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aih-tih-sc-176637-R1_B23WHYVLT4_1.fusions.csv
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s3://natera-rnd-pltf-dev-nextflow-scratch-01/work/5e/9d3564aae62e57586eebe9a872d478/aih-tih-sc-176637-R1_B23WHYVLT4_1.fusions.csv
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Attempt
Fusion Databases Score Explained score arriba starfusion
FRS2--LYZ Mitelman,FusionGDB2 0.375 0.5 * (0.125 + 0.125) + 0.5 * (0.500 + 0.000) position: chr12:69532056#chr12:69350108,reading-frame: .,type: duplication,split_reads1: 36,split_reads2: 126,discordant_mates: 18,coverage1: 580,coverage2: 7005,confidence: high position: chr12:69532056:+#chr12:69350108:+,junction_reads: 165,spanning_reads: 18,ffmp: 0.9418
BTAF1--TNKS2 0.125 0.5 * (0.125 + 0.125) + 0.5 * () position: chr10:91992309#chr10:91840561,reading-frame: in-frame,type: duplication,split_reads1: 89,split_reads2: 43,discordant_mates: 3,coverage1: 675,coverage2: 871,confidence: high position: chr10:91992309:+#chr10:91840561:+,junction_reads: 139,spanning_reads: 3,ffmp: 0.7487
PTPRH--ACTN1 0.125 0.5 * (0.125 + 0.125) + 0.5 * () position: chr19:55206689#chr14:68925672,reading-frame: out-of-frame,type: translocation,split_reads1: 65,split_reads2: 39,discordant_mates: 2,coverage1: 226,coverage2: 5539,confidence: high position: chr19:55206689:-#chr14:68925672:-,junction_reads: 106,spanning_reads: 2,ffmp: 0.5694
FSIP1--AC013652.1 0.125 0.5 * (0.125 + 0.125) + 0.5 * () position: chr15:39600845#chr15:39071608,reading-frame: .,type: deletion,split_reads1: 66,split_reads2: 12,discordant_mates: 8,coverage1: 3011,coverage2: 30,confidence: high position: chr15:39600845:-#chr15:39071608:-,junction_reads: 78,spanning_reads: 8,ffmp: 0.4442
WWOX--FTO 0.125 0.5 * (0.125 + 0.125) + 0.5 * () position: chr16:78164289#chr16:53810140,reading-frame: in-frame,type: duplication,split_reads1: 35,split_reads2: 22,discordant_mates: 0,coverage1: 412,coverage2: 1187,confidence: high position: chr16:78164289:+#chr16:53810140:+,junction_reads: 58,spanning_reads: 0,ffmp: 0.3058
C19orf47--BLVRB FusionGDB2 0.125 0.5 * (0.125 + 0.125) + 0.5 * (0.000) position: chr19:40333851#chr19:40458545,reading-frame: in-frame,type: duplication,split_reads1: 27,split_reads2: 30,discordant_mates: 2,coverage1: 595,coverage2: 2557,confidence: high position: chr19:40333851:-#chr19:40458545:-,junction_reads: 57,spanning_reads: 2,ffmp: 0.311
ABCA12--FN1 0.062 0.5 * (0.125) + 0.5 * () position: chr2:215138140:-#chr2:215362079:-,junction_reads: 52,spanning_reads: 0,ffmp: 0.2742
C22orf46--FHOD3 0.125 0.5 * (0.125 + 0.125) + 0.5 * () position: chr22:41689304#chr18:36355539,reading-frame: .,type: translocation,split_reads1: 4,split_reads2: 13,discordant_mates: 2,coverage1: 7,coverage2: 250,confidence: high position: chr22:41689304:+#chr18:36355539:+,junction_reads: 46,spanning_reads: 3,ffmp: 0.2583
AC005839.1--ZNF280D 0.125 0.5 * (0.125 + 0.125) + 0.5 * () position: chr17:51186025#chr15:56701238,reading-frame: .,type: translocation,split_reads1: 1,split_reads2: 38,discordant_mates: 0,coverage1: 18,coverage2: 1895,confidence: high position: chr17:51186025:-#chr15:56701238:-,junction_reads: 41,spanning_reads: 0,ffmp: 0.2162
