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aih-tih-sc-573e21-R1_A23YTGFLT4_1.fusions.csv
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s3://natera-rnd-pltf-dev-nextflow-scratch-01/work/64/ef3f28f10d0db51b26e31e84b4b610/aih-tih-sc-573e21-R1_A23YTGFLT4_1.fusions.csv
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Attempt
Fusion Databases Score Explained score arriba starfusion
TRRAP--SMURF1 0.062 0.5 * (0.125) + 0.5 * () position: chr7:99005348:+#chr7:99061837:-,junction_reads: 49,spanning_reads: 0,ffmp: 0.1656
COL1A1--SLC45A4 0.062 0.5 * (0.125) + 0.5 * () position: chr17:50189867:-#chr8:141254178:-,junction_reads: 40,spanning_reads: 0,ffmp: 0.1352
CNOT2--MYRFL 0.062 0.5 * (0.125) + 0.5 * () position: chr12:70243480:+#chr12:69855280:+,junction_reads: 40,spanning_reads: 0,ffmp: 0.1352
RAB3IP--FRS2 Mitelman,FusionGDB2 0.312 0.5 * (0.125) + 0.5 * (0.500 + 0.000) position: chr12:69756663:+#chr12:69530865:+,junction_reads: 25,spanning_reads: 2,ffmp: 0.0913
SH3KBP1--RPS6KA3 FusionGDB2 0.062 0.5 * (0.125) + 0.5 * (0.000) position: chrX:19836125:-#chrX:20234814:-,junction_reads: 16,spanning_reads: 0,ffmp: 0.0541
TLK2P1--AC110079.1 0.062 0.5 * (0.125) + 0.5 * () position: chr17:34039043:-#chr4:118595912:+,junction_reads: 11,spanning_reads: 0,ffmp: 0.0295
TLK2--AC240565.1 0.062 0.5 * (0.125) + 0.5 * () position: chr17:62560126:+#chr17:106864:-,junction_reads: 10,spanning_reads: 0,ffmp: 0.0041
SEC23B--AC010183.2 0.125 0.5 * (0.125 + 0.125) + 0.5 * () position: chr20:18535742#chr12:114178760,reading-frame: out-of-frame,type: translocation,split_reads1: 300,split_reads2: 47,discordant_mates: 20,coverage1: 4811,coverage2: 83,confidence: high position: chr20:18535742:+#chr12:114113341:+,junction_reads: 10,spanning_reads: 0,ffmp: 0.0338
RPSAP52--HMGA2 FusionGDB2 0.062 0.5 * (0.125) + 0.5 * (0.000) position: chr12:65826843:-#chr12:65828001:+,junction_reads: 10,spanning_reads: 0,ffmp: 0.0338
INPP5A--AL731769.2 0.125 0.5 * (0.125 + 0.125) + 0.5 * () position: chr10:132645968#chr10:133608144,reading-frame: out-of-frame,type: deletion,split_reads1: 8,split_reads2: 1,discordant_mates: 1,coverage1: 567,coverage2: 3,confidence: high position: chr10:132645968:+#chr10:133608144:+,junction_reads: 9,spanning_reads: 1,ffmp: 0.0338
SH3KBP1--AL807740.1 0.062 0.5 * (0.125) + 0.5 * () position: chrX:19836125#chrX:20727039,reading-frame: out-of-frame,type: duplication,split_reads1: 300,split_reads2: 137,discordant_mates: 18,coverage1: 11514,coverage2: 305,confidence: high
SH3KBP1--AL807742.1 0.062 0.5 * (0.125) + 0.5 * () position: chrX:19836125#chrX:20727039,reading-frame: out-of-frame,type: duplication,split_reads1: 300,split_reads2: 137,discordant_mates: 18,coverage1: 11514,coverage2: 305,confidence: high
SEC23B--LINC02459 0.062 0.5 * (0.125) + 0.5 * () position: chr20:18535742#chr12:114178760,reading-frame: out-of-frame,type: translocation,split_reads1: 300,split_reads2: 47,discordant_mates: 20,coverage1: 4811,coverage2: 83,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: 54,split_reads2: 30,discordant_mates: 1,coverage1: 790,coverage2: 430,confidence: high
C1QTNF3--AMACR 0.062 0.5 * (0.125) + 0.5 * () position: chr5:34020587#chr5:34005899,reading-frame: out-of-frame,type: deletion/read-through,split_reads1: 46,split_reads2: 35,discordant_mates: 2,coverage1: 584,coverage2: 1602,confidence: high
STX16--NPEPL1 0.062 0.5 * (0.125) + 0.5 * () position: chr20:58673711#chr20:58691724,reading-frame: out-of-frame,type: deletion/read-through,split_reads1: 33,split_reads2: 33,discordant_mates: 0,coverage1: 1776,coverage2: 377,confidence: high
PPP6R3--AP003096.1 0.062 0.5 * (0.125) + 0.5 * () position: chr11:68576043#chr11:68683042,reading-frame: out-of-frame,type: deletion/read-through,split_reads1: 25,split_reads2: 28,discordant_mates: 0,coverage1: 1517,coverage2: 117,confidence: high
PPP6R3--GAL Mitelman,FusionGDB2 0.312 0.5 * (0.125) + 0.5 * (0.500 + 0.000) position: chr11:68576043#chr11:68683042,reading-frame: out-of-frame,type: deletion/read-through,split_reads1: 25,split_reads2: 28,discordant_mates: 0,coverage1: 1517,coverage2: 117,confidence: high
LYN--TGS1 Mitelman,FusionGDB2 0.312 0.5 * (0.125) + 0.5 * (0.500 + 0.000) position: chr8:55966897#chr8:55810881,reading-frame: in-frame,type: duplication,split_reads1: 18,split_reads2: 19,discordant_mates: 2,coverage1: 690,coverage2: 493,confidence: high
OTOAP1--SCNN1B 0.062 0.5 * (0.125) + 0.5 * () position: chr16:22585524#chr16:23348592,reading-frame: .,type: deletion,split_reads1: 2,split_reads2: 21,discordant_mates: 0,coverage1: 3,coverage2: 214,confidence: high
AC009021.2--SCNN1B 0.062 0.5 * (0.125) + 0.5 * () position: chr16:22585524#chr16:23348592,reading-frame: .,type: deletion,split_reads1: 2,split_reads2: 21,discordant_mates: 0,coverage1: 3,coverage2: 214,confidence: high
PDE4D--PSMA2P1 0.062 0.5 * (0.125) + 0.5 * () position: chr5:59038859#chr11:87362357,reading-frame: out-of-frame,type: translocation,split_reads1: 15,split_reads2: 2,discordant_mates: 1,coverage1: 724,coverage2: 7,confidence: high
PDE4D--AP003497.1 0.062 0.5 * (0.125) + 0.5 * () position: chr5:59038859#chr11:87362357,reading-frame: out-of-frame,type: translocation,split_reads1: 15,split_reads2: 2,discordant_mates: 1,coverage1: 724,coverage2: 7,confidence: high
24 rows