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 AC003070--ERBB2 ERBB2--AC003070 AC003070--ERBB2 FP FP Arriba 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 AC003070 39724986 45382133 chr17:39724986-chr17:45382133 +,- Arriba 1 1 81 82 PASS out-of-frame ERBB2--AC003070 AC003070--ERBB2 confidence:medium;duplicates(97),mismatches(27) medium inversion intron intergenic 1853 7 97.0 27.0 0.0 0.0 78 3 False duplicates(97),mismatches(27) FAIL False chr17:39724986 chr17:45382133 chr17:39724986-chr17:45382133 . . medium 1853 7 downstream downstream 1 confidence_below_min(mediumchr17|-|[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--HAP1 HAP1--ERBB2 ERBB2--HAP1 FP FP Arriba 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 HAP1 ERBB2 41731638 39693261 chr17:41731638-chr17:39693261 -,+ Arriba 1 0 6 6 PASS out-of-frame HAP1--ERBB2 ERBB2--HAP1 confidence:medium;duplicates(1) medium inversion CDS/splice-site 5'UTR/splice-site 381 13 1.0 0.0 0.0 0.0 4 2 False duplicates(1) FAIL False chr17:41731638 chr17:39693261 chr17:41731638-chr17:39693261 . . medium 381 13 upstream upstream 0 confidence_below_min(mediumchr21|-|[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 +,- Arriba 1 0 1 1 PASS out-of-frame DYRK1A--ERG DYRK1A--ERG confidence:low;duplicates(4) low inversion CDS/splice-site CDS/splice-site 775 574 4.0 0.0 0.0 0.0 0 1 False duplicates(4) FAIL False chr21:37420384 chr21:38445621 chr21:37420384-chr21:38445621 . . low 775 574 downstream downstream 0 confidence_below_min(lowchr21|-|[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_LQD fusion PAX3--RPL23AP28 PAX3--RPL23AP28 PAX3--RPL23AP28 FP FP Arriba dev_rna_exp0016 1173_LQD altera_exact 1173 clinical patient skin Skin 62 unknown False 1173_LQD_T1_RNA_SLD_01 tRNA altera_inhouse ssf 69.30 38.00 53.65 AIH_Ext13_RNA D05 False dev_rna_exp0016_lib_s52 200.00 82.54 dev_rna_exp0016 D07 False 1173_LQD_T1_RNA_SLD_01_A23T55JLT4_1 dev_rna_exp0016 1,2,3,4,5,6,7,8 1.00 False nfcore_rnafusion 1173_LQD_T1_RNA_SLD_01_A23T55JLT4_1 BND chr2 chr2 PAX3 RPL23AP28 222220140 222116882 chr2:222220140-chr2:222116882 -,- Arriba 1 0 5 5 PASS out-of-frame PAX3--RPL23AP28 PAX3--RPL23AP28 confidence:low;duplicates(7) low deletion/read-through CDS/splice-site intergenic 5608 12 7.0 0.0 0.0 0.0 4 1 False duplicates(7) FAIL False chr2:222220140 chr2:222116882 chr2:222220140-chr2:222116882 . . low 5608 12 upstream downstream 0 confidence_below_min(lowchr17|-|[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 +,- Arriba 1 0 21 21 PASS in-frame RIN2--ETV4 ETV4--RIN2 confidence:high;duplicates(8) high translocation CDS/splice-site 5'UTR/splice-site 1208 382 8.0 0.0 0.0 0.0 3 18 True duplicates(8) PASS False chr20:19889658 chr17:43545668 chr20:19889658-chr17:43545668 . . high 1208 382 downstream downstream 0 duplicates(8) AGTGGAGCCTCGCTGGGGGAAATGACAGCTTGGACCATGGGCGCCCGCGGTCTGGACAAGCGAGGAAGTTTCTTTAAG|GTCTCGGCCCCCGCTTGGGGCCCCGGCCGTGCGGCCGGAGGGAGCGGCCGGATGGAGCGGAGGATGAAAGCCGGATACTTGGACCAGCAAGTGCCCTACACCTTCAGCAGC___AAATCGCCCGGAAATGGGAGCTTGCGCGAAGCGCTGATCGGCCCGCTGGGGAAGCTCATGGACCCGGGCTCCCTGCCGCCCCTCGACTCTGAAG___ATCTCTTCCAGGATCTAAGT RIN2 ETV4 ENSG00000132669 ENSG00000175832 SGASLGEMTAWTMGARGLDKRGSFFK|vsapawgpgraaggsgrmerrmkagyldqqvpytfsskspgngslrealigplgklMDPGSLPPLDSEDLFQDL LH00995:25:23T55JLT4:2:1316:8936:10598,LH00995:25:23T55JLT4:2:1422:48351:21696,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,LH00995:25:23T55JLT4:5:2126:6250:25479,LH00995:25:23T55JLT4:5:2148:9203:4727,LH00995:25:23T55JLT4:5:2360:20343:7880,LH00995:25:23T55JLT4:6:1471:30326:3985,LH00995:25:23T55JLT4:6:1487:19647:10823,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,LH00995:25:23T55JLT4:8:1118:12925:15152,LH00995:25:23T55JLT4:8:1118:12933:15166,LH00995:25:23T55JLT4:8:1188:31135:19650,LH00995:25:23T55JLT4:8:1346:8613:20491,LH00995:25:23T55JLT4:8:1395:30318:24401,LH00995:25:23T55JLT4:8:2133:38473:16610,LH00995:25:23T55JLT4:8:2363:18337:21304,LH00995:25:23T55JLT4:2:2143:5134:18445,LH00995:25:23T55JLT4:5:2487:1930:18950,LH00995:25:23T55JLT4:6:2308:51401:17002,LH00995:25:23T55JLT4:8:1132:46725:19132 in-frame |Ets-domain(100%),PEA3_subfamily_ETS-domain_transcription_factor_N_terminal_domain(100%) CDS/splice-site 5'UTR/splice-site 3 18 +/+ -/- . 21 ENST00000255006 ENST00000586764 translocation 0.002477291494632535 0.045 0.023738645747316267 1173_NWE Arriba 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 +,- Arriba 1 0 9 9 PASS RIN2--ETV4 ETV4--RIN2 confidence:medium;duplicates(11) medium translocation CDS/splice-site CDS/splice-site 1208 3673 11.0 0.0 0.0 0.0 0 9 duplicates(11) FAIL False chr20:19889658 chr17:43545367 chr20:19889658-chr17:43545367 . . medium 1208 3673 downstream downstream 0 confidence_below_min(mediumchr17|-|[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 -,- Arriba 1 0 10 10 PASS out-of-frame TMEM259--ETV4 ETV4--TMEM259 confidence:medium;duplicates(5) medium translocation CDS/splice-site CDS/splice-site 5602 10369 5.0 0.0 0.0 0.0 2 8 False duplicates(5) FAIL False chr19:1020772 chr17:43536479 chr19:1020772-chr17:43536479 . . medium 5602 10369 upstream downstream 0 confidence_below_min(mediumchr17|-|[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 -,- Arriba 1 0 9 9 PASS out-of-frame TMEM259--ETV4 ETV4--TMEM259 confidence:medium;duplicates(2) medium translocation CDS/splice-site CDS/splice-site 5396 9445 2.0 0.0 0.0 0.0 2 7 False duplicates(2) FAIL False chr19:1020772 chr17:43536479 chr19:1020772-chr17:43536479 . . medium 5396 9445 upstream downstream 0 confidence_below_min(mediumchr17|-|[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 +,+ Arriba 1 0 29 29 PASS in-frame FGFR3--TACC3 FGFR3--TACC3 confidence:high;duplicates(23) high duplication CDS/splice-site CDS/splice-site 256 882 23.0 0.0 0.0 0.0 8 21 True duplicates(23) PASS False chr4:1806934 chr4:1739702 chr4:1806934-chr4:1739702 . . high 256 882 downstream upstream 0 duplicates(23) TGCACACACGACCT___GTACATGATCATGCGGGAGTGCTGGCATGCCGCGCCCTCCCAGAGGCCCACCTTCAAGCAGCTGGTGGAGGACCTGGACCGTGTCCTTACCGTGACGTCCACCGAC|GTAAAGGCGACACAGGAGGAGAACCGGGAGCTGAGGAGCAGGTGTGAGGAGCTCCACGGGAAGAACCTGGAACTGGG___GAAGATCATGGACAGGTTCGAAGAGGTTGTGTACCAGGCCATGG___AGGAAGTTCAGAAGCAGAAGGAACTTTCCAAAGCTGAAATCCAGAAAGTTCTAAAA FGFR3 TACC3 ENSG00000068078 ENSG00000013810 CTHDLYMIMRECWHAAPSQRPTFKQLVEDLDRVLTVTSTD|VKATQEENRELRSRCEELHGKNLELGKIMDRFEEVVYQAMEEVQKQKELSKAEIQKVL LH00995:25:23T55JLT4:1:1274:4325:19762,LH00995:25:23T55JLT4:1:2240:21427:11551,LH00995:25:23T55JLT4:1:2260:19656:21150,LH00995:25:23T55JLT4:1:2260:19664:21164,LH00995:25:23T55JLT4:1:2437:11711:1112,LH00995:25:23T55JLT4:2:1386:11032:24933,LH00995:25:23T55JLT4:2:1425:5538:15279,LH00995:25:23T55JLT4:2:2125:13968:16960,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,LH00995:25:23T55JLT4:3:1328:17690:29263,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,LH00995:25:23T55JLT4:5:2155:2497:2079,LH00995:25:23T55JLT4:6:2126:41499:4167,LH00995:25:23T55JLT4:6:2143:24348:3999,LH00995:25:23T55JLT4:6:2429:3451:6899,LH00995:25:23T55JLT4:7:1135:7731:6913,LH00995:25:23T55JLT4:7:1353:32300:15979,LH00995:25:23T55JLT4:7:2203:50624:27091,LH00995:25:23T55JLT4:7:2221:9721:4587,LH00995:25:23T55JLT4:7:2266:6954:24905,LH00995:25:23T55JLT4:7:2359:25885:11201,LH00995:25:23T55JLT4:7:2372:5158:25465,LH00995:25:23T55JLT4:8:1184:41749:21864,LH00995:25:23T55JLT4:8:1194:30917:29109,LH00995:25:23T55JLT4:8:1194:30925:29095,LH00995:25:23T55JLT4:8:1294:23070:28044,LH00995:25:23T55JLT4:8:1470:26030:14059,LH00995:25:23T55JLT4:8:1470:26039:14073,LH00995:25:23T55JLT4:8:1470:26047:14059,LH00995:25:23T55JLT4:8:2329:37138:15783,LH00995:25:23T55JLT4:1:1425:14009:16694,LH00995:25:23T55JLT4:1:2155:38578:9786,LH00995:25:23T55JLT4:1:2326:43003:28969,LH00995:25:23T55JLT4:1:2397:12876:7418,LH00995:25:23T55JLT4:2:2251:43934:10010,LH00995:25:23T55JLT4:2:2275:4374:25283,LH00995:25:23T55JLT4:3:1313:9292:23518,LH00995:25:23T55JLT4:3:2158:23862:16722,LH00995:25:23T55JLT4:4:1149:34468:10907,LH00995:25:23T55JLT4:4:1429:11032:26334,LH00995:25:23T55JLT4:5:1356:18604:25493,LH00995:25:23T55JLT4:6:1253:27228:1364,LH00995:25:23T55JLT4:6:1374:35010:17282,LH00995:25:23T55JLT4:6:2333:44395:8763 in-frame Immunoglobulin_I-set_domain(100%),Immunoglobulin_domain(100%),NA(100%),Protein_kinase_domain(100%)|Transforming_acidic_coiled-coil-containing_protein_(TACC)__C-terminal(95%) CDS/splice-site CDS/splice-site 8 21 +/+ +/+ . 