ELMO2--SLC13A3 0.125 0.5 * (0.125 + 0.125) + 0.5 * () position: chr20:46383416#chr20:46566390,reading-frame: in-frame,type: duplication,split_reads1: 26,split_reads2: 13,discordant_mates: 2,coverage1: 807,coverage2: 89,confidence: high position: chr20:46383416:-#chr20:46566390:-,junction_reads: 39,spanning_reads: 2,ffmp: 0.2161
MYH9--TXN2 Mitelman,FusionGDB2 0.375 0.5 * (0.125 + 0.125) + 0.5 * (0.500 + 0.000) position: chr22:36314145#chr22:36476856,reading-frame: out-of-frame,type: duplication,split_reads1: 17,split_reads2: 17,discordant_mates: 0,coverage1: 4104,coverage2: 517,confidence: high position: chr22:36314145:-#chr22:36476856:-,junction_reads: 34,spanning_reads: 0,ffmp: 0.1793
RAB4A--MDM4 0.125 0.5 * (0.125 + 0.125) + 0.5 * () position: chr1:229299072#chr1:204525484,reading-frame: in-frame,type: duplication,split_reads1: 13,split_reads2: 20,discordant_mates: 1,coverage1: 1952,coverage2: 4148,confidence: high position: chr1:229299072:+#chr1:204525484:+,junction_reads: 34,spanning_reads: 1,ffmp: 0.1846
JPT2--CRAMP1 Mitelman 0.375 0.5 * (0.125 + 0.125) + 0.5 * (0.500) position: chr16:1698843#chr16:1625973,reading-frame: in-frame,type: duplication,split_reads1: 12,split_reads2: 18,discordant_mates: 1,coverage1: 3779,coverage2: 639,confidence: high position: chr16:1698843:+#chr16:1625973:+,junction_reads: 30,spanning_reads: 1,ffmp: 0.1627
SSH2--MYO18A 0.125 0.5 * (0.125 + 0.125) + 0.5 * () position: chr17:29929938#chr17:29122253,reading-frame: in-frame,type: deletion,split_reads1: 16,split_reads2: 10,discordant_mates: 0,coverage1: 1575,coverage2: 877,confidence: high position: chr17:29929938:-#chr17:29122253:-,junction_reads: 27,spanning_reads: 0,ffmp: 0.1424
ESR1--SCEL 0.062 0.5 * (0.125) + 0.5 * () position: chr6:151808364:+#chr13:77555857:+,junction_reads: 27,spanning_reads: 0,ffmp: 0.1424
PTBP3--HSDL2 0.062 0.5 * (0.125) + 0.5 * () position: chr9:112297832:-#chr9:112418860:+,junction_reads: 27,spanning_reads: 1,ffmp: 0.1457
BCL2--AC079760.2 0.062 0.5 * (0.125) + 0.5 * () position: chr18:63318082:-#chr7:91493395:+,junction_reads: 24,spanning_reads: 3,ffmp: 0.1346
HAVCR2--EPB41L4A 0.062 0.5 * (0.125) + 0.5 * () position: chr5:157142820:-#chr5:112307490:-,junction_reads: 22,spanning_reads: 0,ffmp: 0.116
COL1A1--SLC45A4 0.062 0.5 * (0.125) + 0.5 * () position: chr17:50189867:-#chr8:141254178:-,junction_reads: 21,spanning_reads: 0,ffmp: 0.1107
TLK2P1--AC110079.1 0.062 0.5 * (0.125) + 0.5 * () position: chr17:34039043:-#chr4:118595912:+,junction_reads: 18,spanning_reads: 0,ffmp: 0.0888
MIGA2--PHYHD1 0.125 0.5 * (0.125 + 0.125) + 0.5 * () position: chr9:129068332#chr9:128936448,reading-frame: out-of-frame,type: duplication,split_reads1: 9,split_reads2: 7,discordant_mates: 0,coverage1: 189,coverage2: 948,confidence: high position: chr9:129068332:+#chr9:128936448:+,junction_reads: 17,spanning_reads: 0,ffmp: 0.0896
NOCT--LINC02617 0.062 0.5 * (0.125) + 0.5 * () position: chr4:139016171:+#chr12:10338202:-,junction_reads: 16,spanning_reads: 0,ffmp: 0.0844
TMEM94--TOGARAM1 0.125 0.5 * (0.125 + 0.125) + 0.5 * () position: chr17:75495034#chr14:45011975,reading-frame: out-of-frame,type: translocation,split_reads1: 3,split_reads2: 11,discordant_mates: 0,coverage1: 994,coverage2: 1175,confidence: high position: chr17:75495034:+#chr14:45011975:+,junction_reads: 15,spanning_reads: 0,ffmp: 0.0791
