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Filename
aih-tih-sc-1274d4-R1_A23YTGFLT4_1.fusions.csv
Full Path
s3://natera-rnd-pltf-dev-nextflow-scratch-01/work/c9/82a89a22287c8a3843563408a3fb23/aih-tih-sc-1274d4-R1_A23YTGFLT4_1.fusions.csv
Size
10.1 KB
Attempt
Fusion Databases Score Explained score arriba starfusion
CLTC--EDEM2 0.062 0.5 * (0.125) + 0.5 * () position: chr17:59620173:+#chr20:35142478:-,junction_reads: 238,spanning_reads: 0,ffmp: 0.9125
RPS6KB1--VMP1 Mitelman,FusionGDB2 0.375 0.5 * (0.125 + 0.125) + 0.5 * (0.500 + 0.000) position: chr17:59893325#chr17:59808796,reading-frame: in-frame,type: duplication,split_reads1: 70,split_reads2: 58,discordant_mates: 0,coverage1: 8325,coverage2: 5957,confidence: high position: chr17:59893325:+#chr17:59808796:+,junction_reads: 150,spanning_reads: 0,ffmp: 0.5751
PARP6--NRG4 0.125 0.5 * (0.125 + 0.125) + 0.5 * () position: chr15:72258037#chr15:75961974,reading-frame: out-of-frame,type: duplication,split_reads1: 88,split_reads2: 60,discordant_mates: 8,coverage1: 2214,coverage2: 198,confidence: high position: chr15:72258037:-#chr15:75961974:-,junction_reads: 149,spanning_reads: 8,ffmp: 0.602
TMX2--MS4A6E 0.125 0.5 * (0.125 + 0.125) + 0.5 * () position: chr11:57712807#chr11:60339866,reading-frame: in-frame,type: deletion,split_reads1: 43,split_reads2: 90,discordant_mates: 1,coverage1: 1395,coverage2: 380,confidence: high position: chr11:57712807:+#chr11:60339866:+,junction_reads: 138,spanning_reads: 1,ffmp: 0.5329
PACSIN2--SLCO2B1 0.125 0.5 * (0.125 + 0.125) + 0.5 * () position: chr22:43015021#chr11:75188136,reading-frame: .,type: translocation,split_reads1: 27,split_reads2: 109,discordant_mates: 0,coverage1: 176,coverage2: 1838,confidence: high position: chr22:43015021:-#chr11:75188136:+,junction_reads: 137,spanning_reads: 0,ffmp: 0.5253
PARD6B--NR1D1 0.125 0.5 * (0.125 + 0.125) + 0.5 * () position: chr20:50738079#chr17:40094122,reading-frame: out-of-frame,type: translocation,split_reads1: 13,split_reads2: 26,discordant_mates: 0,coverage1: 970,coverage2: 1432,confidence: high position: chr20:50738079:+#chr17:40094122:-,junction_reads: 42,spanning_reads: 0,ffmp: 0.161
MAP2K1--PGPEP1L 0.125 0.5 * (0.125 + 0.125) + 0.5 * () position: chr15:66444707#chr15:98971158,reading-frame: out-of-frame,type: inversion,split_reads1: 17,split_reads2: 18,discordant_mates: 1,coverage1: 1734,coverage2: 87,confidence: high position: chr15:66444707:+#chr15:98971158:-,junction_reads: 35,spanning_reads: 1,ffmp: 0.138
TLK2P1--AC110079.1 0.062 0.5 * (0.125) + 0.5 * () position: chr17:34039043:-#chr4:118595912:+,junction_reads: 33,spanning_reads: 0,ffmp: 0.1168
SYNGR1--TTLL1 0.125 0.5 * (0.125 + 0.125) + 0.5 * () position: chr22:39374553#chr22:43046573,reading-frame: out-of-frame,type: inversion,split_reads1: 15,split_reads2: 8,discordant_mates: 0,coverage1: 801,coverage2: 514,confidence: high position: chr22:39374553:+#chr22:43046573:-,junction_reads: 23,spanning_reads: 0,ffmp: 0.0882
FER1L4--PIGU 0.125 0.5 * (0.125 + 0.125) + 0.5 * () position: chr20:35576167#chr20:34616139,reading-frame: .,type: deletion,split_reads1: 5,split_reads2: 14,discordant_mates: 0,coverage1: 17,coverage2: 1565,confidence: high position: chr20:35576167:-#chr20:34616139:-,junction_reads: 19,spanning_reads: 0,ffmp: 0.0728
TLK2--AC240565.1 0.062 0.5 * (0.125) + 0.5 * () position: chr17:62560126:+#chr17:106864:-,junction_reads: 19,spanning_reads: 1,ffmp: 0.0256