29 ENST00000412135 ENST00000651472 duplication 0.030303030303030304 0.023255813953488372 0.026779422128259338 1173_PCB Arriba 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 +,+ Arriba 1 0 40 40 PASS in-frame FGFR3--TACC3 FGFR3--TACC3 confidence:high;duplicates(120) high duplication CDS/splice-site CDS/splice-site 831 3038 120.0 0.0 0.0 0.0 19 21 True duplicates(120) PASS False chr4:1806934 chr4:1739702 chr4:1806934-chr4:1739702 . . high 831 3038 downstream upstream 0 duplicates(120) ACACACGACCT___GTACATGATCATGCGGGAGTGCTGGCATGCCGCGCCCTCCCAGAGGCCCACCTTCAAGCAGCTGGTGGAGGACCTGGACCGTGTCCTTACCGTGACGTCCACCGAC|GTAAAGGCGACACAGGAGGAGAACCGGGAGCTGAGGAGCAGGTGTGAGGAGCTCCACGGGAAGAACCTGGAACTGGG___GAAGATCATGGACAGGTTCGAAGAGGTTGTGTACCAGGCCATGG___AGGAAGTTCAGAAGCAGAAGGAACT FGFR3 TACC3 ENSG00000068078 ENSG00000013810 THDLYMIMRECWHAAPSQRPTFKQLVEDLDRVLTVTSTD|VKATQEENRELRSRCEELHGKNLELGKIMDRFEEVVYQAMEEVQKQKE LH00995:25:23T55JLT4:1:1172:43553:20449,LH00995:25:23T55JLT4:1:1181:14535:26040,LH00995:25:23T55JLT4:1:1290:34946:20869,LH00995:25:23T55JLT4:1:1343:15918:23223,LH00995:25:23T55JLT4:1:1343:15934:23223,LH00995:25:23T55JLT4:1:1357:50098:3284,LH00995:25:23T55JLT4:1:1357:50106:3298,LH00995:25:23T55JLT4:1:1409:49071:13359,LH00995:25:23T55JLT4:1:1413:34873:2695,LH00995:25:23T55JLT4:1:1465:34582:4881,LH00995:25:23T55JLT4:1:2129:44953:11411,LH00995:25:23T55JLT4:1:2192:27624:12056,LH00995:25:23T55JLT4:1:2218:50948:12406,LH00995:25:23T55JLT4:1:2336:33595:22509,LH00995:25:23T55JLT4:1:2360:32130:23448,LH00995:25:23T55JLT4:2:1135:8839:13765,LH00995:25:23T55JLT4:2:1135:8847:13751,LH00995:25:23T55JLT4:2:1138:41507:22929,LH00995:25:23T55JLT4:2:1281:48949:28842,LH00995:25:23T55JLT4:2:1288:22673:28590,LH00995:25:23T55JLT4:2:1333:46959:26657,LH00995:25:23T55JLT4:2:1377:2877:14396,LH00995:25:23T55JLT4:2:1396:42761:24260,LH00995:25:23T55JLT4:2:1406:9495:2121,LH00995:25:23T55JLT4:2:2245:15732:16147,LH00995:25:23T55JLT4:2:2384:41151:20155,LH00995:25:23T55JLT4:2:2460:27381:27749,LH00995:25:23T55JLT4:3:1126:40495:15657,LH00995:25:23T55JLT4:3:1227:39767:9379,LH00995:25:23T55JLT4:3:1282:5466:24709,LH00995:25:23T55JLT4:3:1317:5450:8903,LH00995:25:23T55JLT4:3:1332:47809:10024,LH00995:25:23T55JLT4:3:1341:12755:4909,LH00995:25:23T55JLT4:3:1379:43764:24737,LH00995:25:23T55JLT4:3:1379:43772:24751,LH00995:25:23T55JLT4:3:1396:26071:6927,LH00995:25:23T55JLT4:3:1420:22341:18207,LH00995:25:23T55JLT4:3:1420:48221:27862,LH00995:25:23T55JLT4:3:1435:41539:10514,LH00995:25:23T55JLT4:3:1438:48569:15489,LH00995:25:23T55JLT4:3:1477:49419:13597,LH00995:25:23T55JLT4:3:2130:17447:28674,LH00995:25:23T55JLT4:3:2248:15077:12070,LH00995:25:23T55JLT4:3:2284:31645:2597,LH00995:25:23T55JLT4:3:2337:35318:23083,LH00995:25:23T55JLT4:3:2363:37292:12658,LH00995:25:23T55JLT4:3:2421:32227:29445,LH00995:25:23T55JLT4:3:2427:44872:10318,LH00995:25:23T55JLT4:3:2448:18895:9239,LH00995:25:23T55JLT4:3:2455:38109:29683,LH00995:25:23T55JLT4:4:1145:5967:29305,LH00995:25:23T55JLT4:4:1160:8710:24947,LH00995:25:23T55JLT4:4:1169:16015:17731,LH00995:25:23T55JLT4:4:1201:18264:8763,LH00995:25:23T55JLT4:4:1231:45171:2653,LH00995:25:23T55JLT4:4:1364:22220:16484,LH00995:25:23T55JLT4:4:2131:26176:17478,LH00995:25:23T55JLT4:4:2148:37276:15068,LH00995:25:23T55JLT4:4:2212:3144:10038,LH00995:25:23T55JLT4:4:2214:3888:24330,LH00995:25:23T55JLT4:4:2326:44815:24933,LH00995:25:23T55JLT4:4:2331:37009:4994,LH00995:25:23T55JLT4:5:2204:16500:19861,LH00995:25:23T55JLT4:5:2364:2723:14382,LH00995:25:23T55JLT4:5:2381:37178:23700,LH00995:25:23T55JLT4:6:1148:8362:3606,LH00995:25:23T55JLT4:6:1201:40277:6171,LH00995:25:23T55JLT4:6:1211:31685:15166,LH00995:25:23T55JLT4:6:1242:50139:21766,LH00995:25:23T55JLT4:6:1246:23749:8595,LH00995:25:23T55JLT4:6:2409:35471:2107,LH00995:25:23T55JLT4:6:2450:14680:2471,LH00995:25:23T55JLT4:7:1139:37931:10290,LH00995:25:23T55JLT4:7:1198:43990:2990,LH00995:25:23T55JLT4:7:1220:1210:7278,LH00995:25:23T55JLT4:7:1234:40455:16231,LH00995:25:23T55JLT4:7:1280:26168:20463,LH00995:25:23T55JLT4:7:1401:18021:6801,LH00995:25:23T55JLT4:7:1411:51740:11705,LH00995:25:23T55JLT4:7:1426:12358:11509,LH00995:25:23T55JLT4:7:1468:10732:28898,LH00995:25:23T55JLT4:7:2166:49548:4041,LH00995:25:23T55JLT4:7:2167:37429:1518,LH00995:25:23T55JLT4:7:2188:12698:5316,LH00995:25:23T55JLT4:7:2398:34501:26797,LH00995:25:23T55JLT4:7:2408:25416:11817,LH00995:25:23T55JLT4:7:2481:11315:19370,LH00995:25:23T55JLT4:8:1276:28385:14438,LH00995:25:23T55JLT4:8:1276:30391:27385,LH00995:25:23T55JLT4:8:1276:9729:22173,LH00995:25:23T55JLT4:8:1297:32850:1126,LH00995:25:23T55JLT4:8:1337:31807:27707,LH00995:25:23T55JLT4:8:1460:14098:7852,LH00995:25:23T55JLT4:8:1476:7140:20631,LH00995:25:23T55JLT4:1:1392:44921:28926,LH00995:25:23T55JLT4:1:1394:18491:15797,LH00995:25:23T55JLT4:1:2141:16953:20757,LH00995:25:23T55JLT4:1:2147:21767:2780,LH00995:25:23T55JLT4:1:2221:13693:24807,LH00995:25:23T55JLT4:1:2235:4406:2443,LH00995:25:23T55JLT4:1:2378:5490:13933,LH00995:25:23T55JLT4:1:2420:22058:2892,LH00995:25:23T55JLT4:1:2488:9486:11719,LH00995:25:23T55JLT4:2:1150:37276:15489,LH00995:25:23T55JLT4:2:1322:28619:13975,LH00995:25:23T55JLT4:2:1421:44597:24218,LH00995:25:23T55JLT4:2:1459:22083:18655,LH00995:25:23T55JLT4:2:2109:25917:23223,LH00995:25:23T55JLT4:2:2110:29113:15503,LH00995:25:23T55JLT4:2:2285:38821:4881,LH00995:25:23T55JLT4:2:2364:37267:25087,LH00995:25:23T55JLT4:2:2491:30496:10977,LH00995:25:23T55JLT4:3:1268:5692:7249,LH00995:25:23T55JLT4:3:1369:35285:5960,LH00995:25:23T55JLT4:3:2111:4956:19847,LH00995:25:23T55JLT4:3:2192:24485:20939,LH00995:25:23T55JLT4:3:2228:46021:18529,LH00995:25:23T55JLT4:3:2387:16015:21906,LH00995:25:23T55JLT4:4:1177:51700:16680,LH00995:25:23T55JLT4:4:1230:42364:6367,LH00995:25:23T55JLT4:4:1411:8111:24695,LH00995:25:23T55JLT4:4:2175:6250:12868,LH00995:25:23T55JLT4:4:2278:17762:17899,LH00995:25:23T55JLT4:4:2310:2456:24821,LH00995:25:23T55JLT4:4:2422:42955:27035,LH00995:25:23T55JLT4:5:1145:27770:28926,LH00995:25:23T55JLT4:5:1178:16314:8721,LH00995:25:23T55JLT4:5:1290:39080:26572,LH00995:25:23T55JLT4:5:1343:6226:26194,LH00995:25:23T55JLT4:5:1352:6809:28240,LH00995:25:23T55JLT4:5:1353:4535:9113,LH00995:25:23T55JLT4:5:1487:35593:19664,LH00995:25:23T55JLT4:5:2102:32551:27904,LH00995:25:23T55JLT4:5:2153:7035:29109,LH00995:25:23T55JLT4:5:2162:8087:9632,LH00995:25:23T55JLT4:5:2216:24971:7488,LH00995:25:23T55JLT4:5:2252:24938:17633,LH00995:25:23T55JLT4:5:2252:25399:18067,LH00995:25:23T55JLT4:5:2418:14348:4923,LH00995:25:23T55JLT4:5:2456:38028:21276,LH00995:25:23T55JLT4:5:2468:22123:23462,LH00995:25:23T55JLT4:6:1195:11671:13177,LH00995:25:23T55JLT4:6:1246:40245:24779,LH00995:25:23T55JLT4:6:1330:43642:18782,LH00995:25:23T55JLT4:6:1462:50001:9505,LH00995:25:23T55JLT4:6:2371:35253:28716,LH00995:25:23T55JLT4:6:2432:32324:9716,LH00995:25:23T55JLT4:6:2451:51619:26909,LH00995:25:23T55JLT4:7:1339:38578:15699,LH00995:25:23T55JLT4:7:1446:13863:1981,LH00995:25:23T55JLT4:7:2150:22900:8048,LH00995:25:23T55JLT4:8:1104:31580:8651,LH00995:25:23T55JLT4:8:1258:12520:22327,LH00995:25:23T55JLT4:8:1261:46207:17086,LH00995:25:23T55JLT4:8:1272:49402:3929,LH00995:25:23T55JLT4:8:1277:15311:15895,LH00995:25:23T55JLT4:8:1404:31143:28184,LH00995:25:23T55JLT4:8:2212:24057:6493,LH00995:25:23T55JLT4:8:2220:41652:25704,LH00995:25:23T55JLT4:8:2411:25925:23097 