggatgcatccggaaacatgcacaattcttggattacaacaggtgaagattctggggtgggcgaaacctccaaaagaccattttcccatgacaatgcagattttggcaaagctgcatctgctggtgagcagctagaactggagaagctaaaacttacttatgaggaaaagtgtgaaattgaggaatcccaattgaagtttttgaggaacgacttagctgaatatcagagaacttgtgaagatcttaaagagcaactaaagcataaagaatttcttctggctgctaatacttgtaaccgtgttggtggtctttgtttgaaatgtgctcagcatgaagctgttctttcccaaacccatactaatgttcatatgcagaccatcgaaagactggttaaagaaagagatgacttgatgtctgcactagtttccgtaaggagcagcttggcagatacgcagcaaagagaagcaagtgcttatgaacaggtgaaacaagttttgcaaatatctgaggaagccaattttgaaaaaaccaaggctttaatccagtgtgaccagttgaggaaggagctggagaggcaggcggagcgacttgaaaaagaacttgcatctcagcaagagaaaagggccattgagaaagacatgatgaaaaaggaaataacgaaagaaagggagtacatgggatcaaagatgttgatcttgtctcagaatattgcccaactggaggcccaggtggaaaaggttacaaaggaaaagatttcagctattaatcaactggaggaaattcaaagccagctggcttctcgggaaatggatgtcacaaaggtgtgtggagaaatgcgctatcagctgaataaaaccaacatggagaaggatgaggcagaaaaggagcacagagagttcagagcaaaaactaacagggatcttgaaattaaagatcaggaaatagagaaattgagaatagaactggatgaaagcaaacaacacttggaacaggagcagcagaaggcagccctggccagagaggagtgcctgagactaacagaactgctgggcgaatctgagcaccaactgcacctcaccagAATGCCAGTTAATGAAAACAGAACGACCAAAGCCAAACACATTTATAATCAGATGTCTCCAGTGGACTACTGTTATAGAGAGAACATTTCATGTAGATACTCCAGAGGAAAGGGAAGAATGGACAGAAGCTATCCAGGCTGTAGCAGACAGACTGCAGAGGCAAGAAGAGGAGAGAATGAATTGTAGTCCAACTTCACAAATTGATAATATAGGAGAGGAAGAGATGGATGCCTCTACAACCCATCATAAAAGAAAGACAATGAATGATTTTGACTATTTGAAACTACTAGGTAAAGGCACTTTTGGGAAAGTTATTTTGGTTCGAGAGAAGGCAAGTGGAAAATACTATGCTATGAAGATTCTGAAGAAAGAAGTCATTATTGCAAAGGATGAAGTGGCACACACTCTAACTGAAAGCAGAGTATTAAAGAACACTAGACATCCCTTTTTAACATCCTTGAAATATTCCTTCCAGACAAAAGACCGTTTGTGTTTTGTGATGGAATATGTTAATGGGGGCGAGCTGTTTTTCCATTTGTCGAGAGAGCGGGTGTTCTCTGAGGACCGCACACGTTTCTATGGTGCAGAAATTGTCTCTGCCTTGGACTATCTACATTCCGGAAAGATTGTGTACCGTGATCTCAAGTTGGAGAATCTAATGCTGGACAAAGATGGCCACATAAAAATTACAGATTTTGGACTTTGCAAAGAAGGGATCACAGATGCAGCCACCATGAAGACATTCTGTGGCACTCCAGAATATCTGGCACCAGAGGTGTTAGAAGATAATGACTATGGCCGAGCAGTAGACTGGTGGGGCCTAGGGGTTGTCATGTATGAAATGATGTGTGGGAGGTTACCTTTCTACAACCAGGACCATGAGAAACTTTTTGAATTAATATTAATGGAAGACATTAAATTTCCTCGAACACTCTCTTCAGATGCAAAATCATTGCTTTCAGGGCTCTTGATAAAGGATCCAAATAAACGCCTTGGTGGAGGACCAGATGATGCAAAAGAAATTATGAGACACAGTTTCTTCTCTGGAGTAAACTGGCAAGATGTATATGATAAAAAGCTTGTACCTCCTTTTAAACCTCAAGTAACATCTGAGACAGATACTAGATATTTTGATGAAGAATTTACAGCTCAGACTATTACAATAACACCACCTGAAAAATATGATGAGGATGGTATGGACTGCATGGACAATGAGAGGCGGCCGCATTTCCCTCAATTTTCCTACTCTGCAAGTGGACGAGAATAA | chr1|+|[0]243256174-243256240[0]|[1]243270105-243270257[0]|[1]243270978-243271063[2]|[0]243274543-243274656[2]|[0]243286272-243286397[2]|[0]243293091-243293219[2]|[0]243304713-243304777[1]|[2]243307989-243308177[1]|[2]243316755-243316893[2]|[0]243330540-243330692[2]|[0]243341039-243341173[2]|[0]243344215-243344331[2]|[0]243378721-243378863[1]<==>chr1|-|[2]243505249-243505334[1]|[0]243512324-243512426[0]|[2]243545510-243545597[2]|[1]243552729-243552943[0]|[2]243563720-243563848[0]|[2]243572926-243573048[0]|[2]243613671-243613739[0]|[2]243615096-243615161[0]|[2]243637611-243637742[0]|[2]243645893-243646037[2]|[1]243664772-243664883[1] | MAKSPENSTLEEILGQYQRSLREHASRSIHQLTCALKEGDVTIGEDAPNLSFSTSVGNEDARTAWPELQQSHAVNQLKDLLRQQADKESEVSPSRRRKMSPLRSLEHEETNMPTMHDLVHTINDQSQYIHHLEAEVKFCKEELSGMKNKIQVVVLENEGLQQQLKSQRQEETLREQTLLDASGNMHNSWITTGEDSGVGETSKRPFSHDNADFGKAASAGEQLELEKLKLTYEEKCEIEESQLKFLRNDLAEYQRTCEDLKEQLKHKEFLLAANTCNRVGGLCLKCAQHEAVLSQTHTNVHMQTIERLVKERDDLMSALVSVRSSLADTQQREASAYEQVKQVLQISEEANFEKTKALIQCDQLRKELERQAERLEKELASQQEKRAIEKDMMKKEITKEREYMGSKMLILSQNIAQLEAQVEKVTKEKISAINQLEEIQSQLASREMDVTKVCGEMRYQLNKTNMEKDEAEKEHREFRAKTNRDLEIKDQEIEKLRIELDESKQHLEQEQQKAALAREECLRLTELLGESEHQLHLTRMPVNENRTTKAKHIYNQMSPVDYCYRENISCRYSRGKGRMDRSYPGCSRQTAEARRGENEL*SNFTN**YRRGRDGCLYNPS*KKDNE*F*LFETTR*RHFWESYFGSREGKWKILCYEDSEERSHYCKG*SGTHSN*KQSIKEH*TSLFNILEIFLPDKRPFVFCDGIC*WGRAVFPFVERAGVL*GPHTFLWCRNCLCLGLSTFRKDCVP*SQVGESNAGQRWPHKNYRFWTLQRRDHRCSHHEDILWHSRISGTRGVRR**LWPSSRLVGPRGCHV*NDVWEVTFLQPGP*ETF*ININGRH*ISSNTLFRCKIIAFRALDKGSK*TPWWRTR*CKRNYETQFLLWSKLARCI**KACTSF*TSSNI*DRY*IF**RIYSSDYYNNTT*KI**GWYGLHGQ*EAAAFPSIFLLCKWTRI | SDCCAG8--AKT3 | 1 | LH00995:25:23T55JLT4:1:2388:10069:24387 | NO_LDAS | GT | 1.7968 | chr1:243378863:+ | SDCCAG8^ENSG00000054282.16 | CCCAP|6-705|0^MTES_1575|155-187|0.15^MTES_1575|346-372|0.22^Aegerolysin|458-512|1.9e-05^MTES_1575|481-523|0.00037^Aegerolysin|561-581|1.5 | Pkinase-PARTIAL|~47-77|0.99^PH-PARTIAL|~47-63|9.4e-08^FTA2|101-140|0.00021^Pkinase|108-363|5.2e-81^PK_Tyr_Ser-Thr|109-346|4.8e-40^Kinase-like|110-136|0.19^PH|172-193|1.8^FTA2|211-236|0.0037^Kinase-like|213-343|6.4e-11^Pkinase_C|384-431|1.6e-11 | FRAMESHIFT | AG | 1.8892 | chr1:243664883:- | AKT3^ENSG00000117020.19 | 0 | . | ONLY_REF_SPLICE | ["INTRACHROMOSOMAL[chr1:0.01Mb]","NEIGHBORS_OVERLAP:+:-:[11858]"] | False | chr1:243378863-chr1:243664883 | 1.0 | 0.0 | Read count too low: 1 < 8 | 1 | 1173_RQT | STAR-Fusion | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| fp_audit | 1173_SK8 | fusion | CRTC3--NTRK3 | CRTC3--NTRK3 | CRTC3--NTRK3 | FP | FP | Arriba; STAR-Fusion | dev_rna_exp0016 | 1173_SK8 | altera_exact | 1173 | clinical | patient | lung | Lung | 62 | unknown | False | 1173_SK8_T1_RNA_SLD_01 | tRNA | altera_inhouse | ssf | 36.30 | 38.00 | 49.8 | AIH_Ext13_RNA | H01 | False | dev_rna_exp0016_lib_s24 | 200.00 | 78.96 | dev_rna_exp0016 | H03 | False | 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 | dev_rna_exp0016 | 1,2,3,4,5,6,7,8 | 1.00 | False | nfcore_rnafusion | 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 | BND | chr15 | chr15 | CRTC3 | NTRK3 | 90540137 | 88184299 | chr15:90540137-chr15:88184299 | +,- | STAR-Fusion | 1 | 0 | 27 | 0.0915 | 27 | PASS | out-of-frame | CRTC3--NTRK3 | CRTC3--NTRK3 | ["INTRACHROMOSOMAL[chr15:2.27Mb]"] | ONLY_REF_SPLICE | YES_LDAS | 1.8295 | False | False | False | GT | AG | 27 | False | 1 | ENST00000268184.11 | 1-231 | ENST00000626019.2 | 249-2595 | 0.0915 | PASS | atggccgcctcgccgggctcgggcagcgccaacccgcggaagttcagtgagaagatcgcgctgcacacgcagagacaggccgaggagacgcgggccttcgagcagctcatgaccgacctcaccctgtcgcgggttcaatttcagaagcttcagcaactgcgccttacacagtaccatggaggatccttaccaaatgtgagccagctgcggagcagtgcgtcagagtttcagACACATAGAGAACTGGCGCAGTCTTCACACGCTCAACGCCGTGGACATGGAGCTCTACACCGGACTTCAAAAGCTGACCATCAAGAACTCAGGACTTCGGAGCATTCAGCCCAGAGCCTTTGCCAAGAACCCCCATTTGCGTTATATAAACCTGTCAAGTAACCGGCTCACCACACTCTCGTGGCAGCTCTTCCAGACGCTGAGTCTTCGGGAATTGCAGTTGGAGCAGAACTTTTTCAACTGCAGCTGTGACATCCGCTGGATGCAGCTCTGGCAGGAGCAGGGGGAGGCCAAGCTCAACAGCCAGAACCTCTACTGCATCAACGCTGATGGCTCCCAGCTTCCTCTCTTCCGCATGAACATCAGTCAGTGTGACCTTCCTGAGATCAGCGTGAGCCACGTCAACCTGACCGTACGAGAGGGTGACAACGCTGTTATCACTTGCAATGGCTCTGGATCACCCCTTCCTGATGTGGACTGGATAGTCACTGGGCTGCAGTCCATCAACACTCACCAGACCAATCTGAACTGGACCAATGTTCATGCCATCAACTTGACGCTGGTGAATGTGACGAGTGAGGACAATGGCTTCACCCTGACGTGCATTGCAGAGAACGTGGTGGGCATGAGCAATGCCAGTGTTGCCCTCACTGTCTACTATCCCCCACGTGTGGTGAGCCTGGAGGAGCCTGAGCTGCGCCTGGAGCACTGCATCGAGTTTGTGGTGCGTGGCAACCCCCCACCAACGCTGCACTGGCTGCACAATGGGCAGCCTCTGCGGGAGTCCAAGATCATCCATGTGGAATACTACCAAGAGGGAGAGATTTCCGAGGGCTGCCTGCTCTTCAACAAGCCCACCCACTACAACAATGGCAACTATACCCTCATTGCCAAAAACCCACTGGGCACAGCCAACCAGACCATCAATGGCCACTTCCTCAAGGAGCCCTTTCCAGAGAGCACGGATAACTTTATCTTGTTTGACGAAGTGAGTCCCACACCTCCTATCACTGTGACCCACAAACCAGAAGAAGACACTTTTGGGGTATCCATAGCAGTTGGACTTGCTGCTTTTGCCTGTGTCCTGTTGGTGGTTCTCTTCGTCATGATCAACAAATATGGTCGACGGTCCAAATTTGGAATGAAGGGTCCCGTGGCTGTCATCAGTGGTGAGGAGGACTCAGCCAGCCCACTGCACCACATCAACCACGGCATCACCACGCCCTCGTCACTGGATGCCGGGCCCGACACTGTGGTCATTGGCATGACTCGCATCCCTGTCATTGAGAACCCCCAGTACTTCCGTCAGGGACACAACTGCCACAAGCCGGACACGTATGTGCAGCACATTAAGAGGAGAGACATCGTGCTGAAGCGAGAACTGGGTGAGGGAGCCTTTGGAAAGGTCTTCCTGGCCGAGTGCTACAACCTCAGCCCGACCAAGGACAAGATGCTTGTGGCTGTGAAGGCCCTGAAGGATCCCACCCTGGCTGCCCGGAAGGATTTCCAGAGGGAGGCCGAGCTGCTCACCAACCTGCAGCATGAGCACATTGTCAAGTTCTATGGAGTGTGCGGCGATGGGGACCCCCTCATCATGGTCTTTGAATACATGAAGCATGGAGACCTGAATAAGTTCCTCAGGGCCCATGGGCCAGATGCAATGATCCTTGTGGATGGACAGCCACGCCAGGCCAAGGGTGAGCTGGGGCTCTCCCAAATGCTCCACATTGCCAGTCAGATCGCCTCGGGTATGGTGTACCTGGCCTCCCAGCACTTTGTGCACCGAGACCTGGCCACCAGGAACTGCCTGGTTGGAGCGAATCTGCTAGTGAAGATTGGGGACTTCGGCATGTCCAGAGATGTCTACAGCACGGATTATTACAGGGAAGGGCCATGCCAGAAGGGCCCGTTCAGTGTGGTGTGGCAGCGGCAGAGGCTAGCAGCAACGGCAGCTTCCACACTCTTTAATCCATCTGGAAATGATTTTTGTATATGGTGTGAGGTGGGAGGACACACCATGCTCCCCATTCGCTGGATGCCTCCTGAAAGCATCATGTACCGGAAGTTCACTACAGAGAGTGATGTATGGAGCTTCGGGGTGATCCTCTGGGAGATCTTCACCTATGGAAAGCAGCCATGGTTCCAACTCTCAAACACGGAGGTCATTGAGTGCATTACCCAAGGTCGTGTTTTGGAGCGGCCCCGAGTCTGCCCCAAAGAGGTGTACGATGTCATGCTGGGGTGCTGGCAGAGGGAACCACAGCAGCGGTTGAACATCAAGGAGATCTACAAAATCCTCCATGCTTTGGGGAAGGCCACCCCAATCTACCTGGACATTCTTGGCTAG | chr15|+|[0]90530072-90530203[2]|[0]90540039-90540137[2]<==>chr15|-|[2]87876935-87877120[0]|[2]87880270-87880428[0]|[2]87885694-87885735[0]|[2]87908489-87908563[0]|[2]87929191-87929434[2]|[1]87933012-87933184[0]|[2]87940623-87940753[1]|[0]88032857-88033045[1]|[0]88126271-88126373[0]|[2]88127162-88127226[1]|[0]88128711-88128734[1]|[0]88135101-88135397[1]|[0]88135899-88136040[0]|[2]88136467-88136609[1]|[0]88137404-88137561[2]|[1]88147335-88147403[2]|[1]88183418-88183489[2]|[1]88184225-88184299[2] | MAASPGSGSANPRKFSEKIALHTQRQAEETRAFEQLMTDLTLSRVQFQKLQQLRLTQYHGGSLPNVSQLRSSASEFQTHRELAQSSHAQRRGHGALHRTSKADHQELRTSEHSAQSLCQEPPFALYKPVK*PAHHTLVAALPDAESSGIAVGAELFQLQL*HPLDAALAGAGGGQAQQPEPLLHQR*WLPASSLPHEHQSV*PS*DQREPRQPDRTRG*QRCYHLQWLWITPS*CGLDSHWAAVHQHSPDQSELDQCSCHQLDAGECDE*GQWLHPDVHCRERGGHEQCQCCPHCLLSPTCGEPGGA*AAPGALHRVCGAWQPPTNAALAAQWAASAGVQDHPCGILPRGRDFRGLPALQQAHPLQQWQLYPHCQKPTGHSQPDHQWPLPQGALSREHG*LYLV*RSESHTSYHCDPQTRRRHFWGIHSSWTCCFCLCPVGGSLRHDQQIWSTVQIWNEGSRGCHQW*GGLSQPTAPHQPRHHHALVTGCRARHCGHWHDSHPCH*EPPVLPSGTQLPQAGHVCAAH*EERHRAEARTG*GSLWKGLPGRVLQPQPDQGQDACGCEGPEGSHPGCPEGFPEGGRAAHQPAA*AHCQVLWSVRRWGPPHHGL*IHEAWRPE*VPQGPWARCNDPCGWTATPGQG*AGALPNAPHCQSDRLGYGVPGLPALCAPRPGHQELPGWSESASEDWGLRHVQRCLQHGLLQGRAMPEGPVQCGVAAAEASSNGSFHTL*SIWK*FLYMV*GGRTHHAPHSLDAS*KHHVPEVHYRE*CMELRGDPLGDLHLWKAAMVPTLKHGGH*VHYPRSCFGAAPSLPQRGVRCHAGVLAEGTTAAVEHQGDLQNPPCFGEGHPNLPGHSWL | CRTC3--NTRK3 | 27 | LH00995:25:23T55JLT4:1:1143:17496:25283,LH00995:25:23T55JLT4:1:1407:2610:27077,LH00995:25:23T55JLT4:1:2406:1316:25592,LH00995:25:23T55JLT4:1:2487:10198:10767,LH00995:25:23T55JLT4:2:1135:9454:18922,LH00995:25:23T55JLT4:2:1446:14607:8090,LH00995:25:23T55JLT4:2:2117:42372:26811,LH00995:25:23T55JLT4:2:2178:29525:10192,LH00995:25:23T55JLT4:2:2259:21670:22789,LH00995:25:23T55JLT4:2:2403:13564:18669,LH00995:25:23T55JLT4:3:2167:46328:20603,LH00995:25:23T55JLT4:3:2216:1356:15012,LH00995:25:23T55JLT4:3:2302:49273:25507,LH00995:25:23T55JLT4:3:2366:26273:26110,LH00995:25:23T55JLT4:3:2376:15522:7824,LH00995:25:23T55JLT4:3:2395:10562:16442,LH00995:25:23T55JLT4:4:1212:31200:10795,LH00995:25:23T55JLT4:4:1215:25537:18782,LH00995:25:23T55JLT4:4:1428:27252:9814,LH00995:25:23T55JLT4:5:2237:13580:8132,LH00995:25:23T55JLT4:5:2409:32616:5568,LH00995:25:23T55JLT4:6:1451:5814:4461,LH00995:25:23T55JLT4:8:1330:12148:2233,LH00995:25:23T55JLT4:8:1460:41620:25732,LH00995:25:23T55JLT4:8:2229:43537:4923,LH00995:25:23T55JLT4:8:2275:18693:20435,LH00995:25:23T55JLT4:8:2487:7618:9127 | YES_LDAS | GT | 1.9656 | chr15:90540137:+ | CRTC3^ENSG00000140577.16 | TORC_N|11-64|1.2e-21^TORC_M|51-70|0.19^TORC_M-PARTIAL|159-231~|1.3e-66 | I-set-PARTIAL|~249-301|2.8e-13^ig-PARTIAL|~249-298|2.4e-18^Ig_3-PARTIAL|~249-288|1.4e-12^Ig_2-PARTIAL|~249-301|3.5e-10^C2-set_2-PARTIAL|~249-287|1.4e-06^LRR_1|315-322|9.6^C2-set_2|319-345|6e-05^I-set|323-391|4.3e-10^Ig_3|325-382|1.1e-07^ig|326-386|0.0041^Ig_2|327-383|1.9e-05^TrkA_TMD|431-451|7.2e-05^PK_Tyr_Ser-Thr|539-719|1.6e-56^Pkinase|540-708|2.1e-32^Ig_3|737-765|1.9^I-set|744-764|5.7^PK_Tyr_Ser-Thr|753-848|4.5e-37^Pkinase|760-846|6.2e-14 | FRAMESHIFT | AG | 1.8295 | chr15:88184299:- | NTRK3^ENSG00000140538.16 | 0 | . | ONLY_REF_SPLICE | ["INTRACHROMOSOMAL[chr15:2.27Mb]"] | False | chr15:90540137-chr15:88184299 | 27.0 | 0.0 | 27 | 1173_SK8 | STAR-Fusion | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| fp_audit | 1173_SK8 | fusion | CRTC3--NTRK3 | CRTC3--NTRK3 | CRTC3--NTRK3 | FP | FP | Arriba; STAR-Fusion | dev_rna_exp0016 | 1173_SK8 | altera_exact | 1173 | clinical | patient | lung | Lung | 62 | unknown | False | 1173_SK8_T1_RNA_SLD_01 | tRNA | altera_inhouse | ssf | 36.30 | 38.00 | 49.8 | AIH_Ext13_RNA | H01 | False | dev_rna_exp0016_lib_s24 | 200.00 | 78.96 | dev_rna_exp0016 | H03 | False | 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 | dev_rna_exp0016 | 1,2,3,4,5,6,7,8 | 1.00 | False | nfcore_rnafusion | 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_2 | BND | chr15 | chr15 | CRTC3 | NTRK3 | 90540137 | 88184299 | chr15:90540137-chr15:88184299 | +,- | STAR-Fusion | 1 | 0 | 11 | 0.0539 | 11 | PASS | out-of-frame | CRTC3--NTRK3 | CRTC3--NTRK3 | ["INTRACHROMOSOMAL[chr15:2.27Mb]"] | ONLY_REF_SPLICE | YES_LDAS | 1.8295 | False | False | False | GT | AG | 11 | False | 1 | ENST00000268184.11 | 1-231 | ENST00000626019.2 | 249-2595 | 0.0539 | PASS | atggccgcctcgccgggctcgggcagcgccaacccgcggaagttcagtgagaagatcgcgctgcacacgcagagacaggccgaggagacgcgggccttcgagcagctcatgaccgacctcaccctgtcgcgggttcaatttcagaagcttcagcaactgcgccttacacagtaccatggaggatccttaccaaatgtgagccagctgcggagcagtgcgtcagagtttcagACACATAGAGAACTGGCGCAGTCTTCACACGCTCAACGCCGTGGACATGGAGCTCTACACCGGACTTCAAAAGCTGACCATCAAGAACTCAGGACTTCGGAGCATTCAGCCCAGAGCCTTTGCCAAGAACCCCCATTTGCGTTATATAAACCTGTCAAGTAACCGGCTCACCACACTCTCGTGGCAGCTCTTCCAGACGCTGAGTCTTCGGGAATTGCAGTTGGAGCAGAACTTTTTCAACTGCAGCTGTGACATCCGCTGGATGCAGCTCTGGCAGGAGCAGGGGGAGGCCAAGCTCAACAGCCAGAACCTCTACTGCATCAACGCTGATGGCTCCCAGCTTCCTCTCTTCCGCATGAACATCAGTCAGTGTGACCTTCCTGAGATCAGCGTGAGCCACGTCAACCTGACCGTACGAGAGGGTGACAACGCTGTTATCACTTGCAATGGCTCTGGATCACCCCTTCCTGATGTGGACTGGATAGTCACTGGGCTGCAGTCCATCAACACTCACCAGACCAATCTGAACTGGACCAATGTTCATGCCATCAACTTGACGCTGGTGAATGTGACGAGTGAGGACAATGGCTTCACCCTGACGTGCATTGCAGAGAACGTGGTGGGCATGAGCAATGCCAGTGTTGCCCTCACTGTCTACTATCCCCCACGTGTGGTGAGCCTGGAGGAGCCTGAGCTGCGCCTGGAGCACTGCATCGAGTTTGTGGTGCGTGGCAACCCCCCACCAACGCTGCACTGGCTGCACAATGGGCAGCCTCTGCGGGAGTCCAAGATCATCCATGTGGAATACTACCAAGAGGGAGAGATTTCCGAGGGCTGCCTGCTCTTCAACAAGCCCACCCACTACAACAATGGCAACTATACCCTCATTGCCAAAAACCCACTGGGCACAGCCAACCAGACCATCAATGGCCACTTCCTCAAGGAGCCCTTTCCAGAGAGCACGGATAACTTTATCTTGTTTGACGAAGTGAGTCCCACACCTCCTATCACTGTGACCCACAAACCAGAAGAAGACACTTTTGGGGTATCCATAGCAGTTGGACTTGCTGCTTTTGCCTGTGTCCTGTTGGTGGTTCTCTTCGTCATGATCAACAAATATGGTCGACGGTCCAAATTTGGAATGAAGGGTCCCGTGGCTGTCATCAGTGGTGAGGAGGACTCAGCCAGCCCACTGCACCACATCAACCACGGCATCACCACGCCCTCGTCACTGGATGCCGGGCCCGACACTGTGGTCATTGGCATGACTCGCATCCCTGTCATTGAGAACCCCCAGTACTTCCGTCAGGGACACAACTGCCACAAGCCGGACACGTATGTGCAGCACATTAAGAGGAGAGACATCGTGCTGAAGCGAGAACTGGGTGAGGGAGCCTTTGGAAAGGTCTTCCTGGCCGAGTGCTACAACCTCAGCCCGACCAAGGACAAGATGCTTGTGGCTGTGAAGGCCCTGAAGGATCCCACCCTGGCTGCCCGGAAGGATTTCCAGAGGGAGGCCGAGCTGCTCACCAACCTGCAGCATGAGCACATTGTCAAGTTCTATGGAGTGTGCGGCGATGGGGACCCCCTCATCATGGTCTTTGAATACATGAAGCATGGAGACCTGAATAAGTTCCTCAGGGCCCATGGGCCAGATGCAATGATCCTTGTGGATGGACAGCCACGCCAGGCCAAGGGTGAGCTGGGGCTCTCCCAAATGCTCCACATTGCCAGTCAGATCGCCTCGGGTATGGTGTACCTGGCCTCCCAGCACTTTGTGCACCGAGACCTGGCCACCAGGAACTGCCTGGTTGGAGCGAATCTGCTAGTGAAGATTGGGGACTTCGGCATGTCCAGAGATGTCTACAGCACGGATTATTACAGGGAAGGGCCATGCCAGAAGGGCCCGTTCAGTGTGGTGTGGCAGCGGCAGAGGCTAGCAGCAACGGCAGCTTCCACACTCTTTAATCCATCTGGAAATGATTTTTGTATATGGTGTGAGGTGGGAGGACACACCATGCTCCCCATTCGCTGGATGCCTCCTGAAAGCATCATGTACCGGAAGTTCACTACAGAGAGTGATGTATGGAGCTTCGGGGTGATCCTCTGGGAGATCTTCACCTATGGAAAGCAGCCATGGTTCCAACTCTCAAACACGGAGGTCATTGAGTGCATTACCCAAGGTCGTGTTTTGGAGCGGCCCCGAGTCTGCCCCAAAGAGGTGTACGATGTCATGCTGGGGTGCTGGCAGAGGGAACCACAGCAGCGGTTGAACATCAAGGAGATCTACAAAATCCTCCATGCTTTGGGGAAGGCCACCCCAATCTACCTGGACATTCTTGGCTAG | chr15|+|[0]90530072-90530203[2]|[0]90540039-90540137[2]<==>chr15|-|[2]87876935-87877120[0]|[2]87880270-87880428[0]|[2]87885694-87885735[0]|[2]87908489-87908563[0]|[2]87929191-87929434[2]|[1]87933012-87933184[0]|[2]87940623-87940753[1]|[0]88032857-88033045[1]|[0]88126271-88126373[0]|[2]88127162-88127226[1]|[0]88128711-88128734[1]|[0]88135101-88135397[1]|[0]88135899-88136040[0]|[2]88136467-88136609[1]|[0]88137404-88137561[2]|[1]88147335-88147403[2]|[1]88183418-88183489[2]|[1]88184225-88184299[2] | MAASPGSGSANPRKFSEKIALHTQRQAEETRAFEQLMTDLTLSRVQFQKLQQLRLTQYHGGSLPNVSQLRSSASEFQTHRELAQSSHAQRRGHGALHRTSKADHQELRTSEHSAQSLCQEPPFALYKPVK*PAHHTLVAALPDAESSGIAVGAELFQLQL*HPLDAALAGAGGGQAQQPEPLLHQR*WLPASSLPHEHQSV*PS*DQREPRQPDRTRG*QRCYHLQWLWITPS*CGLDSHWAAVHQHSPDQSELDQCSCHQLDAGECDE*GQWLHPDVHCRERGGHEQCQCCPHCLLSPTCGEPGGA*AAPGALHRVCGAWQPPTNAALAAQWAASAGVQDHPCGILPRGRDFRGLPALQQAHPLQQWQLYPHCQKPTGHSQPDHQWPLPQGALSREHG*LYLV*RSESHTSYHCDPQTRRRHFWGIHSSWTCCFCLCPVGGSLRHDQQIWSTVQIWNEGSRGCHQW*GGLSQPTAPHQPRHHHALVTGCRARHCGHWHDSHPCH*EPPVLPSGTQLPQAGHVCAAH*EERHRAEARTG*GSLWKGLPGRVLQPQPDQGQDACGCEGPEGSHPGCPEGFPEGGRAAHQPAA*AHCQVLWSVRRWGPPHHGL*IHEAWRPE*VPQGPWARCNDPCGWTATPGQG*AGALPNAPHCQSDRLGYGVPGLPALCAPRPGHQELPGWSESASEDWGLRHVQRCLQHGLLQGRAMPEGPVQCGVAAAEASSNGSFHTL*SIWK*FLYMV*GGRTHHAPHSLDAS*KHHVPEVHYRE*CMELRGDPLGDLHLWKAAMVPTLKHGGH*VHYPRSCFGAAPSLPQRGVRCHAGVLAEGTTAAVEHQGDLQNPPCFGEGHPNLPGHSWL | CRTC3--NTRK3 | 11 | LH00995:25:23T55JLT4:1:2209:51417:14620,LH00995:25:23T55JLT4:1:2257:42202:23350,LH00995:25:23T55JLT4:2:1106:2230:3522,LH00995:25:23T55JLT4:2:2267:45188:3494,LH00995:25:23T55JLT4:2:2372:47388:2261,LH00995:25:23T55JLT4:4:2119:50527:15180,LH00995:25:23T55JLT4:5:1197:9163:4881,LH00995:25:23T55JLT4:5:2333:1817:8413,LH00995:25:23T55JLT4:6:2408:12180:5988,LH00995:25:23T55JLT4:7:1453:21257:15601,LH00995:25:23T55JLT4:7:2271:46094:28520 | YES_LDAS | GT | 1.9656 | chr15:90540137:+ | CRTC3^ENSG00000140577.16 | TORC_N|11-64|1.2e-21^TORC_M|51-70|0.19^TORC_M-PARTIAL|159-231~|1.3e-66 | I-set-PARTIAL|~249-301|2.8e-13^ig-PARTIAL|~249-298|2.4e-18^Ig_3-PARTIAL|~249-288|1.4e-12^Ig_2-PARTIAL|~249-301|3.5e-10^C2-set_2-PARTIAL|~249-287|1.4e-06^LRR_1|315-322|9.6^C2-set_2|319-345|6e-05^I-set|323-391|4.3e-10^Ig_3|325-382|1.1e-07^ig|326-386|0.0041^Ig_2|327-383|1.9e-05^TrkA_TMD|431-451|7.2e-05^PK_Tyr_Ser-Thr|539-719|1.6e-56^Pkinase|540-708|2.1e-32^Ig_3|737-765|1.9^I-set|744-764|5.7^PK_Tyr_Ser-Thr|753-848|4.5e-37^Pkinase|760-846|6.2e-14 | FRAMESHIFT | AG | 1.8295 | chr15:88184299:- | NTRK3^ENSG00000140538.16 | 0 | . | ONLY_REF_SPLICE | ["INTRACHROMOSOMAL[chr15:2.27Mb]"] | False | chr15:90540137-chr15:88184299 | 11.0 | 0.0 | 11 | 1173_SK8 | STAR-Fusion | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| fp_audit | 1173_SK8 | fusion | CRTC3--NTRK3 | CRTC3--NTRK3 | CRTC3--NTRK3 | FP | FP | Arriba; STAR-Fusion | dev_rna_exp0016 | 1173_SK8 | altera_exact | 1173 | clinical | patient | lung | Lung | 62 | unknown | False | 1173_SK8_T1_RNA_SLD_01 | tRNA | altera_inhouse | ssf | 36.30 | 38.00 | 49.8 | AIH_Ext13_RNA | H01 | False | dev_rna_exp0016_lib_s24 | 200.00 | 78.96 | dev_rna_exp0016 | H03 | False | 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 | dev_rna_exp0016 | 1,2,3,4,5,6,7,8 | 1.00 | False | nfcore_rnafusion | 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_2 | BND | chr15 | chr15 | CRTC3 | NTRK3 | 90540137 | 88184299 | chr15:90540137-chr15:88184299 | +,- | STAR-Fusion | 1 | 0 | 11 | 0.0539 | 11 | PASS | out-of-frame | CRTC3--NTRK3 | CRTC3--NTRK3 | ["INTRACHROMOSOMAL[chr15:2.27Mb]"] | ONLY_REF_SPLICE | YES_LDAS | 1.8295 | False | False | False | GT | AG | 11 | False | 1 | ENST00000268184.11 | 1-231 | ENST00000626019.2 | 249-2595 | 0.0539 | PASS | atggccgcctcgccgggctcgggcagcgccaacccgcggaagttcagtgagaagatcgcgctgcacacgcagagacaggccgaggagacgcgggccttcgagcagctcatgaccgacctcaccctgtcgcgggttcaatttcagaagcttcagcaactgcgccttacacagtaccatggaggatccttaccaaatgtgagccagctgcggagcagtgcgtcagagtttcagACACATAGAGAACTGGCGCAGTCTTCACACGCTCAACGCCGTGGACATGGAGCTCTACACCGGACTTCAAAAGCTGACCATCAAGAACTCAGGACTTCGGAGCATTCAGCCCAGAGCCTTTGCCAAGAACCCCCATTTGCGTTATATAAACCTGTCAAGTAACCGGCTCACCACACTCTCGTGGCAGCTCTTCCAGACGCTGAGTCTTCGGGAATTGCAGTTGGAGCAGAACTTTTTCAACTGCAGCTGTGACATCCGCTGGATGCAGCTCTGGCAGGAGCAGGGGGAGGCCAAGCTCAACAGCCAGAACCTCTACTGCATCAACGCTGATGGCTCCCAGCTTCCTCTCTTCCGCATGAACATCAGTCAGTGTGACCTTCCTGAGATCAGCGTGAGCCACGTCAACCTGACCGTACGAGAGGGTGACAACGCTGTTATCACTTGCAATGGCTCTGGATCACCCCTTCCTGATGTGGACTGGATAGTCACTGGGCTGCAGTCCATCAACACTCACCAGACCAATCTGAACTGGACCAATGTTCATGCCATCAACTTGACGCTGGTGAATGTGACGAGTGAGGACAATGGCTTCACCCTGACGTGCATTGCAGAGAACGTGGTGGGCATGAGCAATGCCAGTGTTGCCCTCACTGTCTACTATCCCCCACGTGTGGTGAGCCTGGAGGAGCCTGAGCTGCGCCTGGAGCACTGCATCGAGTTTGTGGTGCGTGGCAACCCCCCACCAACGCTGCACTGGCTGCACAATGGGCAGCCTCTGCGGGAGTCCAAGATCATCCATGTGGAATACTACCAAGAGGGAGAGATTTCCGAGGGCTGCCTGCTCTTCAACAAGCCCACCCACTACAACAATGGCAACTATACCCTCATTGCCAAAAACCCACTGGGCACAGCCAACCAGACCATCAATGGCCACTTCCTCAAGGAGCCCTTTCCAGAGAGCACGGATAACTTTATCTTGTTTGACGAAGTGAGTCCCACACCTCCTATCACTGTGACCCACAAACCAGAAGAAGACACTTTTGGGGTATCCATAGCAGTTGGACTTGCTGCTTTTGCCTGTGTCCTGTTGGTGGTTCTCTTCGTCATGATCAACAAATATGGTCGACGGTCCAAATTTGGAATGAAGGGTCCCGTGGCTGTCATCAGTGGTGAGGAGGACTCAGCCAGCCCACTGCACCACATCAACCACGGCATCACCACGCCCTCGTCACTGGATGCCGGGCCCGACACTGTGGTCATTGGCATGACTCGCATCCCTGTCATTGAGAACCCCCAGTACTTCCGTCAGGGACACAACTGCCACAAGCCGGACACGTATGTGCAGCACATTAAGAGGAGAGACATCGTGCTGAAGCGAGAACTGGGTGAGGGAGCCTTTGGAAAGGTCTTCCTGGCCGAGTGCTACAACCTCAGCCCGACCAAGGACAAGATGCTTGTGGCTGTGAAGGCCCTGAAGGATCCCACCCTGGCTGCCCGGAAGGATTTCCAGAGGGAGGCCGAGCTGCTCACCAACCTGCAGCATGAGCACATTGTCAAGTTCTATGGAGTGTGCGGCGATGGGGACCCCCTCATCATGGTCTTTGAATACATGAAGCATGGAGACCTGAATAAGTTCCTCAGGGCCCATGGGCCAGATGCAATGATCCTTGTGGATGGACAGCCACGCCAGGCCAAGGGTGAGCTGGGGCTCTCCCAAATGCTCCACATTGCCAGTCAGATCGCCTCGGGTATGGTGTACCTGGCCTCCCAGCACTTTGTGCACCGAGACCTGGCCACCAGGAACTGCCTGGTTGGAGCGAATCTGCTAGTGAAGATTGGGGACTTCGGCATGTCCAGAGATGTCTACAGCACGGATTATTACAGGGAAGGGCCATGCCAGAAGGGCCCGTTCAGTGTGGTGTGGCAGCGGCAGAGGCTAGCAGCAACGGCAGCTTCCACACTCTTTAATCCATCTGGAAATGATTTTTGTATATGGTGTGAGGTGGGAGGACACACCATGCTCCCCATTCGCTGGATGCCTCCTGAAAGCATCATGTACCGGAAGTTCACTACAGAGAGTGATGTATGGAGCTTCGGGGTGATCCTCTGGGAGATCTTCACCTATGGAAAGCAGCCATGGTTCCAACTCTCAAACACGGAGGTCATTGAGTGCATTACCCAAGGTCGTGTTTTGGAGCGGCCCCGAGTCTGCCCCAAAGAGGTGTACGATGTCATGCTGGGGTGCTGGCAGAGGGAACCACAGCAGCGGTTGAACATCAAGGAGATCTACAAAATCCTCCATGCTTTGGGGAAGGCCACCCCAATCTACCTGGACATTCTTGGCTAG | chr15|+|[0]90530072-90530203[2]|[0]90540039-90540137[2]<==>chr15|-|[2]87876935-87877120[0]|[2]87880270-87880428[0]|[2]87885694-87885735[0]|[2]87908489-87908563[0]|[2]87929191-87929434[2]|[1]87933012-87933184[0]|[2]87940623-87940753[1]|[0]88032857-88033045[1]|[0]88126271-88126373[0]|[2]88127162-88127226[1]|[0]88128711-88128734[1]|[0]88135101-88135397[1]|[0]88135899-88136040[0]|[2]88136467-88136609[1]|[0]88137404-88137561[2]|[1]88147335-88147403[2]|[1]88183418-88183489[2]|[1]88184225-88184299[2] | MAASPGSGSANPRKFSEKIALHTQRQAEETRAFEQLMTDLTLSRVQFQKLQQLRLTQYHGGSLPNVSQLRSSASEFQTHRELAQSSHAQRRGHGALHRTSKADHQELRTSEHSAQSLCQEPPFALYKPVK*PAHHTLVAALPDAESSGIAVGAELFQLQL*HPLDAALAGAGGGQAQQPEPLLHQR*WLPASSLPHEHQSV*PS*DQREPRQPDRTRG*QRCYHLQWLWITPS*CGLDSHWAAVHQHSPDQSELDQCSCHQLDAGECDE*GQWLHPDVHCRERGGHEQCQCCPHCLLSPTCGEPGGA*AAPGALHRVCGAWQPPTNAALAAQWAASAGVQDHPCGILPRGRDFRGLPALQQAHPLQQWQLYPHCQKPTGHSQPDHQWPLPQGALSREHG*LYLV*RSESHTSYHCDPQTRRRHFWGIHSSWTCCFCLCPVGGSLRHDQQIWSTVQIWNEGSRGCHQW*GGLSQPTAPHQPRHHHALVTGCRARHCGHWHDSHPCH*EPPVLPSGTQLPQAGHVCAAH*EERHRAEARTG*GSLWKGLPGRVLQPQPDQGQDACGCEGPEGSHPGCPEGFPEGGRAAHQPAA*AHCQVLWSVRRWGPPHHGL*IHEAWRPE*VPQGPWARCNDPCGWTATPGQG*AGALPNAPHCQSDRLGYGVPGLPALCAPRPGHQELPGWSESASEDWGLRHVQRCLQHGLLQGRAMPEGPVQCGVAAAEASSNGSFHTL*SIWK*FLYMV*GGRTHHAPHSLDAS*KHHVPEVHYRE*CMELRGDPLGDLHLWKAAMVPTLKHGGH*VHYPRSCFGAAPSLPQRGVRCHAGVLAEGTTAAVEHQGDLQNPPCFGEGHPNLPGHSWL | CRTC3--NTRK3 | 11 | LH00995:25:23T55JLT4:1:2209:51417:14620,LH00995:25:23T55JLT4:1:2257:42202:23350,LH00995:25:23T55JLT4:2:1106:2230:3522,LH00995:25:23T55JLT4:2:2267:45188:3494,LH00995:25:23T55JLT4:2:2372:47388:2261,LH00995:25:23T55JLT4:4:2119:50527:15180,LH00995:25:23T55JLT4:5:1197:9163:4881,LH00995:25:23T55JLT4:5:2333:1817:8413,LH00995:25:23T55JLT4:6:2408:12180:5988,LH00995:25:23T55JLT4:7:1453:21257:15601,LH00995:25:23T55JLT4:7:2271:46094:28520 | YES_LDAS | GT | 1.9656 | chr15:90540137:+ | CRTC3^ENSG00000140577.16 | TORC_N|11-64|1.2e-21^TORC_M|51-70|0.19^TORC_M-PARTIAL|159-231~|1.3e-66 | I-set-PARTIAL|~249-301|2.8e-13^ig-PARTIAL|~249-298|2.4e-18^Ig_3-PARTIAL|~249-288|1.4e-12^Ig_2-PARTIAL|~249-301|3.5e-10^C2-set_2-PARTIAL|~249-287|1.4e-06^LRR_1|315-322|9.6^C2-set_2|319-345|6e-05^I-set|323-391|4.3e-10^Ig_3|325-382|1.1e-07^ig|326-386|0.0041^Ig_2|327-383|1.9e-05^TrkA_TMD|431-451|7.2e-05^PK_Tyr_Ser-Thr|539-719|1.6e-56^Pkinase|540-708|2.1e-32^Ig_3|737-765|1.9^I-set|744-764|5.7^PK_Tyr_Ser-Thr|753-848|4.5e-37^Pkinase|760-846|6.2e-14 | FRAMESHIFT | AG | 1.8295 | chr15:88184299:- | NTRK3^ENSG00000140538.16 | 0 | . | ONLY_REF_SPLICE | ["INTRACHROMOSOMAL[chr15:2.27Mb]"] | False | chr15:90540137-chr15:88184299 | 11.0 | 0.0 | 11 | 1173_SK8 | STAR-Fusion | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| fp_audit | 1173_SK8 | fusion | CRTC3--NTRK3 | CRTC3--NTRK3 | CRTC3--NTRK3 | FP | FP | Arriba; STAR-Fusion | dev_rna_exp0016 | 1173_SK8 | altera_exact | 1173 | clinical | patient | lung | Lung | 62 | unknown | False | 1173_SK8_T1_RNA_SLD_01 | tRNA | altera_inhouse | ssf | 36.30 | 38.00 | 49.8 | AIH_Ext13_RNA | H01 | False | dev_rna_exp0016_lib_s24 | 200.00 | 78.96 | dev_rna_exp0016 | H03 | False | 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 | dev_rna_exp0016 | 1,2,3,4,5,6,7,8 | 1.00 | False | nfcore_rnafusion | 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 | BND | chr15 | chr15 | CRTC3 | NTRK3 | 90540137 | 88184299 | chr15:90540137-chr15:88184299 | +,- | STAR-Fusion | 1 | 0 | 27 | 0.0915 | 27 | PASS | out-of-frame | CRTC3--NTRK3 | CRTC3--NTRK3 | ["INTRACHROMOSOMAL[chr15:2.27Mb]"] | ONLY_REF_SPLICE | YES_LDAS | 1.8295 | False | False | False | GT | AG | 27 | False | 1 | ENST00000268184.11 | 1-231 | ENST00000626019.2 | 249-2595 | 0.0915 | PASS | atggccgcctcgccgggctcgggcagcgccaacccgcggaagttcagtgagaagatcgcgctgcacacgcagagacaggccgaggagacgcgggccttcgagcagctcatgaccgacctcaccctgtcgcgggttcaatttcagaagcttcagcaactgcgccttacacagtaccatggaggatccttaccaaatgtgagccagctgcggagcagtgcgtcagagtttcagACACATAGAGAACTGGCGCAGTCTTCACACGCTCAACGCCGTGGACATGGAGCTCTACACCGGACTTCAAAAGCTGACCATCAAGAACTCAGGACTTCGGAGCATTCAGCCCAGAGCCTTTGCCAAGAACCCCCATTTGCGTTATATAAACCTGTCAAGTAACCGGCTCACCACACTCTCGTGGCAGCTCTTCCAGACGCTGAGTCTTCGGGAATTGCAGTTGGAGCAGAACTTTTTCAACTGCAGCTGTGACATCCGCTGGATGCAGCTCTGGCAGGAGCAGGGGGAGGCCAAGCTCAACAGCCAGAACCTCTACTGCATCAACGCTGATGGCTCCCAGCTTCCTCTCTTCCGCATGAACATCAGTCAGTGTGACCTTCCTGAGATCAGCGTGAGCCACGTCAACCTGACCGTACGAGAGGGTGACAACGCTGTTATCACTTGCAATGGCTCTGGATCACCCCTTCCTGATGTGGACTGGATAGTCACTGGGCTGCAGTCCATCAACACTCACCAGACCAATCTGAACTGGACCAATGTTCATGCCATCAACTTGACGCTGGTGAATGTGACGAGTGAGGACAATGGCTTCACCCTGACGTGCATTGCAGAGAACGTGGTGGGCATGAGCAATGCCAGTGTTGCCCTCACTGTCTACTATCCCCCACGTGTGGTGAGCCTGGAGGAGCCTGAGCTGCGCCTGGAGCACTGCATCGAGTTTGTGGTGCGTGGCAACCCCCCACCAACGCTGCACTGGCTGCACAATGGGCAGCCTCTGCGGGAGTCCAAGATCATCCATGTGGAATACTACCAAGAGGGAGAGATTTCCGAGGGCTGCCTGCTCTTCAACAAGCCCACCCACTACAACAATGGCAACTATACCCTCATTGCCAAAAACCCACTGGGCACAGCCAACCAGACCATCAATGGCCACTTCCTCAAGGAGCCCTTTCCAGAGAGCACGGATAACTTTATCTTGTTTGACGAAGTGAGTCCCACACCTCCTATCACTGTGACCCACAAACCAGAAGAAGACACTTTTGGGGTATCCATAGCAGTTGGACTTGCTGCTTTTGCCTGTGTCCTGTTGGTGGTTCTCTTCGTCATGATCAACAAATATGGTCGACGGTCCAAATTTGGAATGAAGGGTCCCGTGGCTGTCATCAGTGGTGAGGAGGACTCAGCCAGCCCACTGCACCACATCAACCACGGCATCACCACGCCCTCGTCACTGGATGCCGGGCCCGACACTGTGGTCATTGGCATGACTCGCATCCCTGTCATTGAGAACCCCCAGTACTTCCGTCAGGGACACAACTGCCACAAGCCGGACACGTATGTGCAGCACATTAAGAGGAGAGACATCGTGCTGAAGCGAGAACTGGGTGAGGGAGCCTTTGGAAAGGTCTTCCTGGCCGAGTGCTACAACCTCAGCCCGACCAAGGACAAGATGCTTGTGGCTGTGAAGGCCCTGAAGGATCCCACCCTGGCTGCCCGGAAGGATTTCCAGAGGGAGGCCGAGCTGCTCACCAACCTGCAGCATGAGCACATTGTCAAGTTCTATGGAGTGTGCGGCGATGGGGACCCCCTCATCATGGTCTTTGAATACATGAAGCATGGAGACCTGAATAAGTTCCTCAGGGCCCATGGGCCAGATGCAATGATCCTTGTGGATGGACAGCCACGCCAGGCCAAGGGTGAGCTGGGGCTCTCCCAAATGCTCCACATTGCCAGTCAGATCGCCTCGGGTATGGTGTACCTGGCCTCCCAGCACTTTGTGCACCGAGACCTGGCCACCAGGAACTGCCTGGTTGGAGCGAATCTGCTAGTGAAGATTGGGGACTTCGGCATGTCCAGAGATGTCTACAGCACGGATTATTACAGGGAAGGGCCATGCCAGAAGGGCCCGTTCAGTGTGGTGTGGCAGCGGCAGAGGCTAGCAGCAACGGCAGCTTCCACACTCTTTAATCCATCTGGAAATGATTTTTGTATATGGTGTGAGGTGGGAGGACACACCATGCTCCCCATTCGCTGGATGCCTCCTGAAAGCATCATGTACCGGAAGTTCACTACAGAGAGTGATGTATGGAGCTTCGGGGTGATCCTCTGGGAGATCTTCACCTATGGAAAGCAGCCATGGTTCCAACTCTCAAACACGGAGGTCATTGAGTGCATTACCCAAGGTCGTGTTTTGGAGCGGCCCCGAGTCTGCCCCAAAGAGGTGTACGATGTCATGCTGGGGTGCTGGCAGAGGGAACCACAGCAGCGGTTGAACATCAAGGAGATCTACAAAATCCTCCATGCTTTGGGGAAGGCCACCCCAATCTACCTGGACATTCTTGGCTAG | chr15|+|[0]90530072-90530203[2]|[0]90540039-90540137[2]<==>chr15|-|[2]87876935-87877120[0]|[2]87880270-87880428[0]|[2]87885694-87885735[0]|[2]87908489-87908563[0]|[2]87929191-87929434[2]|[1]87933012-87933184[0]|[2]87940623-87940753[1]|[0]88032857-88033045[1]|[0]88126271-88126373[0]|[2]88127162-88127226[1]|[0]88128711-88128734[1]|[0]88135101-88135397[1]|[0]88135899-88136040[0]|[2]88136467-88136609[1]|[0]88137404-88137561[2]|[1]88147335-88147403[2]|[1]88183418-88183489[2]|[1]88184225-88184299[2] | MAASPGSGSANPRKFSEKIALHTQRQAEETRAFEQLMTDLTLSRVQFQKLQQLRLTQYHGGSLPNVSQLRSSASEFQTHRELAQSSHAQRRGHGALHRTSKADHQELRTSEHSAQSLCQEPPFALYKPVK*PAHHTLVAALPDAESSGIAVGAELFQLQL*HPLDAALAGAGGGQAQQPEPLLHQR*WLPASSLPHEHQSV*PS*DQREPRQPDRTRG*QRCYHLQWLWITPS*CGLDSHWAAVHQHSPDQSELDQCSCHQLDAGECDE*GQWLHPDVHCRERGGHEQCQCCPHCLLSPTCGEPGGA*AAPGALHRVCGAWQPPTNAALAAQWAASAGVQDHPCGILPRGRDFRGLPALQQAHPLQQWQLYPHCQKPTGHSQPDHQWPLPQGALSREHG*LYLV*RSESHTSYHCDPQTRRRHFWGIHSSWTCCFCLCPVGGSLRHDQQIWSTVQIWNEGSRGCHQW*GGLSQPTAPHQPRHHHALVTGCRARHCGHWHDSHPCH*EPPVLPSGTQLPQAGHVCAAH*EERHRAEARTG*GSLWKGLPGRVLQPQPDQGQDACGCEGPEGSHPGCPEGFPEGGRAAHQPAA*AHCQVLWSVRRWGPPHHGL*IHEAWRPE*VPQGPWARCNDPCGWTATPGQG*AGALPNAPHCQSDRLGYGVPGLPALCAPRPGHQELPGWSESASEDWGLRHVQRCLQHGLLQGRAMPEGPVQCGVAAAEASSNGSFHTL*SIWK*FLYMV*GGRTHHAPHSLDAS*KHHVPEVHYRE*CMELRGDPLGDLHLWKAAMVPTLKHGGH*VHYPRSCFGAAPSLPQRGVRCHAGVLAEGTTAAVEHQGDLQNPPCFGEGHPNLPGHSWL | CRTC3--NTRK3 | 27 | LH00995:25:23T55JLT4:1:1143:17496:25283,LH00995:25:23T55JLT4:1:1407:2610:27077,LH00995:25:23T55JLT4:1:2406:1316:25592,LH00995:25:23T55JLT4:1:2487:10198:10767,LH00995:25:23T55JLT4:2:1135:9454:18922,LH00995:25:23T55JLT4:2:1446:14607:8090,LH00995:25:23T55JLT4:2:2117:42372:26811,LH00995:25:23T55JLT4:2:2178:29525:10192,LH00995:25:23T55JLT4:2:2259:21670:22789,LH00995:25:23T55JLT4:2:2403:13564:18669,LH00995:25:23T55JLT4:3:2167:46328:20603,LH00995:25:23T55JLT4:3:2216:1356:15012,LH00995:25:23T55JLT4:3:2302:49273:25507,LH00995:25:23T55JLT4:3:2366:26273:26110,LH00995:25:23T55JLT4:3:2376:15522:7824,LH00995:25:23T55JLT4:3:2395:10562:16442,LH00995:25:23T55JLT4:4:1212:31200:10795,LH00995:25:23T55JLT4:4:1215:25537:18782,LH00995:25:23T55JLT4:4:1428:27252:9814,LH00995:25:23T55JLT4:5:2237:13580:8132,LH00995:25:23T55JLT4:5:2409:32616:5568,LH00995:25:23T55JLT4:6:1451:5814:4461,LH00995:25:23T55JLT4:8:1330:12148:2233,LH00995:25:23T55JLT4:8:1460:41620:25732,LH00995:25:23T55JLT4:8:2229:43537:4923,LH00995:25:23T55JLT4:8:2275:18693:20435,LH00995:25:23T55JLT4:8:2487:7618:9127 | YES_LDAS | GT | 1.9656 | chr15:90540137:+ | CRTC3^ENSG00000140577.16 | TORC_N|11-64|1.2e-21^TORC_M|51-70|0.19^TORC_M-PARTIAL|159-231~|1.3e-66 | I-set-PARTIAL|~249-301|2.8e-13^ig-PARTIAL|~249-298|2.4e-18^Ig_3-PARTIAL|~249-288|1.4e-12^Ig_2-PARTIAL|~249-301|3.5e-10^C2-set_2-PARTIAL|~249-287|1.4e-06^LRR_1|315-322|9.6^C2-set_2|319-345|6e-05^I-set|323-391|4.3e-10^Ig_3|325-382|1.1e-07^ig|326-386|0.0041^Ig_2|327-383|1.9e-05^TrkA_TMD|431-451|7.2e-05^PK_Tyr_Ser-Thr|539-719|1.6e-56^Pkinase|540-708|2.1e-32^Ig_3|737-765|1.9^I-set|744-764|5.7^PK_Tyr_Ser-Thr|753-848|4.5e-37^Pkinase|760-846|6.2e-14 | FRAMESHIFT | AG | 1.8295 | chr15:88184299:- | NTRK3^ENSG00000140538.16 | 0 | . | ONLY_REF_SPLICE | ["INTRACHROMOSOMAL[chr15:2.27Mb]"] | False | chr15:90540137-chr15:88184299 | 27.0 | 0.0 | 27 | 1173_SK8 | STAR-Fusion | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| fp_audit | 1173_SK8 | fusion | IDH2--NTRK3 | IDH2--NTRK3 | IDH2--NTRK3 | FP | FP | Arriba; STAR-Fusion | dev_rna_exp0016 | 1173_SK8 | altera_exact | 1173 | clinical | patient | lung | Lung | 62 | unknown | False | 1173_SK8_T1_RNA_SLD_01 | tRNA | altera_inhouse | ssf | 36.30 | 38.00 | 49.8 | AIH_Ext13_RNA | H01 | False | dev_rna_exp0016_lib_s24 | 200.00 | 78.96 | dev_rna_exp0016 | H03 | False | 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 | dev_rna_exp0016 | 1,2,3,4,5,6,7,8 | 1.00 | False | nfcore_rnafusion | 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 | BND | chr15 | chr15 | IDH2 | NTRK3 | 90102276 | 88184299 | chr15:90102276-chr15:88184299 | -,- | STAR-Fusion | 1 | 0 | 47 | 0.1593 | 47 | PASS | out-of-frame | IDH2--NTRK3 | IDH2--NTRK3 | ["INTRACHROMOSOMAL[chr15:1.83Mb]"] | ONLY_REF_SPLICE | YES_LDAS | 1.6895 | False | False | False | GT | AG | 47 | False | 1 | ENST00000560061.1 | 1-115 | ENST00000626019.2 | 249-2595 | 0.1593 | PASS | atggccggctacctgcgggtcgtgcgctcgctctgcagagcctcaggctcgcggccggcctgggcgccggcggccctgacagcccccacctcgcaagagcagccgcggcgccactACACATAGAGAACTGGCGCAGTCTTCACACGCTCAACGCCGTGGACATGGAGCTCTACACCGGACTTCAAAAGCTGACCATCAAGAACTCAGGACTTCGGAGCATTCAGCCCAGAGCCTTTGCCAAGAACCCCCATTTGCGTTATATAAACCTGTCAAGTAACCGGCTCACCACACTCTCGTGGCAGCTCTTCCAGACGCTGAGTCTTCGGGAATTGCAGTTGGAGCAGAACTTTTTCAACTGCAGCTGTGACATCCGCTGGATGCAGCTCTGGCAGGAGCAGGGGGAGGCCAAGCTCAACAGCCAGAACCTCTACTGCATCAACGCTGATGGCTCCCAGCTTCCTCTCTTCCGCATGAACATCAGTCAGTGTGACCTTCCTGAGATCAGCGTGAGCCACGTCAACCTGACCGTACGAGAGGGTGACAACGCTGTTATCACTTGCAATGGCTCTGGATCACCCCTTCCTGATGTGGACTGGATAGTCACTGGGCTGCAGTCCATCAACACTCACCAGACCAATCTGAACTGGACCAATGTTCATGCCATCAACTTGACGCTGGTGAATGTGACGAGTGAGGACAATGGCTTCACCCTGACGTGCATTGCAGAGAACGTGGTGGGCATGAGCAATGCCAGTGTTGCCCTCACTGTCTACTATCCCCCACGTGTGGTGAGCCTGGAGGAGCCTGAGCTGCGCCTGGAGCACTGCATCGAGTTTGTGGTGCGTGGCAACCCCCCACCAACGCTGCACTGGCTGCACAATGGGCAGCCTCTGCGGGAGTCCAAGATCATCCATGTGGAATACTACCAAGAGGGAGAGATTTCCGAGGGCTGCCTGCTCTTCAACAAGCCCACCCACTACAACAATGGCAACTATACCCTCATTGCCAAAAACCCACTGGGCACAGCCAACCAGACCATCAATGGCCACTTCCTCAAGGAGCCCTTTCCAGAGAGCACGGATAACTTTATCTTGTTTGACGAAGTGAGTCCCACACCTCCTATCACTGTGACCCACAAACCAGAAGAAGACACTTTTGGGGTATCCATAGCAGTTGGACTTGCTGCTTTTGCCTGTGTCCTGTTGGTGGTTCTCTTCGTCATGATCAACAAATATGGTCGACGGTCCAAATTTGGAATGAAGGGTCCCGTGGCTGTCATCAGTGGTGAGGAGGACTCAGCCAGCCCACTGCACCACATCAACCACGGCATCACCACGCCCTCGTCACTGGATGCCGGGCCCGACACTGTGGTCATTGGCATGACTCGCATCCCTGTCATTGAGAACCCCCAGTACTTCCGTCAGGGACACAACTGCCACAAGCCGGACACGTATGTGCAGCACATTAAGAGGAGAGACATCGTGCTGAAGCGAGAACTGGGTGAGGGAGCCTTTGGAAAGGTCTTCCTGGCCGAGTGCTACAACCTCAGCCCGACCAAGGACAAGATGCTTGTGGCTGTGAAGGCCCTGAAGGATCCCACCCTGGCTGCCCGGAAGGATTTCCAGAGGGAGGCCGAGCTGCTCACCAACCTGCAGCATGAGCACATTGTCAAGTTCTATGGAGTGTGCGGCGATGGGGACCCCCTCATCATGGTCTTTGAATACATGAAGCATGGAGACCTGAATAAGTTCCTCAGGGCCCATGGGCCAGATGCAATGATCCTTGTGGATGGACAGCCACGCCAGGCCAAGGGTGAGCTGGGGCTCTCCCAAATGCTCCACATTGCCAGTCAGATCGCCTCGGGTATGGTGTACCTGGCCTCCCAGCACTTTGTGCACCGAGACCTGGCCACCAGGAACTGCCTGGTTGGAGCGAATCTGCTAGTGAAGATTGGGGACTTCGGCATGTCCAGAGATGTCTACAGCACGGATTATTACAGGGAAGGGCCATGCCAGAAGGGCCCGTTCAGTGTGGTGTGGCAGCGGCAGAGGCTAGCAGCAACGGCAGCTTCCACACTCTTTAATCCATCTGGAAATGATTTTTGTATATGGTGTGAGGTGGGAGGACACACCATGCTCCCCATTCGCTGGATGCCTCCTGAAAGCATCATGTACCGGAAGTTCACTACAGAGAGTGATGTATGGAGCTTCGGGGTGATCCTCTGGGAGATCTTCACCTATGGAAAGCAGCCATGGTTCCAACTCTCAAACACGGAGGTCATTGAGTGCATTACCCAAGGTCGTGTTTTGGAGCGGCCCCGAGTCTGCCCCAAAGAGGTGTACGATGTCATGCTGGGGTGCTGGCAGAGGGAACCACAGCAGCGGTTGAACATCAAGGAGATCTACAAAATCCTCCATGCTTTGGGGAAGGCCACCCCAATCTACCTGGACATTCTTGGCTAG | chr15|-|[0]90102276-90102390[0]<==>chr15|-|[2]87876935-87877120[0]|[2]87880270-87880428[0]|[2]87885694-87885735[0]|[2]87908489-87908563[0]|[2]87929191-87929434[2]|[1]87933012-87933184[0]|[2]87940623-87940753[1]|[0]88032857-88033045[1]|[0]88126271-88126373[0]|[2]88127162-88127226[1]|[0]88128711-88128734[1]|[0]88135101-88135397[1]|[0]88135899-88136040[0]|[2]88136467-88136609[1]|[0]88137404-88137561[2]|[1]88147335-88147403[2]|[1]88183418-88183489[2]|[1]88184225-88184299[2] | MAGYLRVVRSLCRASGSRPAWAPAALTAPTSQEQPRRHYT*RTGAVFTRSTPWTWSSTPDFKS*PSRTQDFGAFSPEPLPRTPICVI*TCQVTGSPHSRGSSSRR*VFGNCSWSRTFSTAAVTSAGCSSGRSRGRPSSTARTSTASTLMAPSFLSSA*TSVSVTFLRSA*ATST*PYERVTTLLSLAMALDHPFLMWTG*SLGCSPSTLTRPI*TGPMFMPST*RW*M*RVRTMASP*RALQRTWWA*AMPVLPSLSTIPHVW*AWRSLSCAWSTASSLWCVATPHQRCTGCTMGSLCGSPRSSMWNTTKRERFPRAACSSTSPPTTTMATIPSLPKTHWAQPTRPSMATSSRSPFQRARITLSCLTK*VPHLLSL*PTNQKKTLLGYP*QLDLLLLPVSCWWFSSS*STNMVDGPNLE*RVPWLSSVVRRTQPAHCTTSTTASPRPRHWMPGPTLWSLA*LASLSLRTPSTSVRDTTATSRTRMCSTLRGETSC*SENWVREPLERSSWPSATTSARPRTRCLWL*RP*RIPPWLPGRISRGRPSCSPTCSMSTLSSSMECAAMGTPSSWSLNT*SMET*ISSSGPMGQMQ*SLWMDSHARPRVSWGSPKCSTLPVRSPRVWCTWPPSTLCTETWPPGTAWLERIC**RLGTSACPEMSTARIITGKGHARRARSVWCGSGRG*QQRQLPHSLIHLEMIFVYGVRWEDTPCSPFAGCLLKASCTGSSLQRVMYGASG*SSGRSSPMESSHGSNSQTRRSLSALPKVVFWSGPESAPKRCTMSCWGAGRGNHSSG*TSRRSTKSSMLWGRPPQSTWTFLA | IDH2--NTRK3 | 47 | LH00995:25:23T55JLT4:1:1123:6776:3382,LH00995:25:23T55JLT4:1:1180:37939:9940,LH00995:25:23T55JLT4:1:1278:25197:25367,LH00995:25:23T55JLT4:1:1330:13912:13751,LH00995:25:23T55JLT4:1:1396:32462:23770,LH00995:25:23T55JLT4:1:1397:48941:19524,LH00995:25:23T55JLT4:1:1451:36734:4125,LH00995:25:23T55JLT4:1:1464:27608:1771,LH00995:25:23T55JLT4:1:2113:8831:28296,LH00995:25:23T55JLT4:1:2115:18046:6955,LH00995:25:23T55JLT4:1:2329:7585:24989,LH00995:25:23T55JLT4:1:2374:15295:17633,LH00995:25:23T55JLT4:1:2446:21128:28912,LH00995:25:23T55JLT4:1:2473:11290:18880,LH00995:25:23T55JLT4:2:1229:24065:3760,LH00995:25:23T55JLT4:2:1267:15238:28997,LH00995:25:23T55JLT4:2:1310:5166:20827,LH00995:25:23T55JLT4:2:1394:40034:28478,LH00995:25:23T55JLT4:2:1437:27932:1378,LH00995:25:23T55JLT4:2:1488:7440:10052,LH00995:25:23T55JLT4:2:2219:2569:25606,LH00995:25:23T55JLT4:2:2450:40479:25774,LH00995:25:23T55JLT4:3:1482:3354:29347,LH00995:25:23T55JLT4:3:2168:18377:27651,LH00995:25:23T55JLT4:3:2177:11970:8651,LH00995:25:23T55JLT4:4:1229:11946:6563,LH00995:25:23T55JLT4:4:1436:40973:12140,LH00995:25:23T55JLT4:5:1191:27891:19412,LH00995:25:23T55JLT4:5:1272:32559:17408,LH00995:25:23T55JLT4:5:1337:43561:6843,LH00995:25:23T55JLT4:5:1443:33368:6535,LH00995:25:23T55JLT4:5:2153:48893:20645,LH00995:25:23T55JLT4:5:2277:32858:2289,LH00995:25:23T55JLT4:5:2462:44913:2037,LH00995:25:23T55JLT4:5:2466:47971:19076,LH00995:25:23T55JLT4:6:1108:5886:13359,LH00995:25:23T55JLT4:6:1139:8483:1070,LH00995:25:23T55JLT4:6:1373:17156:22509,LH00995:25:23T55JLT4:6:1378:15352:25325,LH00995:25:23T55JLT4:6:2253:28943:14031,LH00995:25:23T55JLT4:6:2447:39800:24709,LH00995:25:23T55JLT4:6:2466:36070:12840,LH00995:25:23T55JLT4:6:2484:21104:16932,LH00995:25:23T55JLT4:8:1331:39961:1589,LH00995:25:23T55JLT4:8:2180:7836:18950,LH00995:25:23T55JLT4:8:2450:7173:20239,LH00995:25:23T55JLT4:8:2483:5053:8076 | YES_LDAS | GT | 1.6895 | chr15:90102276:- | IDH2^ENSG00000182054.10 | . | I-set-PARTIAL|~249-301|2.8e-13^ig-PARTIAL|~249-298|2.4e-18^Ig_3-PARTIAL|~249-288|1.4e-12^Ig_2-PARTIAL|~249-301|3.5e-10^C2-set_2-PARTIAL|~249-287|1.4e-06^LRR_1|315-322|9.6^C2-set_2|319-345|6e-05^I-set|323-391|4.3e-10^Ig_3|325-382|1.1e-07^ig|326-386|0.0041^Ig_2|327-383|1.9e-05^TrkA_TMD|431-451|7.2e-05^PK_Tyr_Ser-Thr|539-719|1.6e-56^Pkinase|540-708|2.1e-32^Ig_3|737-765|1.9^I-set|744-764|5.7^PK_Tyr_Ser-Thr|753-848|4.5e-37^Pkinase|760-846|6.2e-14 | FRAMESHIFT | AG | 1.8295 | chr15:88184299:- | NTRK3^ENSG00000140538.16 | 0 | . | ONLY_REF_SPLICE | ["INTRACHROMOSOMAL[chr15:1.83Mb]"] | False | chr15:90102276-chr15:88184299 | 47.0 | 0.0 | 47 | 1173_SK8 | STAR-Fusion | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| fp_audit | 1173_SK8 | fusion | IDH2--NTRK3 | IDH2--NTRK3 | IDH2--NTRK3 | FP | FP | Arriba; STAR-Fusion | dev_rna_exp0016 | 1173_SK8 | altera_exact | 1173 | clinical | patient | lung | Lung | 62 | unknown | False | 1173_SK8_T1_RNA_SLD_01 | tRNA | altera_inhouse | ssf | 36.30 | 38.00 | 49.8 | AIH_Ext13_RNA | H01 | False | dev_rna_exp0016_lib_s24 | 200.00 | 78.96 | dev_rna_exp0016 | H03 | False | 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 | dev_rna_exp0016 | 1,2,3,4,5,6,7,8 | 1.00 | False | nfcore_rnafusion | 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_2 | BND | chr15 | chr15 | IDH2 | NTRK3 | 90102276 | 88184299 | chr15:90102276-chr15:88184299 | -,- | STAR-Fusion | 1 | 0 | 14 | 0.0686 | 14 | PASS | out-of-frame | IDH2--NTRK3 | IDH2--NTRK3 | ["INTRACHROMOSOMAL[chr15:1.83Mb]"] | ONLY_REF_SPLICE | YES_LDAS | 1.6895 | False | False | False | GT | AG | 14 | False | 1 | ENST00000560061.1 | 1-115 | ENST00000626019.2 | 249-2595 | 0.0686 | PASS | atggccggctacctgcgggtcgtgcgctcgctctgcagagcctcaggctcgcggccggcctgggcgccggcggccctgacagcccccacctcgcaagagcagccgcggcgccactACACATAGAGAACTGGCGCAGTCTTCACACGCTCAACGCCGTGGACATGGAGCTCTACACCGGACTTCAAAAGCTGACCATCAAGAACTCAGGACTTCGGAGCATTCAGCCCAGAGCCTTTGCCAAGAACCCCCATTTGCGTTATATAAACCTGTCAAGTAACCGGCTCACCACACTCTCGTGGCAGCTCTTCCAGACGCTGAGTCTTCGGGAATTGCAGTTGGAGCAGAACTTTTTCAACTGCAGCTGTGACATCCGCTGGATGCAGCTCTGGCAGGAGCAGGGGGAGGCCAAGCTCAACAGCCAGAACCTCTACTGCATCAACGCTGATGGCTCCCAGCTTCCTCTCTTCCGCATGAACATCAGTCAGTGTGACCTTCCTGAGATCAGCGTGAGCCACGTCAACCTGACCGTACGAGAGGGTGACAACGCTGTTATCACTTGCAATGGCTCTGGATCACCCCTTCCTGATGTGGACTGGATAGTCACTGGGCTGCAGTCCATCAACACTCACCAGACCAATCTGAACTGGACCAATGTTCATGCCATCAACTTGACGCTGGTGAATGTGACGAGTGAGGACAATGGCTTCACCCTGACGTGCATTGCAGAGAACGTGGTGGGCATGAGCAATGCCAGTGTTGCCCTCACTGTCTACTATCCCCCACGTGTGGTGAGCCTGGAGGAGCCTGAGCTGCGCCTGGAGCACTGCATCGAGTTTGTGGTGCGTGGCAACCCCCCACCAACGCTGCACTGGCTGCACAATGGGCAGCCTCTGCGGGAGTCCAAGATCATCCATGTGGAATACTACCAAGAGGGAGAGATTTCCGAGGGCTGCCTGCTCTTCAACAAGCCCACCCACTACAACAATGGCAACTATACCCTCATTGCCAAAAACCCACTGGGCACAGCCAACCAGACCATCAATGGCCACTTCCTCAAGGAGCCCTTTCCAGAGAGCACGGATAACTTTATCTTGTTTGACGAAGTGAGTCCCACACCTCCTATCACTGTGACCCACAAACCAGAAGAAGACACTTTTGGGGTATCCATAGCAGTTGGACTTGCTGCTTTTGCCTGTGTCCTGTTGGTGGTTCTCTTCGTCATGATCAACAAATATGGTCGACGGTCCAAATTTGGAATGAAGGGTCCCGTGGCTGTCATCAGTGGTGAGGAGGACTCAGCCAGCCCACTGCACCACATCAACCACGGCATCACCACGCCCTCGTCACTGGATGCCGGGCCCGACACTGTGGTCATTGGCATGACTCGCATCCCTGTCATTGAGAACCCCCAGTACTTCCGTCAGGGACACAACTGCCACAAGCCGGACACGTATGTGCAGCACATTAAGAGGAGAGACATCGTGCTGAAGCGAGAACTGGGTGAGGGAGCCTTTGGAAAGGTCTTCCTGGCCGAGTGCTACAACCTCAGCCCGACCAAGGACAAGATGCTTGTGGCTGTGAAGGCCCTGAAGGATCCCACCCTGGCTGCCCGGAAGGATTTCCAGAGGGAGGCCGAGCTGCTCACCAACCTGCAGCATGAGCACATTGTCAAGTTCTATGGAGTGTGCGGCGATGGGGACCCCCTCATCATGGTCTTTGAATACATGAAGCATGGAGACCTGAATAAGTTCCTCAGGGCCCATGGGCCAGATGCAATGATCCTTGTGGATGGACAGCCACGCCAGGCCAAGGGTGAGCTGGGGCTCTCCCAAATGCTCCACATTGCCAGTCAGATCGCCTCGGGTATGGTGTACCTGGCCTCCCAGCACTTTGTGCACCGAGACCTGGCCACCAGGAACTGCCTGGTTGGAGCGAATCTGCTAGTGAAGATTGGGGACTTCGGCATGTCCAGAGATGTCTACAGCACGGATTATTACAGGGAAGGGCCATGCCAGAAGGGCCCGTTCAGTGTGGTGTGGCAGCGGCAGAGGCTAGCAGCAACGGCAGCTTCCACACTCTTTAATCCATCTGGAAATGATTTTTGTATATGGTGTGAGGTGGGAGGACACACCATGCTCCCCATTCGCTGGATGCCTCCTGAAAGCATCATGTACCGGAAGTTCACTACAGAGAGTGATGTATGGAGCTTCGGGGTGATCCTCTGGGAGATCTTCACCTATGGAAAGCAGCCATGGTTCCAACTCTCAAACACGGAGGTCATTGAGTGCATTACCCAAGGTCGTGTTTTGGAGCGGCCCCGAGTCTGCCCCAAAGAGGTGTACGATGTCATGCTGGGGTGCTGGCAGAGGGAACCACAGCAGCGGTTGAACATCAAGGAGATCTACAAAATCCTCCATGCTTTGGGGAAGGCCACCCCAATCTACCTGGACATTCTTGGCTAG | chr15|-|[0]90102276-90102390[0]<==>chr15|-|[2]87876935-87877120[0]|[2]87880270-87880428[0]|[2]87885694-87885735[0]|[2]87908489-87908563[0]|[2]87929191-87929434[2]|[1]87933012-87933184[0]|[2]87940623-87940753[1]|[0]88032857-88033045[1]|[0]88126271-88126373[0]|[2]88127162-88127226[1]|[0]88128711-88128734[1]|[0]88135101-88135397[1]|[0]88135899-88136040[0]|[2]88136467-88136609[1]|[0]88137404-88137561[2]|[1]88147335-88147403[2]|[1]88183418-88183489[2]|[1]88184225-88184299[2] | MAGYLRVVRSLCRASGSRPAWAPAALTAPTSQEQPRRHYT*RTGAVFTRSTPWTWSSTPDFKS*PSRTQDFGAFSPEPLPRTPICVI*TCQVTGSPHSRGSSSRR*VFGNCSWSRTFSTAAVTSAGCSSGRSRGRPSSTARTSTASTLMAPSFLSSA*TSVSVTFLRSA*ATST*PYERVTTLLSLAMALDHPFLMWTG*SLGCSPSTLTRPI*TGPMFMPST*RW*M*RVRTMASP*RALQRTWWA*AMPVLPSLSTIPHVW*AWRSLSCAWSTASSLWCVATPHQRCTGCTMGSLCGSPRSSMWNTTKRERFPRAACSSTSPPTTTMATIPSLPKTHWAQPTRPSMATSSRSPFQRARITLSCLTK*VPHLLSL*PTNQKKTLLGYP*QLDLLLLPVSCWWFSSS*STNMVDGPNLE*RVPWLSSVVRRTQPAHCTTSTTASPRPRHWMPGPTLWSLA*LASLSLRTPSTSVRDTTATSRTRMCSTLRGETSC*SENWVREPLERSSWPSATTSARPRTRCLWL*RP*RIPPWLPGRISRGRPSCSPTCSMSTLSSSMECAAMGTPSSWSLNT*SMET*ISSSGPMGQMQ*SLWMDSHARPRVSWGSPKCSTLPVRSPRVWCTWPPSTLCTETWPPGTAWLERIC**RLGTSACPEMSTARIITGKGHARRARSVWCGSGRG*QQRQLPHSLIHLEMIFVYGVRWEDTPCSPFAGCLLKASCTGSSLQRVMYGASG*SSGRSSPMESSHGSNSQTRRSLSALPKVVFWSGPESAPKRCTMSCWGAGRGNHSSG*TSRRSTKSSMLWGRPPQSTWTFLA | IDH2--NTRK3 | 14 | LH00995:25:23T55JLT4:1:1296:37551:4503,LH00995:25:23T55JLT4:2:1253:24356:25311,LH00995:25:23T55JLT4:2:2213:41321:11425,LH00995:25:23T55JLT4:3:1104:41377:26236,LH00995:25:23T55JLT4:3:1174:45883:15993,LH00995:25:23T55JLT4:3:2281:50098:5582,LH00995:25:23T55JLT4:4:2125:31079:15909,LH00995:25:23T55JLT4:6:1427:3961:12294,LH00995:25:23T55JLT4:6:1490:13693:10963,LH00995:25:23T55JLT4:6:2377:51651:8581,LH00995:25:23T55JLT4:6:2381:12229:13247,LH00995:25:23T55JLT4:7:2427:12188:23125,LH00995:25:23T55JLT4:8:1465:42963:21500,LH00995:25:23T55JLT4:8:2478:4171:26390 | YES_LDAS | GT | 1.6895 | chr15:90102276:- | IDH2^ENSG00000182054.10 | . | I-set-PARTIAL|~249-301|2.8e-13^ig-PARTIAL|~249-298|2.4e-18^Ig_3-PARTIAL|~249-288|1.4e-12^Ig_2-PARTIAL|~249-301|3.5e-10^C2-set_2-PARTIAL|~249-287|1.4e-06^LRR_1|315-322|9.6^C2-set_2|319-345|6e-05^I-set|323-391|4.3e-10^Ig_3|325-382|1.1e-07^ig|326-386|0.0041^Ig_2|327-383|1.9e-05^TrkA_TMD|431-451|7.2e-05^PK_Tyr_Ser-Thr|539-719|1.6e-56^Pkinase|540-708|2.1e-32^Ig_3|737-765|1.9^I-set|744-764|5.7^PK_Tyr_Ser-Thr|753-848|4.5e-37^Pkinase|760-846|6.2e-14 | FRAMESHIFT | AG | 1.8295 | chr15:88184299:- | NTRK3^ENSG00000140538.16 | 0 | . | ONLY_REF_SPLICE | ["INTRACHROMOSOMAL[chr15:1.83Mb]"] | False | chr15:90102276-chr15:88184299 | 14.0 | 0.0 | 14 | 1173_SK8 | STAR-Fusion | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| fp_audit | 1173_SK8 | fusion | IDH2--NTRK3 | IDH2--NTRK3 | IDH2--NTRK3 | FP | FP | Arriba; STAR-Fusion | dev_rna_exp0016 | 1173_SK8 | altera_exact | 1173 | clinical | patient | lung | Lung | 62 | unknown | False | 1173_SK8_T1_RNA_SLD_01 | tRNA | altera_inhouse | ssf | 36.30 | 38.00 | 49.8 | AIH_Ext13_RNA | H01 | False | dev_rna_exp0016_lib_s24 | 200.00 | 78.96 | dev_rna_exp0016 | H03 | False | 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 | dev_rna_exp0016 | 1,2,3,4,5,6,7,8 | 1.00 | False | nfcore_rnafusion | 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_2 | BND | chr15 | chr15 | IDH2 | NTRK3 | 90102276 | 88184299 | chr15:90102276-chr15:88184299 | -,- | STAR-Fusion | 1 | 0 | 14 | 0.0686 | 14 | PASS | out-of-frame | IDH2--NTRK3 | IDH2--NTRK3 | ["INTRACHROMOSOMAL[chr15:1.83Mb]"] | ONLY_REF_SPLICE | YES_LDAS | 1.6895 | False | False | False | GT | AG | 14 | False | 1 | ENST00000560061.1 | 1-115 | ENST00000626019.2 | 249-2595 | 0.0686 | PASS | atggccggctacctgcgggtcgtgcgctcgctctgcagagcctcaggctcgcggccggcctgggcgccggcggccctgacagcccccacctcgcaagagcagccgcggcgccactACACATAGAGAACTGGCGCAGTCTTCACACGCTCAACGCCGTGGACATGGAGCTCTACACCGGACTTCAAAAGCTGACCATCAAGAACTCAGGACTTCGGAGCATTCAGCCCAGAGCCTTTGCCAAGAACCCCCATTTGCGTTATATAAACCTGTCAAGTAACCGGCTCACCACACTCTCGTGGCAGCTCTTCCAGACGCTGAGTCTTCGGGAATTGCAGTTGGAGCAGAACTTTTTCAACTGCAGCTGTGACATCCGCTGGATGCAGCTCTGGCAGGAGCAGGGGGAGGCCAAGCTCAACAGCCAGAACCTCTACTGCATCAACGCTGATGGCTCCCAGCTTCCTCTCTTCCGCATGAACATCAGTCAGTGTGACCTTCCTGAGATCAGCGTGAGCCACGTCAACCTGACCGTACGAGAGGGTGACAACGCTGTTATCACTTGCAATGGCTCTGGATCACCCCTTCCTGATGTGGACTGGATAGTCACTGGGCTGCAGTCCATCAACACTCACCAGACCAATCTGAACTGGACCAATGTTCATGCCATCAACTTGACGCTGGTGAATGTGACGAGTGAGGACAATGGCTTCACCCTGACGTGCATTGCAGAGAACGTGGTGGGCATGAGCAATGCCAGTGTTGCCCTCACTGTCTACTATCCCCCACGTGTGGTGAGCCTGGAGGAGCCTGAGCTGCGCCTGGAGCACTGCATCGAGTTTGTGGTGCGTGGCAACCCCCCACCAACGCTGCACTGGCTGCACAATGGGCAGCCTCTGCGGGAGTCCAAGATCATCCATGTGGAATACTACCAAGAGGGAGAGATTTCCGAGGGCTGCCTGCTCTTCAACAAGCCCACCCACTACAACAATGGCAACTATACCCTCATTGCCAAAAACCCACTGGGCACAGCCAACCAGACCATCAATGGCCACTTCCTCAAGGAGCCCTTTCCAGAGAGCACGGATAACTTTATCTTGTTTGACGAAGTGAGTCCCACACCTCCTATCACTGTGACCCACAAACCAGAAGAAGACACTTTTGGGGTATCCATAGCAGTTGGACTTGCTGCTTTTGCCTGTGTCCTGTTGGTGGTTCTCTTCGTCATGATCAACAAATATGGTCGACGGTCCAAATTTGGAATGAAGGGTCCCGTGGCTGTCATCAGTGGTGAGGAGGACTCAGCCAGCCCACTGCACCACATCAACCACGGCATCACCACGCCCTCGTCACTGGATGCCGGGCCCGACACTGTGGTCATTGGCATGACTCGCATCCCTGTCATTGAGAACCCCCAGTACTTCCGTCAGGGACACAACTGCCACAAGCCGGACACGTATGTGCAGCACATTAAGAGGAGAGACATCGTGCTGAAGCGAGAACTGGGTGAGGGAGCCTTTGGAAAGGTCTTCCTGGCCGAGTGCTACAACCTCAGCCCGACCAAGGACAAGATGCTTGTGGCTGTGAAGGCCCTGAAGGATCCCACCCTGGCTGCCCGGAAGGATTTCCAGAGGGAGGCCGAGCTGCTCACCAACCTGCAGCATGAGCACATTGTCAAGTTCTATGGAGTGTGCGGCGATGGGGACCCCCTCATCATGGTCTTTGAATACATGAAGCATGGAGACCTGAATAAGTTCCTCAGGGCCCATGGGCCAGATGCAATGATCCTTGTGGATGGACAGCCACGCCAGGCCAAGGGTGAGCTGGGGCTCTCCCAAATGCTCCACATTGCCAGTCAGATCGCCTCGGGTATGGTGTACCTGGCCTCCCAGCACTTTGTGCACCGAGACCTGGCCACCAGGAACTGCCTGGTTGGAGCGAATCTGCTAGTGAAGATTGGGGACTTCGGCATGTCCAGAGATGTCTACAGCACGGATTATTACAGGGAAGGGCCATGCCAGAAGGGCCCGTTCAGTGTGGTGTGGCAGCGGCAGAGGCTAGCAGCAACGGCAGCTTCCACACTCTTTAATCCATCTGGAAATGATTTTTGTATATGGTGTGAGGTGGGAGGACACACCATGCTCCCCATTCGCTGGATGCCTCCTGAAAGCATCATGTACCGGAAGTTCACTACAGAGAGTGATGTATGGAGCTTCGGGGTGATCCTCTGGGAGATCTTCACCTATGGAAAGCAGCCATGGTTCCAACTCTCAAACACGGAGGTCATTGAGTGCATTACCCAAGGTCGTGTTTTGGAGCGGCCCCGAGTCTGCCCCAAAGAGGTGTACGATGTCATGCTGGGGTGCTGGCAGAGGGAACCACAGCAGCGGTTGAACATCAAGGAGATCTACAAAATCCTCCATGCTTTGGGGAAGGCCACCCCAATCTACCTGGACATTCTTGGCTAG | chr15|-|[0]90102276-90102390[0]<==>chr15|-|[2]87876935-87877120[0]|[2]87880270-87880428[0]|[2]87885694-87885735[0]|[2]87908489-87908563[0]|[2]87929191-87929434[2]|[1]87933012-87933184[0]|[2]87940623-87940753[1]|[0]88032857-88033045[1]|[0]88126271-88126373[0]|[2]88127162-88127226[1]|[0]88128711-88128734[1]|[0]88135101-88135397[1]|[0]88135899-88136040[0]|[2]88136467-88136609[1]|[0]88137404-88137561[2]|[1]88147335-88147403[2]|[1]88183418-88183489[2]|[1]88184225-88184299[2] | MAGYLRVVRSLCRASGSRPAWAPAALTAPTSQEQPRRHYT*RTGAVFTRSTPWTWSSTPDFKS*PSRTQDFGAFSPEPLPRTPICVI*TCQVTGSPHSRGSSSRR*VFGNCSWSRTFSTAAVTSAGCSSGRSRGRPSSTARTSTASTLMAPSFLSSA*TSVSVTFLRSA*ATST*PYERVTTLLSLAMALDHPFLMWTG*SLGCSPSTLTRPI*TGPMFMPST*RW*M*RVRTMASP*RALQRTWWA*AMPVLPSLSTIPHVW*AWRSLSCAWSTASSLWCVATPHQRCTGCTMGSLCGSPRSSMWNTTKRERFPRAACSSTSPPTTTMATIPSLPKTHWAQPTRPSMATSSRSPFQRARITLSCLTK*VPHLLSL*PTNQKKTLLGYP*QLDLLLLPVSCWWFSSS*STNMVDGPNLE*RVPWLSSVVRRTQPAHCTTSTTASPRPRHWMPGPTLWSLA*LASLSLRTPSTSVRDTTATSRTRMCSTLRGETSC*SENWVREPLERSSWPSATTSARPRTRCLWL*RP*RIPPWLPGRISRGRPSCSPTCSMSTLSSSMECAAMGTPSSWSLNT*SMET*ISSSGPMGQMQ*SLWMDSHARPRVSWGSPKCSTLPVRSPRVWCTWPPSTLCTETWPPGTAWLERIC**RLGTSACPEMSTARIITGKGHARRARSVWCGSGRG*QQRQLPHSLIHLEMIFVYGVRWEDTPCSPFAGCLLKASCTGSSLQRVMYGASG*SSGRSSPMESSHGSNSQTRRSLSALPKVVFWSGPESAPKRCTMSCWGAGRGNHSSG*TSRRSTKSSMLWGRPPQSTWTFLA | IDH2--NTRK3 | 14 | LH00995:25:23T55JLT4:1:1296:37551:4503,LH00995:25:23T55JLT4:2:1253:24356:25311,LH00995:25:23T55JLT4:2:2213:41321:11425,LH00995:25:23T55JLT4:3:1104:41377:26236,LH00995:25:23T55JLT4:3:1174:45883:15993,LH00995:25:23T55JLT4:3:2281:50098:5582,LH00995:25:23T55JLT4:4:2125:31079:15909,LH00995:25:23T55JLT4:6:1427:3961:12294,LH00995:25:23T55JLT4:6:1490:13693:10963,LH00995:25:23T55JLT4:6:2377:51651:8581,LH00995:25:23T55JLT4:6:2381:12229:13247,LH00995:25:23T55JLT4:7:2427:12188:23125,LH00995:25:23T55JLT4:8:1465:42963:21500,LH00995:25:23T55JLT4:8:2478:4171:26390 | YES_LDAS | GT | 1.6895 | chr15:90102276:- | IDH2^ENSG00000182054.10 | . | I-set-PARTIAL|~249-301|2.8e-13^ig-PARTIAL|~249-298|2.4e-18^Ig_3-PARTIAL|~249-288|1.4e-12^Ig_2-PARTIAL|~249-301|3.5e-10^C2-set_2-PARTIAL|~249-287|1.4e-06^LRR_1|315-322|9.6^C2-set_2|319-345|6e-05^I-set|323-391|4.3e-10^Ig_3|325-382|1.1e-07^ig|326-386|0.0041^Ig_2|327-383|1.9e-05^TrkA_TMD|431-451|7.2e-05^PK_Tyr_Ser-Thr|539-719|1.6e-56^Pkinase|540-708|2.1e-32^Ig_3|737-765|1.9^I-set|744-764|5.7^PK_Tyr_Ser-Thr|753-848|4.5e-37^Pkinase|760-846|6.2e-14 | FRAMESHIFT | AG | 1.8295 | chr15:88184299:- | NTRK3^ENSG00000140538.16 | 0 | . | ONLY_REF_SPLICE | ["INTRACHROMOSOMAL[chr15:1.83Mb]"] | False | chr15:90102276-chr15:88184299 | 14.0 | 0.0 | 14 | 1173_SK8 | STAR-Fusion | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| fp_audit | 1173_SK8 | fusion | IDH2--NTRK3 | IDH2--NTRK3 | IDH2--NTRK3 | FP | FP | Arriba; STAR-Fusion | dev_rna_exp0016 | 1173_SK8 | altera_exact | 1173 | clinical | patient | lung | Lung | 62 | unknown | False | 1173_SK8_T1_RNA_SLD_01 | tRNA | altera_inhouse | ssf | 36.30 | 38.00 | 49.8 | AIH_Ext13_RNA | H01 | False | dev_rna_exp0016_lib_s24 | 200.00 | 78.96 | dev_rna_exp0016 | H03 | False | 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 | dev_rna_exp0016 | 1,2,3,4,5,6,7,8 | 1.00 | False | nfcore_rnafusion | 1173_SK8_T1_RNA_SLD_01_A23T55JLT4_1 | BND | chr15 | chr15 | IDH2 | NTRK3 | 90102276 | 88184299 | chr15:90102276-chr15:88184299 | -,- | STAR-Fusion | 1 | 0 | 47 | 0.1593 | 47 | PASS | out-of-frame | IDH2--NTRK3 | IDH2--NTRK3 | ["INTRACHROMOSOMAL[chr15:1.83Mb]"] | ONLY_REF_SPLICE | YES_LDAS | 1.6895 | False | False | False | GT | AG | 47 | False | 1 | ENST00000560061.1 | 1-115 | ENST00000626019.2 | 249-2595 | 0.1593 | PASS | atggccggctacctgcgggtcgtgcgctcgctctgcagagcctcaggctcgcggccggcctgggcgccggcggccctgacagcccccacctcgcaagagcagccgcggcgccactACACATAGAGAACTGGCGCAGTCTTCACACGCTCAACGCCGTGGACATGGAGCTCTACACCGGACTTCAAAAGCTGACCATCAAGAACTCAGGACTTCGGAGCATTCAGCCCAGAGCCTTTGCCAAGAACCCCCATTTGCGTTATATAAACCTGTCAAGTAACCGGCTCACCACACTCTCGTGGCAGCTCTTCCAGACGCTGAGTCTTCGGGAATTGCAGTTGGAGCAGAACTTTTTCAACTGCAGCTGTGACATCCGCTGGATGCAGCTCTGGCAGGAGCAGGGGGAGGCCAAGCTCAACAGCCAGAACCTCTACTGCATCAACGCTGATGGCTCCCAGCTTCCTCTCTTCCGCATGAACATCAGTCAGTGTGACCTTCCTGAGATCAGCGTGAGCCACGTCAACCTGACCGTACGAGAGGGTGACAACGCTGTTATCACTTGCAATGGCTCTGGATCACCCCTTCCTGATGTGGACTGGATAGTCACTGGGCTGCAGTCCATCAACACTCACCAGACCAATCTGAACTGGACCAATGTTCATGCCATCAACTTGACGCTGGTGAATGTGACGAGTGAGGACAATGGCTTCACCCTGACGTGCATTGCAGAGAACGTGGTGGGCATGAGCAATGCCAGTGTTGCCCTCACTGTCTACTATCCCCCACGTGTGGTGAGCCTGGAGGAGCCTGAGCTGCGCCTGGAGCACTGCATCGAGTTTGTGGTGCGTGGCAACCCCCCACCAACGCTGCACTGGCTGCACAATGGGCAGCCTCTGCGGGAGTCCAAGATCATCCATGTGGAATACTACCAAGAGGGAGAGATTTCCGAGGGCTGCCTGCTCTTCAACAAGCCCACCCACTACAACAATGGCAACTATACCCTCATTGCCAAAAACCCACTGGGCACAGCCAACCAGACCATCAATGGCCACTTCCTCAAGGAGCCCTTTCCAGAGAGCACGGATAACTTTATCTTGTTTGACGAAGTGAGTCCCACACCTCCTATCACTGTGACCCACAAACCAGAAGAAGACACTTTTGGGGTATCCATAGCAGTTGGACTTGCTGCTTTTGCCTGTGTCCTGTTGGTGGTTCTCTTCGTCATGATCAACAAATATGGTCGACGGTCCAAATTTGGAATGAAGGGTCCCGTGGCTGTCATCAGTGGTGAGGAGGACTCAGCCAGCCCACTGCACCACATCAACCACGGCATCACCACGCCCTCGTCACTGGATGCCGGGCCCGACACTGTGGTCATTGGCATGACTCGCATCCCTGTCATTGAGAACCCCCAGTACTTCCGTCAGGGACACAACTGCCACAAGCCGGACACGTATGTGCAGCACATTAAGAGGAGAGACATCGTGCTGAAGCGAGAACTGGGTGAGGGAGCCTTTGGAAAGGTCTTCCTGGCCGAGTGCTACAACCTCAGCCCGACCAAGGACAAGATGCTTGTGGCTGTGAAGGCCCTGAAGGATCCCACCCTGGCTGCCCGGAAGGATTTCCAGAGGGAGGCCGAGCTGCTCACCAACCTGCAGCATGAGCACATTGTCAAGTTCTATGGAGTGTGCGGCGATGGGGACCCCCTCATCATGGTCTTTGAATACATGAAGCATGGAGACCTGAATAAGTTCCTCAGGGCCCATGGGCCAGATGCAATGATCCTTGTGGATGGACAGCCACGCCAGGCCAAGGGTGAGCTGGGGCTCTCCCAAATGCTCCACATTGCCAGTCAGATCGCCTCGGGTATGGTGTACCTGGCCTCCCAGCACTTTGTGCACCGAGACCTGGCCACCAGGAACTGCCTGGTTGGAGCGAATCTGCTAGTGAAGATTGGGGACTTCGGCATGTCCAGAGATGTCTACAGCACGGATTATTACAGGGAAGGGCCATGCCAGAAGGGCCCGTTCAGTGTGGTGTGGCAGCGGCAGAGGCTAGCAGCAACGGCAGCTTCCACACTCTTTAATCCATCTGGAAATGATTTTTGTATATGGTGTGAGGTGGGAGGACACACCATGCTCCCCATTCGCTGGATGCCTCCTGAAAGCATCATGTACCGGAAGTTCACTACAGAGAGTGATGTATGGAGCTTCGGGGTGATCCTCTGGGAGATCTTCACCTATGGAAAGCAGCCATGGTTCCAACTCTCAAACACGGAGGTCATTGAGTGCATTACCCAAGGTCGTGTTTTGGAGCGGCCCCGAGTCTGCCCCAAAGAGGTGTACGATGTCATGCTGGGGTGCTGGCAGAGGGAACCACAGCAGCGGTTGAACATCAAGGAGATCTACAAAATCCTCCATGCTTTGGGGAAGGCCACCCCAATCTACCTGGACATTCTTGGCTAG | chr15|-|[0]90102276-90102390[0]<==>chr15|-|[2]87876935-87877120[0]|[2]87880270-87880428[0]|[2]87885694-87885735[0]|[2]87908489-87908563[0]|[2]87929191-87929434[2]|[1]87933012-87933184[0]|[2]87940623-87940753[1]|[0]88032857-88033045[1]|[0]88126271-88126373[0]|[2]88127162-88127226[1]|[0]88128711-88128734[1]|[0]88135101-88135397[1]|[0]88135899-88136040[0]|[2]88136467-88136609[1]|[0]88137404-88137561[2]|[1]88147335-88147403[2]|[1]88183418-88183489[2]|[1]88184225-88184299[2] | MAGYLRVVRSLCRASGSRPAWAPAALTAPTSQEQPRRHYT*RTGAVFTRSTPWTWSSTPDFKS*PSRTQDFGAFSPEPLPRTPICVI*TCQVTGSPHSRGSSSRR*VFGNCSWSRTFSTAAVTSAGCSSGRSRGRPSSTARTSTASTLMAPSFLSSA*TSVSVTFLRSA*ATST*PYERVTTLLSLAMALDHPFLMWTG*SLGCSPSTLTRPI*TGPMFMPST*RW*M*RVRTMASP*RALQRTWWA*AMPVLPSLSTIPHVW*AWRSLSCAWSTASSLWCVATPHQRCTGCTMGSLCGSPRSSMWNTTKRERFPRAACSSTSPPTTTMATIPSLPKTHWAQPTRPSMATSSRSPFQRARITLSCLTK*VPHLLSL*PTNQKKTLLGYP*QLDLLLLPVSCWWFSSS*STNMVDGPNLE*RVPWLSSVVRRTQPAHCTTSTTASPRPRHWMPGPTLWSLA*LASLSLRTPSTSVRDTTATSRTRMCSTLRGETSC*SENWVREPLERSSWPSATTSARPRTRCLWL*RP*RIPPWLPGRISRGRPSCSPTCSMSTLSSSMECAAMGTPSSWSLNT*SMET*ISSSGPMGQMQ*SLWMDSHARPRVSWGSPKCSTLPVRSPRVWCTWPPSTLCTETWPPGTAWLERIC**RLGTSACPEMSTARIITGKGHARRARSVWCGSGRG*QQRQLPHSLIHLEMIFVYGVRWEDTPCSPFAGCLLKASCTGSSLQRVMYGASG*SSGRSSPMESSHGSNSQTRRSLSALPKVVFWSGPESAPKRCTMSCWGAGRGNHSSG*TSRRSTKSSMLWGRPPQSTWTFLA | IDH2--NTRK3 | 47 | LH00995:25:23T55JLT4:1:1123:6776:3382,LH00995:25:23T55JLT4:1:1180:37939:9940,LH00995:25:23T55JLT4:1:1278:25197:25367,LH00995:25:23T55JLT4:1:1330:13912:13751,LH00995:25:23T55JLT4:1:1396:32462:23770,LH00995:25:23T55JLT4:1:1397:48941:19524,LH00995:25:23T55JLT4:1:1451:36734:4125,LH00995:25:23T55JLT4:1:1464:27608:1771,LH00995:25:23T55JLT4:1:2113:8831:28296,LH00995:25:23T55JLT4:1:2115:18046:6955,LH00995:25:23T55JLT4:1:2329:7585:24989,LH00995:25:23T55JLT4:1:2374:15295:17633,LH00995:25:23T55JLT4:1:2446:21128:28912,LH00995:25:23T55JLT4:1:2473:11290:18880,LH00995:25:23T55JLT4:2:1229:24065:3760,LH00995:25:23T55JLT4:2:1267:15238:28997,LH00995:25:23T55JLT4:2:1310:5166:20827,LH00995:25:23T55JLT4:2:1394:40034:28478,LH00995:25:23T55JLT4:2:1437:27932:1378,LH00995:25:23T55JLT4:2:1488:7440:10052,LH00995:25:23T55JLT4:2:2219:2569:25606,LH00995:25:23T55JLT4:2:2450:40479:25774,LH00995:25:23T55JLT4:3:1482:3354:29347,LH00995:25:23T55JLT4:3:2168:18377:27651,LH00995:25:23T55JLT4:3:2177:11970:8651,LH00995:25:23T55JLT4:4:1229:11946:6563,LH00995:25:23T55JLT4:4:1436:40973:12140,LH00995:25:23T55JLT4:5:1191:27891:19412,LH00995:25:23T55JLT4:5:1272:32559:17408,LH00995:25:23T55JLT4:5:1337:43561:6843,LH00995:25:23T55JLT4:5:1443:33368:6535,LH00995:25:23T55JLT4:5:2153:48893:20645,LH00995:25:23T55JLT4:5:2277:32858:2289,LH00995:25:23T55JLT4:5:2462:44913:2037,LH00995:25:23T55JLT4:5:2466:47971:19076,LH00995:25:23T55JLT4:6:1108:5886:13359,LH00995:25:23T55JLT4:6:1139:8483:1070,LH00995:25:23T55JLT4:6:1373:17156:22509,LH00995:25:23T55JLT4:6:1378:15352:25325,LH00995:25:23T55JLT4:6:2253:28943:14031,LH00995:25:23T55JLT4:6:2447:39800:24709,LH00995:25:23T55JLT4:6:2466:36070:12840,LH00995:25:23T55JLT4:6:2484:21104:16932,LH00995:25:23T55JLT4:8:1331:39961:1589,LH00995:25:23T55JLT4:8:2180:7836:18950,LH00995:25:23T55JLT4:8:2450:7173:20239,LH00995:25:23T55JLT4:8:2483:5053:8076 | YES_LDAS | GT | 1.6895 | chr15:90102276:- | IDH2^ENSG00000182054.10 | . | I-set-PARTIAL|~249-301|2.8e-13^ig-PARTIAL|~249-298|2.4e-18^Ig_3-PARTIAL|~249-288|1.4e-12^Ig_2-PARTIAL|~249-301|3.5e-10^C2-set_2-PARTIAL|~249-287|1.4e-06^LRR_1|315-322|9.6^C2-set_2|319-345|6e-05^I-set|323-391|4.3e-10^Ig_3|325-382|1.1e-07^ig|326-386|0.0041^Ig_2|327-383|1.9e-05^TrkA_TMD|431-451|7.2e-05^PK_Tyr_Ser-Thr|539-719|1.6e-56^Pkinase|540-708|2.1e-32^Ig_3|737-765|1.9^I-set|744-764|5.7^PK_Tyr_Ser-Thr|753-848|4.5e-37^Pkinase|760-846|6.2e-14 | FRAMESHIFT | AG | 1.8295 | chr15:88184299:- | NTRK3^ENSG00000140538.16 | 0 | . | ONLY_REF_SPLICE | ["INTRACHROMOSOMAL[chr15:1.83Mb]"] | False | chr15:90102276-chr15:88184299 | 47.0 | 0.0 | 47 | 1173_SK8 | STAR-Fusion | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| fp_audit | 659_bdp | fusion | FGFR2--ILRUN | ILRUN--FGFR2 | FGFR2--ILRUN | FP | FP | Arriba | cgp_rna_exp0034 | 659_bdp | altera_exact | 1023 | clinical | patient | Esophageal | Esophageal | 71 | unknown | False | 659_bdp_T1_TRNA_1 | tRNA | altera_exact | ssf | 168.00 | 83.46 | False | cgp_rna_exp0034_lib_s05 | 200.00 | 79.83 | cgp_rna_exp0034 | E01 | False | 659_bdp_T1_TRNA_1_B2372Y3LT4_1 | cgp_rna_exp0034 | 8 | 1.00 | False | nfcore_rnafusion | 659_bdp_T1_TRNA_1_B2372Y3LT4_1 | BND | chr6 | chr10 | ILRUN | FGFR2 | 34606801 | 121488113 | chr6:34606801-chr10:121488113 | -,- | STAR-Fusion | 1 | 0 | 127 | 0.7569 | 127 | FAIL | in-frame | ILRUN--FGFR2 | FGFR2--ILRUN | ["INTERCHROMOSOMAL[chr6--chr10]"] | INCL_NON_REF_SPLICE | YES_LDAS | 1.8892 | False | False | False | GT | AG | 127 | True | Does not meet inclusion criteria | 0 | ENST00000374023.8 | 1-615 | ENST00000369061.8 | 1528-2130 | 0.7569 | FAIL | atggagggcatggacgtagacctggacccggagctgatgcagaagttcagctgcctgggcaccaccgacaaggacgtgctcatctccgagttccagaggctgctcggcttccagctcaatcctgccggttgcgccttcttcctggacatgaccaactggaacctacaagcagcaattggcgcctattatgactttgagagcccaaacatcagtgtgccctctatgtcctttgttgaagatgtcaccataggagaaggggagtcaatacctccggatactcagtttgtaaaaacatggcggatccagaattctggggcagaggcctggcctccaggggtttgtcttaaatatgtcgggggagaccaatttggacatgtgaacatggtgatggtgagatcgctagagccccaagagattgcagatgtcagcgtccagatgtgcagccccagcagagcaggaatgtatcagggacagtggcggatgtgcactgctacaggactctactatggagatgtcatctgggtgattctcagtgtggaggtgggtggacttttaggagtaacgcagcagctgtcatcttttgaaacggagttcaacacacagccgcatcgtaagTGTATTCATCGAGATTTAGCAGCCAGAAATGTTTTGGTAACAGAAAACAATGTGATGAAAATAGCAGACTTTGGACTCGCCAGAGATATCAACAATATAGACTATTACAAAAAGACCACCAATGGGCGGCTTCCAGTCAAGTGGATGGCTCCAGAAGCCCTGTTTGATAGAGTATACACTCATCAGAGTGATGTCTGGTCCTTCGGGGTGTTAATGTGGGAGATCTTCACTTTAGGGGGCTCGCCCTACCCAGGGATTCCCGTGGAGGAACTTTTTAAGCTGCTGAAGGAAGGACACAGAATGGATAAGCCAGCCAACTGCACCAACGAACTGTACATGATGATGAGGGACTGTTGGCATGCAGTGCCCTCCCAGAGACCAACGTTCAAGCAGTTGGTAGAAGACTTGGATCGAATTCTCACTCTCACAACCAATGAGGAATACTTGGACCTCAGCCAACCTCTCGAACAGTATTCACCTAGTTACCCTGACACAAGAAGTTCTTGTTCTTCAGGAGATGATTCTGTTTTTTCTCCAGACCCCATGCCTTACGAACCATGCCTTCCTCAGTATCCACACATAAACGGCAGTGTTAAAACATGA | chr6|-|[2]34606801-34606904[1]|[0]34646601-34646798[1]|[0]34654625-34654779[2]|[1]34696446-34696603[0]<==>chr10|-|[2]121479857-121480021[0]|[2]121483698-121483803[2]|[1]121485395-121485532[2]|[1]121487354-121487424[0]|[2]121487991-121488113[0] | MEGMDVDLDPELMQKFSCLGTTDKDVLISEFQRLLGFQLNPAGCAFFLDMTNWNLQAAIGAYYDFESPNISVPSMSFVEDVTIGEGESIPPDTQFVKTWRIQNSGAEAWPPGVCLKYVGGDQFGHVNMVMVRSLEPQEIADVSVQMCSPSRAGMYQGQWRMCTATGLYYGDVIWVILSVEVGGLLGVTQQLSSFETEFNTQPHRKCIHRDLAARNVLVTENNVMKIADFGLARDINNIDYYKKTTNGRLPVKWMAPEALFDRVYTHQSDVWSFGVLMWEIFTLGGSPYPGIPVEELFKLLKEGHRMDKPANCTNELYMMMRDCWHAVPSQRPTFKQLVEDLDRILTLTTNEEYLDLSQPLEQYSPSYPDTRSSCSSGDDSVFSPDPMPYEPCLPQYPHINGSVKT* | ILRUN--FGFR2 | 127 | LH00166:186:2372Y3LT4:8:1103:13669:26418,LH00166:186:2372Y3LT4:8:1103:8054:28856,LH00166:186:2372Y3LT4:8:1107:13734:11874,LH00166:186:2372Y3LT4:8:1110:45446:25970,LH00166:186:2372Y3LT4:8:1111:36976:15699,LH00166:186:2372Y3LT4:8:1113:26540:11832,LH00166:186:2372Y3LT4:8:1115:51142:19496,LH00166:186:2372Y3LT4:8:1116:42162:8483,LH00166:186:2372Y3LT4:8:1117:46644:19692,LH00166:186:2372Y3LT4:8:1118:31847:2051,LH00166:186:2372Y3LT4:8:1118:51417:4923,LH00166:186:2372Y3LT4:8:1119:36758:9351,LH00166:186:2372Y3LT4:8:1119:9899:4475,LH00166:186:2372Y3LT4:8:1121:33595:2667,LH00166:186:2372Y3LT4:8:1124:3751:23588,LH00166:186:2372Y3LT4:8:1126:3322:9590,LH00166:186:2372Y3LT4:8:1130:5636:20631,LH00166:186:2372Y3LT4:8:1132:45916:12602,LH00166:186:2372Y3LT4:8:1136:18669:7221,LH00166:186:2372Y3LT4:8:1145:11444:22509,LH00166:186:2372Y3LT4:8:1148:48893:1224,LH00166:186:2372Y3LT4:8:1150:45366:8707,LH00166:186:2372Y3LT4:8:1152:25553:26685,LH00166:186:2372Y3LT4:8:1152:46846:8917,LH00166:186:2372Y3LT4:8:1156:20586:7292,LH00166:186:2372Y3LT4:8:1156:2537:16890,LH00166:186:2372Y3LT4:8:1156:33239:7123,LH00166:186:2372Y3LT4:8:1157:43982:14858,LH00166:186:2372Y3LT4:8:1159:36758:11986,LH00166:186:2372Y3LT4:8:1166:29784:4419,LH00166:186:2372Y3LT4:8:1167:26937:13303,LH00166:186:2372Y3LT4:8:1167:30278:16764,LH00166:186:2372Y3LT4:8:1170:13523:26727,LH00166:186:2372Y3LT4:8:1174:25254:10360,LH00166:186:2372Y3LT4:8:1175:9130:6843,LH00166:186:2372Y3LT4:8:1176:16064:21234,LH00166:186:2372Y3LT4:8:1183:1469:3915,LH00166:186:2372Y3LT4:8:1193:3209:23518,LH00166:186:2372Y3LT4:8:1194:48051:2513,LH00166:186:2372Y3LT4:8:1196:38279:6157,LH00166:186:2372Y3LT4:8:1203:15352:2345,LH00166:186:2372Y3LT4:8:1203:16225:4503,LH00166:186:2372Y3LT4:8:1204:10732:14158,LH00166:186:2372Y3LT4:8:1204:39533:17633,LH00166:186:2372Y3LT4:8:1210:48674:29459,LH00166:186:2372Y3LT4:8:1214:23741:19034,LH00166:186:2372Y3LT4:8:1215:24963:17535,LH00166:186:2372Y3LT4:8:1221:9907:17773,LH00166:186:2372Y3LT4:8:1223:7221:9730,LH00166:186:2372Y3LT4:8:1224:15368:24961,LH00166:186:2372Y3LT4:8:1224:17601:9547,LH00166:186:2372Y3LT4:8:1224:36491:17408,LH00166:186:2372Y3LT4:8:1240:30326:8665,LH00166:186:2372Y3LT4:8:1242:32211:20757,LH00166:186:2372Y3LT4:8:1242:44953:14746,LH00166:186:2372Y3LT4:8:1250:45204:27259,LH00166:186:2372Y3LT4:8:1255:4098:23153,LH00166:186:2372Y3LT4:8:1265:3872:25928,LH00166:186:2372Y3LT4:8:1277:12067:11509,LH00166:186:2372Y3LT4:8:1288:36361:10935,LH00166:186:2372Y3LT4:8:1293:30820:21010,LH00166:186:2372Y3LT4:8:1296:1275:3578,LH00166:186:2372Y3LT4:8:1298:27204:29599,LH00166:186:2372Y3LT4:8:1308:28166:25914,LH00166:186:2372Y3LT4:8:1313:17593:17801,LH00166:186:2372Y3LT4:8:1326:40989:15194,LH00166:186:2372Y3LT4:8:1331:6582:28997,LH00166:186:2372Y3LT4:8:1332:51190:17506,LH00166:186:2372Y3LT4:8:1337:19251:17170,LH00166:186:2372Y3LT4:8:1338:9163:10234,LH00166:186:2372Y3LT4:8:1342:32098:22243,LH00166:186:2372Y3LT4:8:1343:8499:23406,LH00166:186:2372Y3LT4:8:1344:24526:25522,LH00166:186:2372Y3LT4:8:1354:28425:18796,LH00166:186:2372Y3LT4:8:1356:17528:9029,LH00166:186:2372Y3LT4:8:1358:21201:24022,LH00166:186:2372Y3LT4:8:1367:12269:11243,LH00166:186:2372Y3LT4:8:1378:32907:14172,LH00166:186:2372Y3LT4:8:1384:37850:21640,LH00166:186:2372Y3LT4:8:1394:29145:27217,LH00166:186:2372Y3LT4:8:1401:23353:18669,LH00166:186:2372Y3LT4:8:1404:10247:16035,LH00166:186:2372Y3LT4:8:1405:20295:24499,LH00166:186:2372Y3LT4:8:1406:16387:4503,LH00166:186:2372Y3LT4:8:1406:4325:1266,LH00166:186:2372Y3LT4:8:1416:20287:23868,LH00166:186:2372Y3LT4:8:1425:1105:24919,LH00166:186:2372Y3LT4:8:1434:13281:15825,LH00166:186:2372Y3LT4:8:1435:11994:20519,LH00166:186:2372Y3LT4:8:1440:37704:25479,LH00166:186:2372Y3LT4:8:1442:7432:1967,LH00166:186:2372Y3LT4:8:1443:7512:11243,LH00166:186:2372Y3LT4:8:1452:49281:11061,LH00166:186:2372Y3LT4:8:1488:13531:4181,LH00166:186:2372Y3LT4:8:1489:39266:23868,LH00166:186:2372Y3LT4:8:1493:42639:13121,LH00166:186:2372Y3LT4:8:2128:13815:2990,LH00166:186:2372Y3LT4:8:2152:28385:2247,LH00166:186:2372Y3LT4:8:2155:18183:10697,LH00166:186:2372Y3LT4:8:2159:33376:20729,LH00166:186:2372Y3LT4:8:2173:25124:21626,LH00166:186:2372Y3LT4:8:2178:24930:3326,LH00166:186:2372Y3LT4:8:2184:45746:4741,LH00166:186:2372Y3LT4:8:2187:21128:3802,LH00166:186:2372Y3LT4:8:2215:30318:3662,LH00166:186:2372Y3LT4:8:2222:30884:2121,LH00166:186:2372Y3LT4:8:2229:46086:13737,LH00166:186:2372Y3LT4:8:2234:41215:7179,LH00166:186:2372Y3LT4:8:2262:40253:28268,LH00166:186:2372Y3LT4:8:2268:43934:16063,LH00166:186:2372Y3LT4:8:2273:22269:25143,LH00166:186:2372Y3LT4:8:2339:12407:1196,LH00166:186:2372Y3LT4:8:2339:28158:16932,LH00166:186:2372Y3LT4:8:2350:33150:28128,LH00166:186:2372Y3LT4:8:2350:41757:20673,LH00166:186:2372Y3LT4:8:2350:48682:9211,LH00166:186:2372Y3LT4:8:2358:24712:24891,LH00166:186:2372Y3LT4:8:2364:31281:29459,LH00166:186:2372Y3LT4:8:2379:23506:6997,LH00166:186:2372Y3LT4:8:2382:23239:5078,LH00166:186:2372Y3LT4:8:2392:22681:9576,LH00166:186:2372Y3LT4:8:2415:11323:27735,LH00166:186:2372Y3LT4:8:2425:48699:11453,LH00166:186:2372Y3LT4:8:2433:2513:3873,LH00166:186:2372Y3LT4:8:2445:1647:26054,LH00166:186:2372Y3LT4:8:2480:41482:3382,LH00166:186:2372Y3LT4:8:2498:10684:7796 | YES_LDAS | GT | 1.9329 | chr6:34606801:- | ILRUN^ENSG00000196821.10 | UBA_4|26-65|2.8e-14^N_BRCA1_IG|82-179|4e-35 | . | INFRAME | AG | 1.8892 | chr10:121488113:- | FGFR2^ENSG00000066468.23 | 0 | . | INCL_NON_REF_SPLICE | ["INTERCHROMOSOMAL[chr6--chr10]"] | False | chr6:34606801-chr10:121488113 | 127.0 | 0.0 | Does not meet inclusion criteria | 127 | 659_bdp | STAR-Fusion | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| fp_audit | 659_bdp | fusion | FGFR2--PLEKHA4 | FGFR2--PLEKHA4 | FGFR2--PLEKHA4 | FP | FP | Arriba | cgp_rna_exp0034 | 659_bdp | altera_exact | 1023 | clinical | patient | Esophageal | Esophageal | 71 | unknown | False | 659_bdp_T1_TRNA_1 | tRNA | altera_exact | ssf | 168.00 | 83.46 | False | cgp_rna_exp0034_lib_s05 | 200.00 | 79.83 | cgp_rna_exp0034 | E01 | False | 659_bdp_T1_TRNA_1_B2372Y3LT4_1 | cgp_rna_exp0034 | 8 | 1.00 | False | nfcore_rnafusion | 659_bdp_T1_TRNA_1_B2372Y3LT4_1 | BND | chr10 | chr19 | FGFR2 | PLEKHA4 | 121496532 | 48867626 | chr10:121496532-chr19:48867626 | -,- | STAR-Fusion | 1 | 0 | 4 | 0.0238 | 4 | FAIL | FGFR2--PLEKHA4 | FGFR2--PLEKHA4 | ["INTERCHROMOSOMAL[chr10--chr19]"] | ONLY_REF_SPLICE | YES_LDAS | 1.8295 | False | False | False | GT | AG | 4 | Read count too low: 4 < 8 | 0 | . | . | . | . | 0.0238 | FAIL | . | . | . | FGFR2--PLEKHA4 | 4 | LH00166:186:2372Y3LT4:8:1304:26532:13527,LH00166:186:2372Y3LT4:8:1488:37591:1771,LH00166:186:2372Y3LT4:8:2284:27503:15741,LH00166:186:2372Y3LT4:8:2330:2634:9856 | YES_LDAS | GT | 1.9329 | chr10:121496532:- | FGFR2^ENSG00000066468.23 | . | . | . | AG | 1.8295 | chr19:48867626:- | PLEKHA4^ENSG00000105559.12 | 0 | . | ONLY_REF_SPLICE | ["INTERCHROMOSOMAL[chr10--chr19]"] | False | chr10:121496532-chr19:48867626 | 4.0 | 0.0 | Read count too low: 4 < 8 | 4 | 659_bdp | STAR-Fusion | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| fp_audit | 659_bdp | fusion | FGFR2--PLEKHA4 | FGFR2--PLEKHA4 | FGFR2--PLEKHA4 | FP | FP | Arriba | cgp_rna_exp0034 | 659_bdp | altera_exact | 1023 | clinical | patient | Esophageal | Esophageal | 71 | unknown | False | 659_bdp_T1_TRNA_1 | tRNA | altera_exact | ssf | 168.00 | 83.46 | False | cgp_rna_exp0034_lib_s05 | 200.00 | 79.83 | cgp_rna_exp0034 | E01 | False | 659_bdp_T1_TRNA_1_B2372Y3LT4_1 | cgp_rna_exp0034 | 8 | 1.00 | False | nfcore_rnafusion | 659_bdp_T1_TRNA_1_B2372Y3LT4_1 | BND | chr10 | chr19 | FGFR2 | PLEKHA4 | 121496532 | 48861692 | chr10:121496532-chr19:48861692 | -,- | STAR-Fusion | 1 | 0 | 1 | 0.006 | 1 | FAIL | in-frame | FGFR2--PLEKHA4 | FGFR2--PLEKHA4 | ["INTERCHROMOSOMAL[chr10--chr19]"] | ONLY_REF_SPLICE | YES_LDAS | 1.8323 | False | False | False | GT | AG | 1 | True | Read count too low: 1 < 8 | 0 | ENST00000369056.5 | 1-1866 | ENST00000263265.11 | 193-2340 | 0.006 | FAIL | atggtcagctggggtcgtttcatctgcctggtcgtggtcaccatggcaaccttgtccctggcccggccctccttcagtttagttgaggataccacattagagccagaagagccaccaaccaaataccaaatctctcaaccagaagtgtacgtggctgcgccaggggagtcgctagaggtgcgctgcctgttgaaagatgccgccgtgatcagttggactaaggatggggtgcacttggggcccaacaataggacagtgcttattggggagtacttgcagataaagggcgccacgcctagagactccggcctctatgcttgtactgccagtaggactgtagacagtgaaacttggtacttcatggtgaatgtcacagatgccatctcatccggagatgatgaggatgacaccgatggtgcggaagattttgtcagtgagaacagtaacaacaagagagcaccatactggaccaacacagaaaagatggaaaagcggctccatgctgtgcctgcggccaacactgtcaagtttcgctgcccagccggggggaacccaatgccaaccatgcggtggctgaaaaacgggaaggagtttaagcaggagcatcgcattggaggctacaaggtacgaaaccagcactggagcctcattatggaaagtgtggtcccatctgacaagggaaattatacctgtgtagtggagaatgaatacgggtccatcaatcacacgtaccacctggatgttgtggagcgatcgcctcaccggcccatcctccaagccggactgccggcaaatgcctccacagtggtcggaggagacgtagagtttgtctgcaaggtttacagtgatgcccagccccacatccagtggatcaagcacgtggaaaagaacggcagtaaatacgggcccgacgggctgccctacctcaaggttctcaagcactcggggataaatagttccaatgcagaagtgctggctctgttcaatgtgaccgaggcggatgctggggaatatatatgtaaggtctccaattatatagggcaggccaaccagtctgcctggctcactgtcctgccaaaacagcaagcgcctggaagagaaaaggagattacagcttccccagactacctggagatagccatttactgcataggggtcttcttaatcgcctgtatggtggtaacagtcatcctgtgccgaatgaagaacacgaccaagaagccagacttcagcagccagccggctgtgcacaagctgaccaaacgtatccccctgcggagacaggtaacagtttcggctgagtccagctcctccatgaactccaacaccccgctggtgaggataacaacacgcctctcttcaacggcagacacccccatgctggcaggggtctccgagtatgaacttccagaggacccaaaatgggagtttccaagagataagctgacactgggcaagcccctgggagaaggttgctttgggcaagtggtcatggcggaagcagtgggaattgacaaagacaagcccaaggaggcggtcaccgtggccgtgaagatgttgaaagatgatgccacagagaaagacctttctgatctggtgtcagagatggagatgatgaagatgattgggaaacacaagaatatcataaatcttcttggagcctgcacacaggatgggcctctctatgtcatagttgagtatgcctctaaaggcaacctccgagaatacctccgagcccggaggccacccgggatggagtactcctatgacattaaccgtgttcctgaggagcagatgaccttcaaggacttggtgtcatgcacctaccagctggccagaggcatggagtacttggcttcccaaaaaGACAGCTCGGGGCTCCGTCTCTGGAAACGCCGCTGGTTCGTCCTCTCCGGCCATTGCCTCTTTTATTACAAGGACAGCCGCGAGGAGAGTGTCCTAGGCAGCGTCCTGCTCCCCAGCTACAATATTAGACCAGATGGGCCGGGAGCCCCCCGAGGGCGGCGCTTCACCTTCACCGCAGAGCACCCGGGCATGAGGACCTACGTTTTGGCCGCTGACACCTTAGAAGACCTGCGGGGCTGGCTACGGGCGCTGGGCCGGGCCTCCCGTGCGGAGGGGGACGACTATGGGCAACCCAGGTCACCTGCACGACCCCAGCCCGGGGAGGGCCCCGGCGGCCCCGGTGGTCCCCCGGAGGTGAGCAGAGGGGAAGAGGGGCGCATCTCAGAATCACCGGAAGTGACTCGACTCTCCAGAGGTCGTGGTAGACCCAGGCTGCTCACTCCCAGCCCCACAACCGACCTCCACTCTGGACTCCAGATGCGGAGGGCGAGGAGCCCCGACCTGTTCACCCCCCTCTCTCGCCCTCCCTCGCCTCTGAGCCTCCCCCGTCCCCGTTCTGCCCCTGCGCGGCGACCCCCTGCCCCCTCAGGAGACACAGCACCCCCTGCCCGACCTCACACCCCGTTGAGTCGCATTGATGTCCGACCTCCTCTGGATTGGGGCCCCCAACGCCAGACCCTCTCCCGACCCCCTACTCCCCGCCGAGGACCTCCCTCTGAGGCTGGGGGAGGAAAGCCCCCCAGGAGTCCCCAGCACTGGAGTCAGGAGCCCAGAACACAGGCACACTCTGGCTCCCCCACTTATCTCCAGCTCCCCCCGCGGCCCCCTGGGACCCGGGCCTCCATGGTTTTATTGCCGGGTCCTCCCCTGGAGTCAACTTTCCACCAAAGCTTGGAGACAGATACGCTGCTGACCAAGTTGTGCGGGCAGGACCGGCTTCTGCGGAGGCTGCAGGAGGAGATAGACCAGAAGCAGGAGGAGAAGGAGCAACTAGAAGCAGCTCTGGAGTTGACCCGGCAACAGCTGGGCCAAGCCACCAGGGAGGCTGGGGCTCCCGGGAGGGCCTGGGGTCGCCAGCGCCTCTTGCAGGACCGGCTGGTCAGTGTGAGGGCCACCCTCTGTCACTTGACTCAGGAGCGAGAGAGGGTTTGGGACACGTACAGTGGCCTGGAGCAGGAGCTGGGCACCTTAAGAGAGACGCTGGAGTACCTGCTGCACCTTGGTTCTCCCCAGGACAGAGTGTCTGCTCAGCAGCAGCTGTGGATGGTGGAAGACACGCTGGCAGGTCTGGGTGGCCCCCAGAAACCGCCCCCACACACTGAGCCTGACTCCCCATCTCCCGTGCTCCAGGGCGAGGAGTCCTCAGAGAGGGAGAGCCTGCCAGAGTCCTTGGAACTGAGCTCCCCTAGGTCCCCCGAGACTGACTGGGGGCGGCCTCCTGGAGGCGACAAAGACCTCGCCAGCCCTCACTTAGGTCTTGGGTCTCCGAGGGTCTCCCGGGCTTCCAGCCCTGAGGGTCGCCACCTCCCTTCCCCACAGCTAGGAACCAAGGCCCCGGTGGCCCGGCCCCGGATGAGTGCCCAGGAGCAGCTGGAGCGGATGCGCAGAAACCAGGAATGTGGACGGCCCTTCCCTCGCCCGACCTCCCCCCGGCTTCTCACCCTGGGAAGGACACTGTCCCCAGCCAGACGCCAGCCTGACGTGGAGCAAAGGCCTGTCGTAGGACACTCGGGAGCCCAGAAATGGCTCAGAAGCTCTGGGTCCTGGAGTAGTCCAAGGAACACCACCCCTTACTTGCCGACTTCCGAAGGTCACCGGGAGCGGGTTCTCAGCCTCTCCCAAGCCCTGGCTACTGAGGCGTCGCAGTGGCACAGAATGATGACAGGTGGAAATTTGGACTCCCAGGGAGACCCTCTTCCCGGTGTGCCGCTGCCTCCTTCGGACCCCACGCGCCAGGAGACCCCTCCCCCCAGATCTCCCCCGGTGGCTAATTCGGGTTCCACGGGGTTCTCTCGCCGAGGGAGTGGGCGTGGAGGAGGTCCCACCCCCTGGGGGCCCGCGTGGGATGCCGGGATCGCCCCTCCGGTCCTGCCACAAGACGAGGGGGCATGGCCTCTGCGAGTCACTCTGCTACAATCCAGCTTCTAA | chr10|-|[2]121496532-121496722[1]|[0]121498495-121498605[1]|[0]121500826-121500947[2]|[1]121503790-121503941[0]|[2]121515117-121515319[1]|[0]121518682-121518829[0]|[2]121519979-121520169[1]|[0]121538592-121538715[0]|[2]121551290-121551459[1]|[0]121564502-121564579[1]|[0]121565438-121565704[1]|[0]121593709-121593817[0]<==>chr19|-|[2]48837289-48837551[1]|[0]48838017-48838129[2]|[1]48839205-48839263[0]|[2]48841149-48841310[0]|[2]48845370-48845446[1]|[0]48845517-48845616[0]|[2]48847900-48848040[0]|[2]48852228-48852326[0]|[2]48853682-48853831[0]|[2]48854007-48854087[0]|[2]48854217-48854264[0]|[2]48857422-48857496[0]|[2]48858860-48859139[2]|[1]48859469-48859684[2]|[1]48860350-48860459[0]|[2]48861401-48861501[1]|[0]48861620-48861692[0] | MVSWGRFICLVVVTMATLSLARPSFSLVEDTTLEPEEPPTKYQISQPEVYVAAPGESLEVRCLLKDAAVISWTKDGVHLGPNNRTVLIGEYLQIKGATPRDSGLYACTASRTVDSETWYFMVNVTDAISSGDDEDDTDGAEDFVSENSNNKRAPYWTNTEKMEKRLHAVPAANTVKFRCPAGGNPMPTMRWLKNGKEFKQEHRIGGYKVRNQHWSLIMESVVPSDKGNYTCVVENEYGSINHTYHLDVVERSPHRPILQAGLPANASTVVGGDVEFVCKVYSDAQPHIQWIKHVEKNGSKYGPDGLPYLKVLKHSGINSSNAEVLALFNVTEADAGEYICKVSNYIGQANQSAWLTVLPKQQAPGREKEITASPDYLEIAIYCIGVFLIACMVVTVILCRMKNTTKKPDFSSQPAVHKLTKRIPLRRQVTVSAESSSSMNSNTPLVRITTRLSSTADTPMLAGVSEYELPEDPKWEFPRDKLTLGKPLGEGCFGQVVMAEAVGIDKDKPKEAVTVAVKMLKDDATEKDLSDLVSEMEMMKMIGKHKNIINLLGACTQDGPLYVIVEYASKGNLREYLRARRPPGMEYSYDINRVPEEQMTFKDLVSCTYQLARGMEYLASQKDSSGLRLWKRRWFVLSGHCLFYYKDSREESVLGSVLLPSYNIRPDGPGAPRGRRFTFTAEHPGMRTYVLAADTLEDLRGWLRALGRASRAEGDDYGQPRSPARPQPGEGPGGPGGPPEVSRGEEGRISESPEVTRLSRGRGRPRLLTPSPTTDLHSGLQMRRARSPDLFTPLSRPPSPLSLPRPRSAPARRPPAPSGDTAPPARPHTPLSRIDVRPPLDWGPQRQTLSRPPTPRRGPPSEAGGGKPPRSPQHWSQEPRTQAHSGSPTYLQLPPRPPGTRASMVLLPGPPLESTFHQSLETDTLLTKLCGQDRLLRRLQEEIDQKQEEKEQLEAALELTRQQLGQATREAGAPGRAWGRQRLLQDRLVSVRATLCHLTQERERVWDTYSGLEQELGTLRETLEYLLHLGSPQDRVSAQQQLWMVEDTLAGLGGPQKPPPHTEPDSPSPVLQGEESSERESLPESLELSSPRSPETDWGRPPGGDKDLASPHLGLGSPRVSRASSPEGRHLPSPQLGTKAPVARPRMSAQEQLERMRRNQECGRPFPRPTSPRLLTLGRTLSPARRQPDVEQRPVVGHSGAQKWLRSSGSWSSPRNTTPYLPTSEGHRERVLSLSQALATEASQWHRMMTGGNLDSQGDPLPGVPLPPSDPTRQETPPPRSPPVANSGSTGFSRRGSGRGGGPTPWGPAWDAGIAPPVLPQDEGAWPLRVTLLQSSF* | FGFR2--PLEKHA4 | 1 | LH00166:186:2372Y3LT4:8:2212:47129:9183 | YES_LDAS | GT | 1.9329 | chr10:121496532:- | FGFR2^ENSG00000066468.23 | FGFR3_TM|7-13|5.6^C2-set_2|44-79|0.23^Ig_3|45-110|6.4e-10^I-set|46-121|6.5e-08^Ig_2|46-113|1e-07^V-set|47-75|0.87^ig|49-119|3e-06^Ig_5|51-120|9.7e-05^Ig_4|57-113|0.0016^Ig_6|83-110|0.004^Herpes_gE|90-125|0.034^V-set|92-119|0.0026^ig|164-239|4.1e-12^Ig_3|167-235|2.7e-15^Ig_2|169-239|3.3e-13^I-set|172-248|2.1e-17^Ig_5|173-243|0.0056^C2-set_2|173-202|0.00036^Ig_4|188-235|0.072^V-set|193-248|1.5e-07^V-set_CD47|215-248|0.0012^Ig_6|219-236|0.04^C2-set_2|228-248|4.4^I-set|264-357|3.1e-13^Ig_3|266-344|2.2e-12^Ig_2|266-353|4.2e-07^V-set|267-358|3.1e-06^ig|269-350|1.3e-08^Ig_5|271-346|0.023^C2-set_2|281-295|0.85^Ig_4|315-353|0.22^Herpes_gE|319-406|0.001^V-set_CD47|326-345|0.3^Ig_6|330-363|0.0011^FGFR3_TM|372-402|4e-19^Pkinase|379-420|3.6^C2-set_2|431-453|6.2^PK_Tyr_Ser-Thr|482-758|1.2e-107^Pkinase|485-756|5.8e-48^Kinase-like|509-535|2.2^Herpes_gE|514-564|2.4^Pkinase_fungal|601-690|0.00016^Kinase-like|607-700|0.00013 | DHR10|354-411|1.2e-05^FUSC|366-460|0.0037^DHR10|430-465|1.8^DHR10|590-603|0.3 | INFRAME | AG | 1.8323 | chr19:48861692:- | PLEKHA4^ENSG00000105559.12 | 0 | . | ONLY_REF_SPLICE | ["INTERCHROMOSOMAL[chr10--chr19]"] | False | chr10:121496532-chr19:48861692 | 1.0 | 0.0 | Read count too low: 1 < 8 | 1 | 659_bdp | STAR-Fusion | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| fp_audit | 659_bdp | fusion | FGFR2--TULP2 | FGFR2--TULP2 | FGFR2--TULP2 | FP | FP | Arriba; STAR-Fusion | cgp_rna_exp0034 | 659_bdp | altera_exact | 1023 | clinical | patient | Esophageal | Esophageal | 71 | unknown | False | 659_bdp_T1_TRNA_1 | tRNA | altera_exact | ssf | 168.00 | 83.46 | False | cgp_rna_exp0034_lib_s05 | 200.00 | 79.83 | cgp_rna_exp0034 | E01 | False | 659_bdp_T1_TRNA_1_B2372Y3LT4_1 | cgp_rna_exp0034 | 8 | 1.00 | False | nfcore_rnafusion | 659_bdp_T1_TRNA_1_B2372Y3LT4_1 | BND | chr10 | chr19 | FGFR2 | TULP2 | 121496532 | 48885560 | chr10:121496532-chr19:48885560 | -,- | STAR-Fusion | 1 | 0 | 14 | 0.0834 | 14 | PASS | in-frame | FGFR2--TULP2 | FGFR2--TULP2 | ["INTERCHROMOSOMAL[chr10--chr19]"] | ONLY_REF_SPLICE | YES_LDAS | 1.5058 | False | False | False | GT | AG | 14 | True | 1 | ENST00000369056.5 | 1-1866 | ENST00000221399.8 | 949-1563 | 0.0834 | PASS | atggtcagctggggtcgtttcatctgcctggtcgtggtcaccatggcaaccttgtccctggcccggccctccttcagtttagttgaggataccacattagagccagaagagccaccaaccaaataccaaatctctcaaccagaagtgtacgtggctgcgccaggggagtcgctagaggtgcgctgcctgttgaaagatgccgccgtgatcagttggactaaggatggggtgcacttggggcccaacaataggacagtgcttattggggagtacttgcagataaagggcgccacgcctagagactccggcctctatgcttgtactgccagtaggactgtagacagtgaaacttggtacttcatggtgaatgtcacagatgccatctcatccggagatgatgaggatgacaccgatggtgcggaagattttgtcagtgagaacagtaacaacaagagagcaccatactggaccaacacagaaaagatggaaaagcggctccatgctgtgcctgcggccaacactgtcaagtttcgctgcccagccggggggaacccaatgccaaccatgcggtggctgaaaaacgggaaggagtttaagcaggagcatcgcattggaggctacaaggtacgaaaccagcactggagcctcattatggaaagtgtggtcccatctgacaagggaaattatacctgtgtagtggagaatgaatacgggtccatcaatcacacgtaccacctggatgttgtggagcgatcgcctcaccggcccatcctccaagccggactgccggcaaatgcctccacagtggtcggaggagacgtagagtttgtctgcaaggtttacagtgatgcccagccccacatccagtggatcaagcacgtggaaaagaacggcagtaaatacgggcccgacgggctgccctacctcaaggttctcaagcactcggggataaatagttccaatgcagaagtgctggctctgttcaatgtgaccgaggcggatgctggggaatatatatgtaaggtctccaattatatagggcaggccaaccagtctgcctggctcactgtcctgccaaaacagcaagcgcctggaagagaaaaggagattacagcttccccagactacctggagatagccatttactgcataggggtcttcttaatcgcctgtatggtggtaacagtcatcctgtgccgaatgaagaacacgaccaagaagccagacttcagcagccagccggctgtgcacaagctgaccaaacgtatccccctgcggagacaggtaacagtttcggctgagtccagctcctccatgaactccaacaccccgctggtgaggataacaacacgcctctcttcaacggcagacacccccatgctggcaggggtctccgagtatgaacttccagaggacccaaaatgggagtttccaagagataagctgacactgggcaagcccctgggagaaggttgctttgggcaagtggtcatggcggaagcagtgggaattgacaaagacaagcccaaggaggcggtcaccgtggccgtgaagatgttgaaagatgatgccacagagaaagacctttctgatctggtgtcagagatggagatgatgaagatgattgggaaacacaagaatatcataaatcttcttggagcctgcacacaggatgggcctctctatgtcatagttgagtatgcctctaaaggcaacctccgagaatacctccgagcccggaggccacccgggatggagtactcctatgacattaaccgtgttcctgaggagcagatgaccttcaaggacttggtgtcatgcacctaccagctggccagaggcatggagtacttggcttcccaaaaaCGCTTCCTCCTGGCTGGGCGAAAGAGAAGAAGGAGCAAAACTTCTAATTACCTCATCTCCCTGGATCCTACACACCTATCTCGGGACGGGGACAATTTCGTGGGCAAAGTCAGATCCAATGTCTTCAGCACCAAGTTCACCATCTTTGACAATGGGGTGAATCCTGACCGGGAGCATTTAACCAGGAATACTGCCCGGATCAGACAGGAGCTGGGGGCTGTGTGTTATGAGCCCAACGTCTTAGGATACCTGGGGCCTCGGAAAATGACTGTGATTCTCCCAGGAACCAACAGCCAGAACCAGCGAATCAATGTCCAGCCACTAAATGAACAGGAGTCGCTACTGAGTCGTTACCAACGTGGGGACAAACAAGGGTTGCTTTTGTTGCACAACAAAACCCCGTCGTGGGACAAGGAGAACGGTGTCTACACGCTCAATTTCCATGGTCGAGTCACTCGGGCTTCGGTGAAGAACTTCCAAATCGTGGATCCCAAACACCAAGAACATCTGGTGCTCCAGTTCGGCCGAGTGGGCCCAGACACATTCACCATGGACTTCTGCTTTCCATTTAGCCCGCTCCAGGCCTTCAGCATCTGCTTGTCCAGTTTCAATTAG | chr10|-|[2]121496532-121496722[1]|[0]121498495-121498605[1]|[0]121500826-121500947[2]|[1]121503790-121503941[0]|[2]121515117-121515319[1]|[0]121518682-121518829[0]|[2]121519979-121520169[1]|[0]121538592-121538715[0]|[2]121551290-121551459[1]|[0]121564502-121564579[1]|[0]121565438-121565704[1]|[0]121593709-121593817[0]<==>chr19|-|[2]48881011-48881126[1]|[0]48882032-48882203[0]|[2]48883754-48883852[0]|[2]48883932-48884046[2]|[1]48885448-48885560[0] | MVSWGRFICLVVVTMATLSLARPSFSLVEDTTLEPEEPPTKYQISQPEVYVAAPGESLEVRCLLKDAAVISWTKDGVHLGPNNRTVLIGEYLQIKGATPRDSGLYACTASRTVDSETWYFMVNVTDAISSGDDEDDTDGAEDFVSENSNNKRAPYWTNTEKMEKRLHAVPAANTVKFRCPAGGNPMPTMRWLKNGKEFKQEHRIGGYKVRNQHWSLIMESVVPSDKGNYTCVVENEYGSINHTYHLDVVERSPHRPILQAGLPANASTVVGGDVEFVCKVYSDAQPHIQWIKHVEKNGSKYGPDGLPYLKVLKHSGINSSNAEVLALFNVTEADAGEYICKVSNYIGQANQSAWLTVLPKQQAPGREKEITASPDYLEIAIYCIGVFLIACMVVTVILCRMKNTTKKPDFSSQPAVHKLTKRIPLRRQVTVSAESSSSMNSNTPLVRITTRLSSTADTPMLAGVSEYELPEDPKWEFPRDKLTLGKPLGEGCFGQVVMAEAVGIDKDKPKEAVTVAVKMLKDDATEKDLSDLVSEMEMMKMIGKHKNIINLLGACTQDGPLYVIVEYASKGNLREYLRARRPPGMEYSYDINRVPEEQMTFKDLVSCTYQLARGMEYLASQKRFLLAGRKRRRSKTSNYLISLDPTHLSRDGDNFVGKVRSNVFSTKFTIFDNGVNPDREHLTRNTARIRQELGAVCYEPNVLGYLGPRKMTVILPGTNSQNQRINVQPLNEQESLLSRYQRGDKQGLLLLHNKTPSWDKENGVYTLNFHGRVTRASVKNFQIVDPKHQEHLVLQFGRVGPDTFTMDFCFPFSPLQAFSICLSSFN* | FGFR2--TULP2 | 14 | LH00166:186:2372Y3LT4:8:1127:37987:20365,LH00166:186:2372Y3LT4:8:1141:18013:5274,LH00166:186:2372Y3LT4:8:1206:11978:12392,LH00166:186:2372Y3LT4:8:1235:35504:7376,LH00166:186:2372Y3LT4:8:1315:22212:5568,LH00166:186:2372Y3LT4:8:1374:8232:21262,LH00166:186:2372Y3LT4:8:1484:17593:7684,LH00166:186:2372Y3LT4:8:2205:20853:7530,LH00166:186:2372Y3LT4:8:2211:4592:24064,LH00166:186:2372Y3LT4:8:2244:17131:1196,LH00166:186:2372Y3LT4:8:2250:30245:17941,LH00166:186:2372Y3LT4:8:2281:33611:8553,LH00166:186:2372Y3LT4:8:2349:37615:3186,LH00166:186:2372Y3LT4:8:2417:41345:12700 | YES_LDAS | GT | 1.9329 | chr10:121496532:- | FGFR2^ENSG00000066468.23 | FGFR3_TM|7-13|5.6^C2-set_2|44-79|0.23^Ig_3|45-110|6.4e-10^I-set|46-121|6.5e-08^Ig_2|46-113|1e-07^V-set|47-75|0.87^ig|49-119|3e-06^Ig_5|51-120|9.7e-05^Ig_4|57-113|0.0016^Ig_6|83-110|0.004^Herpes_gE|90-125|0.034^V-set|92-119|0.0026^ig|164-239|4.1e-12^Ig_3|167-235|2.7e-15^Ig_2|169-239|3.3e-13^I-set|172-248|2.1e-17^Ig_5|173-243|0.0056^C2-set_2|173-202|0.00036^Ig_4|188-235|0.072^V-set|193-248|1.5e-07^V-set_CD47|215-248|0.0012^Ig_6|219-236|0.04^C2-set_2|228-248|4.4^I-set|264-357|3.1e-13^Ig_3|266-344|2.2e-12^Ig_2|266-353|4.2e-07^V-set|267-358|3.1e-06^ig|269-350|1.3e-08^Ig_5|271-346|0.023^C2-set_2|281-295|0.85^Ig_4|315-353|0.22^Herpes_gE|319-406|0.001^V-set_CD47|326-345|0.3^Ig_6|330-363|0.0011^FGFR3_TM|372-402|4e-19^Pkinase|379-420|3.6^C2-set_2|431-453|6.2^PK_Tyr_Ser-Thr|482-758|1.2e-107^Pkinase|485-756|5.8e-48^Kinase-like|509-535|2.2^Herpes_gE|514-564|2.4^Pkinase_fungal|601-690|0.00016^Kinase-like|607-700|0.00013 | . | INFRAME | AG | 1.5058 | chr19:48885560:- | TULP2^ENSG00000104804.8 | 0 | . | ONLY_REF_SPLICE | ["INTERCHROMOSOMAL[chr10--chr19]"] | False | chr10:121496532-chr19:48885560 | 14.0 | 0.0 | 14 | 659_bdp | STAR-Fusion | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| fp_audit | 659_bdp | fusion | FGFR2--TULP2 | FGFR2--TULP2 | FGFR2--TULP2 | FP | FP | Arriba; STAR-Fusion | cgp_rna_exp0034 | 659_bdp | altera_exact | 1023 | clinical | patient | Esophageal | Esophageal | 71 | unknown | False | 659_bdp_T1_TRNA_1 | tRNA | altera_exact | ssf | 168.00 | 83.46 | False | cgp_rna_exp0034_lib_s05 | 200.00 | 79.83 | cgp_rna_exp0034 | E01 | False | 659_bdp_T1_TRNA_1_B2372Y3LT4_1 | cgp_rna_exp0034 | 8 | 1.00 | False | nfcore_rnafusion | 659_bdp_T1_TRNA_1_B2372Y3LT4_1 | BND | chr10 | chr19 | FGFR2 | TULP2 | 121496532 | 48882203 | chr10:121496532-chr19:48882203 | -,- | STAR-Fusion | 1 | 0 | 5 | 0.0298 | 5 | FAIL | in-frame | FGFR2--TULP2 | FGFR2--TULP2 | ["INTERCHROMOSOMAL[chr10--chr19]"] | ONLY_REF_SPLICE | YES_LDAS | 1.9086 | False | False | False | GT | AG | 5 | True | Read count too low: 5 < 8 | 0 | ENST00000369056.5 | 1-1866 | ENST00000221399.8 | 1276-1563 | 0.0298 | FAIL | atggtcagctggggtcgtttcatctgcctggtcgtggtcaccatggcaaccttgtccctggcccggccctccttcagtttagttgaggataccacattagagccagaagagccaccaaccaaataccaaatctctcaaccagaagtgtacgtggctgcgccaggggagtcgctagaggtgcgctgcctgttgaaagatgccgccgtgatcagttggactaaggatggggtgcacttggggcccaacaataggacagtgcttattggggagtacttgcagataaagggcgccacgcctagagactccggcctctatgcttgtactgccagtaggactgtagacagtgaaacttggtacttcatggtgaatgtcacagatgccatctcatccggagatgatgaggatgacaccgatggtgcggaagattttgtcagtgagaacagtaacaacaagagagcaccatactggaccaacacagaaaagatggaaaagcggctccatgctgtgcctgcggccaacactgtcaagtttcgctgcccagccggggggaacccaatgccaaccatgcggtggctgaaaaacgggaaggagtttaagcaggagcatcgcattggaggctacaaggtacgaaaccagcactggagcctcattatggaaagtgtggtcccatctgacaagggaaattatacctgtgtagtggagaatgaatacgggtccatcaatcacacgtaccacctggatgttgtggagcgatcgcctcaccggcccatcctccaagccggactgccggcaaatgcctccacagtggtcggaggagacgtagagtttgtctgcaaggtttacagtgatgcccagccccacatccagtggatcaagcacgtggaaaagaacggcagtaaatacgggcccgacgggctgccctacctcaaggttctcaagcactcggggataaatagttccaatgcagaagtgctggctctgttcaatgtgaccgaggcggatgctggggaatatatatgtaaggtctccaattatatagggcaggccaaccagtctgcctggctcactgtcctgccaaaacagcaagcgcctggaagagaaaaggagattacagcttccccagactacctggagatagccatttactgcataggggtcttcttaatcgcctgtatggtggtaacagtcatcctgtgccgaatgaagaacacgaccaagaagccagacttcagcagccagccggctgtgcacaagctgaccaaacgtatccccctgcggagacaggtaacagtttcggctgagtccagctcctccatgaactccaacaccccgctggtgaggataacaacacgcctctcttcaacggcagacacccccatgctggcaggggtctccgagtatgaacttccagaggacccaaaatgggagtttccaagagataagctgacactgggcaagcccctgggagaaggttgctttgggcaagtggtcatggcggaagcagtgggaattgacaaagacaagcccaaggaggcggtcaccgtggccgtgaagatgttgaaagatgatgccacagagaaagacctttctgatctggtgtcagagatggagatgatgaagatgattgggaaacacaagaatatcataaatcttcttggagcctgcacacaggatgggcctctctatgtcatagttgagtatgcctctaaaggcaacctccgagaatacctccgagcccggaggccacccgggatggagtactcctatgacattaaccgtgttcctgaggagcagatgaccttcaaggacttggtgtcatgcacctaccagctggccagaggcatggagtacttggcttcccaaaaaGAACAGGAGTCGCTACTGAGTCGTTACCAACGTGGGGACAAACAAGGGTTGCTTTTGTTGCACAACAAAACCCCGTCGTGGGACAAGGAGAACGGTGTCTACACGCTCAATTTCCATGGTCGAGTCACTCGGGCTTCGGTGAAGAACTTCCAAATCGTGGATCCCAAACACCAAGAACATCTGGTGCTCCAGTTCGGCCGAGTGGGCCCAGACACATTCACCATGGACTTCTGCTTTCCATTTAGCCCGCTCCAGGCCTTCAGCATCTGCTTGTCCAGTTTCAATTAG | chr10|-|[2]121496532-121496722[1]|[0]121498495-121498605[1]|[0]121500826-121500947[2]|[1]121503790-121503941[0]|[2]121515117-121515319[1]|[0]121518682-121518829[0]|[2]121519979-121520169[1]|[0]121538592-121538715[0]|[2]121551290-121551459[1]|[0]121564502-121564579[1]|[0]121565438-121565704[1]|[0]121593709-121593817[0]<==>chr19|-|[2]48881011-48881126[1]|[0]48882032-48882203[0] | MVSWGRFICLVVVTMATLSLARPSFSLVEDTTLEPEEPPTKYQISQPEVYVAAPGESLEVRCLLKDAAVISWTKDGVHLGPNNRTVLIGEYLQIKGATPRDSGLYACTASRTVDSETWYFMVNVTDAISSGDDEDDTDGAEDFVSENSNNKRAPYWTNTEKMEKRLHAVPAANTVKFRCPAGGNPMPTMRWLKNGKEFKQEHRIGGYKVRNQHWSLIMESVVPSDKGNYTCVVENEYGSINHTYHLDVVERSPHRPILQAGLPANASTVVGGDVEFVCKVYSDAQPHIQWIKHVEKNGSKYGPDGLPYLKVLKHSGINSSNAEVLALFNVTEADAGEYICKVSNYIGQANQSAWLTVLPKQQAPGREKEITASPDYLEIAIYCIGVFLIACMVVTVILCRMKNTTKKPDFSSQPAVHKLTKRIPLRRQVTVSAESSSSMNSNTPLVRITTRLSSTADTPMLAGVSEYELPEDPKWEFPRDKLTLGKPLGEGCFGQVVMAEAVGIDKDKPKEAVTVAVKMLKDDATEKDLSDLVSEMEMMKMIGKHKNIINLLGACTQDGPLYVIVEYASKGNLREYLRARRPPGMEYSYDINRVPEEQMTFKDLVSCTYQLARGMEYLASQKEQESLLSRYQRGDKQGLLLLHNKTPSWDKENGVYTLNFHGRVTRASVKNFQIVDPKHQEHLVLQFGRVGPDTFTMDFCFPFSPLQAFSICLSSFN* | FGFR2--TULP2 | 5 | LH00166:186:2372Y3LT4:8:1107:20214:5834,LH00166:186:2372Y3LT4:8:1162:32260:7614,LH00166:186:2372Y3LT4:8:1246:12067:2037,LH00166:186:2372Y3LT4:8:1297:13984:2079,LH00166:186:2372Y3LT4:8:1387:9268:19720 | YES_LDAS | GT | 1.9329 | chr10:121496532:- | FGFR2^ENSG00000066468.23 | FGFR3_TM|7-13|5.6^C2-set_2|44-79|0.23^Ig_3|45-110|6.4e-10^I-set|46-121|6.5e-08^Ig_2|46-113|1e-07^V-set|47-75|0.87^ig|49-119|3e-06^Ig_5|51-120|9.7e-05^Ig_4|57-113|0.0016^Ig_6|83-110|0.004^Herpes_gE|90-125|0.034^V-set|92-119|0.0026^ig|164-239|4.1e-12^Ig_3|167-235|2.7e-15^Ig_2|169-239|3.3e-13^I-set|172-248|2.1e-17^Ig_5|173-243|0.0056^C2-set_2|173-202|0.00036^Ig_4|188-235|0.072^V-set|193-248|1.5e-07^V-set_CD47|215-248|0.0012^Ig_6|219-236|0.04^C2-set_2|228-248|4.4^I-set|264-357|3.1e-13^Ig_3|266-344|2.2e-12^Ig_2|266-353|4.2e-07^V-set|267-358|3.1e-06^ig|269-350|1.3e-08^Ig_5|271-346|0.023^C2-set_2|281-295|0.85^Ig_4|315-353|0.22^Herpes_gE|319-406|0.001^V-set_CD47|326-345|0.3^Ig_6|330-363|0.0011^FGFR3_TM|372-402|4e-19^Pkinase|379-420|3.6^C2-set_2|431-453|6.2^PK_Tyr_Ser-Thr|482-758|1.2e-107^Pkinase|485-756|5.8e-48^Kinase-like|509-535|2.2^Herpes_gE|514-564|2.4^Pkinase_fungal|601-690|0.00016^Kinase-like|607-700|0.00013 | . | INFRAME | AG | 1.9086 | chr19:48882203:- | TULP2^ENSG00000104804.8 | 0 | . | ONLY_REF_SPLICE | ["INTERCHROMOSOMAL[chr10--chr19]"] | False | chr10:121496532-chr19:48882203 | 5.0 | 0.0 | Read count too low: 5 < 8 | 5 | 659_bdp | STAR-Fusion | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| fp_audit | 659_bdp | fusion | IQGAP1--PPARG | IQGAP1--PPARG | IQGAP1--PPARG | FP | FP | Arriba; STAR-Fusion | cgp_rna_exp0034 | 659_bdp | altera_exact | 1023 | clinical | patient | Esophageal | Esophageal | 71 | unknown | False | 659_bdp_T1_TRNA_1 | tRNA | altera_exact | ssf | 168.00 | 83.46 | False | cgp_rna_exp0034_lib_s05 | 200.00 | 79.83 | cgp_rna_exp0034 | E01 | False | 659_bdp_T1_TRNA_1_B2372Y3LT4_1 | cgp_rna_exp0034 | 8 | 1.00 | False | nfcore_rnafusion | 659_bdp_T1_TRNA_1_B2372Y3LT4_1 | BND | chr15 | chr3 | IQGAP1 | PPARG | 90390873 | 12312380 | chr15:90390873-chr3:12312380 | +,+ | STAR-Fusion | 1 | 1 | 264 | 1.5794 | 265 | PASS | IQGAP1--PPARG | IQGAP1--PPARG | ["INTERCHROMOSOMAL[chr15--chr3]"] | ONLY_REF_SPLICE | YES_LDAS | 1.2867 | False | False | False | GT | AG | 264 | 1 | . | . | . | . | 1.5794 | PASS | . | . | . | IQGAP1--PPARG | 264 | LH00166:186:2372Y3LT4:8:1101:23167:12882,LH00166:186:2372Y3LT4:8:1102:37494:28814,LH00166:186:2372Y3LT4:8:1103:49718:27539,LH00166:186:2372Y3LT4:8:1105:11201:20883,LH00166:186:2372Y3LT4:8:1109:16856:18543,LH00166:186:2372Y3LT4:8:1111:21848:1434,LH00166:186:2372Y3LT4:8:1111:31362:23069,LH00166:186:2372Y3LT4:8:1112:25982:10276,LH00166:186:2372Y3LT4:8:1112:44387:26881,LH00166:186:2372Y3LT4:8:1113:15805:9576,LH00166:186:2372Y3LT4:8:1114:14041:19328,LH00166:186:2372Y3LT4:8:1114:24323:27834,LH00166:186:2372Y3LT4:8:1118:36175:24849,LH00166:186:2372Y3LT4:8:1122:34565:9393,LH00166:186:2372Y3LT4:8:1123:37429:3004,LH00166:186:2372Y3LT4:8:1128:12771:23209,LH00166:186:2372Y3LT4:8:1137:9802:22215,LH00166:186:2372Y3LT4:8:1139:19380:23616,LH00166:186:2372Y3LT4:8:1143:15077:22495,LH00166:186:2372Y3LT4:8:1145:14793:14774,LH00166:186:2372Y3LT4:8:1148:14575:2317,LH00166:186:2372Y3LT4:8:1148:5005:23798,LH00166:186:2372Y3LT4:8:1148:8847:8370,LH00166:186:2372Y3LT4:8:1149:27527:11467,LH00166:186:2372Y3LT4:8:1150:5733:2527,LH00166:186:2372Y3LT4:8:1151:44071:8623,LH00166:186:2372Y3LT4:8:1155:8330:14844,LH00166:186:2372Y3LT4:8:1159:27446:10262,LH00166:186:2372Y3LT4:8:1160:32988:4951,LH00166:186:2372Y3LT4:8:1160:45455:18726,LH00166:186:2372Y3LT4:8:1163:10918:24653,LH00166:186:2372Y3LT4:8:1164:51571:4209,LH00166:186:2372Y3LT4:8:1166:14251:5148,LH00166:186:2372Y3LT4:8:1166:22366:23097,LH00166:186:2372Y3LT4:8:1173:5417:28212,LH00166:186:2372Y3LT4:8:1175:15724:13779,LH00166:186:2372Y3LT4:8:1175:33886:27105,LH00166:186:2372Y3LT4:8:1175:49079:28674,LH00166:186:2372Y3LT4:8:1179:21945:26572,LH00166:186:2372Y3LT4:8:1182:48472:14256,LH00166:186:2372Y3LT4:8:1184:19874:21444,LH00166:186:2372Y3LT4:8:1186:43068:23616,LH00166:186:2372Y3LT4:8:1188:21160:4895,LH00166:186:2372Y3LT4:8:1193:1607:8833,LH00166:186:2372Y3LT4:8:1194:14963:6241,LH00166:186:2372Y3LT4:8:1196:22625:15671,LH00166:186:2372Y3LT4:8:1198:30739:9716,LH00166:186:2372Y3LT4:8:1202:23401:18417,LH00166:186:2372Y3LT4:8:1203:21816:18698,LH00166:186:2372Y3LT4:8:1206:15093:27343,LH00166:186:2372Y3LT4:8:1207:9308:11719,LH00166:186:2372Y3LT4:8:1212:32066:14816,LH00166:186:2372Y3LT4:8:1212:44824:16063,LH00166:186:2372Y3LT4:8:1214:5328:27890,LH00166:186:2372Y3LT4:8:1216:25003:22425,LH00166:186:2372Y3LT4:8:1217:43570:4783,LH00166:186:2372Y3LT4:8:1227:22350:11271,LH00166:186:2372Y3LT4:8:1229:2400:3873,LH00166:186:2372Y3LT4:8:1231:50770:7418,LH00166:186:2372Y3LT4:8:1232:9228:3060,LH00166:186:2372Y3LT4:8:1233:43481:28618,LH00166:186:2372Y3LT4:8:1235:30529:6269,LH00166:186:2372Y3LT4:8:1236:40406:8104,LH00166:186:2372Y3LT4:8:1242:26160:6521,LH00166:186:2372Y3LT4:8:1245:49297:29053,LH00166:186:2372Y3LT4:8:1247:45689:5204,LH00166:186:2372Y3LT4:8:1249:27066:4643,LH00166:186:2372Y3LT4:8:1250:34509:1252,LH00166:186:2372Y3LT4:8:1251:31281:21500,LH00166:186:2372Y3LT4:8:1253:19235:19636,LH00166:186:2372Y3LT4:8:1253:23045:26713,LH00166:186:2372Y3LT4:8:1256:17908:15965,LH00166:186:2372Y3LT4:8:1256:22519:6381,LH00166:186:2372Y3LT4:8:1259:38610:5302,LH00166:186:2372Y3LT4:8:1259:9341:28898,LH00166:186:2372Y3LT4:8:1260:34622:13303,LH00166:186:2372Y3LT4:8:1262:16193:29081,LH00166:186:2372Y3LT4:8:1267:42979:4153,LH00166:186:2372Y3LT4:8:1270:13378:23420,LH00166:186:2372Y3LT4:8:1271:12747:15685,LH00166:186:2372Y3LT4:8:1272:35051:7151,LH00166:186:2372Y3LT4:8:1277:51603:25479,LH00166:186:2372Y3LT4:8:1290:47437:14956,LH00166:186:2372Y3LT4:8:1295:13515:10907,LH00166:186:2372Y3LT4:8:1295:28716:15180,LH00166:186:2372Y3LT4:8:1296:36200:13821,LH00166:186:2372Y3LT4:8:1297:30925:15783,LH00166:186:2372Y3LT4:8:1306:30561:22775,LH00166:186:2372Y3LT4:8:1307:25432:8959,LH00166:186:2372Y3LT4:8:1309:29242:2724,LH00166:186:2372Y3LT4:8:1314:11485:14760,LH00166:186:2372Y3LT4:8:1315:28158:16764,LH00166:186:2372Y3LT4:8:1315:39622:6717,LH00166:186:2372Y3LT4:8:1320:10926:29571,LH00166:186:2372Y3LT4:8:1320:25586:23041,LH00166:186:2372Y3LT4:8:1321:37874:7558,LH00166:186:2372Y3LT4:8:1324:48674:4573,LH00166:186:2372Y3LT4:8:1331:7626:29263,LH00166:186:2372Y3LT4:8:1334:11169:21920,LH00166:186:2372Y3LT4:8:1339:43877:4307,LH00166:186:2372Y3LT4:8:1349:33845:4475,LH00166:186:2372Y3LT4:8:1350:40471:26572,LH00166:186:2372Y3LT4:8:1356:11614:22074,LH00166:186:2372Y3LT4:8:1361:28773:1687,LH00166:186:2372Y3LT4:8:1363:20432:13163,LH00166:186:2372Y3LT4:8:1363:45883:18151,LH00166:186:2372Y3LT4:8:1363:47663:2850,LH00166:186:2372Y3LT4:8:1366:47914:2219,LH00166:186:2372Y3LT4:8:1369:35439:20043,LH00166:186:2372Y3LT4:8:1374:48666:16442,LH00166:186:2372Y3LT4:8:1378:8176:20883,LH00166:186:2372Y3LT4:8:1390:10579:8875,LH00166:186:2372Y3LT4:8:1391:19170:9912,LH00166:186:2372Y3LT4:8:1392:35860:11888,LH00166:186:2372Y3LT4:8:1404:14421:9365,LH00166:186:2372Y3LT4:8:1405:20157:2709,LH00166:186:2372Y3LT4:8:1405:50786:9211,LH00166:186:2372Y3LT4:8:1406:6857:15685,LH00166:186:2372Y3LT4:8:1410:21994:16876,LH00166:186:2372Y3LT4:8:1411:45730:16456,LH00166:186:2372Y3LT4:8:1414:51279:22032,LH00166:186:2372Y3LT4:8:1416:44977:24485,LH00166:186:2372Y3LT4:8:1417:47129:5008,LH00166:186:2372Y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H00166:186:2372Y3LT4:8:2429:1186:13345,LH00166:186:2372Y3LT4:8:2429:28983:28814,LH00166:186:2372Y3LT4:8:2430:40487:18557,LH00166:186:2372Y3LT4:8:2430:40868:28296,LH00166:186:2372Y3LT4:8:2436:23167:18768,LH00166:186:2372Y3LT4:8:2448:22252:15951,LH00166:186:2372Y3LT4:8:2449:34129:7796,LH00166:186:2372Y3LT4:8:2451:22892:22859,LH00166:186:2372Y3LT4:8:2457:45778:17969,LH00166:186:2372Y3LT4:8:2474:15109:17198,LH00166:186:2372Y3LT4:8:2476:34258:11411,LH00166:186:2372Y3LT4:8:2481:33222:10262,LH00166:186:2372Y3LT4:8:2481:45997:23167,LH00166:186:2372Y3LT4:8:2484:30197:5302,LH00166:186:2372Y3LT4:8:2488:48869:7740,LH00166:186:2372Y3LT4:8:2490:39897:6521,LH00166:186:2372Y3LT4:8:2491:49540:22159 | YES_LDAS | GT | 1.2867 | chr15:90390873:+ | IQGAP1^ENSG00000140575.13 | . | . | . | AG | 1.8295 | chr3:12312380:+ | PPARG^ENSG00000132170.23 | 1 | LH00166:186:2372Y3LT4:8:1427:15675:11537 | ONLY_REF_SPLICE | ["INTERCHROMOSOMAL[chr15--chr3]"] | False | chr15:90390873-chr3:12312380 | 264.0 | 1.0 | 265 | 659_bdp | STAR-Fusion | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| fp_audit | 659_bld | fusion | AC061999--ERG | AC061999--ERG | AC061999--ERG | FP | FP | Arriba; STAR-Fusion | cgp_rna_exp0034 | 659_bld | altera_exact | 1023 | clinical | patient | Sarcoma | Sarcoma | 62 | unknown | False | 659_bld_T1_TRNA_1 | tRNA | altera_exact | ssf | 412.00 | 84.76 | False | cgp_rna_exp0034_lib_s08 | 200.00 | 128.09 | cgp_rna_exp0034 | H01 | False | 659_bld_T1_TRNA_1_B2372Y3LT4_1 | cgp_rna_exp0034 | 8 | 1.00 | False | nfcore_rnafusion | 659_bld_T1_TRNA_1_B2372Y3LT4_1 | BND | chr11 | chr21 | AC061999 | ERG | 36510537 | 38423561 | chr11:36510537-chr21:38423561 | +,- | STAR-Fusion | 1 | 0 | 8 | 0.056 | 8 | PASS | AC061999--ERG | AC061999--ERG | ["INTERCHROMOSOMAL[chr11--chr21]"] | ONLY_REF_SPLICE | YES_LDAS | 1.7056 | False | False | False | GT | AG | 8 | 1 | . | . | . | . | 0.056 | PASS | . | . | . | AC061999.1--ERG | 8 | LH00166:186:2372Y3LT4:8:1140:20189:19917,LH00166:186:2372Y3LT4:8:1261:19105:8202,LH00166:186:2372Y3LT4:8:1422:45681:25311,LH00166:186:2372Y3LT4:8:2117:13167:29333,LH00166:186:2372Y3LT4:8:2120:2667:19889,LH00166:186:2372Y3LT4:8:2151:45908:21248,LH00166:186:2372Y3LT4:8:2155:22155:21556,LH00166:186:2372Y3LT4:8:2242:7682:1504 | YES_LDAS | GT | 1.7056 | chr11:36510537:+ | AC061999.1^ENSG00000280331.1 | . | . | . | AG | 1.9899 | chr21:38423561:- | ERG^ENSG00000157554.19 | 0 | . | ONLY_REF_SPLICE | ["INTERCHROMOSOMAL[chr11--chr21]"] | False | chr11:36510537-chr21:38423561 | 8.0 | 0.0 | 8 | 659_bld | STAR-Fusion | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| fp_audit | 659_bld | fusion | NOTCH2--RFTN2 | RFTN2--NOTCH2 | NOTCH2--RFTN2 | FP | FP | Arriba; STAR-Fusion | cgp_rna_exp0034 | 659_bld | altera_exact | 1023 | clinical | patient | Sarcoma | Sarcoma | 62 | unknown | False | 659_bld_T1_TRNA_1 | tRNA | altera_exact | ssf | 412.00 | 84.76 | False | cgp_rna_exp0034_lib_s08 | 200.00 | 128.09 | cgp_rna_exp0034 | H01 | False | 659_bld_T1_TRNA_1_B2372Y3LT4_1 | cgp_rna_exp0034 | 8 | 1.00 | False | nfcore_rnafusion | 659_bld_T1_TRNA_1_B2372Y3LT4_1 | BND | chr2 | chr1 | RFTN2 | NOTCH2 | 197675320 | 119949126 | chr2:197675320-chr1:119949126 | -,- | STAR-Fusion | 1 | 1 | 141 | 0.9942 | 142 | PASS | in-frame | RFTN2--NOTCH2 | NOTCH2--RFTN2 | ["INTERCHROMOSOMAL[chr2--chr1]"] | ONLY_REF_SPLICE | YES_LDAS | 1.7819 | False | False | False | GT | AG | 141 | True | 1 | ENST00000429081.1 | 1-139 | ENST00000256646.7 | 2480-7416 | 0.9942 | PASS | atggggtgcggacttagaaagctagaagaccctgatgatagcagccctggaaaaatattttctaccctgaagagaccgcaagtggaaacaaagacagaatttgcttacgaatatgtattgctggattttactctacaagGCAAGAATTGTCAGACAGTATTGGCTCCCTGTTCCCCAAACCCTTGTGAGAATGCTGCTGTTTGCAAAGAGTCACCAAATTTTGAGAGTTATACTTGCTTGTGTGCTCCTGGCTGGCAAGGTCAGCGGTGTACCATTGACATTGACGAGTGTATCTCCAAGCCCTGCATGAACCATGGTCTCTGCCATAACACCCAGGGCAGCTACATGTGTGAATGTCCACCAGGCTTCAGTGGTATGGACTGTGAGGAGGACATTGATGACTGCCTTGCCAATCCTTGCCAGAATGGAGGTTCCTGTATGGATGGAGTGAATACTTTCTCCTGCCTCTGCCTTCCGGGTTTCACTGGGGATAAGTGCCAGACAGACATGAATGAGTGTCTGAGTGAACCCTGTAAGAATGGAGGGACCTGCTCTGACTACGTCAACAGTTACACTTGCAAGTGCCAGGCAGGATTTGATGGAGTCCATTGTGAGAACAACATCAATGAGTGCACTGAGAGCTCCTGTTTCAATGGTGGCACATGTGTTGATGGGATTAACTCCTTCTCTTGCTTGTGCCCTGTGGGTTTCACTGGATCCTTCTGCCTCCATGAGATCAATGAATGCAGCTCTCATCCATGCCTGAATGAGGGAACGTGTGTTGATGGCCTGGGTACCTACCGCTGCAGCTGCCCCCTGGGCTACACTGGGAAAAACTGTCAGACCCTGGTGAATCTCTGCAGTCGGTCTCCATGTAAAAACAAAGGTACTTGCGTTCAGAAAAAAGCAGAGTCCCAGTGCCTATGTCCATCTGGATGGGCTGGTGCCTATTGTGACGTGCCCAATGTCTCTTGTGACATAGCAGCCTCCAGGAGAGGTGTGCTTGTTGAACACTTGTGCCAGCACTCAGGTGTCTGCATCAATGCTGGCAACACGCATTACTGTCAGTGCCCCCTGGGCTATACTGGGAGCTACTGTGAGGAGCAACTCGATGAGTGTGCGTCCAACCCCTGCCAGCACGGGGCAACATGCAGTGACTTCATTGGTGGATACAGATGCGAGTGTGTCCCAGGCTATCAGGGTGTCAACTGTGAGTATGAAGTGGATGAGTGCCAGAATCAGCCCTGCCAGAATGGAGGCACCTGTATTGACCTTGTGAACCATTTCAAGTGCTCTTGCCCACCAGGCACTCGGGGCCTACTCTGTGAAGAGAACATTGATGACTGTGCCCGGGGTCCCCATTGCCTTAATGGTGGTCAGTGCATGGATAGGATTGGAGGCTACAGTTGTCGCTGCTTGCCTGGCTTTGCTGGGGAGCGTTGTGAGGGAGACATCAACGAGTGCCTCTCCAACCCCTGCAGCTCTGAGGGCAGCCTGGACTGTATACAGCTCACCAATGACTACCTGTGTGTTTGCCGTAGTGCCTTTACTGGCCGGCACTGTGAAACCTTCGTCGATGTGTGTCCCCAGATGCCCTGCCTGAATGGAGGGACTTGTGCTGTGGCCAGTAACATGCCTGATGGTTTCATTTGCCGTTGTCCCCCGGGATTTTCCGGGGCAAGGTGCCAGAGCAGCTGTGGACAAGTGAAATGTAGGAAGGGGGAGCAGTGTGTGCACACCGCCTCTGGACCCCGCTGCTTCTGCCCCAGTCCCCGGGACTGCGAGTCAGGCTGTGCCAGTAGCCCCTGCCAGCACGGGGGCAGCTGCCACCCTCAGCGCCAGCCTCCTTATTACTCCTGCCAGTGTGCCCCACCATTCTCGGGTAGCCGCTGTGAACTCTACACGGCACCCCCCAGCACCCCTCCTGCCACCTGTCTGAGCCAGTATTGTGCCGACAAAGCTCGGGATGGCGTCTGTGATGAGGCCTGCAACAGCCATGCCTGCCAGTGGGATGGGGGTGACTGTTCTCTCACCATGGAGAACCCCTGGGCCAACTGCTCCTCCCCACTTCCCTGCTGGGATTATATCAACAACCAGTGTGATGAGCTGTGCAACACGGTCGAGTGCCTGTTTGACAACTTTGAATGCCAGGGGAACAGCAAGACATGCAAGTATGACAAATACTGTGCAGACCACTTCAAAGACAACCACTGTGACCAGGGGTGCAACAGTGAGGAGTGTGGTTGGGATGGGCTGGACTGTGCTGCTGACCAACCTGAGAACCTGGCAGAAGGTACCCTGGTTATTGTGGTATTGATGCCACCTGAACAACTGCTCCAGGATGCTCGCAGCTTCTTGCGGGCACTGGGTACCCTGCTCCACACCAACCTGCGCATTAAGCGGGACTCCCAGGGGGAACTCATGGTGTACCCCTATTATGGTGAGAAGTCAGCTGCTATGAAGAAACAGAGGATGACACGCAGATCCCTTCCTGGTGAACAAGAACAGGAGGTGGCTGGCTCTAAAGTCTTTCTGGAAATTGACAACCGCCAGTGTGTTCAAGACTCAGACCACTGCTTCAAGAACACGGATGCAGCAGCAGCTCTCCTGGCCTCTCACGCCATACAGGGGACCCTGTCATACCCTCTTGTGTCTGTCGTCAGTGAATCCCTGACTCCAGAACGCACTCAGCTCCTCTATCTCCTTGCTGTTGCTGTTGTCATCATTCTGTTTATTATTCTGCTGGGGGTAATCATGGCAAAACGAAAGCGTAAGCATGGCTCTCTCTGGCTGCCTGAAGGTTTCACTCTTCGCCGAGATGCAAGCAATCACAAGCGTCGTGAGCCAGTGGGACAGGATGCTGTGGGGCTGAAAAATCTCTCAGTGCAAGTCTCAGAAGCTAACCTAATTGGTACTGGAACAAGTGAACACTGGGTCGATGATGAAGGGCCCCAGCCAAAGAAAGTAAAGGCTGAAGATGAGGCCTTACTCTCAGAAGAAGATGACCCCATTGATCGACGGCCATGGACACAGCAGCACCTTGAAGCTGCAGACATCCGTAGGACACCATCGCTGGCTCTCACCCCTCCTCAGGCAGAGCAGGAGGTGGATGTGTTAGATGTGAATGTCCGTGGCCCAGATGGCTGCACCCCATTGATGTTGGCTTCTCTCCGAGGAGGCAGCTCAGATTTGAGTGATGAAGATGAAGATGCAGAGGACTCTTCTGCTAACATCATCACAGACTTGGTCTACCAGGGTGCCAGCCTCCAGGCCCAGACAGACCGGACTGGTGAGATGGCCCTGCACCTTGCAGCCCGCTACTCACGGGCTGATGCTGCCAAGCGTCTCCTGGATGCAGGTGCAGATGCCAATGCCCAGGACAACATGGGCCGCTGTCCACTCCATGCTGCAGTGGCAGCTGATGCCCAAGGTGTCTTCCAGATTCTGATTCGCAACCGAGTAACTGATCTAGATGCCAGGATGAATGATGGTACTACACCCCTGATCCTGGCTGCCCGCCTGGCTGTGGAGGGAATGGTGGCAGAACTGATCAACTGCCAAGCGGATGTGAATGCAGTGGATGACCATGGAAAATCTGCTCTTCACTGGGCAGCTGCTGTCAATAATGTGGAGGCAACTCTTTTGTTGTTGAAAAATGGGGCCAACCGAGACATGCAGGACAACAAGGAAGAGACACCTCTGTTTCTTGCTGCCCGGGAGGGGAGCTATGAAGCAGCCAAGATCCTGTTAGACCATTTTGCCAATCGAGACATCACAGACCATATGGATCGTCTTCCCCGGGATGTGGCTCGGGATCGCATGCACCATGACATTGTGCGCCTTCTGGATGAATACAATGTGACCCCAAGCCCTCCAGGCACCGTGTTGACTTCTGCTCTCTCACCTGTCATCTGTGGGCCCAACAGATCTTTCCTCAGCCTGAAGCACACCCCAATGGGCAAGAAGTCTAGACGGCCCAGTGCCAAGAGTACCATGCCTACTAGCCTCCCTAACCTTGCCAAGGAGGCAAAGGATGCCAAGGGTAGTAGGAGGAAGAAGTCTCTGAGTGAGAAGGTCCAACTGTCTGAGAGTTCAGTAACTTTATCCCCTGTTGATTCCCTAGAATCTCCTCACACGTATGTTTCCGACACCACATCCTCTCCAATGATTACATCCCCTGGGATCTTACAGGCCTCACCCAACCCTATGTTGGCCACTGCCGCCCCTCCTGCCCCAGTCCATGCCCAGCATGCACTATCTTTTTCTAACCTTCATGAAATGCAGCCTTTGGCACATGGGGCCAGCACTGTGCTTCCCTCAGTGAGCCAGTTGCTATCCCACCACCACATTGTGTCTCCAGGCAGTGGCAGTGCTGGAAGCTTGAGTAGGCTCCATCCAGTCCCAGTCCCAGCAGATTGGATGAACCGCATGGAGGTGAATGAGACCCAGTACAATGAGATGTTTGGTATGGTCCTGGCTCCAGCTGAGGGCACCCATCCTGGCATAGCTCCCCAGAGCAGGCCACCTGAAGGGAAGCACATAACCACCCCTCGGGAGCCCTTGCCCCCCATTGTGACTTTCCAGCTCATCCCTAAAGGCAGTATTGCCCAACCAGCGGGGGCTCCCCAGCCTCAGTCCACCTGCCCTCCAGCTGTTGCGGGCCCCCTGCCCACCATGTACCAGATTCCAGAAATGGCCCGTTTGCCCAGTGTGGCTTTCCCCACTGCCATGATGCCCCAGCAGGACGGGCAGGTAGCTCAGACCATTCTCCCAGCCTATCATCCTTTCCCAGCCTCTGTGGGCAAGTACCCCACACCCCCTTCACAGCACAGTTATGCTTCCTCAAATGCTGCTGAGCGAACACCCAGTCACAGTGGTCACCTCCAGGGTGAGCATCCCTACCTGACACCATCCCCAGAGTCTCCTGACCAGTGGTCAAGTTCATCACCCCACTCTGCTTCTGACTGGTCAGATGTGACCACCAGCCCTACCCCTGGGGGTGCTGGAGGAGGTCAGCGGGGACCTGGGACACACATGTCTGAGCCACCACACAACAACATGCAGGTTTATGCGTGA | chr2|-|[0]197675320-197675458[0]<==>chr1|-|[2]119915306-119916694[0]|[2]119917665-119917762[1]|[0]119918406-119918553[0]|[2]119919312-119919613[1]|[0]119920229-119920397[0]|[2]119921713-119921809[2]|[1]119922236-119922446[1]|[0]119922636-119922778[2]|[1]119923637-119923984[2]|[1]119925305-119925810[0]|[2]119926499-119926611[1]|[0]119928976-119929212[1]|[0]119935472-119935604[0]|[2]119937282-119937466[1]|[0]119937857-119938010[0]|[2]119940555-119940756[2]|[1]119941526-119941754[1]|[0]119948414-119948566[1]|[0]119949007-119949126[1] | MGCGLRKLEDPDDSSPGKIFSTLKRPQVETKTEFAYEYVLLDFTLQGKNCQTVLAPCSPNPCENAAVCKESPNFESYTCLCAPGWQGQRCTIDIDECISKPCMNHGLCHNTQGSYMCECPPGFSGMDCEEDIDDCLANPCQNGGSCMDGVNTFSCLCLPGFTGDKCQTDMNECLSEPCKNGGTCSDYVNSYTCKCQAGFDGVHCENNINECTESSCFNGGTCVDGINSFSCLCPVGFTGSFCLHEINECSSHPCLNEGTCVDGLGTYRCSCPLGYTGKNCQTLVNLCSRSPCKNKGTCVQKKAESQCLCPSGWAGAYCDVPNVSCDIAASRRGVLVEHLCQHSGVCINAGNTHYCQCPLGYTGSYCEEQLDECASNPCQHGATCSDFIGGYRCECVPGYQGVNCEYEVDECQNQPCQNGGTCIDLVNHFKCSCPPGTRGLLCEENIDDCARGPHCLNGGQCMDRIGGYSCRCLPGFAGERCEGDINECLSNPCSSEGSLDCIQLTNDYLCVCRSAFTGRHCETFVDVCPQMPCLNGGTCAVASNMPDGFICRCPPGFSGARCQSSCGQVKCRKGEQCVHTASGPRCFCPSPRDCESGCASSPCQHGGSCHPQRQPPYYSCQCAPPFSGSRCELYTAPPSTPPATCLSQYCADKARDGVCDEACNSHACQWDGGDCSLTMENPWANCSSPLPCWDYINNQCDELCNTVECLFDNFECQGNSKTCKYDKYCADHFKDNHCDQGCNSEECGWDGLDCAADQPENLAEGTLVIVVLMPPEQLLQDARSFLRALGTLLHTNLRIKRDSQGELMVYPYYGEKSAAMKKQRMTRRSLPGEQEQEVAGSKVFLEIDNRQCVQDSDHCFKNTDAAAALLASHAIQGTLSYPLVSVVSESLTPERTQLLYLLAVAVVIILFIILLGVIMAKRKRKHGSLWLPEGFTLRRDASNHKRREPVGQDAVGLKNLSVQVSEANLIGTGTSEHWVDDEGPQPKKVKAEDEALLSEEDDPIDRRPWTQQHLEAADIRRTPSLALTPPQAEQEVDVLDVNVRGPDGCTPLMLASLRGGSSDLSDEDEDAEDSSANIITDLVYQGASLQAQTDRTGEMALHLAARYSRADAAKRLLDAGADANAQDNMGRCPLHAAVAADAQGVFQILIRNRVTDLDARMNDGTTPLILAARLAVEGMVAELINCQADVNAVDDHGKSALHWAAAVNNVEATLLLLKNGANRDMQDNKEETPLFLAAREGSYEAAKILLDHFANRDITDHMDRLPRDVARDRMHHDIVRLLDEYNVTPSPPGTVLTSALSPVICGPNRSFLSLKHTPMGKKSRRPSAKSTMPTSLPNLAKEAKDAKGSRRKKSLSEKVQLSESSVTLSPVDSLESPHTYVSDTTSSPMITSPGILQASPNPMLATAAPPAPVHAQHALSFSNLHEMQPLAHGASTVLPSVSQLLSHHHIVSPGSGSAGSLSRLHPVPVPADWMNRMEVNETQYNEMFGMVLAPAEGTHPGIAPQSRPPEGKHITTPREPLPPIVTFQLIPKGSIAQPAGAPQPQSTCPPAVAGPLPTMYQIPEMARLPSVAFPTAMMPQQDGQVAQTILPAYHPFPASVGKYPTPPSQHSYASSNAAERTPSHSGHLQGEHPYLTPSPESPDQWSSSSPHSASDWSDVTTSPTPGGAGGGQRGPGTHMSEPPHNNMQVYA* | RFTN2--NOTCH2 | 141 | LH00166:186:2372Y3LT4:8:1102:34452:9954,LH00166:186:2372Y3LT4:8:1105:10991:8300,LH00166:186:2372Y3LT4:8:1107:30731:8917,LH00166:186:2372Y3LT4:8:1117:36450:5484,LH00166:186:2372Y3LT4:8:1130:9260:23826,LH00166:186:2372Y3LT4:8:1133:10902:24905,LH00166:186:2372Y3LT4:8:1136:3702:24597,LH00166:186:2372Y3LT4:8:1149:21443:28983,LH00166:186:2372Y3LT4:8:1150:19866:20561,LH00166:186:2372Y3LT4:8:1153:38384:28226,LH00166:186:2372Y3LT4:8:1159:50535:12644,LH00166:186:2372Y3LT4:8:1168:33951:15194,LH00166:186:2372Y3LT4:8:1169:47509:16848,LH00166:186:2372Y3LT4:8:1178:6356:8342,LH00166:186:2372Y3LT4:8:1179:44160:29095,LH00166:186:2372Y3LT4:8:1188:27689:17997,LH00166:186:2372Y3LT4:8:1191:38837:19118,LH00166:186:2372Y3LT4:8:1192:5765:1518,LH00166:186:2372Y3LT4:8:1195:39379:6941,LH00166:186:2372Y3LT4:8:1196:47437:9604,LH00166:186:2372Y3LT4:8:1198:50705:2653,LH00166:186:2372Y3LT4:8:1204:33125:7039,LH00166:186:2372Y3LT4:8:1205:29865:5120,LH00166:186:2372Y3LT4:8:1206:9745:7852,LH00166:186:2372Y3LT4:8:1228:18863:3578,LH00166:186:2372Y3LT4:8:1230:25027:28772,LH00166:186:2372Y3LT4:8:1237:15991:11803,LH00166:186:2372Y3LT4:8:1239:46231:1687,LH00166:186:2372Y3LT4:8:1240:35941:28366,LH00166:186:2372Y3LT4:8:1246:32171:13373,LH00166:186:2372Y3LT4:8:1262:38869:8553,LH00166:186:2372Y3LT4:8:1263:32632:14648,LH00166:186:2372Y3LT4:8:1264:18038:4027,LH00166:186:2372Y3LT4:8:1271:17326:2766,LH00166:186:2372Y3LT4:8:1275:20319:26138,LH00166:186:2372Y3LT4:8:1275:6881:11495,LH00166:186:2372Y3LT4:8:1282:27462:3312,LH00166:186:2372Y3LT4:8:1292:1995:28983,LH00166:186:2372Y3LT4:8:1293:19429:27119,LH00166:186:2372Y3LT4:8:1295:32252:21220,LH00166:186:2372Y3LT4:8:1314:44225:26741,LH00166:186:2372Y3LT4:8:1328:21937:25830,LH00166:186:2372Y3LT4:8:1328:34954:11523,LH00166:186:2372Y3LT4:8:1330:12496:26404,LH00166:186:2372Y3LT4:8:1331:46409:22397,LH00166:186:2372Y3LT4:8:1340:11363:21696,LH00166:186:2372Y3LT4:8:1345:29655:3746,LH00166:186:2372Y3LT4:8:1348:46150:27133,LH00166:186:2372Y3LT4:8:1355:22188:4097,LH00166:186:2372Y3LT4:8:1356:6137:8384,LH00166:186:2372Y3LT4:8:1357:12666:6465,LH00166:186:2372Y3LT4:8:1357:16735:11495,LH00166:186:2372Y3LT4:8:1376:26217:2611,LH00166:186:2372Y3LT4:8:1379:17366:11467,LH00166:186:2372Y3LT4:8:1379:32446:24723,LH00166:186:2372Y3LT4:8:1391:2027:7095,LH00166:186:2372Y3LT4:8:1391:29736:11061,LH00166:186:2372Y3LT4:8:1391:40423:16512,LH00166:186:2372Y3LT4:8:1397:45268:6605,LH00166:186:2372Y3LT4:8:1403:29493:27904,LH00166:186:2372Y3LT4:8:1409:31087:3396,LH00166:186:2372Y3LT4:8:1412:41588:3424,LH00166:186:2372Y3LT4:8:1415:30213:6843,LH00166:186:2372Y3LT4:8:1416:40673:8398,LH00166:186:2372Y3LT4:8:1417:20028:14928,LH00166:186:2372Y3LT4:8:1429:15869:27735,LH00166:186:2372Y3LT4:8:1430:13798:22859,LH00166:186:2372Y3LT4:8:1435:32964:18557,LH00166:186:2372Y3LT4:8:1436:47954:20029,LH00166:186:2372Y3LT4:8:1437:20109:16498,LH00166:186:2372Y3LT4:8:1438:21435:23560,LH00166:186:2372Y3LT4:8:1439:18410:28492,LH00166:186:2372Y3LT4:8:1444:49928:22691,LH00166:186:2372Y3LT4:8:1449:3014:11383,LH00166:186:2372Y3LT4:8:1452:20246:4657,LH00166:186:2372Y3LT4:8:1459:2214:14172,LH00166:186:2372Y3LT4:8:1462:51368:26166,LH00166:186:2372Y3LT4:8:1471:27115:11369,LH00166:186:2372Y3LT4:8:1474:17002:29417,LH00166:186:2372Y3LT4:8:1482:16816:13709,LH00166:186:2372Y3LT4:8:1482:46498:27792,LH00166:186:2372Y3LT4:8:1488:38594:15895,LH00166:186:2372Y3LT4:8:2101:20829:15923,LH00166:186:2372Y3LT4:8:2106:42324:24120,LH00166:186:2372Y3LT4:8:2111:10352:2738,LH00166:186:2372Y3LT4:8:2113:26030:22355,LH00166:186:2372Y3LT4:8:2120:45560:21010,LH00166:186:2372Y3LT4:8:2130:38400:5218,LH00166:186:2372Y3LT4:8:2132:35099:2135,LH00166:186:2372Y3LT4:8:2134:14292:28114,LH00166:186:2372Y3LT4:8:2155:11080:3746,LH00166:186:2372Y3LT4:8:2155:13976:9043,LH00166:186:2372Y3LT4:8:2155:7529:17885,LH00166:186:2372Y3LT4:8:2163:13960:10556,LH00166:186:2372Y3LT4:8:2165:45552:28702,LH00166:186:2372Y3LT4:8:2166:28360:15349,LH00166:186:2372Y3LT4:8:2167:6720:18557,LH00166:186:2372Y3LT4:8:2167:7383:28058,LH00166:186:2372Y3LT4:8:2174:43222:1743,LH00166:186:2372Y3LT4:8:2183:50818:27147,LH00166:186:2372Y3LT4:8:2193:24720:14228,LH00166:186:2372Y3LT4:8:2194:48958:16217,LH00166:186:2372Y3LT4:8:2205:21541:19510,LH00166:186:2372Y3LT4:8:2232:33813:19244,LH00166:186:2372Y3LT4:8:2238:11800:3873,LH00166:186:2372Y3LT4:8:2241:19583:3564,LH00166:186:2372Y3LT4:8:2248:3006:10809,LH00166:186:2372Y3LT4:8:2255:15392:12084,LH00166:186:2372Y3LT4:8:2259:50228:9141,LH00166:186:2372Y3LT4:8:2270:22163:27455,LH00166:186:2372Y3LT4:8:2275:23239:22789,LH00166:186:2372Y3LT4:8:2275:5983:12798,LH00166:186:2372Y3LT4:8:2279:17487:23476,LH00166:186:2372Y3LT4:8:2291:38675:7348,LH00166:186:2372Y3LT4:8:2307:5166:10514,LH00166:186:2372Y3LT4:8:2311:25642:8903,LH00166:186:2372Y3LT4:8:2318:31119:20687,LH00166:186:2372Y3LT4:8:2323:1858:18571,LH00166:186:2372Y3LT4:8:2323:38578:26628,LH00166:186:2372Y3LT4:8:2327:46385:27091,LH00166:186:2372Y3LT4:8:2349:50309:12168,LH00166:186:2372Y3LT4:8:2361:15052:5442,LH00166:186:2372Y3LT4:8:2374:9195:10010,LH00166:186:2372Y3LT4:8:2377:36005:25620,LH00166:186:2372Y3LT4:8:2386:15449:15012,LH00166:186:2372Y3LT4:8:2390:47380:19230,LH00166:186:2372Y3LT4:8:2402:31329:9758,LH00166:186:2372Y3LT4:8:2416:7690:2247,LH00166:186:2372Y3LT4:8:2424:8208:26040,LH00166:186:2372Y3LT4:8:2428:5352:12854,LH00166:186:2372Y3LT4:8:2432:18879:16357,LH00166:186:2372Y3LT4:8:2439:28474:1280,LH00166:186:2372Y3LT4:8:2442:37931:16736,LH00166:186:2372Y3LT4:8:2443:5514:14396,LH00166:186:2372Y3LT4:8:2443:9284:12126,LH00166:186:2372Y3LT4:8:2457:43594:7572,LH00166:186:2372Y3LT4:8:2465:37348:21892,LH00166:186:2372Y3LT4:8:2474:10328:1406,LH00166:186:2372Y3LT4:8:2492:48278:12406,LH00166:186:2372Y3LT4:8:2494:48286:14550,LH00166:186:2372Y3LT4:8:2496:31880:15082 | YES_LDAS | GT | 1.7819 | chr2:197675320:- | RFTN2^ENSG00000162944.11 | Raftlin|1-112|1e-58 | . | INFRAME | AG | 1.8892 | chr1:119949126:- | NOTCH2^ENSG00000134250.20 | 1 | LH00166:186:2372Y3LT4:8:2110:35876:9001 | ONLY_REF_SPLICE | ["INTERCHROMOSOMAL[chr2--chr1]"] | False | chr2:197675320-chr1:119949126 | 141.0 | 1.0 | 142 | 659_bld | STAR-Fusion | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| fp_audit | 659_cX2 | fusion | ESR1--LINC02527 | ESR1--LINC02527 | ESR1--LINC02527 | FP | FP | Arriba | cgp_rna_exp0034 | 659_cX2 | altera_exact | 1023 | clinical | patient | Sarcoma | Sarcoma | 62 | unknown | False | 659_cX2_T1_TRNA_1 | tRNA | altera_exact | ssf | 356.00 | 89.69 | False | cgp_rna_exp0034_lib_s01 | 200.00 | 117.97 | cgp_rna_exp0034 | A01 | False | 659_cX2_T1_TRNA_1_B2372Y3LT4_1 | cgp_rna_exp0034 | 8 | 1.00 | False | nfcore_rnafusion | 659_cX2_T1_TRNA_1_B2372Y3LT4_1 | BND | chr6 | chr6 | ESR1 | LINC02527 | 152061124 | 111901850 | chr6:152061124-chr6:111901850 | +,- | STAR-Fusion | 1 | 0 | 2 | 0.0257 | 2 | FAIL | ESR1--LINC02527 | ESR1--LINC02527 | ["INTRACHROMOSOMAL[chr6:39.75Mb]"] | ONLY_REF_SPLICE | YES_LDAS | 1.6049 | False | False | False | GT | AG | 2 | Read count too low: 2 < 8 | 0 | . | . | . | . | 0.0257 | FAIL | . | . | . | ESR1--LINC02527 | 2 | LH00166:186:2372Y3LT4:8:2102:2327:11201,LH00166:186:2372Y3LT4:8:2483:23814:22579 | YES_LDAS | GT | 1.6049 | chr6:152061124:+ | ESR1^ENSG00000091831.24 | . | . | . | AG | 1.9656 | chr6:111901850:- | LINC02527^ENSG00000227012.3 | 0 | . | ONLY_REF_SPLICE | ["INTRACHROMOSOMAL[chr6:39.75Mb]"] | False | chr6:152061124-chr6:111901850 | 2.0 | 0.0 | Read count too low: 2 < 8 | 2 | 659_cX2 | STAR-Fusion | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| fp_audit | 659_db9 | fusion | CSF1R--CSNK1A1 | CSNK1A1--CSF1R | CSF1R--CSNK1A1 | FP | FP | Arriba; STAR-Fusion | cgp_rna_exp0034 | 659_db9 | altera_exact | 1023 | clinical | patient | Ovarian | Ovarian | 67 | unknown | False | 659_db9_T1_TRNA_1 | tRNA | altera_exact | ssf | 16.5 | 79.94 | False | cgp_rna_exp0034_lib_s07 | 200.00 | 127.5 | cgp_rna_exp0034 | G01 | False | 659_db9_T1_TRNA_1_B2372Y3LT4_1 | cgp_rna_exp0034 | 8 | 1.00 | False | nfcore_rnafusion | 659_db9_T1_TRNA_1_B2372Y3LT4_1 | BND | chr5 | chr5 | CSNK1A1 | CSF1R | 149520290 | 150068330 | chr5:149520290-chr5:150068330 | -,- | STAR-Fusion | 1 | 8 | 83 | 0.4172 | 91 | PASS | out-of-frame | CSNK1A1--CSF1R | CSF1R--CSNK1A1 | ["INTRACHROMOSOMAL[chr5:0.50Mb]"] | ONLY_REF_SPLICE | YES_LDAS | 1.7465 | False | False | False | GT | AG | 83 | False | 1 | ENST00000657706.1 | 1-690 | ENST00000675795.1 | 1511-2919 | 0.4172 | PASS | atggcgagtagcagcggctccaaggctgaattcattgtcggagggaaatataaactggtacggaagatcgggtctggctccttcggggacatctatttggcgatcaacatcaccaacggcgaggaagtggcagtgaagctagaatctcagaaggccaggcatccccagttgctgtacgagagcaagctctataagattcttcaaggtggggttggcatcccccacatacgagttttgttcttgttgcccaggcaggagtgcaatagcgtgatctcggctcactgcaacctcggcctcccgggttcaagcaattttcctgcctcagccttccaagtagctggattacagcatgtaaagctcataagccttgcactgaagaacctatactgcagcttcaatctatctgccaccttgactcttccctttatgacagcccatgccccaaaatggtttgcccctgcctggtggtatggtcaggaaaaagactacaatgtactagtcatggatcttctgggacctagcctcgaagacctcttcaatttctgttcaagaaggttcacaatgaaaactgtacttatgttagctgaccagatgatcagtagaattgaatatgtgcatacaaagaattttatacacagagacattaaaccagataacttcctaatgggtattgggcgtcactgtaataagGAGCCCACACGCATCCCCCGGATGAGTTCCTCTTCACACCAGTGGTGGTCGCCTGCATGTCCATCATGGCCTTGCTGCTGCTGCTGCTCCTGCTGCTATTGTACAAGTATAAGCAGAAGCCCAAGTACCAGGTCCGCTGGAAGATCATCGAGAGCTATGAGGGCAACAGTTATACTTTCATCGACCCCACGCAGCTGCCTTACAACGAGAAGTGGGAGTTCCCCCGGAACAACCTGCAGTTTGGTAAGACCCTCGGAGCTGGAGCCTTTGGGAAGGTGGTGGAGGCCACGGCCTTTGGTCTGGGCAAGGAGGATGCTGTCCTGAAGGTGGCTGTGAAGATGCTGAAGTCCACGGCCCATGCTGATGAGAAGGAGGCCCTCATGTCCGAGCTGAAGATCATGAGCCACCTGGGCCAGCACGAGAACATCGTCAACCTTCTGGGAGCCTGTACCCATGGAGGCCCTGTACTGGTCATCACGGAGTACTGTTGCTATGGCGACCTGCTCAACTTTCTGCGAAGGAAGGCTGAGGCCATGCTGGGACCCAGCCTGAGCCCCGGCCAGGACCCCGAGGGAGGCGTCGACTATAAGAACATCCACCTCGAGAAGAAATATGTCCGCAGGGACAGTGGCTTCTCCAGCCAGGGTGTGGACACCTATGTGGAGATGAGGCCTGTCTCCACTTCTTCAAATGACTCCTTCTCTGAGCAAGACCTGGACAAGGAGGATGGACGGCCCCTGGAGCTCCGGGACCTGCTTCACTTCTCCAGCCAAGTAGCCCAGGGCATGGCCTTCCTCGCTTCCAAGAATTGCATCCACCGGGACGTGGCAGCGCGTAACGTGCTGTTGACCAATGGTCATGTGGCCAAGATTGGGGACTTCGGGCTGGCTAGGGACATCATGAATGACTCCAACTACATTGTCAAGGGCAATGCCCGCCTGCCTGTGAAGTGGATGGCCCCAGAGAGCATCTTTGACTGTGTCTACACGGTTCAGAGCGACGTCTGGTCCTATGGCATCCTCCTCTGGGAGATCTTCTCACTTGGGCTGAATCCCTACCCTGGCATCCTGGTGAACAGCAAGTTCTATAAACTGGTGAAGGATGGATACCAAATGGCCCAGCCTGCATTTGCCCCAAAGAATATATACAGCATCATGCAGGCCTGCTGGGCCTTGGAGCCCACCCACAGACCCACCTTCCAGCAGATCTGCTCCTTCCTTCAGGAGCAGGCCCAAGAGGACAGGAGAGAGCGGGACTATACCAATCTGCCGAGCAGCAGCAGAAGCGGTGGCAGCGGCAGCAGCAGCAGTGAGCTGGAGGAGGAGAGCTCTAGTGAGCACCTGACCTGCTGCGAGCAAGGGGATATCGCCCAGCCCTTGCTGCAGCCCAACAACTATCAGTTCTGCTGA | chr5|-|[2]149520290-149520388[0]|[2]149525045-149525171[2]|[1]149529604-149529719[0]|[2]149531394-149531511[2]|[1]149550075-149550181[0]|[2]149550842-149550964[0]<==>chr5|-|[2]150054069-150054224[0]|[2]150054322-150054430[2]|[1]150055237-150055336[1]|[0]150056026-150056137[0]|[2]150056219-150056341[0]|[2]150057287-150057384[1]|[0]150057504-150057592[2]|[1]150059700-150059862[1]|[0]150060862-150060972[1]|[0]150061491-150061595[1]|[0]150061723-150061849[0]|[2]150068215-150068330[1] | MASSSGSKAEFIVGGKYKLVRKIGSGSFGDIYLAINITNGEEVAVKLESQKARHPQLLYESKLYKILQGGVGIPHIRVLFLLPRQECNSVISAHCNLGLPGSSNFPASAFQVAGLQHVKLISLALKNLYCSFNLSATLTLPFMTAHAPKWFAPAWWYGQEKDYNVLVMDLLGPSLEDLFNFCSRRFTMKTVLMLADQMISRIEYVHTKNFIHRDIKPDNFLMGIGRHCNKEPTRIPRMSSSSHQWWSPACPSWPCCCCCSCCYCTSISRSPSTRSAGRSSRAMRATVILSSTPRSCLTTRSGSSPGTTCSLVRPSELEPLGRWWRPRPLVWARRMLS*RWL*RC*SPRPMLMRRRPSCPS*RS*ATWASTRTSSTFWEPVPMEALYWSSRSTVAMATCSTFCEGRLRPCWDPA*APARTPREASTIRTSTSRRNMSAGTVASPARVWTPMWR*GLSPLLQMTPSLSKTWTRRMDGPWSSGTCFTSPAK*PRAWPSSLPRIASTGTWQRVTCC*PMVMWPRLGTSGWLGTS*MTPTTLSRAMPACL*SGWPQRASLTVSTRFRATSGPMASSSGRSSHLG*IPTLASW*TASSINW*RMDTKWPSLHLPQRIYTASCRPAGPWSPPTDPPSSRSAPSFRSRPKRTGESGTIPICRAAAEAVAAAAAAVSWRRRALVST*PAASKGISPSPCCSPTTISSA | CSNK1A1--CSF1R | 83 | LH00166:186:2372Y3LT4:8:1117:48189:13429,LH00166:186:2372Y3LT4:8:1117:51109:28296,LH00166:186:2372Y3LT4:8:1132:2230:16329,LH00166:186:2372Y3LT4:8:1135:24243:2443,LH00166:186:2372Y3LT4:8:1136:11072:28450,LH00166:186:2372Y3LT4:8:1141:39670:14284,LH00166:186:2372Y3LT4:8:1143:21832:13373,LH00166:186:2372Y3LT4:8:1147:8815:2401,LH00166:186:2372Y3LT4:8:1151:7982:2247,LH00166:186:2372Y3LT4:8:1154:11816:23462,LH00166:186:2372Y3LT4:8:1155:44702:12995,LH00166:186:2372Y3LT4:8:1156:17277:1168,LH00166:186:2372Y3LT4:8:1170:20367:27371,LH00166:186:2372Y3LT4:8:1170:47898:16259,LH00166:186:2372Y3LT4:8:1201:49144:12392,LH00166:186:2372Y3LT4:8:1209:19154:15377,LH00166:186:2372Y3LT4:8:1228:20473:11944,LH00166:186:2372Y3LT4:8:1229:9187:15208,LH00166:186:2372Y3LT4:8:1246:29533:29263,LH00166:186:2372Y3LT4:8:1247:10473:20687,LH00166:186:2372Y3LT4:8:1252:24243:12112,LH00166:186:2372Y3LT4:8:1253:35771:24316,LH00166:186:2372Y3LT4:8:1266:28239:14158,LH00166:186:2372Y3LT4:8:1268:27090:25003,LH00166:186:2372Y3LT4:8:1275:44896:28688,LH00166:186:2372Y3LT4:8:1279:31871:9239,LH00166:186:2372Y3LT4:8:1297:35593:15265,LH00166:186:2372Y3LT4:8:1312:35641:14816,LH00166:186:2372Y3LT4:8:1318:19372:17408,LH00166:186:2372Y3LT4:8:1329:26055:4013,LH00166:186:2372Y3LT4:8:1331:31774:23055,LH00166:186:2372Y3LT4:8:1334:4333:22243,LH00166:186:2372Y3LT4:8:1336:28061:27161,LH00166:186:2372Y3LT4:8:1343:16889:22663,LH00166:186:2372Y3LT4:8:1345:24048:19650,LH00166:186:2372Y3LT4:8:1359:16282:24387,LH00166:186:2372Y3LT4:8:1365:29412:5960,LH00166:186:2372Y3LT4:8:1366:20173:10556,LH00166:186:2372Y3LT4:8:1379:26613:6493,LH00166:186:2372Y3LT4:8:1379:28385:13121,LH00166:186:2372Y3LT4:8:1405:16881:4013,LH00166:186:2372Y3LT4:8:1422:40390:19174,LH00166:186:2372Y3LT4:8:1426:3192:15026,LH00166:186:2372Y3LT4:8:1477:35763:1238,LH00166:186:2372Y3LT4:8:1480:22689:4853,LH00166:186:2372Y3LT4:8:1482:14300:15657,LH00166:186:2372Y3LT4:8:1491:28401:18641,LH00166:186:2372Y3LT4:8:2135:7076:11467,LH00166:186:2372Y3LT4:8:2149:36224:13835,LH00166:186:2372Y3LT4:8:2155:34606:7109,LH00166:186:2372Y3LT4:8:2156:37599:22971,LH00166:186:2372Y3LT4:8:2182:30124:20645,LH00166:186:2372Y3LT4:8:2194:1785:7656,LH00166:186:2372Y3LT4:8:2197:29574:19076,LH00166:186:2372Y3LT4:8:2210:19469:6227,LH00166:186:2372Y3LT4:8:2211:40520:1350,LH00166:186:2372Y3LT4:8:2220:5053:4629,LH00166:186:2372Y3LT4:8:2221:2408:8763,LH00166:186:2372Y3LT4:8:2224:21743:23027,LH00166:186:2372Y3LT4:8:2247:20173:4279,LH00166:186:2372Y3LT4:8:2248:14769:23756,LH00166:186:2372Y3LT4:8:2261:21071:18221,LH00166:186:2372Y3LT4:8:2265:34865:7614,LH00166:186:2372Y3LT4:8:2266:5482:21290,LH00166:186:2372Y3LT4:8:2292:10546:14031,LH00166:186:2372Y3LT4:8:2317:1696:7362,LH00166:186:2372Y3LT4:8:2325:44403:6563,LH00166:186:2372Y3LT4:8:2326:37971:27876,LH00166:186:2372Y3LT4:8:2331:29145:10262,LH00166:186:2372Y3LT4:8:2340:3556:16638,LH00166:186:2372Y3LT4:8:2361:7577:2808,LH00166:186:2372Y3LT4:8:2362:16881:19734,LH00166:186:2372Y3LT4:8:2382:10781:2107,LH00166:186:2372Y3LT4:8:2404:33150:1280,LH00166:186:2372Y3LT4:8:2407:16573:18641,LH00166:186:2372Y3LT4:8:2429:18393:7109,LH00166:186:2372Y3LT4:8:2436:1445:19987,LH00166:186:2372Y3LT4:8:2436:8435:4125,LH00166:186:2372Y3LT4:8:2449:49313:11874,LH00166:186:2372Y3LT4:8:2454:12561:18866,LH00166:186:2372Y3LT4:8:2462:28506:22411,LH00166:186:2372Y3LT4:8:2476:10028:8342,LH00166:186:2372Y3LT4:8:2492:24291:12672 | YES_LDAS | GT | 1.9656 | chr5:149520290:- | CSNK1A1^ENSG00000113712.19 | Pkinase|17-54|8.9e-08^PK_Tyr_Ser-Thr|18-60|1.9e-05^ABC1|23-49|0.00025^Pkinase|159-313|1.1e-20^PK_Tyr_Ser-Thr|164-322|5.5e-12^Pox_ser-thr_kin|186-222|1.5e-05^Kdo|197-248|8.8e-05^Pkinase_fungal|203-291|2.1e-13^ABC1|273-296|1.9^Kdo|339-374|0.64 | . | FRAMESHIFT | AG | 1.7465 | chr5:150068330:- | CSF1R^ENSG00000182578.14 | 8 | LH00166:186:2372Y3LT4:8:1160:7124:21416,LH00166:186:2372Y3LT4:8:1277:14446:3102,LH00166:186:2372Y3LT4:8:1305:42388:24737,LH00166:186:2372Y3LT4:8:1473:4527:28128,LH00166:186:2372Y3LT4:8:2210:11388:15601,LH00166:186:2372Y3LT4:8:2232:8556:27203,LH00166:186:2372Y3LT4:8:2347:31160:19020,LH00166:186:2372Y3LT4:8:2433:6372:23476 | ONLY_REF_SPLICE | ["INTRACHROMOSOMAL[chr5:0.50Mb]"] | False | chr5:149520290-chr5:150068330 | 83.0 | 8.0 | 91 | 659_db9 | STAR-Fusion |
56 rows