MBTD1--ZNF280D 0.125 0.5 * (0.125 + 0.125) + 0.5 * () position: chr17:51192203#chr15:56701238,reading-frame: in-frame,type: translocation,split_reads1: 7,split_reads2: 7,discordant_mates: 0,coverage1: 1588,coverage2: 1895,confidence: high position: chr17:51192203:-#chr15:56701238:-,junction_reads: 14,spanning_reads: 0,ffmp: 0.0738
VKORC1L1--AUTS2 0.125 0.5 * (0.125 + 0.125) + 0.5 * () position: chr7:65873565#chr7:70698569,reading-frame: out-of-frame,type: deletion,split_reads1: 5,split_reads2: 8,discordant_mates: 1,coverage1: 1212,coverage2: 1664,confidence: high position: chr7:65873565:+#chr7:70698569:+,junction_reads: 13,spanning_reads: 2,ffmp: 0.079
ZNF280D--MBTD1 0.125 0.5 * (0.125 + 0.125) + 0.5 * () position: chr15:56704121#chr17:51187931,reading-frame: out-of-frame,type: translocation/5'-5',split_reads1: 41,split_reads2: 4,discordant_mates: 0,coverage1: 2189,coverage2: 5,confidence: high position: chr15:56704121:-#chr17:51180694:-,junction_reads: 12,spanning_reads: 0,ffmp: 0.0633
TLK2--AC240565.1 0.062 0.5 * (0.125) + 0.5 * () position: chr17:62560126:+#chr17:106864:-,junction_reads: 10,spanning_reads: 0,ffmp: 0.014
GRIP1--SCIMP 0.125 0.5 * (0.125 + 0.125) + 0.5 * () position: chr12:66444584#chr17:5214998,reading-frame: out-of-frame,type: translocation,split_reads1: 3,split_reads2: 7,discordant_mates: 0,coverage1: 163,coverage2: 306,confidence: high position: chr12:66444584:-#chr17:5214998:-,junction_reads: 10,spanning_reads: 0,ffmp: 0.0527
ZMYM4--ZNF362 0.125 0.5 * (0.125 + 0.125) + 0.5 * () position: chr1:35370627#chr1:33294937,reading-frame: in-frame,type: duplication,split_reads1: 5,split_reads2: 3,discordant_mates: 0,coverage1: 578,coverage2: 1147,confidence: high position: chr1:35370627:+#chr1:33294937:+,junction_reads: 8,spanning_reads: 0,ffmp: 0.0422
PMPCA--PNPLA7 0.125 0.5 * (0.125 + 0.125) + 0.5 * () position: chr9:136423677#chr9:137522857,reading-frame: .,type: inversion,split_reads1: 3,split_reads2: 5,discordant_mates: 0,coverage1: 5,coverage2: 642,confidence: high position: chr9:136423677:+#chr9:137522857:-,junction_reads: 8,spanning_reads: 0,ffmp: 0.0422
MIR4713HG--GLDN 0.062 0.5 * (0.125) + 0.5 * () position: chr15:51037681:+#chr15:51377449:+,junction_reads: 8,spanning_reads: 0,ffmp: 0.0422
ESR1--ARMT1 Mitelman 0.312 0.5 * (0.125) + 0.5 * (0.500) position: chr6:152011794:+#chr6:151454548:+,junction_reads: 8,spanning_reads: 0,ffmp: 0.0422
NFATC2IP--SBK1 0.125 0.5 * (0.125 + 0.125) + 0.5 * () position: chr16:28959100#chr16:28317385,reading-frame: out-of-frame,type: duplication,split_reads1: 1,split_reads2: 7,discordant_mates: 1,coverage1: 678,coverage2: 206,confidence: high position: chr16:28959100:+#chr16:28317385:+,junction_reads: 8,spanning_reads: 1,ffmp: 0.0475
TTC3--SLF1 0.062 0.5 * (0.125) + 0.5 * () position: chr21:37123028:+#chr5:94662298:+,junction_reads: 8,spanning_reads: 2,ffmp: 0.0527
RPS6KB1--VMP1 Mitelman,FusionGDB2 0.312 0.5 * (0.125) + 0.5 * (0.500 + 0.000) position: chr17:59914703:+#chr17:59811670:+,junction_reads: 7,spanning_reads: 1,ffmp: 0.0422
VTCN1--VTCN1 0.062 0.5 * (0.125) + 0.5 * () position: chr1:117225109#chr1:117170171,reading-frame: .,type: deletion/read-through,split_reads1: 28,split_reads2: 246,discordant_mates: 0,coverage1: 475,coverage2: 4573,confidence: high