in-frame Immunoglobulin_I-set_domain(100%),Immunoglobulin_domain(100%),NA(100%),Protein_kinase_domain(100%)|Transforming_acidic_coiled-coil-containing_protein_(TACC)__C-terminal(95%) CDS/splice-site CDS/splice-site 19 21 +/+ +/+ . 40 ENST00000412135 ENST00000651472 duplication 0.02235294117647059 0.006864988558352402 0.014608964867411495 1173_PCB Arriba 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 +,+ Arriba 1 0 40 40 PASS in-frame FGFR3--TACC3 FGFR3--TACC3 confidence:high;duplicates(120) high duplication CDS/splice-site CDS/splice-site 831 3038 120.0 0.0 0.0 0.0 19 21 True duplicates(120) PASS False chr4:1806934 chr4:1739702 chr4:1806934-chr4:1739702 . . high 831 3038 downstream upstream 0 duplicates(120) ACACACGACCT___GTACATGATCATGCGGGAGTGCTGGCATGCCGCGCCCTCCCAGAGGCCCACCTTCAAGCAGCTGGTGGAGGACCTGGACCGTGTCCTTACCGTGACGTCCACCGAC|GTAAAGGCGACACAGGAGGAGAACCGGGAGCTGAGGAGCAGGTGTGAGGAGCTCCACGGGAAGAACCTGGAACTGGG___GAAGATCATGGACAGGTTCGAAGAGGTTGTGTACCAGGCCATGG___AGGAAGTTCAGAAGCAGAAGGAACT FGFR3 TACC3 ENSG00000068078 ENSG00000013810 THDLYMIMRECWHAAPSQRPTFKQLVEDLDRVLTVTSTD|VKATQEENRELRSRCEELHGKNLELGKIMDRFEEVVYQAMEEVQKQKE LH00995:25:23T55JLT4:1:1172:43553:20449,LH00995:25:23T55JLT4:1:1181:14535:26040,LH00995:25:23T55JLT4:1:1290:34946:20869,LH00995:25:23T55JLT4:1:1343:15918:23223,LH00995:25:23T55JLT4:1:1343:15934:23223,LH00995:25:23T55JLT4:1:1357:50098:3284,LH00995:25:23T55JLT4:1:1357:50106:3298,LH00995:25:23T55JLT4:1:1409:49071:13359,LH00995:25:23T55JLT4:1:1413:34873:2695,LH00995:25:23T55JLT4:1:1465:34582:4881,LH00995:25:23T55JLT4:1:2129:44953:11411,LH00995:25:23T55JLT4:1:2192:27624:12056,LH00995:25:23T55JLT4:1:2218:50948:12406,LH00995:25:23T55JLT4:1:2336:33595:22509,LH00995:25:23T55JLT4:1:2360:32130:23448,LH00995:25:23T55JLT4:2:1135:8839:13765,LH00995:25:23T55JLT4:2:1135:8847:13751,LH00995:25:23T55JLT4:2:1138:41507:22929,LH00995:25:23T55JLT4:2:1281:48949:28842,LH00995:25:23T55JLT4:2:1288:22673:28590,LH00995:25:23T55JLT4:2:1333:46959:26657,LH00995:25:23T55JLT4:2:1377:2877:14396,LH00995:25:23T55JLT4:2:1396:42761:24260,LH00995:25:23T55JLT4:2:1406:9495:2121,LH00995:25:23T55JLT4:2:2245:15732:16147,LH00995:25:23T55JLT4:2:2384:41151:20155,LH00995:25:23T55JLT4:2:2460:27381:27749,LH00995:25:23T55JLT4:3:1126:40495:15657,LH00995:25:23T55JLT4:3:1227:39767:9379,LH00995:25:23T55JLT4:3:1282:5466:24709,LH00995:25:23T55JLT4:3:1317:5450:8903,LH00995:25:23T55JLT4:3:1332:47809:10024,LH00995:25:23T55JLT4:3:1341:12755:4909,LH00995:25:23T55JLT4:3:1379:43764:24737,LH00995:25:23T55JLT4:3:1379:43772:24751,LH00995:25:23T55JLT4:3:1396:26071:6927,LH00995:25:23T55JLT4:3:1420:22341:18207,LH00995:25:23T55JLT4:3:1420:48221:27862,LH00995:25:23T55JLT4:3:1435:41539:10514,LH00995:25:23T55JLT4:3:1438:48569:15489,LH00995:25:23T55JLT4:3:1477:49419:13597,LH00995:25:23T55JLT4:3:2130:17447:28674,LH00995:25:23T55JLT4:3:2248:15077:12070,LH00995:25:23T55JLT4:3:2284:31645:2597,LH00995:25:23T55JLT4:3:2337:35318:23083,LH00995:25:23T55JLT4:3:2363:37292:12658,LH00995:25:23T55JLT4:3:2421:32227:29445,LH00995:25:23T55JLT4:3:2427:44872:10318,LH00995:25:23T55JLT4:3:2448:18895:9239,LH00995:25:23T55JLT4:3:2455:38109:29683,LH00995:25:23T55JLT4:4:1145:5967:29305,LH00995:25:23T55JLT4:4:1160:8710:24947,LH00995:25:23T55JLT4:4:1169:16015:17731,LH00995:25:23T55JLT4:4:1201:18264:8763,LH00995:25:23T55JLT4:4:1231:45171:2653,LH00995:25:23T55JLT4:4:1364:22220:16484,LH00995:25:23T55JLT4:4:2131:26176:17478,LH00995:25:23T55JLT4:4:2148:37276:15068,LH00995:25:23T55JLT4:4:2212:3144:10038,LH00995:25:23T55JLT4:4:2214:3888:24330,LH00995:25:23T55JLT4:4:2326:44815:24933,LH00995:25:23T55JLT4:4:2331:37009:4994,LH00995:25:23T55JLT4:5:2204:16500:19861,LH00995:25:23T55JLT4:5:2364:2723:14382,LH00995:25:23T55JLT4:5:2381:37178:23700,LH00995:25:23T55JLT4:6:1148:8362:3606,LH00995:25:23T55JLT4:6:1201:40277:6171,LH00995:25:23T55JLT4:6:1211:31685:15166,LH00995:25:23T55JLT4:6:1242:50139:21766,LH00995:25:23T55JLT4:6:1246:23749:8595,LH00995:25:23T55JLT4:6:2409:35471:2107,LH00995:25:23T55JLT4:6:2450:14680:2471,LH00995:25:23T55JLT4:7:1139:37931:10290,LH00995:25:23T55JLT4:7:1198:43990:2990,LH00995:25:23T55JLT4:7:1220:1210:7278,LH00995:25:23T55JLT4:7:1234:40455:16231,LH00995:25:23T55JLT4:7:1280:26168:20463,LH00995:25:23T55JLT4:7:1401:18021:6801,LH00995:25:23T55JLT4:7:1411:51740:11705,LH00995:25:23T55JLT4:7:1426:12358:11509,LH00995:25:23T55JLT4:7:1468:10732:28898,LH00995:25:23T55JLT4:7:2166:49548:4041,LH00995:25:23T55JLT4:7:2167:37429:1518,LH00995:25:23T55JLT4:7:2188:12698:5316,LH00995:25:23T55JLT4:7:2398:34501:26797,LH00995:25:23T55JLT4:7:2408:25416:11817,LH00995:25:23T55JLT4:7:2481:11315:19370,LH00995:25:23T55JLT4:8:1276:28385:14438,LH00995:25:23T55JLT4:8:1276:30391:27385,LH00995:25:23T55JLT4:8:1276:9729:22173,LH00995:25:23T55JLT4:8:1297:32850:1126,LH00995:25:23T55JLT4:8:1337:31807:27707,LH00995:25:23T55JLT4:8:1460:14098:7852,LH00995:25:23T55JLT4:8:1476:7140:20631,LH00995:25:23T55JLT4:1:1392:44921:28926,LH00995:25:23T55JLT4:1:1394:18491:15797,LH00995:25:23T55JLT4:1:2141:16953:20757,LH00995:25:23T55JLT4:1:2147:21767:2780,LH00995:25:23T55JLT4:1:2221:13693:24807,LH00995:25:23T55JLT4:1:2235:4406:2443,LH00995:25:23T55JLT4:1:2378:5490:13933,LH00995:25:23T55JLT4:1:2420:22058:2892,LH00995:25:23T55JLT4:1:2488:9486:11719,LH00995:25:23T55JLT4:2:1150:37276:15489,LH00995:25:23T55JLT4:2:1322:28619:13975,LH00995:25:23T55JLT4:2:1421:44597:24218,LH00995:25:23T55JLT4:2:1459:22083:18655,LH00995:25:23T55JLT4:2:2109:25917:23223,LH00995:25:23T55JLT4:2:2110:29113:15503,LH00995:25:23T55JLT4:2:2285:38821:4881,LH00995:25:23T55JLT4:2:2364:37267:25087,LH00995:25:23T55JLT4:2:2491:30496:10977,LH00995:25:23T55JLT4:3:1268:5692:7249,LH00995:25:23T55JLT4:3:1369:35285:5960,LH00995:25:23T55JLT4:3:2111:4956:19847,LH00995:25:23T55JLT4:3:2192:24485:20939,LH00995:25:23T55JLT4:3:2228:46021:18529,LH00995:25:23T55JLT4:3:2387:16015:21906,LH00995:25:23T55JLT4:4:1177:51700:16680,LH00995:25:23T55JLT4:4:1230:42364:6367,LH00995:25:23T55JLT4:4:1411:8111:24695,LH00995:25:23T55JLT4:4:2175:6250:12868,LH00995:25:23T55JLT4:4:2278:17762:17899,LH00995:25:23T55JLT4:4:2310:2456:24821,LH00995:25:23T55JLT4:4:2422:42955:27035,LH00995:25:23T55JLT4:5:1145:27770:28926,LH00995:25:23T55JLT4:5:1178:16314:8721,LH00995:25:23T55JLT4:5:1290:39080:26572,LH00995:25:23T55JLT4:5:1343:6226:26194,LH00995:25:23T55JLT4:5:1352:6809:28240,LH00995:25:23T55JLT4:5:1353:4535:9113,LH00995:25:23T55JLT4:5:1487:35593:19664,LH00995:25:23T55JLT4:5:2102:32551:27904,LH00995:25:23T55JLT4:5:2153:7035:29109,LH00995:25:23T55JLT4:5:2162:8087:9632,LH00995:25:23T55JLT4:5:2216:24971:7488,LH00995:25:23T55JLT4:5:2252:24938:17633,LH00995:25:23T55JLT4:5:2252:25399:18067,LH00995:25:23T55JLT4:5:2418:14348:4923,LH00995:25:23T55JLT4:5:2456:38028:21276,LH00995:25:23T55JLT4:5:2468:22123:23462,LH00995:25:23T55JLT4:6:1195:11671:13177,LH00995:25:23T55JLT4:6:1246:40245:24779,LH00995:25:23T55JLT4:6:1330:43642:18782,LH00995:25:23T55JLT4:6:1462:50001:9505,LH00995:25:23T55JLT4:6:2371:35253:28716,LH00995:25:23T55JLT4:6:2432:32324:9716,LH00995:25:23T55JLT4:6:2451:51619:26909,LH00995:25:23T55JLT4:7:1339:38578:15699,LH00995:25:23T55JLT4:7:1446:13863:1981,LH00995:25:23T55JLT4:7:2150:22900:8048,LH00995:25:23T55JLT4:8:1104:31580:8651,LH00995:25:23T55JLT4:8:1258:12520:22327,LH00995:25:23T55JLT4:8:1261:46207:17086,LH00995:25:23T55JLT4:8:1272:49402:3929,LH00995:25:23T55JLT4:8:1277:15311:15895,LH00995:25:23T55JLT4:8:1404:31143:28184,LH00995:25:23T55JLT4:8:2212:24057:6493,LH00995:25:23T55JLT4:8:2220:41652:25704,LH00995:25:23T55JLT4:8:2411:25925:23097 