INTS1--JAZF1 0.125 0.5 * (0.125 + 0.125) + 0.5 * () position: chr7:1486625#chr7:27840867,reading-frame: out-of-frame,type: duplication,split_reads1: 8,split_reads2: 10,discordant_mates: 1,coverage1: 1102,coverage2: 1919,confidence: high position: chr7:1486625:-#chr7:27840867:-,junction_reads: 18,spanning_reads: 1,ffmp: 0.0725
FSIP1--AC013652.1 0.062 0.5 * (0.125) + 0.5 * () position: chr15:39600845:-#chr15:39071608:-,junction_reads: 16,spanning_reads: 1,ffmp: 0.0636
TTC6--MIPOL1 Mitelman,FusionGDB2 0.375 0.5 * (0.125 + 0.125) + 0.5 * (0.500 + 0.000) position: chr14:37623003#chr14:37546905,reading-frame: out-of-frame,type: duplication,split_reads1: 6,split_reads2: 4,discordant_mates: 0,coverage1: 1061,coverage2: 281,confidence: high position: chr14:37623003:+#chr14:37546905:+,junction_reads: 13,spanning_reads: 0,ffmp: 0.0498
STX16--NPEPL1 0.125 0.5 * (0.125 + 0.125) + 0.5 * () position: chr20:58673711#chr20:58691724,reading-frame: out-of-frame,type: deletion/read-through,split_reads1: 103,split_reads2: 100,discordant_mates: 2,coverage1: 3058,coverage2: 802,confidence: high position: chr20:58673711:+#chr20:58691724:+,junction_reads: 13,spanning_reads: 0,ffmp: 0.0498
PLEKHM1P1--KCNQ2 0.062 0.5 * (0.125) + 0.5 * () position: chr17:64800000:-#chr20:63446837:-,junction_reads: 12,spanning_reads: 0,ffmp: 0.046
FBXO25--AC240565.1 0.062 0.5 * (0.125) + 0.5 * () position: chr8:435707:+#chr17:106864:-,junction_reads: 10,spanning_reads: 0,ffmp: 0.0112
ARID4B--OR2L3 0.125 0.5 * (0.125 + 0.125) + 0.5 * () position: chr1:235137877#chr1:248060661,reading-frame: .,type: inversion,split_reads1: 5,split_reads2: 4,discordant_mates: 0,coverage1: 1160,coverage2: 17,confidence: high position: chr1:235137877:-#chr1:248060661:+,junction_reads: 9,spanning_reads: 0,ffmp: 0.0345
RNF213--SRCIN1 0.062 0.5 * (0.125) + 0.5 * () position: chr17:80390196#chr17:38550711,reading-frame: out-of-frame,type: duplication/5'-5',split_reads1: 143,split_reads2: 39,discordant_mates: 0,coverage1: 4597,coverage2: 97,confidence: high
HDGFL3--ARNT2 0.062 0.5 * (0.125) + 0.5 * () position: chr15:83151215#chr15:80500224,reading-frame: out-of-frame,type: deletion/5'-5',split_reads1: 126,split_reads2: 24,discordant_mates: 1,coverage1: 5936,coverage2: 29,confidence: high
TFB2M--CNST 0.062 0.5 * (0.125) + 0.5 * () position: chr1:246564346#chr1:246568130,reading-frame: out-of-frame,type: duplication/5'-5',split_reads1: 124,split_reads2: 20,discordant_mates: 0,coverage1: 893,coverage2: 26,confidence: high
RPS6KB1--NKILA 0.062 0.5 * (0.125) + 0.5 * () position: chr17:59914703#chr20:57799221,reading-frame: out-of-frame,type: translocation,split_reads1: 133,split_reads2: 5,discordant_mates: 1,coverage1: 3004,coverage2: 13,confidence: high
RPS6KB1--AL162291.1 0.062 0.5 * (0.125) + 0.5 * () position: chr17:59914703#chr20:57799221,reading-frame: out-of-frame,type: translocation,split_reads1: 133,split_reads2: 5,discordant_mates: 1,coverage1: 3004,coverage2: 13,confidence: high
ITCH--RALGAPB 0.062 0.5 * (0.125) + 0.5 * () position: chr20:34481206#chr20:38551215,reading-frame: out-of-frame,type: inversion/3'-3',split_reads1: 50,split_reads2: 80,discordant_mates: 2,coverage1: 1995,coverage2: 5104,confidence: high
CLPX--PDCD7 Mitelman,FusionGDB2 0.312 0.5 * (0.125) + 0.5 * (0.500 + 0.000) position: chr15:65162604#chr15:65118840,reading-frame: out-of-frame,type: deletion/read-through,split_reads1: 62,split_reads2: 46,discordant_mates: 0,coverage1: 862,coverage2: 720,confidence: high