Metazoa_SRP--VTCN1 0.062 0.5 * (0.125) + 0.5 * () position: chr1:117225109#chr1:117170171,reading-frame: .,type: deletion/read-through,split_reads1: 28,split_reads2: 246,discordant_mates: 0,coverage1: 475,coverage2: 4573,confidence: high
STX16--NPEPL1 0.062 0.5 * (0.125) + 0.5 * () position: chr20:58673711#chr20:58691724,reading-frame: .,type: deletion/read-through,split_reads1: 132,split_reads2: 93,discordant_mates: 10,coverage1: 3489,coverage2: 699,confidence: high
ATP9A--BOLA2P1 0.062 0.5 * (0.125) + 0.5 * () position: chr20:51712966#chr18:836463,reading-frame: out-of-frame,type: translocation,split_reads1: 87,split_reads2: 48,discordant_mates: 0,coverage1: 3449,coverage2: 82,confidence: high
ATP9A--AP000894.1 0.062 0.5 * (0.125) + 0.5 * () position: chr20:51712966#chr18:836463,reading-frame: out-of-frame,type: translocation,split_reads1: 87,split_reads2: 48,discordant_mates: 0,coverage1: 3449,coverage2: 82,confidence: high
MYOF--CEP55 0.062 0.5 * (0.125) + 0.5 * () position: chr10:93426071#chr10:93532602,reading-frame: out-of-frame,type: duplication,split_reads1: 68,split_reads2: 33,discordant_mates: 8,coverage1: 2526,coverage2: 87,confidence: high
MYOF--FFAR4 0.062 0.5 * (0.125) + 0.5 * () position: chr10:93426071#chr10:93532602,reading-frame: out-of-frame,type: duplication,split_reads1: 68,split_reads2: 33,discordant_mates: 8,coverage1: 2526,coverage2: 87,confidence: high
NOCT--AC109927.1 0.062 0.5 * (0.125) + 0.5 * () position: chr4:139016171#chr4:138906785,reading-frame: out-of-frame,type: duplication/5'-5',split_reads1: 76,split_reads2: 30,discordant_mates: 0,coverage1: 1839,coverage2: 42,confidence: high
TVP23C--CDRT4 FusionGDB2 0.062 0.5 * (0.125) + 0.5 * (0.000) position: chr17:15503098#chr17:15440285,reading-frame: out-of-frame,type: deletion/read-through,split_reads1: 40,split_reads2: 62,discordant_mates: 1,coverage1: 417,coverage2: 294,confidence: high
SNRPC--AL451165.1 0.062 0.5 * (0.125) + 0.5 * () position: chr6:34762703#chr6:34718546,reading-frame: out-of-frame,type: duplication,split_reads1: 41,split_reads2: 12,discordant_mates: 3,coverage1: 5047,coverage2: 23,confidence: high
SNRPC--AL139100.1 0.062 0.5 * (0.125) + 0.5 * () position: chr6:34762703#chr6:34718546,reading-frame: out-of-frame,type: duplication,split_reads1: 41,split_reads2: 12,discordant_mates: 3,coverage1: 5047,coverage2: 23,confidence: high
AC005993.1--RGS6 FusionGDB2 0.062 0.5 * (0.125) + 0.5 * (0.000) position: chr14:71916030#chr14:71964772,reading-frame: .,type: deletion/read-through,split_reads1: 7,split_reads2: 35,discordant_mates: 1,coverage1: 65,coverage2: 424,confidence: high
PCDHA4--PCDHAC1 0.062 0.5 * (0.125) + 0.5 * () position: chr5:140809572#chr5:140978949,reading-frame: in-frame,type: deletion/read-through,split_reads1: 12,split_reads2: 24,discordant_mates: 0,coverage1: 303,coverage2: 526,confidence: high
PCDHA4--PCDHAC2 0.062 0.5 * (0.125) + 0.5 * () position: chr5:140809572#chr5:140978949,reading-frame: in-frame,type: deletion/read-through,split_reads1: 12,split_reads2: 24,discordant_mates: 0,coverage1: 303,coverage2: 526,confidence: high
PCDHA4--PCDHA13 0.062 0.5 * (0.125) + 0.5 * () position: chr5:140809572#chr5:140978949,reading-frame: in-frame,type: deletion/read-through,split_reads1: 12,split_reads2: 24,discordant_mates: 0,coverage1: 303,coverage2: 526,confidence: high