in-frame Immunoglobulin_I-set_domain(100%),Immunoglobulin_domain(100%),NA(100%),Protein_kinase_domain(100%)|Transforming_acidic_coiled-coil-containing_protein_(TACC)__C-terminal(95%) CDS/splice-site CDS/splice-site 19 21 +/+ +/+ . 40 ENST00000412135 ENST00000651472 duplication 0.02235294117647059 0.006864988558352402 0.014608964867411495 1173_PCB Arriba 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 +,+ Arriba 1 0 29 29 PASS in-frame FGFR3--TACC3 FGFR3--TACC3 confidence:high;duplicates(23) high duplication CDS/splice-site CDS/splice-site 256 882 23.0 0.0 0.0 0.0 8 21 True duplicates(23) PASS False chr4:1806934 chr4:1739702 chr4:1806934-chr4:1739702 . . high 256 882 downstream upstream 0 duplicates(23) TGCACACACGACCT___GTACATGATCATGCGGGAGTGCTGGCATGCCGCGCCCTCCCAGAGGCCCACCTTCAAGCAGCTGGTGGAGGACCTGGACCGTGTCCTTACCGTGACGTCCACCGAC|GTAAAGGCGACACAGGAGGAGAACCGGGAGCTGAGGAGCAGGTGTGAGGAGCTCCACGGGAAGAACCTGGAACTGGG___GAAGATCATGGACAGGTTCGAAGAGGTTGTGTACCAGGCCATGG___AGGAAGTTCAGAAGCAGAAGGAACTTTCCAAAGCTGAAATCCAGAAAGTTCTAAAA FGFR3 TACC3 ENSG00000068078 ENSG00000013810 CTHDLYMIMRECWHAAPSQRPTFKQLVEDLDRVLTVTSTD|VKATQEENRELRSRCEELHGKNLELGKIMDRFEEVVYQAMEEVQKQKELSKAEIQKVL LH00995:25:23T55JLT4:1:1274:4325:19762,LH00995:25:23T55JLT4:1:2240:21427:11551,LH00995:25:23T55JLT4:1:2260:19656:21150,LH00995:25:23T55JLT4:1:2260:19664:21164,LH00995:25:23T55JLT4:1:2437:11711:1112,LH00995:25:23T55JLT4:2:1386:11032:24933,LH00995:25:23T55JLT4:2:1425:5538:15279,LH00995:25:23T55JLT4:2:2125:13968:16960,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,LH00995:25:23T55JLT4:3:1328:17690:29263,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,LH00995:25:23T55JLT4:5:2155:2497:2079,LH00995:25:23T55JLT4:6:2126:41499:4167,LH00995:25:23T55JLT4:6:2143:24348:3999,LH00995:25:23T55JLT4:6:2429:3451:6899,LH00995:25:23T55JLT4:7:1135:7731:6913,LH00995:25:23T55JLT4:7:1353:32300:15979,LH00995:25:23T55JLT4:7:2203:50624:27091,LH00995:25:23T55JLT4:7:2221:9721:4587,LH00995:25:23T55JLT4:7:2266:6954:24905,LH00995:25:23T55JLT4:7:2359:25885:11201,LH00995:25:23T55JLT4:7:2372:5158:25465,LH00995:25:23T55JLT4:8:1184:41749:21864,LH00995:25:23T55JLT4:8:1194:30917:29109,LH00995:25:23T55JLT4:8:1194:30925:29095,LH00995:25:23T55JLT4:8:1294:23070:28044,LH00995:25:23T55JLT4:8:1470:26030:14059,LH00995:25:23T55JLT4:8:1470:26039:14073,LH00995:25:23T55JLT4:8:1470:26047:14059,LH00995:25:23T55JLT4:8:2329:37138:15783,LH00995:25:23T55JLT4:1:1425:14009:16694,LH00995:25:23T55JLT4:1:2155:38578:9786,LH00995:25:23T55JLT4:1:2326:43003:28969,LH00995:25:23T55JLT4:1:2397:12876:7418,LH00995:25:23T55JLT4:2:2251:43934:10010,LH00995:25:23T55JLT4:2:2275:4374:25283,LH00995:25:23T55JLT4:3:1313:9292:23518,LH00995:25:23T55JLT4:3:2158:23862:16722,LH00995:25:23T55JLT4:4:1149:34468:10907,LH00995:25:23T55JLT4:4:1429:11032:26334,LH00995:25:23T55JLT4:5:1356:18604:25493,LH00995:25:23T55JLT4:6:1253:27228:1364,LH00995:25:23T55JLT4:6:1374:35010:17282,LH00995:25:23T55JLT4:6:2333:44395:8763 in-frame Immunoglobulin_I-set_domain(100%),Immunoglobulin_domain(100%),NA(100%),Protein_kinase_domain(100%)|Transforming_acidic_coiled-coil-containing_protein_(TACC)__C-terminal(95%) CDS/splice-site CDS/splice-site 8 21 +/+ +/+ . 29 ENST00000412135 ENST00000651472 duplication 0.030303030303030304 0.023255813953488372 0.026779422128259338 1173_PCB Arriba 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 -,- Arriba 1 0 6 6 PASS TMPRSS2--ERG ERG--TMPRSS2 confidence:medium;duplicates(6) medium deletion 5'UTR/splice-site 5'UTR/splice-site 10 652 6.0 0.0 0.0 0.0 0 6 duplicates(6) FAIL False chr21:41508081 chr21:38584945 chr21:41508081-chr21:38584945 . . medium 10 652 upstream downstream 0 confidence_below_min(mediumchr1|+|[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_2 BND chr1 chr1 AKT3 SDCCAG8 243843125 243372345 chr1:243843125-chr1:243372345 -,- Arriba 1 0 1 1 PASS out-of-frame AKT3--SDCCAG8 AKT3--SDCCAG8 confidence:low;duplicates(7) low deletion/5'-5' CDS/splice-site intron 7977 0 7.0 0.0 0.0 0.0 1 0 False duplicates(7) FAIL False chr1:243843125 chr1:243372345 chr1:243843125-chr1:243372345 . . low 7977 0 upstream downstream 0 confidence_below_min(lowchr1|+|[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_1 BND chr1 chr1 SDCCAG8 AKT3 243256240 243843282 chr1:243256240-chr1:243843282 +,- Arriba 1 0 4 4 PASS out-of-frame SDCCAG8--AKT3 AKT3--SDCCAG8 confidence:high;duplicates(18) high inversion CDS/splice-site 5'UTR/splice-site 551 1154 18.0 0.0 0.0 0.0 2 2 False duplicates(18) FAIL False chr1:243256240 chr1:243843282 chr1:243256240-chr1:243843282 . . high 551 1154 downstream downstream 0 total_reads_below_min(4.0<8.0) duplicates(18) GAGTGCGTGCATGGCGAAGTCCCCGGAGAACTCTACCCTGGAGGAGATTCTGGGGCAGTATCAACGGAGTCTCCGGG|GCTGAGTCATCACTAGAGAGTGGGAAGGGCAGCAGCAGCAGAGAATCCAAACCCTAAAGCTGATATCACAAAGTACCATTTCTCCAAGTTGGGGGCTCAGAGGGGAGTCATCATGAGCGATGTTACCATTGTGAAAGAAGG SDCCAG8 AKT3 ENSG00000054282 ENSG00000117020 MAKSPENSTLEEILGQYQRSLR|g* LH00995:25:23T55JLT4:2:1139:6590:19875,LH00995:25:23T55JLT4:3:1153:22536:8342,LH00995:25:23T55JLT4:3:1274:48828:17955,LH00995:25:23T55JLT4:3:1346:32907:26811,LH00995:25:23T55JLT4:4:1343:3637:9716,LH00995:25:23T55JLT4:6:2296:40253:16778,LH00995:25:23T55JLT4:1:1165:42615:21318,LH00995:25:23T55JLT4:2:1197:51166:21836,LH00995:25:23T55JLT4:2:2213:12391:9239,LH00995:25:23T55JLT4:3:2222:14656:17927,LH00995:25:23T55JLT4:3:2424:17156:14802,LH00995:25:23T55JLT4:4:2414:14672:23223,LH00995:25:23T55JLT4:5:1138:50551:9057,LH00995:25:23T55JLT4:5:1221:24364:20309,LH00995:25:23T55JLT4:5:1438:7213:20841,LH00995:25:23T55JLT4:8:1177:21848:14410,LH00995:25:23T55JLT4:8:1177:21856:14396,LH00995:25:23T55JLT4:8:1177:21856:14424,LH00995:25:23T55JLT4:8:1421:32915:28058,LH00995:25:23T55JLT4:8:1421:32923:28072,LH00995:25:23T55JLT4:8:2112:41863:10430,LH00995:25:23T55JLT4:8:2319:46547:17422 out-of-frame Centrosomal_colon_cancer_autoantigen_protein_family(2%)|PH_domain(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) CDS/splice-site 5'UTR/splice-site 2 2 +/+ -/- . 