TVP23C--CDRT4 FusionGDB2 0.062 0.5 * (0.125) + 0.5 * (0.000) position: chr17:15503098#chr17:15440285,reading-frame: stop-codon,type: deletion/read-through,split_reads1: 35,split_reads2: 36,discordant_mates: 0,coverage1: 670,coverage2: 329,confidence: high
RPS6KB1--AL118523.1 0.062 0.5 * (0.125) + 0.5 * () position: chr17:59945518#chr20:39923769,reading-frame: out-of-frame,type: translocation,split_reads1: 26,split_reads2: 20,discordant_mates: 7,coverage1: 7033,coverage2: 72,confidence: high
RPS6KB1--HSPE1P1 0.062 0.5 * (0.125) + 0.5 * () position: chr17:59945518#chr20:39923769,reading-frame: out-of-frame,type: translocation,split_reads1: 26,split_reads2: 20,discordant_mates: 7,coverage1: 7033,coverage2: 72,confidence: high
SMURF2--CSH1 0.062 0.5 * (0.125) + 0.5 * () position: chr17:64661829#chr17:63895310,reading-frame: out-of-frame,type: inversion/5'-5',split_reads1: 13,split_reads2: 20,discordant_mates: 0,coverage1: 1770,coverage2: 138,confidence: high
RPN2--CNBD2 0.062 0.5 * (0.125) + 0.5 * () position: chr20:37213865#chr20:36023664,reading-frame: out-of-frame,type: inversion/3'-3',split_reads1: 15,split_reads2: 16,discordant_mates: 0,coverage1: 4186,coverage2: 496,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: 20,discordant_mates: 0,coverage1: 54,coverage2: 234,confidence: high
CEP131--TSHZ2 0.062 0.5 * (0.125) + 0.5 * () position: chr17:81219880#chr20:53216319,reading-frame: out-of-frame,type: translocation/5'-5',split_reads1: 21,split_reads2: 4,discordant_mates: 0,coverage1: 793,coverage2: 6,confidence: high
RPN2--NORAD 0.062 0.5 * (0.125) + 0.5 * () position: chr20:37213865#chr20:36042567,reading-frame: out-of-frame,type: inversion,split_reads1: 23,split_reads2: 0,discordant_mates: 1,coverage1: 4186,coverage2: 1,confidence: high
TTLL12--SLCO2B1 0.062 0.5 * (0.125) + 0.5 * () position: chr22:43186893#chr11:75188136,reading-frame: in-frame,type: translocation,split_reads1: 8,split_reads2: 15,discordant_mates: 0,coverage1: 1409,coverage2: 1838,confidence: high
PCDHA11--PCDHAC2 0.062 0.5 * (0.125) + 0.5 * () position: chr5:140871494#chr5:140978949,reading-frame: in-frame,type: deletion/read-through,split_reads1: 9,split_reads2: 11,discordant_mates: 0,coverage1: 176,coverage2: 390,confidence: high
PCDHA11--PCDHAC1 0.062 0.5 * (0.125) + 0.5 * () position: chr5:140871494#chr5:140978949,reading-frame: in-frame,type: deletion/read-through,split_reads1: 9,split_reads2: 11,discordant_mates: 0,coverage1: 176,coverage2: 390,confidence: high
PCDHA11--PCDHA13 0.062 0.5 * (0.125) + 0.5 * () position: chr5:140871494#chr5:140978949,reading-frame: in-frame,type: deletion/read-through,split_reads1: 9,split_reads2: 11,discordant_mates: 0,coverage1: 176,coverage2: 390,confidence: high
BMP7--DHX35 0.062 0.5 * (0.125) + 0.5 * () position: chr20:57228229#chr20:39088987,reading-frame: out-of-frame,type: deletion,split_reads1: 10,split_reads2: 1,discordant_mates: 0,coverage1: 183,coverage2: 1,confidence: high
BMP7--LINC01734 0.062 0.5 * (0.125) + 0.5 * () position: chr20:57228229#chr20:39088987,reading-frame: out-of-frame,type: deletion,split_reads1: 10,split_reads2: 1,discordant_mates: 0,coverage1: 183,coverage2: 1,confidence: high
RBM34--OR2L3 0.062 0.5 * (0.125) + 0.5 * () position: chr1:235137877#chr1:248060661,reading-frame: in-frame,type: inversion,split_reads1: 5,split_reads2: 4,discordant_mates: 0,coverage1: 1160,coverage2: 17,confidence: high
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