SNX25--LINC02427 0.062 0.5 * (0.125) + 0.5 * () position: chr4:185264610#chr4:184529229,reading-frame: out-of-frame,type: duplication/5'-5',split_reads1: 20,split_reads2: 1,discordant_mates: 2,coverage1: 2135,coverage2: 2,confidence: high
AC092807.3--DDAH1 0.062 0.5 * (0.125) + 0.5 * () position: chr1:85496166#chr1:85358847,reading-frame: .,type: deletion/read-through,split_reads1: 9,split_reads2: 12,discordant_mates: 1,coverage1: 43,coverage2: 452,confidence: high
MED7--EPB41L4A 0.062 0.5 * (0.125) + 0.5 * () position: chr5:157142820#chr5:112307490,reading-frame: .,type: deletion,split_reads1: 1,split_reads2: 20,discordant_mates: 0,coverage1: 92,coverage2: 526,confidence: high
CTNND2--Y_RNA 0.062 0.5 * (0.125) + 0.5 * () position: chr5:11346372#chr17:48514866,reading-frame: out-of-frame,type: translocation,split_reads1: 17,split_reads2: 4,discordant_mates: 0,coverage1: 97,coverage2: 6,confidence: high
CTNND2--HOXB1 0.062 0.5 * (0.125) + 0.5 * () position: chr5:11346372#chr17:48514866,reading-frame: out-of-frame,type: translocation,split_reads1: 17,split_reads2: 4,discordant_mates: 0,coverage1: 97,coverage2: 6,confidence: high
ATP9A--AP000894.4 0.062 0.5 * (0.125) + 0.5 * () position: chr20:51712966#chr18:828019,reading-frame: out-of-frame,type: translocation,split_reads1: 2,split_reads2: 16,discordant_mates: 1,coverage1: 3449,coverage2: 39,confidence: high
KLRC4--KLRK1 0.062 0.5 * (0.125) + 0.5 * () position: chr12:10407636#chr12:10388875,reading-frame: stop-codon,type: deletion/read-through,split_reads1: 11,split_reads2: 5,discordant_mates: 0,coverage1: 140,coverage2: 277,confidence: high
USP6NL--ECHDC3 0.062 0.5 * (0.125) + 0.5 * () position: chr10:11597631#chr10:11766196,reading-frame: out-of-frame,type: duplication,split_reads1: 12,split_reads2: 1,discordant_mates: 1,coverage1: 847,coverage2: 2,confidence: high
USP6NL--PROSER2 0.062 0.5 * (0.125) + 0.5 * () position: chr10:11597631#chr10:11766196,reading-frame: out-of-frame,type: duplication,split_reads1: 12,split_reads2: 1,discordant_mates: 1,coverage1: 847,coverage2: 2,confidence: high
ATP13A3--CCSER1 0.062 0.5 * (0.125) + 0.5 * () position: chr3:194485794#chr4:90312937,reading-frame: .,type: translocation/5'-5',split_reads1: 8,split_reads2: 6,discordant_mates: 0,coverage1: 923,coverage2: 308,confidence: high
EML3--TPCN2 0.062 0.5 * (0.125) + 0.5 * () position: chr11:62603149#chr11:69141921,reading-frame: out-of-frame,type: inversion,split_reads1: 7,split_reads2: 2,discordant_mates: 3,coverage1: 1057,coverage2: 7,confidence: high
EML3--AP003071.2 0.062 0.5 * (0.125) + 0.5 * () position: chr11:62603149#chr11:69141921,reading-frame: out-of-frame,type: inversion,split_reads1: 7,split_reads2: 2,discordant_mates: 3,coverage1: 1057,coverage2: 7,confidence: high
HSDL2--RPS10P3 0.062 0.5 * (0.125) + 0.5 * () position: chr9:112418958#chr9:88064747,reading-frame: out-of-frame,type: duplication,split_reads1: 5,split_reads2: 3,discordant_mates: 0,coverage1: 565,coverage2: 6,confidence: high
HSDL2--AL353572.4 0.062 0.5 * (0.125) + 0.5 * () position: chr9:112418958#chr9:88064747,reading-frame: out-of-frame,type: duplication,split_reads1: 5,split_reads2: 3,discordant_mates: 0,coverage1: 565,coverage2: 6,confidence: high
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