4 ENST00000366541 ENST00000673466 inversion 0.003616636528028933 0.0017301038062283738 0.0026733701671286534 1173_RQT Arriba 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_1 BND chr1 chr1 SDCCAG8 AKT3 243256240 243843282 chr1:243256240-chr1:243843282 +,- Arriba 1 0 4 4 PASS out-of-frame SDCCAG8--AKT3 AKT3--SDCCAG8 confidence:high;duplicates(18) high inversion CDS/splice-site 5'UTR/splice-site 551 1154 18.0 0.0 0.0 0.0 2 2 False duplicates(18) FAIL False chr1:243256240 chr1:243843282 chr1:243256240-chr1:243843282 . . high 551 1154 downstream downstream 0 total_reads_below_min(4.0<8.0) duplicates(18) GAGTGCGTGCATGGCGAAGTCCCCGGAGAACTCTACCCTGGAGGAGATTCTGGGGCAGTATCAACGGAGTCTCCGGG|GCTGAGTCATCACTAGAGAGTGGGAAGGGCAGCAGCAGCAGAGAATCCAAACCCTAAAGCTGATATCACAAAGTACCATTTCTCCAAGTTGGGGGCTCAGAGGGGAGTCATCATGAGCGATGTTACCATTGTGAAAGAAGG SDCCAG8 AKT3 ENSG00000054282 ENSG00000117020 MAKSPENSTLEEILGQYQRSLR|g* LH00995:25:23T55JLT4:2:1139:6590:19875,LH00995:25:23T55JLT4:3:1153:22536:8342,LH00995:25:23T55JLT4:3:1274:48828:17955,LH00995:25:23T55JLT4:3:1346:32907:26811,LH00995:25:23T55JLT4:4:1343:3637:9716,LH00995:25:23T55JLT4:6:2296:40253:16778,LH00995:25:23T55JLT4:1:1165:42615:21318,LH00995:25:23T55JLT4:2:1197:51166:21836,LH00995:25:23T55JLT4:2:2213:12391:9239,LH00995:25:23T55JLT4:3:2222:14656:17927,LH00995:25:23T55JLT4:3:2424:17156:14802,LH00995:25:23T55JLT4:4:2414:14672:23223,LH00995:25:23T55JLT4:5:1138:50551:9057,LH00995:25:23T55JLT4:5:1221:24364:20309,LH00995:25:23T55JLT4:5:1438:7213:20841,LH00995:25:23T55JLT4:8:1177:21848:14410,LH00995:25:23T55JLT4:8:1177:21856:14396,LH00995:25:23T55JLT4:8:1177:21856:14424,LH00995:25:23T55JLT4:8:1421:32915:28058,LH00995:25:23T55JLT4:8:1421:32923:28072,LH00995:25:23T55JLT4:8:2112:41863:10430,LH00995:25:23T55JLT4:8:2319:46547:17422 out-of-frame Centrosomal_colon_cancer_autoantigen_protein_family(2%)|PH_domain(100%),Protein_kinase_C_terminal_domain(100%),Protein_kinase_domain(100%) CDS/splice-site 5'UTR/splice-site 2 2 +/+ -/- . 4 ENST00000366541 ENST00000673466 inversion 0.003616636528028933 0.0017301038062283738 0.0026733701671286534 1173_RQT Arriba 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 AC091167--MYC AC091167--MYC AC091167--MYC FP FP Arriba 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 chr8 AC091167 MYC 90266398 127747639 chr15:90266398-chr8:127747639 +,- Arriba 1 0 348 348 PASS AC091167--MYC AC091167--MYC confidence:high;duplicates(165) high translocation 3'UTR/splice-site intergenic 19112 314 165.0 0.0 0.0 0.0 155 193 duplicates(165) PASS False chr15:90266398 chr8:127747639 chr15:90266398-chr8:127747639 . . high 19112 314 downstream downstream 0 duplicates(165) CGACAGAAACAAGCAATCCGATTCCAGAAAATTCGGAGGCAAATGGAGGCGCCTGGTGCCCCGCCCAGGACCCTGACGTGGGAAGCCATGGAGCAGATACG|TTGAGTCTTGAAAGGTGGTTGAGAACTTTGCTCCTGCTTCCTCGGCTACTCATGCTCCAACATCCTTCACTCCATCAAAATGGGTCTTTATTCAGCCAT AC091167.2 MYC(4688),PVT1(46887) ENSG00000261147 . . 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864,LH00995:25:23T55JLT4:8:2347:17892:16554,LH00995:25:23T55JLT4:8:2354:15813:18950,LH00995:25:23T55JLT4:8:2354:7877:23167,LH00995:25:23T55JLT4:8:2354:7885:23181,LH00995:25:23T55JLT4:8:2356:5320:6829,LH00995:25:23T55JLT4:8:2409:3257:20491,LH00995:25:23T55JLT4:8:2474:24032:4013 . . 3'UTR/splice-site intergenic 155 193 +/+ ./- . 348 ENST00000561573 . translocation 0.008044843514818083 0.3806706114398422 0.19435772747733016 1173_SK8 Arriba fp_audit 1173_SK8 fusion AC091167--MYC AC091167--MYC AC091167--MYC FP FP Arriba 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 chr8 AC091167 MYC 90266398 127747639 chr15:90266398-chr8:127747639 +,- Arriba 1 0 245 245 PASS AC091167--MYC AC091167--MYC confidence:high;duplicates(140) high translocation CDS/splice-site intergenic 19112 314 140.0 0.0 0.0 0.0 61 184 duplicates(140) PASS False chr15:90266398 chr8:127747639 chr15:90266398-chr8:127747639 . . high 19112 314 downstream downstream 0 duplicates(140) TCCAGAAAATTCGGAGGCAAATGGAGGCGCCTGGTGCCCCGCCCAGGACCCTGACGTGGGAAGCCATGGAGCAGATACG|TTGAGTCTTGAAAGGTGGTTGAGAACTTTGCTCCTGCTTCCTCGGCTACTCATGCTCCAACATCCTTCACTCCATCAAAATGGGTCTTTATTCAGCCAT AC091167.6 MYC(4688),PVT1(46887) ENSG00000275674 . . 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3T55JLT4:8:2184:1938:23812,LH00995:25:23T55JLT4:8:2201:51829:27581,LH00995:25:23T55JLT4:8:2214:18507:26250,LH00995:25:23T55JLT4:8:2313:38716:27567,LH00995:25:23T55JLT4:8:2354:15813:18950,LH00995:25:23T55JLT4:8:2409:3257:20491 . . CDS/splice-site intergenic 61 184 +/+ ./- . 245 ENST00000622269 . translocation 0.0031815573984248684 0.36947791164658633 0.1863297345225056 1173_SK8 Arriba fp_audit 1173_SK8 fusion AC091167--MYC AC091167--MYC AC091167--MYC FP FP Arriba 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 chr8 AC091167 MYC 90266398 127747639 chr15:90266398-chr8:127747639 +,- Arriba 1 0 252 252 PASS AC091167--MYC AC091167--MYC confidence:high;duplicates(101),mismatches(1) high translocation 3'UTR/splice-site intergenic 18064 210 101.0 1.0 0.0 0.0 109 143 duplicates(101),mismatches(1) PASS False chr15:90266398 chr8:127747639 chr15:90266398-chr8:127747639 . . high 18064 210 downstream downstream 0 duplicates(101),mismatches(1) ACGACAGAAACAAGCAATCCGATTCCAGAAAATTCGGAGGCAAATGGAGGCGCCTGGTGCCCCGCCCAGGACCCTGACGTGGGAAGCCATGGAGCAGATACG|TTGAGTCTTGAAAGGTGGTTGAGAACTTTGCTCCTGCTTCCTCGGCTACTCATGCTCCAACATCCTTCACTCCATCAAAATGGGTCTTTATTCAGCCATTC AC091167.2 MYC(4688),PVT1(46887) ENSG00000261147 . . 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. . 3'UTR/splice-site intergenic 109 143 +/+ ./- . 252 ENST00000561573 . translocation 0.005997908985858141 0.40509915014164305 0.20554852956375058 1173_SK8 Arriba fp_audit 1173_SK8 fusion AC091167--MYC AC091167--MYC AC091167--MYC FP FP Arriba 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 chr8 AC091167 MYC 90266398 127747639 chr15:90266398-chr8:127747639 +,- Arriba 1 0 183 183 PASS AC091167--MYC AC091167--MYC confidence:high;duplicates(85),mismatches(1) high translocation CDS/splice-site intergenic 18064 210 85.0 1.0 0.0 0.0 45 138 duplicates(85),mismatches(1) PASS False chr15:90266398 chr8:127747639 chr15:90266398-chr8:127747639 . . high 18064 210 downstream downstream 0 duplicates(85),mismatches(1) TCCAGAAAATTCGGAGGCAAATGGAGGCGCCTGGTGCCCCGCCCAGGACCCTGACGTGGGAAGCCATGGAGCAGATACG|TTGAGTCTTGAAAGGTGGTTGAGAACTTTGCTCCTGCTTCCTCGGCTACTCATGCTCCAACATCCTTCACTCCATCAAAATGGGTCTTTATTCAGCCATTCATCA AC091167.6 MYC(4688),PVT1(46887) ENSG00000275674 . . LH00995:25:23T55JLT4:1:1139:48189:2443,LH00995:25:23T55JLT4:1:1193:26928:25956,LH00995:25:23T55JLT4:1:1213:33190:23826,LH00995:25:23T55JLT4:1:1271:38675:15194,LH00995:25:23T55JLT4:1:1292:3540:6549,LH00995:25:23T55JLT4:1:1445:13612:16007,LH00995:25:23T55JLT4:1:1446:11468:13135,LH00995:25:23T55JLT4:1:1446:20189:1224,LH00995:25:23T55JLT4:1:1484:41822:20701,LH00995:25:23T55JLT4:1:2130:6064:2653,LH00995:25:23T55JLT4:1:2131:24024:12070,LH00995:25:23T55JLT4:1:2148:23393:10725,LH00995:25:23T55JLT4:1:2164:8944:8455,LH00995:25:23T55JLT4:1:2223:13038:6605,LH00995:25:23T55JLT4:1:2226:48181:17619,LH00995:25:23T55JLT4:1:2338:21176:21122,LH00995:25:23T55JLT4:1:2385:48602:2513,LH00995:25:23T55JLT4:1:2456:32672:7348,LH00995:25:23T55JLT4:2:1163:4357:9085,LH00995:25:23T55JLT4:2:1173:16153:20996,LH00995:25:23T55JLT4:2:1214:11849:17745,LH00995:25:23T55JLT4:2:1258:29655:15853,LH00995:25:23T55JLT4:2:1262:5627:26867,LH00995:25:23T55JLT4:2:1316:50398:7249,LH00995:25:23T55JLT4:2:1372:24332:27904,LH00995:25:23T55JLT4:2:1435:13879:21066,LH00995:25:23T55JLT4:2:1444:46247:16652,LH00995:25:23T55JLT4:2:1465:29088:22803,LH00995:25:23T55JLT4:2:1473:37316:7179,LH00995:25:23T55JLT4:2:1485:47267:14186,LH00995:25:23T55JLT4:2:1485:47283:14186,LH00995:25:23T55JLT4:2:2118:48780:8735,LH00995:25:23T55JLT4:2:2127:23879:27539,LH00995:25:23T55JLT4:2:2187:41749:4181,LH00995:25:23T55JLT4:2:2187:41757:4195,LH00995:25:23T55JLT4:2:2231:26338:1673,LH00995:25:23T55JLT4:2:2289:46846:8300,LH00995:25:23T55JLT4:2:2317:24299:24092,LH00995:25:23T55JLT4:2:2457:5814:23266,LH00995:25:23T55JLT4:2:2470:12156:6759,LH00995:25:23T55JLT4:3:1138:32373:9015,LH00995:25:23T55JLT4:3:1139:9308:1603,LH00995:25:23T55JLT4:3:1142:14834:9519,LH00995:25:23T55JLT4:3:1161:11096:14452,LH00995:25:23T55JLT4:3:1231:4810:1603,LH00995:25:23T55JLT4:3:1365:9818:25970,LH00995:25:23T55JLT4:3:1417:34023:23223,LH00995:25:23T55JLT4:3:1424:46207:18235,LH00995:25:23T55JLT4:3:1431:27155:21276,LH00995:25:23T55JLT4:3:1444:18046:21780,LH00995:25:23T55JLT4:3:1471:47606:21276,LH00995:25:23T55JLT4:3:1483:44152:11509,LH00995:25:23T55JLT4:3:2124:41579:3578,LH00995:25:23T55JLT4:3:2135:38424:14844,LH00995:25:23T55JLT4:3:2155:12763:13219,LH00995:25:23T55JLT4:3:2168:26039:1827,LH00995:25:23T55JLT4:3:2168:5498:1757,LH00995:25:23T55JLT4:3:2205:28741:28282,LH00995:25:23T55JLT4:3:2241:13863:24316,LH00995:25:23T55JLT4:3:2266:12010:3648,LH00995:25:23T55JLT4:3:2275:22414:4405,LH00995:25:23T55JLT4:3:2298:50284:24597,LH00995:25:23T55JLT4:3:2363:24550:7544,LH00995:25:23T55JLT4:3:2386:51109:14059,LH00995:25:23T55JLT4:3:2408:18491:25185,LH00995:25:23T55JLT4:3:2447:33538:10753,LH00995:25:23T55JLT4:3:2466:30189:10612,LH00995:25:23T55JLT4:4:1164:47809:2906,LH00995:25:23T55JLT4:4:1173:37793:18011,LH00995:25:23T55JLT4:4:1261:26314:15671,LH00995:25:23T55JLT4:4:1312:44589:3774,LH00995:25:23T55JLT4:4:1406:29784:3494,LH00995:25:23T55JLT4:4:1416:47477:19538,LH00995:25:23T55JLT4:4:1448:14001:6899,LH00995:25:23T55JLT4:4:1448:14009:6913,LH00995:25:23T55JLT4:4:1455:26653:15222,LH00995:25:23T55JLT4:4:2111:12164:12350,LH00995:25:23T55JLT4:4:2173:51635:16988,LH00995:25:23T55JLT4:4:2217:28336:21836,LH00995:25:23T55JLT4:4:2234:26386:7894,LH00995:25:23T55JLT4:4:2261:27535:20757,LH00995:25:23T55JLT4:4:2312:38578:27918,LH00995:25:23T55JLT4:4:2315:50956:18838,LH00995:25:23T55JLT4:4:2395:34873:23518,LH00995:25:23T55JLT4:4:2473:50948:20449,LH00995:25:23T55JLT4:4:2486:7084:15909,LH00995:25:23T55JLT4:4:2494:38918:10542,LH00995:25:23T55JLT4:5:1128:46239:28352,LH00995:25:23T55JLT4:5:1128:46247:28338,LH00995:25:23T55JLT4:5:1140:15166:20099,LH00995:25:23T55JLT4:5:1166:29024:29697,LH00995:25:23T55JLT4:5:1178:29283:29221,LH00995:25:23T55JLT4:5:1370:3751:28044,LH00995:25:23T55JLT4:5:1385:39136:19748,LH00995:25:23T55JLT4:5:1386:40900:4307,LH00995:25:23T55JLT4:5:1427:15384:24092,LH00995:25:23T55JLT4:5:1476:29404:17549,LH00995:25:23T55JLT4:5:1495:4058:18880,LH00995:25:23T55JLT4:5:1496:25861:21332,LH00995:25:23T55JLT4:5:2106:23806:8805,LH00995:25:23T55JLT4:5:2155:40657:28184,LH00995:25:23T55JLT4:5:2201:46514:17899,LH00995:25:23T55JLT4:5:2246:13305:20155,LH00995:25:23T55JLT4:5:2250:38570:1252,LH00995:25:23T55JLT4:5:2313:37413:24667,LH00995:25:23T55JLT4:5:2328:20303:14368,LH00995:25:23T55JLT4:5:2342:28061:17577,LH00995:25:23T55JLT4:5:2388:23612:24134,LH00995:25:23T55JLT4:5:2480:46644:22747,LH00995:25:23T55JLT4:5:2489:22066:3270,LH00995:25:23T55JLT4:5:2489:28854:18053,LH00995:25:23T55JLT4:5:2493:9114:2836,LH00995:25:23T55JLT4:6:1146:3929:11173,LH00995:25:23T55JLT4:6:1182:21087:17885,LH00995:25:23T55JLT4:6:1184:44929:7474,LH00995:25:23T55JLT4:6:1204:37801:29599,LH00995:25:23T55JLT4:6:1214:23296:2373,LH00995:25:23T55JLT4:6:1217:14041:4615,LH00995:25:23T55JLT4:6:1298:26225:10977,LH00995:25:23T55JLT4:6:1298:50996:23308,LH00995:25:23T55JLT4:6:1316:4924:18277,LH00995:25:23T55JLT4:6:1322:40835:13163,LH00995:25:23T55JLT4:6:1360:19809:5806,LH00995:25:23T55JLT4:6:1428:33635:27651,LH00995:25:23T55JLT4:6:1434:46611:4615,LH00995:25:23T55JLT4:6:1439:17900:16680,LH00995:25:23T55JLT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81:33279:17815,LH00995:25:23T55JLT4:7:1383:51619:27441,LH00995:25:23T55JLT4:7:1481:43416:13205,LH00995:25:23T55JLT4:7:2105:20473:10542,LH00995:25:23T55JLT4:7:2132:13313:4111,LH00995:25:23T55JLT4:7:2254:11727:20001,LH00995:25:23T55JLT4:7:2462:24437:11439,LH00995:25:23T55JLT4:7:2478:37365:18137,LH00995:25:23T55JLT4:8:1303:45665:17016,LH00995:25:23T55JLT4:8:1391:15133:10010,LH00995:25:23T55JLT4:8:1391:15141:9996,LH00995:25:23T55JLT4:8:1491:46903:5064,LH00995:25:23T55JLT4:8:2104:11938:19776,LH00995:25:23T55JLT4:8:2124:25480:7810,LH00995:25:23T55JLT4:8:2170:46636:19286,LH00995:25:23T55JLT4:8:2390:29671:18684,LH00995:25:23T55JLT4:8:2417:40932:1981 . . CDS/splice-site intergenic 45 138 +/+ ./- . 183 ENST00000622269 . translocation 0.0024849522336959523 0.39655172413793105 0.1995183381858135 1173_SK8 Arriba fp_audit 1173_SK8 fusion AC091167--MYC AC091167--MYC AC091167--MYC FP FP Arriba 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 chr8 AC091167 MYC 90266398 127747639 chr15:90266398-chr8:127747639 +,- Arriba 1 0 252 252 PASS AC091167--MYC AC091167--MYC confidence:high;duplicates(101),mismatches(1) high translocation 3'UTR/splice-site intergenic 18064 210 101.0 1.0 0.0 0.0 109 143 duplicates(101),mismatches(1) PASS False chr15:90266398 chr8:127747639 chr15:90266398-chr8:127747639 . . high 18064 210 downstream downstream 0 duplicates(101),mismatches(1) ACGACAGAAACAAGCAATCCGATTCCAGAAAATTCGGAGGCAAATGGAGGCGCCTGGTGCCCCGCCCAGGACCCTGACGTGGGAAGCCATGGAGCAGATACG|TTGAGTCTTGAAAGGTGGTTGAGAACTTTGCTCCTGCTTCCTCGGCTACTCATGCTCCAACATCCTTCACTCCATCAAAATGGGTCTTTATTCAGCCATTC AC091167.2 MYC(4688),PVT1(46887) ENSG00000261147 . . 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. . 3'UTR/splice-site intergenic 109 143 +/+ ./- . 252 ENST00000561573 . translocation 0.005997908985858141 0.40509915014164305 0.20554852956375058 1173_SK8 Arriba fp_audit 1173_SK8 fusion AC091167--MYC AC091167--MYC AC091167--MYC FP FP Arriba 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 chr8 AC091167 MYC 90266398 127747639 chr15:90266398-chr8:127747639 +,- Arriba 1 0 183 183 PASS AC091167--MYC AC091167--MYC confidence:high;duplicates(85),mismatches(1) high translocation CDS/splice-site intergenic 18064 210 85.0 1.0 0.0 0.0 45 138 duplicates(85),mismatches(1) PASS False chr15:90266398 chr8:127747639 chr15:90266398-chr8:127747639 . . high 18064 210 downstream downstream 0 duplicates(85),mismatches(1) TCCAGAAAATTCGGAGGCAAATGGAGGCGCCTGGTGCCCCGCCCAGGACCCTGACGTGGGAAGCCATGGAGCAGATACG|TTGAGTCTTGAAAGGTGGTTGAGAACTTTGCTCCTGCTTCCTCGGCTACTCATGCTCCAACATCCTTCACTCCATCAAAATGGGTCTTTATTCAGCCATTCATCA AC091167.6 MYC(4688),PVT1(46887) ENSG00000275674 . . 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81:33279:17815,LH00995:25:23T55JLT4:7:1383:51619:27441,LH00995:25:23T55JLT4:7:1481:43416:13205,LH00995:25:23T55JLT4:7:2105:20473:10542,LH00995:25:23T55JLT4:7:2132:13313:4111,LH00995:25:23T55JLT4:7:2254:11727:20001,LH00995:25:23T55JLT4:7:2462:24437:11439,LH00995:25:23T55JLT4:7:2478:37365:18137,LH00995:25:23T55JLT4:8:1303:45665:17016,LH00995:25:23T55JLT4:8:1391:15133:10010,LH00995:25:23T55JLT4:8:1391:15141:9996,LH00995:25:23T55JLT4:8:1491:46903:5064,LH00995:25:23T55JLT4:8:2104:11938:19776,LH00995:25:23T55JLT4:8:2124:25480:7810,LH00995:25:23T55JLT4:8:2170:46636:19286,LH00995:25:23T55JLT4:8:2390:29671:18684,LH00995:25:23T55JLT4:8:2417:40932:1981 . . CDS/splice-site intergenic 45 138 +/+ ./- . 183 ENST00000622269 . translocation 0.0024849522336959523 0.39655172413793105 0.1995183381858135 1173_SK8 Arriba fp_audit 1173_SK8 fusion AC091167--MYC AC091167--MYC AC091167--MYC FP FP Arriba 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 chr8 AC091167 MYC 90266398 127747639 chr15:90266398-chr8:127747639 +,- Arriba 1 0 348 348 PASS AC091167--MYC AC091167--MYC confidence:high;duplicates(165) high translocation 3'UTR/splice-site intergenic 19112 314 165.0 0.0 0.0 0.0 155 193 duplicates(165) PASS False chr15:90266398 chr8:127747639 chr15:90266398-chr8:127747639 . . high 19112 314 downstream downstream 0 duplicates(165) CGACAGAAACAAGCAATCCGATTCCAGAAAATTCGGAGGCAAATGGAGGCGCCTGGTGCCCCGCCCAGGACCCTGACGTGGGAAGCCATGGAGCAGATACG|TTGAGTCTTGAAAGGTGGTTGAGAACTTTGCTCCTGCTTCCTCGGCTACTCATGCTCCAACATCCTTCACTCCATCAAAATGGGTCTTTATTCAGCCAT AC091167.2 MYC(4688),PVT1(46887) ENSG00000261147 . . 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864,LH00995:25:23T55JLT4:8:2347:17892:16554,LH00995:25:23T55JLT4:8:2354:15813:18950,LH00995:25:23T55JLT4:8:2354:7877:23167,LH00995:25:23T55JLT4:8:2354:7885:23181,LH00995:25:23T55JLT4:8:2356:5320:6829,LH00995:25:23T55JLT4:8:2409:3257:20491,LH00995:25:23T55JLT4:8:2474:24032:4013 . . 3'UTR/splice-site intergenic 155 193 +/+ ./- . 348 ENST00000561573 . translocation 0.008044843514818083 0.3806706114398422 0.19435772747733016 1173_SK8 Arriba fp_audit 1173_SK8 fusion AC091167--MYC AC091167--MYC AC091167--MYC FP FP Arriba 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 chr8 AC091167 MYC 90266398 127747639 chr15:90266398-chr8:127747639 +,- Arriba 1 0 245 245 PASS AC091167--MYC AC091167--MYC confidence:high;duplicates(140) high translocation CDS/splice-site intergenic 19112 314 140.0 0.0 0.0 0.0 61 184 duplicates(140) PASS False chr15:90266398 chr8:127747639 chr15:90266398-chr8:127747639 . . high 19112 314 downstream downstream 0 duplicates(140) TCCAGAAAATTCGGAGGCAAATGGAGGCGCCTGGTGCCCCGCCCAGGACCCTGACGTGGGAAGCCATGGAGCAGATACG|TTGAGTCTTGAAAGGTGGTTGAGAACTTTGCTCCTGCTTCCTCGGCTACTCATGCTCCAACATCCTTCACTCCATCAAAATGGGTCTTTATTCAGCCAT AC091167.6 MYC(4688),PVT1(46887) ENSG00000275674 . . 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3T55JLT4:8:2184:1938:23812,LH00995:25:23T55JLT4:8:2201:51829:27581,LH00995:25:23T55JLT4:8:2214:18507:26250,LH00995:25:23T55JLT4:8:2313:38716:27567,LH00995:25:23T55JLT4:8:2354:15813:18950,LH00995:25:23T55JLT4:8:2409:3257:20491 . . CDS/splice-site intergenic 61 184 +/+ ./- . 245 ENST00000622269 . translocation 0.0031815573984248684 0.36947791164658633 0.1863297345225056 1173_SK8 Arriba fp_audit 1173_SK8 fusion AKT3--SDCCAG8 SDCCAG8--AKT3 AKT3--SDCCAG8 FP FP Arriba 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 chr1 chr1 SDCCAG8 AKT3 243256240 243843282 chr1:243256240-chr1:243843282 +,- Arriba 1 0 1 1 PASS out-of-frame SDCCAG8--AKT3 AKT3--SDCCAG8 confidence:low low inversion CDS/splice-site 5'UTR/splice-site 634 509 0 1 False FAIL False chr1:243256240 chr1:243843282 chr1:243256240-chr1:243843282 . . low 634 509 downstream downstream 0 confidence_below_min(lowchr15|-|[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 +,- Arriba 1 0 11 11 PASS out-of-frame CRTC3--NTRK3 CRTC3--NTRK3 confidence:medium;duplicates(7) medium inversion CDS/splice-site CDS/splice-site 3339 1846 7.0 0.0 0.0 0.0 8 3 False duplicates(7) FAIL False chr15:90540137 chr15:88184299 chr15:90540137-chr15:88184299 . . medium 3339 1846 downstream downstream 0 confidence_below_min(mediumchr15|-|[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 -,- Arriba 1 0 44 44 PASS out-of-frame IDH2--NTRK3 IDH2--NTRK3 confidence:medium;duplicates(39) medium deletion CDS/splice-site CDS/splice-site 37181 3918 39.0 0.0 0.0 0.0 3 41 False duplicates(39) FAIL False chr15:90102276 chr15:88184299 chr15:90102276-chr15:88184299 . . medium 37181 3918 upstream downstream 0 confidence_below_min(mediumchr15|-|[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 -,- Arriba 1 0 14 14 PASS out-of-frame IDH2--NTRK3 IDH2--NTRK3 confidence:medium;duplicates(6) medium deletion CDS/splice-site CDS/splice-site 30980 1846 6.0 0.0 0.0 0.0 7 7 False duplicates(6) FAIL False chr15:90102276 chr15:88184299 chr15:90102276-chr15:88184299 . . medium 30980 1846 upstream downstream 0 confidence_below_min(mediumchr15|-|[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 1173_SK8 fusion IGF1R--MYC IGF1R--MYC IGF1R--MYC FP FP Arriba 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 chr8 IGF1R MYC 98649675 127738248 chr15:98649675-chr8:127738248 +,+ Arriba 1 0 5 5 PASS out-of-frame IGF1R--MYC IGF1R--MYC confidence:medium;duplicates(3) medium translocation CDS/splice-site CDS/splice-site 65535 65535 3.0 0.0 0.0 0.0 4 1 False duplicates(3) FAIL False chr15:98649675 chr8:127738248 chr15:98649675-chr8:127738248 . . medium 65535 65535 downstream upstream 0 confidence_below_min(mediumchr10|-|[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 -,- Arriba 1 0 4 4 PASS in-frame FGFR2--PLEKHA4 FGFR2--PLEKHA4 confidence:medium;duplicates(3) medium translocation CDS/splice-site 5'UTR/splice-site 1851 1126 3.0 0.0 0.0 0.0 1 3 True duplicates(3) FAIL False chr10:121496532 chr19:48867626 chr10:121496532-chr19:48867626 . . medium 1851 1126 upstream downstream 0 confidence_below_min(mediumchr19|-|[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 -,- Arriba 1 0 12 12 PASS in-frame FGFR2--TULP2 FGFR2--TULP2 confidence:high;duplicates(8),mismatches(1) high translocation CDS/splice-site CDS/splice-site 1851 46 8.0 1.0 0.0 0.0 9 3 True duplicates(8),mismatches(1) PASS False chr10:121496532 chr19:48885560 chr10:121496532-chr19:48885560 . . high 1851 46 upstream downstream 0 duplicates(8),mismatches(1) CCTCTCTATGTCATAGTTGAGTATGCCTCTAAAGGCAACCTCCGAGAATACCTCCGAGCCCGGAGGCCACCCGGGATGGAGTACTCCTATGACATTAACCGTGTTCCTGAGGAGCAGATGACCTTCAAGGACTTGGTGTCATGCACCTACCAGCTGGCCAGAGGCATGGAGTACTTGGCTTCCCAAAAA|CGCTTCCTCCTGGCTGGGCGAAAGAGAAGAAGGAGCAAAACTTCTAATTACCTCATCTCCCTGGATCCTACACACCTATCTCGGGACGGGGACAATTTCGTGGGC FGFR2 TULP2 ENSG00000066468 ENSG00000104804 PLYVIVEYASKGNLREYLRARRPPGMEYSYDINRVPEEQMTFKDLVSCTYQLARGMEYLASQK|RFLLAGRKRRRSKTSNYLISLDPTHLSRDGDNFV LH00166:186:2372Y3LT4:8:1127:37987:20365,LH00166:186:2372Y3LT4:8:1206:11978:12392,LH00166:186:2372Y3LT4:8:1315:22212:5568,LH00166:186:2372Y3LT4:8:1374:8232:21262,LH00166:186:2372Y3LT4:8:1484:17593:7684,LH00166:186:2372Y3LT4:8:1484:17601:7670,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,LH00166:186:2372Y3LT4:8:2343:28943:11817,LH00166:186:2372Y3LT4:8:2349:37615:3186,LH00166:186:2372Y3LT4:8:2362:2149:4671,LH00166:186:2372Y3LT4:8:2417:41345:12700,LH00166:186:2372Y3LT4:8:2440:7383:13065,LH00166:186:2372Y3LT4:8:1141:18013:5274,LH00166:186:2372Y3LT4:8:1235:35504:7376,LH00166:186:2372Y3LT4:8:2129:18345:14059,LH00166:186:2372Y3LT4:8:2205:20853:7530,LH00166:186:2372Y3LT4:8:2209:25707:13023,LH00166:186:2372Y3LT4:8:2381:25343:3144 in-frame Immunoglobulin_I-set_domain(100%),Immunoglobulin_domain(100%),NA(100%),Protein_kinase_domain(50%)|Tub_family(85%) CDS/splice-site CDS/splice-site 9 3 -/- -/- . 12 ENST00000613048 ENST00000221399 translocation 0.004838709677419355 0.061224489795918366 0.03303159973666886 659_bdp Arriba 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 -,- Arriba 1 0 5 5 PASS in-frame FGFR2--TULP2 FGFR2--TULP2 confidence:medium;duplicates(5),mismatches(1) medium translocation CDS/splice-site CDS/splice-site 1851 257 5.0 1.0 0.0 0.0 4 1 True duplicates(5),mismatches(1) FAIL False chr10:121496532 chr19:48882203 chr10:121496532-chr19:48882203 . . medium 1851 257 upstream downstream 0 confidence_below_min(mediumchr19|-|[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 +,+ Arriba 1 1 244 245 PASS out-of-frame IQGAP1--PPARG IQGAP1--PPARG confidence:high;duplicates(100),mismappers(1),mismatches(13) high translocation CDS/splice-site 5'UTR/splice-site 4527 339 100.0 13.0 1.0 0.0 229 15 False duplicates(100),mismappers(1),mismatches(13) PASS False chr15:90390873 chr3:12312380 chr15:90390873-chr3:12312380 . . high 4527 339 downstream upstream 1 duplicates(100),mismappers(1),mismatches(13) GCGCCTCCAAGGTTTCACGGCTTCCTCAGCAGAGACTCGGGCTCGTCCGCCATGTCCGCCGCAGACGAGGTTGACGGGCTGGGCGTGGCCCGGCCGCACTATGGCT___CTGTCCTGGATAATGAAAGACTTACTGCAGAGGAGATGGATGAAAGGAGACGTCAGAACGTGGCTTATGAGTACCTTTGTCATTTGGAAGAAGCGAAGAG|ATTTGAAAGAAGCCAACACTAAACCACAAATATACAACAAGGCCATTTTCTCAAACGAGAGTCAGCCTTTAACG IQGAP1 PPARG ENSG00000140575 ENSG00000132170 MSAADEVDGLGVARPHYGSVLDNERLTAEEMDERRRQNVAYEYLCHLEEAKr|fersqh* 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166:186:2372Y3LT4:8:2130:15489:9337,LH00166:186:2372Y3LT4:8:2131:10999:2625,LH00166:186:2372Y3LT4:8:2131:30148:22845,LH00166:186:2372Y3LT4:8:2134:16630:11902,LH00166:186:2372Y3LT4:8:2135:21718:29627,LH00166:186:2372Y3LT4:8:2140:48755:26909,LH00166:186:2372Y3LT4:8:2140:51563:17198,LH00166:186:2372Y3LT4:8:2144:14324:27974,LH00166:186:2372Y3LT4:8:2146:37664:12826,LH00166:186:2372Y3LT4:8:2147:9033:18838,LH00166:186:2372Y3LT4:8:2151:33756:24443,LH00166:186:2372Y3LT4:8:2152:35488:12112,LH00166:186:2372Y3LT4:8:2154:4624:19048,LH00166:186:2372Y3LT4:8:2156:23013:21808,LH00166:186:2372Y3LT4:8:2156:28991:5736,LH00166:186:2372Y3LT4:8:2158:46223:17955,LH00166:186:2372Y3LT4:8:2160:8750:14900,LH00166:186:2372Y3LT4:8:2161:36976:18585,LH00166:186:2372Y3LT4:8:2167:43011:7320,LH00166:186:2372Y3LT4:8:2174:1372:1168,LH00166:186:2372Y3LT4:8:2178:43286:28814,LH00166:186:2372Y3LT4:8:2182:18313:20813,LH00166:186:2372Y3LT4:8:2185:2068:28072,LH00166:186:2372Y3LT4:8:2186:14308:20575,LH00166:186:2372Y3LT4:8:2186:3289:2275,LH00166:186:2372Y3LT4:8:2187:34355:2135,LH00166:186:2372Y3LT4:8:2188:39411:25353,LH00166:186:2372Y3LT4:8:2194:26047:24344,LH00166:186:2372Y3LT4:8:2197:31006:27497,LH00166:186:2372Y3LT4:8:2203:20303:3802,LH00166:186:2372Y3LT4:8:2203:4843:25059,LH00166:186:2372Y3LT4:8:2207:16298:19903,LH00166:186:2372Y3LT4:8:2207:9559:28436,LH00166:186:2372Y3LT4:8:2210:32583:18852,LH00166:186:2372Y3LT4:8:2214:39541:18824,LH00166:186:2372Y3LT4:8:2216:32810:16526,LH00166:186:2372Y3LT4:8:2217:1251:23209,LH00166:186:2372Y3LT4:8:2219:43966:29235,LH00166:186:2372Y3LT4:8:2223:46741:5988,LH00166:186:2372Y3LT4:8:2224:40374:13569,LH00166:186:2372Y3LT4:8:2225:19558:29249,LH00166:186:2372Y3LT4:8:2225:21120:1995,LH00166:186:2372Y3LT4:8:2225:34396:1701,LH00166:186:2372Y3LT4:8:2226:29695:12504,LH00166:186:2372Y3LT4:8:2231:7496:10206,LH00166:186:2372Y3LT4:8:2235:28579:18025,LH00166:186:2372Y3LT4:8:2235:37146:27792,LH00166:186:2372Y3LT4:8:2236:50778:9505,LH00166:186:2372Y3LT4:8:2237:35423:2303,LH00166:186:2372Y3LT4:8:2237:35431:2289,LH00166:186:2372Y3LT4:8:2238:14526:28828,LH00166:186:2372Y3LT4:8:2239:35350:8286,LH00166:186:2372Y3LT4:8:2242:18232:9828,LH00166:186:2372Y3LT4:8:2250:40123:27035,LH00166:186:2372Y3LT4:8:2251:41579:19384,LH00166:186:2372Y3LT4:8:2253:10983:18067,LH00166:186:2372Y3LT4:8:2259:15926:19903,LH00166:186:2372Y3LT4:8:2262:51012:27539,LH00166:186:2372Y3LT4:8:2264:24890:29543,LH00166:186:2372Y3LT4:8:2264:51304:15124,LH00166:186:2372Y3LT4:8:2264:8241:9029,LH00166:186:2372Y3LT4:8:2265:28207:13009,LH00166:186:2372Y3LT4:8:2266:41312:18978,LH00166:186:2372Y3LT4:8:2266:9268:4699,LH00166:186:2372Y3LT4:8:2268:22050:11061,LH00166:186:2372Y3LT4:8:2274:43408:8791,LH00166:186:2372Y3LT4:8:2282:51773:22775,LH00166:186:2372Y3LT4:8:2285:25052:6787,LH00166:186:2372Y3LT4:8:2286:19227:4517,LH00166:186:2372Y3LT4:8:2289:5870:28212,LH00166:186:2372Y3LT4:8:2290:46733:1799,LH00166:186:2372Y3LT4:8:2296:27875:13695,LH00166:186:2372Y3LT4:8:2298:36531:8903,LH00166:186:2372Y3LT4:8:2304:10174:24625,LH00166:186:2372Y3LT4:8:2310:13758:13681,LH00166:186:2372Y3LT4:8:2312:34436:15867,LH00166:186:2372Y3LT4:8:2320:34646:1462,LH00166:186:2372Y3LT4:8:2321:47971:29669,LH00166:186:2372Y3LT4:8:2323:39581:26460,LH00166:186:2372Y3LT4:8:2330:38052:25409,LH00166:186:2372Y3LT4:8:2344:20570:21080,LH00166:186:2372Y3LT4:8:2344:37454:7922,LH00166:186:2372Y3LT4:8:2347:25521:28198,LH00166:186:2372Y3LT4:8:2349:3589:16021,LH00166:186:2372Y3LT4:8:2354:10223:20982,LH00166:186:2372Y3LT4:8:2376:34404:3985,LH00166:186:2372Y3LT4:8:2376:44184:22775,LH00166:186:2372Y3LT4:8:2379:22681:22859,LH00166:186:2372Y3LT4:8:2381:26564:11033,LH00166:186:2372Y3LT4:8:2383:42316:25395,LH00166:186:2372Y3LT4:8:2384:23879:5652,LH00166:186:2372Y3LT4:8:2389:24655:22971,LH00166:186:2372Y3LT4:8:2394:13823:15587,LH00166:186:2372Y3LT4:8:2410:18296:18487,LH00166:186:2372Y3LT4:8:2420:11841:2794,LH00166:186:2372Y3LT4:8:2426:26022:4825,LH00166:186:2372Y3LT4:8:2429:1186:13345,LH00166:186:2372Y3LT4:8:2429:28983:28814,LH00166:186:2372Y3LT4:8:2430:40487:18557,LH00166:186:2372Y3LT4:8:2436:23167:18768,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,LH00166:186:2372Y3LT4:8:1427:15675:11537 out-of-frame Calponin_homology_(CH)_domain(4%)|Ligand-binding_domain_of_nuclear_hormone_receptor(100%),PPAR_gamma_N-terminal_region(100%),Zinc_finger__C4_type_(two_domains)(100%) CDS/splice-site 5'UTR/splice-site 229 15 +/+ +/+ . 245 ENST00000268182 ENST00000397010 translocation 0.048249763481551564 0.04372355430183357 0.04598665889169257 659_bdp Arriba 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 12379704 chr15:90390873-chr3:12379704 +,+ Arriba 1 1 9 10 PASS out-of-frame IQGAP1--PPARG IQGAP1--PPARG confidence:medium;duplicates(6) medium translocation CDS/splice-site CDS/splice-site 4527 1263 6.0 0.0 0.0 0.0 2 7 False duplicates(6) FAIL False chr15:90390873 chr3:12379704 chr15:90390873-chr3:12379704 . . medium 4527 1263 downstream upstream 1 confidence_below_min(mediumchr1|-|[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 AC078927--ROS1 AC078927--ROS1 AC078927--ROS1 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 chr12 chr6 AC078927 ROS1 66169855 117329520 chr12:66169855-chr6:117329520 -,+ Arriba 1 0 162 162 PASS out-of-frame AC078927--ROS1 AC078927--ROS1 confidence:medium;duplicates(38),mismatches(4),multimappers(1) medium translocation/5'-5' CDS/splice-site intron 49419 129 38.0 4.0 0.0 1.0 117 45 False duplicates(38),mismatches(4),multimappers(1) FAIL False chr12:66169855 chr6:117329520 chr12:66169855-chr6:117329520 . . medium 49419 129 upstream upstream 0 confidence_below_min(mediumchr5|-|[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 fp_audit 659_db9 fusion NUS1--ROS1 NUS1--ROS1 NUS1--ROS1 FP FP Arriba 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 chr6 chr6 NUS1 ROS1 117676085 117310967 chr6:117676085-chr6:117310967 +,+ Arriba 1 0 6 6 PASS out-of-frame NUS1--ROS1 NUS1--ROS1 confidence:medium;duplicates(1),mismatches(1) medium duplication/5'-5' CDS/splice-site intron 2858 98 1.0 1.0 0.0 0.0 2 4 False duplicates(1),mismatches(1) FAIL False chr6:117676085 chr6:117310967 chr6:117676085-chr6:117310967 . . medium 2858 98 downstream upstream 0 confidence_below_min(medium